Growth patterns of patients with Noonan syndrome: correlation with age and genotype

Background Growth patterns of patients with Noonan syndrome (NS) were established before the involved genes were identified. Objective The goal of this study was to compare growth parameters according to genotype in patients with NS. Subjects and methods The study population included 420 patients (176 females and 244 males) harboring mutations in the PTPN11, SOS1, RAF1, or KRAS genes. NS-associated PTPN11 mutations (NS-PTPN11) and NS with multiple lentigines-associated PTPN11 mutations (NSML-PTPN11) were distinguished. Birth measures and height and body mass index (BMI) measures at 2, 5, 10 years, and adulthood were compared with the general population and between genotypes. Results Patients with NS were shorter at birth (mean birth length standard deviation score (SDS): –1.0 ± 1.4; P < 0.001) and throughout childhood than the healthy population, with height SDS being –2.1 ± 1.3 at 2 years, and –2.1 ± 1.2 at 5 and 10 years and adulthood (P < 0.001). At birth, patients with NS-PTPN11 were significantly shorter and thinner than patients with NSML-PTPN11, SOS1, or KRAS. Growth retardation was significantly less severe and less frequent at 2 years in patients with NSML-PTPN11 and SOS1 than in patients with NS-PTPN11 (P < 0.001 and P = 0.002 respectively). Patients with NS had lower BMI at 10 years (P < 0.001). No difference between genotypes was demonstrated. Conclusion Determining the growth patterns of patients with NS according to genotype should better inform clinicians about the natural course of growth in NS so that they can optimize the follow-up and management of these patients.

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

Nephrology Dialysis Transplantation ◽

10.1093/ndt/gfaa142.p1826 ◽

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.

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Long-term effects of GnRH agonist treatment on body mass index in girls with idiopathic central precocious puberty

Journal of Pediatric Endocrinology and Metabolism ◽

10.1515/jpem-2019-0214 ◽

2020 ◽

Vol 33 (1) ◽

pp. 99-105 ◽

Cited By ~ 2

Author(s):

Dogus Vuralli ◽

Zeynep Alev Ozon ◽

Elmas Nazli Gonc ◽

Ayfer Alikasifoglu ◽

Nurgun Kandemir

Keyword(s):

Body Mass Index ◽

Body Mass ◽

Precocious Puberty ◽

Standard Deviation Score ◽

Central Precocious Puberty ◽

Normal Weight ◽

Long Term Effects ◽

Dietary Recommendations ◽

Idiopathic Central Precocious Puberty

AbstractIntroductionStudies evaluating effects of gonadotropin-releasing hormone agonist (GnRHa) on weight and body-mass-index (BMI) in girls with idiopathic central precocious puberty (iCPP) include short-term effects. The aim of this study is to investigate changes in BMI during and 2 years after completion of GnRHa to determine the factors that may impact BMI in girls with iCPP.MethodsMedical files of 138 girls who completed GnRHa were evaluated. All patients had weight and height measurements at the beginning and end of treatment, and 111 patients had anthropometric measurements 2 years after the completion of treatment.ResultsIn the beginning, 82 (59.4%) had normal weight (NW), 42 (30.4%) were overweight (OW), and 14 (10.2%) were obese (OB). Analysis of BMI-standard deviation score (SDS) in the whole group showed an overall increase during GnRHa treatment (0.92 ± 0.74 vs. 1.20 ± 0.51, p < 0.001). Changes in BMI-SDS (ΔBMI-SDS) during GnRHa differed between NW and OW/OB (0.45 ± 0.31 vs. 0.03 ± 0.20, p < 0.001). BMI-SDSs of both groups returned to baseline scores (or initial levels) 2 years after the completion of treatment. Two factors affecting ΔBMI-SDS in multiple linear regression analyses were baseline BMI and Δheight-SDS, both correlated negatively with ΔBMI-SDS.ConclusionsThe present study is one of the studies evaluating BMI change over a long period of time in girls with CPP. Although BMI-SDS increased during GnRHa in NW girls, it was reversible in follow-up after treatment. However, BMI-SDS did not change during and in follow-up in OW/OB girls. Conserving BMI-SDS in OW/OB girls may be related to the fact that weight management programs were recommended for these patients. Dietary recommendations should be provided for children with NW who undergo GnRHa, as is the case for OW patients.

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Outcomes from birth to 6 months of publicly insured infants born to mothers with severe acute respiratory syndrome coronavirus 2 infection in the United States

Journal of Perinatal Medicine ◽

10.1515/jpm-2021-0251 ◽

2021 ◽

Vol 0 (0) ◽

Author(s):

Tina L. Schuh ◽

Leena B. Mithal ◽

Sara Naureckas ◽

Emily S. Miller ◽

Craig F. Garfield ◽

...

Keyword(s):

Health Center ◽

Low Income ◽

Growth Parameters ◽

Clinical Status ◽

Genetic Diagnosis ◽

The United States ◽

Growth Patterns ◽

Publicly Insured ◽

In Pregnancy

Abstract Objectives We evaluated inpatient management, transition to home, breastfeeding, growth, and clinical outcomes of infants born to mothers diagnosed with SARS-CoV-2 infection in pregnancy and followed in a Federally Qualified Health Center (FQHC), that serves a diverse and low-income patient population, from birth through 6 months of life. Methods Infants born between 4/3/20 and 7/26/20 at Prentice Women’s Hospital with mothers who received prenatal care at Erie Family Health Center (Erie), the second largest FQHC in Illinois, and had confirmed SARS-CoV-2 during pregnancy were included. Data were abstracted from delivery hospital admission and outpatient follow-up appointments between 4/8/20 and 2/4/21. Results Thirty-three infants met inclusion criteria. Average gestational age was 38.9 weeks (IQR 37.6–40.4), 3 (10%) were premature and 5 (15%) required NICU admission. Nearly all (97%) mothers expressed intent to breastfeed. Outpatient follow-up rates were similar to historical cohorts and 82% (23/28) of infants were vaccination compliant. Growth parameters showed normal distributions at all time points. At 6 months, any and exclusive breast milk feeding rates were lower compared to historic cohorts (18 vs. 36%, p<0.05, 0 vs. 21%, p<0.01). Three infants (10%) received development-related referrals, one carried an underlying genetic diagnosis. Outpatient visits were predominantly face-to-face with telemedicine use comprising only 6% of visits (11/182). Conclusions Longitudinal follow-up of 33 publicly insured infants born to mothers with SARS-CoV-2 infection in pregnancy followed in an FQHC showed high rates of follow-up and vaccination compliance, normal growth patterns and reassuring clinical status, and lower than expected rates of breastfeeding.

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Risk of Asymptomatic Gallstones Becoming Symptomatic After Laparoscopic Sleeve Gastrectomy

The American Surgeon ◽

10.1177/00031348211011107 ◽

2021 ◽

pp. 000313482110111

Author(s):

Ozan Şen ◽

Ahmet G. Türkçapar

Keyword(s):

Body Mass Index ◽

Sleeve Gastrectomy ◽

Retrospective Study ◽

Laparoscopic Sleeve Gastrectomy ◽

Abdominal Ultrasound ◽

Concomitant Cholecystectomy ◽

Study Population ◽

The Mean ◽

Asymptomatic Gallstones

Background Whether concomitant cholecystectomy is needed during laparoscopic sleeve gastrectomy (LSG) in patients with asymptomatic cholelithiasis is controversial. In this study, our aim is to show the follow-up results in patients with asymptomatic cholelithiasis who underwent LSG alone. Methods Patients undergoing primary LSG between March 2018 and September 2020 with asymptomatic gallbladder stones were included in this retrospective study. All patients underwent abdominal ultrasound (US) before surgery. Patients’ demographics and postoperative outcomes were recorded. Results A total of 180 patients underwent primary LSG and completed the 1-year follow-up. The study population consisted of 42 patients (23%) with asymptomatic cholelithiasis. The mean age was 41.1±7.1 years (31-56, 63% female), and mean body mass index (BMI) was 44 ± 6.7 kg/m2. Average BMI decreased to 31.1 ± 4.7 kg/m2 at 6 months and to 27.3 ± 3.6 kg/m2 at 1 year. The average follow-up period was 17 ± 5.7 months (range, 12-28 months). Of the 42 patients, only 1 patient (2.4%) became symptomatic during the follow-up period. Discussion We do not recommend cholecystectomy in patients with asymptomatic gallstones during the same session with LSG. An observational approach should be adopted for these patients.

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Impact of Increased Body Mass Index on Accuracy of B-Type Natriuretic Peptide (BNP) and N-Terminal proBNP for Diagnosis of Decompensated Heart Failure and Prediction of All-Cause Mortality

Clinical Chemistry ◽

10.1373/clinchem.2009.129742 ◽

2010 ◽

Vol 56 (4) ◽

pp. 633-641 ◽

Cited By ~ 23

Author(s):

Robert H Christenson ◽

Hassan ME Azzazy ◽

Show-Hong Duh ◽

Susan Maynard ◽

Stephen L Seliger ◽

...

Keyword(s):

Heart Failure ◽

Body Mass Index ◽

Body Mass ◽

Decompensated Heart Failure ◽

Normal Weight ◽

Multivariate Logistic Regression Model ◽

Obese Patients ◽

All Cause Mortality ◽

Study Population

Abstract Background: BNP and N-terminal proBNP (NT-proBNP) concentrations may be depressed in patients with increased body mass index (BMI). Whether increased BMI affects accuracy of these biomarkers for diagnosing decompensated heart failure (HF) and predicting outcomes is unknown. Methods: We measured BNP and NT-proBNP in 685 patients with possible decompensated HF in a free-living community population subdivided by BMI as obese, overweight, and normal weight. HF diagnosis was adjudicated by a cardiologist blinded to BNP and NT-proBNP results. We tabulated all-cause mortality over a median follow-up of 401 days and assessed marker accuracy for HF diagnosis and mortality by ROC analysis. Results: Of the 685 patients, 40.9% were obese (n = 280), 28.2% were overweight (n = 193), and 30.9% had normal BMI (n = 212). Obese patients had lower BNP and NT-proBNP compared with overweight or normal-weight individuals (P < 0.001) and decreased mortality compared with normal-weight individuals (P < 0.001). Both biomarkers added significantly to a multivariate logistic regression model for diagnosis of decompensated HF across BMI categories. NT-proBNP outperformed BNP for predicting all-cause mortality in normal-weight individuals (χ2 for BNP = 6.4, P = 0.09; χ2 for NT-proBNP = 16.5, P < 0.001). Multivariate regression showed that both biomarkers remained significant predictors of decompensated HF diagnosis in each BMI subgroup. Conclusions: In this study population, obese patients had significantly lower BNP and NT-proBNP that reflected lower mortality. BNP and NT-proBNP can be used in all BMI groups for decompensated HF diagnosis, although BMI-specific cutpoints may be necessary to optimize sensitivity.

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P030 Impact of methotrexate on growth in children with Juvenile Idiopathic Arthritis

Rheumatology ◽

10.1093/rheumatology/keab722.022 ◽

2021 ◽

Vol 60 (Supplement_5) ◽

Author(s):

A Fazaa ◽

F Rouatbi ◽

S Miladi ◽

K Ouenniche ◽

L Souabni ◽

...

Keyword(s):

Growth Rate ◽

Juvenile Idiopathic Arthritis ◽

Growth Velocity ◽

Disease Duration ◽

Growth Parameters ◽

Standard Deviation Score ◽

Disease Onset ◽

Lower Growth ◽

Systemic Jia

Abstract Background Juvenile idiopathic arthritis (JIA) is a heterogeneous group of chronic inflammatory disease which could be responsible for functional impairment and severe growth disturbance. Conventional disease-modifying antirheumatic drugs, such as methotrexate (MTX), may improve growth velocity especially by regulating systemic inflammation. The objective of this study was to evaluate the effect of MTX on growth parameters in pre-pubertal children with JIA and to determine the factors affecting the growth velocity. Methods We assessed height and changes in the height standard deviation score (SDS) at disease onset, at the onset of MTX and at the last follow-up visit in a cross-sectional study of JIA children. All patients were pre-pubertal when MTX began and were followed for at least 6 months afterward. We compared growth parameters (height, growth rate, weight and body mass index (BMI)) in responders and non-responders to MTX. The growth rate was defined as the number of millimeters of height acquired during 1 year. Associations between changes in the height SDS and discrete variables were evaluated using χ2 or Fisher’s exact tests. The significance level was set at 0.05. Results We enrolled 36 pre-pubertal children with JIA (34 boys and 12 girls) who had been treated with MTX orally. Median patient age was 6.2 years [4–13] at the onset of MTX and 8.4 years [6.1–14.9] at the latest follow-up. The median disease duration was 2.7 years [2.5–5.3]. Twenty-one patients (58.3%) had oligoarticular JIA, 2 patients (5.5%) had systemic JIA, 10 (27.7%) had polyarticular JIA and 3 (8.3%) had enthesitis-related arthritis. Nineteen children (52.7%) had received corticosteroids during an average period of 1.7 years [0.6–3] with a mean of 10 mg/day of prednisone or equivalent. The median duration of MTX at the latest follow-up was 3.1 years [0.62–5.5] with a mean MTX dose of 10 mg/m2/week [10–15]. Twenty-eight patients responded to MTX treatment and 8 did not. There were no significant differences between the responders and non-responders for age at treatment initiation, disease duration and mean MTX dose. At MTX onset, no significant differences between the two groups in terms of height (P = 0.52), growth rate (P = 0.08), weight (P = 0.74) and BMI (P = 0.9) were found. One year after MTX therapy, mean height (0.2 vs -1.1; P = 0.03), mean growth rate (0.5 vs –2.9 SDS; P = 0.01), mean weight (0.4 vs -2.3 SDS; P = 0.01) and mean BMI (0.6 vs -1.9; P = 0.04) were significantly higher in the responder group than in non responders, respectively. At the latest follow-up, this increase was significantly maintained for growth rate (P = 0.001) and height (P = 0.002) in the responder group. In the multivariate analysis, patients who required >10 mg/m2/week of MTX, systemic JIA and patients with reliance on steroids had a significantly lower growth velocity after the onset of MTX (P < 001, P = 0.02, P = 0.02 respectively). Conclusion In our study, the increase in growth parameters in pre-pubertal children with JIA was associated with a better control of the disease activity under MTX therapy.

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Screening of Prediabetes and Type 2 Diabetes Mellitus in Rabigh, Saudi Arabia

Global Journal of Health Science ◽

10.5539/gjhs.v10n3p161 ◽

2018 ◽

Vol 10 (3) ◽

pp. 161

Author(s):

Amer Shafie Abdelrahman ◽

Zohair Jamil Gazzaz ◽

Mohamad Nidal Khabaz ◽

Marwan A. Bakarman ◽

AbdElaziz Yaseen ◽

...

Keyword(s):

Diabetes Mellitus ◽

Body Mass Index ◽

Waist Circumference ◽

Body Mass ◽

Study Groups ◽

King Abdulaziz University ◽

Study Population ◽

Number Of Individuals

INTRODUCTION: Identifying people with an increasing risk of diabetes provides a chance to change some factors before the occurrence of serious sequelae and permits the expectation of diabetes tendencies and the necessitated means to manage emerging diabetes. This current research aimed to screen students versus employees in Rabigh campus, King Abdulaziz University for the incidence of prediabetes and diabetes mellitus Type 2.METHODS: A sample of 279 was proportionally taken from student and employee study groups. Structured Modified Diabetic Risk Test (MDRT) questionnaire was adapted to be filled by each participant. Impaired glucose tolerance, body mass index, waist circumference and blood pressure of all participants were quantified. This study was done from January 2017 to March 2017.RESULTS: Higher pre-diabetic and diabetic risks were observed in employee as compared to students (ORPre-Dia=4.07 with 95% CI =1.518-10.95; ORDia=2.913 with 95% CI 0.815-10.41). Waist circumference and body mass index of students showed significant association with glucose level with p values 0.003 and 0.002 respectively.CONCLUSION: There are an alarming number of individuals with the risk of being affected by diabetes in both students and employees among this study population. These findings emphasize on the need for a primary healthcare clinic role in the screening, management, follow up and promoting community awareness of Diabetes Mellitus.

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Bedingungen für den Erfolg übergewichtiger und adipöser Kinder in einem ambulanten Programm zur Gewichtsreduktion durch Veränderungen des Lebensstils

Zeitschrift für Kinder- und Jugendpsychiatrie und Psychotherapie ◽

10.1024/1422-4917/a000059 ◽

2010 ◽

Vol 38 (5) ◽

pp. 351-360 ◽

Cited By ~ 1

Author(s):

Wilfried Pott ◽

Georg Fröhlich ◽

Özgür Albayrak ◽

Johannes Hebebrand ◽

Ursula Pauli-Pott

Keyword(s):

Body Mass Index ◽

Standard Deviation ◽

Body Mass ◽

Standard Deviation Score ◽

Psychische Belastung ◽

Deviation Score ◽

Höheres Alter

Fragestellung: Es wurde der Frage nachgegangen, ob sich erfolgreiche Teilnehmer eines ambulanten familienzentrierten Gewichtskontrollprogramms durch spezifische familiäre und psychologische Charakteristiken auszeichnen. Einbezogen wurden die psychosoziale Risikobelastung der Familie, Depressivität und Bindungsstil der Hauptbezugsperson, der Body mass index (BMI) und der BMI-Standardabweichungswert («Standard deviation score», SDS) des teilnehmenden Kindes und der Familienmitglieder sowie die individuelle psychische Belastung des teilnehmenden Kindes. Methodik: Die Daten wurden per Interview und Fragebogen vor dem Behandlungsbeginn erhoben. Von 136 in das Programm aufgenommenen übergewichtigen und adipösen Kindern zwischen 7 und 15 Jahren beendeten 116 das 12-monatige Interventionsprogramm. Von diesen zeigten 100 (85,3 %) eine Reduktion des BMI-SDS und 79 (68.1 %) eine mehr als 5 %ige Reduktion des BMI-SDS. Diese «erfolgreichen» Kinder wurden mit 56 «nicht erfolgreichen» (Abbrecher und Kinder mit einer 5 %igen oder geringeren Reduktion des BMI-SDS) verglichen. Ergebnisse: Nicht erfolgreiche Kinder unterschieden sich von den erfolgreichen durch ein höheres Alter, eine höhere psychosoziale Risikobelastung, Depressivität und einen vermeidenden Bindungsstil der Mutter sowie durch das Vorhandensein adipöser Geschwister. In einer logistischen Regressionsanalyse zeigten sich mütterliche Depressivität und das Vorhandensein adipöser Geschwister als beste und voneinander unabhängige Prädiktoren. Schlussfolgerungen: Um die spezifischen Bedürfnisse der Familien zu erfüllen und einen Misserfolg zu verhindern, sollten zusätzliche Programmbausteine zur spezifischen Unterstützung von Jugendlichen mit adipösen Geschwistern und Müttern mit Depressionen und vermeidenden Bindungsstil entwickelt werden. Die Wirksamkeit dieser Module muss dann in weiteren Studien überprüft werden.

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