Search Results (8)

Chromosomal aberrations are rare but known causes of movement disorders, presenting with broad phenotypes in which dystonia may be predominant. During the investigation of such cases, chromosomal studies are not often considered as a first approach. In this article, the authors describe a family affected by a generalized form of dystonia, evolving from a focal phenotype, for which a new X chromosome large duplication was found to be the likely causative, therefore highlighting the role of such studies when facing complex movement disorders. Full article

Introduction: Our objective in this article was to develop a predictive model for obesity in the third trimester of pregnancy using the plasma and clinical biomarkers that are managed within the Chromosomopathies Programme in the Andalusian Public Healthcare System. Methods: The epidemiological design was observational, of the unmatched case–control type. The geographical environment was the Seville Primary Healthcare District (DSAP Sevilla). The information was collected between 2011 and 2021. The reference cohort consisted of women who had carried a pregnancy to term. The variables and biomarkers studied correspond to those managed within the primary-care Pregnancy Integrated Care Pathway (ICP). Unconditional binary logistic regression (BLR) models were created, with the outcome variable being whether or not the women were obese in their third trimester of pregnancy. Results: A total of 423 controls and 104 cases of obesity were obtained for women in their third trimester who had not been obese in their first trimester. The average age for the sample group (P50) was 34 years old. The final, most parsimonious model included the variables PAPP-A (p = 0.074), beta-hCG (p = 0.1631), and systolic blood pressure (SBP) (p = 0.085). ROC curve = 0.75 (C.I. at 95%: 0.63–0.86). Discussion: The results of this research can only be extrapolated to primary care and to pregnancies with no complications. PAPP-A has been shown in our research to be a significant predictor of obesity risk in the third trimester of pregnancies with no complications (OR = 0.53; C.I. at 95%: 0.39–0.66; p = 0.04 in the single-variant study; OR = 0.58; C.I. at 95%: 0.29–0.93; p = 0.074 in the multi-variant analysis). This predictive capacity is further enhanced from an operational perspective by beta-hCG and 12-week SBP. Full article

When an increased nuchal translucency (>3.00 mm) is observed during the echographic examination of a foetus in the first trimester of pregnancy, an increased risk of chromosomopathy is considered, and the pregnant woman is offered the possibility of an invasive investigation. Here, we focused our attention on prenatal diagnosis issues in cases of foetuses with cytogenetically balanced reciprocal translocations. We report the finding of a cytogenetically balanced, de facto genomically unbalanced translocation that poses a challenge in a case of prenatal diagnosis, changing the risk of Down syndrome in a Zellweger syndromic spectrum risk (PEX3 deletion). At term, a healthy baby was born. This case teaches that prenatal diagnosis in cases of foetuses at increased risk of chromosomal abnormality imperatively requires molecular investigation in addition to a morphological karyotype. Full article

Cell-free fetal DNA (cffDNA) analysis is a non-invasive prenatal diagnostic test with a fundamental role for the screening of chromosomic or monogenic pathologies of the fetus. Its administration is performed by fetal DNA detection in the mother’s blood from the fourth week of gestation. Given the great interest regarding its validation as a diagnostic tool, the authors have set out to undertake a critical appraisal based on a wide-ranging narrative review of 45 total studies centered around such techniques. Both chromosomopathies and monogenic diseases were taken into account and systematically discussed and elucidated. Not surprisingly, cell-free fetal DNA analysis for screening purposes is already rather well-established. At the same time, considerable interest in its diagnostic value has emerged from this literature review, which recommends the elaboration of appropriate validation studies, as well as a broad discourse, involving all stakeholders, to address the legal and ethical complexities that such techniques entail. Full article

Background: To assess multicystic dysplastic kidneys (MCDK) in children, their complications and associated congenital genitourinary anomalies. Methods: Children with unilateral MCDK, evaluated between 2012 and 2020, were analyzed. In this retrospective study, data were obtained from electronic and paper health care records. Results: There were 80 children included. Follow-up time was 8.0 +/− 5.2 years (mean +/− standard deviation). None of them had hypertension. In total, 43.8% of the children had associated congenital genitourinary anomalies, most commonly cryptorchidism and vesicoureteral reflux (VUR), and 6.3% of these children had chromosomopathy. All of them had normal kidney function except one child with dysplasia of the contralateral kidney. Urinalysis was normal in 90% of children. Extrarenal malformations occurred in 22.5% of them. We observed spontaneous involution of MCDK in 38.8% of children in the observed period. Nephrectomy was performed in 12.5% of children, at an average age of 2.0 years. Conclusions: Children with a unilateral MCDK have a very good prognosis if the contralateral kidney is normal. Associated congenital genitourinary anomalies are common. Cryptorchidism was found to be the most common associated anomaly among boys, which is unique for this study. Most of these children do not suffer from hypertension, kidney dysfunction or other complications. Full article

Children with complex medical issues often present different comorbidities that cause feeding difficulties. Gastrostomy is often helpful, and should be performed when nutritional supplementation is necessary for longer than 6 weeks. Recently, different techniques have been used for gastrostomy in children. The authors report on their experiences regarding the diagnostic and therapeutic management of children requiring gastrostomy. All patients managed in the last 10 years were reviewed, retrospectively. Everyone underwent investigation to exclude gastroesophageal reflux disease (GERD). A total of 148 patients: 111 cases (75%) were neurologically impaired patients, 18 (12%) had complex heart disease, 10 (6%) had metabolic diseases, 4 (3%) had fibrosis cystic, 4 (3%) had muscle disease, and one had chromosomopathy. After investigation, 49 patients had GERD. PEG was performed in 101 cases (68%), laparo-assisted gastrostomy was performed in 44 cases (29.7%), open gastrostomy was performed in three cases. At follow-up, all patients reported weight gain, but 13 cases had major complications. Currently, the surgeon has the possibility of choosing between several safe techniques for gastrostomy. In our experience, PEG is the most useful technique for patients without GERD, while a laparo-assisted technique is better for patients who require laparoscopic fundoplication. Full article

Autoimmune thyroid diseases (AITDs), including Hashimoto’s thyroiditis (HT) and Graves’ disease (GD), are the most common cause of acquired thyroid disorder during childhood and adolescence. Our purpose was to assess the main features of AITDs when they occur in association with genetic syndromes. We conducted a systematic review of the literature, covering the last 20 years, through MEDLINE via PubMed and EMBASE databases, in order to identify studies focused on the relation between AITDs and genetic syndromes in children and adolescents. From the 1654 references initially identified, 90 articles were selected for our final evaluation. Turner syndrome, Down syndrome, Klinefelter syndrome, neurofibromatosis type 1, Noonan syndrome, 22q11.2 deletion syndrome, Prader–Willi syndrome, Williams syndrome and 18q deletion syndrome were evaluated. Our analysis confirmed that AITDs show peculiar phenotypic patterns when they occur in association with some genetic disorders, especially chromosomopathies. To improve clinical practice and healthcare in children and adolescents with genetic syndromes, an accurate screening and monitoring of thyroid function and autoimmunity should be performed. Furthermore, maintaining adequate thyroid hormone levels is important to avoid aggravating growth and cognitive deficits that are not infrequently present in the syndromes analyzed. Full article

Background: Quantification of T-cell-receptor-excision circles (TRECs) and kappa-deleting-recombination-excision circles (KRECs) from dried blood spots (DBS) allows detection of neonates with severe T-cell and/or B-cell lymphopenia that are potentially affected by severe combined immunodeficiency (SCID), as well as X-linked agammaglobulinemia (XLA). Methods: Determination of TRECs and KRECs using a triplex RT-PCR (TRECS-KRECS-β-actin) assay from prospectively collected DBS between February 2014 and December 2016 in three hospitals in Seville, Spain. Cut-off levels were TRECs < 6/punch, KRECs < 4/punch and b-actin > 700/punch. Internal (SCID, XLA, ataxia telangiectasia) and external controls (CDC) were included. Results: A total of 8943 DBS samples obtained from 8814 neonates were analysed. Re-punching was necessary in 124 samples (1.4%) due to insufficient β-actin values (<700 copies/punch). Preterm neonates (GA < 37 weeks) and neonates with a BW < 2500 g showed significantly lower TRECs and KRECs levels (p < 0.001). Due to repeated pathological results, ten neonates were re-sampled (0.11%), of which five neonates (0.055%) confirmed the pathological results: one case was a fatal chromosomopathy (TRECs 1/KRECs 4); two were extreme premature newborns (TRECs 0/KRECs 0 and TRECs 1/KRECs 20 copies/punch); and 2 neonates were born to mothers receiving azathioprine during pregnancy (TRECs 92/KRECs 1 and TRECs 154/KRECs 3 copies/punch). All controls were correctly identified. Conclusions: Severe T- and B-cell lymphopenias were correctly identified by the TRECS-KRECS-β-actin assay. Prematurity and low BW are associated with lower TREC and KREC levels. Extreme prematurity and maternal immune suppressive therapy can cause false positive results of TRECs and KRECs values. Full article