Asymptomatic Child Research Articles

A DIFFERENT VIEW OF MINOCA; A RARE CASE OF CORONARY CAMERAL FISTULA

Abstract Coronary cameral fistula (CCF) is defined as an abnormal connection between the coronary artery and the heart chambers. Although rare, most are asymptomatic, usually arising from the right coronary artery and terminating in the right ventricle or right atrium. Often detected incidentally, CCFs may present with symptoms of heart failure or rarely with anginal symptoms. Introduction A coronary cameral fistula is defined as an abnormal connection between the coronary artery and the heart chambers. CCFs are found in less than 1% of the population.[1] The most common coronary artery fistula is that arising from the right coronary artery and spilling into the right ventricle.[2] In particular, CCFs arising from all three epicardial coronary arteries are rare but can be clinically significant. These cases may present with acute coronary syndrome causing steal syndrome. Since there is usually no underlying obstructive lesion, these cases may be diagnosed as myocardial infarction without obstructive coronary arteries (MINOCA)[3] Case; A 51 years old male patient was admitted to the emergency room with a complaint of stabbing chest pain for the last one week. In his anamnesis, he described that the chest pain increased with exertion and radiated to the back. It was learned that he had no known disease and coronary history, was a 20 pack/year smoker, had no family history and was not taking any medication regularly. Vital signs in the emergency room revealed a blood pressure of 120/80 mmHg, pulse rate of 85 per minute and normal saturation. Electrocardiography (ECG) showed sinus rhythm V 1-6 with T negativity 85/min. (Figure 1) Echocardiography revealed no wall motion defect and no major valve pathology. Laboratory findings showed renal function tests within normal range, C-reactive protein within normal range, hemoglobulin level 17.6 gr/dl, HS Troponin-T level 12.9 ng/l (upper limit 14 ng/l). At 3 hours, the control HS Troponin-T level was 69.2 ng/l and the patient was hospitalized in the coronary intensive care unit with a prediagnosis of acute coronary syndrome. Coronary angiography was performed during follow-up. Angiography showed dilatation in the main coronary artery (LMCA), ectasia in the left anterior descending artery (LAD) and circumflex artery (CX), and diffuse tortuosity in the coronaries. CCF formed by the LAD, CX and right coronary artery (RCA) together and spilled into the left ventricle. Opaque filling was observed in the left ventricle. (Figure 2) Although the patient had a low body mass index, dilatation of the coronary arteries was thought to be the effect of steal syndrome caused by multiple fistulas. The patient was admitted to the coronary intensive care unit with medical follow-up. The patient's medical treatment was adjusted as acetylsalicylic acid (ASA) 100 mg pill 1*1, metaprolol 50 mg pill 1*1 and rosuvastatin 20 mg pill 1*1 due to an LDL cholesterol level of 149 mg/dl. In the patient who currently had no signs of heart failure, medical treatment was decided primarily in terms of CCF. The patient was discharged with the recommendation of outpatient follow-up. Discussion and Conclusion; CCFs are rare coronary anomalies.[1] When we look at the etiology, the most common cause of CCFs is abnormal embryogenesis.[4] While the diagnosis can be made at any age, the diagnosis is usually made in early childhood when a heart murmur occurs in an asymptomatic child or in a child with symptoms of heart failure. However, cases of CCF diagnosed at an advanced age with anginal complaints and signs of acute heart failure are seen in the literature. [5]Treatment depends on the anatomical features of the fistula and, of course, the patient's symptoms. While small fistulas may close spontaneously with age, large fistulas may require closure.It may cause anginal symptoms by causing heart failure symptoms and steal syndrome. [6]When we look at the literature, we can see that patients with CCF also present with acute coronary syndrome. [2, 4, 5,] As in the case reported by Alsancak Y et al., CCFs originating from all three coronary arteries cause steal syndrome and are often diagnosed with a prediagnosis of acute coronary syndrome.[7] The absence of an occlusive lesion after angiography in these patients with high troponin levels suggests atherosclerosis at the microvascular level and the diagnosis of MINOCA. [3]Angiography performed with suspicion of stenosis in the coronary arteries and finding a CHF instead of a stenosis may be considered lucky in these patients. The size of the fistula and the possibility that it may lead to heart failure in the follow-up will be the other side of the unlucky coin.

The first report on detecting SARS-CoV-2 inside bacteria of the human gut microbiome: A case series on asymptomatic family members and a child with COVID-19

Many studies report the importance of using feces as source sample for detecting SARS-CoV-2 in patients with COVID-19 symptoms but who are negative to oropharyngeal/ nasopharyngeal tests. Here, we report the case of an asymptomatic child whose family members had negative results with the rapid antigen nasopharyngeal swab tests. The 21-month-old child presented with fever, diarrhea, bilateral conjunctivitis, and conspicuous lacrimation. In this study, analysis for the presence of SARS-CoV-2 in fecal samples by using Luminex technology allowed accurate detection of the presence of the viral RNA in the feces of the child and of all her relatives, which thus resulted to be positive but asymptomatic. It is the first time that SARS-CoV-2- is observed inside the bacteria of the human gut microbiome and outside a matrix resembling extracellular bacterial lysates, in agreement with a bacteriophage mechanism with the images obtained by transmission electron microscopy (TEM), post-embedding immunogold, and by fluorescence microscope. In addition to the typical observations of respiratory symptoms, accurate evaluation of clinical gastrointestinal and neurological symptoms, combined with efficient highly sensitive molecular testing on feces, represent an efficient approach for detecting SARS-CoV-2, and for providing the correct therapy in challenging COVID-19 cases, like the one here reported.

Genomic sequencing in newborn screening: balancing consent with the right of the asymptomatic at-risk child to be found.

In this paper, we explore key aspects of the complex ethical and legal landscape surrounding consent in the context of incorporating genomic sequencing into existing newborn bloodspot screening programs. In particular, we consider the potential impact of genomic sequencing on the health rights of the child in relation to existing consent practices in newborn screening. We begin with an introduction to newborn screening programs and their population health goals. We then discuss public health ethics as a rationale underpinning newborn screening before turning to consent. We go on to describe seven current research projects on genomic sequencing in newborn screening and then introduce the 'right of the asymptomatic at-risk child to be found' as a useful concept to draw on when considering consent to newborn screening. We draw on this novel right to argue for the adoption of "appropriate consent" when it comes to certain uses of genomics in newborn screening. We contend that, for 'virtual panels' at least, appropriate consent proportionately balances the ongoing universality of newborn screening for important health conditions with an acknowledgement of the complex outcomes that bringing a complicated diagnostic technology into the screening domain will generate.

MAX germline mutation-associated pheochromocytoma-paraganglioma syndrome: multiple endocrine neoplasia type 5

The individualized precision management of hereditary pheochromocytoma (PHEO) and paraganglioma (PGL) syndromes (PPGLs) based on molecular diagnosis and molecular subtype is becoming more popular. The newly discovered MAX germline mutation-associated PPGLs are autosomally dominant and rare. To raise awareness and explore the effective management of individual diagnosis and treatment, the relevant literature published between January 2011 and February was systematically reviewed. There were a total of 101 patients in the 77 families, involving all 5 exons, containing 44 types of MAX germline mutations and mostly concentrated in exons 3 and 4 (64.4%), the main mutations were nonsense mutations and missense mutations (72.3%), and some were large fragment deletions or insertions, intron variant, gene fusion mutations were relatively infrequent. Furthermore, about 10% of the patients had a paternal parent-of-origin effect. Among the 101 patients, 96 (95.0%) developed PHEO including 15 metastatic PHEO, 61 bilateral PHEO and 35 unilateral PHEO. The age of diagnosis was (31.7±10.9) years (range: 13 to 80 years). The male to female ratio was 1.2∶1. Eleven were accompanied with chest and abdominal PGL. Eight (7.9%) were accompanied by functional pituitary adenoma. And 12 (11.9%) developed other neuroendocrine tumors (NET), of which 8 were accompanied by PHEO, including 4 hyperparathyroidism, 1 gangliocytoma and neuroblastoma, 1 pancreatic NET, 1 medullary thyroid carcinoma and 1 C cell hyperplasia. Six presented concomitant non-NET, including 1 tongue squamous cell carcinoma, 1 papillary thyroid carcinoma, 1 prostate cancer, 1 renal oncocytoma, 1 breast cancer with renal oncocytoma, and 1 thoracic chondrosarcoma with multifocal adenocarcinoma of lung. The remaining 5 cases (5.0%), including 4 other NET (2 ganglioblastoma, 1 abdominal neuroblastoma and 1 pancreatic NET) and 1 asymptomatic child, did not present PHEO. The MAX germline mutation may cause a novel multiple endocrine neoplasia, which can be described as type 5. A comprehensive baseline assessment of neural crest cell-derived diseases such as PPGL, pituitary adenoma, hyperparathyroidism, and/or gangliocytoma (neuroblastoma) was recommended for all people with MAX germline mutations, and the risk of bilateral and/or metastatic PHEO should also be considered. In contrast, patients with PPGLs combined with other NET, such as functional pituitary adenoma, should undergo genetic testing and pedigree screening that includes at least the MAX gene.

O-275 Prenatal genetic screening to assess mtDNA disease occurrence in children

Abstract Study question Can prenatal genetic testing accurately predict mtDNA mutation load anddisease transmission to children for families affected by Leigh Syndrome? Summary answer Whole genome mtDNA sequencing for 13513G>A mutation in chorionic villi and amniotic fluid was similar to those measured in babies suggesting accuracy of disease prediction. What is known already Severity of mtDNA disease in children depends on heteroplasmy levels(proportion of mutant to wild-type mtDNA). There is a minimum threshold for the mutant mtDNA heteroplasmy (typically 60%) above which oxidative metabolism is impaired to cause disease. Predicting the disease based on the mutation load measured during embryonic or fetal development is critically needed. However, preimplantation genetics screening for many mtDNA mutations has limitations due to the potential increase in heteroplasmy levels after implantation. We hypothesized that prenatal screening of chorionic villi and/or amniotic fluid during the first trimester of pregnancy could provide more reliable diagnosis of disease occurrence in children. Study design, size, duration We evaluated mtDNA heteroplasmy in biopsies collected from chorionic villi and amniotic fluid at 10- and 16-weeks of gestation, respectively, for two consecutive, naturally conceived pregnancies for a carrier of 13513G>A mutation. Sequencing results were compared to mutations in the blood, skin, and urine of children after birth. Both children were also extensively monitored for a few years for disease occurrence. Participants/materials, setting, methods A family with maternally transmitted Leigh Syndrome including both parents and two existing children were enrolled during the initial phase. Whole mtDNA sequencing was used to confirm the maternal transmission of the mutation by analysis of blood, skin, and urine from asymptomatic parents and the older son and the severely affected younger son. Furthermore, prenatal diagnostics were performed for two consecutive pregnancies and children after birth. Main results and the role of chance The mother carried 13513G>A mutation in the skin (91% heteroplasmy), urine(39%), and blood (6.8%), while no mutation was detected in the father’s samples. The asymptomatic eldest child revealed a low mutation in the skin (14%), urine(23%), and blood (10%). While the younger son diagnosed with Leigh syndrome carried 56% mutation in blood, 86% in skin, and 97% in urine. Heteroplasmy ranging from 0.6% to 40% was also measured in 4 individual immature oocytes retrieved upon hormonal stimulation of the carrier. The family later naturally conceived 2 consecutive pregnancies and requested help with prenatal diagnostics. In the first pregnancy, mutation loads were 27.5% in chorionic villi and 29.5% in amniotic fluid. The family decided to keep the pregnancy which resulted in the birth of a healthy child with low mutations in blood (0.07%) and skin (14.5%). In the second pregnancy, prenatal diagnostics in CVS showed low mutation at 0.11%, resulting in the birth of an unaffected child with mutation loads of 1.4% in blood and 0% in skin. Limitations, reasons for caution Genetic counseling for mtDNA disease transmission is difficult due tocomplex inheritance of heteroplasmic variants for various pathogenicmutations. Inheritance and distribution of mtDNA mutations also influencedby individual family genetics. Therefore, prenatal diagnostic screeningshould be cautiously considered based on the specific circumstances for eachfamily. Wider implications of the findings Prenatal genetic diagnostics for families with mtDNA disease based on whole mtDNA sequencing by the qualified laboratory may accurately predict heteroplasmy levels and disease occurrence in children. However, careful analysis of family history and the likelihood of having low mutation load oocytes was critical for the success of our case. Trial registration number N/A

Kidney Measurement and Glomerular Filtration Rate Evolution in Children with Polycystic Kidney Disease.

Autosomal dominant polycystic kidney disease (ADPKD) is an inherited disorder characterized by renal tubular cystic dilatations. The cysts can develop anywhere along the nephron, and over time the cystic dilatation leads to kidney enlargement. On the other hand, the cysts begin to reduce the number of functional nephrons as a consequence of cystic expansion that further contributes to the decline in renal function over the years. The pressure exerted by the dilated cysts leads to compensatory mechanisms that further contribute to the decline in renal function. These structural changes are responsible of glomerular hyperfiltration states, albuminuria, proteinuria, and hematuria. However, the presentation of ADPKD varies in children, from a completely asymptomatic child with incidental ultrasound detection of cysts to a rapidly progressive disease. There have been reports of early onset ADPKD in children younger than 2 years that showed a more rapid decline in renal function. ADPKD is caused by a mutation in PKD1 and PKD2 genes. Today, the PKD1 gene mutation seems to account for up to 85% of the cases worldwide, and it is associated with worse renal outcomes. Individuals with PKD2 gene mutation seem to present a milder form of the disease, with a more delayed onset of end-stage kidney disease. The cardinal sign of ADPKD is the presence of renal cysts during renal ultrasound. The current guidelines provide clinicians the recommendations for genetic testing in children with a positive family history. Given that the vast majority of children with ADPKD present with normal or supra-normal kidney function, we explored the glomerular filtration rates dynamics and the renal ultrasound-adjusted percentiles. In total, 14 out of 16 patients had kidney percentiles over 90%. The gene mutations were equally distributed among our cohort. In addition, we compared the modified Schwartz formula to the quadratic equation after adjusting the serum creatinine measurements. It seems that even though children with ADPKD have enlarged kidneys, the renal function is more likely normal or near normal when the quadratic estimation of glomerular filtration rate is used (qGFR tended to be lower, 111.95 ± 12.43 mL/min/1.73 m2 when compared to Schwartz eGFR 126.28 ± 33.07 mL/min/1.73 m2, p = 0.14). Also, when the quadratic equation was employed, not even a single patient reached the glomerular hyperfiltration threshold. The quadratic formula showed that glomerular filtration rates are linear or slightly decreasing after 1 year of follow-up (quadratic ΔeGFR = -0.32 ± 5.78 mL/min/1.73 m2), as opposed to the Schwartz formula that can falsely classify children in a hyperfiltration state (ΔeGFR = 7.51 ± 19.46 mL/min/1.73 m2), p = 0.019.

Ex vivo C5b-9 Deposition Test to Monitor Complement Activity in Clinical and Subclinical Atypical Hemolytic Uremic Syndrome and in Transplantation-Associated Thrombotic Microangiopathy

IntroductionAtypical Haemolytic Uremic Syndrome (aHUS) is a complement system (CS)-mediated ultrarare disease that manifests as thrombotic microangiopathy (TMA) with preferential small kidney vessels involvement. Transient CS activation is also observed in secondary TMA or in patients at risk to develop aHUS. There is no gold standard test to monitor disease activity but the ex vivo C5b-9 deposition test to be a better approach. MethodsWe assessed the C5b-9 deposition induced by serum samples of patients with aHUS (n=8) and with TMA associated to kidney (n=2), lung (n=1) or hematopoietic stem cell (HSC) transplantation (n=2) during the acute phase of the disease or in remission. As control for transplant associated (TA)-TMA we have analyzed samples of clinically stable kidney and HSC-transplanted patients without signs of TMA. Additionally, we studied one child with genetic risk of aHUS during an acute infection. ResultsIn the acute disease phase or in patients with disease activity despite C5 blockade, a significant increase of C5b-9 deposition was detected. In all patients with clinical response to C5 blockade but one, levels of C5b-9 deposition were within the normal range. Finally, we detected increased C5b-9 deposition levels in an asymptomatic child with genetic risk of aHUS when a concomitant otitis episode was ongoing. ConclusionThe ex vivo C5b-9 deposition test is an auspicious tool to monitor CS activity in aHUS and TA-TMA. In addition, we demonstrate that the test may also be useful to detect subclinical increase of CS activity which expands the spectrum of patients that would benefit from a better CS activity assessment.

Swallowed needle embedded in the right kidney for ten months in a 4-year-old asymptomatic child.

Swallowed needle embedded in the right kidney for ten months in a 4-year-old asymptomatic child.

Unusual Presentation of Wilms' Tumor in a 4-Month-Old Infant as Presternal Metastatic Swelling—A Case Report with Review of Literature

AbstractA 4-month-old infant presented with an enlarging large vascular presternal swelling noticed for the past 2 months. Clinical examination revealed a left renal mass in this otherwise asymptomatic child. She underwent left nephroureterectomy and excision of the skin metastasis following a course of chemotherapy. Preoperative cytology and postoperative histopathological examination confirmed Wilms' tumor with a single skin metastasis. We report this case for its rarity.

Кістозні лімфатичні мальформації кишечника та брижі в дітей: особливості клінічного перебігу та лікувальна тактика

Lymphatic malformations (LMs) - are congenital vascular malformations caused by abnormal embryologic development of the lymphatic system with variable clinical manifestation. Abdominal LMs account approximately 5% of all LMs. The main treatment option for abdominal LMs is surgical. Purpose - to analyze our experience in intestinal and omental LMs diagnosis and treatment, to reveal factors that could influence the complications occurrence risks, that could improve abdominal LMs treatment results in children. Materials and methods. Among 240 pediatric patients, who underwent cystic LMs treatment in a period from December 2012 to July 2022, 43 (19.1%) were diagnosed abdominal and retroperitoneal LMs. 18 (41.8%) patients with intestinal and mesentery affection were included into the study group. Median follow up was 20.7 (95% CI: 12-27) months. Results. Male patients predominated in the study group. Median age at admission was 2.5 (95% CI: 0.75-5) years. 12 (66.6%) had an emergency admission. In 7 (38.8%) children LMs were complicated by intestinal obstruction (n=5; 71.4%), intracystic bleeding and LM cyst infection were observed in n=1, 14.3%) cases both. Surgical treatment was applied in 16 (88.8%) patients, among which 7 (43.7%) underwent laparoscopy. In 4 (25%) cases conversion to laparotomy took place, 5 (31.3%) underwent laparotomic surgeries. No recurrences after surgical treatment were observed. Systemic therapy with mTOR-inhibitors was prescribed in a child with symptomatic total mesentery affection, observational tactics was chosen for asymptomatic child. Conclusions. Intestinal and mesenterial LMs can be asymptomatic or manifest complications, which were observed in 7 (38.8%) children of our group. Macrocystic intestinal LMs are of higher risks of complications development (р=0.0236). Surgical treatment is effective for local intestinal and mesentery affection, excellent treatment result was achieved in 94.1% of patients. In cases with total mesentery affection mTOR-inhibitors systemic therapy is the treatment of choice. The research was carried out in accordance with the principles of the Helsinki Declaration. The study protocol was approved by the Local Ethics Committee of the participating institution. The informed consent of the patient was obtained for conducting the studies. No conflict of interests was declared by the authors.

Flatfoot in Children: A Review of Literature (Point of View)

Flatfoot (pes planus) is described as a reduction or absence of the Medial Longitudinal Arch (MLA) of the foot, with or without additional deformities of the foot and ankle. It is a very common orthopedic manifestation in infants and children and usually resolves by adolescence. Flatfoot is usually flexible and painless with no functional compromise so that described as physiologic. In some rare cases flatfoot can become painful or rigid and may be a sign of pathology such as vertical talus or tarsal coalition. Although it is very common, there is no standard definition and no universally accepted classification system for pediatric flatfoot. Furthermore there are no large, prospective studies comparing the natural history of flatfoot in response to various treatments during the developmental period. Current literature suggests that it is safe and appropriate to simply observe an asymptomatic child with flatfoot. Painful flexible flatfoot may benefit from orthopedic intervention such as physical therapy, orthosis or sometimes a surgical procedure.

Asymptomatic COVID-19 Reinfection in a Pediatric Patient with Heterotaxy Syndrome.

We report an asymptomatic child with heterotaxy syndrome who had recurrent positive SARS-CoV-2 polymerase chain reaction testing. An aberrant lymphocyte population expressing CD19, CD16, and CD56 was identified; its phenotyping revealing atypical NK cells. This subset's role in protection from severe disease or in reinfection cannot be ascertained.

Flat Foot in the Children: a Review of Literature (Expert Opinion)

Flatfoot (pes planus) is described as a reduction or absence of the medial longitudinal arch (MLA) of the foot, with or without additional deformities of the foot and ankle. It is a very common orthopedic manifestation in infants and children and usually resolves by adolescence. Flat foot is usually flexible and painless with no functional compromise so that described as physiologic. In some rare cases flatfoot can become painful or rigid and may be a sign of pathology such as vertical talus or tarsal coalition. Although it is very common, there is no standard definition and no universally accepted classification system for pediatric flatfoot. Furthermore there are no large, prospective studies comparing the natural history of flatfoot in response to various treatments during the developmental period. Current literature suggests that it is safe and appropriate to simply observe an asymptomatic child with flatfoot. Painful flexible flatfoot may benefit from orthopedic intervention such as physical therapy, orthosis or sometimes a surgical procedure.

The tale of Wolfram syndrome in a young child versus an adolescent

Wolfram Syndrome (WS) is a rare autosomal recessive progressive neurodegenerative disorder characterized by juvenile-onset diabetes mellitus (DM) and optic atrophy (OA), known as DIDMOAD (diabetes insipidus [DI], diabetes mellitus, optic atrophy, deafness). Patients present with DM and OA in the first decade, DI and sensorineural deafness in the second decade, urinary tract anomalies, and neurological manifestations later in life. We report two cases with late diagnosed WS in an asymptomatic young child and an adolescent with DI, DM, OA, and deafness to raise awareness regarding the identification of individuals with WS and provide them with immediate treatment and appropriate care.

278 A CASE OF ACCIDENTAL DIAGNOSIS OF ALCAPA SYNDROME IN ASYMPTOMATIC CHILD

Abstract A 7-year-old (y.o.) boy was referred to our center for a specialist evaluation due to alteration of the ventricular repolarization in the anterior and lateral lead on the electrocardiogram at medical evaluation for physical activity. The child was totally asymptomatic, with normal growth and unremarkable past medical history. The physical examination revealed only S4 and a minimal apical systolic murmur. Transthoracic echocardiogram demonstrated a mildly dilated left ventricle (LV) and normal left ventricular ejection fraction. Strain pattern of basal-medium segments of lateral wall was reduced. Right coronary artery (RCA) appeared dilatated and the left coronary artery (LCA) showed an inverse flow at Doppler evaluation. Findings were suspicious for ALCAPA diagnosis (Anomalous Left Coronary Artery Arising from the Pulmonary Artery); a rare congenital heart disease that, if not treated, leads to death in 90% of cases during first year of life. Adult type of ALCAPA (adolescence-60 y.o) is even more rare and can cause heart failure due to a dilatative cardiomyopathy, chronic cardiac ischemia and, in 80-90% of cases, sudden cardiac death. We performed a coronary angiography that confirmed the anomalous origin of LCA from the pulmonary artery. The RCA was dominant, enlarged and supplied an important collateral flow for LCA. Coronary angiography is indicated not only for diagnosis confirmation, but also for coronary tree demonstration, especially in adult type of ALCAPA, because of the presence of not rare anomalies or “adaptation” of peripheral coronary circulation. All these features are important positive prognostic factors that enable survival beyond infancy. LCA ostium stenosis or bronchial artery collateral vessels are also common but weren't seen in this case. In adult type of ALCAPA surgery is usually indicated at the time of diagnosis, so a coronary button transfer and pulmonary Valsalva sinus reconstruction with autologous pericardial patch were performed. This is the preferred surgical technique in adult patients as it is the most anatomic correction. Since before hospitalization heart failure therapy with betablocker was introduced and after surgery aspirin therapy was started too. Post-surgery transthoracic echocardiogram highlighted a moderate pericardial effusion without haemodynamic impact and a pleural effusion, so an anti-inflammatory therapy with ibuprofen, cortisone and then colchicine was started. After discharge anti-inflammatory therapy was under-titrated until suspension based on gradual reduction of pericardial and pleural effusion. Patient was always free of symptoms and with good performance status. ALCAPA or Bland–White–Garland syndrome is an uncommon congenital heart disease. The presence of adequate collateral circulation between RCA and LCA allows to survive beyond infancy (adult type). We described a case of early diagnosis of adult type of ALCAPA in asymptomatic child thanks to a careful examination of basal electrocardiogram for evaluation of non-competitive sport practice.

PEANUTS: a national survey on the management of pediatric tracheobronchial foreign bodies.

To assess the different types of management of pediatric foreign body aspirations in order to help define guidelines, depending on clinical presentation. A national survey in France was emailed to all 30 university-affiliated departments of otolaryngology-head and neck surgery and pediatric pulmonologists in France. Data concerning the center and the experience of each participant were collected in order to define an "senior expert" group with experience of extracting more than 10 foreign bodies and a "junior/non-expert" group. Both groups answered questions concerning five clinical cases of foreign body aspiration of different severities. Ninety-eight participants answered this survey (75 otolaryngologists and 23 pulmonologists), representing 28 of the 30 university-affiliated departments in France with a completion rate of 89%. Responses of the senior expert group were similar for clear-cut situations, such as an asymptomatic child with a low probability of foreign body aspiration and for a symptomatic child with respiratory distress. However, for intermediate situations, management varied significantly according to the physician when considering clinical, radiological, and surgical management. In comparison to the senior expert group, the junior non-expert group seemed more precautious in the management of foreign body aspiration for intermediate cases, in particular, concerning the time at which extraction was performed. Conclusion: The management of foreign body aspiration depends on the physician's experience and the center's habits. In order to optimize patient care for foreign body aspiration, we suggested a management algorithm based on the senior expert group responses. What is Known: •Foreign body aspirations (FBA) are dreaded by pediatricians, pediatric otolaryngologists, and pulmonologists particularly because of the potential fatal outcome. • However, consensus concerning their management is not clearly defined in the literature. What is New: •This study is the first to evaluate the management of foreign body aspirations (FBA) from the clinical assessment by the emergency medicine physician to the extraction of the foreign body. • A management algorithm was designed and secondarily validated by the SE group to help to emergency medicine physician and specialist to manage FBA.

Cross-sectional survey on genetic testing utilization and perceptions in Wisconsin Amish and Mennonite communities.

Amish and Mennonite (Plain) communities have increased prevalence of many recessively inherited disorders due to founder variants that can be identified using next-generation sequencing (NGS). We assessed newborn screening (NBS) utilization, prior genetic testing, and perceptions of genetic testing among Wisconsin Plain communities to guide implementation and utilization of a population-specific NGS gene panel testing. A mailed paper survey (N = 959) of demographics, NBS utilization, prior genetic testing, and preferences for categorical genetic disorder and defined clinical context testing was developed. Overall response rate was 39% (N = 378; 183 Amish, 193 Mennonite; 2 not Amish/Mennonite). Mennonites were more likely to respond in favor of carrier screening for metabolic disorders and other surgical conditions and less likely to respond in favor of asymptomatic testing for neurologic disorders and lethal disorders compared to Amish. Reported utilization of NBS was positively associated with stated interest in genetic testing for an asymptomatic child. Reported prior genetic testing was positively associated with stated interest in carrier screening and negatively associated with testing a symptomatic child. Although Plain community members share many common outward characteristics, our survey responses suggest diversity in their views of genetic testing and support laboratory methods that can be flexible to varied needs of individuals.

Should asymptomatic patients with congenital lung malformations undergo surgery? A decision analysis.

Congenital lung malformations (CLMs) are being detected more frequently during pregnancy. There is controversy regarding the optimal treatment for an asymptomatic child with prenatally diagnosed CLMs. Due to the paucity of information from clinical trials, we developed decision analytic models to compare two treatment strategies for such patients-elective surgical resection versus expectant management. We built decision analytic models stratified by lesion size. We used data from English language literature identified through PubMed searches along with estimates from expert opinions of surgical colleagues. We analyzed results for two hypothetical asymptomatic 6-month-old children with CLMs; one has a large lesion occupying more than 50% of the involved lobe, while the other has a small lesion occupying less than 50% of the involved lobe. We used quality-adjusted life years (QALYs) to measure effectiveness. For an asymptomatic child with a small or large lesion, expectant management resulted in a small gain of 0.09 or 0.15 QALYs, respectively. Sensitivity analyses showed that surgical resection would be preferred if the probability of remaining asymptomatic was low. In contrast to current practice, expectant management may be a better alternative for asymptomatic children born with CLMs. More longitudinal studies are required to improve the accuracy of the model.

Pediatrik Pes Planus (düztabanlık)

Flatfoot (pes planus) is described as a reduction or absence of the medial longitudinal arch (MLA) of the foot, with or without additional deformities of the foot and ankle. It is a very common orthopedic manifestation in infants and children and usually resolves by adolescence. Flat foot is usually flexible and painless with no functional compromise so that described as physiologic. In some rare cases flatfoot can become painful or rigid and may be a sign of pathology such as vertical talus or tarsal coalition. Although it is very common, there is no standard definition and no universally accepted classification system for pediatric flatfoot. Furthermore there are no large, prospective studies comparing the natural history of flatfoot in response to various treatments during the developmental period. Current literature suggests that it is safe and appropriate to simply observe an asymptomatic child with flatfoot. Painful flexible flatfoot may benefit from orthopedic intervention such as physical therapy, orthosis or sometimes a surgical procedure.Keywords: Pes planus, flatfoot, infant, child, foot arch, surgery

Acceptance of Different Self-sampling Methods for Semiweekly SARS-CoV-2 Testing in Asymptomatic Children and Childcare Workers at German Day Care Centers

Closure of day care centers (DCCs) to contain the COVID-19 pandemic has been associated with negative effects on children's health and well-being. To investigate the acceptance of self-sampling methods for continuous SARS-CoV-2 surveillance among asymptomatic children and childcare workers (CCWs) in DCCs. This nonrandomized pilot study included children and CCWs at 9 DCCs in Wuerzburg, Germany, from May to July 2021. Twice weekly testing for SARS-CoV-2 was conducted by self-sampled mouth-rinsing fluid (saliva sampling [SAL], with subsequent pooled polymerase chain reaction test) plus nasal rapid antigen self-test (RAgT) (group 1), SAL only (group 2), or RAgT only (group 3) in children and CCWs. Main outcomes were rates for initial acceptance and successful (≥60% of scheduled samples) long-term participation. The probability of SARS-CoV-2 introduction into DCCs was modeled as a function of age-adjusted background incidence and DCC size. Of 836 eligible children, 452 (54.1%; 95% CI, 50.7%-57.4%) participated (median [IQR] age: 4 [3-5] years; 213 [47.1%] girls), including 215 (47.6%) in group 1, 172 (38.1%) in group 2, and 65 (14.4%) in group 3. Of 190 CCWs, 139 (73.2%; 95% CI, 66.4%-79.0%) participated (median [IQR] age: 30 [25-46] years; 128 [92.1%] women), including 96 (69.1%) in group 1, 29 (20.9%) in group 2, and 14 (10.1%) in group 3. Overall, SARS-CoV-2 PCR tests on 5306 SAL samples and 2896 RAgTs were performed in children, with 1 asymptomatic child detected by PCR from SAL. Successful long-term participation was highest in group 2 (SAL only; children: 111 of 172 [64.5%]; CCWs: 18 of 29 [62.1%]). Weekly participation rates in children ranged from 54.0% to 83.8% for SAL and from 44.6% to 61.4% for RAgT. Participation rates decreased during the study course (P < .001). The probability of SARS-CoV-2 introduction into a DCC with 50 children was estimated to reach at most 5% for an age-adjusted SARS-CoV-2 incidence below 143. Self-sampling for continuous SARS-CoV-2 testing was well accepted, with SAL being the preferred method. Given the high number of negative tests, thresholds for initiating continuous testing should be established based on age-adjusted SARS-CoV-2 incidence rates. German Registry for Clinical Trials Identifier: DRKS00025546.