Pediatric Primary Raynaud's Phenomenon: A Comprehensive Cardiovascular Analysis.

Our aim in this study is to evaluate the cardiovascular findings of pediatric patients with primary Raynaud's phenomenon (RP) and to determine if there are any pathological findings. Our study included 42 pediatric patients aged between 7 and 18 who were diagnosed with primary RP and did not have any additional underlying structural vascular disease or secondary rheumatological conditions. The control group consisted of 30 healthy volunteers aged 7-18 years, matched by age and sex, without any additional diseases. We evaluated demographic, clinical, and laboratory findings, echocardiographic and capillaroscopic features, as well as carotid intima-media thickness. Compared to the control group, pediatric patients with primary RP showed increased A wave velocity and E/E' ratio parameters in the left ventricle, indicating diastolic dysfunction of the heart. The isovolumetric relaxation time (IVRT) was prolonged in both the left and right ventricles, and the E/A ratio decreased in the left ventricle. The myocardial performance index (MPI), indicating both systolic and diastolic dysfunction, increased in both ventricles. Additionally, the aortic stiffness index, aortic elastic modulus (Ep), and left carotid intima-media thickness (CIMT) significantly increased, while distensibility decreased in pediatric patients with primary RP compared to the control group. The cardiovascular evaluation of pediatric patients with primary RP revealed that diastolic dysfunction is likely present in both the left and right heart. Additionally, based on the aorta and carotid intima measurements, it is suggested that pediatric patients with primary RP are at risk for developing atherosclerosis.

Distraction suppresses high-fat flavor perception.

Distraction during eating contributes to overeating, and when habitually eating with distraction, this may contribute to the development of obesity. One of the proposed mediating mechanisms is the suppression of intensity perception in odor and taste. The effect of distraction on fat intensity perception in flavor, the multisensory combination of odor, taste, and other sensory aspects, is still unknown. In this study, 32 participants (22 women) performed a flavor perception task while also performing a distracting working memory task. In each trial, participants were instructed to observe and memorize a string of 3 (low cognitive load) or 7 (high cognitive load) consonants. Then they received a small quantity of a high- or low-fat chocolate drink, and after that, they were asked to select the string they tried to memorize from three answer options. Last, they rated the intensity and fattiness of the flavor. As intended, in the working memory task, we observed that with a high cognitive load (relative to a low cognitive load), accuracy decreased and response times increased. Regarding perception of the flavors, we observed that overall, high-fat drinks were rated as more intense and fattier. Cognitive load and fat content interacted, such that for the low-fat drink, intensity and fattiness ratings were similar under both cognitive loads; however, under the high cognitive load (relative to the low cognitive load), intensity and fattiness ratings for the high-fat drink were lower. Our results show that distraction can impact the perception of fat in high-fat drinks. If distraction primarily reduces perception of high-fat foods, this may pose a particular risk of overeating high-calorie foods.

Extraretinal Fibrovascular Proliferation in a Neonate Possibly Associated with an ESAM Gene Variant

A female infant born with a gestational age of 35 weeks and birth weight of 2500 g was referred for ophthalmic examination on the second postnatal day. Bilateral venous dilatation and arterial tortuosity, severe extraretinal fibrovascular proliferation, and peripheral ischemia were detected. Fluorescein angiography showed profoundly delayed arteriovenous transit and peripheral avascularity. Both eyes were treated with diode laser photocoagulation and bevacizumab injection. Cranial magnetic resonance imaging (MRI) revealed hydrocephalus, ventricular dilatation, and cerebral atrophy. Her family history revealed that the patient's brother presented to the ophthalmology outpatient clinic at postnatal 3 months with inoperable total retinal detachment and similar cranial MRI findings. No systemic or ocular findings were detected in the parents. A recent study showed that in 13 cases, including our patients, bi-allelic variants in the ESAM gene lead to a new neurodevelopmental disease whose main clinical features include impaired speech and language development, seizures, varying degrees of spasticity, ventriculomegaly, intracranial hemorrhage, and developmental delay/mental disability. Newborn siblings of children with serious pathological retinal findings should undergo a detailed ophthalmic examination as soon as possible after birth to prevent total retinal detachment, even without a diagnosis of specific inherited retinal vascular diseases. Further investigations performed in collaboration with an international network may reveal more candidate gene variants possibly related to retinopathy of prematurity-like ophthalmological findings such as extraretinal fibrovascular proliferation.

Pulmonary function tests in the follow-up of children with COVID-19.

The SARS-CoV-2 virus has infected more than 235 million people since it was accepted as a pandemic in March 2020. Although a milder disease is seen in the pediatric age group, the extent of lung damage and its long-term effects are still unknown. In this study, persistent respiratory symptoms and pulmonary function tests were investigated in children with COVID-19. Fifty children with a confirmed diagnosis of COVID-19 were included in the study. Patients were evaluated for ongoing respiratory symptoms and pulmonary function tests 3 months after infection. Patients with and without persistent symptoms were compared in terms of demographic, clinical, laboratory, and radiological characteristics and also disease severity. Three months after infection, persistent respiratory symptoms were found to be present in 28% of patients; cough, chest pain and tightness, dyspnea, and exertional dyspnea were the most common symptoms. Three patients had an obstructive deficit, and one had a restrictive deficit. Four patients had impaired diffusing capacity of the lungs for carbon monoxide (DLCO). A significant decrease in FEV1/FVC and an increase in lung clearance index were found in the patients with persistent respiratory symptoms. Persistent respiratory symptoms were present in 50% of patients who had severe disease and 12.5% with non-severe disease. DLCO was also significantly lower in the severe disease group.   Conclusions: Our study suggests that the persistence of respiratory symptoms is not related to the severity of acute COVID-19 in children. The inflammatory process due to COVID-19 may continue regardless of its severity, and consequently, peripheral airways may be affected. What is Known: • As compared with adults, children with COVID-19 exhibit a milder disease course and lower mortality rates. However, due to the lack of follow-up studies on children, the long-term effects of their contracting the disease are unknown. What is New: • Although COVID-19 has been thought to have a milder course in children, respiratory system symptoms persist in approximately 30% of patients 3 months after infection. The persistent respiratory symptoms suggest that the inflammatory process due to COVID-19 may continue in some children, even if the clinical findings at admission are not severe, and that the peripheral airways may be affected accordingly.

Diagnosis, Management, and Challenges in Synchronous Bilateral Wilms Tumor in a Horseshoe Kidney: A Case Report.

Horseshoe kidney (HK) refers to a congenital malformation that results from fusion of both the kidneys at one pole, and is the most common renal fusion defect with an incidence of 1 in 400 to 600 individuals. Synchronous bilateral development of Wilms tumor (WT) in an HK is extremely rare. Here, we present a case of synchronous bilateral WT in an HK in an 18-month-old girl. The patient received 12 weeks of preoperative chemotherapy followed by 2-step surgical resection including nephron-sparing surgery (NSS) in both kidneys and left nephrectomy because of positive surgical margin and adjuvant chemotherapy. The patient is still in remission and asymptomatic 6 months after the completion of treatment. In this report, we discuss the treatment modalities of synchronous bilaterally located WT in HK. We conclude that successful outcomes can be obtained with preoperative chemotherapy and NSS in such cases even in the presence of advanced disease and complex anatomic conditions. In addition, the deepest tumor point can be reached during NSS, but total nephrectomy should be considered regarding the possibility of microscopic residue.

Systemic lupus erythematosus complicated with Castleman disease: a case-based review.

Systemic lupus erythematosus (SLE) is a complex, chronic, multi-systemic autoimmune disease, characterized by miscellaneous clinical findings. Castleman disease (CD) is a rare lymphoproliferative disorder that may present with systemic symptoms. Herein, a SLE case complicated with CD is reported by comparing her clinical findings with previously reported patients. We reviewed the literature regarding cases of "Castleman disease" and "Systemic lupus erythematosus" by searching medical journal databases in MEDLINE, EMBASE, Scopus, and Web of Science. A case of a 16-year-old girl with SLE who had intraabdominal lymphadenopathy detected both by ultrasonography and abdominal magnetic resonance imaging is presented. The excision of the lymph node was performed by pediatric surgeons. Histopathological examination was compatible with CD. Hydroxychloroquine and steroid treatments were started after the operation. She achieved remission in 3 months. In the literature research, we found 10 articles describing 17 patients. To our best of knowledge, the presented case was the third pediatric case in the literature with SLE and coexistent CD. This case report and literature review suggests that CD should be considered while evaluating and following patients with autoimmune diseases.

Schizencephaly accompanied by occipital encephalocele and deletion of chromosome 22q13.32: a case report.

Background: Schizencephaly is a neuronal migration anomaly characterized by presence of a cleft between ependymal layer of the ventricle and pia mater of the cerebral cortex. It may be associated with additional cerebral abnormalities, including polymicrogyria, pachygyria, gray matter heterotopy, ventriculomegaly and corpus callosum agenesis. Case Report: We present a female fetus with schizencephaly accompanied by occipital encephalocele, polymicrogyria, agenesis of the corpus callosum, dysmorphic facies and cardiac muscular ventricular septal defect. Array comparative genomic hybridization (array-cGH) analysis revealed a deletion of chromosome 22q13.32 including FAM19A5 gene that is a member of TAFA family. Conclusions: Schizencephaly may be accompanied by unexpected structural and genetic anomalies as in our case with occipital encephalocele, dysmorphic facies, cardiac ventricular septal defect and chromosome 22q13.32 deletion.

Evaluation of symmetrical increased echogenicity of bilateral caudothalamic grooves detected on cranial ultrasonography by comparing with susceptibility-weighted imaging.

OBJECTIVE: To assess symmetrical increased echogenicity of bilateral caudothalamic grooves (SIEBCG) detected on newborn cranial ultrasonography (CUS) using magnetic resonance susceptibility-weighted imaging (SWI). MATERIALS AND METHODS: A total of 14 newborns (8 girls; 12 premature with mean gestational age of 30 weeks and 5 days, 2 mature) who were detected to have SIEBCG on routine serial CUS and underwent cranial magnetic resonance imaging (MRI) were recruited for the study. The cranial MRI examinations including SWI acquired on the same day of SIEBCG detection and serial CUS to assess the progress of SIEBCG lesions in the following 6 month period were retrospectively evaluated and compared for the presence of germinal matrix hemorrhage. RESULTS: On SWI, solely one patient (7, 1%) had signal alteration on caudothalamic groove compatible with grade 1 germinal matrix hemorrhage. Two patients (14, 2%) had parenchymal (on cerebellar and parietal white matter) millimetric hemorrhagic foci. Seven patients (50%) had signs of presumptive hypoxic insult including hyperintense dots on centrum semiovale and periventricular white matter in five, and increased signal intensity on the globus pallidi in two, on T1-weighted images. Four patients (28, 6%) had normal findings. Of these, 10 patients became normal on follow-up CUS at postterm-equivalent age, whereas four were missing. CONCLUSION: Symmetrical increased echogenicity of bilateral caudothalamic grooves seen on newborn CUS may be the indicator of other pathologies as ischemic insult or focal parenchymal hemorrhage. In the presence of SIEBCG, further examination with SWI should be performed.

Brain Atrophy and Hypomyelination Associated with Iatrogenic Cushing Syndrome in an Infant.

Prolonged use of topical corticosteroids, particularly in infants, albeit rare, may lead to Cushing syndrome. Central nervous system abnormalities including brain atrophy and delayed myelination on cranial magnetic resonance imaging has been reported in patients with corticosteroid treatment. We herein report a 5-month-old female infant referred to Department of Pediatric Endocrinology, Edirne, Turkey with brain atrophy and myelination delay that might be due to iatrogenic Cushing syndrome caused by topical corticosteroid use.

Evaluation of myocardial ischemia in coronary artery disease with cardiac MR perfusion method: comparison with the results of catheter or CT angiography.

AIM: To evaluate the efficacy of the Cardiac Magnetic Resonance Perfusion (CMRP) method in detection of Coronary Artery Disease (CAD) by comparing CMRP findings with the results of Coronary Computed Tomography Angiography (CCTA) or Catheter Coronary Angiography (CCA). METHODS: Thirty one patients in whom CMRP was performed along with CCTA or CCA within a month after CMRP between December 2009 and November 2010 were selected for the study. In CMRP, after adenosine administration as a stress agent Balanced TFE sequences were used to gather dynamic images that include the myocardial first pass of contrast media. Image analysis was performed visually. CMRP findings were compared to CCTA or CCA results for each coronary artery territories and for all territories. RESULTS: Sensitivity, specificity, accuracy, positive predictive value, and negative predictive value of CMRP test in the identification of patients with significant (≥70%) coronary artery stenosis were 94.7%, 83%, 90.3%, 90%, and 90.9% for all coronary arteries, respectively; 94.4%, 84.6%, 90.3%, 89.4%, and 91.6% for left anterior descending artery, respectively; and 100%, 100%, 100%, 100%, and 100% for circumflex and right coronary artery, respectively. There was no statistically significant difference between angiography methods (CCTA/CCA) and CMRP (p>0.05). Methods had good to perfect consistency (ĸ = 0.79-1.00). CONCLUSION: CMRP test seems to be a reasonable alternative for catheter angiography, which is considered the gold standard for evaluation of CAD and exclusion of significant coronary artery obstruction.