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https://www.readbyqxmd.com/read/25846317/noonan-syndrome-like-disorder-with-loose-anagen-hair-a-second-case-with-neuroblastoma
#1
Livia Garavelli, Viviana Cordeddu, Stefania Errico, Patrizia Bertolini, Maria Elisabeth Street, Simonetta Rosato, Marzia Pollazzon, Anita Wischmeijer, Ivan Ivanovski, Paola Daniele, Ermanno Bacchini, Alfonsa Anna Lombardi, Giancarlo Izzi, Giacomo Biasucci, Carmine Del Rossi, Domenico Corradi, Giovanni Cazzaniga, Carlo Dominici, Cesare Rossi, Alessandro De Luca, Sergio Bernasconi, Riccardo Riccardi, Eric Legius, Marco Tartaglia
Noonan-like syndrome with loose anagen hair (NSLH), also known as Mazzanti syndrome, is a RASopathy characterized by craniofacial features resembling Noonan syndrome, cardiac defects, cognitive deficits and behavioral issues, reduced growth generally associated with GH deficit, darkly pigmented skin, and an unique combination of ectodermal anomalies. Virtually all cases of NSLH are caused by an invariant and functionally unique mutation in SHOC2 (c.4A>G, p.Ser2Gly). Here, we report on a child with molecularly confirmed NSLH who developed a neuroblastoma, first suspected at the age 3 months by abdominal ultrasound examination...
August 2015: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/25153217/initiation-of-growth-hormone-therapy-in-idiopathic-short-stature-do-gender-differences-exist
#2
Tal Ben-Ari, Yael Lebenthal, Moshe Phillip, Liora Lazar
BACKGROUND/AIMS: Growth hormone (GH) registries indicate that boys receive preferential GH treatment for idiopathic short stature (ISS). The aim was to determine whether age, auxological parameters, pubertal status, and target height differ between genders at GH initiation. METHODS: Review of the computerized files of the endocrine department of a tertiary pediatric medical center identified 184 patients who started GH therapy for ISS between 2003-2011. Data on auxologic parameters, predicted height, parental height, and pubertal status were collected and compared between boys and girls...
January 2015: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/23939920/monocentric-study-of-112-consecutive-patients-with-childhood-onset-gh-deficiency-around-and-after-transition
#3
Carine Courtillot, Roselyne Baudoin, Tatiana Du Souich, Lucile Saatdjian, Isabelle Tejedor, Graziella Pinto, Juliane Léger, Michel Polak, Jean-Louis Golmard, Philippe Touraine
OBJECTIVES: Our aim was to analyze a large cohort of childhood onset GH deficiency (CO-GHD) adults from a unique adult center, in order to analyze their clinical management and to study the metabolic and bone status in relation to GHD and to the other pituitary deficits, and to evaluate these parameters during the long-term follow-up. DESIGN AND METHODS: Observational retrospective cohort study on 112 consecutive CO-GHD adults transferred to our unit from 1st January 1994 to 1st March 2012...
November 2013: European Journal of Endocrinology
https://www.readbyqxmd.com/read/22981294/growth-retardation-and-reduced-growth-hormone-secretion-in-cystic-fibrosis-clinical-observations-from-three-cf-centers
#4
MULTICENTER STUDY
D'Orazio Ciro, Rita Padoan, Hannah Blau, Anna Marostica, Maurizio Fuoti, Sonia Volpi, Alba Pilotta, Joseph Meyerovitch, Daniel Sher, Baroukh M Assael
OBJECTIVE: Growth delay in cystic fibrosis is frequent and is usually the result of several interacting causes. It most often derives from severe respiratory impairment and severe malabsorption. There are however patients whose clinical condition is not severe enough to be held accountable for this phenomenon. We aimed at describing patients who showed growth delay, who were not affected by severe pulmonary disease or malabsorption and who, when tested, showed a reduced GH secretion after stimulation with conventional agents...
March 2013: Journal of Cystic Fibrosis: Official Journal of the European Cystic Fibrosis Society
https://www.readbyqxmd.com/read/21995042/computing-the-shape-of-brain-networks-using-graph-filtration-and-gromov-hausdorff-metric
#5
Hyekyoung Lee, Moo K Chung, Hyejin Kang, Boong-Nyun Kim, Dong Soo Lee
The difference between networks has been often assessed by the difference of global topological measures such as the clustering coefficient, degree distribution and modularity. In this paper, we introduce a new framework for measuring the network difference using the Gromov-Hausdorff (GH) distance, which is often used in shape analysis. In order to apply the GH distance, we define the shape of the brain network by piecing together the patches of locally connected nearest neighbors using the graph filtration...
2011: Medical Image Computing and Computer-assisted Intervention: MICCAI ..
https://www.readbyqxmd.com/read/21900782/the-role-of-growth-hormone-and-insulin-like-growth-factor-1-in-crohn-s-disease-implications-for-therapeutic-use-of-human-growth-hormone-in-pediatric-patients
#6
REVIEW
Eugene Vortia, Marsha Kay, Robert Wyllie
PURPOSE OF REVIEW: This review evaluates the role of the growth hormone (GH) and insulin-like growth factor (IGF) in influencing linear growth in pediatric Crohn's disease. It also examines the current evidence concerning the use of recombinant human growth hormone (rhGH) as a potential therapy in achieving optimal growth and inducing mucosal healing for pediatric Crohn's disease. RECENT FINDINGS: Current treatment strategies for Crohn's disease including antitumor necrosis factor-α (TNF-α) therapy have been demonstrated to improve growth velocity, but linear growth deficits persist despite optimization of therapy...
October 2011: Current Opinion in Pediatrics
https://www.readbyqxmd.com/read/20424424/growth-hormone-treatment-does-not-affect-incidences-of-middle-ear-disease-or-hearing-loss-in-infants-and-toddlers-with-turner-syndrome
#7
RANDOMIZED CONTROLLED TRIAL
Marsha L Davenport, Jackson Roush, Chunhua Liu, Anthony J Zagar, Erica Eugster, Sharon Travers, Patricia Y Fechner, Charmian A Quigley
CONTEXT: No randomized, controlled, prospective study has evaluated the effect of growth hormone (GH) on the rates of middle ear (ME) disease and hearing loss in girls with Turner syndrome (TS). DESIGN: A 2-year, prospective, randomized, controlled, open-label, multicenter, clinical trial ('Toddler Turner Study'; August 1999 to August 2003) was carried out. SETTING: The study was conducted at 11 US pediatric endocrine centers. SUBJECTS: Eighty-eight girls with TS, aged 9 months to 4 years, were enrolled...
2010: Hormone Research in Pædiatrics
https://www.readbyqxmd.com/read/19581535/late-effects-of-conformal-radiation-therapy-for-pediatric-patients-with-low-grade-glioma-prospective-evaluation-of-cognitive-endocrine-and-hearing-deficits
#8
Thomas E Merchant, Heather M Conklin, Shengjie Wu, Robert H Lustig, Xiaoping Xiong
PURPOSE: We conducted a prospective trial to evaluate late effects in pediatric patients with low-grade glioma (LGG) treated with conformal radiation therapy (CRT). PATIENTS AND METHODS: Between August 1997 and August 2006, 78 pediatric patients with LGG (mean age, 9.7 years; standard deviation, +/-4.4 years) received 54 Gy of CRT with a 10-mm clinical target volume margin. Tumor locations were diencephalon (n = 58), cerebral hemisphere (n = 3), and cerebellum (n = 17)...
August 1, 2009: Journal of Clinical Oncology: Official Journal of the American Society of Clinical Oncology
https://www.readbyqxmd.com/read/18552751/zinc-nutrition-and-growth-retardation
#9
REVIEW
Conrad R Cole, Fima Lifshitz
Human growth retardation from zinc deficiency was first reported over 40 years ago. More recently marginal zinc deficiency was shown to occur during pregnancy and infancy, and to be prevalent in children throughout the world. Zinc with or without macronutrients and other micronutrient deficits may also occur in patients with gastrointestinal disease. Particular attention must be given to the suboptimal intake of zinc which results in growth retardation. The single most important cause of nutritional growth retardation (NGR) worldwide is poverty related malnutrition involving multiple macro-and-micro nutrient deficits...
June 2008: Pediatric Endocrinology Reviews: PER
https://www.readbyqxmd.com/read/16483176/hypopituitarism-induced-by-traumatic-brain-injury-in-the-transition-phase
#10
COMPARATIVE STUDY
G Aimaretti, M R Ambrosio, C Di Somma, M Gasperi, S Cannavò, C Scaroni, L De Marinis, R Baldelli, G Bona, G Giordano, E Ghigo
Traumatic brain injury (TBI) has been associated with hypopituitarism in general and GH deficiency (GHD) in particular; the consequences of this on growth and development are likely to be critical in children and adolescents in the so-called "transition phase". In order to verify the consequences of TBI on pituitary function in the transition phase, we studied a population of adolescents and young adults 3 and 12 months after brain injury [no. = 23, 9 females, 14 males; age: 16-25 yr; body mass index (BMI): 21...
December 2005: Journal of Endocrinological Investigation
https://www.readbyqxmd.com/read/15520087/health-related-quality-of-life-in-children-and-adolescents-who-have-a-diagnosis-of-attention-deficit-hyperactivity-disorder
#11
Anne F Klassen, Anton Miller, Stuart Fine
OBJECTIVE: The aim of treatment for attention-deficit/hyperactivity disorder (ADHD) is to decrease symptoms, enhance functionality, and improve well-being for the child and his or her close contacts. However, the measurement of treatment response is often limited to measuring symptoms using behavior rating scales and checklists completed by teachers and parents. Because so much of the focus has been on symptom reduction, less is known about other possible health problems, which can be measured easily using health-related quality-of-life (HRQL) questionnaires, which are designed to gather information across a range of health domains...
November 2004: Pediatrics
https://www.readbyqxmd.com/read/15134312/child-onset-growth-hormone-deficiency-in-adulthood-transfer-of-patients-from-pediatric-to-adult-endocrinology-units
#12
REVIEW
R Albero, P Trincado, A Sanz, J Playán, J Acha
Treatment with growth hormone (GH) in adult-onset GH deficiency (AO-GHD) reverses its many metabolic alterations, modifying body composition, bone mass, several cardiovascular risk factors, and improving quality of life. In adult patients with a previous diagnosis of child-onset GH deficiency (CO-GHD), the lack of treatment also produces similar alterations, reversed by GH treatment. In patients with multiple pituitary hormone deficiency, the lack of GH is considered definitive, but in isolated GHD, the need for re-evaluation of the deficit is mandatory...
March 2004: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/11238506/characterization-of-nocturnal-ultradian-rhythms-of-melatonin-in-children-with-growth-hormone-dependent-and-independent-growth-delay
#13
COMPARATIVE STUDY
A Muñoz-Hoyos, R Jaldo, A Molina-Carballo, G Escames, M Macías, J M Fernández-Garcia, R J Reiter, D Acuña-Castroviejo
To assess the existence of a possible nocturnal ultradian rhythm of melatonin in children, we analyzed 28 pediatric patients (mean age, 9.08 +/- 2.2 yr) with GH-dependent and GH-independent growth delay. Plasma melatonin was measured by RIA in children sampled every 30 min between 2100-0900 h. Statistical analysis consisted of cluster analysis to examine the presence of peaks and troughs. The pattern of melatonin levels was related to the cause of growth delay, although the means of the nocturnal concentrations of melatonin were similar in all children...
March 2001: Journal of Clinical Endocrinology and Metabolism
https://www.readbyqxmd.com/read/9658419/-long-term-effects-of-combined-therapy-in-patients-with-beta-thalassemia-major
#14
S Bagnulo, A M Giannini, F Moscatelli, L Stragapede, A Acquafredda, A Dammacco
We evaluated therapy complications in 19 beta-thalassemia major patients (mean age from 3 years/5 months and 1 years/6 months) who were followed at II Pediatric Department-University of Bari. 3 out of 19 patients underwent allogenic BMT from matched related donor; 2 out of 19 underwent splenectomy. All of them were receiving hypertransfusion therapy and continuous chelation with DFO. In all patients we performed physical examination, laboratory assays, cardiac and endocrinologic function tests, serum HBV-HCV-HIV antibodies, otoscopy and audiometric test, fundus oculi, skeletal x-ray...
January 1998: La Pediatria Medica e Chirurgica: Medical and Surgical Pediatrics
https://www.readbyqxmd.com/read/8283258/pituitary-adenomas-in-childhood-and-adolescence-results-of-transsphenoidal-surgery
#15
M D Partington, D H Davis, E R Laws, B W Scheithauer
Pituitary adenomas are uncommon in childhood. Between 1975 and 1988, 36 patients underwent transsphenoidal resection at the Mayo Clinic before their 17th birthday. Fifteen (41.7%) had prolactin (PRL)-secreting tumors, 16 (44.4%) had adrenocorticotropic hormone (ACTH)-secreting tumors (including two patients with Nelson-Salassa syndrome), and three (8.3%) had tumors secreting growth hormone (GH); two patients (5.6%) had clinically nonfunctioning tumors. Of the 36 patients, 21 (58.3%) were girls, and girls predominated in every group except that with ACTH-secreting tumors, where they accounted for only 37...
February 1994: Journal of Neurosurgery
https://www.readbyqxmd.com/read/7874799/the-role-of-spect-imaging-in-pediatric-renal-transplants
#16
E E Yeo, J H Miller
Post-transplant hypertension can be a diagnostic dilemma. In a select population of pediatric patients, in whom other diagnostic methods failed to reveal an abnormality, renal cortical SPECT imaging, using either Tc-99m GH or Tc-99m DMSA, revealed information that was not apparent on conventional planar renal scintigraphy. Abnormalities detected by this methodology included unsuspected renal infarct and areas of segmental perfusion deficit. The authors conclude that this methodology is a valuable tool in the evaluation of post renal transplantation hypertension in pediatric patients...
December 1994: Clinical Nuclear Medicine
https://www.readbyqxmd.com/read/1528795/-clinical-and-diagnostic-approach-to-children-of-low-stature-evaluation-of-a-24-month-hgh-treatment-of-patients-with-growth-impairment-of-diverse-etiopathogenesis
#17
COMPARATIVE STUDY
L Azzaroli, A Zucchini, R Manfredi, F Demaria, G Manfredi
Growth retardation represents a frequent reason of consultation of Clinical Centers interested in Pediatric Endocrinology. Short stature is a problem especially considered by patients and their families, either because of fear of organic pathologies possibly underlying growth retardation, or because of psychological implications, frequently related to growth retardation and short stature. The Authors describe their clinical and diagnostic approach to short stature; general data from 302 patients followed and treated for growth delay are presented...
May 1992: La Pediatria Medica e Chirurgica: Medical and Surgical Pediatrics
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