Identification of a novel MICU1 nonsense variant causes myopathy with extrapyramidal signs in an Iranian consanguineous family
ConclusionsOur finding along with previous studies provides more evidence on the clinical presentation of the disease caused by pathogenic mutations inMICU1. Finding more variants and expanding the spectrum of the disease increases the diagnostic rate of molecular testing in screening of this kind of diseases and in turn improves the quality of counseling for at risk couples and helps them to minimize the risks of having affected children. (Source: Molecular and Cellular Pediatrics)
Source: Molecular and Cellular Pediatrics - May 9, 2021 Category: Cytology Source Type: research
Daratumumab therapy for post-HSCT immune-mediated cytopenia: experiences from two pediatric cases and review of literature
ConclusionReviewing the literature on the use of daratumumab for refractory AIC post-HSCT, we consider daratumumab a promising agent for this life-threatening disorder: ten of the twelve patients reached transfusion independency in the literature. However, treatment failures are likely to be underreported. Thus, controlled trials are needed to explore the safety and efficacy of daratumumab in this rare post-HSCT complication. (Source: Molecular and Cellular Pediatrics)
Source: Molecular and Cellular Pediatrics - April 29, 2021 Category: Cytology Source Type: research
Combined RT-qPCR and pyrosequencing of a Spike glycoprotein polybasic cleavage motif can uncover pediatric SARS-CoV-2 infections associated with heterogeneous presentation
ConclusionsThe proposed protocol allows a specific and sensitive confirmation of SARS-CoV-2 infections close to the detection limits of RT-qPCR. The tested biotinylated primers do not negatively affect the RT-qPCR pipeline and thus can be optionally applied to enable deeper inspection of RT-qPCR results by subsequent pyrosequencing. Moreover, due to the incremental transmission of SARS-CoV-2 variants of concern, we note that the used strategy can uncover (Spike) P681H allowing the pre-selection of SARS-CoV-2 B.1.1.7 candidate specimens for deep sequencing. (Source: Molecular and Cellular Pediatrics)
Source: Molecular and Cellular Pediatrics - April 24, 2021 Category: Cytology Source Type: research
Relationship between adiponectin, TNF α, and SHBG in prepubertal children with obesity
ConclusionsOur results suggest that plasma adiponectin levels may play a more important role than TNF α in influencing plasma SHBG levels in our prepubertal population with obesity. (Source: Molecular and Cellular Pediatrics)
Source: Molecular and Cellular Pediatrics - March 10, 2021 Category: Cytology Source Type: research
Molecular causes of congenital anomalies of the kidney and urinary tract (CAKUT)
AbstractCongenital anomalies of the kidney and urinary tract (CAKUT) occur in 0.5 –1/100 newborns and as a group they represent the most frequent cause for chronic kidney failure in children. CAKUT comprise clinically heterogeneous conditions, ranging from mild vesicoureteral reflux to kidney aplasia. Most forms of CAKUT share the pathophysiology of an impaired developmental in teraction of the ureteric bud (UB) and the metanephric mesenchyme (MM). In most cases, CAKUT present as an isolated condition. They also may occur as a component in rare multi-organ syndromes. Many CAKUT probably have a multifactorial etiology. Ho...
Source: Molecular and Cellular Pediatrics - February 24, 2021 Category: Cytology Source Type: research
Targeted deletion of Ruvbl1 results in severe defects of epidermal development and perinatal mortality
AbstractEpidermal development is a complex process of regulated cellular proliferation, differentiation, and tightly controlled cell death involving multiple cellular signaling networks. Here, we report a first description linking the AAA+ (ATPases associated with various cellular activities) superfamily protein Ruvbl1 to mammalian epidermal development. Keratinocyte-specificRuvbl1 knockout mice (Ruvbl1fl/flK14:Cretg) show a severe phenotype including dramatic structural epidermal defects resulting in the loss of the functional skin barrier and perinatal death. Thus,Ruvbl1 is a newly identified essential player for the dev...
Source: Molecular and Cellular Pediatrics - February 12, 2021 Category: Cytology Source Type: research
Asprosin in pregnancy and childhood
(Source: Molecular and Cellular Pediatrics)
Source: Molecular and Cellular Pediatrics - December 23, 2020 Category: Cytology Source Type: research
Impact of early-life diet on long-term renal health
AbstractIn the last years, great advances have been made in the effort to understand how nutritional influences can affect long-term renal health. Evidence has accumulated that maternal nutrition before and during pregnancy and lactation as well as early postnatal nutrition is of special significance. In this review, we summarize epidemiologic and experimental data on the renal effects of perinatal exposure to energy restriction, low-protein diet, high-fat diet, high-fructose diet, and high- and low-salt diet as well as micronutrient deficiencies. Interestingly, different modifications during early-life diet may end up wit...
Source: Molecular and Cellular Pediatrics - December 3, 2020 Category: Cytology Source Type: research
Evolving pituitary hormone deficits in primarily isolated GHD: a review and experts ’ consensus
AbstractIsolated growth hormone deficiency (GHD) is defined by growth failure in combination with retarded bone age, low serum insulin-like growth factor-1, and insufficient GH peaks in two independent GH stimulation tests. Congenital GHD can present at any age and can be associated with significant malformations of the pituitary-hypothalamic region or the midline of the brain. In rare instances, genetic analysis reveals germline mutations of transcription factors involved in embryogenesis of the pituitary gland and the hypothalamus. Acquired GHD is caused by radiation, inflammation, or tumor growth. In contrast to organic...
Source: Molecular and Cellular Pediatrics - November 3, 2020 Category: Cytology Source Type: research
Diagnostic and therapeutic odyssey of two patients with compound heterozygous leptin receptor deficiency
ConclusionOur case report illustrates the urgent necessity of early genetic diagnostics in children with severe early-onset obesity to avoid frustrating and potentially damaging therapies. Thus, genetic examination should precede bariatric surgery. In the future, several pharmacological therapies will be available for some forms of monogenetic obesity. (Source: Molecular and Cellular Pediatrics)
Source: Molecular and Cellular Pediatrics - November 3, 2020 Category: Cytology Source Type: research
A case of recurrent herpes simplex 2 encephalitis, VZV reactivations, and dominant partial interferon-gamma-receptor-1 deficiency supports relevance of IFNgamma for antiviral defense in humans
ConclusionsThis case further confirms an enhanced risk for viral disease in IFN γR-deficient patients and a role of interferon gamma for human antiviral defense. (Source: Molecular and Cellular Pediatrics)
Source: Molecular and Cellular Pediatrics - October 14, 2020 Category: Cytology Source Type: research
A role for the alpha-8 integrin chain (itga8) in glomerular homeostasis of the kidney
AbstractGlomerulonephritis results in a dysregulation of glomerular cells and may end up in chronic alterations and subsequent loss of renal function. Therefore, understanding mechanisms, which contribute to maintain glomerular integrity, is a pivotal prerequisite for therapeutic interventions. The alpha-8 integrin chain seems to be an important player to maintain glomerular homeostasis by conferring mechanical stability and functional support for the renal capillary tuft. (Source: Molecular and Cellular Pediatrics)
Source: Molecular and Cellular Pediatrics - September 30, 2020 Category: Cytology Source Type: research
Mutations of uncertain significance in heterozygous variants as a possible cause of severe short stature: a case report
ConclusionWe investigated the possible synergistic effects of these variations on exacerbation or masking of the signs and symptoms of GHI with the hope of providing a better understanding of these genes and their function through our rare case. (Source: Molecular and Cellular Pediatrics)
Source: Molecular and Cellular Pediatrics - September 15, 2020 Category: Cytology Source Type: research
Early clinical course after hematopoietic stem cell transplantation in children with juvenile metachromatic leukodystrophy
ConclusionsOur results show that if disease progression occurs, this happens early on after HSCT and proceeds faster than in non-transplanted children with juvenile MLD, indicating that HSCT may trigger disease progression. (Source: Molecular and Cellular Pediatrics)
Source: Molecular and Cellular Pediatrics - September 2, 2020 Category: Cytology Source Type: research
Nup133 and ER α mediate the differential effects of hyperoxia-induced damage in male and female OPCs
ConclusionsThese findings from a basic cell culture model establish prominent sex-based differences and suggest a novel mechanism involved in the differential response of OPCs towards oxidative stress. It conveys a strong message supporting the need to study how complex cellular processes are regulated differently in male and female brains during development and for a better understanding of how the brain copes up with different forms of stress after preterm birth. (Source: Molecular and Cellular Pediatrics)
Source: Molecular and Cellular Pediatrics - August 24, 2020 Category: Cytology Source Type: research
