Clinical Efficacy of Zoledronic Acid on Fracture Reduction in Youth with Primary and Secondary Skeletal Fragility.

Context: Prior studies have demonstrated the safety and efficacy of zoledronic acid (ZA) to increase bone mineral density (BMD) in children. By contrast, the efficacy of ZA on fractures in the pediatric population remains uncertain.

Objective: To investigate the effect of ZA on fracture rate in a clinical cohort of children and young adults with skeletal fragility.

Early identification of a 12-bp tandem duplication in TNFRSF11A encoding receptor activator of nuclear factor-kappa B (RANK): Clinical characterization and response to bisphosphonate therapy.

Introduction: Ultra-rare mendelian osteolytic disorders caused by different length in-frame activating duplications within exon 1 of TNFRSF11A encoding receptor activator of nuclear factor-kappa B (RANK) comprise familial expansile osteolysis (FEO), expansile skeletal hyperphosphatasia (ESH), early-onset familial Paget's disease of bone (PDB2), juvenile Paget's disease 2 (JPD2), and panostotic expansile bone disease (PEBD). FEO typically presents with childhood-onset deafness followed by resorption of permanent dentition, and then appendicular bone pain, fractures, and deformities from progressive focal expansile osteolytic lesions emerging from a background of generalized high bone turnover. An 18-bp duplication in TNFRSF11A has been reported in all kindreds with FEO, whereas a 12-bp duplication was found in the young man with PEBD complicated by a massive jaw tumor.

Resolving drug selection and migration in an inbred South American Plasmodium falciparum population with identity-by-descent analysis.

The human malaria parasite Plasmodium falciparum is globally widespread, but its prevalence varies significantly between and even within countries. Most population genetic studies in P. falciparum focus on regions of high transmission where parasite populations are large and genetically diverse, such as sub-Saharan Africa.

A Path FORWARD: Development of a Comprehensive Multidisciplinary Clinic to Create Health and Wellness for the Child and Adolescent with a Fontan Circulation.

Today, it is anticipated most individuals diagnosed with single-ventricle malformation will survive surgical reconstruction through a successful Fontan operation. As greater numbers of patients survive, so has the recognition that individuals with Fontan circulation face a variety of challenges. The goal of a normal quality and duration of life will not be reached by all.

IgG4-related lung disease as a differential diagnosis of a lymphoproliferative disease: atypical presentation of an atypical disease.

IgG4-related disease (IgG4-RD) is an immunomodulated inflammatory disease that usually affects the pancreas and parotid glands. Although lung involvement is rare, it has been recently reported and could mimic various other diagnoses. We present a case of IgG4-RD whose symptoms and images raised the suspicion of a malignant lymphoproliferative lung neoplasm.

Off-on-off-on use of imatinib in three children with fibrodysplasia ossificans progressiva.

The compassionate use of available medications with unproven efficacy is often in conflict with their clinical evaluation in placebo-controlled clinical trials. For ultra-rare diseases where no approved treatments exist, such as fibrodysplasia ossificans progressiva (FOP), routine clinical trial enrollment for available medications may be difficult to achieve. Therefore adaptive methods of evaluation are often desirable.

Growth in Children with a Fontan Circulation.

Objective: To evaluate growth in a population of patients with Fontan circulation.

Study Design: We performed a cross-sectional evaluation of patients followed in our multidisciplinary Fontan clinic from January 2011 through August 2015. We reviewed the historical data, anthropometry, clinical, and laboratory studies and performed bivariate and multivariate analysis of factors associated with height z score.

End-Organ Function and Exercise Performance in Patients With Fontan Circulation: What Characterizes the High Performers?

Background The physiologic hallmarks of the Fontan circulation-chronically elevated central venous pressures and low cardiac output-have significant effects not only on cardiovascular status but also impact other organ systems. Exercise capacity is limited in many and declines with age, accelerating in adolescence, but with wide variability. We explore the relationship between exercise performance and end-organ function in outpatient subjects with a Fontan circulation.

Disease characteristics of MCT8 deficiency: an international, retrospective, multicentre cohort study.

Background: Disordered thyroid hormone transport, due to mutations in the SLC16A2 gene encoding monocarboxylate transporter 8 (MCT8), is characterised by intellectual and motor disability resulting from cerebral hypothyroidism and chronic peripheral thyrotoxicosis. We sought to systematically assess the phenotypic characteristics and natural history of patients with MCT8 deficiency.

Methods: We did an international, multicentre, cohort study, analysing retrospective data from Jan 1, 2003, to Dec 31, 2019, from patients with MCT8 deficiency followed up in 47 hospitals in 22 countries globally.

Spatio-temporal dynamics of Plasmodium falciparum transmission within a spatial unit on the Colombian Pacific Coast.

As malaria control programmes concentrate their efforts towards malaria elimination a better understanding of malaria transmission patterns at fine spatial resolution units becomes necessary. Defining spatial units that consider transmission heterogeneity, human movement and migration will help to set up achievable malaria elimination milestones and guide the creation of efficient operational administrative control units. Using a combination of genetic and epidemiological data we defined a malaria transmission unit as the area contributing 95% of malaria cases diagnosed at the catchment facility located in the town of Guapi in the South Pacific Coast of Colombia.

Single Gland, Ectopic Location: Adenomas are Common Causes of Primary Hyperparathyroidism in Children and Adolescents.

Background: Primary hyperparathyroidism (PHPT) in children and adolescents is uncommon. Data-driven guidelines for management in pediatric patients are limited.

Methods: We performed a retrospective cohort analysis of all patients (1997-2017) with PHPT ≤ 21 years of age who underwent parathyroidectomy at three institutions.

Herpes Simplex Virus Type 1 Enhances Expression of the Synaptic Protein Arc for Its Own Benefit.

Herpes simplex virus type 1 (HSV-1) is a neurotropic virus able to reach the central nervous system (CNS) after primary infection in oronasal mucosa. HSV-1 establishes latency inside neurons due the repression of its gene expression process, which is related to periodic reactivations in response to cellular stress conditions, constituting a risk factor for neurodegenerative diseases such as Alzheimer's disease (AD). The immediate-early gene Arc plays an essential role in neuronal morphology, synaptic plasticity and memory formation.

Fosfomycin trometamol in the prophylaxis of post-kidney transplant urinary tract infection: A controlled, randomized clinical trial.

Background: The aim of this controlled clinical trial was to evaluate the efficacy and safety of fosfomycin trometamol (FOS) in urinary tract infection (UTI) prophylaxis during the first 6 months after renal transplant (RT).

Methods: The intervention group received 3 g of FOS PO every 10 days and trimethoprim-sulfamethoxazole (TMP-SMX, 160/800 mg) three times per week (Group 1), whereas the control group received TMP-SMX (160/800 mg) daily (Group 2). The outcomes were the time until the first UTI (symptomatic infection or asymptomatic bacteriuria (>10  CFU/mL)) and the incidence of UTI during the first 6 months post RT.

Revised consensus statement on the preventive and symptomatic care of patients with leukodystrophies.

Leukodystrophies are a broad class of genetic disorders that result in disruption or destruction of central myelination. Although the mechanisms underlying these disorders are heterogeneous, there are many common symptoms that affect patients irrespective of the genetic diagnosis. The comfort and quality of life of these children is a primary goal that can complement efforts directed at curative therapies.

Hand-Assisted Laparoscopic Nephrectomy for Live Donor Kidney Transplantation.

Introduction: The live donor nephrectomy is an unusual surgical procedure as it is performed on healthy individuals. It is important to make the procedure as safe as possible without compromising the health of the donor and graft function.

Justification: In Mexico during 2014, 2610 kidney transplantations performed, and 1862 grafts were from living donors.

The Effects of Dietary Iron and Capsaicin on Hemoglobin, Blood Glucose, Insulin Tolerance, Cholesterol, and Triglycerides, in Healthy and Diabetic Wistar Rats.

Objective: Our aim was to assess the effects of dietary iron, and the compound capsaicin, on hemoglobin as well as metabolic indicators including blood glucose, cholesterol, triglycerides, insulin, and glucose tolerance.

Materials And Methods: Our animal model was the Wistar rat, fed a chow diet, with or without experimentally induced diabetes. Diabetic males were fed control, low, or high-iron diets, the latter, with or without capsaicin.

Outcomes of minimally invasive parathyroidectomy in pediatric patients with primary hyperparathyroidism owing to parathyroid adenoma: A single institution experience.

Background: Guidelines for treatment of primary hyperparathyroidism (PHPT) in young patients recommend surgery. Outcomes of minimally invasive parathyroidectomy (MIP) are well established in adults, but not in pediatric patients.

Objective: The objective of the study is to determine effectiveness of preoperative imaging and MIP aided by intraoperative PTH (ioPTH) measurement in children with primary hyperparathyroidism (PHPT).

[Effects of gender and socioeconomic status of older people on the execution of the 6 minute walk test].

Background: The six minute walk test (6MWT) is an important physical performance measure used in older people.

Aim: To assess the total distance walked and the physiological cost of the 6MWT in non-disabled older people.

Material And Methods: Fifty six females aged 69 ± 5 years with a body mass index (BMI) of 31 ± 4 kg/m² and sixteen males aged 70 ± 7 years with a BIM of 29 ± 4 kg/m² underwent a 6MWT.

Candida dubliniensis and Candida albicans differentiation by colony morphotype in Sabouraud-triphenyltetrazolium agar.

Background: Candida dubliniensis is a germ tube and chlamydoconidia producing Candida species that may be misidentified as Candida albicans. Molecular-based methods are the most reliable techniques for C. albicans and C.

Teriparatide as a systemic treatment for lower extremity nonunion fractures: a case series.

Objective: To investigate the effect of teriparatide (parathyroid hormone [1-34]) on the healing of long bone nonunion fractures.

Methods: We performed a retrospective chart review of patients with fracture nonunion, aged 10 to 99 years who were treated with teriparatide at the Children's Hospital of Philadelphia or the Hospital of the University of Pennsylvania between November 2002 and January 2013. The primary endpoints were radiographic evidence of callus formation and fracture union, ability to bear weight without affected limb limp, and normal range of motion and strength.

Epidemiology and antifungal susceptibilities of yeasts causing vulvovaginitis in a teaching hospital.

Vulvovaginal candidiasis is one of the most common mycosis. However, the information about antifungal susceptibilities of the yeasts causing this infection is scant. We studied 121 yeasts isolated from 118 patients with vulvovaginal candidiasis.

Effect of chronic administration of forskolin on glycemia and oxidative stress in rats with and without experimental diabetes.

Forskolin is a diterpene derived from the plant Coleus forskohlii. Forskolin activates adenylate cyclase, which increases intracellular cAMP levels. The antioxidant and antiinflammatory action of forskolin is due to inhibition of macrophage activation with a subsequent reduction in thromboxane B2 and superoxide levels.

Seroprevalence of Trypanosoma cruzi in kidney transplant donors and recipients in Mexico City.

Infectious diseases are common causes of morbidity and mortality among kidney transplant recipients. Chagas disease (CD) has been recognized as an emerging infectious complication of transplantation caused by the parasite Trypanosoma cruzi. CD is prevalent in Mexico, particularly in the southern coastal region.