Associations Between DGAT1/Alu1 Gene Polymorphismand Some Performance in Morkaraman andTushin Sheep

DGAT is a microsomal enzyme that plays a central role in the biosynthesis of cellular triacylglycerols. The DGAT1 gene, which is involved in fatty acid metabolism, is accepted as a candidate gene for improving meat quality characteristics in sheep. In Morkaraman and Tuj sheep, The objective of the current research was to examine the genotypes of the myostatin gene and reveal the associations between the genotypes and some performance traits such as birth weight, weaning weight, weaning age, average daily weight gain, and productivity. Genotypes were determined by the PCR-RFLP method using the Alu1 restriction enzyme, and the genotype frequencies of Morkaraman and Tushin sheep were found to be 50% and 53%; 38.7% and 38%; 11.3% and 9% for CC, CT, and TT in the DGAT1 locus, respectively. It was defined that the C and the T allele frequencies were determined as 69% and 31% for Morkaramans and 72% and 28% for Tuj sheep, respectively. It was observed that the distribution of the DGAT1 gene locus examined in both breed populations was in balance according to the HW genetic equilibrium test. The association analysis revealed no statistically significant impact of the DGAT1 gene polymorphism in exon 3 on birth weight, weaning weight, weaning age, productivity, and daily live weight gain (P>0.05). DGAT1 gene showed polymorphisms in Morkaraman and Tushin sheep and can be regarded as a genetic marker for both sheep breed selection according to the association analysis results

Early-onset neutropenia and mixed phenotype in ADA2 deficiency: diagnostic and therapeutic challenges

BackgroundAdenosine deaminase 2 deficiency (DADA-2) is an autoinflammatory syndrome caused by mutations in the ADA2 gene. ADA-2 functions as an enzyme in purine metabolism and is presumed to play roles in immune regulation. The clinical spectrum of DADA2varies widely, from vascular inflammation and immune dysregulation to hematological abnormalities, including pure red cell aplasia and hemophagocytic lymphohistiocytosis (HLH). This study aimed to describe the clinical, demographic, and immunological profiles of seven DADA-2 patients to broaden the understanding of its hematological and immunological manifestations and provide insight for early diagnosis and treatment strategies.MethodsData were collected from patient medical records at the Department of Pediatric Allergy and Clinical Immunology, Basaksehir Cam and Sakura City Hospital. The study included genetic analysis, flow cytometry for lymphocyte subpopulations, and ADA-2 enzyme activity measurement.ResultsSeven patients from five families were included, predominantly male, with an average symptom onset at 15 months. Hematological findings were present in all patients, with neutropenia observed at the initial presentation (100%). HLH developed in two patients, contributing to a higher mortality rate of 42.8%. Bone marrow analysis in affected patients revealed hypocellularity and marked T-cell infiltration, with fibrosis detected in one. Despite no evidence of viral triggers (EBV, CMV, VZV, Parvovirus B19), HLH occurred in two patients, suggesting a primary immune dysregulation. Inflammatory and immunodeficiency-related findings were also observed, suggesting a mixed phenotype as the most common presentation. Genotype-phenotype analysis showed that patients with undetectable ADA2 enzyme activity or loss-of-function mutations had more severe hematological involvement. In contrast, a patient with residual enzyme activity exhibited a mixed phenotype. Three patients underwent successful hematopoietic stem cell transplantation (HSCT), reversing disease manifestations.ConclusionOur findings reinforce that DADA2 can initially present as isolated neutropenia, and frequently exhibits a mixed phenotype encompassing hematologic, immunologic, and inflammatory features. HLH is a severe complication that may arise without infectious triggers. Genetic testing for ADA2 should be incorporated into diagnostic panels for congenital neutropenia to avoid delays in diagnosis. Genotype–phenotype correlations offer some prognostic insights, but residual enzyme activity may not fully predict disease severity, underscoring the need for individualized management

Lunapark deficiency leads to an autosomal recessive neurodevelopmental phenotype with a degenerative course, epilepsy and distinct brain anomalies

LNPK encodes a conserved membrane protein that stabilizes the junctions of the tubular endoplasmic reticulum network playing crucial roles in diverse biological functions. Recently, homozygous variants in LNPK were shown to cause a neurodevelopmental disorder (OMIM#618090) in four patients displaying developmental delay, epilepsy and nonspecific brain malformations including corpus callosum hypoplasia and variable impairment of cerebellum. We sought to delineate the molecular and phenotypic spectrum of LNPK-related disorder. Exome or genome sequencing was carried out in 11 families. Thorough clinical and neuroradiological evaluation was performed for all the affected individuals, including review of previously reported patients. We identified 12 distinct homozygous loss-of-function variants in 16 individuals presenting with moderate to profound developmental delay, cognitive impairment, regression, refractory epilepsy and a recognizable neuroimaging pattern consisting of corpus callosum hypoplasia and signal alterations of the forceps minor ('ear-of-the-lynx' sign), variably associated with substantia nigra signal alterations, mild brain atrophy, short midbrain and cerebellar hypoplasia/atrophy. In summary, we define the core phenotype of LNPK-related disorder and expand the list of neurological disorders presenting with the 'ear-of-the-lynx' sign suggesting a possible common underlying mechanism related to endoplasmic reticulum-phagy dysfunction

Lunapark deficiency leads to an autosomal recessive neurodevelopmental phenotype with a degenerative course, epilepsy and distinct brain anomalies.

LNPK encodes a conserved membrane protein that stabilizes the junctions of the tubular endoplasmic reticulum network playing crucial roles in diverse biological functions. Recently, homozygous variants in LNPK were shown to cause a neurodevelopmental disorder (OMIM#618090) in four patients displaying developmental delay, epilepsy and nonspecific brain malformations including corpus callosum hypoplasia and variable impairment of cerebellum. We sought to delineate the molecular and phenotypic spectrum of LNPK-related disorder. Exome or genome sequencing was carried out in 11 families. Thorough clinical and neuroradiological evaluation was performed for all the affected individuals, including review of previously reported patients. We identified 12 distinct homozygous loss-of-function variants in 16 individuals presenting with moderate to profound developmental delay, cognitive impairment, regression, refractory epilepsy and a recognizable neuroimaging pattern consisting of corpus callosum hypoplasia and signal alterations of the forceps minor ('ear-of-the-lynx' sign), variably associated with substantia nigra signal alterations, mild brain atrophy, short midbrain and cerebellar hypoplasia/atrophy. In summary, we define the core phenotype of LNPK-related disorder and expand the list of neurological disorders presenting with the 'ear-of-the-lynx' sign suggesting a possible common underlying mechanism related to endoplasmic reticulum-phagy dysfunction

Mortality from gastrointestinal congenital anomalies at 264 hospitals in 74 low-income, middle-income, and high-income countries: a multicentre, international, prospective cohort study

Summary Background Congenital anomalies are the fifth leading cause of mortality in children younger than 5 years globally. Many gastrointestinal congenital anomalies are fatal without timely access to neonatal surgical care, but few studies have been done on these conditions in low-income and middle-income countries (LMICs). We compared outcomes of the seven most common gastrointestinal congenital anomalies in low-income, middle-income, and high-income countries globally, and identified factors associated with mortality. Methods We did a multicentre, international prospective cohort study of patients younger than 16 years, presenting to hospital for the first time with oesophageal atresia, congenital diaphragmatic hernia, intestinal atresia, gastroschisis, exomphalos, anorectal malformation, and Hirschsprung’s disease. Recruitment was of consecutive patients for a minimum of 1 month between October, 2018, and April, 2019. We collected data on patient demographics, clinical status, interventions, and outcomes using the REDCap platform. Patients were followed up for 30 days after primary intervention, or 30 days after admission if they did not receive an intervention. The primary outcome was all-cause, in-hospital mortality for all conditions combined and each condition individually, stratified by country income status. We did a complete case analysis. Findings We included 3849 patients with 3975 study conditions (560 with oesophageal atresia, 448 with congenital diaphragmatic hernia, 681 with intestinal atresia, 453 with gastroschisis, 325 with exomphalos, 991 with anorectal malformation, and 517 with Hirschsprung’s disease) from 264 hospitals (89 in high-income countries, 166 in middleincome countries, and nine in low-income countries) in 74 countries. Of the 3849 patients, 2231 (58·0%) were male. Median gestational age at birth was 38 weeks (IQR 36–39) and median bodyweight at presentation was 2·8 kg (2·3–3·3). Mortality among all patients was 37 (39·8%) of 93 in low-income countries, 583 (20·4%) of 2860 in middle-income countries, and 50 (5·6%) of 896 in high-income countries (p<0·0001 between all country income groups). Gastroschisis had the greatest difference in mortality between country income strata (nine [90·0%] of ten in lowincome countries, 97 [31·9%] of 304 in middle-income countries, and two [1·4%] of 139 in high-income countries; p≤0·0001 between all country income groups). Factors significantly associated with higher mortality for all patients combined included country income status (low-income vs high-income countries, risk ratio 2·78 [95% CI 1·88–4·11], p<0·0001; middle-income vs high-income countries, 2·11 [1·59–2·79], p<0·0001), sepsis at presentation (1·20 [1·04–1·40], p=0·016), higher American Society of Anesthesiologists (ASA) score at primary intervention (ASA 4–5 vs ASA 1–2, 1·82 [1·40–2·35], p<0·0001; ASA 3 vs ASA 1–2, 1·58, [1·30–1·92], p<0·0001]), surgical safety checklist not used (1·39 [1·02–1·90], p=0·035), and ventilation or parenteral nutrition unavailable when needed (ventilation 1·96, [1·41–2·71], p=0·0001; parenteral nutrition 1·35, [1·05–1·74], p=0·018). Administration of parenteral nutrition (0·61, [0·47–0·79], p=0·0002) and use of a peripherally inserted central catheter (0·65 [0·50–0·86], p=0·0024) or percutaneous central line (0·69 [0·48–1·00], p=0·049) were associated with lower mortality. Interpretation Unacceptable differences in mortality exist for gastrointestinal congenital anomalies between lowincome, middle-income, and high-income countries. Improving access to quality neonatal surgical care in LMICs will be vital to achieve Sustainable Development Goal 3.2 of ending preventable deaths in neonates and children younger than 5 years by 2030

What puts women at risk of violence from their husbands? Findings from a large, nationally representative survey in Turkey.

A large, nationally representative, cross-sectional survey was conducted in Turkey in 2008. In this survey, which used the WHO (World Health Organization) study module on violence, information about lifetime and current violence (past 12 months) was obtained using weighted, stratified, and multistage cluster sampling. This article describes factors associated with physical or sexual violence experienced by ever-married women, aged 15 to 49, from their current or most recent husbands in the 12 months before the survey. Logistic regression analysis is used to describe the risk and protective factors from a considerable range of explanatory variables. The findings confirm that many factors are similar to the experiences of other countries. The physical or sexual violence experienced by ever-married women from their husbands was 15.1%. The violence experienced by women is significantly positively associated with early childhood abuse experiences of both women and their husbands; marriages decided by families or others; husband's behaviors such as drunkenness, adultery, controlling women's behavior, and preventing contact with women's family and friends. The age of the women, their contribution to the household income, support from women's families, women's acceptance of male authority, and nonpartner violence experience as well as regional differentials also affect the risk of violence. No significant associations were found with the employment status of women and men or education difference. This study, as one of the largest surveys ever conducted on the issue of domestic violence using face-to-face interviews, demonstrated how the patriarchal family structure still affects women's lives in Turkey. This is particularly significant, given Turkey's setting between traditional and modern values

Asymmetric solution-phase mixture aldol reaction using oligomeric ethylene glycol tagged chiral oxazolidinones

Sorting tags are oligomeric structures that can be used as protecting groups or chiral auxiliaries enabling solution-phase mixture syntheses of multiple tagged compounds in one pot and allowing for facile and predictable chromatographic separation of products at the end of synthetic sequences. Perfluorinated hydrocarbon and oligomeric ethylene glycol (OEG) derivatives are known classes of sorting tags. Herein we describe the preparation of OEGylated chiral oxazolidinones and their use in asymmetric solution-phase mixture aldol reactions. Through the use of such oxazolidinones based on tyrosine four different individually tagged aldol adducts were obtained as a mixture, chromatographically demixed, detagged, and it was shown that these processes gave the desired aldol products in good yield and enantioselectivity

An Electromagnetic Micro-Power Generator for Low Frequency Vibrations with Tunable Resonance

AbstractThis paper presents an electromagnetic (EM) micro-power generator with tunable resonance frequency which can harvest energy from low frequency environmental vibrations. The reported power generator up-converts low frequency environmental vibrations before mechanical-to-electrical energy conversion by utilizing two diaphragms with different resonance frequencies. Power is generated through electromagnetic induction by a magnet attached to the low frequency diaphragm, and a 50 turn, 2.1 asterisk coil, and a magnetic piece on the high frequency diaphragm. Both of the diaphragms are fixed to a common frame via rubber springs, which makes the resonance frequency of each diaphragm tunable. The fabricated prototype generates 5.2mV and 3.21 colonW RMS power by up-converting 13Hz, 7.5mm peak-to-peak vibrations to 200Hz. Tunability of the resonance frequency is experimentally verified by operating the same device at 2-30Hz external vibrations

Different presentations of cow’s milk protein allergy during neonatal period

Aktaş S, Ergenekon E, Ünal S, Türkyılmaz C, Hirfanoğlu İM, Atalay Y. Different presentations of Cow's milk protein allergy during neonatal period. Turk J Pediatr 2017; 59: 322-328. Cow`s milk protein allergy (CMPA) is the most common cause of allergy occurring in the first year of life due to infant formula or breast-milk of mothers who are drinking cow`s milk or eating cow's milk products. Most children with allergic colitis are symptomatic in the first months, usually by 4 weeks. There are rare cases whom were sensitized prenatally and demonstrated symptoms in the first week, even in the first 2 days of life. The most common clinical sign of CMPA is bloody stool in a well-appearing infant. Gross bloody stool or fecal occult blood are also the common signs of necrotizing enterocolitis (NEC), especially in preterm infants with systemic instability. The treatment options are totally different so the clinician has to be very careful evaluating the patient. We report 5 preterm cases of CMPA, two of whom were siblings. Two of them presented with massive bloody stools and 3 of them presented with abdominal distension and fecal occult blood all of which were initially considered as NEC. Literature review of 20 cases with similar history is summarized as well