Showing papers in "Translational pediatrics in 2017"

Metabolic syndrome in children and adolescents.

Abstract: Prevalence of metabolic syndrome in children and adolescents is increasing, in parallel with the increasing trends in obesity rates. Varying definitions of this syndrome have hindered the development of a consensus for the diagnostic criteria in the pediatric population. While pathogenesis of metabolic syndrome is not completely understood, insulin resistance and subsequent inflammation are thought to be among its main mechanistic underpinnings. Overweight and obesity are cardinal features, along with abnormal glucose metabolism, dyslipidemia, and hypertension. Other disorders associated with metabolic syndrome include fatty liver, polycystic ovarian syndrome (PCOS), and pro-inflammatory states. Prevention and management of this condition can be accomplished with lifestyle modifications, behavioral interventions, pharmacological and surgical interventions as needed.

Participation in sports in relation to adolescent growth and development.

Abstract: Puberty is defined by physical growth, development of secondary sexual characteristics, and maturation of psychosocial skills. The initiation and rate of progression of pubertal events varies among adolescents, but pubertal changes occur in a predictable stepwise manner. Factors including individual differences in physical and psychosocial development, stage of development based on age (early, middle, and late), and the rate of pubertal development, may all contribute to the way in which adolescents experience sports activities. During adolescence, gender differences also become more apparent and may significantly impact sports participation. As practitioners evaluate overall development and adolescent readiness for sports participation, they should consider the different areas of development including: somatic, neurologic, cognitive, psychosocial-function in an integrated and interdependent approach.

Epidemiology of sports-related musculoskeletal injuries in young athletes in United States

Abstract: Over the past several decades there has been increased participation in sports by children and adolescents at earlier ages in the United States, as well as more intense participation and specialization in sports at very early ages. This trend has also partly contributed to the patterns of injuries seen in young athletes, and especially in recent years, injuries previously seen in mature athletes are being seen in young athletes. Overall, the vast majority of sport-related musculoskeletal injuries in children and adolescents are due to repetitive overuse and acute macrotrauma is less frequently seen in young athletes. Epidemiological data on sports injuries are provided by several national surveys. Investigators have used different methods to define sports injuries and the most widely used definition is based on athlete-exposure time. Certain aspects related to adolescent growth and development modulate the pattern of injuries. This article provides an overview of the epidemiology of sports-related musculoskeletal injuries seen in children and adolescents.

Dermatologic manifestations of endocrine disorders

Abstract: The skin serves as a window for clinicians to understand, diagnose, and monitor endocrine disease. Dermatologic manifestations of endocrinopathies contribute significantly to an individual’s health and quality of life. In this review, we outline various disorders of the hypothalamic-pituitary axis, thyroid gland, pancreas, adrenal gland, and androgen axis as well as hereditary endocrine syndromes. In acromegaly, glycosaminoglycan deposition contributes to a thickening of skin and soft tissue, which manifests as coarsening and enlargement of facial and acral structures. Stimulation of the thyrotropin receptor in hyperthyroidism results in mesenchymal tissue proliferation and consequent pretibial myxedema; other associated cutaneous features include onycholysis, and hyperhidrosis. Individuals with hypothyroidism exhibit cold, dry skin and brittle hair as well as a jaundice-like appearance due to carotene excess. The cutaneous features of diabetes mellitus (DM), mediated to a large extent by hyperglycemia and hyperinsulinemia, include necrobiosis lipoidica diabeticorum (NLD), diabetic dermopathy, and acanthosis nigricans. Pediatric patients with Cushing’s syndrome almost invariably present with truncal obesity and growth retardation; disruption of collagen formation and the catabolic effects of hypercortisolism result in skin atrophy and purple abdominal striae. In patients with Addison’s disease, generalized hyperpigmentation, secondary to elevated levels of melanocyte-stimulating hormone (MSH), is most prominent in sun-exposed areas. Due to hyperandrogenism, individuals with polycystic ovarian syndrome (PCOS) often exhibit hirsutism, acne vulgaris, and androgenetic alopecia. In multiple endocrine neoplasia (MEN) syndromes, specific gene mutations may lead to angiofibromas, lichen amyloidosis, and ganglioneuromas. Disruptions of immune regulation result in autoimmune polyglandular syndromes (APS) and associated clinical features including chronic mucocutaneous candidiasis, vitiligo, and alopecia areata. This paper highlights the underlying pathophysiology, dermatologic manifestations, and treatment of the aforementioned endocrine disorders.

Review of Prader-Willi syndrome: the endocrine approach

Abstract: Prader-Willi syndrome (PWS) is a complex genetic disorder with implications on the endocrine and neurologic systems, metabolism, and behavior. Early in life, PWS is characterized by hypotonia and failure to thrive, followed by obesity and hyperphagia. Patients with PWS develop hypothalamic dysfunction which may lead growth hormone deficiency (GHD), hypogonadism, hypothyroidism, adrenal insufficiency, and poor bone mineral density (BMD). In addition to hypothalamic dysfunction, individuals with PWS have increased risk for obesity which may be complicated by metabolic syndrome and type 2 diabetes mellitus (T2DM). In this paper, we will review the current literature pertaining to the endocrine concerns of PWS and current recommendations for screening and management of these conditions.

Resistance training for children and adolescents.

Abstract: As more children and adolescents are becoming involved in exercise and school or community based athletics, attention is turned towards proper training and conditioning to optimize performance, stimulate athletic development and ensure safety while tolerating long-term competition Resistance training (RT) refers to the methodology of ensuring such optimal performance and safety This is a common component of sports and physical fitness in schools and organized athletic programs around the country RT is a physical conditioning program that involves various training techniques (eg, machine based, free weight, plyometric, complex and functional training) and progressively increasing resistive loads to achieve desired muscle endurance, strength, power or a combination of the above Proper RT programs have a plethora of associated benefits including increased strength, lower rates of sports-related injury, increased bone strength index (BSI), decreased risk of fracture and improved self-esteem and interest in fitness There are risks involved with improper or poor training programs Proper training programs involve knowledgeable trainers, effective supervision and tailored weight training

Clown therapy: not only a pediatric matter.

Abstract: Clown therapy is currently an important aspect of the hospital care setting in pediatric units worldwide, since the notorious Patch Adams first introduced this practice in hospital not too long ago. As he recently reiterated, love and humour are key features of this context of the medical setting (1).

Hypoglycemia in the preterm neonate: etiopathogenesis, diagnosis, management and long-term outcomes

Abstract: Glucose, like oxygen, is of fundamental importance for any living being and it is the major energy source for the fetus and the neonate during gestation. The placenta ensures a steady supply of glucose to the fetus, while birth marks a sudden change in substrate delivery and a major change in metabolism. Hypoglycemia is one of the most common pathologies encountered in the neonatal intensive care unit and affects a wide range of neonates. Preterm, small for gestational age (GA) and intra-uterine growth restricted neonates are especially vulnerable due to their lack of metabolic reserves and associated co-morbidities. Nearly 30-60% of these high-risk infants are hypoglycemic and require immediate intervention. Preterm neonates are uniquely predisposed to developing hypoglycemia and its associated complications due to their limited glycogen and fat stores, inability to generate new glucose using gluconeogenesis pathways, have higher metabolic demands due to a relatively larger brain size, and are unable to mount a counter-regulatory response to hypoglycemia. In this review we will discuss the epidemiology; pathophysiology; clinical presentation; management and neurodevelopmental outcomes in affected infants and summarize evidence to develop a rational and scientific approach to this common problem.

Evaluation and management of knee pain in young athletes: overuse injuries of the knee.

Abstract: Recurrent or chronic activity related knee pain is common in young athletes. Numerous intrinsic conditions affecting the knee can cause such pain. In addition, knee pain can be referred pain from low back, hip or pelvic pathology. The most common cause of knee pain in young athletes is patellofemoral pain syndrome, or more appropriately termed idiopathic anterior knee pain. Although, numerous anatomical and biomechanical factors have been postulated to contribute the knee pain in young athletes, the most common underlying reason is overuse injury. In this paper, we have reviewed selected conditions that case knee pain in athletes, including anterior knee pain syndrome, Osgood-Schlatter disease, Sinding-Larsen-Johanssen syndrome, juvenile osteochondritis dissecans (JOCD), bipartite patella, plica syndrome, and tendonitis around the knee.

Evaluation and management of lower back pain in young athletes

Abstract: Lower back pain in young athletes is a common problem. The prevalence of back pain from different causes in adolescent age group is between 20% and 30%. However, the incidence of low back pain in young athletes varies widely in different sports. Overuse injuries are the most common cause of low back pain in young athletes. In case of overuse injuries, the cause and effect relationship between back pain and specific condition is often difficult to establish. In adolescent athletes, the most common underlying identified cause of low back pain is lumbar spondylolysis. During adolescent growth spurt, the severity of the pain generally correlates with adolescent growth spurt. Participation in sports starting at an early age and for a longer duration tends to increase the risk for back pain. Numerous conditions cause low back pain in athletes. These include acute trauma, chronic overuse or repetitive trauma, and referred pain. Our focus in here will be on selected conditions that cause recurrent or chronic low back pain.

Polycystic ovary syndrome in adolescence: diagnostic and therapeutic strategies.

Abstract: Controversy continues about the underlying etiopathogenesis, diagnostic criteria, and recommendations for polycystic ovary syndrome (PCOS) in adolescents. Recent literature has recognized these deficiencies and evidence based expert recommendations have become more available. The purpose of this chapter is to offer primary care providers a practical understanding and approach to the diagnosis and treatment of PCOS in adolescents. Although the presence of polycystic ovary morphology (PCOM) is included as a key diagnostic criterion of PCOS in adults, it is currently not recommended for the diagnosis in adolescents. As such, the diagnosis of PCOS in adolescents currently hinges on evidence of ovulatory dysfunction and androgen excess. Recommended evidence of ovulatory dysfunction includes: consecutive menstrual intervals >90 days even in the first year after menstrual onset; menstrual intervals persistently 45 days 2 or more years after menarche; and lack of menses by 15 years or 2–3 years after breast budding. Recommended evidence of androgen excess include: moderate to severe hirsutism; persistent acne unresponsive to topical therapy; and persistent elevation of serum total and/or free testosterone level. Importantly, a definitive diagnosis of PCOS is not needed to initiate treatment. Treatment may decrease risk of future comorbidity even in the absence of a definitive diagnosis. Deferring diagnosis, while providing symptom treatment and regular/ frequent follow-up of symptomology, is a recommended option. The treatment options for PCOS should be individualized to the presentation, needs, and preferences of each patient. Goals of treatment are to improve quality of life and long-term health outcomes. Lifestyle modifications remain first-line management of overweight and obese adolescents with PCOS. Combined oral contraceptives (COC) are first line pharmacotherapy for management of menstrual irregularity and acne, and metformin is superior to COCs for weight reduction and improved dysglycemia. COCs and metformin have similar effects on hirsutism, but often need to be paired with other treatment modalities to achieve further improvement of cutaneous symptoms. Clinicians should be cognizant that PCOS is associated with significant metabolic and psychological comorbidity and screen for these issues appropriately.

Psychosocial aspects of diabetes management: dilemma of diabetes distress

Abstract: Diabetes mellitus (DM) is a debilitating chronic illness with complex pathophysiological, psychological, and quality of life (QoL) implications creating a constant state of turbulence. Some of these interconnections are apparent to healthcare providers and are easily addressed in a routine diabetic clinical care. However, a large number of these hidden factors that interplay with each other and impact on the physical outcomes of DM goes unnoticed by health care providers. This is a frustrating and lonely predicament for DM patients making it very difficult for them to manage their illness well. At times these patients are mislabeled as "difficult patients". In other cases they are considered to have and unnecessarily treated for psychiatric illness like depression, other mood or anxiety spectrum disorders which they may not need. In recent years clinical researcher are making strides in understanding the emotional distress a DM patient may feel and the factors contributing or perpetuating diabetes distress. This article focuses on understanding the diabetes distress and how it impacts our patients, how to screen, assess, treat and eventually prevent it from happening. The paper also attempt to bring out the major differences between diabetes distress and common psychiatric comorbidities of DM including but not limiting to major depressive disorder and other depression spectrum disorders.

Transient hypothyroidism in the newborn: to treat or not to treat.

Abstract: Transient congenital hypothyroidism (CH) refers to a temporary deficiency of thyroid hormone identified after birth, with low thyroxine (T4) and elevated thyrotropin (TSH), which later recovers to improved thyroxine production, typically in first few months of infancy. Approximately 17% to 40% of children diagnosed with CH by newborn screening (NBS) programs were later determined to have transient hypothyroidism. Causes of transient CH are prematurity, iodine deficiency, maternal thyrotropin receptor blocking antibodies, maternal intake of anti-thyroid drugs, maternal or neonatal iodine exposure, loss of function mutations and hepatic hemangiomas. The classic clinical symptoms and signs of CH are usually absent immediately after birth in vast majority of infants due to temporary protection from maternal thyroxine. NBS has been largely successful in preventing intellectual disability by early detection of CH by performing thyroid function tests in infants with abnormal screening results. In this review we present the evidence for decision making regarding treatment vs. withholding treatment in infants with transient CH and present a rational approach to identifying transient CH based on American Academy of Pediatrics (AAP) recommendation.

Recovery of steroid induced adrenal insufficiency.

Abstract: Secondary adrenal insufficiency can result from insufficient stimulation of the adrenal glands due to inadequate secretion or synthesis of adrenocorticotropic hormone (ACTH). This can be caused by hypopituitarism, central nervous system injury (tumors, radiation, and surgery) or long-term glucocorticoid therapy. Glucocorticoids were introduced in the 1950s, and have been used for their anti-inflammatory and other pharmacological effects, and also as replacement therapy for adrenal insufficiency. However, chronic glucocorticoid use may lead to suppression of the hypothalamic pituitary adrenal axis through negative feedback. This may lead to secondary adrenal insufficiency. Typically, the hypothalamic pituitary adrenal axis recovers after cessation of glucocorticoids, but the timing of recovery can be variable and can take anywhere from 6-12 months. Understanding the effect of exogenous glucocorticoids on the hypothalamic pituitary adrenal axis, recovery of the axis, and tests used to assess the recovery, are crucial to avoid prescribing unnecessary steroid replacement or missing a critical diagnosis with detrimental consequences.

Approach to hypoglycemia in infants and children.

Abstract: Hypoglycemia is a heterogeneous disorder with many different possible etiologies, including hyperinsulinism, glycogen storage disorders, fatty acid disorders, hormonal deficiencies, and metabolic defects, among others. This condition affects newborns to adolescents, with various approaches to diagnosis and management. This paper will review current literature on the history of hypoglycemia, current discussion on the definition of hypoglycemia, as well as etiologies, diagnosis, and management.

Sports participation recommendations for patients with bleeding disorders

Abstract: There are several sets of guidelines recommending sports participation for patients with bleeding disorders. Though there is a perceived risk of injury and the associated bleeding complications, several studies have been done in this patient population and have found no increased risk. In addition, there are many other benefits to participation including improvement in physical fitness status, better health outcomes, improvement in quality of life, and the development of increased flexibility, gait coordination, and muscular strength, which may actually reduce the risk of subsequent injury. With adequate pre-participation preparation and surveillance, patients with hemophilia have few restrictions in their choice of activity. In the United States, the National Hemophilia Foundation (NHF) proposes stratification of activities into safe, safe-to-moderate, moderate, moderate-to-dangerous, and dangerous risk groups. The safe through moderate categories can be routinely recommended with the proper preparation. Though hematologists often use these recommendations when counseling their patients, these guidelines may not be as accessible for primary care and sports medicine providers. This article is to serve as a review of the related literature, specifically on the benefits of physical activity without an increased risk of injury in hemophilia patients, and will summarize a set of recommendations regarding safe athletic participation for individuals with bleeding disorders from both individual studies and from health regulatory bodies like the NHF.

The dilemma of diagnostic testing for Prader-Willi syndrome.

Abstract: Although Prader-Willi syndrome (PWS) is a well-described clinical dysmorphic syndrome, DNA testing is required for a definitive diagnosis. A definitive diagnosis can be made in approximately 99% of cases using DNA testing; there are a number of DNA tests that can be used for this purpose, although there is no set standard algorithm of testing. The dilemma arises because of the complex genetic mechanisms at the basis of PWS, which need to be elucidated. To establish the molecular mechanism with a complete work up, involves at least 2 tests. Here we discuss the commonly used tests currently available and suggest a cost—effective approach to diagnostic testing.

Laparoscopic transposition of lower pole crossing vessels (vascular hitch) in children with pelviureteric junction obstruction

Abstract: Background: Congenital hydronephrosis due to intrinsic or extrinsic uretero-pelvic-junction (UPJ) obstruction (UPJO) is a common problem in childhood UPJO may be caused by intrinsic disorganization or by extrinsic compression from crossing vessels (CV); extrinsic causes usually present symptomatically in older children. This report the large Italian experience in the treatment of children with extrinsic-UPJO by CV. Methods: We analyzed the data of 51 children (17 girls and 34 boys, median age 10, 7 years) affected by extrinsic-UPJO were treated in three Italian institutions with laparoscopic transposition of CV (Hellstrom Vascular Hitch modified by Chapman).The intraoperative diuretic-test was performed in all patients before and after the vessels transpositions confirming the extrinsic-UPJO. We included in the study only patients with suspicion of vascular extrinsic obstruction of the UPJ. Symptoms at presentation were recurrent abdominal/flank pain and haematuria. All patients presented intermittent ultrasound (US) detection of hydronephrosis (range: 18–100 mm). Preoperative diagnostic studies included: US/doppler scan, MAG3-renogram, functional-magnetic-resonance-urography (fMRU). Results: Median operative time was 108 minutes; median hospital stay: 3, 4 days. Unique complications: a small abdominal wall hematoma and higher junction-translocation without obstruction. During follow-up (range: 12–96 months) all patients reported resolution of their symptoms, a decrease in the hydronephrosis grade and improved drainage on diuretic renogram. Conclusions: We believe that Vascular Hitch is less technically demanding than laparoscopic pyeloplasty, resulting in a lower complication rate and a significantly reduced hospitalization. The results of our study allow us to conclude that laparoscopic VH may be a safe, feasible, and attractive alternative to treat obstructed hydronephrosis due to CV presenting a useful alternative to AHDP in the management of symptomatic children where CV are deemed the sole aetiology. We recommend careful patient selection based on preoperative clinical and radiologic findings that are diagnostic of extrinsic-UPJO, combined with intraoperative-DT to confirm the appropriate selection of corrective procedure.

The female athlete triad: special considerations for adolescent female athletes.

Abstract: The number of adolescent girls participating in sports has dramatically increased throughout the last few decades. In the early 1990’s, an association between amenorrhea, osteoporosis, and disordered eating was recognized and eventually labeled the ‘Female Athlete Triad’. In 1997, the Task Force on Women’s Issues of American College of Sports Medicine (ACSM) published a position statement on this triad of conditions that were becoming increasingly more prevalent amongst female athletes. Initially, the ‘Female Athlete Triad’ was characterized by disordered eating, amenorrhea, and osteoporosis. However, as the number of adolescent female athletes has continued to grow, there has been further research and investigation into this field and the triad has evolved in definition. It is essential for all health care practitioners and other professionals who care for adolescent athletes to be attentive to the clinical signs, detection, evaluation, and management of the female athlete triad, as the sequelae can have a significant impact on the health and well-being of a young person both in the short and long-term.

Zoledronic acid in pediatric metabolic bone disorders.

Abstract: Zoledronic acid (ZA), a highly potent intravenous bisphosphonate (BP), has been increasingly used in children with primary and secondary osteoporosis due to its convenience of shorter infusion time and less frequent dosing compared to pamidronate. Many studies have also demonstrated beneficial effects of ZA in other conditions such as hypercalcemia of malignancy, fibrous dysplasia (FD), chemotherapy-related osteonecrosis (ON) and metastatic bone disease. This review summarizes pharmacologic properties, mechanism of action, dosing regimen, and therapeutic outcomes of ZA in a variety of metabolic bone disorders in children. Several potential novel uses of ZA are also discussed. Safety concerns and adverse effects are also highlighted.

Type 1 diabetes: where are we in 2017?

Abstract: Type 1 diabetes mellitus is a chronic state of insulin deficiency which results from destruction of beta cells by the immune system. The long term microvascular and macrovascular complications can be devastating. Since the discovery of insulin almost 100 years ago new medical therapies have improved the long-term survival for people with type 1 diabetes. Each year we come closer to discovering a cure but much work still needs to be done to eliminate this disease.

A pilot validation study of crowdsourcing systematic reviews: update of a searchable database of pediatric clinical trials of high-dose vitamin D.

Abstract: Background: Completing large systematic reviews and maintaining them up to date poses significant challenges. This is mainly due to the toll required of a small group of experts to screen and extract potentially eligible citations. Automated approaches have failed so far in providing an accessible and adaptable tool to the research community. Over the past decade, crowdsourcing has become attractive in the scientific field, and implementing it in citation screening could save the investigative team significant work and decrease the time to publication. Methods: Citations from the 2015 update of a pediatrics vitamin D systematic review were uploaded to an online platform designed for crowdsourcing the screening process (http://www.CHEORI.org/en/CrowdScreenOverview). Three sets of exclusion criteria were used for screening, with a review of abstracts at level one, and full-text eligibility determined through two screening stages. Two trained reviewers, who participated in the initial systematic review, established citation eligibility. In parallel, each citation received four independent assessments from an untrained crowd with a medical background. Citations were retained or excluded if they received three congruent assessments. Otherwise, they were reviewed by the principal investigator. Measured outcomes included sensitivity of the crowd to retain eligible studies, and potential work saved defined as citations sorted by the crowd (excluded or retained) without involvement of the principal investigator. Results: A total of 148 citations for screening were identified, of which 20 met eligibility criteria (true positives). The four reviewers from the crowd agreed completely on 63% (95% CI: 57–69%) of assessments, and achieved a sensitivity of 100% (95% CI: 88–100%) and a specificity of 99% (95% CI: 96–100%). Potential work saved to the research team was 84% (95% CI: 77–89%) at the abstract screening stage, and 73% (95% CI: 67–79%) through all three levels. In addition, different thresholds for citation retention and exclusion were assessed. With an algorithm favoring sensitivity (citation excluded only if all four reviewers agree), sensitivity was maintained at 100%, with a decrease of potential work saved to 66% (95% CI: 59–71%). In contrast, increasing the threshold required for retention (exclude all citations not obtaining 3/4 retain assessments) decreased sensitivity to 85% (95% CI: 65–96%), while improving potential workload saved to 92% (95% CI: 88–95%). Conclusions: This study demonstrates the accuracy of crowdsourcing for systematic review citations screening, with retention of all eligible articles and a significant reduction in the work required from the investigative team. Together, these two findings suggest that crowdsourcing could represent a significant advancement in the area of systematic review. Future directions include further study to assess validity across medical fields and determination of the capacity of a non-medical crowd.

Laparoscopic management of urachal cysts

Abstract: Background: The urachus and the urachal remnants represent a failure in the obliteration of the allantois at birth that connects the bladder to the umbilicus. After birth it obliterates and presents as the midline umbilical ligament. Urachal cyst are the most common urachal anomaly in the pediatric population. The traditional surgical approach is a semicircular infraumbilical incision or a lower midline laparotomy. Methods: In a 10 years period at Pediatric Surgery Department of Vicenza 16 children were diagnosed with urachal anomalies presenting as abdominal or urinary symptoms. Eight underwent open excision; eight were treated by laparoscopic surgery. The average age was 5.5 years (range, 4 months–13 years) in open group and 10 years (range, 1 month–18 years) in laparoscopic group. Results: Mean operative time was 63 minutes (range, 35–105 minutes) in open group, 50 minutes (range, 35–90 minutes) in laparoscopic group. There were no postoperative complications. The patients of laparoscopic group were all discharged after few days (range, 2–4 days). Pathological examination confirmed a benign urachal remnant in all cases. Reporting our experience since comparing the two surgical approaches we want to describe the technique step by step of laparoscopic urachal cyst excision as minimally invasive diagnostic and surgical techniques. Conclusions: Laparoscopy represent a useful alternative for the management of persistent or infected urachus, in particular when there’s the suspect despite the lack of radiological evidence. The morbidity associated with this approach is very low as the risk or recurrence. Laparoscopy in the management of urachal cyst is safe effective and ensures good cosmesis with all the advantages of minimally invasive approach.

Transition of care for patients with type 1 diabetes mellitus from pediatric to adult health care systems.

Abstract: Planning for the transition from pediatric to adult healthcare is broadly understood to be beneficial to the quality of care of patients with chronic illness. Due to the level of self-care that is necessary in the maintenance of most chronic diseases, it is important that pediatric settings can offer support during a time when adolescents are beginning to take more responsibility in all areas of their lives. Lack of supportive resources for adolescents with chronic conditions often results in both decreased access to care and impaired health and function likely leading to increased medical costs later. Additionally, fundamental differences in health care delivery exist between pediatric and adult care settings. There is limited empiric data and information on best practices in transition care. In this article we address the importance of bridging pediatric and adult care settings and highlight the challenges and successes of the implementation of the young adult transition clinic program for patients with type 1 diabetes at our facility. We provide recommendations for further research and program implementation with the transition population.

Current management of non-palpable testes: a literature review and clinical results.

Abstract: Cryptorchidism is a common pathology that occurs in 3% in full term newborns, and it decreases to 0.8-1.2% at 1 year of age. Nearly a 20% of undescended testes are non-palpable. Various surgical treatments have been described, but its management is still controversial. A literature review was made of non-palpable testes, analysing diagnostic tools, treatment and its results. Additionally we reviewed non-palpable testes cases treated in our centre in the last 20 years. Different techniques are described for the management of non-palpable testes; with or without section of the spermatic vessels and/or in 1 or 2 stages. Nowadays, literature supports the laparoscopic management in two stages. In our experience, we have better results in two-stage Fowler-Stephens than one-stage, with lower rates of testicular atrophy. Non-palpable testes are a common pathology in paediatric urology. Analysing the literature and our experience we recommend a two-stage surgery for intra-abdominal testes, which has demonstrated good results and lower percentage of atrophic testis.

What's the best minimal invasive approach to pediatric nephrectomy and heminephrectomy: conventional laparoscopy (CL), single-site (LESS) or robotics (RAS)?

Abstract: Background: Conventional laparoscopy (CL) using 3–5 mm ports has become the goldstandard for pediatric nephrectomy (N), heminephrectomy (HN) and heminephrecto-ureterectomy (HNU) for many years now. Recently the spectrum of minimal invasive surgery (MIS) has been extended by variants like laparoendoscopic single-site surgery (LESS) or robot-assisted surgery (RAS). However such technical developments tend to drive surgical euphoria and feasibility studies, but may miss adequate academic research about function and proven patients’ benefits. This article delivers a comprehensive analysis of present pediatric studies comparing at least two MIS approaches to N, HN and HNU. Methods: A systematic literature-based search for studies published between 2011–2016 about CL versus LESS or RAS for pediatric N, HN, and HNU was performed using multiple electronic databases and sources. The level of evidence was determined using the Oxford Centre for Evidence-based Medicine (OCEBM) criteria. Single arm observational studies about N, HN or HNU using CL, LESS or RAS as well as publications including adult patients were excluded. Results: A total of 11 studies met defined inclusion criteria, reporting on CL versus LESS or RAS. No studies of OCEBM Level 1 or 2 were identified. Performing CL for N and HN limited evidence indicated reduced analgesic requirements and shorter hospital stay over open surgery, but longer operating time. Preservation of renal function of the remaining moiety after CL-HN was 95%. Importantly, of patients losing their remaining moiety, median age at surgery was 9 months (range, 4–42 months), and all except 1 (6/7) had an upper pole HN. Several authors compared TNP versus RPN access for CL and confirmed a longer operating time for RPN versus TPN-NU. Moreover one study reported a longer ureteric stump in RPN versus TPN-HNU (range 2–5 cm versus 3–7 mm). Disadvantages of LESS or RAS over CL were longer operative time and higher total costs (RAS). There were no differences regarding complications, success rates, or short-term outcomes between pediatric RAS versus CL. No long-term studies about preservation of renal function or length of ureteric stump using LESS or RAS could be retrieved. Conclusions: Several approaches to MIS-NU and HNU are available today. CL represents the method of choice for any age group. TPN or RPN can be chosen according to age of the patient. LESS and RAS offer distinct advantages, but also lack evident patients’ benefits over CL at present. Hopefully, as pediatric MIS advances over the next decade, larger studies comparing CL, LESS or RAS directly for pediatric NU and HNU will be published to gain a higher level of evidence what’s really best for the child.

Disorders/differences of sex development (DSDs) for primary care: the approach to the infant with ambiguous genitalia.

Abstract: The initial management of the neonate with ambiguous genitalia can be a very stressful and anxious time for families, as well as for the general practitioner or neonatologist. A timely approach must be sensitive and attend to the psychosocial needs of the family. In addition, it must also effectively address the diagnostic dilemma that is frequently seen in the care of patients with disorders of sex development (DSDs). One great challenge is assigning a sex of rearing, which must take into account a variety of factors including the clinical, biochemical and radiologic clues as to the etiology of the atypical genitalia (AG). However, other important aspects cannot be overlooked, and these include parental and cultural views, as well as the future outlook in terms of surgery and fertility potential. Achieving optimal outcomes requires open and transparent dialogue with the family and caregivers, and should harness the resources of a multidisciplinary team. The multiple facets of this approach are outlined in this review.

Adult-onset deletion of the Prader-Willi syndrome susceptibility gene Snord116 in mice results in reduced feeding and increased fat mass

Abstract: Background: The imprinted small nucleolar RNA (snoRNA) Snord116 is implicated in the aetiology of Prader-Willi syndrome (PWS), a disease associated with hyperphagia and obesity. Germline deletion of Snord116 in mice has been found to lead to increased food intake but not to the development of obesity. To determine the role of Snord116 independent of potential compensatory developmental factors, we investigated the effects of conditional adult-onset deletion of Snord116 in mice. Methods: Deletion of Snord116 was induced at 8 weeks of age by oral administration of tamoxifen to male Snord lox/lox ; ROSA cre/+ mice, with vehicle-treated mice used as controls. Body weight (BW) was monitored weekly and body composition was measured by dual-energy X-ray absorptiometry and tissue dissection. Non-fasted and fasting-induced food intake was determined, and glucose and insulin tolerance tests were performed. Twenty-four-hour energy expenditure and physical activity were assessed by indirect calorimetry. Results: Adult-onset deletion of Snord116 led to reduced food intake and increased adiposity, albeit with no concomitant change in BW or lean mass compared to controls. Adult onset Snord116 deletion was also associated with worsened glucose tolerance and insulin sensitivity. Conclusions: This study identified a key role for Snord116 in feeding behaviour and growth. Further, it is likely that the effects of this gene are modulated by developmental stage, as mice with adult-onset deletion showed an opposite phenotype, with respect to food intake and body composition, to previously published data on mice with germline deletion.

Chronic kidney disease and sports participation by children and adolescents.

Abstract: Individuals suffering from chronic kidney disease (CKD) deal with major morbidity and mortality including poor exercise tolerance. A variety of factors including anemia, poor muscle mass, cardiovascular changes and limited physical activity contribute to exercise intolerance. Studies suggest that early initiation of aerobic and resistance training improves the muscle function, ability to tolerate exercise and quality of life in CKD patients. A thorough medical examination and exercise testing are recommended before initiating an exercise regimen in individuals with CKD. Though current recommendations suggest a qualified approval to contact sports in patients with solitary kidney, a proper risk assessment and counselling must be provided detailing all the risks involved. Special care must be taken to avoid infection or damage to the peritoneal dialysis catheter and hemodialysis vascular access sites. Collision sports should be avoided in individuals with kidney transplant, ectopic kidney or with other urological abnormalities (severe hydronephrosis or ureteropelvic junction obstruction) with high risk of injury.

A case of Raoultella planticola causing a urinary tract infection in a pediatric patient.

Abstract: Raoultella planticola ( R. planticola ) is an abundant environmental bacterium that rarely infects humans. There is only one known case of R. planticola causing a urinary tract infection (UTI) in a pediatric patient. This is a second case of R. planticola potentially causing a symptomatic UTI in a 2-month-old female child with no known medical problems.