Decifrare la bassa statura nei bambini

2021 ◽  
Vol 40 (3) ◽  
pp. 159-166
Author(s):  
Francesco Chiarelli ◽  
Valeria Castorani ◽  
Nella Polidori
Keyword(s):  
Short Stature ◽  
Therapeutic Agents ◽  
Diagnostic Tools ◽  
Timely Manner ◽  
Poor Growth ◽  
Genetic Causes ◽  
Novel Treatment ◽  
Management Paradigms ◽  
Underlying Pathology

Short stature is the most common cause of referral to paediatricians. Only a minority of children with short stature have an underlying pathology. Although well-established diagnostic and management paradigms do exist, recent advances in molecular technologies have significantly improved our understanding of the genetic causes of short stature. Therefore, after the exclusion of nutritional, hormonal, inflammatory or systemic disorders, or skeletal dysplasias and syndromes, genetic causes should be ever supposed and genetic evaluation considered. An appropriate diagnosis of short stature should be performed as early as possible and personalized treatment should be started in a timely manner. Novel treatment approaches have been also proposed both as diagnostic tools and as therapeutic agents to optimize the approach to short stature. Therefore, detailed characterization of children with poor growth is necessary to perform a tailored diagnostic and therapeutic workup with the aim to decipher the causes of short stature better.

scholarly journals Evaluation of Novel Tools to Facilitate the Detection and Characterization of Leprosy Patients in China

2014 ◽  
Vol 2014 ◽  
pp. 1-7 ◽  
Author(s):  
Yan Wen ◽  
Yuan Gang You ◽  
Lian-Chao Yuan ◽  
You Hua Yuan ◽  
Ying Zhang ◽  
...  
Keyword(s):  
Southwest China ◽  
Control Measures ◽  
Antibody Detection ◽  
Diagnostic Tools ◽  
Timely Manner ◽  
Early Disease ◽  
Clinical Exam ◽  
Leprosy Patients ◽  
Leprosy Control

Leprosy is the disabling outcome of chronic infection withMycobacterium leprae. The disease often evades early detection, particularly now that fewer clinicians are able to confidently diagnose the disease following the integration of leprosy control measures within general health services in many countries. Although leprosy is officially eliminated in China, endemic regions remain in some difficult-to-reach, underdeveloped areas in Southwest China. In order to better understand the extent ofM. lepraeinfection and identify new leprosy cases in a timely manner, simple tools that can detect infection and the early disease are required. In this report we evaluated the performance of antigen-specific ELISA, the NDO-LID rapid diagnostic test, and antigen-specific whole blood assays (WBA) as potential diagnostic tools. Our data support the use of antibody detection tests and WBA to facilitate the diagnosis of multibacillary and paucibacillary leprosy, respectively. These tools could be invaluable for increased, but simplified, monitoring of individuals in order to provide referrals for clinical exam and early leprosy diagnosis.

Epidemiological Characterization of the Infection by Treponema Pallidum in Pregnant Women in Beira City, Sofala, Mozambique

2020 ◽  
Vol 2 (2) ◽  
Author(s):  
Nchowela Guido
Keyword(s):  
Pregnant Women ◽  
Congenital Syphilis ◽  
Health Centre ◽  
Treponema Pallidum ◽  
Timely Manner ◽  
Pregnancy And Childbirth ◽  
Epidemiological Characterization ◽  
Active Syphilis ◽  
Structured Questionnaire

Introduction: Syphilis is one of several diseases that can be transmitted during pregnancy and childbirth, which can lead to complications during pregnancy and in the newborn. This is especially so when the pregnant woman is not diagnosed or treated properly and in a timely manner. Methodology: Data from 262 pregnant women prospectively included, aged 18-41years, attended at the Ponta Gêa Health Centre for antenatal clinics has been analyzed from January to September of 2016. In the prospective study, a rapid treponemal and a non-treponemal test were performed. A structured questionnaire was used to collect socio demographic and clinical variables, which was developed from the literature review. Results: The prevalence of active syphilis was 11.8%; the majority of reactive pregnant women were aged 18-25years (55.4%), (61.3%) of pregnant women were treated with doses below those recommended; only a small number of the partners were treated successfully. The highest seroprevalence of syphilis was found in housewives (77%), in those who attended primary education (71.6%) in those who had a monthly income of 1000- 3000 MZN (70.3%), in those with two or more pregnancies (55.7%) and living with someone has husband and wife (63.5%). The syphilis/HIV co-infection rate was high. Conclusion: According to the results obtained in this study, urgent measures are needed to assess the problems encountered and to improve the screening approach, treatment and monitoring of syphilis during pregnancy in order to prevent the cases of congenital syphilis.

scholarly journals How to deal with low-flow low-gradient aortic stenosis and reduced left ventricle ejection fraction: from literature review to tips for clinical practice

2021 ◽  
Author(s):  
F. Contorni ◽  
M. Fineschi ◽  
A. Iadanza ◽  
A. Santoro ◽  
G. E. Mandoli ◽  
...  
Keyword(s):  
Aortic Valve ◽  
Left Ventricle ◽  
Aortic Stenosis ◽  
Ejection Fraction ◽  
Left Ventricle Ejection Fraction ◽  
Low Flow ◽  
Diagnostic Tools ◽  
Transcatheter Aortic Valve ◽  
Valve Implantation

AbstractLow-flow low-gradient aortic stenosis (LFLG AS) with reduced left ventricle ejection fraction (LVEF) is still a diagnostic and therapeutic challenge. The aim of this paper is to review the latest evidences about the assessment of the valvular disease, usually difficult because of the low-flow status, and the therapeutic options. Special emphasis is given to the available diagnostic tools for the characterization of LFLG AS without functional reserve at stress echocardiography and to the factors that clinicians should evaluate to choose between surgical aortic valve repair, transcatheter aortic valve implantation, or medical therapy.

scholarly journals Development and Characterization of Nanobodies Targeting the Kupffer Cell

2021 ◽  
Vol 12 ◽  
Author(s):  
Fang Zheng ◽  
Jinhong Zhou ◽  
Zhenlin Ouyang ◽  
Jiaxin Zhang ◽  
Xinyi Wang ◽  
...  
Keyword(s):  
Kupffer Cell ◽  
Cell Receptor ◽  
Therapeutic Agents ◽  
Membrane Receptors ◽  
Single Chain ◽  
Single Chain Antibodies ◽  
Functional Investigation ◽  
And Function ◽  
Distinct Features

Nanobodies that are derived from single-chain antibodies of camelids have served as powerful tools in diagnostics, therapeutics and investigation of membrane receptors' structure and function. In this study, we developed a series of nanobodies by a phage display screening building from lymphocytes isolated from an alpaca immunized with recombinant mouse Kupffer cell receptor Clec4F, which is involved in pathogen recognition by binding to galactose and N-acetylgalactosamine. Bio-panning selections retrieved 14 different nanobodies against Clec4F with an affinity ranging from 0.2 to 2 nM as determined by SPR. Those nanobodies mainly recognize 4 different epitopes as analyzed via competitive epitope binning. By analysis of the radioactivity in each organ after injection of 99mTc labeled Clec4F nanobodies in naïve mice, we found that these nanobodies are targeting the liver. Furthermore, we performed a structural characterization at atomic resolution of two of the Clec4F nanobodies from different epitope groups, which revealed distinct features within the CDR2 and CDR3 regions. Taken together, we developed a series of nanobodies targeting multiple distinct recognition epitopes of the Kupffer cell-specific receptor Clec4F which may be useful for its structural and functional investigation as well as for use as molecular imaging and therapeutic agents.

scholarly journals From genomics to the clinic: biological and translational insights of mutant IDH1/2 in glioma

2013 ◽  
Vol 34 (2) ◽  
pp. E2 ◽  
Author(s):  
Gavin P. Dunn ◽  
Ovidiu C. Andronesi ◽  
Daniel P. Cahill
Keyword(s):  
Hypoxia Inducible Factor ◽  
Diagnostic Tools ◽  
Low Grade ◽  
Isocitrate Dehydrogenase 1 ◽  
Treatment Algorithms ◽  
Recurrent Mutations ◽  
Molecular Landscape ◽  
Mutant Idh1 ◽  
And Function

The characterization of the genomic alterations across all human cancers is changing the way that malignant disease is defined and treated. This paradigm is extending to glioma, where the discovery of recurrent mutations in the isocitrate dehydrogenase 1 (IDH1) gene has shed new light on the molecular landscape in glioma and other IDH-mutant cancers. The IDH1 mutations are present in the vast majority of low-grade gliomas and secondary glioblastomas. Rapidly emerging work on the consequences of mutant IDH1 protein expression suggests that its neomorphic enzymatic activity catalyzing the production of the oncometabolite 2-hydroxyglutarate influences a range of cellular programs that affect the epigenome, transcriptional programs, hypoxia-inducible factor biology, and development. In the brief time since its discovery, knowledge of the IDH mutation status has had significant translational implications, and diagnostic tools are being used to monitor its expression and function. The concept of IDH1-mutant versus IDH1-wild type will become a critical early distinction in diagnostic and treatment algorithms.

Growth hormone stimulation testing patterns contribute to sex differences in pediatric growth hormone treatment

2021 ◽  
Author(s):  
Camilia Kamoun ◽  
Colin Patrick Hawkes ◽  
Hareesh Gunturi ◽  
Andrew Dauber ◽  
Joel N. Hirschhorn ◽  
...  
Keyword(s):  
Growth Hormone ◽  
Sex Differences ◽  
Short Stature ◽  
The United States ◽  
Medical Decision ◽  
Z Score ◽  
Growth Data ◽  
Gh Treatment ◽  
Poor Growth ◽  
Male Predominance

Introduction: Males are twice as likely as females to receive pediatric growth hormone (GH) treatment in the United States, despite similar distributions of height z-scores in both sexes. Male predominance in evaluation and subspecialty referral for short stature contributes to this observation. This study investigates whether sex differences in GH stimulation testing and subsequent GH prescription further contribute to male predominance in GH treatment. Methods: Retrospective chart review was conducted of all individuals, age 2-16 years, evaluated for short stature or poor growth at a single large tertiary referral center between 2012-2019. Multiple logistic regression models were constructed to analyze sex differences. Results: Of 10,125 children referred for evaluation, a smaller proportion were female (35%). More males (13.1%) than females (10.6%) underwent GH stimulation testing (p<0.001) and did so at heights closer to average (median height z-score -2.2 [interquartile range (IQR) -2.6, -1.8] vs. -2.5 [IQR -3.0,-2.0], respectively; p<0.001). The proportion of GH prescriptions by sex was similar by stimulated peak GH level. Predictor variables in regression modeling differed by sex: commercial insurance predicted GH stimulation testing and GH prescription for males only, whereas lower height z-score predicted GH prescription for females only. Conclusions: Sex differences in rates of GH stimulation testing, but not subsequent GH prescription based on response to GH stimulation testing, seem to contribute to male predominance in pediatric GH treatment. That height z-score predicted GH prescription in females but not males raises questions about the extent to which sex bias—from children, parents and/or physicians—, as opposed to objective growth data, influence medical decision-making in the evaluation and treatment of short stature.

scholarly journals A Retrospective Analysis of Patients with Short Stature in the South of China between 2007 and 2015

2018 ◽  
Vol 2018 ◽  
pp. 1-8
Author(s):  
Su Wu ◽  
Qian-qi Liu ◽  
Wei Gu ◽  
Shi-ning Ni ◽  
Xing Shi ◽  
...  
Keyword(s):  
Short Stature ◽  
Chart Review ◽  
Retrospective Chart Review ◽  
The South ◽  
Treatment Needs ◽  
Normal Height ◽  
Poor Growth ◽  
Number Of Patients ◽  
Medical University ◽  
Age Range

Objective. To describe the demographic features of children with short stature and poor growth in the south of China and provide better guidance on clinical strategy and decisions. Study Design. This retrospective, chart review study analyzed children with short stature and poor growth admitted to the Department of Endocrinology of Children’s Hospital of Nanjing Medical University from Jan 2007 to Dec 2015. Results. The chart review yielded 4142 patients, including 2546 boys and 1596 girls (P < 0.001); the number of patients gradually increased per year from 2007 to 2015. There was an upward trend in the average levels of height standard deviations (SDs) during the study period (P < 0.001), both in males (P < 0.001) and females (P < 0.001). Mean height SDs were smaller in females (-2.42±1.09) than males (-2.33±1.03; P = 0.01). The percentage of females admitted at normal height (33.83%) was lower than that of males (37.20%; P = 0.028). The peak age range of hospitalization in males was 10–12 years of age, while females were generally admitted earlier—8–10 years. Conclusions. There was an increasing tendency to focus on children’s height. Parents and pediatricians were recommended to pay more attention to the treatment needs of girls while avoiding excessive treatment of those who merely appear not to be tall enough without a clear medical issue related to growth, especially for boys.

MicroRNAs as Therapeutic Agents: The Future of the Battle Against Cancer

2019 ◽  
Vol 18 (30) ◽  
pp. 2544-2554 ◽  
Author(s):  
Sumit Biswas
Keyword(s):  
Drug Resistance ◽  
Cancer Biology ◽  
Therapeutic Agents ◽  
Nucleotide Level ◽  
Target Mrnas ◽  
Sequencing Technologies ◽  
Tumour Suppressors ◽  
The Future ◽  
New Strategies

Since their discovery in the 1990’s, the study of a class of non-coding, single-stranded RNAs, christened the microRNAs has opened up new vistas in the field of cancer biology. MicroRNAs bind to their target mRNAs to act as either oncogenes or tumour suppressors. With the near-complete elucidation of the biogenesis pathway, and the advent of rapid sequencing technologies, microRNAs have slowly cemented their place as essential biomarkers for delineating the progression, metastasis, relapse or drug resistance of cancer. Being crucial players in the cancer pathway, there has been considerable urgency in designing molecules - both at the nucleotide and non-nucleotide level to counter the effects of their binding. A number of different approaches have yielded quite a body of compounds which have been found to be effective in the treatment of various tumours across many different organs. In this study, the focus is on the review of the timeline of discovery and characterization of microRNAs, underlining their importance in different cancers, shedding light on the discovery of anti-microRNA compounds and illustrating their uses in deriving new strategies to combat cancer.

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