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female triad

Øivind Skare, Rolv T Lie, Øystein A Haaland, Miriam Gjerdevik, Julia Romanowska, Håkon K Gjessing, Astanand Jugessur
Background: Although both the mother's and father's alleles are present in the offspring, they may not operate at the same level. These parent-of-origin (PoO) effects have not yet been explored on the X chromosome, which motivated us to develop new methods for detecting such effects. Orofacial clefts (OFCs) exhibit sex-specific differences in prevalence and are examples of traits where a search for various types of effects on the X chromosome might be relevant. Materials and Methods: We upgraded our R-package Haplin to enable genome-wide analyses of PoO effects, as well as power simulations for different statistical models...
2018: Frontiers in Genetics
Maria-Raquel G Silva, Hugo-Henrique Silva, Teresa Paiva
Sleep, body composition and dietary intake are crucial for athletes' health and performance but have never been investigated in acrobatic gymnasts. Thus, this study aimed to evaluate sleep, body composition, dietary intake and eating behaviours of acrobatic gymnasts. Using a cross-sectional study, 82 Portuguese acrobatic gymnasts (12.8 ± 3.1 years, 61 females and 21 males) were evaluated during the competitive period to collect training data, sleep duration, body composition, dietary intake and eating behaviours before, during and after practices...
March 3, 2018: European Journal of Pediatrics
Susan Carter
No abstract text is available yet for this article.
February 27, 2018: International Journal of Sport Nutrition and Exercise Metabolism
Beatriz Villafuerte, Daniel Natera-de Benito, Aidy González, María A Mori, María Palomares, Julián Nevado, Sixto García-Miñaur, Pablo Lapunzina, Luis I González-Granado, Luis M Allende, José C Moreno
Genetic defects of NKX2-1 are classically associated with hypothyroidism, benign chorea and neonatal respiratory distress. The purpose of this study was to identify the genetic pathogenesis of the "NKX2-1 triad" in a 10 year-old female presenting additional features barely described in the disorder. In the neonatal period, she presented with generalized hypotonia and respiratory distress, with later episodes of frequent wheezing. At 3 month-age developmental dysplasia of the hip was diagnosed and at 10 months, primary hypothyroidism was detected and treated...
February 22, 2018: European Journal of Medical Genetics
Juan Pablo Amaya, Juan Ignacio Areta
Tuco-tucos ( Ctenomys spp.) are subterranean rodents that produce territorial, high intensity long-range vocalizations (LRVs) of broadband and low frequency that are essential for long-distance communication between individuals in different tunnel systems. Despite their importance, the development of LRVs remains poorly understood. In adult Anillaco Tuco-Tucos ( Ctenomys sp.) the LRV is composed by two types of syllables (series and individual notes) that are repeated a variable number of times. We studied the development of the LRVs in eight juveniles of the Anillaco Tuco-Tuco ranging from 14-28 to 104-118 days after birth...
2018: PeerJ
A I Duarte, M S Santos, C R Oliveira, P I Moreira
Alzheimer's disease (AD) constitutes a major socioeconomic challenge due to its disabling features and the rise in prevalence (especially among (peri)menopausal women and type 2 diabetes patients). The precise etiopathogenesis of AD remains poorly understood. Importantly, its neurodegenerative perspective has been challenged towards a more "systemic" view. Amyloid-β (Aβ) and hyperphosphorylated Tau protein (P-Tau) (the main AD neuropathological features) affect and are affected by peripheral and brain insulin signalling dysfunction, leading to glucose dysmetabolism, synaptic loss and AD-related cognitive deficits...
February 19, 2018: Neuropharmacology
Li-Chuang Wu, Hai-Bo Zhou, Chao Zhang, Lei Chen, Cai-Long Liu
OBJECTIVE: To study clinical effects of triad operation including reconstruction of medial patellofemoral ligament, release of lateral retinaculum, Fulkerson tibial tubercle osteotomy, medial transfer and advancement under arthroscopy for the treatment of habitual dislocation of patella. METHODS: From March 2010 to May 2016, 35 patients with habitual patellar dislocation were treated with the triad operation, including 14 males, 21 females, ranging in age from 18 to 38 years old, with an average of 25...
November 25, 2017: Zhongguo Gu Shang, China Journal of Orthopaedics and Traumatology
S Fedele, P Lobascio, G Carbotta, G Balducci, R Laforgia, M G Sederino, M Minafra, A Delvecchio, N Palasciano
INTRODUCTION: Gallstone ileus is an uncommon condition of mechanical bowel obstruction caused by the passage of a gallstone into the bowel. It occurs more frequently in female patients older than 65 years and often for a biliary-enteric fistula. The pathognomonic features of gallstone ileus - the Rigler's triad - are pneumobilia, ectopic gallstone and bowel obstruction. Less commonly, a gallstone may enter the intestinal lumen through the common bile duct, after endoscopic retrograde cholangiopancreatography, and very rarely in colecistectomized patient...
November 2017: Il Giornale di Chirurgia
Erica Sanford, Kelly Watkins, Shareef Nahas, Michael Gottschalk, Nicole Coufal, Lauge Farnaes, David Dimmock, Stephen Kingsmore, Rcigm Investigators
Autoimmune polyendocrine syndrome type 1 (APS1; OMIM #240300), also referred to as autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED), is a rare monogenic disorder caused by mutations in the autoimmune regulator (AIRE) gene. APS1 is classically characterized by a triad of chronic mucocutaneous candidiasis, autoimmune hypoparathyroidism, and autoimmune adrenocortical insufficiency. We report a five-year-old female who presented with symptoms of tetany due to hypocalcemia and was subsequently found to be secondary to hypoparathyroidism...
February 1, 2018: Cold Spring Harbor Molecular Case Studies
Carolyn M Arnold, Paul J Bixenstine, Tina L Cheng, Megan M Tschudy
OBJECTIVE: While much research has addressed asthma medication adherence, few have combined quantitative and qualitative data, and none has addressed the triad of child, caregiver, and clinician simultaneously. This study assessed, with mixed methods, barriers to medication adherence within this triad. METHODS: We conducted interviews with publicly-insured children with asthma, their caregivers, and their primary-care clinicians. Children (7-17 years) had been prescribed daily inhaled corticosteroids and visited the ED for asthma (past year)...
February 8, 2018: Journal of Asthma: Official Journal of the Association for the Care of Asthma
Anneke de Boer, Karlijn Vermeulen, Jos I M Egger, Joost G E Janzing, Nicole de Leeuw, Hermine E Veenstra-Knol, Nicolette S den Hollander, Hans van Bokhoven, Wouter Staal, Tjitske Kleefstra
Background: Genetic mosaicism is only detected occasionally when there are no obvious health or developmental issues. Most cases concern healthy parents in whom mosaicism is identified upon targeted testing of a genetic defect that was initially detected in their children. A germline genetic defect affecting the euchromatin histone methyltransferase 1 (EHMT1) gene causes Kleefstra syndrome, which is associated with the typical triad of distinct facial appearance, (childhood) hypotonia, and intellectual disability...
2018: Molecular Autism
T Wing Lo, Christopher H K Cheng
This study was designed to explore the self and contextual factors for violence in two samples of school students and youth offenders in Macau. There were 3085 participants who were between 12 and 20 years old; 48.3% of them were male and 51.7% female. Findings revealed that youth offenders exhibited more violence than school students. For the self factors, while lower self-esteem and higher self-efficacy of school students were associated with more violent behavior, these two variables had no significant effects for youth offenders...
February 3, 2018: International Journal of Environmental Research and Public Health
Hassan El Khatib, Amal Naous, Soha Ghanem, Ghassan Dbaibo, Mariam Rajab
Guillain-Barre Syndrome, an acute flaccid paralysis known to be caused by recent Gastro-intestinal infections mainly campylobacter, and Respiratory infections mainly mycoplasma pneumoniae and influenza. One reported case of severe invasive pneumococcal disease in a 68 year old female, that presented with Austrian's triad of meningitis, pneumonia and endocarditis, and progressed to develop Guillain Barre syndrome, an association never been documented before. We present a case of 13 year old male, presented with hypoactivity and inability to bare his own weight, developed septic shock due to pneumococcus with Acute Respiratory Distress Syndrome, and was found to have neurological findings of Guillain-Barre Syndrome...
2018: IDCases
Joanna Bielewicz, Anna Szczepańska-Szerej, Magdalena Ogórek, Piotr Dropko, Katarzyna Wojtal, Konrad Rejdak
We reported the case of a patient with Wernicke-Korsakoff syndrome (WKs) as an early clinical manifestation of sporadic Creutzfeld-Jakob disease (sCJD). The 66-year-old female complained of dizziness and imbalance which mostly occurred while walking. A neurological examination revealed a triad of symptoms characteristic for WKs such as gaze paresis, ataxia of limbs and trunk as well as memory disturbances with confabulations. The disturbances increased during the course of the disease, which led to the death of the patient four months after the appearance of the signs...
February 9, 2018: Prion
Rene Ndongo, Paul Nkemtendong Tolefac, Faustin Félicien Mouafo Tambo, Matin Hongieh Abanda, Marcelin Ngowe Ngowe, Olivier Fola, Bonaventure Dzekem, Patrick Eroyl Weledji, Maurice Aurelien Sosso, Jacqueline Ze Minkande
OBJECTIVE: This study aimed to describe the clinical characteristics of patients with infantile hypertrophic stenosis, management and its outcome in two tertiary care centres in Cameroon. RESULTS: A total of 21 patients were included from the two centres. The mean age at presentation was 5.2 ± 1.2 weeks, predominantly male with a male-to-female ratio of 4.25:1. The triad of vomiting, visible peristalsis and palpable mass was present in only 7 (33.3%) of the participants...
January 16, 2018: BMC Research Notes
Fouad Al-Ghamdi, Partha S Ghosh
INTRODUCTION: Neuralgic amyotrophy (NA) is characterized by the clinical triad of pain, muscle weakness/atrophy and sensory symptoms. METHODS: We retrospectively identified children (≤18 years) over 15 years (2002-2017) from a single pediatric center. RESULTS: We had 22 patients (8 female; 6-18 years); pain was the presenting manifestation in all of them. Clinical weakness involving periscapular muscles was observed in 16 patients, scapular winging in 13...
January 9, 2018: Muscle & Nerve
J Andersson, M Rosell, K Kockum, L Söderström, K Laurell
Purpose: To evaluate the present diagnostic guidelines of idiopathic normal pressure hydrocephalus (iNPH) in a sample from the general population. Methods: A total of 168 individuals (93 females, 75 males), mean age 75 years (range 66-92) with and without symptoms of iNPH underwent a CT-scan of the brain, a neurological examination with assessment of the triad symptoms, i.e. gait disturbances, memory impairment and urgency incontinence. The participants were then diagnosed as "unlikely", "possible" and "probable" iNPH according to the American-European and the Japanese guidelines, respectively...
June 2017: ENeurologicalSci
Béla Birkás, András Láng, Norbert Meskó
Our study investigated the different mate preferences of the Dark Triad in women. In addition to former studies, we also examined the effect of self-evaluated attractiveness on these preferences. Attractiveness is a high-valued partner attribute, especially in short-term relationships. Accordingly, we predicted that women high in Dark Triad traits prefer characteristics related to short-term mating, because they possess traits favored in short-term relationships. Associations between ideal partner standards and Dark Triad traits were investigated with self-reports: 529 female undergraduate students filled out the Short Dark Triad and the Ideal Standards Scale...
February 2018: Psychological Reports
Maedbh Rhatigan, Caroline Byrne, Patricia Logan
Purpose: Spasm of the near reflex (SNR) is a triad of miosis, excess accommodation and excess convergence. Primary SNR is most often functional in origin We aim to highlight the clinical features which distinguish primary convergence from other conditions with a similar presentation but more sinister underlying aetiology, for example bilateral abducens nerve palsy. Observations: There is a paucity of published data on SNR, in particular diagnostic criteria and treatment...
June 2017: American Journal of Ophthalmology Case Reports
Emily Kroshus, J D DeFreese, Zachary Y Kerr
CONTEXT:   The female athlete triad (Triad) and relative energy deficiency in sport (RED-S) specify the consequences of energy imbalance. Athletic trainers (ATs) are positioned to identify athletes who are fueling themselves inadequately and experiencing related health and performance consequences. OBJECTIVE:   To assess the knowledge of collegiate ATs about the Triad and RED-S and to examine variability in related screening and referral behaviors among National Collegiate Athletic Association divisions...
December 18, 2017: Journal of Athletic Training
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