scholarly journals SHOX Deficiency in Argentinean Cohort: Long-Term Auxological Follow-Up and a Family's New Mutation

2019 ◽  
Vol 08 (03) ◽  
pp. 123-132
Author(s):  
Mariana del Pino ◽  
Miriam Aza-Carmona ◽  
David Medino-Martín ◽  
Abel Gomez ◽  
Karen E. Heath ◽  
...  
Keyword(s):  
Standard Deviation Score ◽  
Growth Spurt ◽  
Growth Delay ◽  
New Mutation ◽  
Shox Gene ◽  
Sitting Height ◽  
The Family ◽  
Hand Length

AbstractA cohort study on the growth of 19 Argentinean children, aged 0 to 18 years, and 11 of their first-degree relatives with alterations in the SHOX gene or its regulatory regions is reported. Children are born shorter and experience a growth delay during childhood with a stunted pubertal growth spurt. Body disproportion, with a sitting height/height ratio above +2 standard deviation score (SDS), was already present as early as 2 years old. Hand length was normal. Shortening of the radius, with a length below –1.9 SDS, was the earliest and most frequent radiological sign detected as early as 45 days old. We found a previously unreported mutation in a family with a highly variable phenotype, the boy had a severe phenotype with a milder presentation in other affected members of the family. We conclude that body disproportion and a shorter radius length on X-ray are useful tools for selecting children to undergo SHOX molecular studies.

scholarly journals HGG-47. DECREASED GROWTH VELOCITY WITH LONG TERM USE OF BRAFV600e AND MEK INHIBITION IN A PATIENT WITH ANAPLASTIC GANGLIOGLIOMA

2020 ◽  
Vol 22 (Supplement_3) ◽  
pp. iii352-iii352
Author(s):  
Hung Tran ◽  
Robert Cooper
Keyword(s):  
Growth Velocity ◽  
Direct Result ◽  
Chromosomal Microarray ◽  
Mek Inhibition ◽  
Follow Up Study ◽  
The Family ◽  
The Relationship

Abstract PURPOSE To describe decreased growth velocity with long term use of BRAFV600e and MEK inhibition in a patient with anaplastic ganglioglioma. RESULTS 4-year-old patient was found to have a 6 x 4.6 x 5 cm mass in the hypothalamus. Pathology consistent with anaplastic ganglioglioma and chromosomal microarray revealed a BRAFV600e mutation. Patient started on dabrafenib and trametinib and tumor decreased 85% after 3 months. She is stable without significant toxicities 39 months on therapy, and is now 8 years old. Patient had been growing at the 25% for weight and 12% for height but is now 65% for weight and 0.5% for height. It is difficult to tease out the relationship between the tumor, the location of the tumor, and the BRAF and MEK inhibitors and their effect on growth. Discussions with the family and endocrinology are ongoing but being <1% for height will lead to decrease in quality of life. CONCLUSIONS Further follow-up study is needed to determine if this is truly a long-term toxicity, or if this may just be a direct result of the location of the tumor. Would supplementation with growth hormone in this patient lead to losing control of a high grade tumor, or would it simply replace a hormone that is not produced?

scholarly journals P1826ASSESSMENT OF GROWTH PARAMETERS OF CHILDREN IN LONG TERM FOLLOW UP WITH DIFFERENT RELAPSING COURSE OF NEPHROTIC SYNDROME

2020 ◽  
Vol 35 (Supplement_3) ◽  
Author(s):  
Sonia Sharma
Keyword(s):  
Nephrotic Syndrome ◽  
Growth Parameters ◽  
Tertiary Care ◽  
Age At Onset ◽  
Standard Deviation Score ◽  
Pediatric Nephrology ◽  
Group 2 ◽  
Nephrotic Children

Abstract Background and Aims Childhood Nephrotic syndrome has its peak onset in the age group 2-4 years, and that is also a period of significant height growth. Corticosteroids and chronic diseases are known to have long term effects on growth parameters of these children. Hence we assessed and compared the growth of children with Infrequent relapsing (IFRNS) and remission (R) as group 1, Frequent -relapsing (FR), and steroid - dependent (SD) as group 2 and steroid -resistant (SR) as group 3. Method This retrospective single center study collected data from medical records of children presented in a pediatric nephrology clinic in a tertiary care center in New Delhi. Nephrotic children, aged 1-18 years with regular follow up in the period of 2014 to 2019 were included. Basic demographic details including age at onset and age at last follow up in clinic, sex, anthropometry details at last follow up were recorded. We traced initial height at nephrotic syndrome onset to assess growth velocity but were unavailable at the moment so excluded from analysis. Also, children completed less than 1 year follow up, and compliance issues were excluded. Z scores (standard deviation score) for weight, height and BMI were calculated. Initial comparison of three groups as FR/SDNS, IFRNS/R and SRNS was done. But in the second comparison, we combined FR/SD and SR children in one group as Difficult nephrotic syndrome (DNS) group. Anova Kruskal-Wallis test was used to find significance in three groups in table 1. Subsequent analysis was done by the non-parametric statistic method Mann-Whitney Test to assess significance in subgroups of boys and girls. Results: 27 IFR/R nephrotic children, 36 FR/SD, and 15 SRNS were compared as in Table1. D-NS and IFRNS-R for boys and girls ratio (11; 16) & (18; 32) followed for a median period of 18 (max 46; 12), 24.6 (57.6; 12), and 32 (50;12) months respectively. Conclusion Linear growth (height) is the most affected parameters in children in SRNS and FR/SD nephrotic syndrome. Effect is more significant in girls then in boys as they showed improvement in . No difference in weight and BMI is seen on applied statistics in two groups.

scholarly journals Impact of Alzheimer’s disease on the family caregiver’s long-term quality of life: results from an ALSOVA follow-up study

2015 ◽  
Vol 25 (3) ◽  
pp. 687-697 ◽  
Author(s):  
Tarja H. Välimäki ◽  
Janne A. Martikainen ◽  
Kristiina Hongisto ◽  
Saku Väätäinen ◽  
Harri Sintonen ◽  
...  
Keyword(s):  
Quality Of Life ◽  
Alzheimer’S Disease ◽  
Alzheimer's Disease ◽  
Follow Up Study ◽  
The Family

The Strengthening Families Programme in Spain: a long-term evaluation

2015 ◽  
Vol 10 (2) ◽  
pp. 101-119 ◽  
Author(s):  
Carmen Orte ◽  
Lluís Ballester ◽  
Martí X. March ◽  
Joan Amer ◽  
Marga Vives ◽  
...  
Keyword(s):  
Content Type ◽  
Family Competence ◽  
The Family ◽  
Family Typologies ◽  
Prevention Programmes ◽  
Term Evaluation ◽  
Strengthening Families ◽  
Over Time

Purpose – The purpose of this paper is to first assess the long-term effects of the adaptation of the American Strengthening Families Programme in Spain (known as the Programa de Competencia Familiar, translated into English as the Family Competence Programme (FCP)). The second aim is to identify family typologies and family changes regarding family competence over time. The paper’s initial hypothesis is that families have different behaviours and take advantage of the FCP in different ways. Design/methodology/approach – Monitored applications of the FCP were conducted using a quasi-experimental design consisting of a control group and pre-test, post-test and two-year follow-up assessments. The sample was made up of 136 families who took part in the programme and another 18 who participated in the control groups. Validated instruments were applied to assess the methodological processes and the family assessments. A cluster analysis was undertaken to identify different family typologies and their evolution in relation to the FCP goals. Findings – The FCP shows effective and consistent results over time for families in a variety of difficult situations, with important result maintenance. The longitudinal analysis (i.e. the two-year follow-up) demonstrates that the majority of changes identified (using the factors under consideration) maintained their relevance for most of the families, producing positive change. Originality/value – There is little long-term evaluation or longitudinal analysis of family prevention programmes that are evidence-based and include cognitive-emotional content. This paper analyses the long-term evaluation of family prevention programmes and identifies the ways in which families change over time.

scholarly journals Long-Term Outcome of Adolescent Anorexia Nervosa: Family Treatment Apartments Compared With Child Psychiatric Inpatient Treatment

2021 ◽  
Vol 12 ◽  
Author(s):  
Ulf Wallin ◽  
Riitta Holmer
Keyword(s):  
Anorexia Nervosa ◽  
Hospital Care ◽  
Psychiatric Inpatient ◽  
Family Treatment ◽  
Term Outcome ◽  
Long Term Outcome ◽  
Child Psychiatric ◽  
The Family

Introduction: The family is rarely involved in treatment when the patient with anorexia nervosa (AN) is hospitalized. Family treatment apartment (FTA) represents an intervention that includes the family in the intensive treatment of AN. This study compares the short- and long-term outcomes of adolescents treated in FTA with those who received inpatient hospital care. In FTA, the parents are responsible for providing meal support, whereas in hospital care, the staff is responsible.Methods: Sixty-eight previous patients admitted during the period 1990–2009 participated in a follow-up, 43 from the FTA where the whole family is admitted for treatment and 25 from regular psychiatric inpatient care. The follow-up consisted of a personal meeting with structured interviews, measurement of height and weight, and self-rating questionnaires.Result: Readmissions due to weight loss within 6 months from discharge were less common in the FTA group. At follow-up, 14.2 years after admission, there was no difference in eating disorder pathology between the groups. There were significantly lower scores on general psychiatric pathology and significantly higher scores on quality of life in the FTA group.Discussion: The treatment in FTA aims to give the family the ability to handle AN when it is most challenging. FTA may thus provide a helpful context for treatment with a basic sense of security along with skills that could contribute to better general mental health at follow-up.

scholarly journals Long-term growth hormone (GH) replacement of adult GH deficiency (GHD) benefits the heart

2019 ◽  
Vol 181 (1) ◽  
pp. 79-91 ◽  
Author(s):  
A Ziagaki ◽  
D Blaschke ◽  
W Haverkamp ◽  
U Plöckinger
Keyword(s):  
Heart Failure ◽  
Growth Hormone ◽  
Gh Deficiency ◽  
Interventricular Septum ◽  
Standard Deviation Score ◽  
Left Ventricular ◽  
Amino Terminal ◽  
Gh Replacement

Objective Growth hormone (GH) deficiency is related to increased cardiovascular mortality. We studied clinical status, concentration of amino-terminal-pro B-type natriuretic-peptide (NT-proBNP) and echocardiographic parameters during long-term GH replacement (GH-R). Methods Fifty-one patients (29 females), 45.9 ± 11.3 years (mean ± s.d.), median follow-up 36.2 months, echocardiography and laboratory determinations initially and at 12-months intervals. Results At the last follow-up (last observation carried forward) (LFU (LOCF)) insulin-like growth-factor-1 standard deviation score (IGF-1 SDS) was ±1 in 92% of the patients. The median NT-proBNP declined significantly and stabilized (−40.5%) at LFU (LOCF) due to patients with a basal NT-proBNP >125 ng/L (indicative of heart failure). The basal NT-proBNP and the final IGF-1 SDS were significant predictors of the NT-proBNP at LFU (LOCF). Initially left ventricular enddiastolic diameter (LVEDD), left ventricular posterior wall diameter (LVPWD) and ejection fraction (EF) were normal, while interventricular septum diameter (IVSD) and left ventricular mass index (LVMi) were slightly increased. LVPWD and IVSD had significantly declined by year three. The LVMi was moderately to severely abnormal in 37.3 and 52.0% of patients initially and at LFU (LOCF). At LFU (LOCF) LVMi and IGF-1 were significantly correlated in the 14 male patients of this subgroup. Conclusion Long-term GH-R of GHD positively affected ISVD and LVPWD. In a subgroup of patients with severe GHD, LVMi increased concomitantly to the decline in NT-proBNP and this was positively correlated to the final IGF-1 concentration. Whether this observation indicates a positive development in a structurally altered heart muscle (reversal of adverse remodelling) or poses a future risk for heart failure needs further follow-up.

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