Claes Guthenberg's research while affiliated with Karolinska Institutet and other places
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Publications (14)
Importance
Recent reports have questioned the rationale for neonatal screening for congenital adrenal hyperplasia (CAH) owing to low sensitivity in salt-wasting forms and a high rate of recall (ie, a positive finding resulting in a visit to a pediatrician and a second test) in preterm infants.Objective
To determine the efficiency of the neonatal...
Newborn screening was implemented in the 1960s with screening for phenylketonuria (PKU). In the same decade, it became possible to screen for classical galactosemia, a rare autosomal recessive inherited disorder, which is potentially life threatening if not treated. While newborn screening for PKU has become almost universal, galactosemia is includ...
Biotinidase deficiency is an autosomal recessive metabolic disorder included in many newborn screening programmes. Prior to the introduction of screening for biotinidase deficiency in Sweden in 2002, the disorder was almost unknown, with only one case diagnosed clinically. Biotinidase activity was measured in dried blood spots with a semiquantitati...
Congenital cytomegalovirus (CMV) infection is asymptomatic in 90% of infected newborns but approximately 10–20% of these infants are at risk of developing sequelae later, mostly hearing deficit. The aims of the study were to investigate the prevalence of congenital CMV infection in a Swedish population of newborns and investigate the relative risk...
Down syndrome (DS) is frequently associated with thyroid dysfunction. The aim of this study was to investigate the blood concentration of thyrotropin (TSH) observed at neonatal screening of infants with DS and its possible association with development of hypothyroidism during childhood.
TSH levels from neonatal screening of 73 children (34 F) with...
Blood dried on filter paper is widely used for screening of inherited metabolic disorders (1). In Sweden, such filters from all newborns have been permanently stored since 1975. It has been shown that proteins and DNA may be recovered from these cards after extended periods of storage (2)(3)(4). RNA, however, has been considered too vulnerable to d...
Unlabelled:
The aim of this study was to investigate if an open ductus venosus representing a portal-caval shunt can lead to transient "alimentary galactosaemia" in preterm infants fed human breast milk. Twenty-six preterm infants (28-34 wk of gestational age) with open ductus venosus were included. Capillary blood samples for measurement of galac...
The prevalence of the 985A>G mutation in the medium-chain acyl-CoA dehydrogenase gene was determined in the Swedish population. A heterozygote frequency of 1:127 was observed. Morbidity data indicate that most of the homozygotes with this mutation are not diagnosed and probably remain asymptomatic.
The aim of this study was to evaluate the benefits of neonatal screening for congenital adrenal hyperplasia (CAH).
All children with CAH born in Sweden from January 1989 to December 1994 were subjected to a systematic follow-up. Clinical symptoms were recorded and laboratory data collected. The clinical diagnosis versus diagnosis by screening was i...
Carbohydrate-deficient isoforms of transferrin (CDT) were examined in Guthrie cards from patients with galactosaemia before and during dietary treatment for up to 9 y. In untreated patients the CDT values were elevated due to abnormal asialo- and/or disialotransferrin. During treatment, the CDT levels were normal except on a few temporary occasions...
All newborns in Sweden are screened for phenylketonuria (PKU), among other things, blood usually being sampled by heel lancing. Because it is unnecessarily painful, however, this form of sampling in newborns has recently been questioned. There is reason to recommend sampling from a dorsal hand vein as the method of choice for PKU screening purposes...
Many antiepileptic drugs induce hepatic metabolic enzymes and thus enhance metabolism of steroid and thyroid hormones. Antiepileptic drugs readily cross the placenta and the foetal liver is metabolically active. We therefore evaluated the neonatal screening results of TSH and 17-hydroxyprogesterone in 34 study children and their matched controls. T...
Congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency can be detected by newborn screening. The screening alone in 29 programs from 13 countries resulted in the diagnosis of CAH in 1 2 of affected newborns and expedited the diagnosis in 1 3 of affected newborns clinically suspected to have CAH. The benefits of newborn screening for...
Using filter paper blood samples, 557,000 newborn infants were screened for congenital adrenal hyperplasia (CAH). 17-Hydroxyprogesterone was determined by radioimmunoassay without organic solvent extraction. By the use of gestational age-related cut-off limits the false positive rate could be decreased to less than 0.03% (1:4000). Two thirds of the...
Citations
... While the incidence remained constant, the implementation of LC-MS/MS mostly impacted on the recall rate, significantly improving the PPV. It is well known that false positives, mostly preterms, affect greatly the CAH newborn screening procedures based only on fluoroimmunoassay 17-OHP determination [12,34,35]. Previous studies recommend a recall rate between 0.5% and 1%, suggesting the adjustment of the 17-OHP cut-off level either in relation to GA or to BW [36]. ...
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... The prevalence of 21OHD as well as its mutation pattern varies among different ethnic populations [5]. The overall worldwide frequency of CAH is estimated to be about 1 per 15,000 live births [6], having higher rates in some Arab countries, for example, 1 : 6400 in Saudi Arabia [7], 1 : 9030 in the United Arab Emirates [8], and 1 : 8000 in the northern part of Palestine [9]. To date there is no report about the incidence or prevalence of CAH among Iraqi people. ...
... Salt loss, dehydration and life threatening adrenal crisis. [1][2][3][4][5][6][7] It is known that preterm newborns have higher 17 OHP concentrations in serum. 1,3 Therefore, cut off levels are based on birth weight (BW) or on gestational age (GA). ...
... However, some diseases such as galactosemia are only included in a limited number of European NBS programs. This may be due to the (combination of) following reasons: (i) the disease can be diagnosed clinically, (ii) there is a high rate of false positives, and finally (iii) long-term complications are common despite early diagnosis [35]. From a technical point of view, NBS for galactosemia [36] can be performed by measuring total blood galactose (TGAL) or by GALT activity assay, both on a DBS using a fluorometric assay. ...
... Congenital infection is an important cause of SNHL and many different congenital infections can cause SNHL including toxoplasmosis, rubella, syphilis, zika, HIV, and cytomegalovirus (CMV) [66,67]. Congenital cytomegalovirus (cCMV) is the most common congenital infection worldwide, and is the number one cause of non-genetic SNHL and a leading cause of central nervous system defects in newborns [68][69][70]. The number of children with cCMVrelated sequelae is similar to or greater than the number with better known conditions such as Down syndrome or spina bifida [71]. ...
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... As a result, the female/male ratio was equal in these populations. [16] Moreover, parental consanguinity rate among the patients was higher than the general population in Turkey (78% vs. 24%). [17] In the current study included 39 females and 25 males (female/male ratio was 1.56) and the frequency of consanguinity was found to be 65% in all cases and 59% in 21-OHD cases, and these rates were high in line with the literature data. ...
... p.Leu405Pro is a pathogenic variant that was first described in a Swedish population [49]. To date, one patient with a partial biotinidase deficiency, being a compound heterozygote c. ...
... It consists of a constellation of clinical signs and symptoms and associated with various forms of thyroid dysfunction (congenital/acquired). 2 Hypothyroidism accounts for about 28%. 3 The additive effects of both comorbid conditions lead to further amplification of the clinical problems in these children, the symptoms of which are often mistaken for the natural course of the disease. 3 The prevalence of hypothyroidism is more compared with hyperthyroidism. ...
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... Nevýhodou kapilárního odběru krve je možná příměs tkáňového moku s následným zkreslením výsledků. Je také diskutováno, zda není žilní odběr méně bolestivý [11]. Menší bolestivost žilního odběru je také důvodem tohoto typu odběru v KNTB. ...
... Although aberrant glycosylation has been reported in other subtypes of galactosemia (43,(56)(57)(58)(59)(60)(61)(62)(63), little is known about how loss of GALE affects glycan synthesis in human cells in the presence or absence of supplementary Gal. Here we show that GALE deletion dramatically affects glycoconjugate biosynthesis with greatly reduced Gal, GalNAc, and sialic acid content in cell-surface glycans of GALE Ϫ/Ϫ cells (Fig. 2, A and B), impacting both N-and O-linked glycoproteins (Fig. 3). ...
