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1.
J Pediatr Orthop ; 2024 May 23.
Artigo em Inglês | MEDLINE | ID: mdl-38783820

RESUMO

BACKGROUND: Triple pelvic osteotomy (TPO) is indicated when the anatomic and functional realignment of the hip joint is needed. Although the traditional approach for TPO involves a separate incision for ischial cut, there has been a trend for single-incision TPO in recent years. This study aims to compare the clinical and radiologic results of 2 different approaches. METHODS: Forty-two hips of 39 patients treated using TPO with a minimum of 24 months of follow-up were included in our cohort. Demographics, perioperative, and radiologic parameters were evaluated. Harris Hip Score and International Hip Outcome Tool were used for clinical evaluation. RESULTS: A single anterolateral incision approach was used in 18 hips (17 patients), whereas a 3-incision approach was used in 24 hips (22 patients). The mean follow-up was 4.7 years in the 3-incision group and 3.8 years in the single-incision group (P=0.43), with mean surgery age at 8.7 years (range, 5.4 to 12) for single-incision and 9.7 years (range, 7.7 to 11.7) for 3e-incision (P=0.22). There were no significant differences observed between the 2 groups concerning radiographic measurements, complications, and functional scores. The mean surgical time was 118.6 minutes in the single-incision group and 97.9 minutes in 3-incision group (P=0.036). Mean intraoperative blood loss was 181.7 ml in the single-incision group and 243.4 ml in 3-incision group (P=0.028). Three-incision group demonstrated significantly higher intraoperative blood loss, leading to lower hemoglobin values (P=0.042). CONCLUSION: The single-incision TPO demonstrated similar outcomes compared with the traditional 3-incision approach in terms of radiologic correction and functional improvement. The single-incision technique exhibited advantages such as reduced intraoperative blood loss and potential benefit of decreased pain due to fewer scars. However, it required a longer surgical time compared with the 3-incision approach. Surgeons should consider patient-specific factors and their expertise when selecting the most appropriate approach for each case. LEVEL OF EVIDENCE: Level III-retrospective comparative series.

2.
Pediatr Int ; 64(1): e14951, 2022 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-34390069

RESUMO

BACKGROUND: Cystic fibrosis (CF) is an autosomal recessively inherited disease. Clinical findings vary by age of the patient, the organ systems involved, and the severity of the CFTR gene mutation. Pancreatic and liver involvement is prominent and exocrine pancreatic insufficiency is observed in the majority of patients. Point shear wave elastography (pSWE) is a non-invasive method that can quantitatively determine tissue elasticity and stiffness. In this study, the morphological evaluation of the pancreas was performed using the pSWE technique in pediatric patients diagnosed with CF. The effectiveness of this method for the early detection of pancreatic insufficiency was investigated. METHODS: Fifty-five patients with CF (24 girls, 31 boys) and 60 healthy children (29 girls, 31 boys) without any chronic diseases and who were suitable for the pSWE examination were included in the study. RESULTS: The mean value of pSWE was 1.12 ± 0.16 in the healthy group and 0.97 ± 0.16 in the patients with cystic fibrosis. There was a statistically significant difference between the two groups (P < 0.001). Significant negative correlations were found between pSWE and age (r = -0.319; P = 0.018), height (r = -0.293; P = 0.03), serum glucose (r = -0.346; P = 0.01), HbA1C (r = -0.592; P = 0.02), and duration of the disease (r = -0.806; P < 0.001). CONCLUSIONS: Investigating pancreatic elasticity and detecting pancreatic insufficiency using pSWE (a simple, inexpensive, and non-invasive method) in the early period before overt laboratory and clinical symptoms of EPI appear can contribute positively to long-term results in young patients with CF.


Assuntos
Fibrose Cística , Técnicas de Imagem por Elasticidade , Insuficiência Pancreática Exócrina , Adolescente , Criança , Doença Crônica , Fibrose Cística/diagnóstico por imagem , Técnicas de Imagem por Elasticidade/métodos , Insuficiência Pancreática Exócrina/diagnóstico , Insuficiência Pancreática Exócrina/etiologia , Feminino , Humanos , Masculino , Pâncreas/diagnóstico por imagem
3.
Int J Clin Pract ; 75(9): e14466, 2021 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-34107134

RESUMO

BACKGROUND: In December 2019, a novel type of coronavirus infection emerged in the Wuhan province of China and began to spread rapidly. In this study, we aimed to determine the differences between COVID-19 disease and Influenza. METHODS: This retrospective study included 164 children with COVID-19, as well as 46 children with Influenza. The two groups were compared with respect to clinical and laboratory parameters and the rates of intensive care and mechanical ventilation requirement. RESULTS: In both groups, the most common admission complaints were fever and cough. As compared to the COVID-19 group, the Influenza group had significantly higher rates of cough (37 [80.4%] and 38 [23.2%]), fever (31 [67.4%] and 34 [20.7%]), muscle pain (34 [73.9%] and 31 [18.9%]), vomiting (13 [28.9%] and 8 [4.9%]) and tachypnea (32 [69.6%] and 3 [1.8%]) (P < .01 for all comparisons). The mean WBC count (7.10 ± 1.08 vs. 10.90 ± 1.82), mean neutrophil count (3.19 ± 0.58 vs. 6.04 ± 0.97), APTT, CRP, procalcitonin, ALT, and LDH levels were significantly lower in the COVID-19 group compared to the Influenza group (P < .05 for all comparisons). There was, however, no significant difference between the mean lymphocyte counts of both groups. The Influenza group had significantly higher rates of intensive care requirement (19 [41.3%] vs. 3 [1.8%]) and mechanical ventilation requirement (16 [34.8%] vs. 2 [1.2%]) as well as a significantly higher mortality rate (7 [15.2%] vs. 2 [1.2%]) than the COVID-19 group (P < .01). CONCLUSION: COVID-19 and Influenza may share similar clinical features. According to our findings, however, we believe that COVID-19 disease has a milder clinical and laboratory course than Influenza in children.


Assuntos
COVID-19 , Influenza Humana , Criança , China/epidemiologia , Hospitalização , Humanos , Influenza Humana/epidemiologia , Estudos Retrospectivos , SARS-CoV-2
4.
Mikrobiyol Bul ; 55(2): 265-284, 2021 Apr.
Artigo em Turco | MEDLINE | ID: mdl-33882657

RESUMO

The major disadvantages of traditional virus vaccines are time constraints in development and difficulties in large-scale production. Therefore, there is a need to develop stronger and more versatile vaccine platforms. mRNA vaccines constitute a promising alternative to traditional vaccine approaches due to their high potential, rapid development capacity, low cost production and safe administration potential. Stability and translation of mRNA are crucial for a successful RNA vaccine. It is critical to determine mRNA purity, stability, and protein yield during the translation process. Therefore, engineering the RNA sequence, such as modification of the 5' cap structure, extension of the poly (A) tail, editing nucleotide sequences in non-coding (UTR) and coding (ORF) regions, or incorporating modified nucleotides into the structure, makes synthetic mRNA more translatable. Two classes of non-replicating and self-amplifying mRNA are used as vaccines. While non-replicating mRNA only encodes protein antigens of interest, self-amplifying mRNA also encodes proteins required for RNA replication. The transfer and formulation of mRNA vaccines to cells is crucial for determining the kinetics of antigen expression, protein amount, and strength of immune response. In order to achieve this success, mRNA vaccines are given to cells in various formats such as lipid nanoparticles, polymers, peptides, and naked mRNA to develop the most effective transfer material. Recent technological advances have eliminated the low efficiency in in vivo transfer and translation and have made this vaccine platform widespread in preclinical and clinical trials against various infectious diseases and cancers. Over the past decade, major technological innovations have made mRNA a promising therapeutic tool in the fields of vaccine development and protein replacement therapy. Nowadays, antigens, neutralizing antibodies and proteins with immunostimulating activity have become coded by mRNA vaccines. Although many mRNA vaccines appear to be effective in preclinical and clinical studies, there are still some issues to be improved in terms of transfer efficiency, targeting to specific cell types, and the reliability of transfer devices. In this review, the latest developments and current challenges in the optimization, formulation and transfer of mRNA vaccines to cells with future development perspectives have been reviewed.


Assuntos
Neoplasias , Vacinas , Humanos , RNA Mensageiro/genética , Reprodutibilidade dos Testes
5.
Rheumatology (Oxford) ; 59(6): 1372-1380, 2020 06 01.
Artigo em Inglês | MEDLINE | ID: mdl-31598713

RESUMO

OBJECTIVES: FMF is the most common periodic fever syndrome, characterized by recurrent episodes of fever and serosal inflammation accompanied with high acute phase reactants. The analysis of possible comorbidities is important to understand the impact of these conditions on clinical care and whether they share a common aetiological pathway. In this study, we aimed to evaluate the comorbidities associated with FMF patients in a large genetically diagnosed cohort. METHODS: We retrospectively evaluated the medical and genetic records of FMF patients who were followed up by rheumatologists in Hacettepe University for 15 years. The FMF patients who had homozygous or compound heterozygous mutations were included in the study. Comorbidities associated with FMF were divided into three groups: (i) comorbidities directly related to FMF, (ii) comorbidities due to increased innate inflammation, and (iii) comorbidities that were regarded as being incidental. RESULTS: A total of 2000 patients with a diagnosis of FMF were enrolled in the study. Among them 636 were children (31.8%) and M694V was the most common mutation in patients with associated inflammatory conditions. The frequency of AS, Iga Vasculitis (Henoch-Schönlein purpura), juvenile idiopathic arthritis, polyarteritis nodosa, multiple sclerosis and Behçet's disease were increased in patients with FMF when compared with those in the literature. CONCLUSION: This study represents the largest genetically confirmed cohort and compares the frequencies with existing national and international figures for each disease. The increased innate immune system inflammation seen in FMF may be considered as a susceptibility factor since it predisposes to certain inflammatory conditions.


Assuntos
Febre Familiar do Mediterrâneo/epidemiologia , Febre Familiar do Mediterrâneo/genética , Doenças Genéticas Inatas/epidemiologia , Doenças Genéticas Inatas/genética , Pirina/genética , Adolescente , Adulto , Amiloidose/epidemiologia , Amiloidose/genética , Artrite Juvenil/epidemiologia , Artrite Juvenil/genética , Síndrome de Behçet/epidemiologia , Síndrome de Behçet/genética , Criança , Comorbidade , Feminino , Humanos , Vasculite por IgA/epidemiologia , Vasculite por IgA/genética , Masculino , Esclerose Múltipla/epidemiologia , Esclerose Múltipla/genética , Mutação , Poliarterite Nodosa/epidemiologia , Poliarterite Nodosa/genética , Estudos Retrospectivos , Adulto Jovem
6.
Transfus Apher Sci ; 59(4): 102764, 2020 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-32241646

RESUMO

A genetic mutation was detected by our clinic in two sisters in a family with low iron levels and mild symptoms. We identified this missense mutation in the FTL gene (c.473T > C; p.Pro158Leu, rs374486686) of the sisters who had weakness symptom and low serum ferritin level. This mutation causes the codon CCG changing into CTG, thus composing an amino acid substitution in which proline 158 is replaced by leucine. The patients with this mutation had unmeasurable serum ferritin levels while other iron parameters' levels are normal. As a result of this mutation, we demonstrated that ferritin connects iron however it can not store iron.


Assuntos
Ferritinas/sangue , Ferro/metabolismo , Adulto , Feminino , Humanos , Mutação , Valores de Referência , Adulto Jovem
7.
Pediatr Int ; 61(3): 271-277, 2019 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-30636381

RESUMO

BACKGROUND: The aim of this study was to identify the cut-offs of postnatal anteroposterior renal pelvic diameter (APRPD), according to the urinary tract dilation (UTD) classification system, to identify the predictors of final diagnosis of UTD and the need for surgery. METHODS: A total of 260 infants (336 renal units) with prenatally detected UTD were prospectively evaluated on serial ultrasonography by the same radiologist. Additional voiding cystourethrography and scintigraphy was done according to the clinical algorithm. RESULTS: Prenatal and postnatal APRPD in patients with transient dilation were significantly lower than in those with urinary tract anomalies (UTA). On follow up, the slope of decrease in APRPD was significantly higher in transient dilation compared with UTA. APRPD 10 mm at first-month ultrasonography, predicted UTA with a sensitivity of 83.1%, and specificity of 71.1%. On multivariate analysis the likelihood of surgical intervention and final diagnosis were predicted independently by the UTD system risk group. CONCLUSIONS: Careful ultrasonography evaluation can avoid unnecessary testing in patients with transient or clinically insignificant dilation. The UTD classification system is valid for evaluation of postnatal hydronephrosis and is reliable in predicting the need for surgical intervention.


Assuntos
Pelve Renal/diagnóstico por imagem , Ultrassonografia/métodos , Anormalidades Urogenitais/diagnóstico por imagem , Dilatação Patológica , Feminino , Humanos , Lactente , Recém-Nascido , Pelve Renal/anormalidades , Masculino , Gravidez , Estudos Prospectivos , Sensibilidade e Especificidade , Turquia
8.
Clin Exp Rheumatol ; 36(6 Suppl 115): 116-124, 2018.
Artigo em Inglês | MEDLINE | ID: mdl-30582517

RESUMO

Familial Mediterranean fever (FMF), the most common of the systemic autoinflammatory disorders, is caused by mutations in the MEFV (Mediterranean Fever) gene, which encodes the protein pyrin. Neutrophils, one of the major components during inflammation, are the main cell type that expresses pyrin. In response to an inflammatory stimulus, neutrophils migration to their main active site. To date, several pyrin-interacting proteins have been demonstrated to co-localise with the cytoskeletal protein actin, which is important in the process of neutrophil migration and raises the question of whether pyrin plays a role in the actin cytoskeletal network during inflammatory cell migration. In this study, we examined the possible role of pyrin during inflammatory cell migration in neutrophils. We generated a cell migration assay with neutrophils and primary neutrophils from patients. We also knocked down pyrin expression using siRNA and then performed cell migration assay. We showed co-localisation of pyrin and F-actin at the leading edge during inflammatory cell migration. In pyrin knocked down cells, we identified a significant decrease in neutrophil migration. In addition, we demonstrated a dramatic increase in migration in the neutrophils of FMF patients compared with a healthy control group. These data together provide new insight into the cellular function of pyrin and demonstrate an important link between pyrin and polymerising actin in the process of inflammatory cell migration.


Assuntos
Quimiotaxia de Leucócito , Febre Familiar do Mediterrâneo/genética , Mutação , Neutrófilos/metabolismo , Pirina/genética , Pirina/metabolismo , Citoesqueleto de Actina/metabolismo , Actinas/metabolismo , Adolescente , Estudos de Casos e Controles , Criança , Pré-Escolar , Febre Familiar do Mediterrâneo/imunologia , Febre Familiar do Mediterrâneo/metabolismo , Feminino , Predisposição Genética para Doença , Células HL-60 , Humanos , Masculino , Neutrófilos/imunologia , Fenótipo , Transdução de Sinais
9.
Clin Exp Rheumatol ; 35 Suppl 108(6): 90-94, 2017.
Artigo em Inglês | MEDLINE | ID: mdl-29224588

RESUMO

OBJECTIVES: Phenotypic heterogeneity in familial Mediterranean fever (FMF) disease indicated that FMF is not a simple monogenic disease. Therefore it has been suggested that epigenetic factors can be one of the reason for the variations. We undertook this study to test potential involvement of miRNAs in the pathogenesis of FMF. METHODS: miRNA array was performed on whole blood RNA samples from 6 healthy controls (-/-), 6 FMF patients (M694V/M694V), 6 carriers who displayed the disease phenotype (M694V/-) and 6 healthy carriers (M694V/-). The raw data was analysed by Multi Experiment Viewer (MeV) and candidate miRNAs were determined according to fold change (more than 2.0 or less than -2.0). The validation of differentially expressed miRNAs was done by qRT-PCR. Then we performed pathway analyses with using bioinformatics tools. RESULTS: 14 miRNAs were found to be significant among groups through the analysis with MeV. miR-20a-5p, miR-197-3p, let-7d-3p and miR-574-3p were found to be associated with inflammatory pathway related genes according to DAVID analysis. MiR-20a-5p (FDR: 0,00, FCH: 5.55) was significantly up regulated whereas miR-197-3p (FDR: 0,00, FCH: -2.27) was down regulated in homozygotes patients. Both let-7d-3p (FDR: 0.00, FCH: 28.75) and miR-574-3p (FDR: 0.00, FCH: 3.95) were up regulated in heterozygote patients group. CONCLUSIONS: We showed that there are several differentially expressed miRNAs both in homozygote and heterozygote FMF patients compared to controls and healthy carriers. Thus we suggest that these miRNAs, related with inflammatory pathways may be responsible for the expression of the disease in FMF.


Assuntos
Febre Familiar do Mediterrâneo/genética , MicroRNAs/genética , Transcriptoma , Adulto , Estudos de Casos e Controles , Biologia Computacional , Bases de Dados Genéticas , Febre Familiar do Mediterrâneo/diagnóstico , Feminino , Perfilação da Expressão Gênica/métodos , Redes Reguladoras de Genes , Estudos de Associação Genética , Predisposição Genética para Doença , Heterozigoto , Homozigoto , Humanos , Masculino , Mutação , Análise de Sequência com Séries de Oligonucleotídeos , Fenótipo , Pirina/genética , Reação em Cadeia da Polimerase em Tempo Real
10.
Minim Invasive Ther Allied Technol ; 26(3): 182-187, 2017 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-27869520

RESUMO

Morgagni hernia is a relatively rare form of diaphragmatic hernia in the pediatric age group and it is conventionally treated with open surgical repair. Minimal access surgery is currently being adapted for many procedures in children. However, to date just a few techniques have been described relevant to minimal access surgical repair of Morgagni hernia in children. Herein, we report two cases of Morgagni hernia repaired by a new single-port laparoscopic technique assisted by an optical forceps. Two infants, a one-year-old boy and an eight-month-old girl, were operated with this technique in just 26 and 35 min and were discharged with oral analgesic prescription by postoperative hour 5 and 8, respectively. In the English-language literature, these cases are the first reports of laparoscopic Morgagni hernia repair that were performed as an outpatient procedure. Also, the technique introduced can be easily applied by a single surgeon without an assistant to operate the laparoscope.


Assuntos
Procedimentos Cirúrgicos Ambulatórios/métodos , Hérnias Diafragmáticas Congênitas/cirurgia , Laparoscopia/métodos , Procedimentos Cirúrgicos Ambulatórios/instrumentação , Analgésicos/administração & dosagem , Feminino , Humanos , Lactente , Laparoscópios , Laparoscopia/instrumentação , Masculino , Procedimentos Cirúrgicos Minimamente Invasivos/instrumentação , Procedimentos Cirúrgicos Minimamente Invasivos/métodos , Duração da Cirurgia , Instrumentos Cirúrgicos
11.
J Immunol ; 192(9): 4379-85, 2014 May 01.
Artigo em Inglês | MEDLINE | ID: mdl-24706726

RESUMO

The proinflammatory enzyme caspase-1 plays an important role in the innate immune system and is involved in a variety of inflammatory conditions. Rare naturally occurring human variants of the caspase-1 gene (CASP1) lead to different protein expression and structure and to decreased or absent enzymatic activity. Paradoxically, a significant number of patients with such variants suffer from febrile episodes despite decreased IL-1ß production and secretion. In this study, we investigate how variant (pro)caspase-1 can possibly contribute to inflammation. In a transfection model, such variant procaspase-1 binds receptor interacting protein kinase 2 (RIP2) via Caspase activation and recruitment domain (CARD)/CARD interaction and thereby activates NF-κB, whereas wild-type procaspase-1 reduces intracellular RIP2 levels by enzymatic cleavage and release into the supernatant. We approach the protein interactions by coimmunoprecipitation and confocal microscopy and show that NF-κB activation is inhibited by anti-RIP2-short hairpin RNA and by the expression of a RIP2 CARD-only protein. In conclusion, variant procaspase-1 binds RIP2 and thereby activates NF-κB. This pathway could possibly contribute to proinflammatory signaling.


Assuntos
Caspase 1/genética , Febre/genética , Inflamação/genética , NF-kappa B/metabolismo , Proteína Serina-Treonina Quinase 2 de Interação com Receptor/metabolismo , Western Blotting , Caspase 1/metabolismo , Febre/enzimologia , Imunofluorescência , Técnicas de Silenciamento de Genes , Variação Genética , Células HEK293 , Humanos , Imunoprecipitação , Inflamação/imunologia , Inflamação/metabolismo , Transdução de Sinais/fisiologia , Transdução Genética , Transfecção
12.
Cell Biol Int ; 39(12): 1384-94, 2015 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-26179737

RESUMO

A set of mutations in the MEditerranean FeVer (MEFV) gene causes familial Mediterranean fever (FMF), the most common auto-inflammatory disease. The gene encodes a protein named pyrin, which appears to play an important role in inflammatory pathways. Furthermore, pyrin, which is expressed in neutrophils, has been reported to interact with proline-serine-threonine phosphatase-interacting protein 1 (PSTPIP1) and actin proteins. However, the relations between pyrin and PSTPIP1 during the cell migration have not yet been elucidated. In the present study, we constructed a cell migration assay method using HL-60 cells. Pyrin-PSTPIP1 interactions were analysed by immunofluorescence staining in control, differentiated and differentiated-stimulated HL-60 cells. In stimulated cells, pyrin-polymerised actin, PSTPIP1-polymerised actin and pyrin-PSTPIP1 were found to be colocalised. Pyrin has been shown to be colocalised with actin and PSTPIP1 at the leading edge of the migrating cell. For the first time, PSTPIP1 was found to interact with dynamic actin and pyrin at the site of polarisation.


Assuntos
Proteínas Adaptadoras de Transdução de Sinal/análise , Proteínas Adaptadoras de Transdução de Sinal/fisiologia , Movimento Celular/fisiologia , Proteínas do Citoesqueleto/análise , Proteínas do Citoesqueleto/fisiologia , Diferenciação Celular/fisiologia , Células HL-60 , Humanos , Pirina
13.
Memory ; 23(3): 329-39, 2015.
Artigo em Inglês | MEDLINE | ID: mdl-24528249

RESUMO

Although visual imagery is argued to be an essential component of autobiographical memory, there have been surprisingly few studies on autobiographical memory processes in blind individuals, who have had no or limited visual input. The purpose of the present study was to investigate how blindness affects retrieval and phenomenology of autobiographical memories. We asked 48 congenital/early blind and 48 sighted participants to recall autobiographical memories in response to six cue words, and to fill out the Autobiographical Memory Questionnaire measuring a number of variables including imagery, belief and recollective experience associated with each memory. Blind participants retrieved fewer memories and reported higher auditory imagery at retrieval than sighted participants. Moreover, within the blind group, participants with total blindness reported higher auditory imagery than those with some light perception. Blind participants also assigned higher importance, belief and recollection ratings to their memories than sighted participants. Importantly, these group differences remained the same for recent as well as childhood memories.


Assuntos
Cegueira/psicologia , Memória Episódica , Rememoração Mental/fisiologia , Adulto , Idade de Início , Sinais (Psicologia) , Feminino , Audição/fisiologia , Humanos , Imaginação/fisiologia , Julgamento/fisiologia , Luz , Masculino , Desempenho Psicomotor/fisiologia , Percepção Visual/fisiologia , Adulto Jovem
14.
Pediatr Surg Int ; 31(7): 639-46, 2015 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-25989867

RESUMO

AIM: The aim of this study was to describe and report the results of our new pediatric inguinal hernia repair technique, in which single-port laparoscopic percutaneous extraperitoneal closure (SPEC) technique was modified by using optical foreign-body forceps (OFF) of the rigid bronchoscope. MATERIALS AND METHODS: Between January 2012 and January 2014, a total of 79 children who were operated using SPEC assisted with OFF (SPEC-OFF) were included in this study. Demographic and clinical features of the children were obtained and reviewed retrospectively. RESULTS: Ninety-nine hernia repairs were performed on a total of 79 children (51 boys, 28 girls). All of the patients were operated by SPEC-OFF without the need of introducing extra forceps, with or without an additional trocar. The mean operating time was 17.6 ± 5.5 min. The mean follow-up period was 17.5 ± 7.1 months. There were six recurrences (two boys, four girls). No wound infection, hydroceles or testicular atrophy occurred in any patients during post-surgery follow-up. The technique left a very small scar with excellent cosmesis in the umbilicus and groin area. CONCLUSIONS: SPEC-OFF is a simple, safe and effective technique for laparoscopic inguinal hernia repair, and for determining contralateral hernia. There is no need to use additional working forceps for the technique and the surgeon can perform the procedure without any assistance for laparoscope.


Assuntos
Hérnia Inguinal/cirurgia , Herniorrafia/instrumentação , Herniorrafia/métodos , Laparoscópios , Laparoscopia/métodos , Instrumentos Cirúrgicos , Criança , Pré-Escolar , Feminino , Humanos , Lactente , Recém-Nascido , Masculino , Estudos Retrospectivos , Resultado do Tratamento
15.
Indian J Crit Care Med ; 19(12): 714-8, 2015 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-26813230

RESUMO

BACKGROUND AND AIMS: The aim of the study was to evaluate the etiology, treatment, and prognosis in children who had presented at our clinic with corrosive substance ingestion and comparison of our results with the literature. MATERIALS AND METHODS: The patients were put on nil by mouth and broad-spectrum antibiotics were administered. Oral fluids were started for patients whose intraoral lesions resolved and who could swallow their saliva. Steroids were not given, a nasogastric catheter was not placed, and early endoscopy was not used. RESULTS: A total of 968 children presented at our clinic for corrosive substance ingestion during the 22-year period. The stricture development rate was 13.5%. Alkali substance ingestion caused a stricture development rate of 23%. A total of 54 patients required 1-52 sessions (mean 15 ±12) of dilatation. CONCLUSION: We do not perform early endoscopy, administer steroids, or place a nasogastric catheter at our clinic for patients who had ingested a corrosive substance. This approach has provided results similar to other series. We feel that determining the burn with early esophagoscopy when factors that prevent or decrease the development of corrosive strictures will be very important.

16.
Am J Hum Genet ; 89(1): 139-47, 2011 Jul 15.
Artigo em Inglês | MEDLINE | ID: mdl-21722858

RESUMO

Idiopathic nephrotic syndrome (INS) is a genetically heterogeneous group of disorders characterized by proteinuria, hypoalbuminemia, and edema. Because it typically results in end-stage kidney disease, the steroid-resistant subtype (SRNS) of INS is especially important when it occurs in children. The present study included 29 affected and 22 normal individuals from 17 SRNS families; genome-wide analysis was performed with Affymetrix 250K SNP arrays followed by homozygosity mapping. A large homozygous stretch on chromosomal region 12p12 was identified in one consanguineous family with two affected siblings. Direct sequencing of protein tyrosine phosphatase receptor type O (PTPRO; also known as glomerular epithelial protein-1 [GLEPP1]) showed homozygous c.2627+1G>T donor splice-site mutation. This mutation causes skipping of the evolutionarily conserved exon 16 (p.Glu854_Trp876del) at the RNA level. Immunohistochemistry with GLEPP1 antibody showed a similar staining pattern in the podocytes of the diseased and control kidney tissues. We used a highly polymorphic intragenic DNA marker-D12S1303-to search for homozygosity in 120 Turkish and 13 non-Turkish individuals in the PodoNet registry. This analysis yielded 17 candidate families, and a distinct homozygous c.2745+1G>A donor splice-site mutation in PTPRO was further identified via DNA sequencing in a second Turkish family. This mutation causes skipping of exon 19, and this introduces a premature stop codon at the very beginning of exon 20 (p.Asn888Lysfs*3) and causes degradation of mRNA via nonsense-mediated decay. Immunohistochemical analysis showed complete absence of immunoreactive PTPRO. Ultrastructural alterations, such as diffuse foot process fusion and extensive microvillus transformation of podocytes, were observed via electron microscopy in both families. The present study introduces mutations in PTPRO as another cause of autosomal-recessive nephrotic syndrome.


Assuntos
Síndrome Nefrótica/congênito , Proteínas Tirosina Fosfatases Classe 3 Semelhantes a Receptores/genética , Adolescente , Idade de Início , Sequência de Aminoácidos , Criança , Pré-Escolar , Cromossomos Humanos Par 12 , Códon sem Sentido/genética , Consanguinidade , Éxons , Feminino , Genes Recessivos , Estudo de Associação Genômica Ampla/métodos , Homozigoto , Humanos , Masculino , Dados de Sequência Molecular , Síndrome Nefrótica/genética , Linhagem , Polimorfismo de Nucleotídeo Único , Sítios de Splice de RNA , Proteínas Tirosina Fosfatases Classe 3 Semelhantes a Receptores/metabolismo
17.
J Orthop Surg Res ; 19(1): 140, 2024 Feb 14.
Artigo em Inglês | MEDLINE | ID: mdl-38355539

RESUMO

BACKGROUND: Current treatment options for patellofemoral (PF) instability have required functional scoring systems. The Banff Patellar Instability Instrument (BPII) 2.0 and Norwich Patellar Instability (NPI) scores were explicitly created to meet the need to evaluate PF instability. Different patient-reported outcome measurements (PROMs) are used to evaluate anterior knee problems. OBJECTIVES: To test the validity and reliability of the Turkish version of the BPII 2.0 and NPI score. STUDY DESIGN AND METHODS: Fifty-one patients that operated for PF instability, older than eighteen years old, were included in this study. Turkish translation of the BPII 2.0 and NPI scores was undertaken through translation into Turkish by an independent translator. Two tests were repeated seven days apart. Intraclass correlation coefficient (ICC) was used for test-retest reliability. Internal consistency was analyzed using Cronbach's alpha. Validity was assessed by correlating the Kujala and Lysholm knee scores. RESULTS: Fifty-one patients (34 females/17 males), the average age was 25 ± 7, were included in this study. Cronbach's alpha value was 0.829 for BPII 2.0 and 0.843 for NPI for the first time answered by patients. ICC values applied to evaluate test-retest reliability were 0.904 (p < 0.05) for BPII 2.0 and 0.915 (p < 0.05) for NPI. There was a moderate correlation between the BPII 2.0 Turkish version and the Kujala score. There was a very high correlation between the Turkish version of the BPII 2.0 and Lysholm knee scores. An excellent negative correlation was found between Norwich and Kujala scores (r = -0.819, p < 0.05). The correlation coefficient between Norwich and Lysholm scores was -0.662, indicating a high negative correlation (p < 0.05). The correlation coefficients between the Turkish version of BPII 2.0 and NPI were -0.533 (p < 0.05). CONCLUSIONS: The Turkish version of the BPII 2.0 and NPI score is a reliable and valid instrument for Turkish-speaking patients with patellofemoral instability.


Assuntos
Instabilidade Articular , Articulação Patelofemoral , Masculino , Feminino , Humanos , Adolescente , Adulto Jovem , Adulto , Articulação Patelofemoral/cirurgia , Instabilidade Articular/diagnóstico , Instabilidade Articular/cirurgia , Reprodutibilidade dos Testes , Medidas de Resultados Relatados pelo Paciente , Idioma , Inquéritos e Questionários
18.
Am J Hum Genet ; 86(5): 789-96, 2010 May 14.
Artigo em Inglês | MEDLINE | ID: mdl-20451171

RESUMO

We present an autosomal-recessive frontonasal dysplasia (FND) characterized by bilateral extreme microphthalmia, bilateral oblique facial cleft, complete cleft palate, hypertelorism, wide nasal bridge with hypoplasia of the ala nasi, and low-set, posteriorly rotated ears in two distinct families. Using Affymetrix 250K SNP array genotyping and homozygosity mapping, we mapped this clinical entity to chromosome 12q21. In one of the families, three siblings were affected, and CNV analysis of the critical region showed a homozygous 3.7 Mb deletion containing the ALX1 (CART1) gene, which encodes the aristaless-like homeobox 1 transcription factor. In the second family we identified a homozygous donor-splice-site mutation (c.531+1G > A) in the ALX1 gene, providing evidence that complete loss of function of ALX1 protein causes severe disruption of early craniofacial development. Unlike loss of its murine ortholog, loss of human ALX1 does not result in neural-tube defects; however, it does severely affect the orchestrated fusion between frontonasal, nasomedial, nasolateral, and maxillary processes during early-stage embryogenesis. This study further expands the spectrum of the recently recognized autosomal-recessive ALX-related FND phenotype in humans.


Assuntos
Fissura Palatina/genética , Proteínas de Homeodomínio/genética , Microftalmia/genética , Anormalidades Musculoesqueléticas/genética , Mutação , Orelha/anormalidades , Face/anormalidades , Homozigoto , Humanos , Fenótipo , Sítios de Splice de RNA/genética , Deleção de Sequência/genética
19.
J Reprod Med ; 58(11-12): 511-6, 2013.
Artigo em Inglês | MEDLINE | ID: mdl-24568046

RESUMO

OBJECTIVE: To determine the role of vitamin D for preventing or reducing postoperative adhesions. STUDY DESIGN: The uterine horn adhesion model was carried out in 24 female Wistar rats. The animals were randomized into 4 groups: (1) control, (2) Ringer's lactate, (3) olive oil, and (4) vitamin D. Adhesion grade and histologic findings of adhesion-carrying tissues were evaluated, and groups were compared according to these parameters. RESULTS: Rats treated with vitamin D had less adhesion and lower inflammation grade when compared to the control and Ringer's lactate groups, and the results were statistically significant (p < 0.05). On the other hand, no difference was detected between the groups according to the fibrosis score. CONCLUSION: Vitamin D decreased postsurgical adhesion scores by both visual scores and histologic analyses in a rat model. Further experimental and clinical trials are required to confirm these results.


Assuntos
Aderências Teciduais/prevenção & controle , Doenças Uterinas/prevenção & controle , Vitamina D/administração & dosagem , Animais , Modelos Animais de Doenças , Feminino , Fibrose/patologia , Inflamação/patologia , Soluções Isotônicas/administração & dosagem , Azeite de Oliva , Óleos de Plantas/administração & dosagem , Ratos , Ratos Wistar , Lactato de Ringer , Aderências Teciduais/patologia , Doenças Uterinas/patologia , Útero/patologia , Útero/cirurgia
20.
Turk J Gastroenterol ; 34(4): 427-432, 2023 04.
Artigo em Inglês | MEDLINE | ID: mdl-36789980

RESUMO

BACKGROUND: The purpose of this study was to determine the antimicrobial status of stocked clinical Helicobacter pylori isolates by using antibiotic gradient test and subsequently identify the mutations that cause clarithromycin resistance by DNA sequencing. Turkey is a transition zone between Europe and Asia; therefore, we also aimed to show both continents' mutations in Turkish isolates. METHODS: One hundred forty-seven H. pylori isolates that had been stocked at -80°C between 1998 and 2008 were randomly selected and included in the study. Antibiotic susceptibility tests were performed using antibiotic gradient test for clarithromycin, amoxicillin, tetracycline, metronidazole, and levofloxacin. A polymerase chain reaction targeting the region of 23S rRNA gene domain V of H. pylori was performed and the mutations responsible for resistance against clarithromycin were defined by sequencing. RESULTS: All of the tested isolates were found susceptible to amoxicillin and tetracycline. However, clarithromycin, metronidazole, and levofloxacin resistance were detected in 28.5% (42/147), 44.8% (66/147), and 23.1% (34/147) of the isolates, respectively. Point mutations were detected in 46 isolates (46/147, 31.2%). The majority of mutations were defined as A2143G (19/46, 41.3%), A2142G (14/46, 30.4%), and A2142C (7/46, 15.2%), respectively. T2188C, T2182C, G1949A, G1940A, and C1944T mutations were also identified in the isolates. CONCLUSION: In conclusion, the most common mutations associated with clarithromycin resistance in H. pylori have been identified as A2143G, A2142G, and A2142C which are the most frequently detected mutations in European countries. Same mutations and other mutations like T2182C have also been detected frequently in north-eastern countries and China. Since Turkey is a transition zone between Europe and Asia, Turkey might have strains that carry mutations found in both continents.


Assuntos
Infecções por Helicobacter , Helicobacter pylori , Humanos , Claritromicina/farmacologia , Metronidazol/farmacologia , Levofloxacino/farmacologia , Infecções por Helicobacter/tratamento farmacológico , Farmacorresistência Bacteriana/genética , Antibacterianos/farmacologia , Antibacterianos/uso terapêutico , Amoxicilina/farmacologia , Tetraciclina/farmacologia , RNA Ribossômico 23S/genética , Testes de Sensibilidade Microbiana
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