Chile Crece Contigo: Implementation, results, and scaling-up lessons.

BACKGROUND: Chile Crece Contigo (ChCC) is defined as a comprehensive, intersectoral, and multicomponent policy that aims to help all children reach their full potential for development, regardless of their socio-economic status. METHODS: This case study was developed on the basis of grey literature review and key informants' interviews. RESULTS: ChCC behaves as a complex adaptive system that combines universal and targeted benefits for the more vulnerable starting since gestation and until the children are 4 years old. Three key ministries are involved in ChCC management: health, education, and social development. Studies show adequate programme implementation and positive effects of ChCC on child development. In addition, it was found that the more families use ChCC benefits and the longer the subsystem has been operating in the commune, the greater the positive effects. CONCLUSIONS: Strong political support based on principles of equity and child rights combined with strong evidence and funding commitment from government has been central to emergence, scaling up, and sustainability of ChCC. Further sustainability of ChCC will rely on firmly establishing a well-trained and compensated cadre of early child development professionals and paraprofessionals as well as an improved management and evaluation decentralized system.

Association of monocyte/HDL-C ratio with SYNTAX scores in patients with stable coronary artery disease.

PURPOSE: The aim of this study was to investigate the relationship between monocyte count/high density lipoprotein cholesterol (HDL-C) ratio (MHR) and the severity of coronary atherosclerosis, as assessed by the SYNTAX score (SXscore), in patients with stable coronary artery disease (CAD) undergoing coronary angiography. MATERIALS AND METHODS: A total of 428 patients were included in the study between March 2012 and February 2015. The SXscore was determined with baseline coronary angiography. An SXscore ≥ 23 was regarded as severe CAD by definition, and the patients were divided into two groups: those with low SXscores (< 23) and those with high SXscores (≥ 23). RESULTS: MHR and C-reactive protein (CRP) were significantly higher in patients with high SXscores (p < 0.001 and p < 0.001, respectively). Left ventricular ejection fraction (LVEF) was lower in the group with high MHR and high SXscores. The cutoff value of MHR that predicted a high SXscore was 24, with a sensitivity of 66 % and a specificity of 65.1 %. CONCLUSION: To the best of our knowledge, this is the first study in the literature showing that MHR is significantly associated with SXscores. Our results suggest that MHR can be used as a prognostic marker in patients with stable CAD, since it is an easily available and inexpensive test.

The clinical spectrum of a rare chromosomal abnormality: Isochromosome 18p.

Isochromosome 18p is a rare chromosomal disorder that occurs with a frequency of approximately one in every 180,000 live births, and affects both genders equally. MOst cases result from a de novo formation. In the literature, there are currently only a small number of reports that describe the phenotypic and clinical features of Isochromosome 18p. In this article, we report six cases that displayed the phenotypic and clinical features of Isochromosome 18p, and which were subsequently confirmed by conventional karyotyping and fluorescence in situ hybridization. We also discuss the clinical features of these patients in the context of the cases previously reported in the literature.

A MOLECULARLY CHARACTERIZED INTERSTITIAL DELETION ENCOMPASSING THE 11q14.1-q23.3 REGION IN A CASE WITH MULTIPLE CONGENITAL ABNORMALITIES.

Interstitial deletion of chromosome 11 long arm is a rare event. In most of the interstitial deletions on the long arm of chromosome 11 both the position and the size of these deletions are heterogeneous making a precise karyotype-phenotype correlation. In only a few of the reported cases has the deletion been molecularly characterized. Our patient was a 13-year-old male presented; mental motor retardation, strabismus, myopia, retinopathy, sensorineural hearing loss, a long and triangular face, a broad forehead, hypotelorism, nasal septal deviation, a beaked nose, hypoplastic ala nasie, bilateral low-set ears, a high arched palate, crowded teeth, retrognathia, thin lips, a long neck, and sloping shoulders, hyperactive behavior, pulmonary stenosis and lumbar scoliosis. Conventional cytogenetic analysis revealed 46,XY,del(11)(q14.1-q23.3) karyotype in the patient. Array-CGH analysis of the patient's DNA revealed an interstitial deletion encompassing 33.2 Mb in the 11q14.1-q23.3 genomic region (chr11: 83,161,443-116,401,751 ; Hg19). In this report, we present a patient with an interstitial deletion on the long arm of chromosome 11 that encompassed the 11q14.1-q23.3 region; and, using array-CGH analysis, we molecularly characterized the deleted region.

Ring chromosome 21 and monosomy 21 mosaicism in a patient with azoospermia.

In this report, we describe a patient with azoospermia in conjection with de novo ring chromosome 21 and monosomy 21 mosaicism. Inter-phase fluorescence in situ hybridisation (FISH) studies on uncultured peripheral blood and epithelial cells obtained by buccal smear revealed that 25% of the uncultured blood cells and 11% of the epithelial cells were monosomic for chromosome 21. Y chromosome microdeletion analysis ruled out the presence of any genomic deletions in the azoospermic factor a,b,c regions on the long arm of chromosome Y. Additionally, through subtelomeric FISH analysis, it was found that there was no deletion in the subtelomeric region of ring chromosome 21. Our results indicate that ring chromosome 21 is a rare, but recurrent chromosomal abnormality in male factor infertility. Furthermore, in individuals with ring chromosome 21, defective spermatogenesis is not associated with the deletion of any gene or genes located in the subtelomeric region of chromosome 21.

PRENATAL DIAGNOSIS OF DE NOVO PERICENTRIC INVERSION INV(2)(p11.2z13).

We here report a prenatal case with de novo pericentric inversion inv(2)(p11.2q13). A 20-years-old G1PO woman was referred for amniocentesis at 17 weeks of gestation, because of a positive second trimester screening test for aneuploidy. A de novo pericentric inversion inv(2)(p11.2q13) was detected during conventional cytogenetic analysis. Array-CGH analysis of the fetus showed no subtle chromosomal imbalances at the breakpoints. Genetic counseling was given to the family and the family decided to continue the pregnancy. To our knowledge, our case is the third prenatally detected de novo case with inv(2)(p11.2q13), and also the first case in which molecular karyotyping analysis were also applied.

PRENATAL DIAGNOSIS OF DE NOVO SUPERNUMERARY MARKER CHROMOSOME ORIGINATED FROM CHROMOSOME 16 BY ARRAY-CGH.

A 33 years-old pregnant woman was referred for amniocentesis at 19 weeks of gestation due to abnormal serum biochemistry. A non-satellited, monocentric marker chromosome was observed with a frequency of 50% in cultured amniocytes. Parental karyotypes were normal. The marker chromosome was found to be derived from chromosome 16 by FISH and array-CGH analysis. Genetic counseling was given to parents and the family decided to terminate the pregnancy. Dysmorphic findings including; low set ears, exophtalmos depressed nasal bridge, large mouth and lips, posture anomalies at the extremities were detected at autopsy.

22q11.2 syndrome due to maternal translocation t(18;22) (pl1.2;q11.2).

22q11.2 deletion syndrome is a pattern of malformations resulting from abnormalities during cephalic neural crest migration and during the development of the third and fourth branchial arch. It is also known as DiGeorge syndrome, as it is most often associated with a de novo 3 Mb hemizygous 22q11.2 deletion. The recognition of similarities and phenotypic overlap between DiGeorge syndrome and other disorders associated with genetic defects in 22q11 has led to an expanded description of the phenotypic features of this syndrome. Indeed, the extent of this phenotypic variability can often make it difficult to accurately diagnose DiGeorge syndrome. Tertiary monosomy resulting from the 3:1 segregation of the respective chromosomal segments of the chromosomes involved in a balanced translocation in meiosis is rarely reported in the literature. In this report, we present a female infant with dysmorphic facial features, microcephaly, a cleft palate, unilateral membranous choanal atresia, convulsions, hypocalcemia, semilobar holoporencephaly and echocardiographic abnormalities. To the best of our knowledge, this is the first description of a newborn displaying both DiGeorge syndrome and deletion 18p syndromes.

Prenatal diagnosis of isochromosome 21p and isochromosome 21q in a fetus with Down syndrome.

The aim of this study was to present the first case with Down syndrome in conjunction with de novo isochromosomes of both short and long arm of the chromosome 21. Cytogenetics, molecular cytogenetics and molecular genetic analysis were performed on chorionic villus sampling at 12 weeks of gestation of a 42-years-old pregnant woman. According to cytogenetics, molecular cytogenetics and molecular genetic analysis the karyotype was designated as: 47,XY,i(21) (qter --> q10::q10 --> qter),+i(21) (pter --> p10::p10 --> 10pter).ish i(21)(qter --> q10::q10 --> qter)(CEP13/21+,WCP21+),+i(21) (pter --> p10::p10 --> pter)(CEP13/21+,WCP21+). Quantitative Fluorescent Polymerase Chain Reaction (QF-PCR) analysis revealed that isochromosome 21q was maternal in origin. After the detailed genetic counseling, the family decided termination of the pregnancy. This is the first report of co-existence of an isochromosome 21p and an isochromosome 21q in a case with Down syndrome. Our case shows the importance of the molecular cytogenetics and molecular genetic analysis in cases with isochromosomes of the acrocentric chromosomes and supernumerary marker chromosomes regarding to highlight of the formation mechanisms of co-existence of these two rearrangements.

The effect of thrombolytic therapy on QT dispersion in acute myocardial infarction and its role in the prediction of reperfusion arrhythmias.

PURPOSE: We aimed to determine the effect of intravenous thrombolytic therapy on QT dispersion (QTd) and its role in the prediction of reperfusion arrhythmias. MATERIALS AND METHODS: Twenty patients with acute myocardial infarction (MI) were enrolled in the study. Measurements of QTd were carried out prior to thrombolytic therapy and before discharge. The patients were examined for ventricular arrhythmias with 24-h Holter electrocardiography monitoring after treatment and the relationship between ventricular arrhythmias and the QTd values in the early phase of MI was investigated. RESULTS: The values of QTd were significantly higher during the early phase of MI (60 ± 5.32 ms) than those in the late phase (53.35 ± 4.07 ms) (P = 0.032). There was no correlation between isolated, bigeminal, trigeminal and total ventricular premature beats, accelerated idioventricular rhythm (AIVR) with QTd values. However, the patients with sustained ventricular tachycardia (VT), prolonged VT and sustained AIVR had higher corrected QTd (92 ms 1/2 , 97.8 ms 1/2 , 81.7 ms 1/2 , respectively) than the patients without these arrhythmias (74 ms 1/2 , 56.3 ms 1/2 , 58.28 ms 1/2 , respectively) (P = 0.022, 0.013, 0.018). CONCLUSION: The values of QTd may be significantly reduced in the 1 st week of acute MI and measurement of QTd in the early phase of MI may have a correlation with the following reperfusion arrhythmias: Sustained VT, prolonged VT and AIVR.

The relationship between the serum uric acid/creatinine ratio and prognosis in patients with transcatheter aortic valve implantation.

OBJECTIVE: Aortic valve stenosis is a common valve disease in developed countries where the elderly population is high. Aortic valve stenosis is not a simple calcification; it is a dynamic process in which uric acid plays a serious role. We investigated the role of the serum uric acid/creatinine (SUA/Cr) ratio, which is an indicator of uric acid level independent of renal function, in determining the prognosis in patients who had undergone transcatheter aortic valve implantation (TAVI). PATIENTS AND METHODS: In this retrospective cohort study, 357 patients who underwent TAVI for symptomatic severe aortic stenosis between March 2019 and March 2022 were retrospectively analyzed. After applying exclusion criteria, the remaining 269 patients were included in the study. According to the Valve Academic Research Consortium criteria, major adverse cardiac and cerebrovascular events (MACCE) defined the endpoint of the study. Therefore, patients were divided into two groups: the MACCE group and the no MACCE group. RESULTS: Serum uric acid level was significantly higher in the MACCE group (7.0 ± 2.6) than in the no MACCE group (6.0 ± 1.7) (p = 0.008). SUA/Cr ratio was significantly higher in the MACCE group (6.7 ± 2.3) than in the no MACCE group (5.9 ± 1.1) (p = 0.007). CONCLUSIONS: The serum UA/creatinine ratio is important in determining the prognosis of patients undergoing TAVI.

A novel risk prediction tool for contrast-induced nephropathy in patients with chronic kidney disease who underwent diagnostic coronary angiography.

OBJECTIVE: The incidence of contrast-induced nephropathy (CIN) is higher than 20% in patients with chronic kidney disease. In this study, we sought to define the predictors of CIN and develop a risk prediction tool in patients with chronic kidney disease. PATIENTS AND METHODS: Patients aged 18 years and older who underwent invasive coronary angiography with an iodine-based contrast media between March 2014 and June 2017 were retrospectively analyzed. Independent predictors for CIN development were identified and a new risk prediction tool was created that included these predictors. RESULTS: In total, 283 patients included in the study were divided into those who developed CIN (n=39, 13.8%) and those who did not (n=244, 86.2%). Male gender (OR: 4.874, 95% CI: 2.044-11.621), LVEF (OR: 0.965, 95% CI: 0.936-0.995), diabetes mellitus (OR: 1.711, 95% CI: 1.094-2.677), and e-GFR (OR: 0.880, 95% CI: 0.845-0.917), were identified as independent predictors for the development of CIN in the multivariate analysis. A new scoring system has been designed that can score a minimum of 0 and a maximum of 8 points. Patients with a new scoring system score of ≥4 were at approximately 40 times higher risk of developing CIN than others (OR: 39.9, 95% CI: 5.4-295.3). The area under the curve value of CIN's new scoring system was 0.873 (95% CI, 0.821-0.925). CONCLUSIONS: We found that four easily accessible and routinely collected variables, including sex, diabetes status, e-GFR, and LVEF, were independently associated with the development of CIN. We believe that using this risk prediction tool in routine clinical practice may guide physicians to use preventive medications and techniques in high-risk patients for CIN.

Tertiary trisomy of 10p15.pter and 14pter.ql3 due to maternal translocation t(10;14)(p15;q13).

Double partial trisomy resulting from 3:1 segregation of the respective chromosomal segments of the chromosomes involved in a balanced translocation in meiosis is rarely reported in the literature. We present here a first patient with multiple congenital malformations associated with double partial trisomy of 10pter-p15 and 14pter-q13 resulting from 3:1 segregation of maternal balanced translocation t(10;14)(p15;q13). Proximal partial trisomy of chromosome 14 and subterminal trisomy of the short arm of the chromosome 10 are rare. The present case is the first case with double partial trisomy of these segments resulting from 3:1 segregation of a maternal balanced translocation.

Double partial trisomy of 6p23-pter and 9pter-q21.2 in a neonate resulting from 4:2 meiotic segregation of a maternal complex t(6;7;9)(p23;p15;q21.2) translocation.

We report, a newborn presenting multiple congenital abnormalities with karyotype; 47,XY,der(7)t(6;7)(pter-p23::p15-->qter),+der(9)t(7;9)(pter-->p15::q21.2--> pter)t(6;7;9)(p23;p15;q21.2)mat[20]. The mother and her phenotypically normal daughter were carriers of a complex chromosomal rearrangement with karyotypes; 46,XX,t(6;7;9)(p23;p15;q21.2)[20]. Paternal chromosomes were normal. In our case the extra derivative chromosome was the result of a 4:2 segregation of the chromosomes involved in translocation during oogenesis. Double partial trisomy in newborns resulting from 4:2 segregation is a rare event, and double partial trisomies of the 6p23-pter and trisomy 9pter-q22 regions have not reported to date.

Mosaic Intrachromosomal Triplication of (12)(p11.2p13) in a Patient with Pallister-Killian Syndrome.

Pallister-Killian syndrome (PKS) is a rare genetic disorder usually characterized by mosaic tetrasomy of isochromosome 12p detected in cultured fibroblast cells. We describe here a patient with PKS and intrachromosomal triplication of the short arm of chromosome 12. Her karyotype was mos 46,XX,inv trp(12)(p11.2p13)[34]/ 46,XX[16]de novo by conventional cytogenetics and fluorescent in situ hybridization (FISH) analysis. However, this chromosomal abnormality was not detected from the patient's cultured blood lymphocytes. We report here the third patient with intrachromosomal triplication on the short arm of chromosome 12, presenting a PKS phenotype.

De novo supernumerary marker chromosome originating from chromosome 17 resulting in a normal pregnancy outcome.

We report here a prenatal case with de novo supernumerary marker chromosome originating from chromosome 17 in non-mosaic form resulting in normal pregnancy outcome. In this case, a 26-year-old pregnant woman was referred for amniocenthesis and microdeletion Fluorescence In Situ Hybridization (FISH) testing at 18 weeks of gestation due to history of a previous child with Angelman Syndrome. PWS/AS region deletion was excluded by FISH. A de novo supernumerary, non-satellited, monocentric marker chromosome was detected during conventional cytogenetic analysis. With the use of FISH testing, it was found that the marker chromosome originated from chromosome 17. Additionally, the marker chromosome was found not to contain the Smith-Magenis and Miller Dieker syndrome regions. After detailed review of the literature, genetic counseling was given to the family, and the family decided to continue the pregnancy to term. A female child was born at term without any phenotypical abnormalities and clinical complications. Follow-up at 15 months-of-age revealed no developmental abnormalities. To our knowledge, our patient is the first reported prenatal case with a de novo monocentric, supernumerary marker chromosome derived from chromosome 17 in a non-mosaic form that resulting in normal pregnancy outcome.

Turner Syndrome with Isochromosome Xq and Familial Reciprocal Translocation t(4;16)(p15.2;p13.1).

We present here a 16-year-old Turner syndrome patient with a complex karyotype that includes a maternally-inherited balanced translocation between chromosomes 4 and 16 and mosaicism of the isochromosome Xq10. Her karyotype was 45,X,t(4;16) (p15.2;p13.1)[9]/46,X,i(X) (q10),t(4;16)(p15.2;p13.1) [91]. The karyotype of her father was normal, whereas that of her mother had the same balanced translocation and numerical abnormalities of chromosome X and was designated as 45,X,t(4;16)(p15.2;p13.1) [2]/46,XX,t(4;16)(p15.2;p13.1)[93]/47,XXX,t(4;16) (p15.2; p13.1)[5]. The two siblings of the patient also had the same reciprocal translocation. We consider this to be the first such patient with an inherited reciprocal translocation and structural abnormality of the X chromosome (isochromosome Xq).

A case with a rare chromosomal abnormality: isochromosome 18p.

Isochromosome 18p (i(18p)), is a rare chromosomal disorder that occurs once in about every 140,000 live births and affects males and females equally. Most of the cases are due to a de novo formation but in the literature familial cases were reported. Here, we report a young female with dysmorphic features as microcephaly, frontal bossing, strabismus, low-set ears, small pinched up nose, small mouth, high palate and long philtrum, presenting a small metacentric chromosome. Besides the dysmorphic features she also has gastroesophageal reflux, spasticity, strabismus and specific brain MRI findings as dilatation of the right lateral ventricle trigonum occipital horn (colpocephaly), thinning of the corpus callosum especially of the posterior part and abnormality of the white matter myelinisation at the frontal and occipital region. Particularly the MR findings are rarely reported in the literature.