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1.
Endocrine ; 85(3): 1407-1416, 2024 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-39020240

RESUMO

PURPOSE: 17α Hydroxylase/17,20 lyase deficiency (17OHD) is a rare form of congenital adrenal hyperplasia, typically diagnosed in late adolescence with symptoms of pubertal delay and hypertension. This study aimed to determine the clinical and laboratory characteristics of 17OHD cases and gather data on disease management. METHODS: Data from 97 nationwide cases were analyzed using the CEDD-NET web system. Diagnostic, follow-up findings, and final heights of patients were evaluated. RESULTS: Mean age at admission was 13.54 ± 4.71 years, with delayed puberty as the most common complaint. Hypertension was detected in 65% at presentation; hypokalemia was present in 34%. Genetic analysis revealed Exon 1-6 homozygous deletion as the most frequent mutation, identified in 42 cases. Hydrocortisone replacement was universal; pubertal replacement was administered to 66 cases. Antihypertensive treatment was required in 57 (90%) patients. Thirty-seven cases reached final height, with an average SD of 0.015 in 46,XX and -1.43 in 46,XY. Thelarche and pubarche did not develop properly in some cases despite estradiol treatment. CONCLUSION: This study represents the largest cohort of pediatric cases of 17-hydroxylase deficiency (17OHD) documented in the literature. Hypertension and hypokalemia can serve as guiding indicators for early diagnosis.The final height is typically considered to be normal. The relationship between genotype and phenotype remains elusive. The initial genetic test for exon 1-6 deletions may be MLPA in our region.


Assuntos
Hiperplasia Suprarrenal Congênita , Adolescente , Criança , Pré-Escolar , Feminino , Humanos , Masculino , Hiperplasia Suprarrenal Congênita/genética , Estudos de Coortes , Hipertensão/genética , Hipopotassemia/genética , Puberdade Tardia/genética , Esteroide 17-alfa-Hidroxilase/genética , Turquia/epidemiologia
2.
Clin Endocrinol (Oxf) ; 101(2): 108-113, 2024 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-38796770

RESUMO

BACKGROUND: Newborn screening (NBS) reduces the risk of mortality in congenital adrenal hyperplasia (CAH), mainly due to the salt-wasting form of 21-hydroxylase deficiency. There is limited knowledge regarding the results of NBS in non-CAH primary adrenal insufficiency (non-CAH PAI). PATIENTS AND METHODS: Clinical and NBS for CAH data of neonates who were diagnosed with non-CAH PAI between January and December 2022 were examined. RESULTS: Patients (n = 6, 4 females) were presented with severe hyperpigmentation (n = 6), hypoglycemia (n = 4), hyponatremia (n = 3), hyperkalemia (n = 1), respiratory distress syndrome (n = 1) between 3rd hour to 2 months of life. All had normal NBS results. The median first-tier 17-hydroxyprogesterone (17OHP) concentration in NBS for CAH was 0.14 ng/mL (range; 0.05-0.85). Molecular studies revealed biallelic mutations in the MC2R (n = 4; 3 homozygous, 1 compound heterozygous), MRAP (n = 1) and STAR (n = 1) genes. Glucocorticoid with or without mineralocorticoid replacement was initiated once the diagnosis of non-CAH PAI was established. CONCLUSION: Neonates with non-CAH PAI have always normal NBS due to persistently low 17OHP, even when these newborn infants are severely symptomatic for adrenal insufficiency. Clinicians should be alert for signs of adrenal insufficiency in neonates, even if the patient has a 'normal' screening for CAH, so as not to delay diagnosis and treatment. This fact should be kept in mind particularly in countries where these conditions are more common than elsewhere.


Assuntos
Hiperplasia Suprarrenal Congênita , Insuficiência Adrenal , Triagem Neonatal , Humanos , Recém-Nascido , Triagem Neonatal/métodos , Feminino , Masculino , Hiperplasia Suprarrenal Congênita/diagnóstico , Hiperplasia Suprarrenal Congênita/genética , Hiperplasia Suprarrenal Congênita/sangue , Insuficiência Adrenal/diagnóstico , Insuficiência Adrenal/sangue , 17-alfa-Hidroxiprogesterona/sangue , Mutação
3.
J Clin Res Pediatr Endocrinol ; 16(3): 288-296, 2024 09 05.
Artigo em Inglês | MEDLINE | ID: mdl-38664994

RESUMO

Objective: Craniopharyngiomas (CPG) have complex treatment challenges due to their proximity to vital structures, surgical and radiotherapeutic complexities, and the tendency for recurrence. The aim of this study was to identify the prevalence of endocrine and metabolic comorbidities observed during initial diagnosis and long-term follow-up in a nationwide cohort of pediatric CPG patients. A further aim was to highlight the difficulties associated with CPG management. Methods: Sixteen centers entered CPG patients into the ÇEDD NET data system. The clinical and laboratory characteristics at presentation, administered treatments, accompanying endocrine, metabolic, and other system involvements, and the patient's follow-up features were evaluated. Results: Of the 152 evaluated patients, 64 (42.1%) were female. At presentation, the mean age was 9.1±3.67, ranging from 1.46 to 16.92, years. The most common complaints at presentation were headache (68.4%), vision problems (42%), short stature (15%), and nausea and vomiting (7%). The surgical procedures were gross total resection (GTR) in 97 (63.8%) and subtotal resection in 55 (36.2%). Radiotherapy (RT) was initiated in 11.8% of the patients. Histopathological examination reported 92% were adamantinamatous type and 8% were papillary type. Postoperatively, hormone abnormalities consisted of thyroid-stimulating hormone (92.1%), adrenocorticotropic hormone (81%), antidiuretic hormone (79%), growth hormone (65.1%), and gonadotropin (43.4%) deficiencies. Recombinant growth hormone treatment (rhGH) was initiated in 27 (17.8%). The study showed hesitancy among physicians regarding rhGH. The median survival without relapse was 2.2 years. Median (range) time of relapse was 1.82 (0.13-10.35) years. Relapse was related to longer followups and reduced GTR rates. The median follow-up time was 3.13 years. Among the last follow-up visits, the prevalence of obesity was 38%, but of these, 46.5% were already obese at diagnosis. However, 20% who were not obese at baseline became obese on follow-up. Permanent visual impairment was observed in 26 (17.1%), neurological deficits in 13 (8.5%) and diabetes mellitus in 5 (3.3%) patients. Conclusion: Recurrence was predominantly due to incomplete resection and the low rate of postoperative RT. Challenges emerged for multidisciplinary regular follow ups. It is suggested that early interventions, such as dietary restrictions and increased exercise to prevent obesity, be implemented.


Assuntos
Craniofaringioma , Neoplasias Hipofisárias , Humanos , Craniofaringioma/terapia , Craniofaringioma/epidemiologia , Feminino , Masculino , Criança , Adolescente , Pré-Escolar , Neoplasias Hipofisárias/terapia , Neoplasias Hipofisárias/epidemiologia , Lactente , Doenças do Sistema Endócrino/epidemiologia , Doenças do Sistema Endócrino/terapia , Doenças do Sistema Endócrino/etiologia , Seguimentos , Resultado do Tratamento
4.
Mol Syndromol ; 15(1): 77-82, 2024 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-38357256

RESUMO

Introduction: Familial glucocorticoid deficiency (FGD) is a rare autosomal recessive disease resulting from isolated glucocorticoid deficiency or unresponsiveness to adrenocorticotropic hormone. Patients with FGD usually present in infancy or early childhood with hyperpigmentation, recurrent infections, and hypoglycemia. The salt-wasting crisis is rare. Case Presentation: A term female neonate was admitted to the neonatal intensive care unit due to respiratory distress. On physical examination, she had generalized hyperpigmentation. Initial laboratory work-up yielded normal serum electrolytes and glucose. Hyponatremia and hyperkalemia emerged on follow-up. The patient was diagnosed as having primary adrenal insufficiency (PAI) with elevated plasma adrenocorticotropin hormone and reduced cortisol levels and hydrocortisone. We started on oral sodium (5 mEq/kg/day) and fludrocortisone (FC) (0.2 mg/day) treatment to the patient. Ultrasonography revealed hypoplastic adrenal glands. Molecular genetic analysis revealed a previously reported homozygous pathogenic variant NM_000529.2: c.560delT (p.V187fs*29) in the MC2R gene. FC dose was tapered to 0.05 mg/day on the third month of life and was stopped at tenth months of age with maintenance of normal serum electrolytes and clinical findings. Conclusion: FGD due to MC2R gene mutation may rarely present with a salt-wasting crisis in the neonatal period. Identifying the causative gene with the pathogenic variant in PAI may serve to individualize a treatment plan.

5.
Liver Int ; 44(3): 811-822, 2024 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-38230874

RESUMO

BACKGROUND AND AIMS: To systematically review the literature for reports on Wolcott-Rallison syndrome, focusing on the spectrum and natural history, genotype-phenotype correlations, patient and native liver survival, and long-term outcomes. METHODS: PubMed, Livio, Google Scholar, Scopus and Web of Science databases were searched. Data on genotype, phenotype, therapy, cause of death and follow-up were extracted. Survival and correlation analyses were performed. RESULTS: Sixty-two studies with 159 patients met the inclusion criteria and additional 30 WRS individuals were collected by personal contact. The median age of presentation was 2.5 months (IQR 2) and of death was 36 months (IQR 50.75). The most frequent clinical feature was neonatal diabetes in all patients, followed by liver impairment in 73%, impaired growth in 72%, skeletal abnormalities in 59.8%, the nervous system in 37.6%, the kidney in 35.4%, insufficient haematopoiesis in 34.4%, hypothyroidism in 14.8% and exocrine pancreas insufficiency in 10.6%. Episodes of acute liver failure were frequently reported. Liver transplantation was performed in six, combined liver-pancreas in one and combined liver-pancreas-kidney transplantation in two individuals. Patient survival was significantly better in the transplant cohort (p = .0057). One-, five- and ten-year patient survival rates were 89.4%, 65.5% and 53.1%, respectively. Liver failure was reported as the leading cause of death in 17.9% of cases. Overall survival was better in individuals with missense mutations (p = .013). CONCLUSION: Wolcott-Rallison syndrome has variable clinical courses. Overall survival is better in individuals with missense mutations. Liver- or multi-organ transplantation is a feasible treatment option to improve survival.


Assuntos
Epífises , Transplante de Fígado , Osteocondrodisplasias , Humanos , Osteocondrodisplasias/genética , Epífises/anormalidades , Epífises/cirurgia , Seguimentos , Lactente , Insuficiência Pancreática Exócrina/genética , Diabetes Mellitus/genética , Pré-Escolar , Falência Hepática Aguda/genética , Falência Hepática Aguda/mortalidade , Falência Hepática Aguda/cirurgia , Hipotireoidismo/genética , Fenótipo , Estudos de Associação Genética , Diabetes Mellitus Tipo 1 , eIF-2 Quinase
6.
Ulus Travma Acil Cerrahi Derg ; 30(1): 9-12, 2024 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-38226575

RESUMO

BACKGROUND: While numerous studies have proposed algorithms for the management of Stapfer Type 2 ERCP perforations, there is limited research on surgical treatment options specifically for this patient group. Our aim is not to propose a new algorithm for these patients but to describe our surgical approach and contribute to the literature with our surgical procedure applied in Stapfer Type 2 ERCP perforation cases. METHODS: Between 2016 and 2023, a total of 12 patients with Stapfer Type 2 ERCP perforations underwent surgery at our hospital. Duodenal diverticulization is a commonly used method in complex duodenal perforation cases. We performed a procedure that involves the removal of the external biliary pathway, hepaticojejunostomy, and a wide Braun anastomosis in addition to the duodenal diverticulization procedure, which we have termed "modified duodenal diverticulization." RESULTS: Eleven out of the 12 patients were discharged successfully without any complications. One patient, who had a late diagnosis, underwent surgery 5 days after ERCP. This patient had ongoing sepsis before the operation, which continued postoperatively and eventually led to multiple organ failure and death. CONCLUSION: There are limited alternatives for the surgical treatment of Type 2 ERCP perforations, and the widely preferred triple ostomy method may not address the underlying pathology necessitating ERCP. The modified duodenal diverticulization method, offering a definitive treatment, can be considered a surgical option for Type 2 ERCP perforations.


Assuntos
Sistema Biliar , Perfuração Intestinal , Humanos , Colangiopancreatografia Retrógrada Endoscópica/efeitos adversos , Estudos Retrospectivos , Duodeno/cirurgia , Anastomose Cirúrgica/efeitos adversos , Perfuração Intestinal/etiologia , Perfuração Intestinal/cirurgia
7.
Trop Anim Health Prod ; 56(1): 18, 2023 Dec 18.
Artigo em Inglês | MEDLINE | ID: mdl-38110568

RESUMO

In pheasants, which are generally raised in large flocks, stocking density is important for their growth and development, normal behavior and welfare. But there is still a lack of information on the optimum stocking density for game birds. This research was conducted on a total of 200 pheasants to examine the effects of low (5 pheasant/m2) and high (10 pheasant/m2) stocking density rearing practices on body weight, morphological development, behavioral characteristics and welfare parameters such as foot-pad dermatitis and plumage quality. When we look at the study results, it was determined that the density of stocking did not make a difference in the first 13 weeks of age, but pheasants reared at low density at the ages of 14-16 weeks reached higher body weight. In terms of body weight at 14, 15, and 16 weeks, the low stocking density group had an average of approximately 41, 71, and 94 g higher than the high stocking density group, respectively (p<0.05). It had been found that low density provides better morphological development. The low group was found to be significantly higher than the high group in terms of ornithological size, wingspan, back length, tail length, head length and head width, 5.9 cm, 2 cm, 1.3 cm, 7.6 cm, 1.7 mm and 1 mm, respectively (p<0.05). Since the animals in the low group had more individual space, they had the opportunity to perch and therefore exhibit more passive behavior. On the other hand, pheasants in the low group exhibited higher levels of aggressive behavior (p<0.05). More foraging behavior was observed in the higher group and the low-density group consumed more feed in the 14th week (p<0.05). But no significant differences were detected between groups in terms of feed consumption in other weeks (p>0.05). A 1.12 point higher score was calculated in the low group compared to the high group, especially in terms of tail feather quality, and as a result, pheasants reared in low stocking density had better plumage quality (p<0.05). It had been determined that as the stocking density decreases in the rearing of pheasants, they exhibit easier flight and roosting behaviors and therefore they were less affected by feather pecking behavior and had better feather quality. In addition, it had been determined that pheasants grow and develop better in this group, which had more rest opportunities. In conclusion, rearing at low stocking density is recommended for better fattening performance and better welfare conditions.


Assuntos
Carne , Codorniz , Animais , Peso Corporal , Agressão , Abrigo para Animais , Galinhas , Criação de Animais Domésticos/métodos
8.
Ulus Travma Acil Cerrahi Derg ; 29(10): 1130-1137, 2023 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-37791433

RESUMO

BACKGROUND: Burns is one of the most common traumas worldwide. Severely injured burn patients have an increased risk for mortality and morbidity. This study aimed to evaluate well-known risk factors for burn mortality and comparison of six machine learn-ing (ML) Algorithms' predictive performances. METHODS: The medical records of patients who had burn injuries treated at Izmir Bozyaka Training and Research Hospital's Burn Treatment Center were examined retrospectively. Patients' demographics such as age and gender, total burned surface area (TBSA), Inhalation injury (II), full-thickness burns (FTBSA), and burn types (BT) were recorded and used as input features in ML models. Pa-tients were analyzed under two groups: Survivors and Non-Survivors. Six ML algorithms, including k-Nearest Neighbor, Decision Tree, Random Forest, Support Vector Machine, Multi-Layer Perceptron, and AdaBoost (AB), were used for predicting mortality. Several different input feature combinations were evaluated for each algorithm. RESULTS: The number of eligible patients was 363. All six parameters (TBSA, Gender, FTBSA, II, Age, BT) that were included in ML algorithms showed a significant difference (p<0.001). The results show that AB algorithm using all input features had the best predic-tion performance with an accuracy of 90% and an area under the curve of 92%. CONCLUSION: ML algorithms showed strong predictive performance in burn mortality. The development of an ML algorithm with the right input features could be useful in the clinical practice. Further investigations are needed on this topic.


Assuntos
Queimaduras , Humanos , Estudos Retrospectivos , Queimaduras/terapia , Algoritmos , Fatores de Risco , Aprendizado de Máquina
9.
Turk J Chem ; 47(1): 232-241, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-37720855

RESUMO

Microfluidic systems have attracted significant interest in recent years as they are extensively employed in lab-on-chip and organ-on-chip research. Their combination with electrochemical platforms offers many advantages, promising a high potential for sensing applications, still the microfluidic-channel integration onto electrodes might induce challenges related to changes in signal-to-noise ratios and mass transport conditions. In this study, we investigated the effect of microfluidic channel integration in redox behavior of thermally deposited gold thin film microelectrodes by voltammetric (CV and SWV) electrochemical measurements. Using different dimensions of PDMS microfluidic channels (i.e. widths of 50, 100, 250, and 500 µm) and a constant electrode dimension (200 µm), we analyzed the relationship between altered electroactive area and electrochemical response against target redox molecules. The increases in electroactive area which were determined by the microfluidic channel sizes were in well-correlation with the obtained CV and SWV redox currents as expected. There was no significant decrease in signal-to-noise ratio in microchannel-integrated electrodes. AFM and SEM characterization demonstrated that thermally deposited thin film electrodes had significantly lower (approximately 25 fold) surface roughness in comparison to commercial screen-printed electrodes. Additionally, we have observed a clear microelectrode-to-macroelectrode transition, from hemispherical to linear (planar) diffusion in other terms, with the increasing channel size.

10.
J Funct Biomater ; 14(6)2023 Jun 20.
Artigo em Inglês | MEDLINE | ID: mdl-37367293

RESUMO

Implantable electrochemical sensors that enable the real-time detection of significant biomarkers offer huge potential for the enhancement and personalisation of therapies; however, biofouling is a key challenge encountered by any implantable system. This is particularly an issue immediately after implantation, when the foreign body response and associated biofouling processes are at their most active in passivating a foreign object. Here, we present the development of a sensor protection and activation strategy against biofouling, based on coatings consisting of a pH-triggered, dissolvable polymer, that covered a functionalised electrode surface. We demonstrate that reproducible delayed sensor activation can be achieved, and that the length of this delay can be controlled by the optimisation of coating thickness, homogeneity and density through tuning of the coating method and temperature. Comparative evaluation of the polymer-coated and uncoated probe-modified electrodes in biological media revealed significant improvements in their anti-biofouling characteristics, demonstrating that this offers a promising approach to the design of enhanced sensing devices.

11.
J Pediatr Endocrinol Metab ; 36(5): 451-457, 2023 May 25.
Artigo em Inglês | MEDLINE | ID: mdl-37017079

RESUMO

OBJECTIVES: Metabolically healthy obesity (MHO) has been reported with varying frequencies in children. The reasons of metabolically healthy phenotype in some obese subjects are unclear. Our aim was to identify the frequency of MHO in obese subjects, to assess the potential associations of demographic characteristics, serum uric acid, alanine transaminase (ALT), pediatric nonalcoholic fatty liver disease fibsosis score probability (PNFS p) with MHO status and to evaluate the differences between MHO and metabolically unhealthy obesity (MUO) with regard to metabolic syndrome surrogates. METHODS: 251 consecutive obese subjects (125 females) aged 7-18 years were included. Subjects were classified as having MHO according to Damanhoury's criteria. Several metabolic variables were measured, PNFS p was calculated by using the formula: z=1.1+(0.34*sqrt(ALT))+ (0.002*ALP)-(1.1*log(platelets)-(0.02*GGT). RESULTS: Median age of the subjects was 12.5 yr (range: 7.0-17.0 yr). The frequency of MHO was 41 %. Subjects with MHO were significantly younger, had lower waist circumference (WC) and waist height ratio (WHtR) and lower HOMA-IR than those without MHO(p<0.05 for all). Frequencies of hyperuricemia, hypertransaminasemia, hepatosteatosis and PNFS p values≥8 were similar betwen the groups. When putatively influential factors associated with MHO status were assessed with logistic regression analysis, only WC(ß=1.03) and HOMA-IR(ß=1.166) emerged as significant factors(Nagelkerke R2=0.142). None of the investigated demographic factors were associated with MHO status. CONCLUSIONS: We found a remarkably high frequency of MHO status. Nevertheless, the absence of decreased frequencies of hyperuricemia, hypertransaminasemia and PNFS in subjects with MHO may suggest the need to reconsider the validity of the criteria defining MHO.


Assuntos
Hiperuricemia , Síndrome Metabólica , Obesidade Metabolicamente Benigna , Obesidade Infantil , Feminino , Criança , Humanos , Síndrome Metabólica/metabolismo , Obesidade Infantil/complicações , Ácido Úrico , Hiperuricemia/complicações , Fenótipo , Fatores de Risco , Índice de Massa Corporal
12.
Int J Pediatr Otorhinolaryngol ; 165: 111454, 2023 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-36696712

RESUMO

OBJECTIVES: The prevalences of pediatric obesity and its associated comorbidities such as metabolic syndrome (metS) are rising. The aim of this study was to evaluate the association of metS status with sensorineural hearing loss in pediatric obese patients. METHODS: A two-center observationalprospective study was designed. In this study, 252 consecutive treatment-naive pediatric obese patients aged 5.8-17.8 yr in a tertiary pediatric Endocrinology outpatient clinic were prospectively enrolled. Following standard clinical and biochemical evaluations, the obese patients were diagnosed as having metabolic syndrome (metS) or not according to Internetional Diabetes Federation Criteria. All the patients were evaluated with tympanometry and pure tone audiometry tests after otomicroscopic examination. Comparative analyses of audiometric evaluations were performed between metS+ and metS- subgroups of the obese patients. RESULTS: The median age of the patients was 12.5 yr (range: 6.0-17.8 yr) and 56.3% of the patients were male. Metabolic syndrome was diagnosed in 82 (32.5%) patients. Age, gender distribution, history of the ventilation tube, and pubertal stage of the metS + patients and metS- counterparts were not statistically different (p > 0.05 for all). Pure tone hearing thresholds at all frequencies (125, 250, 500, 1k, 2k, 4k, 8k) were significantly higher in the metS + group then the metS- group (p˂0.05 for all). The tympanometry results were not statistically different between the two groups (p˃0.05). Abdominal obesity, hypertension, fasting hyperglycemia and dyslipidemia were not associated with increased hearing thresholds in metS + patients (p˃0.05 for all). CONCLUSION: Metabolic syndrome was associated with increased rates of subclinical hearing loss in our cohort. None of the investigated metS components emerged as a positive association with hearing loss in our cohort. Longitudinal follow-up of our cohort may help probe the causality of the association we found.


Assuntos
Surdez , Perda Auditiva Neurossensorial , Perda Auditiva , Síndrome Metabólica , Obesidade Infantil , Humanos , Masculino , Criança , Feminino , Síndrome Metabólica/complicações , Síndrome Metabólica/diagnóstico , Síndrome Metabólica/epidemiologia , Perda Auditiva Neurossensorial/diagnóstico , Perda Auditiva Neurossensorial/epidemiologia , Perda Auditiva Neurossensorial/etiologia , Perda Auditiva/etiologia , Audição , Obesidade Infantil/complicações , Obesidade Infantil/diagnóstico , Obesidade Infantil/epidemiologia , Surdez/complicações
13.
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
14.
Oncogene ; 42(9): 679-692, 2023 02.
Artigo em Inglês | MEDLINE | ID: mdl-36599922

RESUMO

Breast cancer stem cells (BCSC) are presumed to be responsible for treatment resistance, tumor recurrence and metastasis of breast tumors. However, development of BCSC-targeting therapies has been held back by their heterogeneity and the lack of BCSC-selective molecular targets. Here, we demonstrate that RAC1B, the only known alternatively spliced variant of the small GTPase RAC1, is expressed in a subset of BCSCs in vivo and its function is required for the maintenance of BCSCs and their chemoresistance to doxorubicin. In human breast cancer cell line MCF7, RAC1B is required for BCSC plasticity and chemoresistance to doxorubicin in vitro and for tumor-initiating abilities in vivo. Unlike Rac1, Rac1b function is dispensable for normal mammary gland development and mammary epithelial stem cell (MaSC) activity. In contrast, loss of Rac1b function in a mouse model of breast cancer hampers the BCSC activity and increases their chemosensitivity to doxorubicin treatment. Collectively, our data suggest that RAC1B is a clinically relevant molecular target for the development of BCSC-targeting therapies that may improve the effectiveness of doxorubicin-mediated chemotherapy.


Assuntos
Neoplasias da Mama , Neoplasias Mamárias Animais , Animais , Feminino , Humanos , Camundongos , Neoplasias da Mama/patologia , Linhagem Celular Tumoral , Doxorrubicina/uso terapêutico , Resistencia a Medicamentos Antineoplásicos , Neoplasias Mamárias Animais/patologia , Recidiva Local de Neoplasia/patologia , Células-Tronco Neoplásicas/patologia
16.
Turk J Surg ; 38(1): 46-54, 2022 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-35873746

RESUMO

Objectives: This study aimed to compare the pay for performance system applied nationally in Turkey and in other countries around the world and to reveal the effects of the system applied in our country on the general surgery. Material and Methods: Current literature and countries' programs on the implementation of the pay for performance system were recorded. The results of the Turkish Surgical Association's performance and Healthcare Implementation Communique (HIC) commission studies were evaluated in light of the literature. Results: Many countries have implemented performance systems on a limited scale to improve quality, speed up the diagnosis, treatment, and control of certain diseases, and they have generally applied it as a financial promotion by receiving the support of health insurance companies and nongovernmental organizations. It turns out that surgeons in our country feel that they are being wronged because of the injustice in the current system because the property of their works is not appreciated and they cannot get the reward for the work they do. This is also the reason for the reluctance of medical school graduates to choose general surgery. Conclusion: Authorities should pay attention to the opinions of associations and experts in the related field when creating lists of interventional procedures related to surgery. Equal pay should be given to equal work nationally, and surgeons should be encouraged by incentives to perform detailed, qualified surgeries. There is a possibility that the staff positions opened for general surgery, as well as, all surgical branches will remain empty in the near future.

17.
Ulus Travma Acil Cerrahi Derg ; 28(6): 790-795, 2022 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-35652868

RESUMO

BACKGROUND: For prediction of mortality and clinical course, various scoring systems had been developed. We choose four well known burn specific scoring systems and a general scoring system that using in Intensive Care Units. The primary outcome of this study was evaluate the predictive performances of this models and define the optimal one for our patient population. METHODS: Variables analyzed were age, gender, burn type, total burned surface area (TBSA), total partial thickness burn area, total full thickness burn area, inhalation injuries, mechanical ventilation supports, blood products usage, total scores of Abbreviated Burn Severity Index (ABSI), revised Baux, Belgian Outcome in Burn Injury, Fatality by Longevity, Acute Physiology and Chronic Health Eval-uation II (APACHE II) score, Measured Extent of burn and Sex (FLAMES) and APACHE II, and their relations with mortality. RESULTS: In our study, a statistically significant relationship was found with mortality between age, TBSA, full thickness burn percent-age, inhalation injury, burn type, and it was similar to literature. Female gender was found to be a significant risk factor for mortality. CONCLUSION: We compared several burn mortality scoring systems and their predictional mortality rates. ABSI scores of patients for estimated mortality rates were similar to our mortality rate. Consequently, it was thought that ABSI was included all mortality-re-lated parameters.


Assuntos
Queimaduras , Índice de Gravidade de Doença , APACHE , Fatores Etários , Queimaduras/mortalidade , Queimaduras por Inalação , Feminino , Humanos , Unidades de Terapia Intensiva , Estudos Retrospectivos , Fatores de Risco , Fatores Sexuais
18.
J Pediatr Endocrinol Metab ; 35(5): 649-655, 2022 May 25.
Artigo em Inglês | MEDLINE | ID: mdl-35334196

RESUMO

BACKGROUND: Babies born small for gestational age (SGA) are at risk of obesity and metabolic syndrome (MetS). Spexin (SPX) is a novel peptide implicated in food intake and obesity. Spexin levels are lower in obese subjects. This study investigated the potential association of SPX and some obesity related peptides such as leptin and active ghrelin with size at birth and MetS components in prepubertal children born term and either SGA or appropriate for GA (AGA). Secondary aim was to identify whether any of the investigated peptides were associated with MetS components. METHODS: We conducted a cross-sectional study of 37 consecutive (median age: 5.6 y) SGA- and 50 (median age: 5.9 y) AGA-born children. Clinical evaluations were performed using standard methods. Several biochemical variables (SPX, total leptin, and active ghrelin levels) were analyzed. Age-dependent cut-off values were used to define MetS components, including excess adiposity, hypertension, insulin resistance, and dyslipidemia. The associations between the assessed clinical and laboratory variables and MetS components were investigated. RESULTS: Children born SGA had higher frequencies of MetS components than AGA-born peers (p < 0.01). None of the investigated peptides were different between children born SGA and AGA after correcting for body mass index (p > 0.05 for all). Serum SPX levels were lower in children with at least one metS component than those without MetS components (p = 0.018). CONCLUSIONS: Size at birth had no association with serum SPX. Serum SPX levels are decreased in prepubertal children with MetS components.


Assuntos
Síndrome Metabólica , Peso ao Nascer , Pré-Escolar , Estudos Transversais , Feminino , Grelina , Humanos , Recém-Nascido , Recém-Nascido Pequeno para a Idade Gestacional/metabolismo , Insulina , Leptina , Síndrome Metabólica/etiologia , Obesidade , Hormônios Peptídicos
19.
Turk J Surg ; 38(3): 312-313, 2022 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-36846055

RESUMO

One of the factors that impair anastomosis healing in patients undergoing hepaticojejunostomy is tension of the anastomosis. There may be tension, especially in cases with a short mesojejunum. In cases where the jejunum cannot be brought higher, positioning the liver a little lower may be a solution. We placed a Bakri balloon between the liver and diaphragm to position the liver to a lower level. Here we present a successful hepaticojejunostomy case in which we placed a Bakri balloon to decrease the anastomosis tension.

20.
Biosens Bioelectron ; 197: 113728, 2022 Feb 01.
Artigo em Inglês | MEDLINE | ID: mdl-34763151

RESUMO

The development of robust implantable sensors is important in the successful advancement of personalised medicine as they have the potential to provide in situ real-time data regarding the status of health and disease and the effectiveness of treatment. Tissue pH is a key physiological parameter and herein, we report the design, fabrication, functionalisation, encapsulation and protection of a miniaturised, self-contained, electrochemical pH sensor system and characterisation of sensor performance. Notably for the first time in this environment the pH sensor was based on a methylene blue redox reporter which showed remarkable robustness, accuracy and sensitivity. This was achieved by encapsulation of a self-assembled monolayer containing methylene blue entrapped within a Nafion layer. Another powerful feature was the incorporation, within the same implanted device, of a fabricated on-chip Ag/AgCl reference electrode - vital in any electrochemical sensor, but often ignored. When utilised in vivo, the sensor allowed accurate tracking of externally induced pH changes within a naturally occurring ovine lung cancer model, and correlated well with single point laboratory measurements made on extracted arterial blood, whilst enabling in vivo time-dependent measurements. The sensors functioned robustly whilst implanted, and maintained in vitro function once extracted and together, these results demonstrate proof-of-concept of the ability to sense real-time intratumoral tissue pH changes in vivo.


Assuntos
Técnicas Biossensoriais , Azul de Metileno , Animais , Técnicas Eletroquímicas , Concentração de Íons de Hidrogênio , Oxirredução , Ovinos
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