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Objective: Venous thromboembolism (VTE), a condition during pregnancy that manifests as deep vein thrombosis and pulmonary embolism, is the third most common cause of death in 0.01–0.2% pregnant women worldwide each year. Because this risk has increased in pregnant women and is treatable, early diagnosis and treatment would save lives. The aim of this study was to evaluate the early pregnancy risk factors for VTE in Turkish pregnant women. Methods:In this prospective study, 480 pregnant women between the ages of 18 and 45 years and who applied to our clinic within their first trimester (4–14 weeks) of pregnancy were enrolled in the study. Because the risk factors of the patients were to be determined, there were no exclusion criteria. The antepartum thromboembolism risk parameters were determined according to Risky Pregnancies Management Guide of Turkish Ministry of Health Guidelines. Results: There were 336 (70%) pregnant women in the low-risk group, 62 (12.9%) in the medium-risk group, and 82 (17.1%) in the high-risk group. The permanent parameters within the groups that determined the risk factors were individually evaluated. Conclusion: Our results indicated that 30% of the study population needed low-molecular-weight heparin (LMWH) prophylaxis, of whom 12.9% were in the medium-risk group, and 17.1% were in the high-risk group. VTE risk occurs from a combination of minor factors, rather than one high-risk factor. In addition, most of these VTE risk factors can be easily corrected and prevented in the pre-gestational phase or first trimester.

Objective The pregnant women with gestational diabetes mellitus (GDM) are under the risk of developing type 2 diabetes mellitus and cardiovascular disease after labor. The postpartum diabetes screening has a key role to establish the diagnosis of type 2 diabetes and to start necessary treatment at an earlier period. For that purpose, we aimed to investigate the rates of postpartum diabetes screening and the factors affecting these rates in the pregnant women with GDM diagnosis at Kayseri City Hospital which is a reference center. Methods This study was conducted retrospectively in a tertiary center by investigating pregnant women between 18 and 45 years old whose pregnancy follow-ups were done between June 2018 and January 2020. A total of 2652 pregnant women were screened for GDM by 75-g oral glucose tolerance test (OGTT) during routine clinical follow-up and GDM was found in 425 (16%) of these pregnant women. Of these 425 pregnant women, 225 who continued their postpartum follow-ups and whose contact information was accessed were included in the study. The patients were separated into two groups according to their preference of undergoing postpartum diabetes screening. The demographic characteristics, follow-up numbers and gestational complications of the groups were compared statistically. Results We found that only 34.6% (78/225) of the patients included in the study underwent postpartum diabetes screening and 147 (65.4%) of them did not prefer to undergo postpartum screening. There was no difference between the groups in terms of maternal demographic characteristics. It was found that the patients underwent more postpartum diabetes screening tests in a statistically significant way in cases of the need for antenatal insulin treatment, antenatal visit number being >10 and the presence of antenatal complication (p

Objective We aimed to investigate the performance of fasting plasma glucose (FPG) level, checked between 24 and 28 weeks of gestation, for the diagnosis of gestational diabetes mellitus (GDM) in order to find out whether FPG level would help to identify potential GDM cases or not in pregnancies which do or do not undergo oral glucose tolerance test (OGTT). Methods This study was performed retrospectively in a tertiary center by accessing the records of 2950 patients who underwent 75-g OGTT in between 24 and 28 weeks of gestation. GDM diagnosis was established according to the one-step screening test results. In the patients diagnosed with GDM, the most successful threshold value for the diagnosis calculated statistically was determined for FPG. The specificity and sensitivity values were calculated for FPG. Results After applying the exclusion criteria, 1736 of 2043 pregnant women were normal and 307 (15%) of them were diagnosed with GDM. The mean age was higher in the pregnant women with GDM than the healthy pregnant women when they were compared according to the demographic characteristics (28.6±4.3 vs. 26.2±4.1, p88 mg/dl in pregnant women who do not want to undergo OGTT, they should be informed in detail about both OGTT and GDM and its potential complications. Thus, the number of GDM cases without diagnosis and its potential complications would decrease.

Facioscapulohumeral dystrophy (FSHD) is the third most common hereditary muscular dystrophy with an autosomal dominant inheritance. The disease is associated with changes in the double homeobox 4 (DUX4) gene located within the D4Z4 sequence. More than 50% of individuals with FSHD usually exhibit symptoms by the age of 20. However, in individuals with severe infantile FSHD, muscle weakness may occur even at birth. In this study, the clinical, demographic and genetic information of patients whose complaints started before age 5 and were diagnosed with FSHD at Koç University Hospital, Muscle Diseases Center, will be presented. In our study, patients' complaints of sleeping with open eyes were excluded as the onset sign. The clinical records of 105 patients with a diagnosis of FSHD was reviewed. Age of onset of 22 patients was before 10 years, 7 of which had started before age of 5. At the last examination, the mean age of the patients was 16.4 + 7.6 years (between 6 and 26 years), and the mean age of onset of symptoms was 3.2 + 1.9 years (between 2 and 5 years). None of the patients had a history of birth difficulty or floppiness. Developmental stages were normal in the first year in 4 patients, while 3 patients had delayed walking and slow movements. The initial complaint in 6 patients was difficulty in speaking and smiling due to the patients' inability to purse their lips well, and in one patient, it was abdominal weakness in the form of difficulty getting out of bed. In their last neurological examination, all patients had moderate and/or severe orbicularis oculi and oris weakness, 6 patients had moderate asymmetric limb muscle weakness, winged scapula and humping. One patient although had facial muscle weakness and mild winged scapula, there was no extremity or abdominal muscle weakness at his last examination at age 13. Three patients had moderate tongue and neck weakness in addition to typical FSHD findings. Additionally, 4 patients developed severe scoliosis and hyperlordosis. Five patients were ambulatory, two patients became immobilized at the ages of 19 and 20, one of them was tracheostomized. Hearing loss developed in 3 patients. In the genetic examination of 5 patients, D4Z4 repeats unit number decreased to 2-4 and 2 patients are ongoing. Consistent with the literature, infantile onset patients largely exhibited facial-onset phenotype. 3-20% of all FSHD cases have an infantile onset, similarly in our cohort, this rate was 6.5%. In our study, 2 patients developed loss of ambulation at the ages of 19 and 20. Infantile or severe early-onset subtype is a rare form of FSHD characterized by facial weakness that occurs before the age of 5 and scapulohumeral weakness that develops between the ages of 5-10. In our study, consistent with the literature, infantile onset patients largely exhibited facial-onset phenotype. 3-20% of all FSHD cases have an infantile onset, similarly in our cohort, this rate was 6.5%. An atypical finding was that the tongue and neck muscles were affected early in half of our cohort. [ABSTRACT FROM AUTHOR]

Background: The incidence of colorectal cancer is expected to increase, particularly among patients with significant frailty and comorbidities. A subgroup of these patients may not be suitable for surgery because of the high risk of postoperative morbidity and mortality., Objective: The aim of this study was to characterize the clinical outcomes, management, social status, and survival of patients deemed nonoperable because of comorbidity and/or frailty., Design: This was a retrospective cohort study., Settings: Overall survival was estimated using the Kaplan-Meier method. The Cox proportional-hazards model was used to estimate HRs and 95% CIs for mortality-associated modifiable risk factors., Patients: Patients diagnosed with resectable colorectal cancer but deemed nonoperable because of comorbidity and/or frailty by a multidisciplinary team between January 1, 2020, and April 30, 2024, were included in this study., Main Outcome Measures: The primary outcome was to describe the current population, investigate mortality, and explore mortality-related risk factors in the current population., Results: During the study period, 69 of 1667 patients who had colorectal cancer that was potentially resectable but who were deemed nonoperable were included in the study population. The rate of 90-day and 1-year mortality was 20% and 52%, respectively. Three years after the diagnosis, 12% of the patients were alive. At the time of diagnosis, anemia was found in 73% of female patients and 71% of male patients. In addition, 77% of the patients had hypoalbuminemia. Lower albumin levels were associated with poor survival (HR, 0.92; 95% CI, 0.88-0.98; p = 0.007)., Limitations: The retrospective nature and small sample size inherently limit the generalizability of the study findings., Conclusions: Mortality in the current population was high. However, our findings highlight potential areas for improvement in the management of these patients. See Video Abstract ., Informacin Sobre El Grupo De Pacientes Con Cncer Colorrectal Resecables Quirrgicamente Pero No Operables: ANTECEDENTES:Se espera que la incidencia del cáncer colorrectal aumente, en particular entre los pacientes con fragilidad y comorbilidades significativas. Un subgrupo de estos pacientes puede no ser apto para la cirugía debido al alto riesgo de morbilidad y mortalidad posoperatorias.OBJETIVO:El objetivo de este estudio fue caracterizar los resultados clínicos, el tratamiento, el estado social y la supervivencia de los pacientes considerados no operables debido a la comorbilidad y/o fragilidad.DISEÑO:Este fue un estudio de cohorte retrospectivo.ESTABLECIMIENTOS:La supervivencia general se estimó utilizando el método de Kaplan-Meier. Se utilizó el modelo de riesgos proporcionales de Cox para estimar los cocientes de riesgo y los intervalos de confianza del 95% para los factores de riesgo modificables asociados a la mortalidad.PACIENTES:Se incluyeron en este estudio pacientes diagnosticados con cáncer colorrectal resecable pero considerados no operables debido a la comorbilidad y/o fragilidad por un equipo multidisciplinario entre el 1 de enero de 2020 y el 30 de abril de 2024.PRINCIPALES MEDIDAS DE RESULTADOS:El resultado primario fue describir la población actual, investigar la mortalidad y explorar los factores de riesgo relacionados con la mortalidad en esta población.RESULTADOS:Durante el período del estudio, 69 de 1667 pacientes eran potencialmente resecables pero se los consideró no operables y se los incluyó en la población del estudio. La tasa de mortalidad a los 90 días y al año fue del 20% y del 52%, respectivamente. Tres años después del diagnóstico, el 12% de los pacientes estaban vivos. En el momento del diagnóstico, se encontró anemia en el 73% de las pacientes femeninas y en el 71% de los pacientes masculinos. Además, el 77% de los pacientes tenían hipoalbuminemia. Los niveles más bajos de albúmina se asociaron con una supervivencia deficiente, índice de riesgo de 0,92 (intervalo de confianza del 95%: 0,88-0,98, p = 0,007).LIMITACIONES:La naturaleza retrospectiva y el pequeño tamaño de la muestra limitan inherentemente la generalización de los hallazgos del estudio.CONCLUSIONES:La mortalidad en la población actual fue alta. Sin embargo, nuestros hallazgos resaltan áreas potenciales para mejoras en el manejo de estos pacientes. (Traducción-Dr. Felipe Bellolio )., (Copyright © The ASCRS 2024.)

Introduction : Crossed pulmonary arteries (CPA) is an abnormality in which the ostium of the left pulmonary artery is located rightward and the ostium of the right pulmonary artery is leftward. Case report: We diagnosed a fetus with CPA prenatally. In fetal echocardiography, left pulmonary artery was seen to pass beneath the ductus and directing toward the left side and pulmonary artery bifurcation could not be demonstrated at the same plane. Postnatal echocardiography reconfirmed the presence of CPA. Bilateral choanal atresia, genital hypoplasia, hearing loss with facial and external ear asymmetry and psychomotor delay of the newborn led to clinical diagnosis of CHARGE syndrome and was confirmed by gene analysis. Discussion/Conclusion: CPA may be one of the cardiac anomalies in CHARGE syndrome.

DNA Topoisomerase IIβ (TOP2B) acts on DNA topology during transcription and has a critical role in neural development. Heterozygous pathogenic changes in its encoding gene, TOP2B (MIM *126431), has been linked with three overlapping phenotypes characterized by immunodeficiency, acral and urogenital anomalies: Hoffman, BILU and Ablepharon-macrostomia-like syndrome. We herein report on a mother and two sons with distinct TOP2B-phenotype. Two males reported further delineated genital phenotype of males and all reported patients were reviewed for genotype-phenotype correlation. We believe the patients reported herein along with the previously defined 11 represent a phenotypic spectrum from mild-to-severe immunological, acral and urogenital involvement, for which we propose the acronym "TOP2B-related Immunodeficiency and Congenital Anomalies Spectrum (TICAS)"., (© 2023 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.)

Background: Nance-Horan syndrome (NHS; MIM 302,350) is an extremely rare X-linked dominant disease characterized by ocular and dental anomalies, intellectual disability, and facial dysmorphic features., Case Presentation: We report on five affected males and three carrier females from three unrelated NHS families. In Family 1, index (P1) showing bilateral cataracts, iris heterochromia, microcornea, mild intellectual disability, and dental findings including Hutchinson incisors, supernumerary teeth, bud-shaped molars received clinical diagnosis of NHS and targeted NHS gene sequencing revealed a novel pathogenic variant, c.2416 C > T; p.(Gln806*). In Family 2, index (P2) presenting with global developmental delay, microphthalmia, cataracts, and ventricular septal defect underwent SNP array testing and a novel deletion encompassing 22 genes including the NHS gene was detected. In Family 3, two half-brothers (P3 and P4) and maternal uncle (P5) had congenital cataracts and mild to moderate intellectual deficiency. P3 also had autistic and psychobehavioral features. Dental findings included notched incisors, bud-shaped permanent molars, and supernumerary molars. Duo-WES analysis on half-brothers showed a hemizygous novel deletion, c.1867delC; p.(Gln623ArgfsTer26)., Conclusions: Dental professionals can be the first-line specialists involved in the diagnosis of NHS due to its distinct dental findings. Our findings broaden the spectrum of genetic etiopathogenesis associated with NHS and aim to raise awareness among dental professionals., (© 2023. The Author(s).)

Background and Aims: The health consequences of coronavirus disease 2019 [COVID-19] among patients with ulcerative colitis [UC] and Crohn's disease [CD] remain largely unknown. We aimed to investigate the outcomes and long-term effects of COVID-19 in patients with UC or CD., Methods: We conducted a prospective, population-based study covering all Danish patients with CD or UC and confirmed COVID-19 between January 28, 2020 and April 1, 2021, through medical records and questionnaires., Results: All 319 patients with UC and 197 patients with CD who developed COVID-19 in Denmark were included in this study and compared with the Danish background population with COVID-19 [N = 230 087]. A significantly higher risk of COVID-19-related hospitalization was observed among patients with UC (N = 46 [14.4%], relative risk [RR] = 2.49 [95% confidence interval, CI, 1.91-3.26]) and CD (N = 24 [12.2%], RR = 2.11 [95% CI 1.45-3.07]) as compared with the background population (N = 13 306 [5.8%]). A similar pattern was observed for admission to intensive care (UC: N = 8 [2.51%], RR = 27.88 [95% CI 13.88-56.00]; CD: N = 3 [1.52%], RR = 16.92 [95% CI 5.46-52.46]). After a median of 5.1 months (interquartile range [IQR] 4.5-7.9), 58 [42.3%] and 39 [45.9%] patients with UC and CD, respectively, reported persisting symptoms which were independently associated with discontinuation of immunosuppressive therapies during COVID-19 (odds ratio [OR] = 1.50 [95% CI 1.07-10.22], p = 0.01) and severe COVID-19 (OR = 2.76 [95% CI 1.05-3.90], p = 0.04), but not with age or presence of comorbidities., Conclusion: In this population-based study of 516 patients with IBD and COVID-19, 13.6% needed hospitalization and 2.1% required intensive care. Furthermore, sequelae were frequent, affecting 43.7% of COVID-19-infected patients. These findings might have implications for planning the healthcare of patients in the post-COVID-19 era., (© The Author(s) 2021. Published by Oxford University Press on behalf of European Crohn’s and Colitis Organisation. All rights reserved. For permissions, please email: journals.permissions@oup.com.)