scholarly journals Physical Growth of Patients with Hereditary Tyrosinaemia Type I: A Single-Centre Retrospective Study

Nutrients ◽  
2021 ◽  
Vol 13 (9) ◽  
pp. 3070
Author(s):  
Ozlem Yilmaz ◽  
Anne Daly ◽  
Alex Pinto ◽  
Catherine Ashmore ◽  
Sharon Evans ◽  
...  
Keyword(s):  
Normal Population ◽  
Overweight And Obesity ◽  
Physical Growth ◽  
Type I ◽  
Tyrosinaemia Type ◽  
Total Protein Intake ◽  
Z Scores ◽  
Population Standards ◽  
Median Height

In a retrospective review, we aimed to assess long-term growth in 17 patients (n = 11 males) with hereditary tyrosinaemia type I (HTI). Median age at assessment was 15.6 years (5.7–26.6 years) and median age at diagnosis was 1 month (range: 0–16 months), with 35% (n = 6/17) symptomatic on presentation. From the age of 8 years, there was a noticeable change in median height, weight, and body-mass-index [BMI]-z-scores. Median height-for-age z-scores were consistently ≤ −1 (IQR −1.6, −0.5) during the first 8 years of life but increased with age. Weight-for-age z-scores ranged between −1 to 0 (IQR −1.2, 0.1) in the first 8 years; then increased to > 0.5 (IQR −0.3, 1.3) by age 16 years, and BMI-for-age z-scores ranged from 0 to 1 (IQR −0.7, 1.3) up to 8 years, and >1 (IQR −0.2, 1.9) until 16 years. The percentage of overweight and obesity was lowest in children aged < 5 years, and consistently > 40% in patients aged between 7 to 16 years. The prescribed total protein intake was associated with improved height growth (p < 0.01). Impaired growth in early life improved with age achieving normal population standards. Further studies are needed to investigate factors that influence growth outcome in HTI patients.

Renal function in tyrosinaemia type I after liver transplantation: A long-term follow-up

2005 ◽  
Vol 28 (6) ◽  
pp. 871-876 ◽  
Author(s):  
L. J. W. M. Pierik ◽  
F. J. van Spronsen ◽  
C. M. A. Bijleveld ◽  
C. M. L. van Dael
Keyword(s):  
Liver Transplantation ◽  
Renal Function ◽  
Type I ◽  
Tyrosinaemia Type ◽  
Long Term Follow Up

NTBC treatment in tyrosinaemia type I: Long-term outcome in French patients

2008 ◽  
Vol 31 (1) ◽  
pp. 81-87 ◽  
Author(s):  
A. Masurel-Paulet ◽  
J. Poggi-Bach ◽  
M.-O. Rolland ◽  
O. Bernard ◽  
N. Guffon ◽  
...  
Keyword(s):  
Type I ◽  
Term Outcome ◽  
Tyrosinaemia Type ◽  
Long Term Outcome

scholarly journals Renal function in tyrosinaemia type I after liver transplantation: A long-term follow-up

2006 ◽  
Vol 29 (4) ◽  
pp. 597-597
Author(s):  
L. J. W. M. Pierik ◽  
F. J. van Spronsen ◽  
C. M. A. Bijleveld ◽  
C. M. L. van Dael
Keyword(s):  
Liver Transplantation ◽  
Renal Function ◽  
Type I ◽  
Tyrosinaemia Type ◽  
Long Term Follow Up

Decreased bone mass and increased bone turnover with valproate therapy in adults with epilepsy [RETRACTED]

Neurology ◽  
2001 ◽  
Vol 57 (3) ◽  
pp. 445-449 ◽  
Author(s):  
Y. Sato ◽  
I. Kondo ◽  
S. Ishida ◽  
H. Motooka ◽  
K. Takayama ◽  
...  
Keyword(s):  
Bone Resorption ◽  
Bone Mass ◽  
Calcium Metabolism ◽  
Type I Collagen ◽  
Bone Resorption Marker ◽  
Type I ◽  
Serum Concentrations ◽  
Mineral Density ◽  
Z Scores

Background: Bone loss and hypovitaminosis D are reported in patients taking antiepileptic drugs, but little is known about changes in bone and calcium metabolism from valproic acid (VPA).Objective: To assess the relationship of VPA to bone mass and calcium metabolism in 40 adults with epilepsy on long-term VPA monotherapy, 40 age- and sex-matched epileptic patients taking phenytoin (PHT), and 40 healthy control subjects. Bone mineral density (BMD) of the second metacarpal was determined as T- and Z-scores.Results: BMD reduction from control values was 14% (12% in men, 16% in women) with VPA and 13% (12% in men, 15% in women) with PHT. Among patients on VPA, nine (23%) had T-scores below −2.5 SD, suggesting osteoporosis; 15 (37%) had T-scores between −1 and −2.5 SD, suggesting osteopenia. Serum concentrations of calcium were significantly higher with VPA than in PHT or control groups. Serum concentrations of bone Gla protein (a bone formation marker) and pyridinoline cross-linked carboxy-terminal telopeptide of type I collagen (ICTP; a bone resorption marker) associated with either drug significantly exceeded control values. Z-scores for BMD in the VPA group correlated negatively with calcium and ICTP. High ICTP correlated positively with ionized calcium, implying that increased bone resorption caused the latter.Conclusion: Long-term VPA monotherapy can increase bone resorption, leading to decreased BMD.

Hereditary tyrosinaemia type I: A long-term study of the relationship between the urinary excretions of succinylacetone and δ-aminolevulinic acid

1993 ◽  
Vol 16 (6) ◽  
pp. 1034-1040 ◽  
Author(s):  
H. Schierbeek ◽  
G. J. J. Beukeveld ◽  
H. van Faassen ◽  
F. J. van Spronsen ◽  
K. Bijsterveld ◽  
...  
Keyword(s):  
Aminolevulinic Acid ◽  
Type I ◽  
Term Study ◽  
Tyrosinaemia Type ◽  
Long Term Study ◽  
The Relationship

Application of Two Neutral Mspl DNA Polymorphisms in the Analysis of Hereditary Protein C Deficiency

1990 ◽  
Vol 64 (02) ◽  
pp. 239-244 ◽  
Author(s):  
P H Reitsma ◽  
W te Lintel Hekkert ◽  
E Koenhen ◽  
P A van der Velden ◽  
C F Allaart ◽  
...  
Keyword(s):  
Protein C ◽  
Stop Codon ◽  
Normal Population ◽  
Amino Acid Position ◽  
Rare Allele ◽  
Dna Polymorphisms ◽  
Type I ◽  
Protein C Deficiency ◽  
Gene Deletions ◽  
Allelic Frequencies

SummaryScreening of restriction erzyme digested DNA from normal and protein C deficient individuals with a variety of probes derived from the protein C locus has revealed the existence of two neutral MspI polymorphism. One polymorphism (MI), which is located ≈7 kb upstream of the protein C gene, has allelic frequencies of 69 and 31%, and was used to exclude extensive gene deletions as a likely cause of type I protein C deficiency in 50% of cases in a panel of 22 families. Furtherrnore, the same polymorphism has been used in 5 doubly affected individuals establishing compound heterozygosity in 3 of these.The second, intragenic, polymorphism (MII) has allelic frequencies of 99 and 1% in the normal population. The frequency of the rare allele of this RFLP was with 7% much higher in a panel of 22 Dutch families with protein C deficiency. Interestingly, in all three probands that were heterozygous for MII the rare allele of MII coincided with a point mutation that leads to a stop codon in amino acid position 306 of the protein C coding sequence. This mutation may account for 14% of the protein C deficient individuals in The Netherlands.

Comparative Study of effectiveness of mobilization with movement (MWM) and End range mobilization (ERM) techniques in frozen shoulder

2018 ◽  
Vol 4 (4) ◽  
pp. 519-522
Author(s):  
Jeyakumar S ◽  
Jagatheesan Alagesan ◽  
T.S. Muthukumar
Keyword(s):  
Range Of Motion ◽  
Frozen Shoulder ◽  
Type I ◽  
Mean Values ◽  
Functional Activities ◽  
Group A ◽  
The Mean ◽  
Group B

Background: Frozen shoulder is disorder of the connective tissue that limits the normal Range of motion of the shoulder in diabetes, frozen shoulder is thought to be caused by changes to the collagen in the shoulder joint as a result of long term Hypoglycemia. Mobilization is a therapeutic movement of the joint. The goal is to restore normal joint motion and rhythm. The use of mobilization with movement for peripheral joints was developed by mulligan. This technique combines a sustained application of manual technique “gliding” force to the joint with concurrent physiologic motion of joint, either actively or passively. This study aims to find out the effects of mobilization with movement and end range mobilization in frozen shoulder in Type I diabetics. Materials and Methods: 30 subjects both male and female, suffering with shoulder pain and clinically diagnosed with frozen shoulder was recruited for the study and divided into two groups with 15 patients each based on convenient sampling method. Group A patients received mobilization with movement and Group B patients received end range mobilization for three weeks. The outcome measurements were SPADI, Functional hand to back scale, abduction range of motion using goniometer and VAS. Results: The mean values of all parameters showed significant differences in group A as compared to group B in terms of decreased pain, increased abduction range and other outcome measures. Conclusion: Based on the results it has been concluded that treating the type 1 diabetic patient with frozen shoulder, mobilization with movement exercise shows better results than end range mobilization in reducing pain and increase functional activities and mobility in frozen shoulder.

Effects of long-term optimization and short-term deterioration of glycemic control on glucose counterregulation in type I diabetes mellitus

Diabetes ◽  
1984 ◽  
Vol 33 (4) ◽  
pp. 394-400 ◽  
Author(s):  
G. Bolli ◽  
P. De Feo ◽  
S. De Cosmo ◽  
G. Perriello ◽  
G. Angeletti ◽  
...  
Keyword(s):  
Diabetes Mellitus ◽  
Glycemic Control ◽  
Type I Diabetes ◽  
Type I Diabetes Mellitus ◽  
Type I ◽  
Short Term

scholarly journals Bidirectional association of neurodevelopment with growth: a prospective cohort study

2021 ◽  
Vol 21 (1) ◽  
Author(s):  
Xiaotong Wei ◽  
Jiajin Hu ◽  
Liu Yang ◽  
Ming Gao ◽  
Lin Li ◽  
...  
Keyword(s):  
Cohort Study ◽  
Social Behavior ◽  
Physical Growth ◽  
Regression Analyses ◽  
Gross Motor ◽  
Neurological Outcomes ◽  
Bidirectional Association ◽  
Z Scores ◽  
Bidirectional Associations ◽  
Longitudinal Relationships

Abstract Background The study aims to use the cross-lagged model and utilize data from the Born in Shenyang Cohort Study to characterize the bidirectional associations of the term-born infants’ neurodevelopment in five domains and physical growth in early life. Method This study consists of 688 mother-child dyads from the Born in Shenyang Cohort Study. Infants’ anthropometric (weight and length) and development in neurological outcomes (Gesell Development Scale) were measured at the age of 6 and 12 months. Cross-lagged analyses and multiple linear regression analyses were used to explore the longitudinal relationships in both directions. Results In terms of longitudinal studies, the inverse associations between infants’ two skills (gross motor and social behavior) at the age of 6 months with BMI Z -scores at the age of 12 months (gross motor: aβ = − 0.20, 95% CI: − 0.31 to- 0.09; social behavior: aβ = − 0.23, 95% CI: − 0.33 to- 0.13) were found. Conversely, a higher infant Z -scored BMI at the age of 6 months predicted a lower gross motor at the age of 12 months (aβ = − 0.08, 95% CI: − 0.12 to- 0.04). In cross-lagged analyses, an adverse association in both directions between gross motor and Z -scored BMI was observed. Conclusion We found bidirectional relationships between infants’ neurodevelopment of gross motor with physical growth and suggested the term-born infants, who are on the edge of the developmental danger, should not be overlooked.

Sign in / Sign up

Export Citation Format

Share Document