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Irene Toldo, Claudia Maria Bonardi, Elisa Bettella, Roberta Polli, Giacomo Talenti, Alberto Burlina, Stefano Sartori, Alessandra Murgia
BACKGROUND: The ALDH7A1 gene is known to be responsible for autosomal recessive pyridoxine-dependent epilepsy (OMIM 266100). The phenotypic spectrum of ALDH7A1 mutations is very heterogeneous ranging from refractory epilepsy and neurodevelopmental delay, to multisystem neonatal disorder. AIM: The present study aims at describing the phenotype associated with a novel homozygous ALDH7A1 mutation and the spectrum of brain malformations associated with pyridoxine-dependent epilepsy...
July 3, 2018: European Journal of Paediatric Neurology: EJPN
Jingru Lu, Xiangzhong Zhao, Alessandro Paiardini, Yanhua Lang, Irene Bottillo, Leping Shao
BACKGROUND: Sixty mutations of claudin 16 coding gene have been reported in familial hypomagnesemia with hypercalciuria and nephrocalcinosis (FHHNC) patients. Recent investigations revealed that a highly conserved glycine-leucine-tryptophan (115 G-L-W117 ) motif in the first extracellular segment (ESC1) of claudin 16 might be essential for stabilization of the appropriately folded ECS1 structure and conservation of normal claudin 16 function. However, neither missense nor nonsense mutation has ever been described in this motif...
July 13, 2018: BMC Nephrology
Theresa Katharina Haidl, Marlene Rosen, Stephan Ruhrmann, Joachim Klosterkötter
In recent years an increased comorbidity of schizophrenic disorders with anxiety disorders has been reported. Thus, among patients with a disorder from the schizophrenia spectrum, a general anxiety disorder was found in 38.3 % of patients, with 14.9 % of these with social phobia (SP). Especially social anxiety (SA) is of particular importance because it is often associated with depression and can contribute to psychosocial disabilities in patients with psychosis.Anxiety disorders already seem to occur prior to the first psychotic manifestation in the clinical high-risk state (CHR)...
July 13, 2018: Fortschritte der Neurologie-Psychiatrie
Neruban Kumaran, Anthony G Robson, Michel Michaelides
PURPOSE: To report two siblings with NMNAT1-associated retinopathy presenting with a later onset and milder phenotype than previously described. METHODS: Retrospective case series of two siblings. The authors describe two cases of early-onset retinal dystrophy caused by disease-causing NMNAT1 variants. Visual acuity, clinical examination, and retinal imaging including color fundus photography, spectral domain optical coherence tomography, and fundus autofluorescence were performed...
July 11, 2018: Retinal Cases & Brief Reports
Yael Graif, Tamy Shohat, Yossy Machluf, Rivka Farkash, Yoram Chaiter
BACKGROUND: Epidemiological studies have reported an association between asthma and migraine, mainly in adults. OBJECTIVE: To examine the association between specialist-diagnosed asthma and migraine among adolescents. METHODS: The electronic database of a recruitment center was retrospectively searched for all 17-year-old draftees during the years 1987-2010. Diagnoses of asthma and migraine were made by certified specialists. The prevalence of migraine was compared among draftees with and without asthma...
July 13, 2018: Clinical Respiratory Journal
Olga V Sysoeva, John N Constantino, Andrey P Anokhin
Background: Inherited abnormalities of perception, recognition, and attention to faces have been implicated in the etiology of autism spectrum disorders (ASD) including abnormal components of event-related brain potentials (ERP) elicited by faces. Methods: We examined familial aggregation of face processing ERP abnormalities previously implicated in ASD in 49 verbal individuals with ASD, 36 unaffected siblings (US), 18 unaffected fathers (UF), and 53 unrelated controls (UC)...
2018: Molecular Autism
Tien-Jyun Chang, Wen-Chang Wang, Chao A Hsiung, Chih-Tsueng He, Ming-Wei Lin, Wayne Huey-Herng Sheu, Yi-Cheng Chang, Tom Quertermous, Yii-Der Ida Chen, Jerome I Rotter, Lee-Ming Chuang
The SORBS1 gene plays an important role in insulin signaling. We aimed to examine whether common single-nucleotide polymorphisms (SNPs) of SORBS1 are associated with prevalence and incidence of diabetes, age at onset of diabetes, and the related traits of glucose homeostasis. A total of 1135 siblings from 492 ethnic Chinese families were recruited at baseline, and 630 were followed up for 5.19 ± 0.96 years. Nine SNPs including rs7081076, rs2281939, rs3818540, rs2274490, rs61739184, rs726176, rs2296966, rs17849148, and rs3193970 were genotyped and examined...
July 12, 2018: Scientific Reports
Malindi van der Mheen, Ingrid M van Beynum, Karolijn Dulfer, Jan van der Ende, Eugène van Galen, Jorieke Duvekot, Lisette E Rots, Tabitha P L van den Adel, Ad J J C Bogers, Christopher G McCusker, Frank A Casey, Willem A Helbing, Elisabeth M W J Utens
BACKGROUND: Children with congenital heart disease (CHD) are at increased risk for behavioral, emotional, and cognitive problems. They often have reduced exercise capacity and participate less in sports, which is associated with a lower quality of life. Starting school may present more challenges for children with CHD and their families than for families with healthy children. Moreover, parents of children with CHD are at risk for psychosocial problems. Therefore, a family-centered psychosocial intervention for children with CHD when starting school is needed...
July 12, 2018: BMC Pediatrics
Pilar León, Daniela Cardemil, Rocío Osorio, Camila Peña, Ximena Valladares, Bárbara Puga, María Elena Cabrera
BACKGROUND: The first line treatment for patients < 40 years old with aplastic anemia (AA) is allogeneic HLA-identical sibling donor transplantation (SCT). Immunosuppressive therapy (IST) with a combination of Thymoglobuline (ATG) and cyclosporine is used for older patients or those without a donor. Five year overall survival (OS) for both therapies is > 70%. AIM: To report the experience with SCT and ATG for AA in a public hospital. PATIENTS AND METHODS: AA was diagnosed in 42 patients between 1998 and 2016, according to Camitta criteria...
February 2018: Revista Médica de Chile
José A Zepeda, Amando Bautista, Marylin Rangassamy, Raquel Monclús, Celine Bocquet, Margarita Martínez-Gómez, Patrick Gouat, Christophe Féron, Robyn Hudson, Heiko G Rödel
We asked whether within-litter differences in early body mass are associated with differences in house mouse pups' thermogenic performance and whether such variation predicts individual differences in competitive interactions for thermally more advantageous positions in the huddle. We explored pups' thermogenic performance in isolation by measuring changes in (maximal) peripheral body temperatures during a 5-min thermal challenge using infrared thermography. Changes in peripheral body temperature were significantly explained by individual differences in body mass within a litter; relatively lighter individuals showed an overall quicker temperature decrease leading to lower body temperatures toward the end of the thermal challenge compared to heavier littermates...
July 11, 2018: Developmental Psychobiology
Sanne Roelofs, Ilse van Bommel, Stephanie Melis, Franz J van der Staay, Rebecca E Nordquist
In commercial pig farming, an increasing number of low birth weight (LBW) piglets are born, due to selection for large litter sizes. While LBW piglets have a higher risk of pre-weaning mortality, a considerable number of these piglets survive to slaughter age. In humans, LBW is a risk factor for long-term cognitive impairments. In pigs, studies examining the post-weaning effects of LBW on cognition have reported contradictory results. Therefore, the current study aimed to assess the effects of LBW on cognitive development in pigs using an improved study design, by (1) testing a larger sample size than previous studies, (2) assessing acute and chronic stress responses to account for a potential altered stress response in LBW pigs, and (3) testing both female and male pigs to account for potential confounding effects of sex...
2018: Frontiers in Veterinary Science
Qi Zhao, Wenxin Chen, Jiayi Bian, Hao Xie, Ying Li, Chenxi Xu, Jun Ma, Siyi Guo, Jiaying Chen, Xiaofeng Cai, Xiaoli Wang, Quanhua Wang, Yimin She, Sixue Chen, Zhiqiang Zhou, Shaojun Dai
Elevated temperatures limit plant growth and reproduction and pose a growing threat to agriculture. Plant heat stress response is highly conserved and fine-tuned in multiple pathways. Spinach ( Spinacia oleracea L.) is a cold tolerant but heat sensitive green leafy vegetable. In this study, heat adaptation mechanisms in a spinach sibling inbred heat-tolerant line Sp75 were investigated using physiological, proteomic, and phosphoproteomic approaches. The abundance patterns of 911 heat stress-responsive proteins, and phosphorylation level changes of 45 phosphoproteins indicated heat-induced calcium-mediated signaling, ROS homeostasis, endomembrane trafficking, and cross-membrane transport pathways, as well as more than 15 transcription regulation factors...
2018: Frontiers in Plant Science
Guido van den Thillart, Inger Wilms, Maaike Nieveen, Roy E Weber, Frans Witte
Broods of the Lake Victoria cichlid Haplochromis ishmaeli raised under hypoxic and normoxic conditions, showed striking differences in isohemoglobin (isoHb) pattern not observed in two other cichlids that do not belong to the Lake Victoria species flock (Rutjes et al , 2007). We therefore hypothesized that the adaptive mechanism seen in H. ishmaeli in response to hypoxia constitutes a trait the Lake Victoria species flock inherited from ancestors that lived in hypoxic environments. We tested this hypothesis by designing split-brood experiments with three other representative species from the same species flock: the insectivorous Haplochromis thereuterion , the mollusc shelling Platytaeniodus degeni and the zooplanktivorous Haplochromis piceatus , while keeping H...
July 11, 2018: Journal of Experimental Biology
Boon Yew Tan, Luokai Wang, Mahesh Uttamchandani, Hector Barajas-Martinez, Robert Dumaine, Nathalie Morin, Chi Keong Ching, Kah Leng Ho, Daniel Thuan Tee Chong, Weien Chow, Eric Peng Huat Yap, Shabbir Moochhala, Dan Hu, Rita Yu Yin Yong, Wee Siong Teo
INTRODUCTION: Mutations within SCN5A are found in a significant proportion (15-30%) of Brugada syndrome (BrS) cases and impair sodium transport across excitable cardiac cells that mediate ventricular contractions. Genetic testing offers a means to clinically assess and manage affected individuals and their family members. METHODS AND RESULTS: The proband at age 44 years old exhibited a syncopal event during exercise, and presented later with a spontaneous type-I BrS pattern on 12‑lead resting electrocardiogram (ECG)...
July 2018: Journal of Electrocardiology
Yılmaz Kor, Minjing Zou, Roua A Al-Rijjal, Dorota Monies, Brian F Meyer, Yufei Shi
BACKGROUND: Congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency (21OHD) is an autosomal recessive disorder caused by mutations in the CYP21A2. Congenital nephrogenic diabetes insipidus (NDI) is a rare X-linked recessive or autosomal recessive disorder caused by mutations in either AVPR2 or AQP2. Genotype-phenotype discordance caused by genetic mosaicism in CAH patients has not been reported, nor the concomitant CAH and NDI. CASE PRESENTATION: We investigated a patient with concomitant CAH and NDI from a consanguineous family...
July 11, 2018: BMC Medical Genetics
Yiming Lin, Chunmei Lin, Weihua Lin, Zhenzhu Zheng, Mingya Han, Qingliu Fu
BACKGROUND: Methylmalonic acidemia (MMA) is an autosomal recessive inherited disorder caused by complete or partial deficiency of the enzyme methylmalonyl-CoA mutase (mut0 enzymatic subtype or mut- enzymatic subtype, respectively); a defect in the transport or synthesis of its cofactor, adenosyl-cobalamin (cblA, cblB, or cblD-MMA); or deficiency of the enzyme methylmalonyl-CoA epimerase. The cblA type of MMA is very rare in China. This study aimed to describe the biochemical, clinical, and genetic characteristics of two siblings in a Chinese family, suspected of having the cblA-type of MMA...
July 11, 2018: BMC Medical Genetics
Saba Sheikhbahaei, Roya Sherkat, Nadezhda Camacho-Ordonez, Razie Khoshnevisan, Asadollah Kalantari, Mansour Salehi, Seyed Saman Nazemian, Mohammad Hossein Nasr-Esfahani, Christophe Klein
BACKGROUND: Patients with primary immunodeficiency disease (PID) who survive to adulthood and willing to have a child mostly are worried whether their disease affects their fertility and/or pregnancy and also if their child would be predisposed to PID. CASE PRESENTATION: We report the outcome of conception, pregnancy and their management in 9 families with definite diagnosis of PID. A chronic granulomatous disease subject with an uneventful pregnancy developed fungal sacral osteomyelitis few weeks after delivery...
July 11, 2018: BMC Pregnancy and Childbirth
Dimitrios T Papadimitriou, Christina Bothou, Diagoras Zarganis, Maria Karantza, Anastasios Papadimitriou
The first and rate-limited step of steroidogenesis in all steroidogenic tissues is the conversion of cholesterol to pregnenolone, catalysed by P450scc side-chain cleavage enzyme (CYP11A1 gene-SCC). SCC deficiency has been characterised as an autosomal recessive disorder, although it may also be inherited as an autosomal dominant trait in humans. Here, we describe a family of three members carrying the same novel heterozygous CYP11A1 mutation, a c.235G > A missense variant in exon 1: pVal79Ile. A 46 XY boy (P1) was presented at the age of 3 months with early onset adrenal insufficiency and life-threatening failure to thrive, with low adrenal androgens but normal external genitalia...
July 11, 2018: Hormones: International Journal of Endocrinology and Metabolism
Jing Liu, Yuhang Wang, Yong Li, Jun Fu, Jiangyun Li, Hanqing Lu
Semantic segmentation and single-view depth estimation are two fundamental problems in computer vision. They exploit the semantic and geometric properties of images, respectively, and are thus complementary in scene understanding. In this paper, we propose a collaborative deconvolutional neural network (C-DCNN) to jointly model these two problems for mutual promotion. The C-DCNN consists of two DCNNs, of which each is for one task. The DCNNs provide a finer resolution reconstruction method and are pretrained with hierarchical supervision...
March 20, 2018: IEEE Transactions on Neural Networks and Learning Systems
Ming Wai Wan, Jonathan Green, Jordan Scott
Social communicative precursors to autism spectrum disorder may influence how infants who are later diagnosed with autism spectrum disorder interact with their social partners and the responses they receive, thus bidirectionally influencing early social experience. This systematic review aimed to identify a developmental timeline for parent-infant interaction in the first 2 years of life in at-risk infants and in emergent autism spectrum disorder, and to examine any parent-infant interaction associations with later social-communicative outcomes...
July 1, 2018: Autism: the International Journal of Research and Practice
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