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Pediatric Endocrinology Reviews: PER

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https://www.readbyqxmd.com/read/27491218/therapy-development-for-the-lysosomal-storage-disease-fucosidosis-using-the-canine-animal-model
#1
REVIEW
Jessica L Fletcher, Rosanne M Taylor
Abstract Fucosidosis (OMIM 23000) is an inherited neurodegenerative lysosomal storage disease caused by a deficiency of the lysosomal hydrolase a-L-fucosidase due to mutations in the FUCA1 gene. Without enzyme-targeted therapy patients rarely survive beyond the first decade of life, and therapy options other than supportive care are limited. Hematopoietic transplants, first developed in the fucosidosis dog model, are the only treatment option available capable of delaying the disease course. However, due to the risks and exclusion criteria of this treatment additional therapies are required...
June 2016: Pediatric Endocrinology Reviews: PER
https://www.readbyqxmd.com/read/27491217/insights-into-the-pathogenesis-and-treatment-of-krabbe-disease
#2
REVIEW
Ernesto Roque Bongarzone, Maria Luisa Escolar, Steven James Gray, Tal Kafri, Charles Herman Vite, Mark Steven Sands
Krabbe disease (globoid cell leukodystrophy, GLD) is an inherited disease caused by a deficiency in the lysosomal enzyme galactocerebrosidase (GALC). The major galactosylated lipid degraded by GALC is galactosylceramide. However, GALC is also responsible for the degradation of galactosylsphingosine (psychosine), a highly cytotoxic glycolipid. It has been hypothesized that GALC-deficiency leads to psychosine accumulation that preferentially kills oligodendrocytes in the central nervous system and Schwann cells in the peripheral nervous system...
June 2016: Pediatric Endocrinology Reviews: PER
https://www.readbyqxmd.com/read/27491216/cln2-disease-classic-late-infantile-neuronal-ceroid-lipofuscinosis
#3
REVIEW
Alfried Kohlschütter, Angela Schulz
CLN2 disease is an inherited metabolic storage disorder caused by the deficiency of the lysosomal enzyme tripeptidyl peptidase 1 (TPP1). The disease affects mainly the brain and the retina and is characterized by progressive dysfunction of the central nervous system, leading to dementia, epilepsy, loss of motor function and blindness. The classical late infantile type begins at around three years of age with epilepsy and/or a standstill of psychomotor development, followed by a rapid loss of all abilities and death in childhood...
June 2016: Pediatric Endocrinology Reviews: PER
https://www.readbyqxmd.com/read/27491215/types-a-and-b-niemann-pick-disease
#4
REVIEW
Edward H Schuchman, Melissa P Wasserstein
Two distinct metabolic abnormalities are included under the eponym Niemann-Pick disease (NPD). The first is due to the deficient activity of the enzyme acid sphingomyelinase (ASM). Patients with ASM deficiency are classified as having types A and B Niemann-Pick disease (NPD). Type A NPD patients exhibit hepatosplenomegaly, frequent pulmonary infections, and profound central nervous system involvement in infancy. They rarely survive beyond two years of age. Type B patients also have hepatosplenomegaly and progressive alterations of their lungs, but there are usually no central nervous system signs...
June 2016: Pediatric Endocrinology Reviews: PER
https://www.readbyqxmd.com/read/27491214/the-gm1-and-gm2-gangliosidoses-natural-history-and-progress-toward-therapy
#5
REVIEW
Debra S Regier, Richard L Proia, Alessandra D'Azzo, Cynthia J Tifft
The gangliosidoses are lysosomal storage disorders caused by accumulation of GM1 or GM2 gangliosides. GM1 gangliosidosis has both central nervous system and systemic findings; while, GM2 gangliosidosis is restricted primarily to the central nervous system. Both disorders have autosomal recessive modes of inheritance and a continuum of clinical presentations from a severe infantile form to a milder, chronic adult form. Both are devastating diseases without cure or specific treatment however, with the use of supportive aggressive medical management, the lifespan and quality of life has been extended for both diseases...
June 2016: Pediatric Endocrinology Reviews: PER
https://www.readbyqxmd.com/read/27491213/juvenile-ncl-cln3-disease-emerging-disease-modifying-therapeutic-strategies
#6
REVIEW
Erika F Augustine, Jonathan W Mink
Abstract Juvenile Neuronal Ceroid Lipofuscinosis is a lysosomal storage disease characterized pathologically by intracellular accumulation of autofluorescent storage material and neurodegeneration. Caused by mutations in the CLN3 gene on chromosome 16p12, the precise functions of the encoded protein remain unclear. Yet, recent preclinical discovery has established new therapeutic targets in development, including immunosuppressants, anti-inflammatories, and gene replacement therapies. Development of robust clinical trial endpoints appropriate for this poly-symptomatic disease, clinical trial design optimized for small samples, and adequate and efficient participant recruitment are challenges that lay ahead...
June 2016: Pediatric Endocrinology Reviews: PER
https://www.readbyqxmd.com/read/27491212/prevention-is-the-best-therapy-the-geneticist-s-approach
#7
Gheona Altarescu
Abstract During the last two decades prenatal genetic screening and diagnosis has become the cornerstone of medical care for family planning to prevent genetic disease. Carrier screening programs for genetic disorders that are prevalent in various populations identify couples and pregnancies at risk of having an affected child. These couples can proceed with a choice of invasive prenatal diagnosis tests of the fetus (chorionic villous sampling and amniocentesis), or non-invasive prenatal testing of free fetal DNA circulation in the maternal blood which has emerged within the last few years and is currently available for fetal sexing for X Linked disorders...
June 2016: Pediatric Endocrinology Reviews: PER
https://www.readbyqxmd.com/read/27491211/combination-therapies-for-lysosomal-storage-diseases-a-complex-answer-to-a-simple-problem
#8
REVIEW
Shannon L Macauley
Abstract Lysosomal storage diseases (LSDs) are a group of 40-50 rare monogenic disorders that result in disrupted lysosomal function and subsequent lysosomal pathology. Depending on the protein or enzyme deficiency associated with each disease, LSDs affect an array of organ systems and elicit a complex set of secondary disease mechanisms that make many of these disorders difficult to fully treat. The etiology of most LSDs is known and the innate biology of lysosomal enzymes favors therapeutic intervention, yet most attempts at treating LSDs with enzyme replacement strategies fall short of being curative...
June 2016: Pediatric Endocrinology Reviews: PER
https://www.readbyqxmd.com/read/27491210/brain-targeting-in-mps-iiia
#9
REVIEW
Nicolina Cristina Sorrentino, Alessandro Fraldi
Mucopolysaccharidosis type IIIA (MPS-IIIA) is a childhood metabolic neuropathology caused by the inherited deficiency of the lysosomal enzyme sulfamidase and is characterized by the accumulation of undegraded glycosaminoglycans in the lysosomes of cells and tissues of affected patients. MPS-IIIA represents one of the most common forms of lysosomal storage disorders (LSDs) and to date there is no cure. Since neurodegeneration is the most relevant pathological feature in MPS-IIIA patients, the treatment of the central nervous system (CNS) lesions represents the goal of any effective therapy for this devastating disorder...
June 2016: Pediatric Endocrinology Reviews: PER
https://www.readbyqxmd.com/read/27491209/overcoming-the-next-barriers-to-successful-therapy
#10
Ian J Cohen, Hagit Baris, Pramod Kumar Mistry, Mark S Sands
No abstract text is available yet for this article.
June 2016: Pediatric Endocrinology Reviews: PER
https://www.readbyqxmd.com/read/27464419/stunted-growth-proceedings-of-the-23rd-aschauer-soiree-held-at-aschauhof-germany-november-7th-2015
#11
Michael Hermanussen, Josefin Ipsen, Rebekka Mumm, Christian Assmann, Julia Quitmann, Aleksandra Gomula, Andreas Lehmann, Isabelle Jasch, Vincent Tassenaar, Barry Bogin, Takashi Satake, Christiane Scheffler, Javier Núñez, Elena Godina, Rüdiger Hardeland, Jesper Boldsen, Mortada El-Shabrawi, Mona Elhusseini, Carmen Gabriela Barbu, Ralucca Pop, Jani Söderhäll, Andrea Merker, James Swanson, Detlef Groth
Twenty-four scientists met at Aschauhof, Altenhof, Germany, to discuss the associations between child growth and development, and nutrition, health, environment and psychology. Meta-analyses of body height, height variability and household inequality, in historic and modern growth studies published since 1794, highlighting the enormously flexible patterns of child and adolescent height and weight increments throughout history which do not only depend on genetics, prenatal development, nutrition, health, and economic circumstances, but reflect social interactions...
June 2016: Pediatric Endocrinology Reviews: PER
https://www.readbyqxmd.com/read/27464418/lhx4-gene-alterations-patient-report-and-review-of-the-literature
#12
REVIEW
Zoran Gucev, Velibor Tasic, Dijana Plaseska-Karanfilska, Marina Krstevska Konstantinova, Ana Stamatova, Marija Dimishkovska, Nevenka Laban, Momir Polenakovic
LHX4 mutations are rare in combined pituitary hormone deficiency, and even rarer in isolated GHD. We describe a 14 years old boy who was referred for investigation of short stature. Convergent strabismus, nystagmus was present. At the age of 5 years his gait was unstable. A progressive myopathy ensued. Tests of pituitary reserve showed partial IGHD (8.2 ng/ml). Other pituitary hormones were within normal range. Muscle biopsy showed congenital myopathy of undefined etiology. MRI of the brain revealed the empty sella syndrome...
June 2016: Pediatric Endocrinology Reviews: PER
https://www.readbyqxmd.com/read/27464417/polymorphism-of-the-igf-i-system-and-sports-performance
#13
REVIEW
Sigal Ben-Zaken, Yoav Meckel, Dan Nemet, Nitzan Dror, Alon Eliakim
The potential use genetic polymorphism, and in particularly polymorphism of hormone genes, as tool to predict athletic performance is currently very challenging. Recent studies suggest that single nucleotide polymorphisms in IGF-I and myostatin may be beneficial for endurance and short distance running, and may even be associated with elite performance. Polymorphism in IGF-I receptor may differentiate between the two edges of the endurance-power athletic performance running spectrum suggesting beneficial effects for endurance and prevent from success in power events...
June 2016: Pediatric Endocrinology Reviews: PER
https://www.readbyqxmd.com/read/27464416/persistent-m%C3%A3-llerian-duct-syndrome-caused-by-a-novel-mutation-of-an-anti-m%C3%A3-ilerian-hormone-receptor-gene-case-presentation-and-literature-review
#14
REVIEW
Ghadir Elias-Assad, Marwan Elias, Hannah Kanety, Asher Pressman, Yardena Tenenbaum-Rakover
Persistent Müllerian duct syndrome (PMDS) is a rare genetic disorder of male internal sexual development defined as lack of regression of Müllerian derivatives in the 46XY male with normally virilized external genitalia and unilateral or bilateral cryptorchidism. Approximately 85% of all cases are caused by mutations in genes encoding anti-Müllerian hormone (AMH) or its receptor (AMHR2) with autosomal recessive transmission. This condition is frequently diagnosed incidentally, during surgical repair of inguinal hernia or cryptorchidism...
June 2016: Pediatric Endocrinology Reviews: PER
https://www.readbyqxmd.com/read/27464415/role-of-nuclear-factor-kappa-b-nf-%C3%AE%C2%BAb-in-growth-plate-chondrogenesis
#15
REVIEW
Francesco De Luca
Abstract Nuclear Factor kappa B (NF-κB) is a group of seven transcription factors. Upon activation by a variety of stimuli, NF-κB translocates to the nucleus and modulates the expression of target genes involved in cell growth, survival, and death. Previous evidence indicates that NF-κB regulates bone growth and development. We have shown that the NF-κB p65 is expressed in the growth plate and facilitates longitudinal bone growth by inducing chondrocyte proliferation and differentiation and by preventing apoptosis...
June 2016: Pediatric Endocrinology Reviews: PER
https://www.readbyqxmd.com/read/27464414/finding-a-needle-in-a-haystack-the-advantages-of-liquid-chromatography-tandem-mass-spectrometry-lc-ms-ms-in-determination-of-sex-hormones-in-children
#16
REVIEW
Shira Hirsh, Anat Ben-Dor
Determination of steroid sex hormones concentrations in children is very important for diagnosis of a wide range of pubertal, adrenal and sex development disorders. The majority of hormone measurements are carried out using traditional immunoassays, due to their technical simplicity, cost and availability of commercial reagents. But, due to limited specificity and sensitivity, traditional immunoassays often fail to determine low concentration analytes such as sex hormones in pediatric blood. In the last decade, the LC-MS/MS assay has risen as a new player in the analytic diagnostic field...
June 2016: Pediatric Endocrinology Reviews: PER
https://www.readbyqxmd.com/read/27464413/primus-eugen-mullis-md-1954-2016
#17
Mehul Dattani, Annina Mullis, Christa E Flück
No abstract text is available yet for this article.
June 2016: Pediatric Endocrinology Reviews: PER
https://www.readbyqxmd.com/read/27116848/thyroid-hemiagenesis-from-childhood-to-adulthood-review-of-literature-and-personal-experience
#18
REVIEW
Vincenzo De Sanctis, Ashraf T Soliman, Salvatore Di Maio, Heba Elsedfy, Nada A Soliman, Rania Elalaily
Thyroid hemiagenesis (TH) is a rare congenital abnormality of the thyroid gland, characterised by the absence of one lobe. The true prevalence of this congenital abnormality is not known because the absence of one thyroid lobe usually does not cause clinical symptoms by itself. Between 1970 and 2010, 329 cases of TH have been reported. It is interesting to note that most cases have an agenesis of the left lobe (80% of cases) followed by the isthmus (44-50% of cases). Although the female to male ratio was 1:1...
March 2016: Pediatric Endocrinology Reviews: PER
https://www.readbyqxmd.com/read/27116847/salivary-biomarkers-in-pediatric-metabolic-disease-research
#19
REVIEW
Mor-Li Hartman, J Max Goodson, Roula Barake, Osama Alsmadi, Sabiha Al-Mutawa, Jitendra Ariga, Pramod Soparkar, Jawad Behbehani, Kazem Behbehani
The increasing prevalence of childhood obesity and obesity-related metabolic disorders is now considered a global pandemic. The main goal of the pediatric obesity research community is to identify children who are at risk of becoming obese before their body mass index rises above age norms. To do so, we must identify biomarkers of metabolic health and immunometabolism that can be used for large-scale screening and diagnosis initiatives among at-risk children. Because blood sampling is often unacceptable to both parents and children when there is no direct benefit to the child, as in a community-based research study, there is a clear need for a low-risk, non-invasive sampling strategy...
March 2016: Pediatric Endocrinology Reviews: PER
https://www.readbyqxmd.com/read/27116846/evidence-based-management-of-patients-with-45-x-46-xy-gonadal-dysgenesis-and-male-sex-assignment-from-infancy-to-adulthood
#20
REVIEW
Johanna Viau Colindres, Marni Axelrad, Laurence McCullough, E O'Brian Smith, Gene O Huang, Duong D Tu, Jennifer L Bercaw-Pratt, Min-Jye Cheni, Meenal Mendiratta, Sheila Gunn, Reid Sutton, Charles Macias, Lefkothea P Karaviti
45,X/46,XY gonadal dysgenesis is a disorder of sexual differentiation with a wide clinical presentation, ranging from Turner-like females to individuals with genital ambiguity to azoospermic but otherwise normal-appearing males. Hence, patients can be assigned female or male sex. Female patients are managed according to the Turner Syndrome Guidelines, whereas males are managed on a case-by-case basis. Male patients present with multiple medical challenges: undervirilization, hypogonadism, gonadoblastoma risk, and short stature...
March 2016: Pediatric Endocrinology Reviews: PER
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