scholarly journals Guideline Adherence and Registry Recruitment of Congenital Primary Hypothyroidism: Data from the German Registry for Congenital Hypothyroidism (HypoDok)

2021 ◽  
Vol 7 (1) ◽  
pp. 10
Author(s):  
Julia Thomann ◽  
Sascha R. Tittel ◽  
Egbert Voss ◽  
Rudolf Oeverink ◽  
Katja Palm ◽  
...  

Neonatal screening for congenital primary hypothyroidism (CH) is mandatory in Germany but medical care thereafter remains inconsistent. Therefore, the registry HypoDok of the German Society of Pediatric Endocrinology and Diabetology (DGKED) was analyzed to evaluate the implementation of evidence-based guidelines and to assess the number of included patients. Inclusion criteria were (i) date of birth between 10/2001 and 05/2020 and (ii) increased thyroid-stimulating hormone (TSH) at screening and/or confirmation. The cohort was divided into before (A) and after (B) guideline publication in 02/2011, to assess the guideline’s influence on medical care. A total of 659 patients were analyzed as group A (n = 327) and group B (n = 332) representing 17.5% and 10.3% of CH patients identified in the German and Austrian neonatal screening program during the respective time period. Treatment start and thyroxine doses were similar in both groups and consistent with recommendations. Regular follow-ups were documented. In the first three years of life, less than half of the patients underwent audiometry; developmental assessment was performed in 49.3% (A) and 24.8% (B) (p < 0.01). Documentation of CH patient care by pediatric endocrinologists seemed to be established, however, it reflected only a minority of the affected patients. Therefore, comprehensive documentation as an important instrument of quality assurance and evidence-based medicine should be legally enforced and officially funded in order to record, comprehend, and optimize care and outcome in patients with rare diseases such as CH.

2020 ◽  
Author(s):  
Julia Thomann ◽  
Sascha R. Tittel ◽  
Egbert Voß ◽  
Rudolf Oeverink ◽  
Katja Palm ◽  
...  

Abstract Background: Neonatal screening for congenital primary hypothyroidism (CH) is mandatory in Germany but medical care thereafter remains inconsistent. Therefore, the multicentre database HypoDok was analysed to evaluate the implementation of evidence-based guidelines in the care of children with CH and to assess the number of patients in this registry of the German society of paediatric endocrinology and diabetology (DGKED).Methods: HypoDok includes the prospective documentation of 1,630 patients with CH from 50 centres in Germany and Austria. Inclusion criteria were (i) date of birth between 10/2001 and 05/2020 and (ii) increased TSH at screening and/or confirmation. Parameters regarding diagnosis, therapy and follow-up were extracted. The number of registered patients was compared to the number in the report of the German Society for Neonatal Screening (DGNS). The cohort was divided into 2 groups, before (A) and after (B) guideline publication in 02/2011, to assess guideline’s influence on medical care.Results: 659 patients (62% female) were eligible and analysed as group A (n=327) and group B (n=332) representing 17.5% and 6.7% of CH patients identified in the German and Austrian neonatal screening program during the respective time period. Treatment start and thyroxin doses were similar in both groups and consistent with recommendations. Regular follow-ups were documented in both groups including five appointments in the first and three in the second year of life. Ultrasound of the thyroid gland was performed in 92.6% (A) and 92.1% (B) of the patients. In the first three years of life, 46.4% (A) and 40.0% (B) of the patients underwent audiometry, EQ/IQ testing was performed in 49.3% (A) and 24.8% (B) (p<0.01), respectively.Summary: While documentation of care for patients with CH by paediatric endocrinologists seems to be established, only a minority of all affected patients is included in HypoDok. Thus, the care and outcome of the majority of patients with CH remains uncertain. Therefore, comprehensive documentation as an important instrument of quality assurance and evidence-based medicine should be legally enforced and officially funded in order to record, comprehend and optimize care and outcome in patients with rare diseases such as CH, irrespective of treatment provider.


2021 ◽  
Vol 2021 ◽  
pp. 1-7
Author(s):  
Zhaofang Zhang ◽  
Mei Dong ◽  
Yuejiao Han ◽  
Hui Lin ◽  
Anying Li ◽  
...  

Objective. To explore the application effect of medical care integration combined with family intervention under the evidence-based nursing mode on child patients with severe hand-foot-mouth disease (HFMD) and its influence on intestinal function. Methods. 120 child patients with severe HFMD admitted to Qilu Children’s Hospital of Shandong University from January 2019 to January 2020 were selected as the research object and randomly divided into group A and group B, with 60 cases each. Conventional nursing was performed on patients in group B, and medical care integration combined with family intervention under the evidence-based nursing mode was performed on patients in group A. Patients were assessed after the intervention using the hospital-made treatment adherence scale, PedsQLTM 4.0 (Pediatric Quality of Life Inventory Version 4.0) scale, and the faces pain scale-revised (FPS-R). The levels of gastrointestinal function indicators such as serum endotoxin (ET), diamine oxidase (DAO), and d-lactic acid (D-LA) were measured before and after the intervention, and recovery such as time to clear fever and time to relief of oral pain were recorded in both groups. Results. Children in group A had significantly higher compliance in diet, behaviour, exercise, and medication than group B ( P < 0.05 ); the time to clear fever, time to relief of oral pain, time to healing of oral ulcers, time to relief of skin herpes, time to hospitalization, and time to eating were shorter in group A than those in group B ( P < 0.001 ); all scores on the PedsQLTM 4.0 scale were higher in group A than those in group B after the intervention ( P < 0.001 ); ET, DAO, and D-LA levels decreased in both groups after the intervention, with group A having lower levels than group B ( P < 0.001 ), in addition, group A had lower eating pain scores after the intervention ( P < 0.05 ). Conclusion. Medical care integration combined with family intervention under the evidence-based nursing mode can effectively improve the treatment compliance of child patients with severe HFMD, accelerate their recovery progress, ensure a better prognostic quality of life and gastrointestinal tract function, and reduce the eating pain, indicating that such comprehensive nursing intervention mode should be promoted in practice.


PEDIATRICS ◽  
1985 ◽  
Vol 76 (5) ◽  
pp. 734-740
Author(s):  
Stephen H. LaFranchi ◽  
Cheryl E. Hanna ◽  
Patricia L. Krainz ◽  
Michael R. Skeels ◽  
Richard S. Miyahira ◽  
...  

To determine the benefit of collecting two routine specimens to test for congenital hypothyroidism, we examined the results of our newborn screening program during the last 9.5 years. The Northwest Regional Screening Program (NWRSP) performs a primary thyroxine test with thyroid-stimulating hormone determinations on the lowest 10% of dried blood filter paper specimens. An initial specimen is obtained in the newborn period, and a routine second specimen is collected at approximately 4 to 6 weeks of age in all infants born in Oregon and 25% of infants born in Idaho, Montana, Alaska, and Nevada. Between May 1975 and October 1984, 182 infants with primary hypothyroidism were detected from 811,917 infants screened, a prevalence rate of 1:4,461. The routine second specimen led to the diagnosis of 19 infants of 484,604 infants screened, a detection rate of 1:25,505. When infants detected by the second screen were compared with those detected by the first screen, they had higher thyroxine and lower thyroidstimulating hormone concentrations on filter paper and serum specimens. When thyroid scanning was used, all but one infant detected by the second screen had some residual thyroid tissue, whereas 35% of infants detected by the first screen had thyroid aplasia. Skeletal maturation was more likely to be normal in infants detected by the second screen. These infants appear to have milder hypothyroidism due to a later age of onset or slower evolution of thyroid failure. At a cost of $31,881 per infant detected by the second screen, the NWRSP found it cost-effective to obtain a routine second specimen.


PEDIATRICS ◽  
1979 ◽  
Vol 63 (2) ◽  
pp. 180-191 ◽  
Author(s):  
Stephen H. LaFranchi ◽  
William H. Murphey ◽  
Thomas P. Foley ◽  
P. Reed Larsen ◽  
Neil R.M. Buist

The Northwest Regional Screening Program to detect congenital hypothyroidism in infants born in Oregon, Montana, Alaska, and Idaho (combined birthrate of 69,000/yr) was added to our ongoing screening program in 1975. The program utilizes dried blood filter paper specimens collected routinely in the first few days of life in all four states and again at about 6 weeks of age in Oregon only. The screening tests consist of an initial thyroxine (T4) measurement; a thyroid-stimulating hormone (TSH) determination is performed on those specimens with T4 concentrations in the lowest 3% group. Serum samples obtained by venipuncture are requested for confirmation of the diagnosis. In the first two years of the program, 25 infants with primary hypothyroidism were detected among 110,667 infants screened, a frequency of 1:4,430. Fourteen cases of thyroxine-binding globulin deficiency were also detected, a frequency of 1:7,900. Using the T4 followed by TSH testing approach, the frequency of requests for repeat specimens was 0.4% in Oregon and 0.05% in the other states. The cost per specimen was $1.96. The majority of infants lacked clinical signs or symptoms of hypothyroidism; only one infant was clinically suspected of having hypothyroidism prior to detection. The most common neonatal symptoms were constipation, lethargy, and prolonged jaundice, while the most common physical signs were hypotonia, umbilical hernia, and large fontanels. Thyroid scans showed the most common etiology to be thyroid aplasia, followed by an ectopic gland, hypoplasia, and goitèr. Serum T4 concentrations were lowest in those infants with aplasia, intermediate in infants with an ectopic gland or hypoplasia, and normal in the infant with the goiter. Neonatal hypothyroidism varies in degree and has several different causes; the capacity to secrete thyroid hormone, the duration before hypothyroidism becomes clinically manifest, and possibly the eventual prognosis for intellectual function depend on the nature of the underlying cause. While the mean age at treatment was 59 days, the goal of diagnosing congenital hypothyroidism and treating affected infants by 1 month of age seems realistic.


2018 ◽  
Vol 39 (06) ◽  
pp. 636-642
Author(s):  
Jörg Heil ◽  
Sarah Hug ◽  
Heike Martiny ◽  
Michael Golatta ◽  
Manuel Feisst ◽  
...  

Abstract Purpose The aim was to obtain an overview of the hygiene measures undertaken during ultrasound guided core cut biopsies of the breast by experts certified by the German Society for Ultrasound in Medicine in order to derive recommendations for clinical routine, taking into account the available literature and the lack of evidence based guidelines. Materials and Methods A survey was conducted with all members of the levels I to III of the breast ultrasound working group of the German Society for Ultrasound in Medicine. The estimation of the risk of infection after a core cut biopsy of the breast was asked for as well as the hygiene measures undertaken in practice to avoid infection. Results The risk of infection after a core cut biopsy of the breast was estimated to be one per thousand (median value). The most commonly performed hygiene measures were a spray, wipe, spray desinfection (98.1 %) and the use of sterile gloves (54.7 %). Conclusion Due to the very low risk of infection we recommend the routine use of gloves and an adequate skin disinfection. Contact of the transducer or of an unsterile contact medium with the biopsy needle is considered highly unlikely und should be avoided.


2018 ◽  
Vol 31 (6) ◽  
pp. 619-624 ◽  
Author(s):  
Yılmaz Kor ◽  
Deniz Kor

Abstract Background: Congenital hypothyroidism (CH) is a common cause of mental retardation; it has a worldwide incidence ranging from 1:3000 to 1:4500 live births. Predictably, an increase in the reported incidence of primary CH occurs when the cut-off levels of thyroid-stimulating hormone are lowered. We aimed to evaluate the results of a congenital hypothyroidism screening program and current status in this study. Methods: Analysis results of 1300 infants who were referred to the endocrinology polyclinic because of suspected CH within the scope of the Ministry of Health National Neonatal Screening Program were retrospectively evaluated. Results: The diagnosis of CH and initiation of treatment were both done in 223 (18.5%) and 10 (0.8%) infants as a result of the initial evaluation and follow-up, respectively. The mean capillary and venous thyroid-stimulating hormone (TSH) levels of 223 patients were 40.78 (5.5–100) μIU/mL and 67.26 (10.7–100) μIU/mL, respectively. These patients’ mean heel prick time was 8.65 (0–30, median: 7) days. The mean age of the 223 infants whose treatment was initiated as a result of the initial evaluation was 19.87 (4–51, median: 20) days, and the mean age of the infants whose treatment was started at follow-up was 43.71 (29–65) days. The duration between heel prick time and venous TSH time was 11.10 (2–28, median: 11) days and was longer than planned (3–5 days). Conclusions: Although the duration for the diagnosis and initiation of CH treatment were markedly reduced with the implementation of the screening program in Turkey compared to those before the implementation of the screening program, we have not yet achieved the ideal time (≤14 days).


2021 ◽  
Author(s):  
Maria José Costeira ◽  
Andreia Martins ◽  
Raquel Reis ◽  
Laura Vilarinho ◽  
Joana Palha

Abstract Background: Congenital hypothyroidism (CH) has severe and irreversible neurological consequences for the child if treatment is not readily initiated, which justifies fast diagnosis. Screening of CH is a universal procedure well established in Portugal. It is based on measuring the pituitary thyroid stimulating hormone. The physiology of maturation of the pituitary-thyroid axis is incomplete at delivery in preterm and very-low birth weight babies (VLBW), which raises concerns with respect to the standard timing of CH diagnosis.The Portuguese Neonatal Screening Program recommends testing preterm/VLBW babies at three time points. The purpose of this study was to assess compliance of these guidelines.Methods: Questionnaires were sent to neonatal care units (NCU) and to general practitioner community health units in two time periods.Results: All NCU have written guidelines and the great majority follows the recommendations. Few NCU still postpone the first collection for newborns with protein intake restrictions, some retest new-borns in special circumstances, and a great number still use iodine disinfectants.Conclusions: This study shows that performing the metabolic screening is a well standardized procedure that can still be improved: not delaying the first collection, retesting sick and medicated babies, and avoiding iodine disinfectants.


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