Scimitar syndrome: different clinical presentations and results

Amaç: Bu çalışmada Scimitar sendromu tanısı konulmuş hastalar değerlendirildi.Ça­lış­ma­pla­nı:­Çalışmaya Ocak 2003 - Aralık 2011 tarihleri arasında kliniğimizde Scimitar sendromu tanısı konulmuş ortalama ağırlıkları 16.7±21.8 kg olan, 12 hasta (8 kız, 4 erkek; ort. yaş 4.0±4.8 yıl; dağılım 1 ay - 16 yıl), alındı. Hastaların klinik bulguları, fizik muayene, telekardiyografi, ekokardiyografi, kalp kateterizasyonu ve cerahi bulguları ve izlem verileri geriye dönük olarak gözden geçirildi.Bul gu lar: On iki hastadan beşi (%42) infantil tip ve yedisi (%58) çocuk/erişkin tip Scimitar sendromu olarak değerlendirildi. İnfantil tipteki hastaların tümünde taşipne ve kalp yetersizliği bulguları varken, çocuk/erişkin tipteki hastaların birinde tekrarlayan alt solunum yolu enfeksiyonu öyküsü vardı. Ek kardiyak defektler hastaların yedisinde atriyal septal defekt, birinde aort koarktasyonu, ikisinde patent duktus arteriyozus ve birinde ventriküler septal defekt ile pulmoner atrezi idi. Bir hastada iki taraflı Scimitar sendromu vardı. İnfantil Scimitar sendromlu hastaların tümü şiddetli pulmoner hipertansiyonlu iken, çocuk/erişkin tipteki hastalardan biri hafif pulmoner hipertansiyonlu idi. Aortopulmoner kollateral arter saptanan dokuz hastadan altısında arter transkateter yolla kapatıldı. On hastaya (%83) cerrahi girişim uygulandı. İnfantil Scimitar sendromlu bir hasta ameliyat sonrası erken dönemde, ameliyat edilmeyen iki taraflı Scimitar sendromlu diğer bir hasta ise takipte akciğer enfeksiyonu nedeniyle kaybedildi.So nuç: Scimitar sendromu farklı klinik tablolarla seyredebilen nadir bir sendromdur. Çocuk/erişkin tip hastalığı olan hastalar sıklıkla asemptomatiktir; ancak tekrarlayan akciğer enfeksiyonları da izlenebilir. Aortopulmoner kollateral oklüzyon semptomatik iyileşme sağlayabilse de özellikle Scimitar veni tıkanmış ve ilave kardiyak anomalisi bulunan hastalarda cerrahi gerekir.Background: This study aims to evaluate patients diagnosed with Scimitar syndrome. Methods: Twelve patients (8 girls, 4 boys; mean age: 4.0±4.8 years; range 1 month to 16 years) with a mean weight of 16.7±21.8 kg who were diagnosed with Scimitar syndrome in our clinic between January 2003 and December 2011 were included. Clinical findings of the patients, physical examination, telecardiography, echocardiography, cardiac catheterization, and surgical findings and follow-up data were retrospectively reviewed. Results: Of 12 patients, five (42%) were considered with infantile type and seven (58%) with child/adult type Scimitar syndrome. All patients of infantile type presented with tachypnea and cardiac failure findings, while one patient with child/adult type had a history of recurrent lower respiratory tract infection. Additional cardiac defects were atrial septal defect in seven, coarctation in one, patent ductus arteriosus in two, and ventricular septal defect with pulmonary atresia in one patient. Bilateral Scimitary syndrome was present in one patient. All infantile type patients had severe pulmonary hypertension, while only one of the child/adult type patients had mild pulmonary hypertension. Six of nine patients with aortopulmonary collateral artery underwent transcatheter closure of the artery. Surgery was performed in 10 patients (83%). One patient with infantile type in the early postoperative period and another patient with bilateral Scimitar syndrome who was not operated during follow-up died due to pulmonary infection. Conclusion: Scimitar syndrome is a rare syndrome which may present with different clinical presentations. Patients with child/ adult type disease are often asymptomatic, however, may present with recurrent pulmonary infections. Although aortopulmonary collateral occlusion may provide symptomatic relief, surgery is indicated in patients with obstructed Scimitar vein and additional cardiac anomalies, in particular

Validity And Reliability Of The Turkish Version Of The Questionnaire For The Assessment Of Dysphagia In Multiple Sclerosis

Introduction: The aim of this study was to investigate the validity and reliability of the Turkish version of the Questionnaire for the Assessment of DYsphagia in MUltiple Sclerosis (DYMUS) that has been developed for evaluating dysphagia in patients with multiple sclerosis. Methods: This methodological study was conducted in the neurology clinic and outpatient department of a training hospital between March 15 and September 15, 2015. The study included 117 patients aged 18 years and over who had a definite diagnosis of multiple sclerosis, could communicate in Turkish, and volunteered to be included. Data were collected using a descriptive information form, the DYMUS, and the Eating Assessment Tool (EAT-10). The scale was translated and back translated to determine the language validity, and a specialist was consulted to make sure the content was valid. We used the EAT-10 and Kurtzke's Expanded Disability Status Scale (EDSS) concurrently to test the criterion-related validity. The test-retest procedure was used at 1-week intervals for 37 patients in this study. Descriptive statistics, factor analysis, Kappa analysis, reliability analysis, and correlation analysis were used to analyze the data. Results: Factor analysis revealed that the scale was bifactorial, and this was consistent with its original form. There were positive and statistically significant relationships between the DYMUS and EAT 10 (r=0.90, p<0.001) and the mean EDSS scores (r=0.49, p<0.001). The internal consistency of the total scale was high (Cronbach's alpha coefficient= 0.91). The Cronbach's alpha coefficients pertaining to dysphagia for solids and liquids were determined to be 0.88 and 0.83, respectively. The total scale and subscales demonstrated a high test-retest reliability (r=0.79-0.95, p<0.001). Conclusion: In this study, the Turkish version of the DYMUS was found to be a valid and reliable tool for evaluating dysphagia in patients with multiple sclerosis.Wo

Diagnosis, Treatment and Outcomes of Patients with Aortopulmonary Window

Background: Aortopulmonary window (APW) is a communication between the ascending aorta and the pulmonary artery in the presence of two separate semilunar valves and is the rarest of septal defects. Aims: To present our experience with the diagnosis and outcome of APW cases. Study Design: Retrospective cohort study. Methods: Between June 2003 and October 2011, thirteen patients were diagnosed with APW. Clinical features of patients, findings of echocardiographic and angiographic examination, results of surgical intervention and follow-up were reviewed retrospectively. Results: Eleven children (10 days to 16 years), underwent surgical correction of APW. In a 12-month-old boy, the defect was repaired by the transcatheter approach. In addition to APW repair, closure of VSD was performed in 2 patients. APW were associated with interruption in two patients; one also had a complex pathology. None of the patients died due to complications of surgical or transcatheter procedures. After a median follow-up period of 40 months, the patients were asymptomatic and none of them required additional medication, except for the patient with complex pathology including an interrupted aortic arch, who underwent balloon angioplasty for recoarctation. Conclusion: In any infant with the findings of congestive heart failure and failure to thrive, APW must be kept in mind as a differential diagnosis. In isolated APW cases before 6 months of age, echocardiography is often sufficient for diagnosis. In complex cases, cardiac catheterisation is performed for the comprehensive evaluation of associated defects. After 6 months, cardiac catheterisation could be utilised to perform vasoreactivity testing and, if possible, to close the defect

Antibody Response to inactive SARS-CoV-2 vaccination in a cohort of elderly patients living with obesity

Introduction Obesity and aging negatively affect the immune system and host defense mechanisms, increasing vulnerability to, worsening prognosis of infectious diseases and leading to vaccine failure. Our aim is to investigate the antibody response against Severe Acute Respiratory Syndrome Coronavirus 2 (SARS-CoV-2) spike antigens, and the risk factors affecting antibody levels in elderly people living with obesity (PwO) after inactive SARS-CoV-2 vaccine (CoronaVac) administration. Methods One hundred twenty-three consecutive elderly patients with obesity (age>65 years, Body Mass Index (BMI)>30kg/m2) and 47 adults with obesity (age 18-64 years, BMI>30kg/m2) admitted between August and November 2021 were enrolled. Seventy five non-obese elderly people (age >65 years, BMI 18.5-29.9 kg/m2) and 105 non-obese adults (age 18-64 years, BMI 18.5-29.9 kg/m2) were recruited from subjects who visited Vaccination Unit. SARS-CoV-2 spike-protein antibody titers were measured in patients with obesity and non-obese controls who received two doses of CoronaVac. Results SARS-CoV-2 levels of patients with obesity were found to be significantly lower than those of non-obese elderly individuals who had non-prior infection.There was no difference in SARS-CoV-2 levels between patients with obesity and non-obese individuals with prior infection. Age and SARS-CoV-2 level were found to be highly correlated in the correlation analysis in the group of elderly individuals (r:-0.184). In multivariate regression analysis, when SARS-CoV-2 IgG was regressed on age, sex, BMI, Type 2 Diabetes Mellitus (T2DM) and Hypertension (HT), HT was found to be an independant factor on SARS-CoV-2 level (β:-2730). Conclusion In non-prior infection group, elderly patients with obesity generated significantly reduced antibody titers against SARS-CoV-2 spike antigen after CoronaVac vaccine compared to non-obese people. It is anticipated that the results obtained will provide invaluable information about SARS-CoV-2 vaccination strategies in this vulnerable population. Antibody titers may be measured and booster doses should be delivered accordingly in elderly PwO for optimal protection

Risk factors influencing seroconversion after inactive SARS-CoV-2 vaccination in people living with obesity

Introductio

TransCOVID: Does Gender-Affirming Hormone Therapy Play a Role in Contracting COVID-19?

Based on the possible effects of androgens on the course of COVID-19, it can be posited that Gender-Affirming Hormone Therapy (GAHT) may affect the course of the disease in people with GD. We aimed to investigate the relationship between GAHT and contracting COVID-19, as well as the severity of the disease in individuals with Gender Dysphoria (GD). The single center, cross-sectional, web-based survey was completed by people with GD who received GAHT. The questionnaire contained three parts: a sociodemographic data form; a GAHT data form; a COVID-19-related data form. Of the 238 participants, 179 were individuals with female-to-male (FtM) and 59 male-to-female (MtF) GD. We detected that the risk of contracting COVID-19 increased 3.46 times in people with FtM GD, who had received testosterone therapy, in comparison to people with MtF GD, who received estrogen and anti-androgen therapy. Additionally, people with FtM GD who contracted COVID-19 had received longer testosterone therapy when compared to those who did not contract COVID-19. Our findings indicate that individuals with FtM GD who receive testosterone treatment within the scope of GAHT are at higher risk of contracting COVID-19 and that the clinicians who follow-up on GAHT should be more careful about this issue

Fertility Desire and Motivation Among Individuals with Gender Dysphoria: A Comparative Study

Despite receiving Gender-Affirming Hormone Therapy or Gender-Affirming Surgery, which may adversely impact their fertility, people with Gender Dysphoria (GD) may desire to form families. In this study, we aimed to quantitatively display fertility desire from the perspective of these individuals, despite all the legal challenges they face. The single center, cross-sectional comparative study included individuals with GD and cisgender volunteers. A Sociodemographic Data Form, the Fertility Desire Data Form, the Childbearing Motivations Scale and the Fertility Desire Scale were used. Of the 414 participants, 171 were individuals with GD (110 FtM; 61 MtF) and 243 were cisgender volunteers (142 cis-males; 101 cis-females). While 22% of the people with GD stated that they had regrets about not undergoing fertility preservation, 16% stated that they would like this process if it were legal. People with GD, particularly MtF, want to have children more than cisgenders. Moreover, people with MtF exhibited less negative motivations toward becoming parents, despite having reservations regarding the socioeconomic aspect of parenthood. Our findings indicate that fertility desire in people with GD is not less in comparison to cisgender people. Healthcare professionals should not forget to offer fertility preservation options as part of clinical practice before Gender-Affirming Therapy

Machine learning as a clinical decision support tool for patients with acromegaly

Objective To develop machine learning (ML) models that predict postoperative remission, remission at last visit, and resistance to somatostatin receptor ligands (SRL) in patients with acromegaly and to determine the clinical features associated with the prognosis. Methods We studied outcomes using the area under the receiver operating characteristics (AUROC) values, which were reported as the performance metric. To determine the importance of each feature and easy interpretation, Shapley Additive explanations (SHAP) values, which help explain the outputs of ML models, are used. Results One-hundred fifty-two patients with acromegaly were included in the final analysis. The mean AUROC values resulting from 100 independent replications were 0.728 for postoperative 3 months remission status classification, 0.879 for remission at last visit classification, and 0.753 for SRL resistance status classification. Extreme gradient boosting model demonstrated that preoperative growth hormone (GH) level, age at operation, and preoperative tumor size were the most important predictors for early remission; resistance to SRL and preoperative tumor size represented the most important predictors of remission at last visit, and postoperative 3-month insulin-like growth factor 1 (IGF1) and GH levels (random and nadir) together with the sparsely granulated somatotroph adenoma subtype served as the most important predictors of SRL resistance. Conclusions ML models may serve as valuable tools in the prediction of remission and SRL resistance

Acromegaly is associated with a distinct oral and gut microbiota

Purpose Our aim was to investigate the changes in the composition of oral and gut microbiota in patients with newly diagnosed acromegaly and their relationship with IGF-1 levels. Methods Oral and fecal samples were collected from patients with newly diagnosed acromegaly without comorbidities and from healthy controls. The composition of the microbiota was analyzed. The general characteristics, oral and stool samples of the patients and healthy control subjects were compared. The changes in microbiota composition in both habitats, their correlations and associations with IGF-1 were statistically observed using machine learning models. Results Fifteen patients with newly diagnosed acromegaly without comorbidities and 15 healthy controls were included in the study. There was good agreement between fecal and oral microbiota in patients with acromegaly (p = 0.03). Oral microbiota diversity was significantly increased in patients with acromegaly (p < 0.01). In the fecal microbiota, the Firmicutes/Bacteroidetes ratio was lower in patients with acromegaly than in healthy controls (p = 0.011). Application of the transfer learned model to the pattern of microbiota allowed us to identify the patients with acromegaly with perfect accuracy. Conclusions Patients with acromegaly have their own oral and gut microbiota even if they do not have acromegaly-related complications. Moreover, the excess IGF-1 levels could be correctly predicted based on the pattern of the microbiome

Management of Priapism: Results of a Nationwide Survey and Comparison with International Guidelines

Objective: The aim of this study is to evaluate current urologic practice regarding the management of priapism in Turkey and compare with international guidelines. Methods: Urologists and urology residents were invited to an online survey consisting of 30 multiple-choice questions on priapism-related clinical practices that were considered most important and relevant to practices by using Google Forms. Results: Total number of responses was 340. Respondents reported that they recorded a detailed patient’s medical history and physical examination findings (n = 340, 100%) and laboratory testing, which includes corporal blood gas analysis (n = 323, 95%). Participants announced that they performed Doppler ultrasound for 1/4 cases (n = 106, 31%), but 22% of the participants (n = 75) replied that they performed in >75% of cases. Participants (n = 311, 91%) responded that the first-line treatment of ischemic priapism is decompression of the corpus cavernosum. Moreover, most respondents (n = 320, 94%) stated that sympathomimetic injection drugs should be applied as the second step. About three-quarters of respondents (n = 247, 73%) indicated adrenaline as their drug of choice. Phosphodiesterase type 5 inhibitors seems to be the most preferred drug for stuttering priapism (n = 141, 41%). Participants (n = 284, 84%) replied that corpora-glanular shunts should be preferred as the first. A large number of participants (n = 239, 70%) declared that magnetic resonance imaging can be performed in cases with delayed (>24 hours) priapism to diagnose corporal necrosis. Most of the participants (84%) responded that penile prosthesis should be preferred to shunts in cases with delayed (>48 hours) priapism. Conclusion: It would be appropriate to improve the training offered by professional associations and to give more training time to the management of priapism during residency