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Background: It is important to monitor the development of infants and children during their growth period. Various anthropometric parameters of children are measured at regular intervals after birth, and their general health and nutrition and physiological needs are assessed based on these measurements. Aims: To construct the current body mass index (BMI) percentiles and compare them with the literature reports and World Health Organisation (WHO) data. Study Design: Cross-sectional study. Methods: This study is a cross-sectional research on 1,345 boys and 1,364 girls of age ranging from 0 to 24 months; their BMIs were measured at the Baskent University Hospital from January 2018-December 2021. The BMI growth curves for either gender were constructed according to the LMS method by using RefCurv 0.4.2. software. The "gamlss" package was employed for the selection of model parameters in fitting the BMI growth curves, and the model performance was evaluated with reference to the generalized Akaike information criterion (GAIC). Results: According to gender, smoothed BMI growth curves were constructed in the 3rd-97th percentiles. The model adequacy of the fitted growth curves was evaluated with the worm plot. The fit of the BMI model to the data was found to be sufficient, with 95% of the BMI values occurring between two elliptic curves. Conclusion: The study shows a slight increase in BMI percentile values obtained by gender compared to WHO standards.
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Programas Informáticos , Humanos , Índice de Masa Corporal , Peso Corporal/fisiología , Estudios Transversales , Valores de ReferenciaRESUMEN
SUMMARY: The aim of this study is to measure the significant parameters on scapula at computed tomography images and to determine the effects of these parameters for sex determination. The second aim is to find the most effective single and combined parameters to use for sex determination using scapula in Turkish population. In this study, morphometric measurements of scapula on the computed tomography images of 60 male and 60 females were evaluated and their impacts on sex determination were examined via stepwise logistic regression analysis. 10 parameters and 6 indexes calculated via using these parameters were measured. Scapular breadth of the right scapulae (86.7%), maximum scapular length of the left scapulae (85%), scapular breadth of all scapulae (80%) were found to be the most effective single parameters. Combination of the scapular breadth and maximum scapular length were 85%, 90%, 86.7% effective in sex determination on the right scapulae, on the left scapulae and on all of the scapulae, respectively. We believe that the results of this study will contribute to sex determination studies using the scapula in Turkish population for anatomist, anthropologist and forensic scientists.
El objetivo de este estudio fue medir los parámetros significativos en la escápula en imágenes de tomografía computarizada y determinar los efectos de estos parámetros para la determinación del sexo. El segundo objetivo fue encontrar los parámetros individuales y combinados más efectivos para determinar el sexo utilizando la escápula en la población turca. Se evaluaron las medidas morfométricas de la escápula en las imágenes de tomografía computarizada de 60 hombres y 60 mujeres y se examinó su impacto en la determinación del sexo mediante un análisis de regresión logística paso a paso. Se midieron 10 parámetros y 6 índices calculados mediante el uso de estos parámetros. El ancho escapular de la escápula derecha (86,7 %), la longitud escapular máxima de la escápula izquierda (85 %), el ancho escapular de todas las escápulas (80 %) resultaron ser los parámetros individuales más efectivos. La combinación del ancho escapular y la longitud máxima escapular fueron 85%, 90%, 86,7% efectivas en la determinación del sexo en la escápula derecha, en la escápula izquierda y en todas las escápulas, respectivamente. Creemos que los resultados de este estudio contribuirán a los estudios de determinación de sexo utilizando la escápula en la población turca para anatomistas, antropólogos y científicos forenses.
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Humanos , Masculino , Femenino , Adolescente , Adulto , Persona de Mediana Edad , Anciano , Anciano de 80 o más Años , Adulto Joven , Escápula/diagnóstico por imagen , Tomografía Computarizada por Rayos X , Determinación del Sexo por el Esqueleto , Escápula/anatomía & histología , TurquíaRESUMEN
BACKGROUND: Natural killer (NK) cells are known to have cytotoxic effects mediated through killer immunoglobulin-like receptors (KIRs) and their cognate ligands. Role of KIRs in myeloma is yet unresolved. PATIENTS AND METHODS: KIR genotypes and ligands of 204 newly diagnosed MM patients are compared with 424 healthy subjects. Statistical analysis included t-test, chi-square and binary logistic regression. RESULTS: KIR ligands were significantly more (C2C2: 27.5% vs 15.1%; OR 2.128; 95% CI, 1.417-3.196; P < .001) or less (C1C2: 40.2% vs 51.9%; OR 0.623; 95% CI, 0.444-0.874; P = .006) frequent among MM. Co-occurrence of genotype AA with C2C2 was also higher in frequency among MM (OR 2.509; 95% CI, 1.171-5.378; P = .015) likewise cAB1 with C1C2 was less frequent (OR 0.553; 95% CI, 0.333-0.919; P = .021). Genotypes AA with C1C1, cAB1 with C1C2 or C1C2 alone were associated with a delay (median age: 61 [48-73]; P = .044; 62 [31-81]; P = .030 or 59 [31-85]; P = .028), but AA with C2C2 with an earlier age of onset (48 [29-77]; P = .042). In multivariate analysis including R-ISS, light chain, KIR genotype/ligands; ligand C1C2 (P = .02) and genotype AA-C1C1 (P = .037) were independently associated with age of onset ≥60. CONCLUSION: C1C2 and C2C2 alone or in combination with KIR genotype (cAB1 and AA, respectively), is observed in less or higher frequency among MM cases and associated with delayed/earlier age of onset, respectively. Genotype AA-C1C1 although in similar frequency between patients and healthy subjects, is also associated with delay. To our knowledge, this is the first study demonstrating an association between KIR and MM onset age, independent from R-ISS or light chain type.
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Mieloma Múltiple , Humanos , Persona de Mediana Edad , Ligandos , Mieloma Múltiple/genética , Antígenos HLA-C/genética , Genotipo , Receptores KIR/genéticaRESUMEN
Systemic immune-inflammation index (SII), which is a good predictive marker for coronary artery disease, can be calculated by using platelet, neutrophil, and lymphocyte counts. The no-reflow occurrence can also be predicted using the SII. The aim of this study is to reveal the uncertainty of SII for diagnosing ST-elevation myocardial infarction (STEMI) patients who were admitted for primary percutaneous coronary intervention (PCI) for the no-reflow phenomenon. A total of 510 consecutive acute (STEMI) patients with primary PCI were reviewed and included retrospectively. For diagnostic tests which are not a gold standard, there is always an overlap between the results of patients with and without a certain disease. In the literature, for quantitative diagnostic tests where the diagnosis is not certain, two approaches have been proposed, named "grey zone" and "uncertain interval". The uncertain area of the SII, which is given the general term "gray zone" in this article, was constructed and its results were compared with the "grey zone" and "uncertain interval" approaches. The lower and upper limits of the gray zone were found to be 611.504-1790.827 and 1186.576-1565.088 for the grey zone and uncertain interval approaches, respectively. A higher number of patients inside the gray zone and higher performance outside the gray zone were found for the grey zone approach. One should be aware of the differences between the two approaches when making a decision. The patients who were in this gray zone should be observed carefully for detection of the no-reflow phenomenon.
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BACKGROUND: Intensive care unit-acquired weakness (ICUAW) defines generalized muscle weakness seen in critically ill patients in the absence of other causative factors. Herein, we aimed to evaluate ICUAW in stroke patients by electrodiagnostic testing, histopathology, and assessment of respiratory complex activities (RCA), to define the frequency of ICUAW in this patient group, and to reach new parameters for early prediction and diagnosis. METHODS: We prospectively recruited twenty-four severe acute stroke patients during a sixteen-month period. In addition to serial nerve conduction studies (NCS), we performed muscle biopsy and RCA analysis on the non-paretic side when ICUAW developed. Patients undergoing orthopedic surgery without metabolic and neuromuscular diseases constituted the control group for RCA. Survival and longitudinal data were analyzed by joint modeling to determine the relationship between electrophysiological parameters and ICUAW diagnosis. RESULTS: Eight patients (33%) developed ICUAW, and six of them within the first two weeks. Extensor digitorum brevis, abductor digiti minimi (ADM), rectus femoris and vastus medialis (VM) compound muscle action potential (CMAP) amplitudes showed a significant decrease in the ICUAW group. VM CMAP amplitude (BIC = 358.1574) and ADM CMAP duration (BIC = 361.1028) were the best-correlated parameters with ICUAW diagnosis. The most informative electrophysiological findings during the entire study were obtained within the first 11 days. Muscle biopsies revealed varying degrees of type 2 fiber atrophy. Complex I (p = 0.003) and IV (p = 0.018) activities decreased in patients with ICUAW compared to controls. CONCLUSION: VM CMAP amplitude and ADM CMAP duration correlate well with ICUAW diagnosis, and may aid in the early diagnosis.
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Unidades de Cuidados Intensivos , Accidente Cerebrovascular , Humanos , Debilidad Muscular/diagnóstico , Debilidad Muscular/etiología , Músculo Esquelético , Accidente Cerebrovascular/complicacionesRESUMEN
Associations between inherited Killer Immunoglobulin-like Receptor (KIR) genotypes and the severity of multiple RNA virus infections have been reported. This prospective study was initiated to investigate if such an association exists for COVID-19. In this cohort study performed at Ankara University, 132 COVID-19 patients (56 asymptomatic, 51 mild-intermediate, and 25 patients with severe disease) were genotyped for KIR and ligands. Ankara University Donor Registry (n:449) KIR data was used for comparison. Clinical parameters (age, gender, comorbidities, blood group antigens, inflammation biomarkers) and KIR genotypes across cohorts of asymptomatic, mild-intermediate, or severe disease were compared to construct a risk prediction model based on multivariate binary logistic regression analysis with backward elimination method. Age, blood group, number of comorbidities, CRP, D-dimer, and telomeric and centromeric KIR genotypes (tAA, tAB1, and cAB1) along with their cognate ligands were found to differ between cohorts. Two prediction models were constructed; both included age, number of comorbidities, and blood group. Inclusion of the KIR genotypes in the second prediction model exp (-3.52 + 1.56 age group - 2.74 blood group (type A vs others) + 1.26 number of comorbidities - 2.46 tAB1 with ligand + 3.17 tAA with ligand) increased the predictive performance with a 92.9% correct classification for asymptomatic and 76% for severe cases (AUC: 0.93; P < 0.0001, 95% CI 0.88, 0.99). This novel risk model, consisting of KIR genotypes with their cognate ligands, and clinical parameters but excluding earlier published inflammation-related biomarkers allow for the prediction of the severity of COVID-19 infection prior to the onset of infection. This study is listed in the National COVID-19 clinical research studies database.
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COVID-19/genética , Predisposición Genética a la Enfermedad/genética , Receptores KIR/genética , Índice de Severidad de la Enfermedad , Adulto , Anciano , Anciano de 80 o más Años , COVID-19/diagnóstico , COVID-19/epidemiología , Femenino , Predisposición Genética a la Enfermedad/epidemiología , Antígenos HLA/genética , Haplotipos , Humanos , Ligandos , Masculino , Persona de Mediana Edad , Modelos Estadísticos , Estudios Prospectivos , Curva ROC , Medición de Riesgo , SARS-CoV-2 , Turquía/epidemiologíaRESUMEN
Peritoneal dialysis (PD) is a frequently used and growing therapy for end-stage renal diseases (ESRD). Survival analysis of PD patients is an ongoing research topic in the field of nephrology. Several biochemical parameters (e.g., serum albumin, creatinine, and blood urea nitrogen) are measured repeatedly in the follow-up period; however, baseline or averaged values are primarily associated with mortality. Although this strategy is not incorrect, it leads to information loss, resulting in erroneous conclusions and biased estimates. This retrospective study used the trajectory of common renal function indexes in PD patients and mainly investigated the association between serum albumin change and mortality. Furthermore, we considered patient-specific variability in serum albumin change and obtained personalized dynamic risk predictions for selected patients at different follow-up thresholds to investigate the effect of serum albumin trajectories on patient-specific mortality. We included 417 patients from the Erciyes University Nephrology Department whose data were retrospectively collected using medical records. A joint modeling approach for longitudinal and survival data was used to investigate the relationship between serum albumin trajectory and mortality of PD patients. Results showed that averaged serum albumin levels were not associated with mortality. However, serum albumin change was significantly and inversely associated with mortality (HR: 2.43, 95% CI: 1.48 to 4.16). Risk of death was positively associated with peritonitis rate, hemodialysis history, and the total number of comorbid and renal diseases with hazard ratios 1.74, 3.21, and 1.41. There was also significant variability between patients. The personalized risk predictions showed that overall survival estimates were not representative for all patients. Using the patient-specific trajectories provided better survival predictions within the follow-up period as more data become available in serum albumin levels. In conclusion, using the trajectory of risk predictors via an appropriate statistical method provided better predictive accuracy and prevented biased findings. We also showed that personalized risk predictions were much informative than overall estimations in the presence of significant patient variability. Furthermore, personalized estimations may play an essential role in monitoring and managing patients during the follow-up period.
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Modelos Biológicos , Diálisis Peritoneal/mortalidad , Medición de Riesgo , Albúmina Sérica/metabolismo , Femenino , Humanos , Masculino , Persona de Mediana Edad , Análisis Multivariante , Modelos de Riesgos Proporcionales , Factores de Riesgo , Análisis de SupervivenciaRESUMEN
Metachromatic leukodystrophy (MLD) is a glycosphingolipid storage disease caused by deficiency of the lysosomal enzyme arylsulfatase A (ASA) or its activator protein saposin B. MLD can affect all age groups in severity varying from a severe fatal form to milder adult onset forms. Diagnosis is usually made by measuring leukocyte ASA activity. However, this test can give false negative or false positive laboratory results due to pseudodeficiency of ASA and saposin B deficiency, respectively. Therefore, we aimed to evaluate patients with suspected MLD in a Turkish population by comprehensive clinical, biochemical, radiological, and genetic analyses for molecular and phenotypic characterization. We analyzed 28 suspected MLD patients and 41 relatives from 24 families. ASA activity was found to be decreased in 21 of 28 patients. Sixteen patients were diagnosed as MLD (11 late infantile, 2 juvenile and 3 adult types), 2 MSD, 2 pseudodeficiency (PD) and the remaining 8 patients were diagnosed as having other leukodystrophies. Enzyme analysis showed that the age of onset of MLD did not correlate with residual ASA activity. Sequence analysis showed 11 mutations in ARSA, of which 4 were novel (p.Trp195GlyfsTer5, p.Gly298Asp, p.Arg301Leu, and p.Gly311Asp), and 2 mutations in SUMF1 causing multiple sulfatase deficiency, and confirmed the diagnosis of MLD in 2 presymptomatic relatives. All individuals with confirmed mutations had low ASA activity and urinary sulfatide excretion. Intra- and inter-familial variability was high for the same ARSA missense genotypes, indicating the contribution of other factors to disease expression. Imaging findings were evaluated through a modified brain MRI scoring system which indicated patients with protein-truncating mutations had more severe MRI findings and late-infantile disease onset. MRI findings were not specific for the diagnosis. Anti-sulfatide IgM was similar to control subjects, and IgG, elevated in multiple sulfatase deficiency. In conclusion, the knowledge on the biochemical, clinical and genetic basis of MLD was expanded, a modified diagnostic laboratory algorithm for MLD based on integrated evaluation of ASA activity, urinary sulfatide excretion and genetic tests was devised.
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Cystic echinococcosis (CE) is one of the most common zoonotic diseases worldwide, particularly in rural areas. This study aimed at the identification of the genotype/species belonging to Echinococcus granulosus sensu lato (s.l.) specimens in retrieved percutaneously from the human host and to investigate their relationship with cyst characteristics. The genetic identification of cyst material was performed by mt-CO1 gene polymerase chain reaction, and confirmed via sequencing. A total of 110 CE cysts were identified as E. granulosus s.l. In detail, 104 belonged to E. granulosus sensu stricto (G1 and G3) and six isolates were in the E. canadensis cluster (G6/7). All clusters were tested for the relationship between demographics, cyst features and genetic diversity. The relationship between genetic variation and certain clinical characteristics such as cyst volume and location were statistically significant for G6/7 cluster. Further studies are required with a larger sample set to investigate the relationship between the genetic variability of E. granulosus s.l. and cyst features.
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Equinococosis/patología , Echinococcus granulosus/genética , Variación Genética , Adulto , Animales , Equinococosis/parasitología , Femenino , Humanos , Masculino , TurquíaRESUMEN
PURPOSE: To evaluate and compare the results of puncture, aspiration, injection and re-aspiration (PAIR) and catheterization techniques for treatment of CE1 and CE3a liver hydatid cysts according to World Health Organization classification. MATERIALS AND METHODS: Forty patients (29 females) with 56 liver CE1and CE3a cysts were prospectively randomized and enrolled into 2 groups by sealed envelope method. Procedures were performed under general anesthesia. Several parameters including technical success (completing procedure steps), clinical success (lack of recurrence on follow-up), major and minor complications, long-term changes of cyst cavities and length of hospital stay were compared between two groups. RESULTS: As in 2 patients with 3 cysts, PAIR technique had to be changed to catheterization technique due to technical reasons. The technical success rates were 91.9% and 100% for PAIR and catheterization groups, respectively. Volume decrease rates were 78.5% and 86.8% in PAIR and catheterization groups, with a mean follow-up of 78.1 and 71 months, respectively. There was no mortality, anaphylactic shock or intraabdominal dissemination. The rate of major complications such as abscess, cysto-biliary fistula and recurrence was 2.94% and 36.84% in PAIR and catheterization groups, respectively (p = 0.002). Median length of hospital stay was shorter in PAIR group (1 vs 4 days) (p = 0.015). CONCLUSION: PAIR technique should be preferred to catheterization technique for treatment of liver CE1 and CE3a cysts due to lower rates of major complications and length of hospital stay. Catheterization technique should be employed when cysto-biliary fistula was evident.
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Cateterismo/métodos , Equinococosis Hepática/terapia , Adulto , Femenino , Humanos , Inyecciones , Tiempo de Internación/estadística & datos numéricos , Masculino , Estudios Prospectivos , Punciones , Succión , Resultado del TratamientoRESUMEN
BACKGROUND: To determine a cutoff value for the 50-g glucose challenge test (50-g GCT) for the prediction of small-for-gestational-age (SGA) neonates. METHODS: This retrospective cohort study was conducted among pregnant women who were screened with the 50-g GCT at Hacettepe University Hospital between 1 January 2016 and 31 March 2019. Patients with 50-g GCT values <74 mg/dL (<10th percentile) served as the study group (n = 244), while patients with 50-g GCT values between 74 to 139 mg/dL served as the control group (n = 3104). Groups were compared in terms of demographic features, clinical characteristics, and obstetric outcomes. Logistic regression analysis was used to determine independent predictors of SGA. Receiver operating characteristic curves were used to assess the performance of 50-g GCT values in predicting SGA. RESULTS: Lower birthweight, birthweight percentile, and 5th-minute Apgar values, together with higher rates of SGA, were observed in the study group (P < .001 for all). A 50-g GCT value below the 10th percentile (odds ratio: 3.29, 95% CI: 2.31-4.69, P < .001) was a significant independent factor for SGA. A cutoff value of 89.5 mg/dL (84.9% sensitivity, 85.6% specificity) was determined for SGA. CONCLUSIONS: Low 50-g GCT values (<89.5 mg/dL) may be an early indicator for SGA.
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Peso al Nacer/fisiología , Diabetes Gestacional/diagnóstico , Prueba de Tolerancia a la Glucosa/métodos , Glucosa/administración & dosificación , Recién Nacido Pequeño para la Edad Gestacional/fisiología , Adulto , Diabetes Gestacional/fisiopatología , Femenino , Humanos , Recién Nacido , Modelos Logísticos , Edad Materna , Embarazo , Curva ROC , Estudios RetrospectivosRESUMEN
BACKGROUND: Extractable nuclear antigen (ENA) and anti-double stranded DNA (anti-dsDNA) positivity and related diseases like systemic lupus erythematosus, Sjögren syndrome, and other autoimmune diseases are known to be associated with obstetrical complications and poor perinatal outcomes. OBJECTIVE: To demonstrate the importance of ENA, anti-dsDNA, antiphospholipid (APL), and anticardiolipin (ACL) antibody positivity on pregnancy outcomes. METHODS: Ninety one pregnant women with known ENA, anti-dsDNA, APL IgG and IgM, and ACL IgG and IgM antibody positivity were retrospectively compared with 91 randomly selected pregnant woman in terms of obstetrical complications and pregnancy outcomes. Beksac Obstetrics Index-pregnancy (BOIp), calculated as (number of children + (π/10))/gravidity in the current pregnancy, was used to compare the risk level between groups. RESULTS: Significant differences were found in the median maternal age, gravidity, number of previous miscarriages, and BOIp between the groups (p= 0.04, p< 0.001, p< 0.001, and p< 0.001, respectively). Significant differences were also found between the study and control groups in the median gestational age at birth, birth weight, and APGAR1 score (p< 0.001 for all). Similarly, significant differences were found between groups in the rates of intra-uterine growth restriction, oligohydramnios, and gestational hypertension (p< 0.001, p= 0.05, and p= 0.05, respectively). There were 3 (3.3%) stillbirths in the study group and none in the control group (p= 0.123). CONCLUSION: We evaluated the impact of anti-dsDNA, ENA, APL, and ACL antibody positivity, which may cause immunologic inflammation at placenta and thereby affect pregnancy outcomes.
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Anticuerpos Anticardiolipina/inmunología , Anticuerpos Antifosfolípidos/inmunología , Antígenos Nucleares/inmunología , Complicaciones del Embarazo/inmunología , ARN Bicatenario/inmunología , Aborto Espontáneo/inmunología , Adulto , Síndrome Antifosfolípido/inmunología , Enfermedades Autoinmunes/inmunología , Femenino , Retardo del Crecimiento Fetal/inmunología , Edad Gestacional , Humanos , Inmunoglobulinas/inmunología , Inhibidor de Coagulación del Lupus/inmunología , Lupus Eritematoso Sistémico/inmunología , Placenta/inmunología , Embarazo , Resultado del Embarazo , Estudios Retrospectivos , Factores de Riesgo , Mortinato , Adulto JovenRESUMEN
PURPOSE: Vanished twin (VT) has been associated with poor perinatal outcomes. Our research aimed to investigate the outcomes of pregnancies with vanished twin and its possible association with methylenetetrahydrofolate reductase (MTHFR) polymorphisms. METHODS: This study consisted of 30 of 38 VT pregnancies (group 1, VT group), 109 singletons (group 2), 70 spontaneous twins (group 3), and 101 in vitro fertilization (IVF)/intracytoplasmic sperm injection (ICSI) twins (group 4). RESULTS: Most patients in group 1 (28/30) were tested for MTHFR genes (C677T or A1298C polymorphisms). Eight of the 38 pregnancies with VT (21.1%) resulted in miscarriage. The prevalence of "2 or more pregnancy losses" in the "obstetric history" in group 1 was higher (23.3%) than those in the other groups (p = 0.007, χ2 = 17.8). The allelic frequencies of MTHFR 677 and MTHFR 1298 in group 1 were 0.268 and 0.429, respectively (higher than those in healthy population). The median birthweights in groups 1, 2, 3, and 4 were 2940, 3200, 2300, and 2095 g, respectively. The prevalence of respiratory distress syndrome was significantly higher in the IVF/ICSI twin pregnancy group (p < 0.001, χ2 = 21.2). Early pregnancy loss and the presence of "2 or more miscarriages" in the obstetric history of pregnancies with VT were more frequent. CONCLUSION: The coincidence of VT and MTHFR polymorphisms might play an incidental or factual role in this connection.
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Estudios de Asociación Genética , Metilenotetrahidrofolato Reductasa (NADPH2)/genética , Resultado del Embarazo/genética , Embarazo Gemelar/genética , Aborto Espontáneo/genética , Aborto Espontáneo/fisiopatología , Adulto , Femenino , Fertilización In Vitro , Frecuencia de los Genes/genética , Humanos , Polimorfismo de Nucleótido Simple/genética , Embarazo , Complicaciones del Embarazo/genética , Complicaciones del Embarazo/fisiopatología , Resultado del Embarazo/epidemiología , Embarazo Gemelar/fisiología , Inyecciones de Esperma Intracitoplasmáticas , Gemelos/genéticaRESUMEN
Introduction Aim of the study was to evaluate the effect of methylenetetrahydrofolate reductase (MTHFR) polymorphisms on pregnancy outcome. Materials and Methods A total of 617 pregnancies of women who were investigated for MTHFR C677T and A1298C polymorphisms prior to pregnancy were included in the study. Cases were classified into "homozygous polymorphisms" (Group I), "heterozygous polymorphisms" (Group II), and patients without polymorphisms who functioned as controls (Group III). Patients with polymorphisms were assigned to a specific protocol at least 3 months before becoming pregnant. Administration of low molecular weight heparin (LMWH) was started very early during pregnancy. The Beksac Obstetrics Index (BOI) was used to estimate the obstetric risk levels for the different groups. Results We found that the early pregnancy loss (EPL) rate increased as MTHFR polymorphism complexity increased and that the early EPL rate was significantly higher in patients with MTHFR C677T polymorphism compared to patients with MTHFR A1298C polymorphism (p = 0.039). There were significant differences between the previous pregnancies of the patients in the 3 study groups in terms of perinatal complications and EPLs (p = 0.003 and p = 0.019). The BOI decreased as the severity of polymorphisms increased. An association between MTHFR polymorphisms and congenital malformations and chromosomal abnormalities was observed. We could not demonstrate any statistically significant difference between study groups when the 3 groups were compared with regard to the pregnancy outcomes under specific management protocols. Conclusion MTHFR polymorphisms are potential risk factors for adverse pregnancy outcomes.
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BACKGROUND: Proximal foundation failure is a common complication of growing rod (GR) treatment for early-onset scoliosis. Spinal canal encroachment due to pull-out of pedicle screw used as proximal foundation has been anecdotally reported in GR patients. The aim of this study is to report the prevalence of spinal canal encroachment of pedicle screws in GR treatment and determine risk factors using a single-center cohort. METHODS: Inclusion criteria were: (1) GR for early-onset scoliosis and (2) pull-out of at least 1 proximal anchor pedicle screw. Patients were divided into 2 groups according to the presence of medial screw migration. Medial migration of the screw was confirmed by computed tomography. The extracted data included demographic, clinical, and radiographic information. RESULTS: A total of 21 patients (of 96) met inclusion criteria (21.8%). None of the screws appeared malpositioned on early postoperative x-ray. Average follow-up until screw failure was 50.4 months (64 to 85 mo) and average number of lengthenings 8.1 (4 to 13). Computed tomography revealed canal encroachment in 11 patients (group 1), and no encroachment in 10 (group 2). There was no significant difference between groups for age, follow-up or number of lengthenings. At the time of screw pull-out, coronal plane deformity was increased compared with early postoperative x-ray in all; however, this increase was significantly higher in group 1 (45.7 vs. 35 degrees, P=0.002). Proximal junctional angle (PJA) was increased in both groups at the time of pull-out. While not statistically significant, PJA increased linearly in group 1 but spiked in group 2 at the time of pull-out. There was no neurological event preoperatively, intraoperatively or postoperatively. Failed screws were safely revised in either planned/unplanned surgeries. CONCLUSIONS: In patients with proximal anchor failure of GR, especially if there is increase of coronal deformity and/or PJA, possible spinal encroachment should be kept in mind. LEVEL OF EVIDENCE: Level IV-retrospective case series.
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Tornillos Pediculares/efectos adversos , Escoliosis/cirugía , Fusión Vertebral/métodos , Niño , Preescolar , Femenino , Migración de Cuerpo Extraño/etiología , Humanos , Masculino , Radiografía , Estudios Retrospectivos , Escoliosis/diagnóstico por imagen , Canal Medular/diagnóstico por imagen , Canal Medular/lesiones , Fusión Vertebral/efectos adversos , Vértebras Torácicas/diagnóstico por imagen , Vértebras Torácicas/cirugía , Tomografía Computarizada por Rayos XRESUMEN
Cystic echinococcosis caused by the larval stages of Echinococcus granulosus sensu lato s.l is endemic in Turkey with a high public health impact particularly in rural areas. The aim of this study was to investigate the genetic variation and population structure of E. granulosus s.s using metacestode isolates removed from surgically confirmed patients originating from several regions in Turkey and to investigate the occurrence of autochthonous transmission. Using DNA extracted from a total of 46 human-derived CE isolates, we successfully analysed an 827-bp fragment within the cox1 mitochondrial gene and confirmed the causative agent of human cystic echinococcosis in patients included in this study to be Echinococcus granulosus s.s (G1 and G3 genotypes). The haplotype parsimony network consisted of 28 haplotypes arranged within three main clusters and the neutrality indices were both negative and significant indicating negative selection or population expansion. The assessment carried out in this study using GenBank nucleotide sequence data from Turkey for sheep and cattle hosts demonstrated the importance of autochthonous transmission with sheep, cattle and humans harbouring the same haplotypes. Further studies are required to investigate the biological significance, if any, of E. granulosus s.s haplotypes and the genetic variability of CE from human patients using longer nucleotide sequences and a larger sample set.
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Ciclooxigenasa 1/genética , ADN Protozoario/genética , Equinococosis/epidemiología , Echinococcus granulosus/genética , Polimorfismo Genético/genética , Animales , Bovinos/parasitología , Equinococosis/transmisión , Equinococosis/veterinaria , Echinococcus granulosus/clasificación , Echinococcus granulosus/aislamiento & purificación , Femenino , Genes Mitocondriales/genética , Genotipo , Haplotipos/genética , Humanos , Masculino , Análisis de Secuencia de ADN , Ovinos/parasitología , Turquía/epidemiologíaRESUMEN
STUDY DESIGN: Retrospective analysis. OBJECTIVE: The aim of this study is to compare the safety and efficacy of the apical pedicle subtraction osteotomy (PSO) technique with multiple posterior column osteotomies (PCOs) in nonambulatory patients with severe, rigid neuromuscular scoliosis. SUMMARY OF BACKGROUND DATA: Neuromuscular scoliosis frequently causes intolerance to sitting due to pelvic obliquity, trunk decompensation, and associated back and rib impingement pain which diminish the patient's functional capacity. In the case of rigid curves, spinal osteotomy techniques are occasionally required for effective correction. METHODS: We retrospectively reviewed our patients with severe and rigid neuromuscular scoliosis with associated pelvic obliquity who were treated with posterior instrumented fusion extending to pelvis with more than 1-year postoperative follow-up. We compared radiological and clinical results of PSO and multiple PCO techniques in severe rigid neuromuscular scoliosis with pelvic obliquity of more than 15° in traction radiograph under general anesthesia. Hospital records were also reviewed for operative time, intraoperative blood loss, amount of blood transfusion, duration of hospital stay, and complications. RESULTS: There were 12 patients in the PSO group and 10 patients in the PCO group. There was no significant difference between groups in terms of major curve magnitude, sagittal parameters or pelvic obliquity. Although not statistically significant, PSO technique did trend toward better scoliosis correction (post-op Cobb angle 56.1° vs. 66.7° [Pâ=â0.415]). PSO technique provided a significantly better correction in pelvic obliquity (59% vs. 84%) (Pâ=â0.001). There was no significant difference in average intraoperative blood loss, transfusion, and operative times including anesthesia time, hospital stay, or complications. CONCLUSION: PSO may be an option in correction of severe and rigid neuromuscular scoliosis. It provides better correction of pelvic obliquity without increasing operative time, need for transfusion, or duration of hospitalization as compared to multiple apical PCO technique. Traction radiograph under general anesthesia is a valuable tool in surgical decision making. LEVEL OF EVIDENCE: 4.
Asunto(s)
Vértebras Lumbares/cirugía , Osteotomía/métodos , Escoliosis/cirugía , Vértebras Torácicas/cirugía , Adolescente , Adulto , Niño , Femenino , Humanos , Laminectomía/métodos , Vértebras Lumbares/diagnóstico por imagen , Masculino , Estudios Retrospectivos , Escoliosis/diagnóstico por imagen , Fusión Vertebral/métodos , Vértebras Torácicas/diagnóstico por imagen , Tomografía Computarizada por Rayos X , Resultado del Tratamiento , Adulto JovenRESUMEN
INTRODUCTION: Urinary Incontinence (UI) in pregnancy is more than a disease; it is a social problem that necessitates special care and management. The exact rationales and biological facts behind urinary incontinence during pregnancy are unclear and multivariate. AIM: This pilot study was designed to examine the direct effect of gestational factors (e.g., physical and metabolic/hormonal) on the presence of Gestational Urinary Incontinence (GUI), in nulliparous pregnant women. MATERIALS AND METHODS: This was a questionnaire-based study comprising of 61 nulliparous pregnant woman who had not experienced any Urinary Incontinence (UI) before their pregnancies. Patients were examined during their pregnancies within the framework of the antenatal care program continued at the Division of Perinatology, Hacettepe University, Ankara, Turkey, between January 2015 and December 2016. A 'urinary incontinence questionnaire' was used three times during different periods of gestation (11-14, ~24 and ~37 gestational weeks) for each patient. Statistical analysis was performed using the SPSS software version 20.0. The Chi-Square test or Fisher's-exact test was used to compare proportions in groups. RESULTS: The prevalence of total urinary incontinence (stress urinary incontinence, urge urinary incontinence and mixed urinary incontinence) in nulliparous pregnant women was 4.9% (n=3), 9.8% (n=6) and 26.2% (n=16) at 11-14, ~24 and ~37 gestational weeks, respectively. Stress urinary incontinence was found to be 3.3% (n=2), 6.6% (n=4) and 16.4% (n=10) at 11-14, ~24 and ~37 gestational weeks, respectively. Urge urinary incontinence frequency was found to be 1.6% (n=1), 3.3% (n=2), 6.6% (n=4), and mixed urinary incontinence frequency was 0% (n=0), 0% (n=0), 3.3% (n=2) at 11-14, ~24 and ~37 gestational weeks, respectively. Maternal age, birth weight of the neonate and gestational age at birth had no statistically significant effect on GUI. CONCLUSION: Urinary incontinence is an important issue during pregnancy and related symptoms are more common in third trimester.
RESUMEN
OBJECTIVE: To show celiac disease (CD) and its poor pregnancy outcome relationship, and to demonstrate the importance of a gluten-free diet together with low-dose low-molecular-weight heparin (LMWH) and low-dose corticosteroid (LDC) in the management of pregnancies with CD. MATERIAL AND METHODS: This study consisted of 2 groups of patients. Six patients with CD (control group) on a gluten-free diet were monitored during their first pregnancies within the framework of antenatal care program and their pregnancy outcomes were compared with eight poorly-treated pregnant patients with CD (study group) who were referred from other medical institutions. LMWH (enoxaparine 1x2000 Anti-XA IU/0.2 mL/day), and LDC (methylprednisolone 1x4 mg p.o/day) were used in the control group. Their obstetric histories and outcomes of their last pregnancies were compared. The patients' obstetric risk levels were evaluated using the "Beksac Obstetrics Index" (BOI). RESULTS: There were miscarriages in 50% of the study group. There were also 50% and 75% preterm deliveries in the control and study groups, respectively. The BOI of the study group was significantly worse than the control group (1.31 vs. 0.31±0.21, p<0.01). There were no statistically significant differences between age (24±4.7 vs 31.7±6 years, p=0.448), gestational day of birth (259.3±8.5 vs 246.6±24.3), birthweight (2691±698 vs 2262±359 g, p=0.394), and cesarean section rates (p=0.118). CONCLUSION: CD is a risk factor for adverse pregnancy outcome. Miscarriage and preterm labor are critical complications in pregnancies complicated by CD. A gluten-free diet is important in the treatment. LMWH and LDC seem to be helpful in the management of pregnant women with CD.