Heritability and environmental influence on pre-weaning traits in Kilis goats.

Birth and weaning weights, average daily weight gain, and Kleiber ratio are important indicator traits in selection decision. The phenotypic expression of these traits is determined by the genetic background, environmental effects, and their interactions. The objective of this study was to estimate genetic parameters regarding birth (BW) and weaning weights (WW) and average daily weight gain (ADWG), Kleiber ratio (KR), and obtain the effects of sex, birth type, herd, and year. The data consisted of 2274 Kilis goats with pedigree information obtained from 53 bucks and 774 does in 4 generations. The restricted maximum likelihood (REML) procedure was conducted with an animal linear mixed model. Sex, birth type, herd, and year were found to be statistically significant (p value < 0.001) for all traits. Moderate direct heritabilities (ha2) for BW, WW, ADW, and KR were found to be as 0.18 ± 0.03, 0.50 ± 0.04, 0.47 ± 0.04, and 0.37 ± 0.05, respectively. The proportion of maternal permanent environmental effect (c2) to the total phenotypic variance (σ2p) was estimated as 0.00 ± 0.00, 0.12 ± 0.02, 0.11 ± 0.02, and 0.18 ± 0.03 for BW, WW, ADWG, and KR, respectively. The genetic, phenotypic, and environmental correlations between the pre-weaning growth traits were found to be ranging from - 0.02 to 0.99. Thus, our study suggests moderate heritabilities and positive and relatively high genetic correlations among the observed pre-weaning growth traits. These results have implications in terms of providing rapid genetic progress for these traits in breeding programs of Kilis goats.

Association of Maternal Vitamin B12 Status With Infant Findings and Neurodevelopment in Vitamin B12-Deficient Breast-fed Babies.

Few studies have examined the association between maternal vitamin B12 status and their breast-fed infants' findings. The objective of this study was to analyze the association of maternal B12 status with infant findings including neurodevelopmental outcome in breast-fed babies with B12 deficiency. Correlation analyses between the laboratory findings of infants with B12 deficiency (n=120) and their mothers were performed and the association of maternal B12 status with infant findings including the Denver-II developmental screening test (DDST II) results was examined. There was a significant correlation between infant and maternal B12 levels (r=0.222; P=0.030), and between infant and maternal homocysteine (Hcy) levels (r=0.390; P<0.001). Among the babies 4 months of age or older, maternal Hcy levels were significantly correlated with infant mean corpuscular hemoglobin (r=0.404; P=0.001) and infant mean corpuscular volume (r=0.461; P<0.001). Mothers of infants with abnormal DDST II had lower vitamin B12 (196.9±41.2 vs. 247.0±77.0 pg/mL; P=0.018) and higher Hcy levels (17.3±5.0 vs. 10.7±3.1 µmol/L; P<0.001) than mothers of infants with normal DDST II. A lower maternal vitamin B12 status may be related to impaired neurodevelopment in breast-fed infants with vitamin B12 deficiency. Pregnant and lactating women should be offered easy access to healthy nutrition and vitamin B12 supplements.

COVID-19-associated multisystem inflammatory syndrome in children: Experiences of three centres in Turkey.

BACKGROUND: The pathogenesis and clinical manifestations of the multisystem inflammatory syndrome in children (MIS-C) has not yet been fully elucidated and there is no clear consensus on its treatment yet. OBJECTIVES: To evaluate our patients diagnosed with MIS-C and present them to the literature in order to contribute to the better understanding of this new disease, which entered paediatric practice with the SARS-CoV-2 peak. METHODS: In this study, 17 MIS-C cases diagnosed according to the Centers for Disease Control and Prevention criteria were included. RESULTS: Of the patients, 7 (41.2%) had a comorbidity. Gastrointestinal system involvement was the most prominent in the patients (70.6%). Laparotomy was performed in 3 patients due to acute abdomen. Two patients had neurological involvement. Of the patients, 15 (88.2%) received intravenous immunoglobulin and 13 (76.5%) received both intravenous immunoglobulin and methylprednisolone. Two patients received invasive mechanical ventilation and 4 patients received high flow rate nasal cannula oxygen therapy. One of our patients who needed invasive mechanical ventilation and high vasoactive-inotrope support died despite all supportive treatments including plasmapheresis and extracorporeal membrane oxygenation. CONCLUSIONS: MIS-C picture can have a fatal course and may present with severe gastrointestinal and neurological signs. Unnecessary laparotomy should be avoided.

Tricuspid annular plane systolic excursion and mitral annular plane systolic excursion cardiac reference values in 1300 healthy children: Single-center results.

BACKGROUND: Tricuspid annular plane systolic excursion (TAPSE) and mitral annular plane systolic excursion (MAPSE) are two echocardiographic parameters which provide reliable information about the longitudinal myocardial functions of the right and left ventricles in both adult and pediatric population. The aim of this study was to determine the TAPSE and MAPSE reference values in healthy children aged 0-18 years. METHODS AND RESULTS: This prospective study included 1300 healthy children evaluated with two-dimensional echocardiography. In addition to routine echocardiographic examination, the right and left ventricular systolic functions were assessed by TAPSE and MAPSE measurements. Statistical analyses were carried out in the groups of subjects stratified according to age and body surface area. The mean and standard deviation values and z-scores of TAPSE and MAPSE were developed in each group. CONCLUSIONS: The determination of reference values for TAPSE and MAPSE in healthy children will be of guidance in the evaluation of both healthy children and those with congenital or acquired heart diseases in which the right and left ventricular systolic functions are affected. The reference values obtained will contribute to the clinical practice and the future studies.

An evaluation of heart rate variability and its modifying factors in children with type 1 diabetes.

OBJECTIVE: To evaluate heart rate variability by Holter monitoring in type 1 diabetic children compared with a healthy control group and determine the factors modifying heart rate variability. METHODS: This was designed as a prospective study comparing 28 patients, diagnosed with type 1 diabetes and under follow-up, with 27 healthy control group subjects. RESULTS: The patients were aged 9.9 ± 4.2 years in the diabetic group, including 13 (46.5%) girls and 15 (53.5%) boys. The healthy control group comprised 20 (74%) girls and seven boys (26%) with an average age of 8.6 ± 3.7 years. The search for factors modifying heart rate variability yielded the following correlations: for the time-dependent variables, negative between age and both average and maximal heart rate (r = -0.263 and -0.460, respectively), negative between haemoglobin A1c and percentage of differences between adjacent RR intervals >50 ms, positive between diabetes duration and square root of the mean of the sum of squares of differences between adjacent NN intervals. The average heart rate and percentage of differences between adjacent RR intervals >50 ms was significantly higher in the girls than the boys in all groups. With regard to the frequency-dependent factors affecting heart rate variability, correlations were found between haemoglobin A1c level and both total power and very low frequency (r = -0.751 and -0.644) and between very low frequency and diabetes duration. CONCLUSION: A reduction in heart rate variability parameters was observed in type 1 diabetes mellitus patients who had a long disease duration or were poorly controlled, as compared with healthy controls.

Strain and strain rate echocardiography findings in children with asymptomatic congenital aortic stenosis.

The aim of our study was to evaluate myocardial functions with strain/strain rate echocardiography in asymptomatic patients having congenital aortic stenosis (CAS) with normal cardiac functions as determined by conventional echocardiographic techniques and comparing them with those of healthy controls. A total of 58 patients with various degrees of isolated CAS and 52 healthy controls were enrolled in this study. Conventional and two-dimensional speckle tracking (2DSTE) echocardiography were performed. Global longitudinal strain (LS) (-23.1 ± 3.6 and -23.8 ± 4.7), and longitudinal strain rate (LSR) (-1.49 ± 0.32 and -1.76 ± 0.39) values were lower, whereas circumferential strain (CS) (-25.9 ± 4.7 and -22.8 ± 6.4) and circumferential strain rate (CSR) (-1.82 ± 0.46 and -1.69 ± 0.49) values were greater in the patient group than in the control subjects. The difference was significant for global LSR and CS (p < 0.05) values. Regional analysis showed lower LS values in the basal part of the left-ventricular (LV) free wall and lower LSR values in the basal parts of both of the septum and free wall in the patient group (p < 0.05). CS values in the anteroseptal, posterior, and inferior walls were significantly greater in the patients (p < 0.05). 2DSTE detects subtle alterations in myocardial function in asymptomatic children with CAS. Impairment of LV long-axis function occurred earlier and was more prominent in basal parts of the interventricular septum and the free wall of the left ventricle.

Acute rheumatic fever in the Central Anatolia Region of Turkey: a 30-year experience in a single center.

UNLABELLED: The study was carried out in Dr. Sami Ulus Children's Hospital to investigate and to compare the incidence and findings of acute rheumatic fever patients (ARF) seen in the past 30 years. The medical records of 1,115 patients with ARF admitted to Dr. Sami Ulus Children's Hospital Department of Pediatric Cardiology during 1980-2009 were retrospectively analyzed. Twenty-one percent of those patients were admitted between 1980 and 1989, 44.6% between 1990 and 1999, and 34.2% between 2000 and 2009. The highest incidence was detected in the second decade with a rate of 60.0:100,000. Male/female ratio was 1:18. The age of patients ranged between 2 and 15 years. Carditis was detected in 64.7% of patients, arthritis in 59.1%, and chorea in 14.1%. Mitral regurgitation was the most common echocardiographic finding. Heart failure was detected in 13.8%. Recurrent attacks occurred in 8.1% of patients. The median follow-up was 6.8 years (range, 1.2-10.5 years). The prevalence of chronic rheumatic valvular disease was 58%. Mortality rate was 0.8%. CONCLUSION: Although the incidence of ARF has decreased in the last decade, it still continues to be an important public health problem in Turkish pediatric population.

Hematological findings associated with neurodevelopmental delay in infants with vitamin B12 deficiency.

In adults with vitamin B12 deficiency, an inverse correlation between the severity of megaloblastic anemia and the degree of neurological dysfunction has been reported. We aimed to evaluate the association between hematological findings and the results of neurodevelopmental assessment in infants. Denver-II developmental screening test (DDST II) was performed in vitamin B12-deficient infants (n = 122), and its relationship with hematological findings was evaluated. DDST II was abnormal in 15 (12.3%), suspect in 20 (16.4%) and normal in 87 (71.3%) cases. Among the infants aged ≥ 4 months (n = 89), cases with an abnormal DDST II had lower levels of hemoglobin (7.49 ± 3.13 vs. 9.87 ± 1.77 g/dL; P = 0.015), whereas they had higher levels of mean corpuscular volume (MCV) (90.05 ± 19.31 vs. 69.90 ± 10.51 fL; P = 0.002), mean corpuscular hemoglobin (MCH) (28.96 ± 7.50 vs. 22.03 ± 4.58 pg; P = 0.001), homocysteine (44.31 ± 11.51 vs. 21.05 ± 9.23 µmol/L; P < 0.001), transferrin saturation index (25.84 ± 17.72 vs. 9.55 ± 6.38%; P = 0.004) and ferritin (87.28 ± 82.21 vs. 26.59 ± 31.67 ng/mL; P = 0.040) than those with a normal DDST II. The receiver operator characteristic analysis could distinguish infants with an abnormal DDST II from those with a normal DDST II by using a hemoglobin level < 8.75 g/dL [sensitivity: 71.4%, specificity: 76.4%; area under curve (AUC): 0.744], an MCV > 88.4 fL (sensitivity: 76.9%, specificity: 98.2%; AUC 0.813), an MCH > 28.5 pg (sensitivity: 76.9%, specificity: 96.4%; AUC: 0.822), and a homocysteine level > 27.35 µmol/L (sensitivity: 92.9%, specificity: 85.5%; AUC: 0.907). Even mild abnormalities of some commonly evaluated laboratory variables (such as MCV and MCH) in an infant should alert the physicians for the possibility of an underlying vitamin B12 deficiency with some degree of neurological impairment.

Severe vitamin B12 deficiency in a 15-year-old boy: presentation with haemolysis and pancytopenia.

A 15-year-old boy on a vegetarian diet presented with severe macrocytic anaemia (haemoglobin, 5.1 g/dL; mean corpuscular volume, 116 fL) in addition to leucopenia and thrombocytopaenia (pancytopenia), icterus secondary to haemolysis and splenomegaly. Laboratory investigations revealed severe vitamin B12 (cobalamin) deficiency. Following cobalamin replacement therapy, the patient reported increased well-being, including appetite and weight gain, and his icterus resolved. In the follow-up laboratory examinations, leucocyte and platelet counts in addition to serum bilirubin and lactate dehydrogenase levels normalised. At the end of 2 months, laboratory findings, including haemoglobin level, were all within the normal range. We present this case as a reminder that severe vitamin B12 deficiency may present with findings mimicking acute leukaemia (pancytopenia and splenomegaly) and findings suggestive of pseudothrombotic microangiopathy.

Assessment of left ventricular functions with tissue Doppler, strain, and strain rate echocardiography in patients with familial Mediterranean fever.

OBJECTIVE: This study assessed the early changes in regional and global systolic and diastolic myocardial functions in patients with familial Mediterranean fever without any cardiovascular symptoms using tissue Doppler and strain and strain rate echocardiography and compared them to the results of a control group. METHODS: This study has a cross-sectional and observational design. FMF patients with normal left ventricular function were included in the study. We excluded patients who had arrhythmia, acquired/congenital heart disease, pericarditis, or acute attack. We compared 45 children with familial Mediterranean fever on colchicine therapy and 45 age- and sex-matched healthy children. RESULTS: The 45 patients with familial Mediterranean fever included 24 (55.3%) girls and 21 (46.7%) boys with a mean age of 11.3 ± 3.7 (range 2-18) years. The mean disease duration was 4.6 ± 2.4 (range 0.5-10) years. In the patient group, the homozygous M694V mutation was the most common (64.4%) mutation. The patients with familial Mediterranean fever had statistically lower longitudinal global strain, radial global strain, and strain rates (-14.44 ± 4.77%, 14.80 ± 6.29%, and 0.59 ± 0.24 s, respectively) than the controls (-17.40 ± 1.79%, 17.53 ± 4.63%, and 0.83 ± 0.51 s) (p < 0.05). The circumferential global strain did not differ significantly between the groups. CONCLUSION: Patients with familial Mediterranean fever who are subclinical from a cardiac aspect might have normal left ventricular function as measured by conventional echocardiography. However, the disease affects their myocardial tissue, and these patients should be followed with conventional, strain, and strain rate echocardiography techniques regularly.

Endoscopic closure of an endoscope-related duodenal perforation using the over-the-scope clip.

Perforations of the duodenum are a significant source of morbidity in clinical practice. Surgical repair is usually mandated, but it is associated with significant morbidity and mortality. Until recently, there has been no technique available which reproducibly and safely allowed endoscopic closures of penetrating defects within the digestive tract. With the new over-the-scope clipping system", which regarding design and function is similar to a bear-trap, the endoscopic closure of perforations has become possible. Here, we report our first experience with the over-the-scope clipping system for the closure of duodenal perforation developed during endoscopic retrograde cholangiopancreatography. A 79-year-old woman with jaundice resulting from obstruction of the common bile duct caused by choledocholithiasis underwent endoscopic retrograde cholangiopancreatography. At the time of the procedure, an endoscope-related perforation measuring about 15 mm was visualized proximal to the papilla. Endoscopic repair was performed by using the over-the-scope clipping according to a standardized operating procedure. Amsterdam type plastic stent was placed into the common bile duct. An abdominal computed tomography with gastrographin showed a pneumoretroperitoneum in the peripancreatic-perirenal area and complete closure of the perforation. The patient remained symptom free, no signs of sepsis developed, and the obstructive jaundice was relieved by endoscopic biliary drainage. The patient was allowed to have a full diet one week later and was discharged from the hospital 2 weeks later. It seems that, the over-the-scope clipping is effective for endoluminal closure of endoscope-related duodenal perforations.

[Assessment of left ventricular functions with tissue Doppler, strain and strain rate echocardiography in children with juvenile idiopathic arthritis: An observational study]. / Juvenil idiyopatik artritli çocuklarda sol ventrikül fonksiyonlarinin doku Doppler, gerilme ve gerilme hizi ekokardiyografi ile degerlendirilmesi: Gözlemsel bir çalisma.

OBJECTIVE: In juvenile idiopathic arthritis (JIA) cardiac involvement is usually silent without typical symptoms. The purpose of this study was to assess left ventricular functions with tissue Doppler echocardiography (TDE), strain and strain rate in children with JIA. METHODS: Our study was designed as a cross-sectional observational study. Thirty pediatric patients with JIA and 30 age- and sex-matched healthy controls were studied. In addition to standard echocardiographic methods, tissue Doppler, strain and strain rate imaging's were performed to assess left ventricular functions in all participants. The means of variables that did not distributed normally were compared with Mann-Whitney U test. RESULTS: In patients with JIA, E' values of mid and apical regions of left ventricular lateral wall were significantly lower than those of the controls (15.76±3.24 vs 17.91±3.29 cm/s, 11.10±2.96 vs12.64± 2.42 cm/s, p<0.05). In longitudinal strain reflecting left ventricular regional systolic functions, apical-lateral, basal and mid-septum peak S values, lateral peak S values in circumferential strain (-17.30±6.22 vs -21.97±4.32, -18.23±4.62 vs -21.53±2.69, -20.35±3.75 vs -22.75±3.50, -9.68±7.12 vs -13.70±6.81 cm/s, p<0.05, r:0.42, 0.41, 0.42), in longitudinal strain reflecting diastolic functions, apical-lateral, mid-lateral, apical-septum, mid-septum peak E values (2.22±1.00 vs 3.17±0.87, 1.62±0.84 vs 2.15±0.72, 2.51±0.76 vs 3.31±0.87, 1.99±0.64 vs 2.47±0.57 cm/s, p<0.05, r:-0.39,-0.55,-0.43) and in circumferential strain lateral and posterior peak E values (1.32±0.83 vs 1.88±0.94, 1.31±0.71 vs 1.85±0.91 cm/s, p<0.05, r:-0.33, -0.22) were significantly lower than those of the controls. CONCLUSION: Although marked myocardial involvement was not detected with tissue Doppler imaging in JIA patients with subclinical cardiac disease, regional impairments in left ventricular strain and strain rates were found.