Mucopolysaccharidosis Type-II with Pathognomonic Skin Appearance: A Case with Pebbling Sign

Mucopolysaccharidosis type-II (MPS-II) is an X-linked lysosomal storage disorder. Here, we report an 8-year-old boy with pebbling sign in the scapular region, coarse facies, claw hand, diastolic murmur, and hepatomegaly. With decreased iduronate-2-sulfatase activity and hemizygous mutation in the IDS gene, the diagnosis was MPS-II. Pebbling sign is a rare but pathognomonic sign of MPS-II

The outcome of 41 Late-Diagnosed Turkish GA-1 Patients: A Candidate for the Turkish NBS

Background: Glutaric aciduria type 1(GA-1) is an inherited cerebral organic aciduria. Untreated patients with GA-1 have a risk of acute encephalopathic crises during the first 6 years of life. In so far as GA-1 desperately does not exist in Turkish newborn screening (NBS) program, most patients in our study were late-diagnosed. / Method: This study included 41 patients diagnosed with acylcarnitine profile, urinary organic acids, mutation analyses in the symptomatic period. We presented with clinical, neuroradiological, and molecular data of our 41 patients. / Results: The mean age at diagnosis was 14.8 13.9 (15 days to 72 months) and, high blood glutaconic acid, glutarylcarnitine and urinary glutaric acid (GA) levels in 41 patients were revealed. Seventeen different mutations in the glutaryl-CoA dehydrogenase gene were identified, five of which were novel. The patients, most of whom were late-diagnosed, had a poor neurological outcome. Treatment strategies made a little improvement in dystonia and the frequency of encephalopathic attacks. / Conclusion: All GA-1 patients in our study were severely affected since they were latediagnosed, while others show that GA-1 is a treatable metabolic disorder if it is diagnosed with NBS. This study provides an essential perspective of the severe impact on GA-1 patients unless it is diagnosed with NBS. We immediately advocate GA-1 to be included in the Turkish NBS

Echocardiographic Evaluation of Left Ventricular Functions According to the Degree of Glycemic Control in Children with Type-1 Diabetes Mellitus

Aim: The aim of the study was the evaluation of the effects of glycemic control on cardiac functions in children and adolescents diagnosed with Type-1 Diabetes Mellitus (DM).Materials and Methods: Children with Diabetes type-1 were divided into two groups as moderate-controlled (MC) and poorly-controlled (PC) patients according to the glycemic control. The patients were evaluated in terms of conventional, 'pulsed' Doppler and tissue Doppler imaging (DDG) echocardiographic parameters for left ventricular systolic and diastolic function.Results: Thirty children were in the MC group, thirty children in the PC group and 30 in the control group. There were statistically significant differences between diabetic patients and control groups in terms of 'pulsed' and tissue Doppler echocardiographic parameters. Tissue Doppler parameters in the PC group showed, statistically significant elongation time of isovolumetric relaxation, isovolumetric contraction and significantly shortening time of ejection, as a result, a significant relationship was found between the left ventricle functions and metabolic control.Conclusion: Conventional and tissue Doppler echocardiography showed dysfunction of left ventricular function in children with type-1 DM. This study found that impairment of left ventricular diastolic functions may be directly related to glycemic control, and children with poor metabolic control have a higher risk of diabetic cardiomyopathy

Determination of pre-parturition and post-parturition behaviors of Norduz goats

The objective of this study was to determine of pre-parturition and post-parturition behaviors of Norduz Goats. Animal subjects consisted of 18 primiparous single-birth does aged 2-3 years. During the kidding time, the goats were recorded with digital video cameras for one hour pre parturition and 24 h post-parturition in order to register parturition traits. Twelve does (67%) gave birth while being recumbent and six (33%) while standing (P h, respectively. These results clearly suggest that in Norduz goats the parturition behavior occurs within four hours after the parturition, and also Norduz goats are observed to be having a normal maternal behavior regarding with investigated behavioral characteristics

Effects of the maternal behavior score (MBS) on weaning weight and litter survival in sheep

This study intends to describe the differences concerning maternal behavior score between the different genotypes and groups of the age of dam in less selected Norduz, Karakaş, and Ile-de- FrancexAkkaraman (G1)xKarakaş crosses, and also aims to determine the effects of Maternal Behavior Score (MBS) on weaning weight and survival of lambs in genotypes studied. Experimental subjects were 92 heads of the 2, 3 and 4 years-old of the Norduz, karakaş and Ile-de-FrancexAkkaraman (G1)xKarakaş crosses. The MBS was scored on a 5-point scale based on the distance a ewe retreats from her lambs when the shepherd is tagging them. Within 24 h of birth, maternal behavior score was evaluated, and survival of the lambs was calculated from birth to weaning and at the same time measured the weaning weight in lambs. We detected that in the ewes lambing the first time MBS were lower than those that they were lambed before (P < 0.01). Similarly, there were the significant differences between genotypes; less selected Norduz sheep had higher maternal behavior score than Karakaş and Ile-de-FrancexAkkaraman (G1)xKarakaş crosses (P < 0.01). The effects of the maternal behavior on weaning weight and survival of the lambs were not found, statistically. It is concluded that with intense improvement programs in genotypes, a reduction regarding maternal behavior score is observed. In other words, the intense improvement programs in extensive animal breeding reduce the maternal ability in sheep

The effect of feeding system on slaughter-carcass characteristics, meat quality, and fatty acid composition of lambs

In this study, we aimed to determine the slaughter-carcass characteristics, meat quality, and fatty acid composition in lambs raised under intensive and extensive conditions. The animal material consisted of 30 Norduz male lambs, with an average age of 171 days. The lambs were divided into two groups: concentrate-fed lambs (CO) and pasture-fed lambs (PS). The results showed that the CO lambs had heavier carcasses (<i>p</i><i>&lt;</i> 0.001), a higher dressing percentage (<i>p</i><i>&lt;</i> 0.001), and higher intramuscular fat (<i>p</i><i>&lt;</i> 0.01) than the PS lambs. It was determined that the longissimus thoracis muscle of the CO lambs had a lower ultimate pH and higher <i>L</i>* and water-holding capacity than the PS lambs. In this study, intramuscular fat (longissimus thoracis, semimembranosus, triceps brachii), subcutaneous and tail fat samples were used to evaluate the effect of feeding system on fatty acid composition. The polyunsaturated fatty acid to saturated fatty acid ratio (PUFA ∕ SFA) of intramuscular fat was found to be significantly higher in the CO group than in the PS lambs, while similar subcutaneous and tail fat results were found in both groups. Moreover, the PS lambs had a lower n6 ∕ n3 ratio and higher percentage of omega-3 than the CO lambs in all tissues studied (<i>p</i><i>&lt;</i> 0.05). Overall, the CO lambs have heavier and fattier carcasses with better meat quality traits than the PS lambs. However, the effects of feeding system have varying results based on the fatty acid composition of different types of fat deposits

The effect of feeding system on slaughter-carcass characteristics, meat quality, and fatty acid composition of lambs

In this study, we aimed to determine the slaughter-carcass characteristics, meat quality, and fatty acid composition in lambs raised under intensive and extensive conditions. The animal material consisted of 30 Norduz male lambs, with an average age of 171 days. The lambs were divided into two groups: concentrate-fed lambs (CO) and pasture-fed lambs (PS). The results showed that the CO lambs had heavier carcasses (p<0:001), a higher dressing percentage (p<0:001), and higher intramuscular fat (p<0:01) than the PS lambs. It was determined that the longissimus thoracis muscle of the CO lambs had a lower ultimate pH and higher L and water-holding capacity than the PS lambs. In this study, intramuscular fat (longissimus thoracis, semimembranosus, triceps brachii), subcutaneous and tail fat samples were used to evaluate the effect of feeding system on fatty acid composition. The polyunsaturated fatty acid to saturated fatty acid ratio (PUFA= SFA) of intramuscular fat was found to be significantly higher in the CO group than in the PS lambs, while similar subcutaneous and tail fat results were found in both groups. Moreover, the PS lambs had a lower n6 = n3 ratio and higher percentage of omega-3 than the CO lambs in all tissues studied (p<0:05). Overall, the CO lambs have heavier and fattier carcasses with better meat quality traits than the PS lambs. However, the effects of feeding system have varying results based on the fatty acid composition of different types of fat deposits

Feedlot performance and carcass characteristics of Norduz male kids

The aim of this study was to determine the feedlot performance and carcass characterşistics of Norduz male kids. The initial and final body weights and average daily weight gain of these animals during the feedlot feeding period were 18.6 kg, 26.1 kg and 133.3 g, respectively. During the fattening period, average daily concentrated feed consumption and feeding efficiency of these animals were 604 g/day per head and 5.6 kg, respectively. At the end of the fattening period, 10 heads of Norduz male kids were slaughtered in order to determine carcass characteristics. Slaughter weight, hot and cold carcass weights and dressing percetage were foun as 25.4 kg, 10.6 kg and 41.5 %, respectively. In this study; bone, muscle, subcutaneous fat and inter-muscular fat contents were found AS 38.9, 46.4, 3.7 AND 6.4 %, respectively

Transfusion from male-only versus female donors in critically ill recipients of high plasma, volume components

Objective: To reduce the incidence of transfusion-related acute lung injury (ALI), the American Association of Blood Banks recently recommended rapid implementation of strategies to minimize transfusion of high plasma volume components, fresh frozen plasma and apheresis platelets, from potentially alloimmunized donors, especially females. The objective of this study was to evaluate the effect of transfusing components from male-only vs. female donors on development of ALI, gas exchange, and outcome in critically ill patients. Design: In this retrospective case-control study, we identified patients who received high plasma volume components from male-only donors and compared them with patients matched by severity of illness, postoperative state, and number of transfusions but who received high plasma volume components from female donors. Setting: Four intensive care units at a tertiary medical center. Patients: Critically ill patients who received > 2 units of fresh frozen plasma or apheresis platelets. Interventions: None. Measurements and Main Results: From a database of 3,567 patients who received a total of 46,101 units of fresh frozen plasma and 6,251 units of apheresis platelets, we identified 112 patients who received three or more male-only donor components and 112 matched controls. Baseline characteristics, ALI risk factors, and development of ALI were similar between the two groups. Arterial oxygenation (Pao(2)/Fio(2)) worsened after the female (mean difference -52, 95% confidence interval -14 to -91, p = .008) but not after male-only donor product transfusion (mean difference 22, 95% confidence interval -23 to 67, p = .325). Male-only component recipients had more ventilator-free days (median 28 vs. 27, p = .006) and a trend toward lower hospital mortality rates (14% vs. 24%, p = .054). Conclusions: In critically ill recipients of high plasma volume components, gas exchange worsened significantly after transfusion of female but not male donor components. Prospective studies are needed to evaluate the effect of recommendations by the American Association of Blood Banks on outcome of transfused critically ill patients