Medicine and Health Sciences Commons^™

Yap And The Hippo Pathway In Pediatric Cancer., Atif Ahmed, Abdalla D. Mohamed, Melissa Gener, Weijie Li, Eugenio Taboada

Manuscripts, Articles, Book Chapters and Other Papers

The Hippo pathway is an important signaling pathway that controls cell proliferation and apoptosis. It is evolutionarily conserved in mammals and is stimulated by cell-cell contact, inhibiting cell proliferation in response to increased cell density. During early embryonic development, the Hippo signaling pathway regulates organ development and size, and its functions result in the coordinated balance between proliferation, apoptosis, and differentiation. Its principal effectors, YAP and TAZ, regulate signaling by the embryonic stem cells and determine cell fate and histogenesis. Dysfunction of this pathway contributes to cancer development in adults and children. Emerging studies have shed light on the upregulation …

Role Of Fgf23 In Pediatric Hypercalciuria., Maria Goretti Moreira Guimarães Penido, Marcelo De Sousa Tavares, Uri S. Alon

Manuscripts, Articles, Book Chapters and Other Papers

Background: This study explored the possible role of FGF23 in pediatric hypercalciuria.

Methods: Plasma FGF23 was measured in 29 controls and 58 children and adolescents with hypercalciuria: 24 before treatment (Pre-Treated) and 34 after 6 months of treatment (Treated). Hypercalciuric patients also measured serum PTH hormone, 25(OH)vitD, phosphate, calcium, creatinine, and 24 h urine calcium, phosphate, and creatinine.

Results: There were no differences in age, gender, ethnicity, or body mass index either between controls and patients, or between Pre-Treated and Treated patients. Median plasma FGF23 in controls was 72 compared with all patients, 58 RU/mL (p = 0.0019). However, …

Components Of Effective Cognitive-Behavioral Therapy For Pediatric Headache: A Mixed Methods Approach., Emily F. Law, Sarah E. Beals-Erickson, Emma Fisher, Emily A. Lang, Tonya M. Palermo

Manuscripts, Articles, Book Chapters and Other Papers

Internet-delivered treatment has the potential to expand access to evidence-based cognitive-behavioral therapy (CBT) for pediatric headache, and has demonstrated efficacy in small trials for some youth with headache. We used a mixed methods approach to identify effective components of CBT for this population. In Study 1, component profile analysis identified common interventions delivered in published RCTs of effective CBT protocols for pediatric headache delivered face-to-face or via the Internet. We identified a core set of three treatment components that were common across face-to-face and Internet protocols: 1) headache education, 2) relaxation training, and 3) cognitive interventions. Biofeedback was identified as …

A Singleton Infant With Bilateral Renal Agenesis And Normal Pulmonary Function., Lovya George, Winston M. Manimtim, Jotishna Sharma

Manuscripts, Articles, Book Chapters and Other Papers

Bilateral renal agenesis leads to anhydramnios and other sequelae including pulmonary hypoplasia. There have been rare case reports of normal pulmonary function in the presence of bilateral renal agenesis in monoamniotic discordant twins, but this has never been reported in a singleton pregnancy. The few reported cases in twins have all been fatal in the neonatal period with no reported cases of survival beyond 2 months. We describe the first case of a singleton infant with bilateral renal agenesis who had normal pulmonary function and did well on peritoneal dialysis for 4 years while awaiting a renal transplant.

Multiple Targets For Novel Therapy Of Fsgs Associated With Circulating Permeability Factor., Virginia J. Savin, Mukut Sharma, Jianping Zhou, David Genochi, Ram Sharma, Tarak Srivastava, Amna Ilahe, Pooja Budhiraja, Aditi Gupta, Ellen T. Mccarthy

Manuscripts, Articles, Book Chapters and Other Papers

A plasma component is responsible for altered glomerular permeability in patients with focal segmental glomerulosclerosis. Evidence includes recurrence after renal transplantation, remission after plasmapheresis, proteinuria in infants of affected mothers, transfer of proteinuria to experimental animals, and impaired glomerular permeability after exposure to patient plasma. Therapy may include decreasing synthesis of the injurious agent, removing or blocking its interaction with cells, or blocking signaling or enhancing cell defenses to restore the permeability barrier and prevent progression. Agents that may prevent the synthesis of the permeability factor include cytotoxic agents or aggressive chemotherapy. Extracorporeal therapies include plasmapheresis, immunoadsorption with protein A …

Bleeding Meckel's Diverticulum In Children: The Diagnostic Value Of Double-Balloon Enteroscopy., Lan-Lan Geng, Pei-Yu Chen, Qiang Wu, Hui-Wen Li, Ding-You Li, Min Yang, Si-Tang Gong

Manuscripts, Articles, Book Chapters and Other Papers

Background. Meckel's diverticulum (MD) is the most common congenital anomaly of the gastrointestinal tract. The purpose of this study was to evaluate the diagnostic value and safety of double-balloon enteroscopy (DBE) for bleeding MD in children. Methods. We included consecutive children who were highly suspected of MD between 2012 and 2013. All patients underwent Meckel's scan. DBE was performed for patient with negative Meckel's scan. An exploratory laparoscopy was performed in children with positive Meckel's scan or DBE. Results. 42 patients met the inclusion criteria. 40 patients were confirmed to have MD by exploratory laparoscopy. Meckel's scan …

Biomechanical Evaluation Of A Growth-Friendly Rod Construct., Sarah Galvis, Josh Arnold, Erin Mannen, Benjamin Wong, Hadley Sis, Eileen Cadel, John Anderson, Dennis Anderson, Paul Arnold, Elizabeth Friis

Manuscripts, Articles, Book Chapters and Other Papers

BACKGROUND: Distraction-type rods mechanically stabilize the thorax and improve lung growth and function by applying distraction forces at the rib, spine, pelvis, or a combination of locations. However, the amount of stability the rods provide and the amount the thorax needs is unknown.

METHODS: Five freshly frozen and thawed cadaveric thoracic spine specimens were tested for lateral bending, flexion/extension, and axial rotation in displacement control (1°/sec) to a load limit of ±5 Nm for five cycles after which a growth-friendly unilateral rod was placed in a simulated rib-to-lumbar attachment along the right side. The specimens were tested again in the …

Ambulatory Blood Pressure, Left Ventricular Hypertrophy, And Allograft Function In Children And Young Adults After Kidney Transplantation., Gilad Hamdani, Edward J. Nehus, Coral D. Hanevold, Judith Sebestyen Van Sickle, Robert Woroniecki, Scott E. Wenderfer, David K. Hooper, Douglas Blowey, Amy Wilson, Bradley A. Warady, Mark M. Mitsnefes

Manuscripts, Articles, Book Chapters and Other Papers

BACKGROUND: Hypertension is a common complication and is an important risk factor for graft loss and adverse cardiovascular outcomes in pediatric kidney transplantation. Ambulatory blood pressure monitoring (ABPM) is the preferred method to characterize blood pressure status.

METHODS: We conducted a retrospective review of a large cohort of children and young adults with kidney transplant to estimate the prevalence of abnormal ambulatory blood pressure (ABP), assess factors associated with abnormal ABP, and examine whether ambulatory hypertension is associated with worse allograft function and left ventricular hypertrophy (LVH).

RESULTS: Two hundred twenty-one patients had ABPM, and 142 patients had echocardiographic results …

International Consensus (Icon) On: Clinical Consequences Of Mite Hypersensitivity, A Global Problem., Mario Sánchez-Borges, Enrique Fernandez-Caldas, Wayne R. Thomas, Martin D. Chapman, Bee Wah Lee, Luis Caraballo, Nathalie Acevedo, Fook Tim Chew, Ignacio J. Ansotegui, Leili Behrooz, Wanda Phipatanakul, Roy Gerth Van Wijk, Demoly Pascal, Nelson Rosario, Motohiro Ebisawa, Mario Geller, Santiago Quirce, Susanne Vrtala, Rudolf Valenta, Markus Ollert, Giorgio Walter Canonica, Moises A. Calderón, Charles S. Barnes, Adnan Custovic, Suwat Benjaponpitak, Arnaldo Capriles-Hulett

Manuscripts, Articles, Book Chapters and Other Papers

Since mite allergens are the most relevant inducers of allergic diseases worldwide, resulting in significant morbidity and increased burden on health services, the International Collaboration in Asthma, Allergy and Immunology (iCAALL), formed by the American Academy of Allergy, Asthma and Immunology (AAAAI), the American College of Allergy, Asthma and Immunology (ACAAI), the European Academy of Allergy and Clinical Immunology (EAACI), and the World Allergy Organization (WAO), has proposed to issue an International Consensus (ICON) on the clinical consequences of mite hypersensitivity. The objectives of this document are to highlight aspects of mite biology that are clinically relevant, to update the …

Immunodeficiency-Associated Lymphoid Hyperplasia As A Cause Of Intussusception In A Case Of Activated Pi3k-Δ Syndrome., Daniel Mettman, Isabelle Thiffault, Chitra Dinakar, Carol J. Saunders

Manuscripts, Articles, Book Chapters and Other Papers

Activated PI3K-δ syndrome refers to a recently described primary immunodeficiency syndrome consisting of recurrent sinopulmonary infections, lymphadenopathy, mucosal lymphoid aggregates, increased susceptibility to Epstein-Barr virus and cytomegalovirus, and increased incidence of B-cell lymphomas. Variants in PIK3CD, which encodes the phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta isoform, enhance membrane association and kinase activity, resulting in increased signal transduction through the PI3K-Akt pathway. Whole-exome sequencing revealed a pathogenic PIK3CD variant in a patient with history of immunologic impairment, recurrent sinopulmonary infections, and lymphoid hyperplasia presenting as intussusception. This case illustrates that while lymphoid hyperplasia secondary to immunodeficiency is most often unsurprising and …