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1.
Tech Coloproctol ; 27(10): 921-928, 2023 10.
Artículo en Inglés | MEDLINE | ID: mdl-37356014

RESUMEN

PURPOSE: Nowadays, surgical treatment of pilonidal sinus disease (PSD) with novel techniques is a topic of interest since conventional methods are associated with longer return to daily life and higher complication and recurrence rates. Recently, use of laser as a minimally invasive approach has become popular in the surgical treatment of PSD. In this study, we analyze the short- and mid-term results after laser treatment and the effect of endoscopic camera use on outcomes. METHODS: A total of 106 patients with PSD who underwent laser treatment between November 2017 and September 2021 were included in this study. All patients were treated with a 1470-nm diode laser. Endoscopic camera was used in 73 patients and results of these were compared with those in whom camera was not used. Follow-up period was determined as a minimum of 1 year. Data were analyzed retrospectively. RESULTS: There were 80 (75%) male and 26 female patients. The median age was 26 (range 13-50) years. On the first postoperative day, 26 (26.5%) patients did not have any pain and 42(42.8%) patients reported low-grade pain. The mean time to return to daily life was 4.5 ± 5.5 (median 2, range 1-30) days. The complication rate was 10.4%. Eighty-six (87.8%) patients completely recovered and the mean complete recovery time was 27.4 ± 15.9 days. The patient satisfaction rate was 99.0%. The recurrence rate was 11.0%. Neither history of previous surgery nor abscess was associated with recurrence. Use of an endoscopic camera had no effect on postoperative pain, complete recovery, complications, patient satisfaction, and recurrence (p < 0.05). CONCLUSION: Laser treatment for PSD is a promising approach with the advantages of less postoperative pain, early return to daily life, high patient satisfaction, and acceptable complication and recurrence rates. Nevertheless, further studies are needed to investigate the role of endoscopic camera use in this procedure since its possible advantages could not be clarified.


Asunto(s)
Seno Pilonidal , Enfermedades de la Piel , Humanos , Masculino , Femenino , Adolescente , Adulto Joven , Adulto , Persona de Mediana Edad , Resultado del Tratamiento , Seno Pilonidal/cirugía , Láseres de Semiconductores/uso terapéutico , Estudios Retrospectivos , Dolor Postoperatorio/etiología , Recurrencia
2.
Acta Chir Orthop Traumatol Cech ; 90(1): 17-21, 2023.
Artículo en Inglés | MEDLINE | ID: mdl-36907578

RESUMEN

PURPOSE OF THE STUDY In treatment algorithm of developmental dysplasia of the hip, posteromedial limited surgery is placed between closed reduction and medial open articular reduction. The aim of the present study was to assess the functional and radiologic results of this method. MATERIAL AND METHODS This retrospective study was performed in 37 Tönnis grade II and III dysplastic hips of 30 patients. The mean age of the patients at operation was 12.4 months. The mean follow-up time was 24.5 months. Posteromedial limited surgery was applied when sufficient stable concentric reduction was not achieved by closed technique. No pre-operative traction was applied. Postoperatively, human position hip spica cast was applied for 3 months. Outcomes were evaluated regarding modified McKay functional results, acetabular index and presences of residual acetabular dysplasia or avascular necrosis. RESULTS Thirty-six hips had satisfactory and one hip had poor functional result. The mean pre-operative acetabular index was 34.5 degrees. It improved to 27.7 and 23.1 degrees at the postoperative 6th month and the last control X-Rays. The change in acetabular index was statistically significant (p<0.05). At the last control, 3 hips had findings of residual acetabular dysplasia and 2 hips had avascular necrosis. CONCLUSIONS Posteromedial limited surgery for developmental dysplasia of the hip is indicated when closed reduction remains insufficient and medial open articular reduction remains unnecessarily invasive. This study, in line with the literature, provides evidences that this method might decrease the incidences of residual acetabular dysplasia and avascular necrosis of the femoral head. Key words: developmental dysplasia of the hip, posteromedial limited surgery, closed reduction, medial open reduction.


Asunto(s)
Displasia del Desarrollo de la Cadera , Luxación Congénita de la Cadera , Luxación de la Cadera , Humanos , Lactante , Resultado del Tratamiento , Estudios Retrospectivos , Luxación Congénita de la Cadera/cirugía , Luxación de la Cadera/cirugía , Necrosis
3.
Niger J Clin Pract ; 26(9): 1303-1308, 2023 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-37794543

RESUMEN

Background: In early-stage lip cancer, spread to cervical lymph nodes is extremely rare. Elective neck treatment options include suprahyoid or supraomohyoid neck dissection, sentinel lymph node biopsy, or close follow-up. Aim: In this study, our aim was to investigate the effect of elective surgery on survival in patients operated for early-stage lip cancer. Methods: Patients who underwent surgical treatment for lower lip squamous cell carcinoma between 2005 and 2020 were retrospectively analyzed. Age, gender, neck dissection status (yes/no), clinical and pathological T stage of the tumor, grade, and perineural invasion were recorded and 3-year and 5-year overall (OS) and disease-free survival (DFS) rates were estimated. Results: Thirty patients were included: 20 patients had pT1 and 10 patients had pT2 tumors. Neck dissection was performed in 13 patients. The 5-year OS rate was 90.9% and 87.8% with and without dissection, respectively. Neck dissection did not appear to affect OS (P = 0.534) in these patients. The 5-year DFS rate was 96.4% in the overall group, while it was 91.7% and 100% in patients who did or did not undergo neck dissection, respectively (P = 0.756). Discussion: Patients with or without neck dissection did not differ significantly in terms of OS and DFS. Watchful waiting with regular ultrasound imaging of the neck in patients with T1 and T2 lip tumors may be an appropriate therapeutic option.


Asunto(s)
Neoplasias de Cabeza y Cuello , Neoplasias de los Labios , Humanos , Disección del Cuello/métodos , Neoplasias de los Labios/cirugía , Neoplasias de los Labios/patología , Estudios Retrospectivos , Estadificación de Neoplasias , Metástasis Linfática , Neoplasias de Cabeza y Cuello/cirugía , Neoplasias de Cabeza y Cuello/patología
4.
Osteoporos Int ; 33(1): 273-282, 2022 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-34402949

RESUMEN

This study was performed to evaluate whether the use of drugs in the treatment of osteoporosis in women is associated with COVID-19 outcomes. The results showed that the risk of hospitalization, intensive care unit admission, and mortality was not altered in individuals taking anti-osteoporosis drugs, suggesting no safety issues during a COVID-19 infection. INTRODUCTION: Whether patients with COVID-19 receiving anti-osteoporosis drugs have lower risk of worse outcomes has not been reported yet. The aim of this study was to evaluate the association of anti-osteoporosis drug use with COVID-19 outcomes in women. METHODS: Data obtained from a nationwide, multicenter, retrospective cohort of patients diagnosed with COVID-19 from March 11th to May 30th, 2020 was retrieved from the Turkish Ministry of Health Database. Women 50 years or older with confirmed COVID-19 who were receiving anti-osteoporosis drugs were compared with a 1:1 propensity score-matched COVID-19 positive women who were not receiving these drugs. The primary outcomes were hospitalization, ICU (intensive care unit) admission, and mortality. RESULTS: A total of 1997 women on anti-osteoporosis drugs and 1997 control patients were analyzed. In the treatment group, 1787 (89.5%) women were receiving bisphosphonates, 197 (9.9%) denosumab, and 17 (0.9%) teriparatide for the last 12 months. Hospitalization and mortality rates were similar between the treatment and control groups. ICU admission rate was lower in the treatment group (23.0% vs 27.0%, p = 0.013). However, multivariate analysis showed that anti-osteoporosis drug use was not an independent associate of any outcome. Hospitalization, ICU admission, and mortality rates were similar among bisphosphonate, denosumab, or teriparatide users. CONCLUSION: Results of this nationwide study showed that preexisting use of anti-osteoporosis drugs in women did not alter the COVID-19-related risk of hospitalization, ICU admission, and mortality. These results do not suggest discontinuation of these drugs during a COVID-19 infection.


Asunto(s)
COVID-19 , Osteoporosis , Preparaciones Farmacéuticas , Estudios de Cohortes , Femenino , Humanos , Osteoporosis/tratamiento farmacológico , Osteoporosis/epidemiología , Estudios Retrospectivos , SARS-CoV-2
5.
Acta Endocrinol (Buchar) ; 17(1): 138-146, 2021.
Artículo en Inglés | MEDLINE | ID: mdl-34539923

RESUMEN

CONTEXT: Studies investigating the association between serum IGF-1, and thyroid nodule, ovarian or thyroid volume in polycystic ovarian syndrome (PCOS) are limited. OBJECTIVE: We aimed to analyze the association between serum IGF-1 level, and ovarian or thyroid volume, or thyroid nodule in PCOS. DESIGN: The study was performed between June 2017 and August 2019 as prospective design. SUBJECTS AND METHODS: Adult females with new-onset PCOS were included. The patients having comorbid illness, or using medication were excluded. Basic tests, thyroid and ovarian sonography were performed. The patients were grouped according to thyroid nodule(absent/present) and ovarian volume (<10mL/≥10mL). We planned to find a positive association between IGF-1, and thyroid nodule, thyroid or ovarian volume in PCOS. RESULTS: Of total 118 patients, 11(9%) had thyroid nodule. The patients with thyroid nodule had a higher ovarian volume (p=0.006). No correlation was found between GH or IGF-1, and thyroid or ovarian volume. IGF-1 was not a predictor for thyroid nodule or higher ovarian volume. Thyroid nodule was a significant predictor for higher ovarian volume. CONCLUSION: Our study is the first to analyze the association between IGF-1 and thyroid nodule in PCOS. We found that thyroid nodule was associated with thyroid and ovarian volume, but IGF-1 was not associated with thyroid nodule, thyroid or ovarian volume.

6.
Acta Endocrinol (Buchar) ; 17(4): 532-536, 2021.
Artículo en Inglés | MEDLINE | ID: mdl-35747858

RESUMEN

COVID-19 is a viral disease that is recognized now as a pandemic by the World Health Organization. It is known that some viral infections may trigger autoimmune diseases. It has been revealed that COVID-19 may also lead to the pathogenesis of some autoimmune diseases, including Type 1 DM (T1DM) and autoimmune thyroid diseases. Here, we aimed to present a young female patient with COVID-19, who we followed up in our clinic, who presented with diabetic ketoacidosis (DKA), and developed Hashimoto's disease during the treatment process. In order to emphasize that COVID-19 may trigger the emergence of T1DM, that it may mask nonspecific DKA symptoms like nausea and vomiting, that it may cause delay in diagnosis of DKA, and also to emphasize the importance of evaluating other autoimmune diseases accompanying COVID-19, we found it appropriate to present this case.

7.
J Intellect Disabil Res ; 63(6): 548-557, 2019 06.
Artículo en Inglés | MEDLINE | ID: mdl-30773728

RESUMEN

BACKGROUND: Rearrangement of the 1q21 region of chromosome 1 manifests as multiple phenotypes, including microcephaly, intellectual disability, dysmorphic facial features, eye abnormalities, cardiac defects, genitourinary anomalies, autism spectrum disorder, psychiatric conditions and seizures. Herein, we describe eight patients with 1q21 deletion and duplication syndromes, and novel deletions and findings. METHODS: Chromosomal microarray analysis was performed to identify the existence of copy number variation. Quantitative polymerase chain reaction was applied using specific primers for the control and 1q21 region of chromosome 1. Mutational analysis was performed in case 5 using direct genomic sequencing for exons 1-6 in RBM8A. RESULTS: Copy number variation analysis identified seven deletions and one duplication of the 1q21 region in the eight patients. In addition, four variations were de novo, and two deletions are reported here for the first time. One of the cases (case 7) presents moderate intellectual disability and dysmorphic facial findings, whereas chromosomal microarray analysis showed that case 7 had an 889-kb deletion in the 1q21 proximal region (GPR89A, PDZK1, CD160, POLR3C and NBPF12). CONCLUSION: Although the deletion in case 5 did not include the thrombocytopenia-absent radius syndrome critical region or the RBM8A gene, he had pectoral muscle hypoplasia, radius and humerus hypoplasia and short curved ribs, which are indicative of a potential thrombocytopenia-absent radius region modifier. The findings in case 7 suggest that the proximal part of the 1q21 microdeletion syndrome region might be very important for the onset of clinical manifestations. Some novel findings were observed in the presented cases, such as radius and humerus hypoplasia and brain stem hypoplasia. The presented findings expand the spectrum of 1q21 aberrations and provide evidence of genotype-phenotype correlations for this region.


Asunto(s)
Anomalías Múltiples , Deleción Cromosómica , Duplicación Cromosómica/genética , Cromosomas Humanos Par 1/genética , Discapacidad Intelectual , Megalencefalia , Anomalías Múltiples/genética , Anomalías Múltiples/patología , Anomalías Múltiples/fisiopatología , Adolescente , Niño , Preescolar , Consanguinidad , Variaciones en el Número de Copia de ADN , Femenino , Humanos , Lactante , Discapacidad Intelectual/etiología , Discapacidad Intelectual/genética , Discapacidad Intelectual/fisiopatología , Masculino , Megalencefalia/complicaciones , Megalencefalia/genética , Megalencefalia/patología , Megalencefalia/fisiopatología , Análisis por Micromatrices , Proteínas de Unión al ARN/genética , Análisis de Secuencia de ADN
8.
Bratisl Lek Listy ; 119(7): 425-428, 2018.
Artículo en Inglés | MEDLINE | ID: mdl-30160131

RESUMEN

OBJECTIVES AND BACKGROUND: Familial Mediterranean Fever (FMF) is characterized by recurrent fever episodes as a result of inflammation of serous membranes. Changes in the number of different mtDNA copy number variations, detected in FMF patients, who developed amyloidosis, might be an important parameter in the understanding of the pathophysiology of the disease. METHODS: Changes in the mtDNA copy number between 50 patients with FMF, who had M694V homozygote mutation and amyloidosis, and 50 healthy controls, who had not any MEFV mutation or FMF clinical finding, were examined. The 22 MEFV mutations were analyzed by Pyromark Q24 system. Quantitative analysis was performed on RT-PCR. The level of mtDNA was calculated using the delta Ct (ΔCt) of average Ct of mtDNA and nDNA (ΔCt = Ct mtDNA-Ct nDNA) in the same well as an exponent of 2 (2ΔCt). RESULTS: A significant decrease in the amount of mtDNA was detected in FMF patients with M694V homozygous mutation carriers, who developed amyloidosis compared to the control group (p < 0.001). CONCLUSION: In this study, mitochondrial dysfunction, which has been identified through changes in the mitochondrial genome in many diseases, was identified by showing that the copy number variations of mtDNA in leukocytes also decreased for FMF disease (Tab. 3, Fig. 1, Ref. 21).


Asunto(s)
Variaciones en el Número de Copia de ADN , ADN Mitocondrial/genética , Fiebre Mediterránea Familiar/genética , Adulto , Amiloidosis/diagnóstico , Amiloidosis/genética , Análisis Mutacional de ADN , Fiebre Mediterránea Familiar/diagnóstico , Femenino , Tamización de Portadores Genéticos , Homocigoto , Humanos , Leucocitos/metabolismo , Masculino , Pirina/genética , Valores de Referencia
9.
Ann Oncol ; 28(12): 2950-2961, 2017 Dec 01.
Artículo en Inglés | MEDLINE | ID: mdl-28945842

RESUMEN

The genomic-plasticity of the immune system creates a broad immune repertoire engaged to tackle cancer cells. Promising clinical activity has been observed with several immune therapy strategies in solid tumors including melanoma, lung, kidney, and bladder cancers, albeit as yet immunotherapy-based treatment approaches in pancreatic ductal adenocarcinoma (PDAC) remain to have proven value. While translational and early clinical studies have demonstrated activation of antitumor immunity, most recent late-phase clinical trials have not confirmed the early promise in PDAC except in MSI-High PDAC patients. These results may in part be explained by multiple factors, including the poorly immunogenic nature of PDAC along with immune privilege, the complex tumor microenvironment, and the genetic plasticity of PDAC cells. These challenges have led to disappointments in the field, nonetheless they have also advanced our understanding that may tailor the future steps for immunotherapy for PDAC. Therefore, there is significant hope that progress is on the horizon.


Asunto(s)
Carcinoma Ductal Pancreático/inmunología , Carcinoma Ductal Pancreático/terapia , Inmunoterapia/métodos , Neoplasias Pancreáticas/inmunología , Neoplasias Pancreáticas/terapia , Animales , Humanos
10.
J Endocrinol Invest ; 39(1): 73-82, 2016 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-26093468

RESUMEN

OBJECTIVE: The objective of this study is to evaluate the demographic characteristics, blood pressure and blood glucose and the other related factors that affect the microalbuminuria levels in the obese patients aged 40 and above who applied to the primary care for medical evaluation. MATERIALS AND METHODS: The population of the research, which was a cross-sectional type, comprised obese patients aged 40 and above who had applied to the community health centers in the center of Malatya. A total of 422 obese patients consisting of 116 males and 306 females were included in the research. The anthropometric measurements of the participants were determined, their blood pressures and their random blood glucoses were evaluated, as well. A microalbuminuria measurement was performed in the urine samples taken from the patients using "Nycocard Reader II" device. FINDINGS: The incidence of microalbuminuria in patients was found as 31.5%, whereas the incidence of macroalbuminuria was 6.6%. The incidence of microalbuminuria in female patients was 32.7%, while it was 28.4% in male patients; on the other hand, the incidence of macroalbuminuria in female patients was found as 6.8%, whereas this percentage was determined as 7.8 in male patients (p > 0.05). The probability of the incidence of microalbuminuria increased 2.8 times more in those with the diastolic blood pressure of 90 mmHg and above when compared to those without it (GA: 1.79-4.56), whereas the incidence increased 3.2 times more in those with the random blood glucose of 200 mg/l and above (GA: 1.32-7.84) (p < 0.001). In our study, among the variables predicting the microalbuminuria in obese patients; the cutoff values of the diastolic and systolic blood pressures, the waist circumference were found as >85 mmHg; >130 mmHg; >141 mg/dl, respectively, in male patients and found as >85 mmHg, >114 cm, and 109 cm, respectively, in female patients. The sensitivity and specificity of the tests indicating the cutoff values showed significance (p < 0.05). There was no statistically significant relevance between the microalbumin levels of the obese patients via the anthropometric criteria, except for their waist circumference (p > 0.05). RESULT: In this study, the blood pressure and blood glucose levels of the patients along with their waist circumference that indicated a central obesity were specified as the determinants of microalbuminuria. While the obese patients are being evaluated in terms of proteinuria, the cutoff values of these variables can be taken into consideration.


Asunto(s)
Albuminuria/epidemiología , Glucemia/fisiología , Presión Sanguínea , Obesidad/epidemiología , Adulto , Anciano , Anciano de 80 o más Años , Albuminuria/sangre , Albuminuria/complicaciones , Albuminuria/fisiopatología , Estudios Transversales , Femenino , Humanos , Masculino , Persona de Mediana Edad , Obesidad/sangre , Obesidad/complicaciones , Obesidad/fisiopatología , Atención Primaria de Salud/estadística & datos numéricos , Factores de Riesgo
11.
Genet Couns ; 27(3): 295-303, 2016.
Artículo en Inglés | MEDLINE | ID: mdl-30204959

RESUMEN

Partial trisomy of chromosome 5 was first described by Lejeune et al. in 1964 on the short arm (12). The vast majority of the partial trisomy 5 cases include 5p duplications; however we reported a small supernumerary marker chromosome. General symptoms include developmental delay, mental retardation, seizures, respiratory difficulties, congenital heart defects, abdominal muscle hypoplasia and dysmorphic features such as macrocephaly, enlarged anterior fontanelle, dolichocephaly, upslanting palpebral fissures, epicanthal folds, hypertelorism, abnormal ears, midface hypoplasia, short nose, broad nasal bridge and microretrognathia. Arachnodactyly and club foot may be seen as cytoskeletal abnormalities and, hypotonia may be determined in neurological exam. Here we reported a case with developmental delay, attention deficit hyperactivity disorder, mild mental retardation and dysmorphic features, caused by a new small supernumerary marker chromosome, generating partial trisomy 5pI 2-q 11.2. To our knowledge, this small supernumerary marker chromosome has not been reported before. Severe type of partial trisomy 5 includes seizures, congenital heart defects, hypotonia and failure to thrive. Previously reported partial trisomy 5 cases, who showed severe phenotype, had usually duplicated 5p13 region. Therefore, patients, who do not have duplicated 5p13, showed mild phenotype. Also, duplication of the long arm of chromosome 5, may contribute to the milder phenotype and the longer survival in partial trisomy 5 patients. Attention deficit hyperactivity disorder, which we described in the present case, may be a result of partial trisomy 5, because it includes ADHD4 gene. This case may help better understanding the karyotype/phenotype correlation related to partial trisomy 5.


Asunto(s)
Trastorno por Déficit de Atención con Hiperactividad/genética , Aberraciones Cromosómicas , Cromosomas Humanos Par 5/genética , Marcadores Genéticos/genética , Trisomía/genética , Trastorno por Déficit de Atención con Hiperactividad/diagnóstico , Niño , Bandeo Cromosómico , Hibridación Genómica Comparativa , Discapacidades del Desarrollo/diagnóstico , Discapacidades del Desarrollo/genética , Humanos , Hibridación Fluorescente in Situ , Cariotipificación , Masculino
12.
Z Rheumatol ; 75(7): 723-8, 2016 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-26555551

RESUMEN

OBJECTIVE: Osteoprotegerin (OPG) is considered an important biomarker in cardiovascular (CV) disease. CV disease is the most common cause of mortality in patients with rheumatoid arthritis (RA), a consequence of accelerated atherosclerosis. The present study aimed to evaluate the relationship of serum OPG levels to arterial stiffness, carotid intima-media thickness (CIMT), and clinical and laboratory indices in RA patients. PATIENTS AND METHODS: Included in the study were 68 RA patients with no history or signs of CV disease and 48 healthy subjects Disease activity was assessed by the 28-joint disease activity score (DAS28) in RA patients. Serum OPG level was measured using enzyme-linked immunosorbent assay (ELISA). Carotid femoral pulse wave velocity (PWV) was measured as an index of arterial stiffness and CIMT was evaluated by carotid ultrasonography. RESULTS: The mean serum OPG level was significantly higher in RA patients than controls (p < 0.001). Mean PWV and CIMT were also significantly increased in RA patients compared to controls (both p < 0.001). In RA patients, serum OPG level was significantly correlated with PWV and CIMT, as well as rheumatoid factor (RF) and anti-cyclic citrullinated peptide (anti-CCP) antibody; but not with DAS28, high-sensitivity C-reactive protein (hsCRP), or erythrocyte sedimentation rate. CONCLUSION: Serum OPG levels were increased and correlated with CIMT and PWV in RA patients. In addition to PWV and CIMT, OPG may be a useful biomarker for CV risk management in RA patients.


Asunto(s)
Artritis Reumatoide/fisiopatología , Enfermedades de las Arterias Carótidas/fisiopatología , Grosor Intima-Media Carotídeo , Osteoprotegerina/sangre , Análisis de la Onda del Pulso , Rigidez Vascular , Artritis Reumatoide/complicaciones , Artritis Reumatoide/diagnóstico , Enfermedades de las Arterias Carótidas/diagnóstico , Enfermedades de las Arterias Carótidas/etiología , Estudios Transversales , Femenino , Humanos , Masculino , Persona de Mediana Edad , Reproducibilidad de los Resultados , Sensibilidad y Especificidad , Estadística como Asunto
13.
Genet Couns ; 26(4): 415-23, 2015.
Artículo en Inglés | MEDLINE | ID: mdl-26852512

RESUMEN

Warburg Micro Syndrome (WARBM, MIM 600118) is a rare, severe autosomal recessive neurodevelopmental disorder characterized by microcephaly, microphthalmia, microcornea, congenital cataract, cortical dysplasia, corpus callosum hypoplasia, intellectual disability, hypotonia and hypogonadism. RABS, small G proteins belonging to the RAS superfamily, are master regulators of vesicle trafficking in the cell. The identification of mutations in the RAB3GAP1 and RAB3GAP2 genes, which together encode the RAB3GTPase-activating protein, a key regulator in calcium-mediated exocytosis of neurotransmitters and hormones, has underpinned abnormal development of the brain, eye and genitalia as cardinal features of this syndrome. More than 100 patients have been reported with WARBM, with mutations in the RABGAP1, RABGAP2, RAB18 and TBC1D20 genes. The objective of the study was to describe the recurrent RAB3GAP1 mutations and compare the clinical features of the patients with WARBM in the Turkish population. Here we report two brothers with Warburg Micro Syndrome 1 from a non-consanguineous Turkish family with clinical features similar to those previously reported in Turkish patients with RAB3GAP1 mutations. We found that the c.748+1G>A splice-site mutation in RAB3GAP1 intron 8 is common and has so far only been detected in patients of Turkish ethnic origin. Although one of our patients has a distal extra crease on the 4th finger and another has nephrolithiasis, there does not appear to be any specific phenotypic findings associated with this mutation.


Asunto(s)
Anomalías Múltiples/diagnóstico , Anomalías Múltiples/genética , Catarata/congénito , Córnea/anomalías , Hipogonadismo/diagnóstico , Hipogonadismo/genética , Discapacidad Intelectual/diagnóstico , Discapacidad Intelectual/genética , Microcefalia/diagnóstico , Microcefalia/genética , Atrofia Óptica/diagnóstico , Atrofia Óptica/genética , Proteínas de Unión al GTP rab3/genética , Encéfalo/patología , Catarata/diagnóstico , Catarata/genética , Humanos , Lactante , Imagen por Resonancia Magnética , Masculino , Mutación , Turquía
14.
Eur Rev Med Pharmacol Sci ; 28(7): 2760-2769, 2024 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-38639515

RESUMEN

OBJECTIVE: Prediabetes accompanied by metabolic syndrome accelerates the process leading to diabetes and causes an increase in complications. The current study aimed to investigate the clinical conditions accompanying prediabetes and the effect of the association of metabolic syndrome on clinical outcomes in prediabetics. SUBJECTS AND METHODS: This cross-sectional study was conducted with 88 prediabetic individuals between November 2022 and January 2023. Prediabetes was diagnosed using the American Diabetes Association (ADA) criteria, and metabolic syndrome was diagnosed using the International Diabetes Federation criteria. Clinical history, physical examination and laboratory tests of the participants were recorded. RESULTS: Metabolic syndrome (MetS) was present in 69 of 88 prediabetic patients included in the study (78.4%). Hypertension (p=0.019), abdominal obesity (p<0.001), low-density lipoprotein (LDL) elevation (p=0.006), and dyslipidemia (p=0.020) were detected more frequently in prediabetic individuals accompanied by MetS. Median values of waist circumference (p=0.020), systolic blood pressure (p=0.021), triglyceride (p<0.001), LDL (p=0.003) and postprandial blood sugar (p=0.049) in prediabetics accompanied by MetS were statistically significant. It was higher than those without MetS. The median Vit-D level of prediabetics without MetS was higher than those with MetS (p=0.049). The median creatinine value of prediabetics without MetS was higher than that of prediabetics with MetS (p=0.049). CONCLUSIONS: Hypertension, dyslipidemia, abdominal obesity, and metabolic obesity increased in the coexistence of prediabetes and MetS. At the same time, the coexistence of prediabetes and MetS was associated with higher systolic blood pressure, postprandial blood sugar, and LDL levels. Prediabetic individuals accompanied by MetS are at greater metabolic risk.


Asunto(s)
Diabetes Mellitus , Dislipidemias , Hipertensión , Síndrome Metabólico , Estado Prediabético , Humanos , Estado Prediabético/diagnóstico , Estado Prediabético/epidemiología , Glucemia , Obesidad Abdominal/complicaciones , Obesidad Abdominal/epidemiología , Estudios Transversales , Obesidad/complicaciones , Hipertensión/epidemiología , Hipertensión/complicaciones , Dislipidemias/complicaciones
15.
Eur Rev Med Pharmacol Sci ; 27(16): 7557-7568, 2023 08.
Artículo en Inglés | MEDLINE | ID: mdl-37667932

RESUMEN

OBJECTIVE: The aim of this study was to investigate the prevalence of microvascular and macrovascular diabetic complications and the associated comorbidities in newly diagnosed pre-diabetic individuals. PATIENTS AND METHODS: This cross-sectional study includes 100 newly diagnosed pre-diabetic individuals. Fasting plasma glucose, HbA1c, and oral glucose tolerance (OGTT) were tested according to the American Diabetes Association's diagnostic criteria for pre-diabetes, besides anthropometric measurements, lipid profiles, and demographic and biochemical parameters. Comorbidities like hypertension, obesity, dyslipidemia etc., were evaluated. All participants were screened for microvascular (retinopathy, nephropathy, neuropathy) and macrovascular [coronary artery disease (CAD) and cerebrovascular event-peripheral artery disease] complications. RESULTS: Microvascular complications were found in 12% of the participants (neuropathy: 4%, nephropathy: 8%) and 19% had macrovascular complications. Of the participants, 21% of the cases presented hypertension, 21% dyslipidemia and 48% obesity. A high probability of developing non-alcoholic fatty liver disease-related fibrosis [estimated using non-alcoholic fatty liver disease fibrosis score (NFS)] was found in 68% of cases. History of dyslipidemia (OR: 5.00, 95% CI: 1.10-22.56; p=0.037) was an independent risk factor for the development of vascular complications. CONCLUSIONS: Diabetic vascular complications were found in approximately one-third of pre-diabetic cases. Dyslipidaemia was found to be an important risk factor for the development of vascular complications in these individuals.


Asunto(s)
Enfermedades Cardiovasculares , Hipertensión , Enfermedad del Hígado Graso no Alcohólico , Estado Prediabético , Humanos , Estado Prediabético/diagnóstico , Estado Prediabético/epidemiología , Estudios Transversales , Enfermedad del Hígado Graso no Alcohólico/diagnóstico , Enfermedad del Hígado Graso no Alcohólico/epidemiología , Hipertensión/epidemiología , Obesidad/epidemiología , Fibrosis
16.
Eur Rev Med Pharmacol Sci ; 27(10): 4471-4480, 2023 05.
Artículo en Inglés | MEDLINE | ID: mdl-37259728

RESUMEN

OBJECTIVE: Cerebrovascular diseases (CVDs) remain an important public health issue due to the increasing number of deaths worldwide. Changes in the synthesis and release of peptides in CVDs may play an important role in elucidating the physiopathology of the disease. Therefore, this study was to investigate the fate of maresin-1 (MaR-1), subfatin (SUB), asprosin (ASP), and alamandine (ALA) levels in patients with cerebral infarction (CI), intracranial hemorrhage (ICH), subarachnoid hemorrhage (SAH) evaluated within the scope of CVDs, and voluntary healthy controls. PATIENTS AND METHODS: The study participants were divided into 4 groups: CI patients, ICH patients, SAH patients, and healthy volunteers. The diagnosis of CVDs was made based on the National Institutes of Health Stroke Scale (NIHSS), Intracerebral Hemorrhage Score (ICHS), Botterel-Hunt-Hess Scale (BHHS), and cranial computed tomography (CT). The levels of MaR-1 (ng/mL), SUB (ng/mL), ASP (ng/mL), and ALA (pg/mL) in the blood samples collected from the participants were studied using the ELISA method. Other parameters included in the study were obtained from the patient records of our hospital. RESULTS: The comparison of MaR-1 [(control 1.38 ± 0.14), SAH (0.98 ± 0.087), CI (0.67 ± 0.04), ICH (0.51 ± 0.03)], SUB [(control (13.2 ± 1.4), SAH (10.1 ± 1.2), CI (7.9 ± 0.8), ICH (5.8 ± 0.5)], and ALA [(control (67.2 ± 7.9), SAH (58.2 ± 4.3), CI (42.1 ± 3.7), and ICH (34.2 ±3.9)] values revealed a significant decrease compared to the control values. The comparison of the ASP values of SAH, CI, and ICH patients and control values (11.6 ± 1.2) showed significantly higher asprosin values in SAH (13.8 ± 1.1), CI (15.4 ± 1.2) and ICH (28.9 ± 2.8) patients. Similarly, systolic blood pressure (SBP), diastolic blood pressure (DBP), and glucose levels of CKD patients were also high. CONCLUSIONS: Decreased MaR-1, SUB, ALA and increased ASP compared to the control values may play a role in the physiopathology of these diseases. MaR-1, SUB, ALA, and ASP differences between SAH, CI and ICH patients may also guide clinicians along with SBP, DBP and glucose values.


Asunto(s)
Isquemia Encefálica , Hemorragia Subaracnoidea , Humanos , Hemorragia Cerebral , Infarto Cerebral , Glucosa , Hemorragias Intracraneales , Hemorragia Subaracnoidea/diagnóstico por imagen
17.
Eur Rev Med Pharmacol Sci ; 27(6): 2350-2357, 2023 03.
Artículo en Inglés | MEDLINE | ID: mdl-37013754

RESUMEN

OBJECTIVE: Several studies have previously shown that some small leucine-rich proteoglycans (SLRPs) are associated with atherosclerotic plaque. We aim to investigate the relationship between circulating lumican levels and the severity of coronary artery disease (CAD). PATIENTS AND METHODS: This study included 255 consecutive patients who underwent coronary angiography for stable angina pectoris. All demographic and clinical data were collected prospectively. The severity of CAD was assessed based on the Gensini score and a value >40 was defined as advanced CAD. RESULTS: Eighty-eight patients were in the advanced CAD group; these are older and the frequency of diabetes mellitus, cerebrovascular accidents, reduced ejection fraction (EF), left atrium diameter was higher. Serum lumican levels were found as higher in advanced CAD group (0.4 ng/ml vs. 0.6 ng/ml, respectively, p<0.001). When the Gensini score increased, a statistically significant increase was observed in lumican levels with a good correlation (r=0.556 and p<0.001). In multivariate analysis, diabetes mellitus, EF and lumican were predictive for advanced CAD. Lumican level predicts CAD seriousness with a sensitivity rate of 64%, specificity rate of 65%. CONCLUSIONS: In this study, we reveal a relationship between serum lumican levels and CAD severity. More research is warranted to determine the mechanism and prognostic values of lumican in the atherosclerosis.


Asunto(s)
Aterosclerosis , Enfermedad de la Arteria Coronaria , Diabetes Mellitus , Humanos , Lumican , Angiografía Coronaria , Aterosclerosis/complicaciones , Índice de Severidad de la Enfermedad , Biomarcadores , Factores de Riesgo
18.
Eur Rev Med Pharmacol Sci ; 27(2): 547-559, 2023 01.
Artículo en Inglés | MEDLINE | ID: mdl-36734714

RESUMEN

OBJECTIVE: Diabetes is an important endocrinological disease that has an increasing incidence in the world and affects all biological tissues including testicles. Therefore, this study aimed to reveal the histological and biochemical effects of vitamin D on irisin, apoptosis, total antioxidant status (TAS), and total oxidant status (TOS) in testicular tissues of rats with experimental diabetes. MATERIALS AND METHODS: 41 male Wistar rats, 8-10 weeks old, weighing between 200-220 g, were included in the study as the following groups: control group (n=7; no treatment), sham group [only sodium citrate buffer (SCB)] [n=7; single dose 0.1 Molar (M) SCB given intraperitoneally (i.p)], vitamin D group (n=7; 50 IU/day given orally), diabetes group [n=10; single dose 50 mg/kg Streptozotocin (STZ) dissolved in 0.1 M SCB and given i.p (tail vein blood glucose level above 250 mg/dl after 72 hours)] and diabetes+vitamin D group [n=10, single dose 50 mg/kg STZ, dissolved in 0.1 M SCB and given i.p (tail vein blood glucose level above 250 mg/dl after 72 hours) and when diabetes occurs, oral vitamin D administration of 50 IU/day)]. At the end of the 8 weeks experiment, blood was drawn from the tail vein of all rats, they were sacrificed and testicular tissues were taken. While the amount of irisin in the blood and testicular tissue supernatants was analyzed with the Enzyme-Linked Immunosorbent Assay (ELISA) method, TAS and TOS measurements were analyzed with the REL method, testicular tissues were analyzed histopathologically, immunohistochemically, and with the TUNEL method. RESULTS: When the diabetes group was compared with the control and sham groups, it was reported that the amounts of blood and tissue supernatant irisin and TAS significantly decreased and the TOS was significantly increased; a statistically significant increase in irisin and TAS of blood and tissue supernatants and a significant decrease in TOS were detected when diabetes+vitamin D and diabetes groups were compared among themselves. Similar results were obtained in the immunohistochemical studies. Tissue expressions of irisin decreased in the diabetes group compared to the control and sham groups, while the application of vitamin D increased the tissue expressions of irisin. Additionally, when the numbers of apoptotic cells were compared, it was reported that apoptotic cells in the diabetes group increased significantly compared to the control and sham groups, and vitamin D administration significantly decreased the number of apoptotic cells. CONCLUSIONS: Taken together, vitamin D administration to diabetic rats decreased the number of apoptotic cells and increased the amount of irisin. Vitamin D had an effective role in maintaining the physiological integrity of rat testicular tissues, so vitamin D may be a potent agent to be used in the treatment of diabetes in the future.


Asunto(s)
Complicaciones de la Diabetes , Diabetes Mellitus Experimental , Ratas , Masculino , Animales , Diabetes Mellitus Experimental/metabolismo , Fibronectinas/metabolismo , Ratas Wistar , Glucemia/metabolismo , Antioxidantes , Complicaciones de la Diabetes/complicaciones , Oxidantes , Vitaminas/farmacología , Suplementos Dietéticos , Vitamina D/farmacología
19.
J Endocrinol Invest ; 35(6): 553-6, 2012 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-21791966

RESUMEN

The aim of the study was to investigate adrenomedullin (ADM) levels and its relation with insulin resistance in women with polycystic ovary syndrome (PCOS). Twenty-nine women with PCOS and 29 age- and body mass index (BMI)- matched control subjects were included in the study. PCOS was defined according to criteria by the Rotterdam European Society of Human Reproduction and Embryology/American Society for Reproductive Medicine (ESHRE/ASRM)-sponsored PCOS consensus workshop group. A full clinical and biochemical examination including basal hormones and metabolic profile was performed. Insulin resistance was calculated by using the homeostasis model assessment of insulin resistance index (HOMA-IR). Plasma ADM levels were measured by high performance liquid chromatographic (HPLC) method. Plasma ADM, fasting insulin levels and HOMA-IR were significantly higher in patients with PCOS than the control group. ADM levels were positively correlated with insulin levels and HOMA-IR index. The best cut-off value of ADM levels to identify the presence of insulin resistance (HOMA-IR≥2.7) was 30.44 ng/ml. Calculated odds ratio of insulin resistance by using logistic regression analysis, as predicted by ADM, was 0.15 (95% confidence interval, 0.037-0.628; p=0.009). In multiple regression analysis, ADM level was an independent predictor of HOMA-IR index. Our finding indicated that ADM levels increased in women with PCOS in accordance with HOMA-IR. ADM could be a significant independent determinant of insulin resistance in women with PCOS.


Asunto(s)
Adrenomedulina/sangre , Biomarcadores/sangre , Resistencia a la Insulina , Síndrome del Ovario Poliquístico/sangre , Adulto , Glucemia/metabolismo , Índice de Masa Corporal , Estudios de Casos y Controles , Femenino , Humanos , Lípidos/sangre , Adulto Joven
20.
Eur Rev Med Pharmacol Sci ; 26(11): 4044-4053, 2022 06.
Artículo en Inglés | MEDLINE | ID: mdl-35731075

RESUMEN

OBJECTIVE: In this study, we sought to investigate the effects of energy drink supplementation and treadmill exercise on the levels of free radicals, antioxidants, Angtpl8, Elabela, and lipid metabolism in rats. MATERIALS AND METHODS: A total of 28 male Wistar albino rats (4 weeks old, 101.96 ± 9.75 g) were included in the study. The rats were randomly divided into four equal groups: control, exercise, supplement, and exercise+supplement groups. At the end of the study, the rats were decapitated, and blood samples were tested for levels of Angptl-8, ghrelin, leptin, irisin, SOD, CAT, TBARS, total oxidant status, and total antioxidant status using enzyme-linked immunosorbent assay. Levels of blood lipids including triglycerides, total cholesterol, HDL-C, and LDL-C were studied using spectrophotometric method in an auto analyzer. RESULTS: Statistical analysis showed statistical significance in TBARS, LDL-C, irisin, Angptl-8, and Elabela levels of the exercise group; SOD and HDL-C levels of the supplement+exercise group; and total cholesterol levels in the supplement group (p < 0.05). Although there were differences between the groups in leptin, ghrelin, and CAT levels, they were not statistically significant (p > 0.05). CONCLUSIONS: As a result, it can be argued that treadmill exercise is important in regulating lipid metabolism and stimulating peptide hormones and receptors. Furthermore, consuming energy drinks without performing exercise or physical activity increases fat stores, and such increases in the critical organs and tissues may pose a threat to the body.


Asunto(s)
Antioxidantes , Bebidas Energéticas , Animales , Antioxidantes/farmacología , LDL-Colesterol , Fibronectinas/metabolismo , Ghrelina , Leptina , Masculino , Hormonas Peptídicas/metabolismo , Condicionamiento Físico Animal , Ratas , Ratas Wistar , Superóxido Dismutasa , Sustancias Reactivas al Ácido Tiobarbitúrico
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