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1.
Turk J Pharm Sci ; 21(3): 252-258, 2024 Jul 12.
Artigo em Inglês | MEDLINE | ID: mdl-38994879

RESUMO

Objectives: Plant extracts are important natural resources that may have antimicrobial and antibiofilm effects against pathogens. This study was conducted to investigate the in vitro antimicrobial activities of methanol extracts of some medicinal plants (Achillea nobilis subspecies neilreichii (A. Kern.) Velen., Aetheorhiza bulbosa (L.) Cass, Allium paniculatum L, Asphodelus aestivus Brot., Ballota nigra L., Cistus laurifolius L., Cistus salviifolius L., Dioscorea communis (L.) Caddick and Wilkin, Galium verum L., Hypericum triquetrifolium Turra, Paliurus spina-christi Mill., Primula vulgaris Huds. subspecies rubra (Sm.) Arcang., Ranunculus arvensis L. and Teucrium polium L.) from Balikesir province in Türkiye. Materials and Methods: Preliminary antimicrobial activity screening was conducted for all extracts. Antibiofilm activity studies were conducted on mature Candida albicans biofilms. Moreover, the cytotoxicities of A. paniculatum flower extract on A549 and Vero cell lines were determined using a colorimetric tetrazolium-based assay. Results: A. paniculatum flower, P. vulgaris root, C. laurifolius, C. salviifolius, and A. nobilis displayed good activity [minimum inhibitory concentrations (MIC): 9.75, 156, 312, 312 and 312 µg/mL, respectively] against C. albicans American Type Culture Collection 10231. Biofilm studies were conducted on these plant extracts. The methanol extract of A. paniculatum flower decreased the number of C. albicans [colony-forming unit (CFU)/mL] in mature biofilm statistically at 32 x MIC and higher concentrations (p < 0.01). A. paniculatum flower extract had a cytotoxic effect (killing more than 50% of cells) at high concentrations, and its effect on Vero cells was similar to that on A549 cells. Conclusion: This study demonstrated the importance of the methanol extract of A. paniculatum flower as a natural alternative against C. albicans infections, including biofilms.

2.
J Pediatr Ophthalmol Strabismus ; 61(3): e23-e27, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-38788144

RESUMO

A 6-month-old female infant with megalophthalmos was referred with the suspicion of congenital glaucoma. Refractive measurements obtained with handheld autorefractometry were -7.00 -2.00 × 90° in the right eye and -6.00 -2.00 × 100° in the left eye and ultrasonic axial lengths were 22.50 mm in both eyes. Intraocular pressures and vertical and horizontal corneal diameters of the proband were 11 mm Hg, 11 mm, and 11.50 mm in both eyes, respectively. She was diagnosed as having early-onset high myopia. Her father also had degenerative high myopia (-12.00 diopters) in the right eye, bilateral congenital lens opacities, and retinal detachment in the left eye. Her mother was emmetropic with normal eye examination results. Clinical exome sequencing analysis revealed a novel ENST00000380518.3 c.3528_3530 delins GACCATTAGCA (Chr12:48369813: GCA > TGCTAATGGTC) variant in the collagen type II alpha 1 chain (COL2A1) on chromosome 12q13 (OMIM 108300), consistent with the Stickler syndrome type 1. Subsequent segregation analysis revealed paternal inheritance. Although many pathogenic null variants have been described within the COL2A1 gene, there is currently no documented literature pertaining to this specific variant, making this the inaugural report of its manifestation in scientific discourse. [J Pediatr Ophthalmol Strabismus. 2024;61(3):e23-e27.].


Assuntos
Artrite , Colágeno Tipo II , Doenças do Tecido Conjuntivo , Perda Auditiva Neurossensorial , Linhagem , Feminino , Humanos , Lactente , Artrite/genética , Artrite/diagnóstico , Colágeno Tipo II/genética , Doenças do Tecido Conjuntivo/genética , Doenças do Tecido Conjuntivo/diagnóstico , DNA/genética , Análise Mutacional de DNA , Sequenciamento do Exoma , Perda Auditiva Neurossensorial/genética , Perda Auditiva Neurossensorial/diagnóstico , Pressão Intraocular/fisiologia , Mutação , Descolamento Retiniano/genética , Descolamento Retiniano/diagnóstico , Turquia
4.
Pediatr Nephrol ; 39(2): 483-491, 2024 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-37462743

RESUMO

BACKGROUND: One of the most common bacterial infections in childhood is urinary tract infection (UTI). Toll-like receptors (TLRs) contribute to immune response against UTI recognizing specific pathogenic agents. Our aim was to determine whether soluble TLR4 (sTLR4), soluble TLR5 (sTLR5) and interleukin 8 (IL-8) can be used as biomarkers to diagnose UTI. We also aimed to reveal the relationship between urine Heat Shock Protein 70 (uHSP70) and those biomarkers investigated in this study. METHODS: A total of 802 children from 37 centers participated in the study. The participants (n = 282) who did not meet the inclusion criteria were excluded from the study. The remaining 520 children, including 191 patients with UTI, 178 patients with non-UTI infections, 50 children with contaminated urine samples, 26 participants with asymptomatic bacteriuria and 75 healthy controls were included in the study. Urine and serum levels of sTLR4, sTLR5 and IL-8 were measured at presentation in all patients and after antibiotic treatment in patients with UTI. RESULTS: Urine sTLR4 was higher in the UTI group than in the other groups. UTI may be predicted using 1.28 ng/mL as cut-off for urine sTLR4 with 68% sensitivity and 65% specificity (AUC = 0.682). In the UTI group, urine sTLR4 levels were significantly higher in pyelonephritis than in cystitis (p < 0.0001). Post-treatment urine sTLR4 levels in the UTI group were significantly lower than pre-treatment values (p < 0.0001). CONCLUSIONS: Urine sTLR4 may be used as a useful biomarker in predicting UTI and subsequent pyelonephritis in children with UTI. A higher resolution version of the Graphical abstract is available as Supplementary information.


Assuntos
Pielonefrite , Infecções Urinárias , Criança , Humanos , Interleucina-8/urina , Receptor 4 Toll-Like , Infecções Urinárias/diagnóstico , Infecções Urinárias/urina , Pielonefrite/diagnóstico , Biomarcadores
5.
Reprod Sci ; 31(3): 803-810, 2024 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-37848644

RESUMO

MicroRNA is associated with angiogenesis, invasion, proliferation, and vascular endothelial remodeling of various diseases. We aimed to investigate serum MicroRNA (miRNA) levels in preeclampsia (PE) and to determine whether any changes in miRNA levels are useful in predicting early onset preeclampsia (EOPE) and adverse perinatal outcomes. A total of 89 pregnant patients were enrolled in this prospective case-control study (55 PE and 34 healthy controls). miR-17, miR-20a, miR-20b, miR126, miR155, miR-200, miR-222, and miR-210 levels were studied in maternal serum in preeclamptic pregnant women. Multiple logistic regression analyses analyzed the risk factors which are associated with EOPE and adverse maternal outcomes. The Real-time RT-PCR method was used to determine maternal serum miRNA levels. Serum miR-17, miR-20a, miR-20b, miR126, and miR-210 levels were significantly higher in PE than the control group (p < .001, p < .001, p < .001, p < .001 and p = .047 respectively). Increased miR-17, miR-20a, and miR-20b levels were independently associated with PE (OR: 0.642, 95%Cl: 0.486-0.846, p = .002; OR: 0.899, 95%Cl: 0.811-0.996, p = .042 and OR: 0.817, 95%Cl: 0.689-0.970, p = .021). Increased miR-17 and miR-126 levels were negatively correlated with serum EOPE in PE (r = -.313, p = .020), and increased miR-210 levels were significantly positively correlated with EOPE in PE (r = .285, p = .005). Increased expression of serum miR-17, miR-20a, miR-20b, miR126, and miR-210 were found to be associated with PE, also increased expression of miR-17, miR-20a, and miR-20b were to be predicted with PE, also increased maternal serum miR-17 and miR-126 expressions were negatively correlated and increased miR-210 expression was positively correlated with EOPE in PE women.


Assuntos
Amarelo de Eosina-(YS)/análogos & derivados , MicroRNAs , Fosfatidiletanolaminas , Pré-Eclâmpsia , Humanos , Gravidez , Feminino , MicroRNAs/metabolismo , Pré-Eclâmpsia/diagnóstico , Pré-Eclâmpsia/genética , Estudos de Casos e Controles , Endotélio Vascular/metabolismo , Angiogênese , Biomarcadores
6.
J Pediatr Hematol Oncol ; 45(5): e660-e661, 2023 07 01.
Artigo em Inglês | MEDLINE | ID: mdl-36706297

RESUMO

BACKGROUND: Delayed diagnosis of hypothyroidism may result in atypical presentations. Here, we report a case with decreased serum level and activity of von Willebrand factor due to untreated profound hypothyroidism. OBSERVATION: A 9-year-old girl, presented with prolonged gingival bleeding after dental extraction. Clinical findings of the case were consistent with hypothyroidism, and the laboratory workup results revealed decreased serum level and activity of von Willebrand factor associated with profound hypothyroidism. Restoration of euthyroidism normalized the coagulation parameters. CONCLUSION: Delayed diagnosis of hypothyroidism may lead to atypical presentations such as bleeding diathesis. Profound hypothyroidism should be considered in the differential diagnosis of acquired von Willebrand disease to avoid undue treatment.


Assuntos
Transtornos Hemorrágicos , Hipotireoidismo , Doenças de von Willebrand , Feminino , Humanos , Criança , Fator de von Willebrand , Hipotireoidismo/complicações , Doenças de von Willebrand/complicações , Extração Dentária/efeitos adversos
7.
Pediatr Nephrol ; 38(3): 791-799, 2023 03.
Artigo em Inglês | MEDLINE | ID: mdl-35849222

RESUMO

BACKGROUND: The accuracy of conventional urinalysis in diagnosing urinary tract infection (UTI) in children is limited, leading to unnecessary antibiotic exposure in a large fraction of patients. Urinary heat shock protein 70 (uHSP70) is a novel marker of acute urinary tract inflammation. We explored the added value of uHSP70 in discriminating UTI from other infections and conditions confused with UTI. METHODS: A total of 802 children from 37 pediatric centers in seven countries participated in the study. Patients diagnosed with UTI (n = 191), non-UTI infections (n = 178), contaminated urine samples (n = 50), asymptomatic bacteriuria (n = 26), and healthy controls (n = 75) were enrolled. Urine and serum levels of HSP70 were measured at presentation in all patients and after resolution of the infection in patients with confirmed UTI. RESULTS: Urinary (u)HSP70 was selectively elevated in children with UTI as compared to all other conditions (p < 0.0001). uHSP70 predicted UTI with 89% sensitivity and 82% specificity (AUC = 0.934). Among the 265 patients with suspected UTI, the uHSP70 > 48 ng/mL criterion identified the 172 children with subsequently confirmed UTI with 90% sensitivity and 82% specificity (AUC = 0.862), exceeding the individual diagnostic accuracy of leukocyturia, nitrite, and leukocyte esterase positivity. uHSP70 had completely normalized by the end of antibiotic therapy in the UTI patients. Serum HSP70 was not predictive. CONCLUSIONS: Urine HSP70 is a novel non-invasive marker of UTI that improves the diagnostic accuracy of conventional urinalysis. We estimate that rapid urine HSP70 screening could spare empiric antibiotic administration in up to 80% of children with suspected UTI. A higher resolution version of the Graphical abstract is available as Supplementary information.


Assuntos
Infecções Urinárias , Sistema Urinário , Humanos , Criança , Infecções Urinárias/tratamento farmacológico , Urinálise , Antibacterianos/uso terapêutico , Proteínas de Choque Térmico HSP70 , Sensibilidade e Especificidade
8.
Dokl Biochem Biophys ; 513(Suppl 1): S1-S7, 2023 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-38472669

RESUMO

Lung cancer is one of the cancer types with the highest mortality worldwide. The most frequently mutated genes known to be clinically important in lung cancers are EGFR, BRAF, and KRAS genes. Therefore, the therapeutic agents developed are directed against variants that cause over-activation of the EGFR-KRAS-BRAF-BRAF-MEK/ERK signalling pathway. However, different responses of patients to Tyrosine Kinase Inhibitors (TKIs) suggest that new prognostic biomarkers should be defined and epigenetic mechanisms may be related to this situation. METHODS: In this study, sequence analyses of AGO2, DICER, and DROSHA genes involved in miRNA biogenesis and EGFR, KRAS, and BRAF genes were performed in 35 patients with sporadic lung cancer. RESULTS: We found variations in genes involved in miRNA biogenesis that have not been previously reported in the literature. In addition, we found 4 different variants in the EGFR gene that have been described in the literature. In addition, a statistically significant association was found between the presence of mutations in at least one of the genes involved in miRNA biogenesis and metastasis (p:0.02). CONCLUSIONS: In conclusion, genomic dysregulation of key miRNA biogenesis genes may be one of the possible reasons for the differential response of patients to therapeutic agents and the development of metastasis in EGFR wild type tumours.


Assuntos
Carcinoma , Neoplasias Pulmonares , MicroRNAs , Humanos , Proteínas Proto-Oncogênicas B-raf/genética , Proteínas Proto-Oncogênicas B-raf/metabolismo , MicroRNAs/genética , Receptores ErbB/genética , Receptores ErbB/metabolismo , Proteínas Proto-Oncogênicas p21(ras)/genética , Proteínas Proto-Oncogênicas p21(ras)/metabolismo , Neoplasias Pulmonares/genética , Neoplasias Pulmonares/metabolismo , Neoplasias Pulmonares/patologia , Mutação , Carcinoma/genética , Genes Reguladores , Pulmão/metabolismo
9.
Postepy Dermatol Alergol ; 39(5): 976-979, 2022 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-36457675

RESUMO

Introduction: Primary immunodeficiency diseases (PIDs) are a group of heterogeneous disorders that result from one or more immune system abnormalities and have a wide range of clinical manifestations. Aim: To evaluate the demographic, clinical, and radiological features of adult patients with PID. Material and methods: We retrospectively reviewed the data of adult patients with PID who had been receiving immunoglobulin therapy at the adult allergy and immunology outpatient clinic between November 2017 and April 2022. Results: Of the 23 patients included, 4 (17.4%) were females and 19 (82.6%) were males. The mean age was 38.7 ±16.2 (range: 18-75) years. Time of delay in the diagnosis of immunodeficiency was 14.9 ±15.7 (range: 0.5-49) years. The most common complaint on admission was sinopulmonary infection, and 65% of the patients had bronchiectasis. A total of 6 patients had a history of lymphoma, and 3 of them were diagnosed during the study period. Recurrence of lymphoma was observed in 1 patient. Conclusions: Patients with PID frequently have findings related to more than one organ system, and the diagnosis is often delayed in adults. Recognition and increased awareness of these manifestations is essential for early diagnosis and reducing morbidity and mortality.

10.
Asia Pac Allergy ; 12(4): e40, 2022 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-36452014

RESUMO

Background: Hereditary angioedema (HAE) is a rare autosomal dominant disorder caused by C1-inhibitor deficiency. It is characterized by recurrent attacks of cutaneous and upper respiratory tract swelling, and abdominal pain due to mucosal edema. Early detection and treatment prevent unnecessary interventions, improves quality of life, and prevents potentially fatal attacks. Objective: The present study aims to investigate physicians level of knowledge and awareness regarding HAE. Methods: A questionnaire about HAE was applied to 393 physicians from a university hospital. Participants were requested to choose one or several answers to multiple-choice questions. Results: Seven and three tenths percent of study participants stated to have never heard of HAE. Twenty-seven physicians (7.4%) chose the exact correct answers regarding diagnostic tests, and 2 (0.8%) chose the exact correct answers regarding emergency management. A composite of internists, pediatrists and emergency medicine specialists had a significantly higher mean score than other physicians (p = 0.047). Physicians from internal medical sciences scored significantly higher than physicians from surgical medical sciences (p = 0.022). Conclusion: The present study reveals that physician awareness about HAE is low, and physicians misdiagnose HAE attacks as histaminergic angioedema attacks, and therefore provide ineffective treatment. Although HAE is a rare disease, physician awareness must be increased, because early diagnosis and effective treatment are vital for the patients.

11.
Allergol Immunopathol (Madr) ; 50(6): 122-127, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-36335455

RESUMO

BACKGROUND: The European Network for Drug Allergy (ENDA) proposed a consensus document for hypersensitivity reactions to nonsteroidal anti-inflammatory drugs (NSAIDs) in 2011. A subgroup of patients with NSAIDs-exacerbated respiratory disease (NERD) develop urticaria/angioedema type reactions in response to NSAIDs. The Kalyoncu classification might be a novel option to classify patients with NSAID hypersensitivity (NH). In this study, we compare the ENDA and the Kalyoncu classifications. METHODS: This study enrolled a total of 196 patients. NH reaction types were categorized as asthma, rhinitis, urticaria/angioedema and anaphylaxis. Based on the reaction history and oral provocation test findings, patients were grouped according to ENDA and Kalyoncu classifications. RESULTS: The mean age of the 196 patients was 40.32±13.28 years, and 130 (66.3%) of them were female. Under the ENDA and Kalyoncu classifications, the most common NH subgroups were NERD (32%), and isolated NH (34.2%), the least prevalent NH subgroups were single NSAID-induced delayed reactions (SNIDR) (1.5%), and pseudo Samter's syndrome (11.7%). CONCLUSIONS: Our research revealed that the Kalyoncu classification is more descriptive of patients with NERD exhibiting urticaria/angioedema-type reactions. It also provides future risk assessment for development of NERD. For controversial cases, the Kalyoncu classification can be utilized as a new complimentary option alone or in conjunction with ENDA classification.


Assuntos
Anafilaxia , Angioedema , Hipersensibilidade a Drogas , Rinite , Urticária , Humanos , Feminino , Adulto , Pessoa de Meia-Idade , Masculino , Hipersensibilidade a Drogas/diagnóstico , Anti-Inflamatórios não Esteroides/efeitos adversos , Anafilaxia/diagnóstico , Anafilaxia/induzido quimicamente , Angioedema/diagnóstico , Urticária/diagnóstico
12.
Clin Exp Dermatol ; 47(6): 1218-1221, 2022 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-35285048

RESUMO

Skin manifestations can serve as critical clues for early diagnosis of inborn errors of immunity. We report a patient with a double novel mutation in the BTK gene, who presented with skin abscesses caused by Pseudomonas aeruginosa. This case illustrates the importance of immune evaluation in patients with therapy-resistant skin lesions.


Assuntos
Agamaglobulinemia , Doenças Genéticas Ligadas ao Cromossomo X , Dermatopatias , Abscesso/genética , Agamaglobulinemia/diagnóstico , Agamaglobulinemia/genética , Doenças Genéticas Ligadas ao Cromossomo X/diagnóstico , Doenças Genéticas Ligadas ao Cromossomo X/genética , Humanos , Masculino , Mutação , Pseudomonas
13.
Cureus ; 14(1): e20913, 2022 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-35154914

RESUMO

INTRODUCTION: Elderly patients have increased morbidity and mortality compared to younger patients due to existing comorbid diseases and chronic immunosuppression. Therefore, the option of kidney transplantation for renal replacement therapy in elderly patients is still being controversial. Our aim in this study was to evaluate graft function, graft and patient survival, and associated factors in kidney transplant recipients over 65 years of age, at 11 years of follow-up. METHODS: The study included 53 patients aged 65-76 years, out of a total of 1319 patients who underwent live kidney transplantation in the Organ Transplant Center of Acibadem International Hospital between October 2010 and July 2021. Demographic characteristics and creatinine values were recorded. Graft survival rates and patient survival rates at one, three, and five years were analyzed. RESULTS: Fifty-three patients, 14 female, 39 male, aged 65-76 years were included in the study. The follow-up period of the patients was 7-125 months. During the follow-up, 20 patients died. Graft loss occurred in two of 20 patients who died, and 18 patients died with working grafts. Graft loss developed in two of the 33 surviving patients. In the whole group, one-, three-, and five-year patient survival rates were 94%, 81%, and 76%, respectively. CONCLUSION: These results emphasize that kidney transplantation is a viable treatment option in elderly patients who have been well evaluated before kidney transplantation.

14.
Eur Surg Res ; 63(1): 46-54, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-35100577

RESUMO

OBJECTIVES: The objective of this study was to compare the long-term graft outcomes of left-versus-right donor nephrectomy with multiple renal arteries (MRAs), and therefore creating a reference for the expansion of the potential living kidney donor pool. METHODS: Laparoscopic live donor nephrectomy cases between May 2010 and October 2020 were included in this retrospective cross-sectional study. The data relating to donor and recipient demographics, surgical and anatomical characteristics, recipient, and graft status were retrieved and compared using nonparametric statistical methods and multivariate regression. Analyses were fit for survival factors. RESULTS: A total of 1,009 recipients were included in this retrospective cross-sectional study with their donors. 16.7% of the donors had been discovered to have more than one renal artery supplying the donated kidney. The acute rejection rate was 12.8%. Death-censored graft survival at postoperative year 5 for single renal artery (SRA) transplants was 89.6%, 89.5% for left-sided MRAs, and 88.2% for right-sided ones. CONCLUSIONS: Both right donor nephrectomy and left donor nephrectomy are safe procedures with no significant negatively impacted rates for neither survival nor complications of the recipients in the long-term, compared to SRA ones.


Assuntos
Laparoscopia , Doadores Vivos , Estudos Transversais , Sobrevivência de Enxerto , Humanos , Rim/irrigação sanguínea , Nefrectomia/métodos , Artéria Renal/cirurgia , Estudos Retrospectivos , Resultado do Tratamento
15.
Pediatr Int ; 64(1): e15089, 2022 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-34882919

RESUMO

BACKGROUND: The first afebrile seizures in children are an important and common reason for emergency department admissions. We aim to examine the presentation, laboratory/neurodiagnostic investigation, and emergency management of children with first afebrile seizures. METHODS: The retrospective study included 333 patients aged 1 month to 18 years admitted with a first afebrile seizure to the pediatric emergency department of Prof. Dr. Cemil Tascioglu City Hospital between January 2017 and January 2020. Age, gender, seizure duration and type, treatments for seizures, laboratory, neurophysiological, and radiological investigations, ward or intensive care unit hospitalizations, and antiepileptic drugs on discharge were recorded. RESULTS: The average age of the patients was 81.6 ± 62.9 months; 187 (56.2%) were male and 146 (43.8%) were female. Two hundred and sixty-one (78.4%) patients had only one seizure. In 45 (13.5%) of the patients, the seizure recurred in the emergency department. Hypoglycemia, hyponatremia, and hypocalcemia were detected in 13 (3.9%) patients. Patients with clinically significant cranial computed tomography results were at an increased risk for seizures lasting longer than 5 min. Patients with focal seizures had more recurrences, were given more antiepileptic drugs during the emergency, had better known etiology, more intensive care unit hospitalization, and greater post-discharge antiepileptic drug prescription. CONCLUSIONS: Biochemical abnormalities remain in the background in the etiology of afebrile seizures. Patients with abnormal neuroimaging on cranial tomography tended to have longer seizures. Patients with focal seizures followed a more complicated course as they had more recurrences and more hospitalization in the intensive care unit.


Assuntos
Assistência ao Convalescente , Anticonvulsivantes , Anticonvulsivantes/uso terapêutico , Criança , Pré-Escolar , Feminino , Humanos , Lactente , Masculino , Alta do Paciente , Recidiva , Estudos Retrospectivos , Convulsões/tratamento farmacológico
16.
J Laparoendosc Adv Surg Tech A ; 31(11): 1309-1314, 2021 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-33471592

RESUMO

Background: A limited number of publications are available in the literature regarding laparoscopic living donor nephrectomy with vaginal extraction (LLDN-VE) for kidney transplantation. The aim of this study was to compare long-term recipient outcomes of standard laparoscopic living donor nephrectomy (S-LLDN) and LLDN-VE. Methods: A total of 652 patients [119 LLDN-VE (18.3%) and 533 S-LLDN (81.7%)] were included in this retrospective cross-sectional study. The data related to donor and recipient demographics, surgical and anatomical characteristics, and recipient and graft status were retrieved and compared using nonparametric statistical methods. Kaplan-Meier and Cox proportional hazards regression analyses were applied to compute survival according to the surgical technique. Results: The mean follow-up duration was 73.0 ± 25.4 months for S-LLDN and 69.8 ± 20.4 months for LLDN-VE recipients. The main determinants of long-term outcomes were the serum creatinine (SCr) levels, death-censored graft survival, and recipient survival at the end of the post-op 5th year. LLDN-VE recipients' discharge SCr was found to be statistically lower (P = .049) than S-LLDN patients. Graft survival rates censored for death were 93.8% for the S-LLDN and 93.3% for the LLDN-VE recipients. Cox regression analysis showed significance for younger donor age (P = .010) with the application of 17 parameters, indicating better graft survival outcomes for kidney recipients with younger donors. Conclusions: Compared with the standard method, the long-term results of LLDN-VE are in accordance with or could even be more advantageous than S-LLDN in certain aspects. LLDN-VE appears to be a feasible, safe, and cosmetically superior approach with no negative postoperative sexual or morbid effects on the donor.


Assuntos
Laparoscopia , Doadores Vivos , Estudos Transversais , Feminino , Humanos , Rim , Nefrectomia/efeitos adversos , Estudos Retrospectivos
17.
Am J Hum Genet ; 102(1): 27-43, 2018 01 04.
Artigo em Inglês | MEDLINE | ID: mdl-29276006

RESUMO

Locus heterogeneity characterizes a variety of skeletal dysplasias often due to interacting or overlapping signaling pathways. Robinow syndrome is a skeletal disorder historically refractory to molecular diagnosis, potentially stemming from substantial genetic heterogeneity. All current known pathogenic variants reside in genes within the noncanonical Wnt signaling pathway including ROR2, WNT5A, and more recently, DVL1 and DVL3. However, ∼70% of autosomal-dominant Robinow syndrome cases remain molecularly unsolved. To investigate this missing heritability, we recruited 21 families with at least one family member clinically diagnosed with Robinow or Robinow-like phenotypes and performed genetic and genomic studies. In total, four families with variants in FZD2 were identified as well as three individuals from two families with biallelic variants in NXN that co-segregate with the phenotype. Importantly, both FZD2 and NXN are relevant protein partners in the WNT5A interactome, supporting their role in skeletal development. In addition to confirming that clustered -1 frameshifting variants in DVL1 and DVL3 are the main contributors to dominant Robinow syndrome, we also found likely pathogenic variants in candidate genes GPC4 and RAC3, both linked to the Wnt signaling pathway. These data support an initial hypothesis that Robinow syndrome results from perturbation of the Wnt/PCP pathway, suggest specific relevant domains of the proteins involved, and reveal key contributors in this signaling cascade during human embryonic development. Contrary to the view that non-allelic genetic heterogeneity hampers gene discovery, this study demonstrates the utility of rare disease genomic studies to parse gene function in human developmental pathways.


Assuntos
Anormalidades Craniofaciais/genética , Nanismo/genética , Heterogeneidade Genética , Deformidades Congênitas dos Membros/genética , Anormalidades Urogenitais/genética , Via de Sinalização Wnt/genética , Adolescente , Adulto , Sequência de Bases , Criança , Pré-Escolar , Segregação de Cromossomos/genética , Anormalidades Craniofaciais/diagnóstico , Diagnóstico Diferencial , Nanismo/diagnóstico , Feminino , Genes Dominantes , Estudos de Associação Genética , Humanos , Deformidades Congênitas dos Membros/diagnóstico , Masculino , Pessoa de Meia-Idade , Mutação de Sentido Incorreto/genética , Fenótipo , Anormalidades Urogenitais/diagnóstico
18.
Mitochondrial DNA A DNA Mapp Seq Anal ; 28(3): 424-433, 2017 05.
Artigo em Inglês | MEDLINE | ID: mdl-27159716

RESUMO

Daphnia is a freshwater zooplankton species with controversial taxonomy due to its high morphological variation linked to environmental factors and inter-specific hybridization and polyploidy in some groups. The aim of the present study is to examine molecular diversity of some Daphnia species in Turkey and to establish DNA barcodes of Turkish Daphnia species. Sequence analysis was performed using 540 bp region of cytochrome oxidase subunit I gene of mitochondrial DNA. A total of 34 haplotypes have been identified for Turkey. Daphnia pulex complex was divided into two clades with 16.1% sequence divergence according to molecular taxonomy based on Kimura 2-parameter. The clade which was molecularly diverged from Daphnia pulex with 16.1% sequence divergence was found to show 99% similarity with Daphnia cf. pulicaria (sensu Alonso 1996) instead of Daphnia pulicaria Forbes, 1893. Furthermore, this study has contributed to Turkish zoogeography by demonstrating the distribution of Daphnia species in Turkey.


Assuntos
Daphnia/genética , Variação Genética , Haplótipos , Filogenia , Animais , DNA Mitocondrial , Complexo IV da Cadeia de Transporte de Elétrons/genética , Feminino , Análise de Sequência de DNA , Turquia
19.
Gastroenterol Res Pract ; 2016: 4295029, 2016.
Artigo em Inglês | MEDLINE | ID: mdl-27651789

RESUMO

The purpose of this prospective study is to determine the preoperative plasma D-dimer and serum Carcinoembryonic Antigen (CEA) levels of patients scheduled for curative surgical resection for colorectal cancer and to evaluate the significance of these levels on the prognosis and postoperative survival rate. One hundred sixty-five patients with colorectal cancer, who were scheduled to have elective resection between January 2008 and January 2011, were included in the study. A significant increase was observed in the D-dimer levels, particularly in poorly differentiated tumors. The distance covered by the tumor inside the walls of the colon and rectum (T-stage) was significant for both D-dimer and CEA levels. As the T-stage increased, there was also a significant increase in the D-dimer and CEA levels. A high significance and correlation level was detected between the TNM staging and both D-dimer and CEA. A significant relationship was found between the advanced tumor stage and short postoperative survival rate of patients with colorectal cancer. Therefore, the analysis of preoperative D-dimer and CEA levels can be useful in predicting the stage and differentiation of the tumor and the postoperative survival rate.

20.
Case Rep Nephrol Dial ; 6(1): 46-52, 2016.
Artigo em Inglês | MEDLINE | ID: mdl-27066494

RESUMO

Brown tumors are focal bone lesions, encountered in patients with uncontrolled hyperparathyroidism. They can be located in any part of the skeleton. Clinically significant lesions in the craniofacial bones are rare. Craniofacial involvement may cause facial disfiguration and compromise social ease of the patient and normal functions, such as chewing, talking, and breathing. In this case report, we present a patient with a brown tumor of the craniofacial bones provoked by secondary hyperparathyroidism and review the last 10 years of craniofacial brown tumors associated with secondary hyperparathyroidism in the English literature.

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