Sample records for dominant hypocalcemia caused
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Genetics Home Reference: autosomal dominant hypocalcemia
... individuals have features of a kidney disorder called Bartter syndrome in addition to hypocalcemia. These features can include ... sometimes referred to as autosomal dominant hypocalcemia with Bartter syndrome or Bartter syndrome type V. There are two ...
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Tenhola, Sirpa; Voutilainen, Raimo; Reyes, Monica; Toiviainen-Salo, Sanna; Jüppner, Harald; Mäkitie, Outi
2016-09-01
Autosomal dominant hypocalcemia (ADH) is characterized by hypocalcemia and inappropriately low PTH concentrations. ADH type 1 is caused by activating mutations in the calcium-sensing receptor (CASR), a G-protein-coupled receptor signaling through α11 (Gα11) and αq (Gαq) subunits. Heterozygous activating mutations in GNA11, the gene encoding Gα11, underlie ADH type 2. This study describes disease characteristics in a family with ADH caused by a gain-of-function mutation in GNA11. A three-generation family with seven members (3 adults, 4 children) presenting with ADH. Biochemical parameters of calcium metabolism, clinical, genetic and brain imaging findings were analyzed. Sanger sequencing revealed a heterozygous GNA11 missense mutation (c.1018G>A, p.V340M) in all seven hypocalcemic subjects, but not in the healthy family members (n=4). The adult patients showed clinical symptoms of hypocalcemia, while the children were asymptomatic. Plasma ionized calcium ranged from 0.95 to 1.14mmol/L, yet plasma PTH was inappropriately low for the degree of hypocalcemia. Serum 25OHD was normal. Despite hypocalcemia 1,25(OH)2D and urinary calcium excretion were inappropriately in the reference range. None of the patients had nephrocalcinosis. Two adults and one child (of the two MRI scanned children) had distinct intracranial calcifications. All affected subjects had short stature (height s.d. scores ranging from -3.4 to -2.3 vs -0.5 in the unaffected children). The identified GNA11 mutation results in biochemical abnormalities typical for ADH. Additional features, including short stature and early intracranial calcifications, cosegregated with the mutation. These findings may indicate a wider role for Gα11 signaling besides calcium regulation. © 2016 European Society of Endocrinology.
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Obermannova, Barbora; Sumnik, Zdenek; Dusatkova, Petra; Cinek, Ondrej; Grant, Michael; Lebl, Jan; Hendy, Geoffrey N
2016-04-01
Autosomal dominant hypocalcemia (ADH) is a rare disorder caused by activating mutations of the calcium-sensing receptor (CASR). The treatment of ADH patients with 1α-hydroxylated vitamin D derivatives can cause hypercalciuria leading to nephrocalcinosis. We studied a girl who presented with hypoparathyroidism and asymptomatic hypocalcemia at age 2.5 years. Mutations of CASR were investigated by DNA sequencing. Functional analyses of mutant and WT CASRs were done in transiently transfected human embryonic kidney (HEK293) cells. The proband and her father are heterozygous for an eight-nucleotide deletion c.2703_2710delCCTTGGAG in the CASR encoding the intracellular domain of the protein. Transient expression of CASR constructs in kidney cells in vitro suggested greater cell surface expression of the mutant receptor with a left-shifted extracellular calcium dose-response curve relative to that of the WT receptor consistent with gain of function. Initial treatment of the patient with calcitriol led to increased urinary calcium excretion. Evaluation for mosaicism in the paternal grandparents of the proband was negative. We describe a novel naturally occurring deletion mutation within the CASR that apparently arose de novo in the father of the ADH proband. Functional analysis suggests that the cytoplasmic tail of the CASR contains determinants that regulate the attenuation of signal transduction. Early molecular analysis of the CASR gene in patients with isolated idiopathic hypoparathyroidism is recommended because of its relevance to clinical outcome and treatment choice. In ADH patients, calcium supplementation and low-dose cholecalciferol avoids hypocalcemic symptoms without compromising renal function. © 2016 European Society of Endocrinology.
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Choi, Keun Hee; Shin, Choong Ho; Yang, Sei Won; Cheong, Hae Il
2015-04-01
The calcium sensing receptor (CaSR) plays an important role in calcium homeostasis. Activating mutations of CaSR cause autosomal dominant hypocalcemia by affecting parathyroid hormone secretion in parathyroid gland and calcium resorption in kidney. They can also cause a type 5 Bartter syndrome by inhibiting the apical potassium channel in the thick ascending limb of the loop of Henle in the kidney. This study presents a patient who had autosomal dominant hypocalcemia with Bartter syndrome due to an activating mutation Y829C in the transmembrane domain of the CaSR. Symptoms of hypocalcemia occurred 12 days after birth and medication was started immediately. Medullary nephrocalcinosis and basal ganglia calcification were found at 7 years old and at 17 years old. Three hypercalcemic episodes occurred, one at 14 years old and two at 17 years old. The Bartter syndrome was not severe while the serum calcium concentration was controlled, but during hypercalcemic periods, the symptoms of Bartter syndrome were aggravated.
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Diagnostic dilemma: osteopetrosis with superimposed rickets causing neonatal hypocalcemia.
Olgaç, Asburçe; Tümer, Leyla; Boyunağa, Öznur; Kızılkaya, Metehan; Hasanoğlu, Alev
2015-04-01
Osteopetrosis is a rare genetic condition of reduced osteoclastic bone resorption which causes defective bone remodeling and skeletal sclerosis during growth, having effects on many organs and tissues. Mutation of T-cell immune regulator 1 (TCRG1) gene is the most common genetic defect leading to osteopetrosis, with poor prognosis. The autosomal recessive form presents in the infantile period (also known as malignant infantile osteopetrosis--MIOP), and is characterized by fractures, short stature, hepatosplenomegaly, compressive neuropathies, hypocalcemia and pancytopenia. Being a rare disease with non-specific clinical manifestations, the diagnosis is difficult and usually delayed. Rickets is a characteristic feature of MIOP which results from the defect in osteoclasts to provide a normal Ca/P balance resulting in the poor mineralization of the osteoid. Various treatment options have been suggested for osteopetrosis, but hematopoietic stem cell transplantation still remains the only curative treatment option presently. The authors report the case of a 46-day-old girl with late-onset neonatal hypocalcemia and rickets that was later diagnosed as osteopetrosis. This case report emphasizes that infantile osteopetrosis is an important cause of neonatal hypocalcemia. As irreversible complications develop within the first months of life, immediate diagnosis and early intervention are crucial and may be life-saving. © The Author [2015]. Published by Oxford University Press. All rights reserved. For Permissions, please email: journals.permissions@oup.com.
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Chemotherapy-induced hypocalcemia.
Ajero, Pia Marie E; Belsky, Joseph L; Prawius, Herbert D; Rella, Vincent
2010-01-01
To present a unique case of transient, asymptomatic chemotherapy-induced hypocalcemia not attributable to hypomagnesemia or tumor lysis syndrome and review causes of hypocalcemia related to cancer with and without use of chemotherapy. We present a case detailing the clinical and laboratory findings of a patient who had severe hypocalcemia during chemotherapy and discuss causes of hypocalcemia with an extensive literature review of chemotherapeutic agents associated with this biochemical abnormality. In a 90-year-old man, hypocalcemia developed during 2 courses of chemotherapy for Hodgkin lymphoma, with partial recovery between courses and normal serum calcium 10 months after completion of treatment. Magnesium, vitamin D, and parathyroid hormone levels were low normal. There was no evidence of tumor lysis syndrome. Of the various agents administered, vinca alkaloids seemed the most likely cause. Serial testing suggested that the underlying mechanism may have been acquired, reversible hypoparathyroidism. No other similar case was found in the published literature. The severe hypocalcemia in our patient could not be attributed to hypomagnesemia or tumor lysis syndrome, and it was clearly associated with the timing of his chemotherapeutic regimen. Possibilities include direct parathyroid hormone suppression or alteration of calcium sensing by the chemotherapeutic drugs. Serum calcium surveillance before and during chemotherapeutic management of cancer patients may reveal more instances and provide insight into the exact mechanism of this lesser known yet striking complication.
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Mutations Affecting G-Protein Subunit α11 in Hypercalcemia and Hypocalcemia
Babinsky, Valerie N.; Head, Rosie A.; Cranston, Treena; Rust, Nigel; Hobbs, Maurine R.; Heath, Hunter; Thakker, Rajesh V.
2013-01-01
BACKGROUND Familial hypocalciuric hypercalcemia is a genetically heterogeneous disorder with three variants: types 1, 2, and 3. Type 1 is due to loss-of-function mutations of the calcium-sensing receptor, a guanine nucleotide–binding protein (G-protein)–coupled receptor that signals through the G-protein subunit α11 (Gα11). Type 3 is associated with adaptor-related protein complex 2, sigma 1 subunit (AP2S1) mutations, which result in altered calcium-sensing receptor endocytosis. We hypothesized that type 2 is due to mutations effecting Gα11 loss of function, since Gα11 is involved in calcium-sensing receptor signaling, and its gene (GNA11) and the type 2 locus are colocalized on chromosome 19p13.3. We also postulated that mutations effecting Gα11 gain of function, like the mutations effecting calcium-sensing receptor gain of function that cause autosomal dominant hypocalcemia type 1, may lead to hypocalcemia. METHODS We performed GNA11 mutational analysis in a kindred with familial hypocalciuric hypercalcemia type 2 and in nine unrelated patients with familial hypocalciuric hypercalcemia who did not have mutations in the gene encoding the calcium-sensing receptor (CASR) or AP2S1. We also performed this analysis in eight unrelated patients with hypocalcemia who did not have CASR mutations. In addition, we studied the effects of GNA11 mutations on Gα11 protein structure and calcium-sensing receptor signaling in human embryonic kidney 293 (HEK293) cells. RESULTS The kindred with familial hypocalciuric hypercalcemia type 2 had an in-frame deletion of a conserved Gα11 isoleucine (Ile200del), and one of the nine unrelated patients with familial hypocalciuric hypercalcemia had a missense GNA11 mutation (Leu135Gln). Missense GNA11 mutations (Arg181Gln and Phe341Leu) were detected in two unrelated patients with hypocalcemia; they were therefore identified as having autosomal dominant hypocalcemia type 2. All four GNA11 mutations predicted disrupted protein
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Hypocalcemia in ewes after a drought
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Larsen, J.W.A.; Constable, P.D.; Napthine, D.V.
1986-01-01
A marked increase in the incidence of hypocalcemia of ewes 2 to 6 weeks before lambing was observed in the Western District of Victoria, following the break of the severe 1982/3 drought. A similar observation was made after the 1968 drought. In western Victoria, hypocalcemia is usually seen annually as sporadic cases or in sporadic outbreaks associated with some predisposing stress. After the drought broke in 1983, many farms reported cases of hypocalcemia in ewes. The incidence of hypocalcemia on the 9 farms the authors studied varied from 1 to 8% of all ewes, with some mobs having an incidence of over 10%. Detailed investigation of 9 farms that affected sheep were grazing pasture of unusually low calcium (Ca) content. Near record rains fell after the drought broke in late March 1983 resulting in luxuriant pasture growth with subterranean clover Trifolium subterraneum and capeweed Arctotheca calendula the dominant species. Cases of hypocalcemia commenced in May 1983 reaching a peak in June-July corresponding with flocks' lambing times, and continued into August. Most occurred spontaneously in mature ewes. A few farms experienced many cases during prelambing crutching.
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Fong, Jeremy; Khan, Aliya
2012-01-01
Abstract Objective To provide family physicians with an evidence-based approach to the diagnosis and management of hypocalcemia. Quality of evidence MEDLINE and EMBASE articles from 2000 to 2010 were searched, with a focus on the diagnosis and management of hypocalcemia. Levels of evidence (I to III) were cited where appropriate, with most studies providing level II or III evidence. References of pertinent papers were also searched for relevant articles. Main message Chronic hypocalcemia is commonly due to inadequate levels of parathyroid hormone or vitamin D, or due to resistance to these hormones. Treatment focuses on oral calcium and vitamin D supplements, as well as magnesium if deficiency is present. Treatment can be further intensified with thiazide diuretics, phosphate binders, and a low-salt and low-phosphorus diet when treating hypocalcemia secondary to hypoparathyroidism. Acute and life-threatening calcium deficit requires treatment with intravenous calcium. The current treatment recommendations are largely based on expert clinical opinion and published case reports, as adequately controlled clinical trial data are not currently available. Complications of current therapies for hypoparathyroidism include hypercalciuria, nephrocalcinosis, renal impairment, and soft tissue calcification. Current therapy is limited by serum calcium fluctuations. Although these complications are well recognized, the effects of therapy on overall well-being, mood, cognition, and quality of life, as well as the risk of complications, have not been adequately studied. Conclusion Family physicians play a crucial role in educating patients about the long-term management and complications of hypocalcemia. Currently, management is suboptimal and marked by fluctuations in serum calcium and a lack of approved parathyroid hormone replacement therapy for hypoparathyroidism. PMID:22439169
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Dong, Bingzi; Endo, Itsuro; Ohnishi, Yukiyo; Kondo, Takeshi; Hasegawa, Tomoka; Amizuka, Norio; Kiyonari, Hiroshi; Shioi, Go; Abe, Masahiro; Fukumoto, Seiji; Matsumoto, Toshio
2015-11-01
Activating mutations of calcium-sensing receptor (CaSR) cause autosomal dominant hypocalcemia (ADH). ADH patients develop hypocalcemia, hyperphosphatemia, and hypercalciuria, similar to the clinical features of hypoparathyroidism. The current treatment of ADH is similar to the other forms of hypoparathyroidism, using active vitamin D3 or parathyroid hormone (PTH). However, these treatments aggravate hypercalciuria and renal calcification. Thus, new therapeutic strategies for ADH are needed. Calcilytics are allosteric antagonists of CaSR, and may be effective for the treatment of ADH caused by activating mutations of CaSR. In order to examine the effect of calcilytic JTT-305/MK-5442 on CaSR harboring activating mutations in the extracellular and transmembrane domains in vitro, we first transfected a mutated CaSR gene into HEK cells. JTT-305/MK-5442 suppressed the hypersensitivity to extracellular Ca(2+) of HEK cells transfected with the CaSR gene with activating mutations in the extracellular and transmembrane domains. We then selected two activating mutations locating in the extracellular (C129S) and transmembrane (A843E) domains, and generated two strains of CaSR knock-in mice to build an ADH mouse model. Both mutant mice mimicked almost all the clinical features of human ADH. JTT-305/MK-5442 treatment in vivo increased urinary cAMP excretion, improved serum and urinary calcium and phosphate levels by stimulating endogenous PTH secretion, and prevented renal calcification. In contrast, PTH(1-34) treatment normalized serum calcium and phosphate but could not reduce hypercalciuria or renal calcification. CaSR knock-in mice exhibited low bone turnover due to the deficiency of PTH, and JTT-305/MK-5442 as well as PTH(1-34) increased bone turnover and bone mineral density (BMD) in these mice. These results demonstrate that calcilytics can reverse almost all the phenotypes of ADH including hypercalciuria and renal calcification, and suggest that calcilytics can become a
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Gastric vagus mediates immobilization-induced hypocalcemia in rats.
Ma, J; Aou, S; Matsui, H; Hori, T
1993-09-01
The involvement of the parasympathetic nervous system in the etiology of stress-induced hypocalcemia was investigated in the rat. Atropine methyl bromide (0.1 and 0.6 mg/kg ip) given 20 min before immobilization (IMB) was observed to suppress the induction of hypocalcemia in a dose-dependent manner. A vagotomy of the bilateral cervical trunks also abolished the IMB-induced hypocalcemia. A vagotomy on either the thyroid/parathyroid branches or the celiac branches had no effect on the IMB-induced hypocalcemia, but a vagotomy on the gastric branches completely abolished it. Pretreatment with either secretin (2 and 6 micrograms/kg ip), an inhibitor of gastrin release, or cimetidine (5 and 10 mg/kg ip), a histamine H2-receptor antagonist, diminished the IMB-induced hypocalcemia. The concentration of serum gastrin increased significantly during IMB. It is thus concluded that the decreased levels of plasma calcium caused by IMB are due to the activation of the vagus innervating the stomach. Gastrin and histamine are also involved as a consequence of the activation of the vagus.
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Institute of Scientific and Technical Information of China (English)
WANG Ou; XING Xiao-ping; MENG Xun-wu; XIA Wei-bo; LI Mei; JIANG Yan; HU Ying-ying; LIU Huai-cheng
2009-01-01
Background Parathyroid hormone deficiency or resistance may cause hypocalcemia with related symptoms and signs. Lifelong treatment of calcium combined with vitamin D or its metabolites is always necessary for these patients. Here we reported a prospective and open-label trial to investigate the efficacy and safety of domestic-made calcitriol in treatment of hypocalcemia caused by hypoparathyroidism or pseudohypoparathyroidism.Methods Twenty-four patients with confirmed hypoparathyroidism or pseudohypoparathyroidism aged (36.5±11.0) years old were studied. Among them, 16 patients had idiopathic hypoparathyroidism, 2 had pseudohypoparathyroidism and 6 had hypoparathyroidism secondary to cervical surgery. Serum calcium levels were lower than 1.88 mmol/L. Oral calcitriol was administered twice or three times with elemental calcium 1.2 g per day. All patients were followed every 4 weeks throughout the 12-week period. Dose adjustments of calcitriol were based on serum and urinary calcium levels and symptoms of hypocalcemia.Results Twenty patients were included by the end of this study. Muscular weakness, cramps, extremity paresthesia, Chovestek's sign and Trousseau's sign were relieved in 76.9%, 100%, 94.4%, 93.3% and 78.9% of patients, respectively. Serum calcium, plasma ionized calcium and serum phosphorus levels were (1.54±0.25) mmol/L, (0.64±0.10) mmol/L and (2.00±0.46) mmol/L at baseline, and reached (2.20±0.20) mmol/L, (0.95±0.06) mmol/L and (1.68±0.25) mmol/L (P<0.01) at the 12th week of treatment, respectively. Eighty percent of patients were assessed as effective and 20% as partly effective. Three, four and eight patients had hypercalciuria at the 4th, 8th and 12th week of treatment, respectively, which were reduced by thiazide diuretics. The final dose of calcitriol was (1.09±0.50) μg/d.Conclusions Calcitriol combined with calcium can be used in treatment of hypocalcemia caused by hypoparathyroidism or pseudohypoparathyroidism effectively and safely
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Acute symptomatic hypocalcemia from immune checkpoint therapy-induced hypoparathyroidism.
Win, Myint Aung; Thein, Kyaw Zin; Qdaisat, Aiham; Yeung, Sai-Ching Jim
2017-07-01
Ipilimumab (a monoclonal antibody against CTLA-4) and nivolumab (a humanized antibody against PD-1) target these immune checkpoint pathways and are used for treatment of melanoma and an increasing number of other cancers. However, they may cause immune-related adverse effects (IRAEs). Although many endocrinopathies are known to be IRAEs, primary hypoparathyroidism with severe hypocalcemia has never been reported. This is the first case of hypoparathyroidism as an IRAE presenting to an Emergency Department with acute hypocalcemia. A 73-year-old man with metastatic melanoma presented to the Emergency Department for the chief complaints of imbalance, general muscle weakness, abdominal pain and tingling in extremities. He had wide spread metastasis, and begun immunotherapy with concurrent ipilimumab and nivolumab 1.5months ago. At presentation, he had ataxia, paresthesia in the hands and feet, and abdominal cramping. Magnetic resonance imaging of the brain was unremarkable. He was found to be hypocalcemic with undetectable plasma parathyroid hormone. He was admitted for treatment of symptomatic hypocalcemia and was diagnosed with primary hypoparathyroidism. Shortly afterwards, he had thyrotoxicosis manifesting as tachycardia and anxiety, followed by development of primary hypothyroidism. At 4months after the Emergency Department visit, his parathyroid function and thyroid function had not recovered, and required continued thyroid hormone replacement and calcium and vitamin D treatment for hypocalcemia. Primary hypoparathyroidism caused by ipilimumab and nivolumab may acute manifest with severe symptomatic hypocalcemia. Emergency care providers should be aware of hypoparathyroidism as a new IRAE in this new era of immuno-oncology. Copyright © 2017 Elsevier Inc. All rights reserved.
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Hypocalcemia and hyperkalemia during magnesium infusion therapy in a pre-eclamptic patient
Hudali, Tamer; Takkar, Chandandeep
2015-01-01
Key Clinical Message We present a case of prominent hypocalcemia and hyperkalemia attributed to magnesium infusion in a preeclamptic patient. Iatrogenic hypermagnesemia is an underrecognized cause of hypocalcemia and hyperkalemia. Our report illustrates the effects of magnesium therapy on serum calcium and potassium, necessitating close electrolytes monitoring when used.
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Zangoei Dovvom Samane; Mottaghi Minoo
2016-01-01
There are several methods to reduce serum bilirubin in neonatal jaundice that the most common of them is phototherapy and this method will cause some side effects which one of them is hypocalcemia that is occurred due to the decreased serum concentration of melatonin. This study was conducted aims to evaluate the effect of covering head on hypocalcemia caused by the phototherapy in the icteric infants in the Vali-e-Asr Hospital in 2015. in this clinical trial study, 60 preterm inf...
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Directory of Open Access Journals (Sweden)
Saskia Letz
Full Text Available Activating calcium sensing receptor (CaSR mutations cause autosomal dominant hypocalcemia (ADH characterized by low serum calcium, inappropriately low PTH and relative hypercalciuria. Four activating CaSR mutations cause additional renal wasting of sodium, chloride and other salts, a condition called Bartter syndrome (BS type 5. Until today there is no specific medical treatment for BS type 5 and ADH. We investigated the effects of different allosteric CaSR antagonists (calcilytics on activating CaSR mutants.All 4 known mutations causing BS type 5 and five ADH mutations were expressed in HEK 293T cells and receptor signalling was studied by measurement of intracellular free calcium in response to extracellular calcium ([Ca2+]o. To investigate the effect of calcilytics, cells were stimulated with 3 mM [Ca2+]o in the presence or absence of NPS-2143, ATF936 or AXT914.All BS type 5 and ADH mutants showed enhanced signalling activity to [Ca2+]o with left shifted dose response curves. In contrast to the amino alcohol NPS-2143, which was only partially effective, the quinazolinone calcilytics ATF936 and AXT914 significantly mitigated excessive cytosolic calcium signalling of all BS type 5 and ADH mutants studied. When these mutants were co-expressed with wild-type CaSR to approximate heterozygosity in patients, ATF936 and AXT914 were also effective on all mutants.The calcilytics ATF936 and AXT914 are capable of attenuating enhanced cytosolic calcium signalling activity of CaSR mutations causing BS type 5 and ADH. Quinazolinone calcilytics might therefore offer a novel treatment option for patients with activating CaSR mutations.
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Takeyama, Mayu; Sai, Kimie; Imatoh, Takuya; Segawa, Katsunori; Hirasawa, Noriyasu; Saito, Yoshiro
2017-01-01
The anti-receptor activator of nuclear factor kappa-B ligand (RANKL) antibody, Denosumab (DEN), was approved in April 2012 in Japan, but a Dear Healthcare Professional Letter of Rapid Safety Communication was released in September, 2012 by the regulatory authority because of the severe hypocalcemia risks. Currently, the effectiveness of this regulatory action has not been evaluated and, therefore, this study aimed to assess its impact on DEN-induced hypocalcemia using the Japanese Adverse Drug Event Report database (JADER). The case reports from April 2012 to September 2014 were collected from the JADER, which included 151642 adverse events for the primary suspected drugs. The reporting odds ratio (ROR) of hypocalcemia as a signal of the target adverse event was analyzed for DEN and zoledronic acid (ZOL, a reference drug). Changes in RORs were compared between the pre- (Pre, April 2012 to September 2012) and post- (Post 1, October 2012 to September 2013 and Post 2, October 2013 to September 2014) periods of the regulatory action. A decrease in the hypocalcemia ROR was observed for DEN in the post-periods, especially Post 2. Multivariate logistic regression analysis showed a significant decrease in hypocalcemia signal in Post 1 (p=0.0306 vs. Pre) and Post 2 (p=0.0054 vs. Pre). ZOL caused no significant changes in ROR of hypocalcemia, and none of the drugs caused ROR changes in jaw osteonecrosis (a reference adverse event). This study suggests that the regulatory action against hypocalcemia in DEN effectively decreased hypocalcemia signal. Further studies using medical information databases are needed to confirm this result.
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Post-thyroidectomy hypocalcemia: Impact on length of stay.
Grainger, Joe; Ahmed, Mohammed; Gama, Rousseau; Liew, Leonard; Buch, Harit; Cullen, Ronald J
2015-07-01
Hypocalcemia is a recognized complication following thyroid surgery. Variability in the definition of hypocalcemia and different opinions on its management can lead to unnecessary patient morbidity and longer hospital stays as a result of inappropriate or untimely treatment. Therefore, we developed a management guideline for the recognition and treatment of post-thyroidectomy hypocalcemia, and we conducted a retrospective study to assess its impact on length of stay (LOS). Between April 1, 2007, and March 31, 2009, 29 adults had undergone a total or completion thyroidectomy at our large district general hospital. Of this group, postoperative hypocalcemia (defined as a serum calcium level of effect on July 1, 2009, and from that date through June 30, 2010, 18 more adults had undergone a total or completion thyroidectomy. Of that group, hypocalcemia developed in 7 patients (38.9%); the guideline was actually followed in 5 of these 7 cases (71.4%). In the preguideline group, the development of hypocalcemia increased the mean LOS from 2.0 days to 7.0 days (p hypocalcemia in these cases was highly variable and was dictated by variations in practice rather than patient needs. In the postguideline group, postoperative hypocalcemia increased the mean LOS from 2.7 days to only 3.7 days (p = 0.07). While the difference between LOS in the two hypocalcemic groups did not reach statistical significance, we believe it merely reflects the relatively small number of patients rather than any lack of guideline efficacy. The implementation of a simple flowchart guideline for the management of postoperative hypocalcemia in our hospital has resulted in more uniform management and a reduced LOS.
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Hypocalcemia and tetany caused by vitamin D deficiency in a child with intestinal lymphangiectasia.
Lu, Ying-Yi; Wu, Jia-Feng; Ni, Yen-Hsuan; Peng, Steven Shinn-Forng; Shun, Chia-Tung; Chang, Mei-Hwei
2009-10-01
Primary intestinal lymphangiectasia is a rare disease of children, which is characterized by chronic diarrhea and complicated with malnutrition, including fat-soluble vitamin deficiency. We report a girl aged 4 years and 8 months who was diagnosed with the disease by endoscopic duodenal biopsy at 8 months of age. She presented initially with chronic diarrhea at 4 months of age. Generalized edema with hypoalbuminemia frequently occurred despite regular albumin supplements. Multiple vitamins initially were not supplied regularly. Episodes of tetany caused by hypocalcemia developed 4 years after the diagnosis of intestinal lymphangiectasia. Imaging study (long-bone X-ray and dual-energy X-ray absorptiometry) revealed low bone density. Complicated vitamin D deficiency [low serum 25-hydroxy vitamin D concentration (intestinal lymphangiectasia.
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Seasonal Difference in Postthyroidectomy Hypocalcemia: A Montreal-Based Study.
Mascarella, Marco A; Forest, Véronique-Isabelle; Nhan, Carol; Leboeuf, Rébecca; Tamilia, Michael; Mlynarek, Alex M; Payne, Richard J
2016-02-01
Hypocalcemia following thyroidectomy often prolongs hospital stay and is potentially life-threatening. The objective of this study is to determine whether the season when thyroidectomy is performed is associated with postoperative hypocalcemia. Retrospective case series of patients undergoing thyroid surgery from 2009 to 2015. Tertiary care academic institution in Montreal, Canada. A consecutive sample of 823 patients undergoing thyroidectomy by a single high-volume otolaryngologist for a suspected or confirmed thyroid malignancy. Patient demographics, procedure type, calcium and vitamin D supplementation, and seasonal rate of hypocalcemia postthyroidectomy were calculated and compared. Average seasonal rates of postthyroidectomy hypocalcemia in the winter, spring, summer, and autumn were, respectively, 8.3% (8 of 216), 7.3% (12 of 165), 1.5% (3 of 201), and 3.5% (8 of 228; P operated in the winter were 5.6 times more likely to develop hypocalcemia as compared with those in the summer (P factoring in season when surgery was performed, procedure type, and preoperative vitamin D/calcium supplementation, surgery occurring in the winter predicted a hypocalcemia event (correlation coefficient [SE]: 0.72 [0.024], P = .026; 0.006 [0.025], P = .81; 0.004 [0.019], P = .82, respectively). In this study, patients undergoing thyroidectomy in the winter months were more likely to develop postoperative hypocalcemia when compared with those operated in the summer. Further studies are needed to understand the role of vitamin D in the observed seasonal difference in hypocalcemia rates. © American Academy of Otolaryngology—Head and Neck Surgery Foundation 2015.
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Relation between vitamin D and calcium and post operation hypocalcemia in total thyroidectomy
Directory of Open Access Journals (Sweden)
Leila Asefkabiri
2017-06-01
Full Text Available Background: Hypocalcemia is one of the most prevalent complications following total thyroidectomy. Over recent years, in addition to hormone parathyroid hormone (PTH, vitamin D has been also studied as a factor causing post-total thyroidectomy hypocalcemia. This survey seeks to study the relationship between the serum level of vitamin D before surgery and during post-total thyroidectomy hypocalcemia. Methods: A group of 57 patients volunteering for total thyroidectomy were studied on Vali-e-Asr Hospital, Tehran, Iran, from March 2013 to March 2015. In all these patients, pre-surgery calcium, vitamin D and parathyroid hormone (PTH as well as the level of calcium during the post-surgery first two days were measured. Based on objectives of this study, the relationship be-tween pre-surgery vitamin D level and post-surgery hypocalcemia was examined. Results: The average age of patients participating in the survey was 24.1±13.3. They included 19 women (33.3% and 38 men, total of 40 patients (70.2%. Their average post-surgery calcium level was 9.2±0.77 milligrams per deciliters (mg/dl and their average vitamin D content before the surgery was 42±12.1 nanomole per liter (nmol/l. The average calcium level before the surgery and the first post-surgery day were meaningfully different in terms of statistics (P0.001. Of 37 patients with pre-surgery vitamin D deficiency, 31 suffered post-surgery second-day hypocalcemia and of 20 patients with vitamin D insufficiency, 18 suffered second-day hypocalcemia. This difference was not statistically meaningful either (P>0.001. Conclusion: The current study showed that the serum level of vitamin D before total thyroidectomy does not have any role in the occurrence of post-surgery hypocalcemia which is almost common after this type of surgery.
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DEFF Research Database (Denmark)
Roszko, Kelly L; Bi, Ruiye; Gorvin, Caroline M
2017-01-01
in patients with autosomal-dominant hypocalcemia type 2 (ADH2), an inherited disorder of hypocalcemia, low parathyroid hormone (PTH), and hyperphosphatemia. We have generated knockin mice harboring the point mutation GNA11 c.C178T (p.Arg60Cys) identified in ADH2 patients. The mutant mice faithfully replicated...... human ADH2. They also exhibited low bone mineral density and increased skin pigmentation. Treatment with NPS 2143, a negative allosteric modulator of the calcium-sensing receptor (CASR), increased PTH and calcium concentrations in WT and mutant mice, suggesting that the gain-of-function effect of GNA11...
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Godolphin, W; Cameron, E C; Frohlich, J; Price, J D
1979-02-01
Patients on long-term hemodialysis via arteriovenous fistula received heparin when the fistula needle was inserted, before a sample of blood was obtained for chemical analysis. The resultant release of lipoprotein lipase activity in vivo and continued lipolytic activity in vitro sometimes produced sufficient free fatty acid to precipitate calcium soaps. The consequent spurious hypocalcemia was most frequently observed when the patients had chylomicronemia. This cause of apparent hypocalcemia was eliminated either by immediate analyses of the blood samples or by obtaining samples before systemic heparinization.
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Arer, Ilker Murat; Kus, Murat; Akkapulu, Nezih; Aytac, Huseyin Ozgur; Yabanoglu, Hakan; Caliskan, Kenan; Tarim, Mehmet Akin
2017-02-01
Postoperative hypocalcemia is the most common complication after total thyroidectomy. Postoperative parathyroid hormone (PTH) measurement is one of the methods to detect or prevent postoperative hypocalcemia. Prophylactic oral calcium supplementation is another method to prevent early postoperative hypocalcemia. The aim of this study is to detect the accurate timing of PTH and evaluate efficacy of routine oral calcium supplementation for postoperative hypocalcemia. A total of 106 patients were performed total thyroidectomy. Rotuine oral calcium supplementation was given to group 1 and no treatment to group 2 according to randomization. Serum calcium and PTH level of patients in group 2 at postoperative 6, 12 and 24 h and patients in both groups at postoperative day 7 were evaluated. Patients were compared according to age, sex, operation findings, serum calcium and PTH levels and symptomatic hypocalcemia. Half of the patients (50%) were in group 1. Most of the patients were female (83%). The most common etiology of thyroid disease was multinodular goiter (64.1%). Oral calcium supplementation was given to 18 (33.9%) patients in group 2. Symptomatic hypocalcemia for group 1 and 2 was found to be 1.9 and 33.9% respectively (p hypocalcemia. Prophylactic oral calcium supplementation therapy can prevent early post-thyroidectomy hypocalcemia with advantages of being cost effective and safe. Copyright © 2016 IJS Publishing Group Ltd. Published by Elsevier Ltd. All rights reserved.
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Postoperative hypocalcemia after thyroidectomy for Graves' disease.
Pesce, Catherine E; Shiue, Zita; Tsai, Hua-Ling; Umbricht, Christopher B; Tufano, Ralph P; Dackiw, Alan P B; Kowalski, Jeanne; Zeiger, Martha A
2010-11-01
It is believed that patients who undergo thyroidectomy for Graves' disease are more likely to experience postoperative hypocalcemia than patients undergoing total thyroidectomy for other indications. However, no study has directly compared these two groups of patients. The aim of this study was to determine whether there was an increased incidence or severity of postoperative hypocalcemia in patients who underwent thyroidectomy for Graves' disease. An institutional review board-approved database was created of all patients who underwent thyroidectomy from 1998 to 2009 at the Johns Hopkins Hospital. There were a total of 68 patients with Graves' disease who underwent surgery. Fifty-five patients who underwent total thyroidectomy were randomly selected and served as control subjects. An analysis was conducted that examined potential covariates for postoperative hypocalcemia, including age, gender, ethnicity, preoperative alkaline phosphatase level, size of goiter, whether parathyroid tissue or glands were present in the specimen, and the reason the patient underwent surgery. Specific outcomes examined were calcium levels on postoperative day 1, whether or not patients experienced symptoms of hypocalcemia, whether or not Rocaltrol was required, the number of calcium tablets prescribed upon discharge, whether or not postoperative tetany occurred, and calcium levels 1 month after discharge. Each outcome was analyzed using a logistic regression. Graves' disease patients had a significantly (p-value Graves' disease and no patient in the control group were readmitted with tetany (p = 0.033). There was a trend, though not significant, toward patients with Graves' disease having a higher prevalence of hypocalcemia the day after thyroidectomy and 1 month later. Patients with Graves' disease are more likely to require increased dosages of calcium as well as experience tetany postoperatively than patients undergoing total thyroidectomy for other indications. This suggests that
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Postoperative IPTH compared with IPTH gradient as predictors of post-thyroidectomy hypocalcemia.
Al Khadem, Mai G; Rettig, Eleni M; Dhillon, Vaninder K; Russell, Jonathon O; Tufano, Ralph P
2018-03-01
Predicting patients' risk for hypocalcemia after thyroidectomy may allow for same-day discharge. This study was designed to compare postoperative intact parathyroid hormone (IPTH) alone with percentage change in IPTH (IPTH gradient) in predicting post-thyroidectomy hypocalcemia. Retrospective cohort study. Patients undergoing total thyroidectomy by the senior author from May 2015 to May 2016 were included. Serum IPTH was measured preoperatively and 1 hour postoperatively, and IPTH gradient was calculated. Postoperative hypocalcemia was mild (≥8.0, gradient were compared with hypocalcemia using logistic regression. Receiver operating characteristic analysis of IPTH measures as predictors of hypocalcemia was performed, and the area under the curve (AUC) was calculated. Overall, 119 patients were included. Forty-seven percent of the patients developed postoperative hypocalcemia, including 26 (22%) with mild and 30 (25%) with severe hypocalcemia. Thirteen patients had hypocalcemic symptoms. Median IPTH gradient and postoperative IPTH each differed significantly by category of hypocalcemia (P gradient was significantly associated with odds of severe and symptomatic hypocalcemia (adjusted odds ratio [aOR]: 1.21, 95% confidence interval [CI]: 1.06-1.39 and aOR: 1.34, 95% CI: 1.05-1.71 per 10% increase), whereas lower postoperative IPTH was not (aOR: 1.27, 95% CI: 0.95-1.68 and aOR: 1.44, 95% CI: 0.90-2.31 per 10 pg/mL decrease). The AUC for predicting severe hypocalcemia was nonsignificantly higher for IPTH gradient than postoperative IPTH (AUC = 0.77 vs. 0.69, P = .10). The AUC for predicting symptomatic hypocalcemia was significantly higher for IPTH gradient (AUC = 0.75 vs. 0.72, P = .03). Our results suggest that the IPTH gradient may be more useful than postoperative IPTH alone in predicting risk of post-thyroidectomy hypocalcemia. 4. Laryngoscope, 128:769-774, 2018. © 2017 The American Laryngological, Rhinological and Otological Society, Inc.
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Diminished parathyroid gland responsiveness to hypocalcemia in diabetic patients with uremia.
Heidbreder, E; Götz, R; Schafferhans, K; Heidland, A
1986-01-01
The parathyroid gland responsiveness to hypocalcemia induced by short-term calcium-free hemodialysis in patients with insulin-dependent diabetes mellitus was investigated in comparison with 10 nondiabetic uremic patients and compared with test results from the autonomic nervous system. Diabetic patients had lower C-terminal parathyroid hormone (cPTH) levels before hemodialysis than uremic control patients and showed a significantly smaller increase in cPTH during hypocalcemia. The neurological tests revealed severe disturbances of the autonomic functions in the diabetic group. In conclusion, the disturbances observed in the parathyroid secretory pattern are probably caused by gland dysfunction; it is hypothesized that the defective autonomic nervous system has an additional effect on the development of this hormonal dysfunction.
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Hypocalcemia and Tetany Caused by Vitamin D Deficiency in a Child With Intestinal Lymphangiectasia
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Ying-Yi Lu
2009-10-01
Full Text Available Primary intestinal lymphangiectasia is a rare disease of children, which is characterized by chronic diarrhea and complicated with malnutrition, including fat-soluble vitamin deficiency. We report a girl aged 4 years and 8 months who was diagnosed with the disease by endoscopic duodenal biopsy at 8 months of age. She presented initially with chronic diarrhea at 4 months of age. Generalized edema with hypoalbuminemia frequently occurred despite regular albumin supplements. Multiple vitamins initially were not supplied regularly. Episodes of tetany caused by hypocalcemia developed 4 years after the diagnosis of intestinal lymphangiectasia. Imaging study (long-bone X-ray and dual-energy X-ray absorptiometry revealed low bone density. Complicated vitamin D deficiency [low serum 25-hydroxy vitamin D concentration (< 12.48 mmol/L, the detection limit] and secondary hyperparathyroidism were confirmed via blood testing. Vitamin D supplementation for 3 months improved her bone density, secondary hyperparathyroidism and frequent tetany. Vitamin D status should be monitored in patients with intestinal lymphangiectasia.
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Merchavy, Shlomo; Marom, Tal; Forest, Veronique-Isabelle; Hier, Michael; Mlynarek, Alex; McHugh, Tobial; Payne, Richard
2015-01-01
To study the rate of postoperative hypocalcemia following completion thyroidectomy (CT), in comparison with the hypocalcemia rate following total thyroidectomy (TT). A retrospective study, performed at the McGill University Thyroid Cancer Center, Montreal, Quebec, Canada, from 2007 to 2012. Medical records of adult patients undergoing CT and TT operated by a single surgeon were reviewed. Data were extracted for demographics, postoperative calcium levels, surgical logs, and final surgical pathology. Hypocalcemia was defined as corrected serum calcium level ≤ 1.90 mmol/L, with concurrent serum parathyroid hormone hypocalcemia. There were 68 CTs and 146 TTs. Transient hypocalcemia occurred in 1 of 68 (1.5%) and 18 of 146 (12.5%) patients in the CT and TT groups, respectively. The rate of hypocalcemia was significantly lower in the CT compared with the TT group (P = .02). In both groups, there were no cases of permanent hypocalcemia. The risk of transient of hypocalcemia in patients undergoing CT is significantly lower than the rate of hypocalcemia in patients undergoing TT. © American Academy of Otolaryngology—Head and Neck Surgery Foundation 2014.
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Chisthi, Meer M; Nair, Rakhi S; Kuttanchettiyar, Krishnakumar G; Yadev, Induprabha
2017-08-01
Hypocalcemia after thyroidectomy is attributed to injury or ischemia to parathyroid glands. Transient hypocalcemia in thyroidectomy when parathyroids are preserved is not adequately explained. Release of calcitonin and hypoalbuminemia are two proposed reasons. Primary objective of this study was to find the change in calcitonin in the postoperative period after total thyroidectomy. Secondarily, hypocalcemia and its correlation with calcitonin, albumin, and parathormone were also studied. This Cohort study was carried out at the general surgical department of a tertiary level teaching institution from April 2015 to December 2015. One hundred adult patients undergoing total thyroidectomy, with at least three parathyroids being preserved were included. Changes in calcium, calcitonin, albumin, and parathormone were studied based on preoperative levels and the values at 1, 6, 24, and 48 hr after surgery. Calcitonin increased at one hour after thyroidectomy and fell below preoperative levels subsequently. Parathormone showed a mild rise at one hour and normalized subsequently. Total calcium, corrected calcium, and albumin showed decline at one hour and recovered gradually over the next two days. At preoperative level, calcium had significant correlation with parathormone alone. Calcium levels at one hour had significant correlation with calcitonin. All post-operative calcium levels had significant correlation with parathormone and the number of parathyroids preserved in situ without auto-transplantation. There is significant hypocalcemia within the first 24 hr after thyroidectomy, caused by calcitonin release and hypoalbuminemia. Preservation of maximum number of parathyroids in-situ can counter and normalize this hypocalcemia.
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Neonatal hypocalcemia and its relation to vitamin D and calcium supplementation.
Elsary, Asmaa Y; Elgameel, Alkassem A; Mohammed, Wael S; Zaki, Osman M; Taha, Shaimaa A
2018-03-01
To assess the prevalence of hypocalcemia in outpatient clinic neonates and its relation to vitamin D and calcium supplementation. Methods: This cross-sectional analytical study was conducted at the University Teaching Hospital from May to October 2016. Data were collected from 100 neonates by interviewing mothers using a structured questionnaire; which included socio-demographic information, maternal and neonatal history; in addition to investigations of serum calcium total and ionized and serum vitamin D level. Results: The prevalence of hypocalcemia was 76%, late hypocalcemia represent 52% of hypocalcemic neonates. The prevalence of hypovitaminosis D was 38%. Hypocalcemia was found more prevalent among neonates with no history of vitamin D supplementation (98.7%), no history of maternal calcium supplementation (57.9%), while they had a history of neonatal jaundice on phototherapy (46.1%) which increased to 53.8% with late hypocalcemia. Conclusion: Neonatal hypocalcemia is widely prevalent in Fayoum governorate with significant association with a history of neonatal jaundice on phototherapy, not receiving maternal calcium or neonatal vitamin D supplementation.
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Fujikawa, Takahiko; Soya, Hideaki; Tamashiro, Kellie L K; Sakai, Randall R; McEwen, Bruce S; Nakai, Naoya; Ogata, Masato; Suzuki, Ikukatsu; Nakashima, Kunio
2004-04-01
Stress causes hypocalcemia and ulcerogenesis in rats. In rats under stressful conditions, a rapid and transient increase in circulating prolactin (PRL) is observed, and this enhanced PRL induces PRL receptors (PRLR) in the choroid plexus of rat brain. In this study we used restraint stress in water to elucidate the mechanism by which PRLR in the rat brain mediate the protective effect of PRL against stress-induced hypocalcemia and ulcerogenesis. We show that rat PRL acts through the long form of PRLR in the hypothalamus. This is followed by an increase in the long form of PRLR mRNA expression in the choroid plexus of the brain, which provides protection against restraint stress in water-induced hypocalcemia and gastric erosions. We also show that PRL induces the expression of PRLR protein and corticotropin-releasing factor mRNA in the paraventricular nucleus. These results suggest that the PRL levels increase in response to stress, and it moves from the circulation to the cerebrospinal fluid to act on the central nervous system and thereby plays an important role in helping to protect against acute stress-induced hypocalcemia and gastric erosions.
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Hypocalcemia after thyroidectomy in patients with a history of bariatric surgery.
Chereau, Nathalie; Vuillermet, Cindy; Tilly, Camille; Buffet, Camille; Trésallet, Christophe; du Montcel, Sophie Tezenas; Menegaux, Fabrice
2017-03-01
Hypocalcemia is a common complication after total thyroidectomy. Previous bariatric surgery could be a higher factor risk for hypocalcemia due to alterations in calcium absorption and vitamin D deficiency. To evaluate incidence and factors involved in the risk of hypocalcemia (transient and permanent) and the postoperative outcomes of these patients after total thyroidectomy. University hospital in Paris, France. All patients who had previously undergone obesity surgery (i.e., Roux-en-Y gastric bypass, sleeve gastrectomy, or adjustable gastric band) who had a total thyroidectomy from 2006 to 2015 were included. No patient was lost to follow-up. Each patient was matched 1:1 with a patient who had no previous bariatric surgery for age, gender, body mass index, and year of surgery. Forty-eight patients were identified (43 female; mean age 48.9±9.2 yr). Nineteen patients (40%) had a postoperative hypocalcemia: transient in 14 patients (29.2%) and permanent in 5 patients (10.4%). No significant predictive clinical or biochemical factors were found for hypocalcemia risk, except for the type of bariatric procedure: Bypass surgery had a 2-fold increased risk of hypocalcemia compared to others procedures (60% versus 30%, P = .05). In the matched pair analysis, the risk of hypocalcemia was significantly higher in patients with previous bariatric surgery than in the matched cohort (40% versus 15%, P = .006). Patients with previous bariatric surgery have an increased risk for hypocalcemia after total thyroidectomy, especially after Roux-en-Y gastric bypass. Careful and prolonged follow-up of calcium, vitamin D, and parathyroid hormone levels should be suggested for these patients. Copyright © 2017 American Society for Bariatric Surgery. Published by Elsevier Inc. All rights reserved.
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Zangoei Dovvom Samane
2016-05-01
Full Text Available There are several methods to reduce serum bilirubin in neonatal jaundice that the most common of them is phototherapy and this method will cause some side effects which one of them is hypocalcemia that is occurred due to the decreased serum concentration of melatonin. This study was conducted aims to evaluate the effect of covering head on hypocalcemia caused by the phototherapy in the icteric infants in the Vali-e-Asr Hospital in 2015. in this clinical trial study, 60 preterm infants with icterus characteristics were hospitalized in NICU ward of Vali-e-Asr Hospital in Birjand at 2014 that had the inclusion criteria and were selected by available sampling and divided into two test group (30 individuals and control group (30 individuals. Infants of the control group with the routine method and infants of the test group with the use of a hat covering occiput were treated under phototherapy. Serum bilirubin and calcium were checked upon admission, 48 hours after starting phototherapy and 24 hours after discontinuation of phototherapy. Data were analyzed using the statistical software of SPSS 15 and statistical t-test at the significance level of 0.05. results showed that the average age at birth, age at phototherapy, average of bilirubin level and calcium level before intervention in the infants of both test and control groups did not have a significant difference (P>0.05. But 48 hours after starting phototherapy, the average of serum calcium in the infants of test group compared to the control group and 24 hours after discontinuation of phototherapy in the infants of control group was significantly higher (P<0.05. In other words, incidence of hypocalcemia in infants with phototherapy with hat was significantly lower than infants with routine phototherapy. In this study (53 percent of infants of the control group received 58.9 mg intravenous calcium. Only 6% of the infants in the intervention group received 10 mg intravenous calcium. covering the
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Yerram, Prakirthi; Kansagra, Shraddha; Abdelghany, Osama
2017-04-01
Background Denosumab therapy is commonly used for the prevention of skeletal-related events in patients with bone metastasis. However, a common side effect of denosumab is hypocalcemia. Objective The aim of the study is to determine the incidence of hypocalcemia in patients receiving denosumab for prevention of skeletal-related events in bone metastasis and evaluate risk factors for developing hypocalcemia. Methods This was a retrospective medication use evaluation reviewing the incidence of hypocalcemia in patients receiving outpatient denosumab for prevention of skeletal-related events at Yale-New Haven Hospital. Additionally, various risk factors were reviewed to determine their risk of developing hypocalcemia. Results As per Common Terminology Criteria for Adverse Events v4.03, of the 106 patients included in the study population, 37 (35%) patients had an incidence of hypocalcemia within 30 days of denosumab administration. Fourteen patients (13.2%) had an incidence of grade 1, 13 patients (12.3%) had an incidence of grade 2 hypocalcemia, and 7 patients (6.6%) had an incidence of grade 3 hypocalcemia. Grade 4 hypocalcemia occurred in three (2.8%) patients. Calcium supplementation did not decrease the risk of developing hypocalcemia. Patients who had one or more episodes of acute kidney insufficiency were at a higher risk of developing hypocalcemia (odds ratio = 7.5 (95% confidence interval = 1.8-36.3), p = 0.001). Conclusion This study found that the overall incidence of hypocalcemia and severe hypocalcemia was higher than reported in clinical trials. Additionally, calcium supplementation did not have an effect on incidence of hypocalcemia, while patients who experienced acute kidney insufficiency while on denosumab had a higher likelihood of developing hypocalcemia.
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Clinical and laboratorial correlation of postoperative hypocalcemia after extensive thyroidectomy
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Antonio José Gonçalves
Full Text Available The medical records of 84 patients submitted to extensive thyroidectomy from January 1991 to April 1995 were reviewed and the data was analyzed in order to verify a correlation between postoperative laboratories results and physical findings suggestive of hypocalcemia. It was verified that there was hypocalcemia in 51.2 percent of the patients, of which only 18.6 percent presented symptoms. It was concluded that asymptomatic hypocalcemia is frequent in extensive thyroidectomy and a routine screening for serum calcium in the postoperative period following thyroidectomy and calcium reposition must be systematic.
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McKay SiripoomV
2010-03-01
Full Text Available Background. Late transient neonatal hypocalcemia with hyperphosphatemia is potentially life-threatening. The use of dihydroxycholecalciferol in the management of neonatal hypocalcemia is unexplored. Objective. We hypothesized adding dihydroxycholecalciferol to intravenous continuous calcium infusion (CaI will achieve accelerated correction of hypocalcemia. Design/Methods. A controlled double-blind randomized placebo group was organized to compare the addition of dihydroxycholecalciferol to CaI in 3–14 day old neonates presenting with hypocalcemia, hyperphosphatemia and seizures. Ionized calcium and phosphorus were measured to adjust CaI and maintain eucalcemia. Time to resolution of hypocalcemia was defined as time from starting CaI to the first ionized calcium of mmol/L. CaI was discontinued when ionized calcium levels were mmol/L on two measurements and the infant tolerated feeds. Results. Fourteen neonates were studied without statistical difference between groups. Time to correction of hypocalcemia for 1,25 dihydroxycholecalciferol versus placebo was versus hours respectively (. The duration of CaI was versus hours respectively (. Conclusions. The addition of dihydroxycholecalciferol to standard CaI therapy reduced the duration of CaI, but did not reduce the time to correct hypocalcemia in neonates with late transient hypocalcemia.
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Hypocalcemia post denosumab in patients with chronic kidney disease stage 4-5.
Dave, Vatsa; Chiang, Cherie Y; Booth, Jane; Mount, Peter F
2015-01-01
Denosumab, a RANK-ligand inhibitor, is an effective treatment for osteoporosis in postmenopausal women and men. Unlike the bisphosphonates, it is not excreted by the kidney. Little is known, however, about its efficacy and safety in patients with severe chronic kidney disease (CKD). A retrospective study was performed in CKD 4-5D patients from a tertiary referral hospital who were treated with denosumab between 1st January 2011 and 31st March 2014. Data collected included information about the following: CKD stage, fracture history, bone mineral density, serum calcium levels pre and post denosumab treatment, episodes of hypocalcemia, relevant medications and adverse events. Eight patients with CKD-5 and 6 patients with CKD-4 were identified (all female, mean age 77.1 ± 9.9). The mean pre-denosumab calcium value was 2.42 ± 0.12 mmol/l, PTH 20.2 ± 14.7 pmol/l and 25-OH vitamin D 69.1 ± 30.1 nmol/l. After denosumab treatment, 6/8 patients with CKD-5/5D, and 2/5 patients with CKD-4 developed severe hypocalcemia. Two patients developed direct adverse complications of hypocalcemia (seizure, laryngospasm, prolonged QTc). Among the patients who developed hypocalcemia, the median time to serum calcium nadir was 21 days and the median time to correction of hypocalcemia was 71 days. Treatment of hypocalcemia required large doses of oral calcium and calcitriol, and increases in dialysate calcium concentration. A high rate of severe hypocalcemia was observed in patients with advanced CKD treated with denosumab. If denosumab is used in patients with severe CKD, close monitoring and aggressive replacement of calcium and calcitriol is required to avoid the development of hypocalcemia.
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Neonatal hypocalcemia, neonatal seizures, and intellectual disability in 22q11.2 deletion syndrome
Cheung, Evelyn Ning Man; George, Susan R.; Andrade, Danielle M.; Chow, Eva W. C.; Silversides, Candice K.; Bassett, Anne S.
2015-01-01
Purpose Hypocalcemia is a common endocrinological condition in 22q11.2 deletion syndrome. Neonatal hypocalcemia may affect neurodevelopment. We hypothesized that neonatal hypocalcemia would be associated with rare, more severe forms of intellectual disability in 22q11.2 deletion syndrome. Methods We used a logistic regression model to investigate potential predictors of intellectual disability severity, including neonatal hypocalcemia, neonatal seizures, and complex congenital heart disease, e.g., interrupted aortic arch, in 149 adults with 22q11.2 deletion syndrome. Ten subjects had moderate-to-severe intellectual disability. Results The model was highly significant (P < 0.0001), showing neonatal seizures (P = 0.0018) and neonatal hypocalcemia (P = 0.047) to be significant predictors of a more severe level of intellectual disability. Neonatal seizures were significantly associated with neonatal hypocalcemia in the entire sample (P < 0.0001), regardless of intellectual level. There was no evidence for the association of moderate- to-severe intellectual disability with other factors such as major structural brain malformations in this sample. Conclusion The results suggest that neonatal seizures may increase the risk for more severe intellectual deficits in 22q11.2 deletion syndrome, likely mediated by neonatal hypocalcemia. Neonatal hypocalcemia often remains unrecognized until the postseizure period, when damage to neurons may already have occurred. These findings support the importance of early recognition and treatment of neonatal hypocalcemia and potentially neonatal screening for 22q11.2 deletions. PMID:23765047
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The Kenny-Caffey syndrome: growth retardation and hypocalcemia in a young boy.
Lee, W K; Vargas, A; Barnes, J; Root, A W
1983-04-01
A 2-year-old black boy with the Kenny-Caffey syndrome was first evaluated because of growth retardation and hypocalcemia. Hypothalamic-pituitary function was normal. Basal serum somatomedin C levels were normal for age, but did not increase during short-term administration of human growth hormone. Serum immunoreactive parathyroid hormone levels remained inappropriately low during spontaneous and induced hypocalcemia, indicating that hypocalcemia was the consequence of hypoparathyroidism. The manifestations of 15 patients with this syndrome are tabulated.
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D'Alessandro, Nicola; Tramutola, Giuseppe; Fasano, Giovanni Michele; Gilio, Francesco; Iside, Giovanni; Izzo, Maria Lucia; Loffredo, Andrea; Pici, Mariano; Pinto, Margherita; Tramontano, Salvatore; Citro, Giuseppe
2016-01-01
Definitive hypoparathyrodism (hypo-PTH) represents one of the most dangerous complication after total thyroidectomy. Partial or total lesion or accidental removal of parathyroid glands is an unpredictable adverse event, although real incidence is not well defined, such as management of this deficit. We started a prospective evaluation of patients treated with total thyroidectomy in our centre, to identify incidence of hypo-PTH, symptomatic or not, in relation to incidence of early postoperative hypocalcemia in our experience. We prospectively evaluated 177 patients treated for benign and malign pathology, measuring calcium before surgery and calcium and PTH at least three months after surgery. Postoperative hypocalcemia was observed in 37.3% of cases. Eight patients (4.5% of cohort) presented low level of PTH, at mean follow-up of 9.1 months. Positive predictive value for postoperative hypocalcemia was 12.1%, while negative predictive was 95.4%; confirming high sensitivity (100%) and low specificity (65.4%) for detecting hypo-PTH. All patients with late hypo-PTH presented hypocalcemia on early analysis, while no case with normal postoperative calcemia accounted with hypo-PTH: this may indicate calcemia as valid prognostic factor of good gland production, when is in the range. Moreover, isolated analysis is too limited to determine real predictability. Technical standardization represents the best method for prevention of hypo-PTH. Early hypocalcemia is a prognostic factor, even with a low specificity, of deficit of PTH-production. This observation must be related to other known prognostic factors. Postoperative normal calcemia should be a positive prognostic factor of an acceptable PTHfunction, supported by large cohorts. Hypocalcemia, Parathormone, Thyroidectomy.
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Lefkothea Karaviti
2010-01-01
Full Text Available Background. Late transient neonatal hypocalcemia with hyperphosphatemia is potentially life-threatening. The use of 1.25 dihydroxycholecalciferol in the management of neonatal hypocalcemia is unexplored. Objective. We hypothesized adding 1.25 dihydroxycholecalciferol to intravenous continuous calcium infusion (CaI will achieve accelerated correction of hypocalcemia. Design/Methods. A controlled double-blind randomized placebo group was organized to compare the addition of 1.25 dihydroxycholecalciferol to CaI in 3–14 day old neonates presenting with hypocalcemia, hyperphosphatemia and seizures. Ionized calcium and phosphorus were measured to adjust CaI and maintain eucalcemia. Time to resolution of hypocalcemia was defined as time from starting CaI to the first ionized calcium of ≥1.1 mmol/L. CaI was discontinued when ionized calcium levels were ≥1.1 mmol/L on two measurements and the infant tolerated feeds. Results. Fourteen neonates were studied without statistical difference between groups. Time to correction of hypocalcemia for 1,25 dihydroxycholecalciferol versus placebo was 7.2 ± 1.9 versus 11.5 ± 3.4 hours respectively (p=.26. The duration of CaI was 15.0 ± 1.5 versus 24.8 ± 4.4 hours respectively (p=.012. Conclusions. The addition of 1.25 dihydroxycholecalciferol to standard CaI therapy reduced the duration of CaI, but did not reduce the time to correct hypocalcemia in neonates with late transient hypocalcemia.
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Hypothalamic involvement in stress-induced hypocalcemia in rats.
Aou, S; Ma, J; Hori, T
1993-08-20
Although hormonal regulation of blood calcium homeostasis has been intensively investigated in the peripheral organs, the involvement of the central nervous system in calcium regulation is still poorly understood. In the present study, we found that (1) bilateral lesions of the ventromedial nucleus of the hypothalamus (VMH), but not those of the paraventricular hypothalamic nucleus or the lateral hypothalamic area, eliminated immobilization (IMB)-induced hypocalcemia, and (2) electrical stimulation of the VMH decreased the blood calcium level. The results suggest that the VMH has a hypocalcemic function and plays a role in IMB-induced hypocalcemia.
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Amaral, Jennifer M.; Abrams, Steve; Karaviti, Lefkothea; McKay, Siripoom V.
2010-01-01
Background. Late transient neonatal hypocalcemia with hyperphosphatemia is potentially life-threatening. The use of dihydroxycholecalciferol in the management of neonatal hypocalcemia is unexplored. Objective. We hypothesized adding dihydroxycholecalciferol to intravenous continuous calcium infusion (CaI) will achieve accelerated correction of hypocalcemia. Design/Methods. A controlled double-blind randomized placebo group was organized to compare the addition of dihydroxycholecalciferol ...
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Iizumi, Sakura; Shimoi, Tatsunori; Nishikawa, Tadaaki; Kitano, Atsuko; Sasada, Shinsuke; Shimomura, Akihiko; Noguchi, Emi; Yunokawa, Mayu; Yonemori, Kan; Shimizu, Chikako; Fujiwara, Yasuhiro; Tamura, Kenji
2017-11-01
Hypocalcemia is a significant adverse effect of denosumab. We herein report a case of prolonged hypocalcemia in a patient with multiple risk factors for hypocalcemia, including gastrectomy, increased bone turnover, and a poor performance status. Hypocalcemia developed after denosumab treatment for diffuse bone metastasis of gastric cancer, despite oral supplementation with vitamin D and calcium. To avoid serious prolonged hypocalcemia, a thorough assessment of the bone calcium metabolism is required before initiating denosumab treatment.
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Kaya, Cafer; Tam, Abbas Ali; Dirikoç, Ahmet; Kılıçyazgan, Aylin; Kılıç, Mehmet; Türkölmez, Şeyda; Ersoy, Reyhan; Çakır, Bekir
2016-10-01
Primary hyperparathyroidism (PHP) is a common endocrine disease, and its most effective treatment is surgery. Postoperative hypocalcemia is a morbidity of parathyroid surgeries, and it may extend hospitalization durations. The purpose of this study is to determine the predictive factors related to the development of hypocalcemia and hungry bone syndrome (HBS) in patients who underwent parathyroidectomy for PHP. Laboratory data comprising parathyroid hormone (PTH), calcium, phosphate, 25-OHD, albumin, magnesium, alkaline phosphatase (ALP), blood urea nitrogen (BUN), and thyroid stimulating hormone (TSH) of the patients were recorded preoperatively, on the 1st and 4th days postoperatively, and in the 6th postoperative month, and their neck ultrasound (US) and bone densitometry data were also recorded. Hypocalcemia was seen in 63 patients (38.4%) on the 1st day after parathyroidectomy. Ten patients (6.1%) had permanent hypocalcemia in the 6th month after surgery. Out of the patients who underwent parathyroidectomy for PHP, 22 (13.4%) had HBS. The incidence of postoperative hypocalcemia was higher in patients who underwent parathyroidectomy for PHP, who had parathyroid hyperplasia, and who had osteoporosis. Preoperative PTH, ALP, and BUN values were higher in those patients who developed HBS. Furthermore, HBS was more common in patients who had osteoporosis, who had parathyroid hyperplasia, and who underwent thyroidectomy simultaneously with parathyroidectomy. As a result, patients who have the risk factors for development of hypocalcemia and HBS should be monitored more attentively during the perioperative period.
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Papadopoulou, Anna; Gole, Evangelia; Melachroinou, Katerina; Trangas, Theoni; Bountouvi, Evaggelia; Papadimitriou, Anastasios
2017-04-01
Autosomal dominant hypocalcemia (ADH) is a rare familial or sporadic syndrome associated with activating mutations in the calcium sensing receptor (CaSR) gene. The aim of this study was to assess the functional significance of a novel CaSR mutation and, moreover, to present the clinical characteristics and the bone mineral density (BMD) progression from early childhood to late puberty in a patient with ADH. Genetic analysis of the CaSR gene was performed in a patient who presented in the neonatal period with hypocalcemic seizures and biochemical features of ADH. The functional impact of the novel mutation identified was assessed in cultured HEK 293T cells, transfected with either the wild type (WT) or mutant CaSR, by evaluating intracellular calcium ([Ca2+]i) influx after stimulation with extracellular calcium (Ca2+). Several BMD measurements were performed during the patient's follow-up until late puberty. A novel CaSR mutation (p.L123S) was identified, which, as demonstrated by functional analysis, renders CaSR more sensitive to extracellular changes of Ca2+ compared with the WT, although the difference is not statistically significant. BMD measurements, from early childhood to late puberty, revealed high normal to elevated BMD. We present the first Greek patient, to our knowledge, with sporadic ADH due to a novel gain-of-function mutation of the CaSR gene.
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Ana O. Hoff
1999-12-01
Full Text Available The calcium-sensing receptor (CaR is a G-proteincoupled receptor that is widely expressed, has tissuespecific functions, regulates cell growth. Activating mutations of this receptor cause autosomal dominant hypocalcemia, a syndrome characterized by hypocalcemia and hypercalciuria. The identification of a family with an activating mutation of the CaR (Thr151 Met in which hypocalcemia cosegregates with several unusual neoplasms led us to examine the transforming effects of this mutant receptor. Transfection of NIH/3T3 cells with the mutant but not the normal receptor supported colony formation in soft agar at subphysiologic calcium concentrations. The mutant CaR causes a calcium-dependent activation of the extracellular signal-regulated protein kinase (ERK 1/2 and Jun-N-terminal kinase/stress-activated (JNK/ SAPK pathways, but not P38 MAP kinase. These findings contribute to a growing body of information suggesting that this receptor plays a role in the regulation of cellular proliferation, that aberrant activation of the mutant receptor in this family may play a role in the unusual neoplastic manifestations.
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Carter, Yvette; Chen, Herbert; Sippel, Rebecca S.
2013-01-01
Background Symptomatic hypocalcemia after thyroidectomy is a barrier to same day surgery, and the cause of ER visits. A standard protocol of calcium and vitamin D supplementation, dependent on intact parathyroid hormone (iPTH) levels, can address this issue. How effective is it? When does it fail? Methods We performed a retrospective review of the prospective Thyroid Database from January 2006 to December 2010. 620 patients underwent completion (CT) or total thyroidectomy (TT), and followed our post-operative protocol of calcium carbonate administration for iPTH levels ≥10pg/ml and calcium carbonate and 0.25μg calcitriol BID for iPTH hypocalcemia. The symptomatic (SX) and asymptomatic (ASX) groups were similar with regard to gender, cancer diagnosis, and pre-operative calcium and iPTH. The symptomatic group was significantly younger (39.6 ± 2.8 vs. 49 ± 0.6 years, p=0.01), with lower post-operative iPTH levels. 33% (n=8) of SX patients had an iPTH ≤5 pg/ml vs. only 6% (n=37) of ASX patients. While the majority of patients with a PTH hypocalcemia after thyroidectomy. An iPTH ≤ 5pg/ml may warrant higher initial doses of calcitriol in order to prevent symptoms. PMID:24144426
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Calcium Unresponsive Hypocalcemic Tetany: Gitelman Syndrome with Hypocalcemia
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Madhav Desai
2013-01-01
Full Text Available Introduction. Gitelman’s syndrome (GS is autosomal recessive renal tubular disorder characterized by hypokalemia, hypomagnesemia, hypocalciuria, metabolic alkalosis, and hyperreninemic hyperaldosteronism. It is usually associated with normal serum calcium. We report a patient presented with hypocalcemic tetany, and evaluation showed Gitelman’s syndrome with hypocalcemia. Case Report. A 28-year-old woman presented with cramps of the arms, legs, fatigue, and carpal spasms of one week duration. She has history of similar episodes on and off for the past two years. Her blood pressure was 98/66 mmHg. Chvostek’s sign and Trousseau’s sign were positive. Evaluation showed hypokalemia, hypocalcemia, hypomagnesemia, metabolic alkalosis, and hypocalciuria. Self-medication, diuretic use, laxative abuse, persistent vomiting, and diarrhoea were ruled out. Urinary prostaglandins and genetic testing could not be done because of nonavailability. To differentiate Gitelman syndrome from Bartter’s syndrome (BS, thiazide loading test was done. It showed blunted fractional chloride excretion. GS was confirmed and patient was treated with spironolactone along with magnesium, calcium, and potassium supplementation. Symptomatically, she improved and did not develop episodes of tetany again. Conclusion. In tetany patient along with serum calcium measurement, serum magnesium, serum potassium, and arterial blood gases should be measured. Even though hypocalcemia in Gitelman syndrome is rare, it still can occur.
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Salinger, Eric M; Moore, John T
2013-12-01
Hypocalcemia is a common complication of thyroidectomy. The aim of this study was to identify risk factors for this problem. This prospective analysis included 111 patients undergoing total or completion thyroidectomy. Preoperative vitamin D levels and postoperative day 1 parathyroid hormone levels were analyzed for their predictive effects on postoperative hypocalcemia. Patients with ionized calcium hypocalcemia. Younger age and low postoperative parathyroid hormone levels are predictive of symptomatic hypocalcemia. A parathyroid hormone level outside of the reference range may indicate a need for more aggressive postoperative calcium supplementation and treatment with activated vitamin D. Older patients with normal postoperative parathyroid hormone levels may be safely discharged with appropriate calcium supplementation. Copyright © 2013 Elsevier Inc. All rights reserved.
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A rare case of hypocalcemia induced by nilotinib
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Marija Petrić
2017-03-01
Full Text Available Chronic myelogenous leukemia (CML is a myeloproliferative disorder characterized by increased proliferation of predominantly myeloid cells in the bone marrow and their accumulation in the peripheral blood. Nowadays, drugs known as tyrosine kinase inhibitors (TKIs are the standard treatment for CML. Since TKIs specifically target BCR-ABL, the activated tyrosine kinase fusion protein, they are expected to cause less hematological and nonhematological side effects than medications used before. We report a case of a 61-year-old patient treated with the second-generation TKI, nilotinib, that presented with very common side effects (skin rash, myalgia, and paresthesia, and also with rare, but severe hypocalcemia and potentially dangerous and fatal QTc elongation.
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Directory of Open Access Journals (Sweden)
Anne Qvist Rasmussen
2018-04-01
Full Text Available The human calcium-sensing receptor (CASR is the key controller of extracellular Cao2+ homeostasis, and different mutations in the CASR gene have been linked to different calcium diseases, such as familial hypocalciuric hypercalcemia, severe hyperparathyroidism, autosomal-dominant hypocalcemia (ADH, and Bartter’s syndrome type V. In this study, two generations of a family with biochemically and clinically confirmed ADH who suffered severe muscle pain, arthralgia, tetany, abdominal pain, and fatigue were evaluated for mutations in the CASR gene. The study comprises genotyping of all family members, functional characterization of a potential mutant receptor by in vitro analysis related to the wild-type receptor to reveal an association between the genotype and phenotype in the affected family members. The in vitro analysis of functional characteristics includes measurements of inositol trisphosphate accumulation, Ca2+ mobilization in response to [Ca2+]o-stimulation and receptor expression. The results reveal a significant leftward shift of inositol trisphosphate accumulation as a result of the “gain-of-function” mutant receptor and surprisingly a normalization of the response in (Ca2+i release in the downstream pathway and additionally the maximal response of (Ca2+i release was significantly decreased compared to the wild type. However, no gross differences were seen in D126V and the D126V/WT CASR dimeric >250 kDa band expression compared to the WT receptor, however, the D126V and D126V/WT CASR immature ~140 kDa species appear to have reduced expression compared to the WT receptor. In conclusion, in this study, a family with a clinical diagnosis of ADH in two generations was evaluated to identify a mutation in the CASR gene and reveal an association between genotype and phenotype in the affected family members. The clinical condition was caused by a novel, activating, missense mutation (D126V in the CASR gene and the in vitro functional
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Higaki, Masato; Tanemoto, Masayuki; Shiraishi, Takeshi; Taniguchi, Kei; Fujigaki, Yoshihide; Uchida, Shunya
2015-01-01
Hypocalcemia is an important complication of rhabdomyolysis for which several pathogenic factors, including acute kidney injury (AKI), have been proposed. To gain insight regarding the hypocalcemic roles of AKI in rhabdomyolysis, we retrospectively examined patients with rhabdomyolysis. Of 28,387 patients admitted to the Department of Internal Medicine, 51 patients met the inclusion criteria for the study. Serum calcium was analyzed based on laboratory data including indicators of AKI, serum creatine kinase (CK) and serum inorganic phosphate (iP). Twenty-two patients (43%) had hypocalcemia. Compared with patients without hypocalcemia, they had a higher prevalence of AKI (82 vs. 55%; p = 0.046), higher levels of peak CK (39,100 ± 50,600 vs. 9,800 ± 11,900 IU/l; p = 0.003) and higher levels of peak iP (1.77 ± 1.10 vs. 1.10 ± 0.35 mmol/l; p = 0.007). Indicators of AKI were correlated with peak CK and peak iP and were not significant variables in the regression analysis for hypocalcemia. Peak CK and peak iP were not correlated with each other. Impaired phosphate use by muscle contributed to the increased iP. These findings indicate that muscle damage is the primary hypocalcemic factor in rhabdomyolysis. AKI facilitated hypocalcemia by exacerbating the hyperphosphatemic effects of muscle damage. Aggressive hydration, which could increase oxygen supply and subsequently repair phosphate use in muscle, might reduce the incidence of hypocalcemia in rhabdomyolysis. © 2015 S. Karger AG, Basel.
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Barrêto-Júnior, Raimundo A.; Minervino, Antonio H.; Rodrigues, Federico A.; Meira Júnior, Enoch B.; Lima, Alessandra; Sousa, Rejane; Mori, Clara; Araújo, Carolina A.; R.Fernandes, Wilson; Ortolani, Enrico
2017-01-01
ABSTRACT: The aim of this study was to examine the clinical presentation, biochemical profile and response to treatment among horses with experimentally-induced hypocalcemia. Twelve adult, mixed breed mares were used. A 5% ethylenediaminetetraacetic acid disodium (Na2EDTA) solution was infused into all the mares until the animals presented clinical signs of hypocalcemia, at which point they were divided into a control group (n = 5) and a treatment group (n = 7). The treated group received an ...
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Symptomatic Hypocalcemia Associated with Zoledronic Acid Treatment for Osteoporosis: A Case Report
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Abdulmohsen H. Al Elq
2013-03-01
Full Text Available Intravenous bisphosphonates are widely used in the management of solid tumors, metastatic bone disease, metabolic bone diseases and hypercalcemia of malignancies. Recently, yearly intravenous injections of zoledronic acid, one of the potent nitrogen-containing bisphosphonates, have also been approved for the prevention and treatment of osteoporosis. Although infrequently observed, asymptomatic hypocalcemia mainly due to intravenous bisphosphonates has been documented. Here we report a female patient who exhibited profound symptomatic hypocalcemia after receiving intravenous zoledronic acid as treatment of postmenopausal osteoporosis. The patient was not assessed for calcium status prior to the intravenous bisphosphonate therapy, and she was later found to have severe vitamin D deficiency. To our knowledge, this is the first patient with symptomatic hypocalcemia to be reported after zoledronic acid was approved for the management of osteoporosis. We highlight the importance of evaluating calcium and vitamin D levels before initiating intravenous bisphosphonate treatment, particularly in the presence of widespread vitamin D deficiency and the likelihood of future increases in the prescription of intravenous bisphosphonates.
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Early prediction of post-thyroidectomy hypocalcemia by early parathyroid hormone measurement.
Yetkin, Gurkan; Citgez, Bulent; Yazici, Pinar; Mihmanli, Mehmet; Sit, Erhan; Uludag, Mehmet
2016-01-01
Hypoparathyroidism is the most common complication of total thyroidectomy (TT). Postthyroidectomy hypocalcemia occurs 24 to 48 hours after the operation. It prolongs the length of hospital stay, even though transient in most cases. The aim of this study was to predetermine the patients who may develop postthyroidectomy hypocalcemia by using early postoperative serum intact parathormone (iPTH) and calcium (Ca2+) measurements, and to investigate the effects of early initiated oral calcium and vitamin D treatments on the development of transient hypocalcemia. Patients who underwent TT after initiation of the early iPTH measurement protocol in January 2013 were included into the study group (Group 1, n=202). The control group (Group 2) was composed of 72 patients who underwent TT before the protocol. Prior to the initiation of the protocol, Ca2+ was measured instead of iPTH. In the study group, the serum Ca2+ and iPTH levels were measured before surgery, and 1 and 24-hours after. A calcium level below 8 mg/dL was accepted as biochemical hypocalcaemia, and a iPTH level under 15pg/mL was accepted as hypoparathyroidism. In the study group, patients with below normal iPTH levels were treated with prophylactic oral calcium and vitamin D. In Group 1, 15.8% (n=32) of the patients had hypoparathyroidism on the 1h and 24 h iPTH measurements. There was no statistically difference with regard to PTH levels measured in the postoperative 1st hour and at the 24th hour (p= 0.078). Biochemical hypocalcaemia developed in 16 (7.9%) and 13 (18%) patients in Groups 1 and 2, respectively, 24 hours after thyroidectomy (peffective management of plausible postthyroidectomic hypocalcemia. It yields significantly shorter hospital stay periods. Calcium, Hypoparathyroidism, Postoperative complication, Total thyroidectomy.
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Kim, Jin Pyeong; Park, Jung Je; Son, Hee Young; Kim, Rock Bum; Kim, Ho Youp
2013-01-01
Purpose Hypocalcemia is the most common complication after total thyroidectomy. The purpose of this study was to determine whether measurement of intact parathyroid hormone (i-PTH) level in thyroidectomy patients could predict hypocalcemia. Materials and Methods We performed a prospective study of patients undergoing total thyroidectomy. Serum concentration of i-PTH, total calcium (Ca), ionized calcium (Ca2+), phosphate (P), magnesium (Mg), and albumin were measured preoperatively and at 0 hour, 6 hours, 12 hours, 24 hours, 48 hours, and 72 hours postoperatively. Results 108 patients were recruited to the study. A total of 50 patients (46%) experienced hypocalcemia. The serum i-PTH concentration was linearly related to the time of measurement, while concentrations of P, Mg, albumin, Ca, and Ca2+ were not. We compared odds ratios, and found that the concentration of i-PTH at 6 hours post operation was the most closely related to the occurrence of hypocalcemic symptom. On ROC analysis using i-PTH level at 6 hours, an i-PTH level of 10.6 mg/dL was found to maximize both sensitivity and specificity at the same time point. Conclusion We found that i-PTH was a predictor of hypocalcemia, and that the earliest predictor of hypocalcemic symptoms was an i-PTH concentration lower than 10.6 mg/dL obtained 6 hours after total thyroidectomy. PMID:23549808
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Antakia, Ramez; Edafe, Ovie; Uttley, Lesley; Balasubramanian, Saba P
2015-01-01
A variety of measures have been proposed to reduce the incidence of post-thyroidectomy hypocalcemia. The aim of this study was to perform a systematic review and meta-analysis of preventive and other surgical measures on post-thyroidectomy hypocalcemia as reported in the literature. Comprehensive searches of the PubMed, EMBASE, and Cochrane databases were performed, and the quality of included papers was assessed using the Cochrane risk of bias tool or a modified Newcastle-Ottawa Scale (NOS). The results of all included studies were summarized, and meta-analyses were performed where appropriate. Thirty-nine randomized controlled trials (RCTs) and 37 observational studies were included. Measures studied included hemostatic techniques, extent of thyroidectomy and central neck dissection, surgical approach, calcium/vitamin D/thiazide diuretic supplements, parathyroid gland autotransplantation (PGAT) and intraoperative parathyroid gland (PG) identification, truncal ligation of inferior thyroid artery (ITA), preoperative magnesium infusion, and use of magnification loupes and Surgicel. Measures associated with significantly lower rates of transient hypocalcemia in meta-analysis were postoperative calcium and vitamin D supplementation compared to either calcium supplements alone (odds ratio (OR) 0.66; p=0.04) or no supplements (OR 0.34; p=0.007), and bilateral subtotal thyroidectomy (BST) compared to Hartley Dunhill (HD) procedure (OR 0.35; p=0.01). Meta-analyses did not demonstrate any measure to be significantly associated with a reduction in permanent hypocalcemia. This review identified postoperative calcium and vitamin D supplementation and bilateral subtotal thyroidectomy (over HD) as being effective in prevention of transient hypocalcemia. However, the majority of RCTs were of low quality, primarily due to a lack of blinding. The wide variability in study design, definitions of hypocalcemia, and methods of assessment prevented meaningful summation of results for
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Is calcitonin an active hormone in the onset and prevention of hypocalcemia in dairy cattle?
Rodríguez, E M; Bach, A; Devant, M; Aris, A
2016-04-01
The objective of this study was to assess the potential importance of calcitonin (CALC) in the onset of subclinical hypocalcemia (experiment 1) and in the physiological mechanisms underlying the prevention of bovine hypocalcemia under metabolic acidosis (experiments 2 and 3). In experiment 1, 15 Holstein cows naturally incurring subclinical hypocalcemia during the first 5d postpartum were classified as low subclinical hypocalcemia (LSH) when blood Ca concentrations were between 7.5 and 8.5mg/dL, or as high subclinical hypocalcemia (HSH) when blood Ca concentrations were between 6.0 and 7.6 mg/dL. Blood samples were taken daily from d -5 to 5 relative to parturition to determine concentrations of parathyroid hormone (PTH), CALC, and 1,25(OH)2D3. In experiment 2, 24 Holstein bulls (497 ± 69 kg of body weight and 342 ± 10.5d of age) were assigned to 2 treatments (metabolic acidosis or control). Metabolic acidosis was induced by an oral administration of ammonium chloride (2.5 mEq/d) during 10 d, and animals were slaughtered thereafter. Blood samples were collected before slaughter to determine CALC, PTH, 1,25(OH)2D3, and samples of urine, kidney, parathyroid, and thyroid glands were obtained immediately after slaughter to determine expression of several genes in these tissues. Last, in experiment 3, we tested the activity of CALC under metabolic acidosis in vitro using breast cancer cell (T47D) cultures. Although PTH tended to be greater in HSH than in LSH, the levels of 1,25(OH)2D3 were lower in HSH cows (experiment 1). Blood CALC concentration was not affected by the severity of subclinical hypocalcemia, but it was influenced by days from calving (experiment 1). The expression of PTH receptor (PTHR) in the kidney was increased under metabolic acidosis (experiment 2). Furthermore, the activity of CALC was impaired under acidic blood pH (experiment 3). In conclusion, the CALC rise in HSH cows after calving impaired the recovery of blood Ca concentrations because the
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Alphonsus N. Onyiriuka
2017-11-01
Full Text Available Subcutaneous fat necrosis of the newborn (SCFNN is a rare benign inflammatory disorder of the adipose tissue but may be complicated by hypercalcemia or less frequently, hypocalcemia, resulting in morbidity and mortality. Here we report the case of a neonate with subcutaneous fat necrosis who surprisingly developed hypocalcemia instead of hypercalcemia. A full-term female neonate was delivered by emergency cesarean section for fetal distress and was subsequently admitted to the Special Care Baby Unit. The mother’s pregnancy was uncomplicated up to delivery. Her anthropometric measurements were birth weight 4.1 kg (95th percentile, length 50 cm (50th percentile, and head circumference 34.5 cm (50th percentile. The Apgar scores were 2, 3, and 8 at 1, 5, 10 minutes, respectively. There was no abnormal facies and she was fed with breast milk only. On the seventh day of life, the infant was found to have multiple nodules located in the neck, upper back, and right arm. The nodules were firm, well circumscribed with no evidence of tenderness. Her total serum calcium level was 1.55 mmol/L (normal range 2.2 to 2.7 mmol/L and this was associated with hypotonia and poor sucking reflex. The packed cell volume was 40%. The serum albumin and blood glucose levels were normal. Her blood culture was sterile. A clinical diagnosis of hypocalcemia associated with SCFNN was made. The infant was treated for hypocalcemia (using calcium gluconate and was carefully followed-up. The skin lesions resolved completely three months after their eruption. Repeat serum calcium measurements at three, six, and nine months of age were all within normal limits. Although SCFNN is a rare benign clinical condition, it may be complicated by hypocalcemia. Therefore, periodic measurements of the serum calcium levels is warranted in such a patient, beginning from the neonatal period up to the age of six months.
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Edite Marques Mendes
2018-01-01
Full Text Available Hypoparathyroidism is a rare endocrine disorder characterized by low serum calcium and parathyroid hormone levels. The most common cause is parathyroid iatrogenic surgical removal. However, innumerous and rarer conditions can cause hypoparathyroidism. The authors describe a 27-year-old man that presented in emergency department with confusion, amnesia and decreased attention span. A cerebral computed tomography revealed bilateral extensive calcification in the basal ganglia. A complete work-up revealed low serum calcium, high serum phosphorus and low parathyroid hormone, leading to the diagnosis of idiopathic primary hypoparathyroidism. Initial intravenous therapy with calcium gluconate and calcitriol was administered, with clinical and analytical improvement. The authors describe a rare condition, with an exuberant cerebral presentation and extreme hypocalcemia, which did not directly correlate to the severity of symptoms. Not only this is a treatable disorder that may have catastrophic results if overlooked but also its symptoms may be completely reversed with prompt treatment.
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Alhefdhi, Amal; Mazeh, Haggi
2013-01-01
Background. Transient hypocalcemia is a frequent complication after total thyroidectomy. Routine postoperative administration of vitamin D and calcium can reduce the incidence of symptomatic postoperative hypocalcemia. We performed a systematic review to assess the effectiveness of this intervention. The primary aim was to evaluate the efficacy of routine postoperative oral calcium and vitamin D supplementation in preventing symptomatic post-thyroidectomy hypocalcemia. The second aim was to draw clear guidelines regarding prophylactic calcium and/or vitamin D therapy for patients after thyroidectomy. Methods. We identified randomized controlled trials comparing the administration of vitamin D or its metabolites to calcium or no treatment in adult patients after thyroidectomy. The search was performed in PubMed, Cochrane Library, Cumulative Index to Nursing and Allied Health Literature, Google Scholar, and Web of Knowledge databases. Patients with a history of previous neck surgery, calcium supplementation, or renal impairment were excluded. Results. Nine studies with 2,285 patients were included: 22 in the vitamin D group, 580 in the calcium group, 792 in the vitamin D and calcium group, and 891 in the no intervention group, with symptomatic hypocalcemia incidences of 4.6%, 14%, 14%, and 20.5%, respectively. Subcomparisons demonstrated that the incidences of postoperative hypocalcemia were 10.1% versus 18.8% for calcium versus no intervention and 6.8% versus 25.9% for vitamin D and calcium versus no intervention. The studies showed a significant range of variability in patients' characteristics. Conclusions. A significant decrease in postoperative hypocalcemia was identified in patients who received routine supplementation of oral calcium or vitamin D. The incidence decreased even more with the combined administration of both supplements. Based on this analysis, we recommend oral calcium for all patients following thyroidectomy, with the addition of vitamin D for
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Simons, Malorie; Bautista, Josef; Occhiogrosso, Rachel; Scott-Sheldon, Lori Aj; Gohh, Reginald
2017-06-01
Secondary hyperparathyroidism is a common complication of chronic kidney disease. When medical management fails, parathyroidectomy (PTX) is a treatment option. The two most common types are subtotal PTX and total PTX with autotransplantation (AT). To date, there is no consensus as to which procedure is preferable, especially in patients who are candidates for future kidney transplantation. The aim of this study was to identify if the type of PTX is a risk factor for acute postrenal transplant (postRTX) hypocalcemia and a concern for problems with long-term calcium homeostasis. Renal transplant recipients at Rhode Island Hospital from 2005 to 2014 were screened for prior PTX. Out of 297 participants, 11 patients met the criteria. They were further divided into subtotal PTX (n = 5) vs. total PTX+AT (n = 6). Immediate postoperative (14 days) and long-term (1 year) calcium levels were followed and analyzed. Linear growth models were used to determine the effects of type of parathyroidectomy (subtotal PTX, total PTX+AT) alone on hypocalcemia over time. In these models, pretransplant levels of calcium and PTH were included as covariates. Baseline characteristics showed that prerenal transplant (preRTX) parathyroid hormone (PTH) levels were lower in total PTX+AT vs. subtotal PTX (3.5 vs. 247.2 mg/dL, p Figure 1) but not at 1 year postRTX (β = 0.035, SE = 0.075, p = 0.640). This study suggests that total PTX+AT increases the risk for acute postRTX hypocalcemia but has no effect on long-term calcium homeostasis. We speculate that the acuity of the hypocalcemia may be compounded by high-dose glucocorticoids required for induction, in addition to the preoperative undetectable PTH. Thus, prior to RTX, physicians should take into account the type of remote PTX. If a patient had a total PTX+AT, then postRTX hypocalcemia is likely to occur. .
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Ozemir, Ibrahim Ali; Buldanli, Mehmet Zeki; Yener, Oktay; Leblebici, Metin; Eren, Tunc; Baysal, Hakan; Alimoglu, Orhan
2016-01-01
OBJECTIVE: The present study evaluated effects of incidental parathyroidectomy, surgical technique, and presence of thyroiditis or hyperthyroidism on occurrence of postoperative persistent or transient hypocalcemia. METHODS: Patients who underwent thyroidectomy at ?stanbul Medeniyet University between 2013 and 2015 were included in the study. Patient information, postoperative serum calcium levels, and pathology reports were investigated retrospectively. Group 1 was made up of patients who we...
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Reiche, Maria Agnes
2012-01-01
Periparturient hypocalcemia belongs to the most important mineral metabolism dysfunctions in dairy cows. The incidence of subclinical hypocalcemia in the USA is given with 25% in heifers and up to 40 to 50 % in older cows (Reinhardt et al. 2010), the incidence of clinical symptoms (downer cow syndrome) is given with 5-10% (DeGaris und Lean 2008; Goff 2008). Hence manifold prophylaxis and therapy concepts to prevent periparturient paresis are established in current practice in dairy cattle hus...
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DEFF Research Database (Denmark)
Mace, Maria L; Gravesen, Eva; Nordholm, Anders
2018-01-01
hypocalcemia. We demonstrated that FGF23 rapidly inhibited PTH secretion and that this effect was completely blocked by inhibition of the FGF receptor. Furthermore, inhibition of the FGF receptor by itself significantly increased PTH levels, indicating that FGF23 has a suppressive tonus on the parathyroid...... gland's PTH secretion. In acute hypocalcemia, there was no effect of either recombinant FGF23 or FGF receptor inhibition on the physiological response to the low ionized calcium levels. In conclusion, FGF23 has an inhibitory tonus on PTH secretion in normocalcemia and signals through the FGF receptor....... In acute hypocalcemia, when increased PTH secretion is needed to restore the calcium homeostasis, this inhibitory effect of FGF23 is abolished....
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Genes and Mutations Causing Autosomal Dominant Retinitis Pigmentosa
Daiger, Stephen P.; Bowne, Sara J.; Sullivan, Lori S.
2015-01-01
Retinitis pigmentosa (RP) has a prevalence of approximately one in 4000; 25%–30% of these cases are autosomal dominant retinitis pigmentosa (adRP). Like other forms of inherited retinal disease, adRP is exceptionally heterogeneous. Mutations in more than 25 genes are known to cause adRP, more than 1000 mutations have been reported in these genes, clinical findings are highly variable, and there is considerable overlap with other types of inherited disease. Currently, it is possible to detect disease-causing mutations in 50%–75% of adRP families in select populations. Genetic diagnosis of adRP has advantages over other forms of RP because segregation of disease in families is a useful tool for identifying and confirming potentially pathogenic variants, but there are disadvantages too. In addition to identifying the cause of disease in the remaining 25% of adRP families, a central challenge is reconciling clinical diagnosis, family history, and molecular findings in patients and families. PMID:25304133
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Directory of Open Access Journals (Sweden)
Se Young Kim
2015-12-01
Full Text Available It is important to fast diagnosis and management of the pediatric patients of the endocrine metabolic emergencies because the signs and symptoms of these disorders are nonspecific. Delayed diagnosis and treatment may lead to serious consequences of the pediatric patients, for example, cerebral dysfunction leading to coma or death of the patients with hypoglycemia, hypocalcemia, adrenal insufficiency, or diabetic ketoacidosis. The index of suspicion of the endocrine metabolic emergencies should be preceded prior to the starting nonspecific treatment. Importantly, proper diagnosis depends on the collection of blood and urine specimen before nonspecific therapy (intravenous hydration, electrolytes, glucose or calcium injection. At the same time, the taking of precise history and searching for pathognomonic physical findings should be performed. This review was described for fast diagnosis and proper management of hypoglycemic emergencies, hypocalcemia, adrenal insufficiency, and metabolic acidosis including diabetic ketoacidosis.
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Caixeta, L S; Ospina, P A; Capel, M B; Nydam, D V
2017-05-01
The objective of this study was to determine the effects of subclinical hypocalcemia on reproductive performance in dairy cows. In a prospective cohort study, 97 cows on 2 dairy farms with automatic milking systems were monitored for subclinical hypocalcemia. Animals were enrolled 7 ± 3 days prior to estimated calving date and three parity groups were defined based on the lactation that the animals were going to start: lactation = 1, lactation = 2, and lactation ≥3. Serum calcium concentration (Ca) was measured in all animals in the first 3 DIM and subclinical hypocalcemia (SCH) was defined as Ca ≤ 8.6 mg/dL; animals that presented a low Ca level during all 3 days were classified as chronic SCH (cSCH). Return to cyclicity during the voluntary waiting period was analyzed based on weekly progesterone concentrations measured in serum. Information on reproductive outcomes (i.e., number of breedings, pregnancy status, days open, etc.), were collected from on-farm software after all study cows had completed their study period. Chronic SCH was present in all parity groups with higher incidence in multiparous animals (20% of parity = 1, 32% of parity = 2; and 46% of parity ≥ 3 animals). The cSCH animals took longer to show active ovaries when compared to eucalcemic and SCH animals. In a multivariable Cox's Proportional Hazard model animals with normal Ca were 1.8 times more likely to return to cyclicity by the end of the voluntary waiting period when compared to cSCH animals. Animals with cSCH also had 0.27 odds of being pregnant at first service compared to eucalcemic cows when analyzed by multivariable logistic regression. Subclinical hypocalcemia had a negative effect on return of ovarian function during the voluntary waiting period and decreased the odds of pregnancy at first service. Those cows with cSCH had an even more pronounced impaired reproductive function than those with one subclinical measurement. Copyright © 2017 Elsevier Inc. All
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Two unusual cases of severe recalcitrant hypocalcemia due to aminoglycoside-induced hypomagnesemia
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Tarun Varma
2013-01-01
Full Text Available Aminoglycoside (AMG-induced renal toxicity is well-known and may manifest with non-oliguric renal failure or renal tubular dysfunction like Fanconi-like syndrome, Barter syndrome-like syndrome or distal renal tubular acidosis (RTA. These phenomena have been described with Gentamycin and Amikacin though rarely with Kanamycin. We present two cases of pulmonary tuberculosis that were treated with Kanamycin and during the course of treatment, developed severe recalcitrant hypocalcemia along with hypomagnesemia.
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Goltzman, D; Tannenbaum, G S
1987-07-21
Calcitonin (CT), when administered peripherally, is a potent hypocalcemic agent. This peptide can also exert a variety of profound effects through brain receptors after central injection. We examined the capacity of CT to alter plasma calcium of freely moving conscious rats after intracerebroventricular (i.c.v.) injection. A dose-dependent decrease in plasma calcium was seen after administration of 25 ng, 250 ng or 2500 ng of salmon calcitonin (sCT). The extent and duration of hypocalcemia after central injection was equal to, or greater than, that seen after giving the same doses of peptide intravenously (i.v.). Calcitonin gene-related peptide (CGRP), when administered centrally at a 50-fold molar excess, produced only a transient decrease in plasma calcium. No increase in plasma levels of sCT could be detected by RIA after i.c.v. injection, although measurable levels were obtained by i.v. injection. Centrally administered sCT did not appear to produce hypocalcemia by enhancing the release of endogenous rat CT. In contrast to the rise in rat immunoreactive parathyroid hormone (PTH) seen after i.v. injection of sCT, no significant elevation occurred after central administration of the peptide despite induction of comparable levels of hypocalcemia. Consequently, reduced PTH release may contribute to the central hypocalcemic action of CT. The results indicate that peptides acting through the brain CT receptor may modulate peripheral blood calcium.
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Wang, Florence T; Xue, Fei; Ding, Yan; Ng, Eva; Critchlow, Cathy W; Dore, David D
2018-04-10
Post-marketing safety studies of medicines often rely on administrative claims databases to identify adverse outcomes following drug exposure. Valid ascertainment of outcomes is essential for accurate results. We aim to quantify the validity of diagnostic codes for serious hypocalcemia and dermatologic adverse events from insurance claims data among women with postmenopausal osteoporosis (PMO). We identified potential cases of serious hypocalcemia and dermatologic events through ICD-9 diagnosis codes among women with PMO within claims from a large US healthcare insurer (June 2005-May 2010). A physician adjudicated potential hypocalcemic and dermatologic events identified from the primary position on emergency department (ED) or inpatient claims through medical record review. Positive predictive values (PPVs) and 95% confidence intervals (CIs) quantified the fraction of potential cases that were confirmed. Among 165,729 patients with PMO, medical charts were obtained for 40 of 55 (73%) potential hypocalcemia cases; 16 were confirmed (PPV 40%, 95% CI 25-57%). The PPV was higher for ED than inpatient claims (82 vs. 24%). Among 265 potential dermatologic events (primarily urticaria or rash), we obtained 184 (69%) charts and confirmed 128 (PPV 70%, 95% CI 62-76%). The PPV was higher for ED than inpatient claims (77 vs. 39%). Diagnostic codes for hypocalcemia and dermatologic events may be sufficient to identify events giving rise to emergency care, but are less accurate for identifying events within hospitalizations.
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HEPPELMANN, Maike; KRACH, Karoline; KRUEGER, Lars; BENZ, Philipp; HERZOG, Kathrin; PIECHOTTA, Marion; HOEDEMAKER, Martina; BOLLWEIN, Heinrich
2015-01-01
The objective of this study was to examine the effects of metritis and subclinical hypocalcemia on reduction of uterine size in dairy cows using ultrasonography and sonomicrometry. Four piezoelectric crystals were implanted via laparotomy into the myometrium of the pregnant uterine horn of 12 pluriparous Holstein Friesian cows 3 weeks before the calculated calving date. Sonometric measurements were conducted daily from 2 days before parturition (= Day 0) until Day 14 after calving and then every other day until Day 28. Distances between adjacent crystals were expressed in relation to reference values obtained before calving. The diameter of the formerly pregnant uterine horn was measured using transrectal B-Mode sonography starting on Day 10. Cows were retrospectively divided into the following groups: cows without metritis (M–; n = 7), cows with metritis (M+; n = 5), cows with normocalcemia (SH–; Ca > 2.0 mmol/l on Days 1 to 3; n = 5) and cows with subclinical hypocalcemia (SH+; Ca 0.05) sonometric measurements, but the diameter of the formerly pregnant horn was larger (P ≤ 0.05) between Days 15 and 21 in M+ cows than in M‒ cows. Reduction in uterine length in hypocalcemic cows was delayed (P ≤ 0.05) between Days 8 and 21 compared with normocalcemic cows, but the uterine horn diameter was not related to calcium status. In conclusion, both diseases affected reduction of uterine size until Day 28. Cows with metritis had a larger uterine diameter, possibly attributable to accumulation of lochia, and cows with subclinical hypocalcemia had delayed reduction of uterine length, presumably related to reduction of myometrial contractility. PMID:26400127
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DEFF Research Database (Denmark)
Martuseviciene, Giedre; Hofman-Bang, Jacob; Clausen, Torben
2011-01-01
increased in response to ethylene glycol tetraacetic acid-induced acute hypocalcemia and to the same extent in both vehicle and ouabain groups. The glands were removed, and inhibition of the ATPase was measured by (86)rubidium uptake, which was found to be significantly decreased in ouabain......-treated parathyroid glands, indicating inhibition of the ATPase. As ouabain induced systemic hyperkalemia, the effect of high potassium on hormone secretion was also examined but was found to have no effect. Thus, inhibition of the parathyroid gland sodium/potassium-ATPase activity in vivo had no effect...... on the secretory response to acute hypocalcemia. Hence, the suggested importance of this ATPase in the regulation of PTH secretion could not be confirmed in this in vivo model....
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Progranulin haploinsufficiency causes biphasic social dominance abnormalities in the tube test.
Arrant, A E; Filiano, A J; Warmus, B A; Hall, A M; Roberson, E D
2016-07-01
Loss-of-function mutations in progranulin (GRN) are a major autosomal dominant cause of frontotemporal dementia (FTD), a neurodegenerative disorder in which social behavior is disrupted. Progranulin-insufficient mice, both Grn(+/-) and Grn(-/-) , are used as models of FTD due to GRN mutations, with Grn(+/-) mice mimicking the progranulin haploinsufficiency of FTD patients with GRN mutations. Grn(+/-) mice have increased social dominance in the tube test at 6 months of age, although this phenotype has not been reported in Grn(-/-) mice. In this study, we investigated how the tube test phenotype of progranulin-insufficient mice changes with age, determined its robustness under several testing conditions, and explored the associated cellular mechanisms. We observed biphasic social dominance abnormalities in Grn(+/-) mice: at 6-8 months, Grn(+/-) mice were more dominant than wild-type littermates, while after 9 months of age, Grn(+/-) mice were less dominant. In contrast, Grn(-/-) mice did not exhibit abnormal social dominance, suggesting that progranulin haploinsufficiency has distinct effects from complete progranulin deficiency. The biphasic tube test phenotype of Grn(+/-) mice was associated with abnormal cellular signaling and neuronal morphology in the amygdala and prefrontal cortex. At 6-9 months, Grn(+/-) mice exhibited increased mTORC2/Akt signaling in the amygdala and enhanced dendritic arbors in the basomedial amygdala, and at 9-16 months Grn(+/-) mice exhibited diminished basal dendritic arbors in the prelimbic cortex. These data show a progressive change in tube test dominance in Grn(+/-) mice and highlight potential underlying mechanisms by which progranulin insufficiency may disrupt social behavior. © 2016 John Wiley & Sons Ltd and International Behavioural and Neural Genetics Society.
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2006-03-03
Chelating agents bind lead in soft tissues and are used in the treatment of lead poisoning to enhance urinary and biliary excretion of lead, thus decreasing total lead levels in the body. During the past 30 years, environmental and dietary exposures to lead have decreased substantially, resulting in a considerable decrease in population blood lead levels (BLLs) and a corresponding decrease in the number of patients requiring chelation therapy. Chelating agents also increase excretion of other heavy metals and minerals, such as zinc and, in certain cases, calcium. This report describes three deaths associated with chelation-therapy--related hypocalcemia that resulted in cardiac arrest. Several drugs are used in the treatment of lead poisoning, including edetate disodium calcium (CaEDTA), dimercaperol (British anti-Lewisite), D-penicillamine, and meso-2,3-dimercaptosuccinic acid (succimer). Health-care providers who are unfamiliar with chelating agents and are considering this treatment for lead poisoning should consult an expert in the chemotherapy of lead poisoning. Hospital pharmacies should evaluate whether continued stocking of Na2EDTA is necessary, given the established risk for hypocalcemia, the availability of less toxic alternatives, and an ongoing safety review by the Food and Drug Administration (FDA). Health-care providers and pharmacists should ensure that Na2EDTA is not administered to children during chelation therapy.
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Novel autosomal dominant TNNT1 mutation causing nemaline myopathy.
Konersman, Chamindra G; Freyermuth, Fernande; Winder, Thomas L; Lawlor, Michael W; Lagier-Tourenne, Clotilde; Patel, Shailendra B
2017-11-01
Nemaline myopathy (NEM) is one of the three major forms of congenital myopathy and is characterized by diffuse muscle weakness, hypotonia, respiratory insufficiency, and the presence of nemaline rod structures on muscle biopsy. Mutations in troponin T1 (TNNT1) is 1 of 10 genes known to cause NEM. To date, only homozygous nonsense mutations or compound heterozygous truncating or internal deletion mutations in TNNT1 gene have been identified in NEM. This extended family is of historical importance as some members were reported in the 1960s as initial evidence that NEM is a hereditary disorder. Proband and extended family underwent Sanger sequencing for TNNT1. We performed RT-PCR and immunoblot on muscle to assess TNNT1 RNA expression and protein levels in proband and father. We report a novel heterozygous missense mutation of TNNT1 c.311A>T (p.E104V) that segregated in an autosomal dominant fashion in a large family residing in the United States. Extensive sequencing of the other known genes for NEM failed to identify any other mutant alleles. Muscle biopsies revealed a characteristic pattern of nemaline rods and severe myofiber hypotrophy that was almost entirely restricted to the type 1 fiber population. This novel mutation alters a residue that is highly conserved among vertebrates. This report highlights not only a family with autosomal dominant inheritance of NEM, but that this novel mutation likely acts via a dominant negative mechanism. © 2017 The Authors. Molecular Genetics & Genomic Medicine published by Wiley Periodicals, Inc.
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HEPPELMANN, Maike; KRACH, Karoline; KRUEGER, Lars; BENZ, Philipp; HERZOG, Kathrin; PIECHOTTA, Marion; HOEDEMAKER, Martina; BOLLWEIN, Heinrich
2015-01-01
The objective of this study was to examine the effects of metritis and subclinical hypocalcemia on reduction of uterine size in dairy cows using ultrasonography and sonomicrometry. Four piezoelectric crystals were implanted via laparotomy into the myometrium of the pregnant uterine horn of 12 pluriparous Holstein Friesian cows 3 weeks before the calculated calving date. Sonometric measurements were conducted daily from 2 days before parturition (= Day 0) until Day 14 after calving and then ev...
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Amikacin-induced type 5 Bartter-like syndrome with severe hypocalcemia
Directory of Open Access Journals (Sweden)
Chrispal A
2009-01-01
Full Text Available Aminoglycoside-induced renal toxicity is well known and may manifest with nonoliguric renal failure or renal tubular dysfunction. Aminoglycoside-induced renal tubular dysfunction could result in diffuse damage or manifest as a Fanconi-like syndrome, Bartter-like syndrome, or distal renal tubular acidosis. We discuss a patient who developed severe renal tubular dysfunction secondary to short-term therapy with Amikacin, resulting in refractory hypokalemia, hypocalcemia, hypomagnesemia, metabolic alkalosis, and polyuria. This constellation of biochemical abnormalities mimic Type 5 Bartter′s syndrome, where there is activating mutation of the calcium sensing receptor in the thick ascending loop of Henle and the distal tubule. In this case this activation of the calcium sensing receptor was triggered by amikacin. This phenomenon has been described with gentamicin though never with amikacin. Recovery of the tubular dysfunction took 15 days following cessation of the offending drug, Amikacin.
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Dominant KCNA2 mutation causes episodic ataxia and pharmacoresponsive epilepsy.
Corbett, Mark A; Bellows, Susannah T; Li, Melody; Carroll, Renée; Micallef, Silvana; Carvill, Gemma L; Myers, Candace T; Howell, Katherine B; Maljevic, Snezana; Lerche, Holger; Gazina, Elena V; Mefford, Heather C; Bahlo, Melanie; Berkovic, Samuel F; Petrou, Steven; Scheffer, Ingrid E; Gecz, Jozef
2016-11-08
To identify the genetic basis of a family segregating episodic ataxia, infantile seizures, and heterogeneous epilepsies and to study the phenotypic spectrum of KCNA2 mutations. A family with 7 affected individuals over 3 generations underwent detailed phenotyping. Whole genome sequencing was performed on a mildly affected grandmother and her grandson with epileptic encephalopathy (EE). Segregating variants were filtered and prioritized based on functional annotations. The effects of the mutation on channel function were analyzed in vitro by voltage clamp assay and in silico by molecular modeling. KCNA2 was sequenced in 35 probands with heterogeneous phenotypes. The 7 family members had episodic ataxia (5), self-limited infantile seizures (5), evolving to genetic generalized epilepsy (4), focal seizures (2), and EE (1). They had a segregating novel mutation in the shaker type voltage-gated potassium channel KCNA2 (CCDS_827.1: c.765_773del; p.255_257del). A rare missense SCN2A (rs200884216) variant was also found in 2 affected siblings and their unaffected mother. The p.255_257del mutation caused dominant negative loss of channel function. Molecular modeling predicted repositioning of critical arginine residues in the voltage-sensing domain. KCNA2 sequencing revealed 1 de novo mutation (CCDS_827.1: c.890G>A; p.Arg297Gln) in a girl with EE, ataxia, and tremor. A KCNA2 mutation caused dominantly inherited episodic ataxia, mild infantile-onset seizures, and later generalized and focal epilepsies in the setting of normal intellect. This observation expands the KCNA2 phenotypic spectrum from EE often associated with chronic ataxia, reflecting the marked variation in severity observed in many ion channel disorders. © 2016 American Academy of Neurology.
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Directory of Open Access Journals (Sweden)
Huang Lijia
2012-09-01
Full Text Available Abstract Background Congenital nonprogressive spinocerebellar ataxia is characterized by early gross motor delay, hypotonia, gait ataxia, mild dysarthria and dysmetria. The clinical presentation remains fairly stable and may be associated with cerebellar atrophy. To date, only a few families with autosomal dominant congenital nonprogressive spinocerebellar ataxia have been reported. Linkage to 3pter was demonstrated in one large Australian family and this locus was designated spinocerebellar ataxia type 29. The objective of this study is to describe an unreported Canadian family with autosomal dominant congenital nonprogressive spinocerebellar ataxia and to identify the underlying genetic causes in this family and the original Australian family. Methods and Results Exome sequencing was performed for the Australian family, resulting in the identification of a heterozygous mutation in the ITPR1 gene. For the Canadian family, genotyping with microsatellite markers and Sanger sequencing of ITPR1 gene were performed; a heterozygous missense mutation in ITPR1 was identified. Conclusions ITPR1 encodes inositol 1,4,5-trisphosphate receptor, type 1, a ligand-gated ion channel that mediates calcium release from the endoplasmic reticulum. Deletions of ITPR1 are known to cause spinocerebellar ataxia type 15, a distinct and very slowly progressive form of cerebellar ataxia with onset in adulthood. Our study demonstrates for the first time that, in addition to spinocerebellar ataxia type 15, alteration of ITPR1 function can cause a distinct congenital nonprogressive ataxia; highlighting important clinical heterogeneity associated with the ITPR1 gene and a significant role of the ITPR1-related pathway in the development and maintenance of the normal functions of the cerebellum.
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Sherif S. Sultan
2016-01-01
Intravascular absorption of distending media may complicate operative hysteroscopy. Consequences differ according to type, amount and speed of absorption of the distending media. We report a case of intravascular absorption of more than one liter of 1.5% glycine. A 36 years old female developed metabolic acidosis, hyponatremia and hypocalcemia during operative hysteroscopy scheduled for resection of a uterine fibroid. Serum sodium reached down to 119 mmol/l and ionized calcium to 0.898 mmol/l...
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Mutations in DNMT1 cause autosomal dominant cerebellar ataxia, deafness and narcolepsy
DEFF Research Database (Denmark)
Winkelmann, Juliane; Lin, Ling; Schormair, Barbara
2012-01-01
to HDAC2. It is also highly expressed in immune cells and required for the differentiation of CD4+ into T regulatory cells. Mutations in exon 20 of this gene were recently reported to cause hereditary sensory neuropathy with dementia and hearing loss (HSAN1). Our mutations are all located in exon 21......Autosomal dominant cerebellar ataxia, deafness and narcolepsy (ADCA-DN) is characterized by late onset (30-40 years old) cerebellar ataxia, sensory neuronal deafness, narcolepsy-cataplexy and dementia. We performed exome sequencing in five individuals from three ADCA-DN kindreds and identified DNMT...
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Gamma-ray-induced dominant mutations that cause skeletal abnormalities in mice
International Nuclear Information System (INIS)
Selby, P.B.; Selby, P.R.
1977-01-01
Male mice were exposed to 100 R + 500 R γ-rays (60 R/min) with a 24-h fractionation interval. Skeletons of F 1 sons were examined for abnormalities, and, if any were found, the skeletons of their descendants were also examined. Of 2646 sons from treated spermatogonia, 37, or 1.4%, were diagnosed as carriers of autosomal dominant mutations affecting the skeleton, 31 by breeding tests, and six by other criteria for identifying mutations in F 1 's having no progeny. Many mutations caused a large number of anomalies in different regions of the skeleton. Most regions of the skeleton were affected by at least one mutation, and the mutations had incomplete penetrance for some or all of their effects. Three of the mutations affected skeletal size only. If certain assumptions are made, these skeletal data can be used to derive an estimate of induced genetic damage from dominant mutations affecting all parts of the body. When applied to man, the resultant risk estimate is not inconsistent with that made for dominant and irregularly inherited diseases by the BEIR Committee, by use of the doubling-dose method. Since most of the mutations can be characterized as models of irregularly inherited conditions in man, the data directly relate to the controversy over the relative importance of mutation pressure and balanced selection in maintaining man's large burden of irregularly inherited disease. Contrary to a recent hypothesis by H.B. Newcombe that man's large burden of irregularly inherited disease is maintained almost exclusively by balanced selection, these results suggest that at least an important fraction of the irregularly inherited conditions are maintained by mutation pressure. Therefore, this finding does not support the major changes in the estimate of genetic hazard to man that would be required on the basis of Newcombe's hypothesis
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Doze, J.G.; Donders, R.; Kolk, J.H. van der
2008-01-01
OBJECTIVE: To compare the effects of administration of 2 volumes of a calcium solution (calcium oxide and calcium gluconate) on plasma ionized calcium concentration (PICaC) and clinical recovery from naturally occurring hypocalcemia (NOHC; milk fever) in lactating dairy cows. ANIMALS: 123 cows with
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Recurring dominant-negative mutations in the AVP-NPII gene cause neurohypophyseal diabetes insipidus
Energy Technology Data Exchange (ETDEWEB)
Repaske, D.R. [Children`s Hospital Medical Center, Cincinnati, OH (United States); Phillips, J.A.; Krishnamani, M.R.S. [Vanderbilt Univ. School of Medicine, Nashville, TN (United States)] [and others
1994-09-01
Autosomal dominant neurohypophyseal diabetes insipidus (ADNDI) is a familial form of arginine vasopressin (or antidiuretic hormone) deficiency that is usually manifest in early childhood with polyuria, polydipsia and an antidiuretic response to exogenous vasopressin or its analogs. The phenotype is postulated to arise from gliosis and depletion of the magnocellular neurons that produce vasopressin in the supraoptic and paraventricular nuclei of the hypothalamus. ADNDI is caused by heterozygosity for a variety of mutations in the AVP-NPII gene which encodes vasopressin, its carrier protein (NPII) and a glycoprotein (copeptin) of unknown function. These mutations include: (1) Ala 19{r_arrow}Thr (G279A) in AVP`s signal peptide, (2) Gly 17{r_arrow}Val (G1740T), (3) Pro 24{r_arrow}Leu (C1761T), (4) Gly 57{r_arrow}Ser (G1859A) and (5) del Glu 47({delta}AGG 1824-26), all of which occur in NPII. In characterizing the AVP-NPII mutations in five non-related ADNDI kindreds, we have detected two kindreds having mutation 1 (G279A), two having mutation 3 (C1761T) and one having mutation 4 (G1859A) without any other allelic changes being detected. Two of these recurring mutations (G279A and G1859A) are transitions that occur at CpG dinucleotides while the third (C1761T) does not. Interestingly, families with the same mutations differed in their ethnicity or in their affected AVP-NPII allele`s associated haplotype of closely linked DNA polymorphisms. Our data indicated that at least three of five known AVP-NPII mutations causing ADNDI tend to recur but the mechanisms by which these dominant-negative mutations cause variable or progressive expression of the ADNDI phenotype remain unclear.
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Fröhlich, Leopold F; Mrakovcic, Maria; Steinborn, Ralf; Chung, Ung-Il; Bastepe, Murat; Jüppner, Harald
2010-05-18
Approximately 100 genes undergo genomic imprinting. Mutations in fewer than 10 imprinted genetic loci, including GNAS, are associated with complex human diseases that differ phenotypically based on the parent transmitting the mutation. Besides the ubiquitously expressed Gsalpha, which is of broad biological importance, GNAS gives rise to an antisense transcript and to several Gsalpha variants that are transcribed from the nonmethylated parental allele. We previously identified two almost identical GNAS microdeletions extending from exon NESP55 to antisense (AS) exon 3 (delNESP55/delAS3-4). When inherited maternally, both deletions are associated with erasure of all maternal GNAS methylation imprints and autosomal-dominant pseudohypoparathyroidism type Ib, a disorder characterized by parathyroid hormone-resistant hypocalcemia and hyperphosphatemia. As for other imprinting disorders, the mechanisms resulting in abnormal GNAS methylation are largely unknown, in part because of a paucity of suitable animal models. We now showed in mice that deletion of the region equivalent to delNESP55/delAS3-4 on the paternal allele (DeltaNesp55(p)) leads to healthy animals without Gnas methylation changes. In contrast, mice carrying the deletion on the maternal allele (DeltaNesp55(m)) showed loss of all maternal Gnas methylation imprints, leading in kidney to increased 1A transcription and decreased Gsalpha mRNA levels, and to associated hypocalcemia, hyperphosphatemia, and secondary hyperparathyroidism. Besides representing a murine autosomal-dominant pseudohypoparathyroidism type Ib model and one of only few animal models for imprinted human disorders, our findings suggest that the Nesp55 differentially methylated region is an additional principal imprinting control region, which directs Gnas methylation and thereby affects expression of all maternal Gnas-derived transcripts.
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Directory of Open Access Journals (Sweden)
Chun-Chieh Lin
2016-11-01
Full Text Available The CRISPR/Cas9 system has revolutionized genomic editing. The Cas9 endonuclease targets DNA via an experimentally determined guide RNA (gRNA. This results in a double-strand break at the target site . We generated transgenic Drosophila melanogaster in which the CRISPR/Cas9 system was used to target a GAL4 transgene in vivo. To our surprise, progeny whose genomes did not contain CRISPR/Cas9 components were still capable of mutating GAL4 sequences. We demonstrate this effect was caused by maternal deposition of Cas9 and gRNAs into the embryo, leading to extensive GAL4 mutations in both somatic and germline tissues. This serves as a cautionary observation on the effects of maternal contributions when conducting experiments using genomically encoded CRISPR/Cas9 components. These results also highlight a mode of artificial inheritance in which maternal contributions of DNA editing components lead to transmissible mutant defects even in animals whose genomes lack the editing components. We suggest calling this a dominant maternal effect to reflect it is caused by the gain of maternally contributed products. Models of CRISPR-mediated gene drive will need to incorporate dominant maternal effects in order to accurately predict the efficiency and dynamics of gene drive in a population.
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Directory of Open Access Journals (Sweden)
Diana Grove-Laugesen
2014-01-01
Full Text Available Hypophosphatemic rickets (HR is a rare inherited disorder characterized by a classic rickets phenotype with low plasma phosphate levels and resistance to treatment with vitamin D. Development of secondary hyperparathyroidism (SHPT as a direct consequence of treatment is a frequent complication and a major clinical challenge, as this may increase risk of further comorbidity. Cinacalcet, a calcimimetic agent that reduces the secretion of PTH from the parathyroid glands, has been suggested as adjuvant treatment to SHPT in patients with HR. However, only two papers have previously been published and no data are available on effects of treatment for more than six months. We now report a case of 3-year treatment with cinacalcet in a patient with HR complicated by SHPT. A 53-year-old woman with genetically confirmed X-linked dominant hypophosphatemic rickets developed SHPT after 25 years of conventional treatment with alfacalcidol and phosphate supplements. Cinacalcet was added to her treatment, causing a sustained normalization of PTH. Ionized calcium decreased, requiring reduction of cinacalcet, though asymptomatical. Level of phosphate was unchanged, but alkaline phosphatase increased in response to treatment. Cinacalcet appeared to be efficient, safe, and well tolerated. We recommend close control of plasma calcium to avoid hypocalcemia.
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Patel, Neha A; Bly, Randall A; Adams, Seth; Carlin, Kristen; Parikh, Sanjay R; Dahl, John P; Manning, Scott
2018-02-01
Postoperative calcium management is challenging following pediatric thyroidectomy given potential limitations in self-reporting symptoms and compliance with phlebotomy. A protocol was created at our tertiary children's institution utilizing intraoperative parathyroid hormone (PTH) levels to guide electrolyte management during hospitalization. The objective of this study was to determine the effect of a new thyroidectomy postoperative management protocol on two primary outcomes: (1) the number of postoperative calcium blood draws and (2) the length of hospital stay. Institutional review board approved retrospective study (2010-2016). Consecutive pediatric total thyroidectomy and completion thyroidectomy ± neck dissection cases from 1/1/2010 through 8/5/2016 at a single tertiary children's institution were retrospectively reviewed before and after initiation of a new management protocol. All cases after 2/1/2014 comprised the experimental group (post-protocol implementation). The pre-protocol control group consisted of cases prior to 2/1/2014. Multivariable linear and Poisson regression models were used to compare the control and experimental groups for outcome measure of number of calcium lab draws and hospital length of stay. 53 patients were included (n = 23, control group; n = 30 experimental group). The median age was 15 years. 41 patients (77.4%) were female. Postoperative calcium draws decreased from a mean of 5.2 to 3.6 per day post-protocol implementation (Rate Ratio = 0.70, p Hypocalcemia was also associated with a longer mean length of stay of 2.41 days compared to 1.60 days in patients who did not develop hypocalcemia (p < .01). The number of calcium blood draws was significantly reduced after introduction of a standardized protocol based on intraoperative PTH levels. The hospital length of stay did not change. Adoption of a standardized postoperative protocol based on intraoperative PTH levels may reduce the number of blood draws
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Arcot Sadagopan, Karthikeyan; Battista, Robert; Keep, Rosanne B; Capasso, Jenina E; Levin, Alex V
2015-06-01
Leber congenital amaurosis (LCA) is most often an autosomal recessive disorder. We report a father and son with autosomal dominant LCA due to a mutation in the CRX gene. DNA screening using an allele specific assay of 90 of the most common LCA-causing variations in the coding sequences of AIPL1, CEP290, CRB1, CRX, GUCY2D, RDH12 and RPE65 was performed on the father. Automated DNA sequencing of his son examining exon 3 of the CRX gene was subsequently performed. Both father and son have a heterozygous single base pair deletion of an adenine at codon 153 in the coding sequence of the CRX gene resulting in a frameshift mutation. Mutations involving the CRX gene may demonstrate an autosomal dominant inheritance pattern for LCA.
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Tsoi, Ho; Yu, Allen C S; Chen, Zhefan S; Ng, Nelson K N; Chan, Anne Y Y; Yuen, Liz Y P; Abrigo, Jill M; Tsang, Suk Ying; Tsui, Stephen K W; Tong, Tony M F; Lo, Ivan F M; Lam, Stephen T S; Mok, Vincent C T; Wong, Lawrence K S; Ngo, Jacky C K; Lau, Kwok-Fai; Chan, Ting-Fung; Chan, H Y Edwin
2014-09-01
Spinocerebellar ataxias (SCAs) are a group of clinically and genetically diverse and autosomal-dominant disorders characterised by neurological deficits in the cerebellum. At present, there is no cure for SCAs. Of the different distinct subtypes of autosomal-dominant SCAs identified to date, causative genes for only a fraction of them are currently known. In this study, we investigated the cause of an autosomal-dominant SCA phenotype in a family that exhibits cerebellar ataxia and pontocerebellar atrophy along with a global reduction in brain volume. Whole-exome analysis revealed a missense mutation c.G1391A (p.R464H) in the coding region of the coiled-coil domain containing 88C (CCDC88C) gene in all affected individuals. Functional studies showed that the mutant form of CCDC88C activates the c-Jun N-terminal kinase (JNK) pathway, induces caspase 3 cleavage and triggers apoptosis. This study expands our understanding of the cause of autosomal-dominant SCAs, a group of heterogeneous congenital neurological conditions in humans, and unveils a link between the JNK stress pathway and cerebellar atrophy. Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://group.bmj.com/group/rights-licensing/permissions.
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Directory of Open Access Journals (Sweden)
Bruce N Bagley
Full Text Available Here we report the isolation of a murine model for heritable T cell lymphoblastic leukemia/lymphoma (T-ALL called Spontaneous dominant leukemia (Sdl. Sdl heterozygous mice develop disease with a short latency and high penetrance, while mice homozygous for the mutation die early during embryonic development. Sdl mice exhibit an increase in the frequency of micronucleated reticulocytes, and T-ALLs from Sdl mice harbor small amplifications and deletions, including activating deletions at the Notch1 locus. Using exome sequencing it was determined that Sdl mice harbor a spontaneously acquired mutation in Mcm4 (Mcm4(D573H. MCM4 is part of the heterohexameric complex of MCM2-7 that is important for licensing of DNA origins prior to S phase and also serves as the core of the replicative helicase that unwinds DNA at replication forks. Previous studies in murine models have discovered that genetic reductions of MCM complex levels promote tumor formation by causing genomic instability. However, Sdl mice possess normal levels of Mcms, and there is no evidence for loss-of-heterozygosity at the Mcm4 locus in Sdl leukemias. Studies in Saccharomyces cerevisiae indicate that the Sdl mutation produces a biologically inactive helicase. Together, these data support a model in which chromosomal abnormalities in Sdl mice result from the ability of MCM4(D573H to incorporate into MCM complexes and render them inactive. Our studies indicate that dominantly acting alleles of MCMs can be compatible with viability but have dramatic oncogenic consequences by causing chromosomal abnormalities.
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Bagley, Bruce N; Keane, Thomas M; Maklakova, Vilena I; Marshall, Jonathon G; Lester, Rachael A; Cancel, Michelle M; Paulsen, Alex R; Bendzick, Laura E; Been, Raha A; Kogan, Scott C; Cormier, Robert T; Kendziorski, Christina; Adams, David J; Collier, Lara S
2012-01-01
Here we report the isolation of a murine model for heritable T cell lymphoblastic leukemia/lymphoma (T-ALL) called Spontaneous dominant leukemia (Sdl). Sdl heterozygous mice develop disease with a short latency and high penetrance, while mice homozygous for the mutation die early during embryonic development. Sdl mice exhibit an increase in the frequency of micronucleated reticulocytes, and T-ALLs from Sdl mice harbor small amplifications and deletions, including activating deletions at the Notch1 locus. Using exome sequencing it was determined that Sdl mice harbor a spontaneously acquired mutation in Mcm4 (Mcm4(D573H)). MCM4 is part of the heterohexameric complex of MCM2-7 that is important for licensing of DNA origins prior to S phase and also serves as the core of the replicative helicase that unwinds DNA at replication forks. Previous studies in murine models have discovered that genetic reductions of MCM complex levels promote tumor formation by causing genomic instability. However, Sdl mice possess normal levels of Mcms, and there is no evidence for loss-of-heterozygosity at the Mcm4 locus in Sdl leukemias. Studies in Saccharomyces cerevisiae indicate that the Sdl mutation produces a biologically inactive helicase. Together, these data support a model in which chromosomal abnormalities in Sdl mice result from the ability of MCM4(D573H) to incorporate into MCM complexes and render them inactive. Our studies indicate that dominantly acting alleles of MCMs can be compatible with viability but have dramatic oncogenic consequences by causing chromosomal abnormalities.
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Hypoparathyroidism Causing Seizures: When Epilepsy Does Not Fit
Directory of Open Access Journals (Sweden)
Faheem Seedat
2018-01-01
Full Text Available A 24-year-old man presented to the Chris Hani Baragwanath Academic Hospital emergency department with recurrent seizures having previously been diagnosed with epilepsy from age 14. The biochemical investigations and brain imaging were suggestive of seizures secondary to hypocalcemia, and a diagnosis of idiopathic hypoparathyroidism was confirmed. After calcium and vitamin D replacement, the patient recovered well and is seizure free, and off antiepileptic therapy. This case highlights the occurrence of brain calcinosis in idiopathic hypoparathyroidism; the occurrence of acute symptomatic seizures due to provoking factors other than epilepsy; and the importance, in the correct clinical setting, of considering alternative, and sometimes treatable, causes of seizures other than epilepsy.
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Directory of Open Access Journals (Sweden)
Sherif S. Sultan
2016-07-01
Full Text Available Intravascular absorption of distending media may complicate operative hysteroscopy. Consequences differ according to type, amount and speed of absorption of the distending media. We report a case of intravascular absorption of more than one liter of 1.5% glycine. A 36 years old female developed metabolic acidosis, hyponatremia and hypocalcemia during operative hysteroscopy scheduled for resection of a uterine fibroid. Serum sodium reached down to 119 mmol/l and ionized calcium to 0.898 mmol/l. Serial estimations of arterial blood gases and serum electrolytes were followed. Management was successful in preventing serious side effects. Meticulous monitoring of distending media input/output balance remains the cornerstone in prevention of intravascular absorption.
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Lech, Przemysław
2016-01-01
The purpose of this research was to investigate the causes of the dominant risk factors, affecting Enterprise System implementation projects and propose remedies for those risk factors from the perspective of implementation consultants. The study used a qualitative research strategy, based on e-mail interviews, semi-structured personal interviews with consultants and participant observation during implementation projects. The main contribution of this paper is that it offers viable indications of how to mitigate the dominant risk factors. These indications were grouped into the following categories: stable project scope, smooth communication supported by the project management, dedicated, competent and decision-making client team, competent and engaged consultant project manager, schedule and budget consistent with the project scope, use of methodology and procedures, enforced and enabled by the project managers, competent and dedicated consultants. A detailed description is provided for each category.
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Isojima, Tsuyoshi; Ishizawa, Michiyasu; Yoshimura, Kazuko; Tamura, Mayuko; Hirose, Shinichi; Makishima, Makoto; Kitanaka, Sachiko
2015-06-01
Hereditary 1,25-dihydroxyvitamin D-resistant rickets (HVDRR) is caused by mutations in the VDR gene, and its inheritance is autosomal recessive. In this report, we aimed to confirm whether HVDRR is occasionally inherited as a dominant trait. An 18-month-old Japanese boy was evaluated for short stature and bowlegs. His father had been treated for rickets during childhood, and his paternal grandfather had bowlegs. We diagnosed him with HVDRR based on laboratory data and radiographic evidence of rickets. Sequence analyses of VDR were performed, and the functional consequences of the detected mutations were analyzed for transcriptional activity, ligand binding, and interaction with the retinoid X receptor, cofactors, and the vitamin D response element (VDRE). A novel mutation (Q400LfsX7) and a reported variant (R370H) were identified in the patient. Heterozygous Q400LfsX7 was detected in his father, and heterozygous R370H was detected in his healthy mother. Functional studies revealed that the transcriptional activity of Q400LfsX7-VDR was markedly disturbed. The mutant had a dominant-negative effect on wild-type-VDR, and the ligand binding affinity of Q400LfsX7-VDR was completely impaired. Interestingly, Q400LfsX7-VDR had a strong interaction with corepressor NCoR and could interact with VDRE without the ligand. R370H-VDR was functionally similar to wild-type-VDR. In conclusion, we found a dominant-negative mutant of VDR causing dominantly inherited HVDRR through a constitutive corepressor interaction, a mechanism similar to that in dominantly inherited thyroid hormone receptor mutations. Our report together with a reported pedigree suggested a distinct inheritance of HVDRR and enriched our understanding of VDR abnormalities.
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Directory of Open Access Journals (Sweden)
Tsuyoshi Isojima
2015-06-01
Full Text Available Hereditary 1,25-dihydroxyvitamin D-resistant rickets (HVDRR is caused by mutations in the VDR gene, and its inheritance is autosomal recessive. In this report, we aimed to confirm whether HVDRR is occasionally inherited as a dominant trait. An 18-month-old Japanese boy was evaluated for short stature and bowlegs. His father had been treated for rickets during childhood, and his paternal grandfather had bowlegs. We diagnosed him with HVDRR based on laboratory data and radiographic evidence of rickets. Sequence analyses of VDR were performed, and the functional consequences of the detected mutations were analyzed for transcriptional activity, ligand binding, and interaction with the retinoid X receptor, cofactors, and the vitamin D response element (VDRE. A novel mutation (Q400LfsX7 and a reported variant (R370H were identified in the patient. Heterozygous Q400LfsX7 was detected in his father, and heterozygous R370H was detected in his healthy mother. Functional studies revealed that the transcriptional activity of Q400LfsX7-VDR was markedly disturbed. The mutant had a dominant-negative effect on wild-type-VDR, and the ligand binding affinity of Q400LfsX7-VDR was completely impaired. Interestingly, Q400LfsX7-VDR had a strong interaction with corepressor NCoR and could interact with VDRE without the ligand. R370H-VDR was functionally similar to wild-type-VDR. In conclusion, we found a dominant-negative mutant of VDR causing dominantly inherited HVDRR through a constitutive corepressor interaction, a mechanism similar to that in dominantly inherited thyroid hormone receptor mutations. Our report together with a reported pedigree suggested a distinct inheritance of HVDRR and enriched our understanding of VDR abnormalities.
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Directory of Open Access Journals (Sweden)
Pilar Eraso
Full Text Available The correct biogenesis and localization of Pma1 at the plasma membrane is essential for yeast growth. A subset of PMA1 mutations behave as dominant negative because they produce aberrantly folded proteins that form protein aggregates, which in turn provoke the aggregation of the wild type protein. One approach to understand this dominant negative effect is to identify second-site mutations able to suppress the dominant lethal phenotype caused by those mutant alleles. We isolated and characterized two intragenic second-site suppressors of the PMA1-D378T dominant negative mutation. We present here the analysis of these new mutations that are located along the amino-terminal half of the protein and include a missense mutation, L151F, and an in-frame 12bp deletion that eliminates four residues from Cys409 to Ala412. The results show that the suppressor mutations disrupt the interaction between the mutant and wild type enzymes, and this enables the wild type Pma1 to reach the plasma membrane.
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Li, Dong; Opas, Evan E; Tuluc, Florin; Metzger, Daniel L; Hou, Cuiping; Hakonarson, Hakon; Levine, Michael A
2014-09-01
Most cases of autosomal dominant hypoparathyroidism (ADH) are caused by gain-of-function mutations in CASR or dominant inhibitor mutations in GCM2 or PTH. Our objectives were to identify the genetic basis for ADH in a multigenerational family and define the underlying disease mechanism. Here we evaluated a multigenerational family with ADH in which affected subjects had normal sequences in these genes and were shorter than unaffected family members. We collected clinical and biochemical data from 6 of 11 affected subjects and performed whole-exome sequence analysis on DNA from two affected sisters and their affected father. Functional studies were performed after expression of wild-type and mutant Gα11 proteins in human embryonic kidney-293-CaR cells that stably express calcium-sensing receptors. Whole-exome-sequencing followed by Sanger sequencing revealed a heterozygous mutation, c.179G>T; p.R60L, in GNA11, which encodes the α-subunit of G11, the principal heterotrimeric G protein that couples calcium-sensing receptors to signal activation in parathyroid cells. Functional studies of Gα11 R60L showed increased accumulation of intracellular concentration of free calcium in response to extracellular concentration of free calcium with a significantly decreased EC50 compared with wild-type Gα11. By contrast, R60L was significantly less effective than the oncogenic Q209L form of Gα11 as an activator of the MAPK pathway. Compared to subjects with CASR mutations, patients with GNA11 mutations lacked hypercalciuria and had normal serum magnesium levels. Our findings indicate that the germline gain-of-function mutation of GNA11 is a cause of ADH and implicate a novel role for GNA11 in skeletal growth.
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Dominant missense mutations in ABCC9 cause Cantu syndrome
Harakalova, M.; van Harssel, J.J.; Terhal, P.A.; van Lieshout, S.; Duran, K.; Renkens, I.; Amor, D.J.; Wilson, L.C.; Kirk, E.P.; Turner, C.L.; Shears, D.; Garcia-Minaur, S.; Lees, M.M.; Ross, A.; Venselaar, H.; Vriend, G.; Takanari, H.; Rook, M.B.; van der Heyden, M.A.; Asselbergs, F.W.; Breur, H.M.; Swinkels, M.E.; Scurr, I.J.; Smithson, S.F.; Knoers, N.V.; van der Smagt, J.J.; Nijman, I.J.; Kloosterman, W.P.; van Haelst, M.M.; van Haaften, G.; Cuppen, E.
2012-01-01
Cantu syndrome is characterized by congenital hypertrichosis, distinctive facial features, osteochondrodysplasia and cardiac defects. By using family-based exome sequencing, we identified a de novo mutation in ABCC9. Subsequently, we discovered novel dominant missense mutations in ABCC9 in 14 of the
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Dominant missense mutations in ABCC9 cause Cantu syndrome.
Harakalova, M.; Harssel, J.J. van; Terhal, P.A.; Lieshout, S. van; Duran, K.; Renkens, I.; Amor, D.J.; Wilson, L.C.; Kirk, E.P.; Turner, C.L.; Shears, D.; Garcia-Minaur, S.; Lees, M.M.; Ross, A.; Venselaar, H.; Vriend, G.; Takanari, H.; Rook, M.B.; Heyden, M.A. van der; Asselbergs, F.W.; Breur, H.M.; Swinkels, M.E.; Scurr, I.J.; Smithson, S.F.; Knoers, N.V.A.M.; Smagt, J.J. van der; Nijman, IJ; Kloosterman, W.P.; Haelst, M.M. van; Haaften, G. van; Cuppen, E.
2012-01-01
Cantu syndrome is characterized by congenital hypertrichosis, distinctive facial features, osteochondrodysplasia and cardiac defects. By using family-based exome sequencing, we identified a de novo mutation in ABCC9. Subsequently, we discovered novel dominant missense mutations in ABCC9 in 14 of the
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DEFF Research Database (Denmark)
Toustrup, Lise Bols; Zhou, Yan; Kvistgaard, Helene
2017-01-01
Autosomal dominant familial neurohypophyseal diabetes insipidus (adFNDI) is caused by variants in the arginine vasopressin (AVP) gene. Here we report the generation of induced pluripotent stem cells (iPSCs) from a 42-year-old man carrying an adFNDI causing variant in exon 1 of the AVP gene using...
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A novel GJA8 mutation (p.V44A causing autosomal dominant congenital cataract.
Directory of Open Access Journals (Sweden)
Yanan Zhu
Full Text Available To examine the mechanism by which a novel connexin 50 (Cx50 mutation, Cx50 V44A, in a Chinese family causes suture-sparing autosomal dominant congenital nuclear cataracts.Family history and clinical data were recorded and direct gene sequencing was used to identify the disease-causing mutation. The Cx50 gene was cloned from a human lens cDNA library. Connexin protein distributions were assessed by fluorescence microscopy. Hemichannel functions were analyzed by dye uptake assay. Formation of functional channels was assessed by dye transfer experiments.Direct sequencing of the candidate GJA8 gene revealed a novel c.131T>C transition in exon 2, which cosegregated with the disease in the family and resulted in the substitution of a valine residue with alanine at codon 44 (p. V44A in the extracellular loop 1 of the Cx50 protein. Both Cx50 and Cx50V44A formed functional gap junctions, as shown by the neurobiotin transfer assay. However, unlike wild-type Cx50, Cx50V44A was unable to form open hemichannels in dye uptake experiments.This work identified a unique congenital cataract in the Chinese population, caused by the novel mutation Cx50V44A, and it showed that the V44A mutation specifically impairs the gating of the hemichannels but not the gap junction channels. The dysfunctional hemichannels resulted in the development of human congenital cataracts.
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Ishiura, Hiroyuki; Tsuji, Shoji
2013-01-01
Hereditary motor and sensory neuropathy with proximal dominant involvement (HMSN-P) is an autosomal dominant neurodegenerative disease characterized by proximal predominant weakness and muscle atrophy accompanied by distal sensory disturbance. Linkage analysis using 4 families identified a region on chromosome 3 showing a LOD score exceeding 4. Further refinement of candidate region was performed by haplotype analysis using high-density SNP data, resulting in a minimum candidate region spanning 3.3 Mb. Exome analysis of an HMSN-P patient revealed a mutation (c.854C>T, p.Pro285Leu) in TRK-fused gene (TFG). The identical mutation was found in the four families, which cosegregated with the disease. The mutation was neither found in Japanese control subjects nor public databases. Detailed haplotype analysis suggested two independent origins of the mutation. These findings indicate that the mutation in TFG causes HMSN-P.
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Directory of Open Access Journals (Sweden)
Yi Dai
2017-07-01
Full Text Available Autosomal dominant adult-onset demyelinating leukodystrophy (ADLD is a very rare neurological disorder featured with late onset, slowly progressive central nervous system demyelination. Duplication or over expression of the lamin B1 (LMNB1 gene causes ADLD. In this study, we undertook a comprehensive clinical evaluation and genetic detection for a Chinese family with ADLD. The proband is a 52-year old man manifested with autonomic abnormalities, pyramidal tract dysfunction. MRI brain scan identified bilateral symmetric white matter (WM hyper-intensities in periventricular and semi-oval WM, cerebral peduncles and middle cerebellar peduncles. The proband has a positive autosomal dominant family history with similar clinical manifestations with a trend of genetic anticipation. In order to understand the genetic cause of the disease in this family, target exome capture based next generation sequencing has been done, but no causative variants or possibly pathogenic variants has been identified. However, Multiplex ligand-dependent probe amplification (MLPA showed whole duplication of LMNB1 gene which is co-segregated with the disease phenotype in this family. This is the first genetically confirmed LMNB1 associated ADLD pedigree from China.
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Poulter, James A; El-Sayed, Walid; Shore, Roger C; Kirkham, Jennifer; Inglehearn, Chris F; Mighell, Alan J
2014-01-01
The conventional approach to identifying the defective gene in a family with an inherited disease is to find the disease locus through family studies. However, the rapid development and decreasing cost of next generation sequencing facilitates a more direct approach. Here, we report the identification of a frameshift mutation in LAMB3 as a cause of dominant hypoplastic amelogenesis imperfecta (AI). Whole-exome sequencing of three affected family members and subsequent filtering of shared variants, without prior genetic linkage, sufficed to identify the pathogenic variant. Simultaneous analysis of multiple family members confirms segregation, enhancing the power to filter the genetic variation found and leading to rapid identification of the pathogenic variant. LAMB3 encodes a subunit of Laminin-5, one of a family of basement membrane proteins with essential functions in cell growth, movement and adhesion. Homozygous LAMB3 mutations cause junctional epidermolysis bullosa (JEB) and enamel defects are seen in JEB cases. However, to our knowledge, this is the first report of dominant AI due to a LAMB3 mutation in the absence of JEB.
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TSH elevations as the first laboratory evidence for pseudohypoparathyroidism type Ib (PHP-Ib)†
Molinaro, Angelo; Tiosano, Dov; Takatani, Rieko; Chrysis, Dionisios; Russell, William; Koscielniak, Nikolas; Kottler, Marie-Laure; Agretti, Patrizia; De Marco, Giuseppina; Ahtiainen, Petteri; Christov, Marta; Mäkitie, Outi; Tonacchera, Massimo; Jüppner, Harald
2014-01-01
Hypocalcemia and hyperphosphatemia because of resistance towards parathyroid hormone (PTH) in the proximal renal tubules are the most prominent abnormalities in patients affected by pseudohypoparathyroidism type Ib (PHP-Ib). In this rare disorder that is caused by GNAS methylation changes, resistance can occur towards other hormones, such as thyroid-stimulating hormone (TSH), that mediate their actions through G protein-coupled receptors. However, these additional laboratory abnormalities are usually not recognized until PTH-resistant hypocalcemia becomes clinically apparent. We now describe four pediatric patients, first diagnosed with subclinical or overt hypothyroidism between the ages of 0.2 and 15 years, who developed overt PTH-resistance 3-20 years later. Although anti-TPO antibodies provided a plausible explanation for hypothyroidism in one of these patients, this and two other patients revealed broad epigenetic GNAS abnormalities, which included loss of methylation (LOM) at exons AS, XL and A/B, and gain of methylation at exon NESP55, i.e. findings consistent with PHP-Ib. LOM at GNAS exon A/B alone led in the fourth patient to the identification of a maternally inherited 3-kb STX16 deletion, a well-established cause of autosomal dominant PHP-Ib. Although GNAS methylation changes were not detected in additional pediatric and adult patients with subclinical hypothyroidism (23 pediatric and 39 adult cases), hypothyroidism can obviously be the initial finding in PHP-Ib patients. One should therefore consider measuring PTH, along with calcium and phosphate, in patients with unexplained hypothyroidism for extended periods of time to avoid hypocalcemia and associated clinical complications. PMID:25403028
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Intracranial Hemorrhage Revealing Pseudohypoparathyroidism as a Cause of Fahr Syndrome
Directory of Open Access Journals (Sweden)
Abhijit Swami
2011-01-01
Full Text Available Pseudohypoparathyroidism is an infrequently encountered disease. It is one of the causes of Fahr syndrome which also is a rare clinical entity caused by multiple diseases. A 4-year-old man hospitalized for sudden onset left hemiparesis and hypertension was diagnosed to have right thalamic and midbrain hemorrhage on plain CT scan of the head which also revealed co-existent extensive intracranial calcifications involving the basal ganglia and cerebellum bilaterally. General physical examination revealed features of Albright hereditary osteodystrophy, goitre, hypertension, left hemiparesis, and signs of cerebellar dysfunction. Laboratory findings suggested hypocalcemia, hyperphosphatemia along with high TSH, low FT4, low FT3, and high anti-TPO antibody. Though bilateral intracranial calcifications are usually encountered as an incidental radiological finding in the CT scan of brain, in this case, the patient admitted for thalamic and midbrain hemorrhage was on investigation for associated intracranial calcification, and goitre was also found to have coexisting pseudohypoparathyroidism and autoimmune hypothyroidism.
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Autosomal dominant polycystic kidney disease caused by somatic and germline mosaicism.
Tan, A Y; Blumenfeld, J; Michaeel, A; Donahue, S; Bobb, W; Parker, T; Levine, D; Rennert, H
2015-04-01
Autosomal dominant polycystic kidney disease (ADPKD) is a heterogeneous genetic disorder caused by loss of function mutations of PKD1 or PKD2 genes. Although PKD1 is highly polymorphic and the new mutation rate is relatively high, the role of mosaicism is incompletely defined. Herein, we describe the molecular analysis of ADPKD in a 19-year-old female proband and her father. The proband had a PKD1 truncation mutation c.10745dupC (p.Val3584ArgfsX43), which was absent in paternal peripheral blood lymphocytes (PBL). However, very low quantities of this mutation were detected in the father's sperm DNA, but not in DNA from his buccal cells or urine sediment. Next generation sequencing (NGS) analysis determined the level of this mutation in the father's PBL, buccal cells and sperm to be ∼3%, 4.5% and 10%, respectively, consistent with somatic and germline mosaicism. The PKD1 mutation in ∼10% of her father's sperm indicates that it probably occurred early in embryogenesis. In ADPKD cases where a de novo mutation is suspected because of negative PKD gene testing of PBL, additional evaluation with more sensitive methods (e.g. NGS) of the proband PBL and paternal sperm can enhance detection of mosaicism and facilitate genetic counseling. © 2014 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.
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Abe, Koichiro; Takamatsu, Nobuhiko; Ishikawa, Kumiko; Tsurumi, Toshiko; Tanimoto, Sho; Sakurai, Yukina; Lisse, Thomas S; Lisse, Thomas; Imai, Kenji; Serikawa, Tadao; Mashimo, Tomoji
2015-01-01
Congenital vertebral malformations caused by embryonic segmentation defects are relatively common in humans and domestic animals. Although reverse genetics approaches in mice have provided information on the molecular mechanisms of embryonic somite segmentation, hypothesis-driven approaches cannot adequately reflect human dysmorphology within the population. In a N-ethyl-N-nitrosourea (ENU) mutagenesis project in Kyoto, the Oune mutant rat strain was isolated due to a short and kinked caudal vertebra phenotype. Skeletal staining of heterozygous rats showed partial loss of the cervical vertebrae as well as hemivertebrae and fused vertebral blocks in lumbar and sacral vertebrae. In homozygous embryos, severe displacement of the whole vertebrae was observed. The Oune locus was genetically mapped to rat chromosome 1 using 202 backcross animals and 50 genome-wide microsatellite markers. Subsequently, a miss-sense mutation in the Tbx6 gene was identified in the critical region. Although the mutation is located within the T-box domain near a predicted dimmer-interface, in vitro experiments revealed that the Tbx6 variant retains normal DNA binding ability and translational efficiency. However, the variant has decreased transcriptional activation potential in response to Notch-mediated signaling. Recently, it was reported that a dominant type of familial spondylocostal dysostosis is caused by a stoploss mutation in TBX6. Thus, we propose that partial dysfunction of Tbx6 leads to similar congenital vertebral malformations in both humans and rats. The Oune strain could be a unique animal model for dominant spondylocostal dysostosis and is useful for molecular dissection of the pathology of congenital vertebral malformations in humans.
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Directory of Open Access Journals (Sweden)
Koichiro Abe
Full Text Available Congenital vertebral malformations caused by embryonic segmentation defects are relatively common in humans and domestic animals. Although reverse genetics approaches in mice have provided information on the molecular mechanisms of embryonic somite segmentation, hypothesis-driven approaches cannot adequately reflect human dysmorphology within the population. In a N-ethyl-N-nitrosourea (ENU mutagenesis project in Kyoto, the Oune mutant rat strain was isolated due to a short and kinked caudal vertebra phenotype. Skeletal staining of heterozygous rats showed partial loss of the cervical vertebrae as well as hemivertebrae and fused vertebral blocks in lumbar and sacral vertebrae. In homozygous embryos, severe displacement of the whole vertebrae was observed. The Oune locus was genetically mapped to rat chromosome 1 using 202 backcross animals and 50 genome-wide microsatellite markers. Subsequently, a miss-sense mutation in the Tbx6 gene was identified in the critical region. Although the mutation is located within the T-box domain near a predicted dimmer-interface, in vitro experiments revealed that the Tbx6 variant retains normal DNA binding ability and translational efficiency. However, the variant has decreased transcriptional activation potential in response to Notch-mediated signaling. Recently, it was reported that a dominant type of familial spondylocostal dysostosis is caused by a stoploss mutation in TBX6. Thus, we propose that partial dysfunction of Tbx6 leads to similar congenital vertebral malformations in both humans and rats. The Oune strain could be a unique animal model for dominant spondylocostal dysostosis and is useful for molecular dissection of the pathology of congenital vertebral malformations in humans.
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DEFF Research Database (Denmark)
Thilsing-Hansen, T; Jørgensen, R J; Thilsing, Trine
2001-01-01
To test the effects of a zeolite feed supplement on parturient calcium status and milk fever, two groups of dry cows were treated with either 1 kg of zeolite/d or none for 4 wk prepartum. At calving and d 1 and 2 after calving all cows were given 250 g of calcium carbonate as a drench, and a blood...... sample was taken. Serum calcium analysis revealed a greater calcium concentration in zeolite-treated cows. While three control cows contracted milk fever, necessitating intravenous calcium therapy, and six out of eight control cows experienced serum calcium levels below 2 mmol/L in one or more samples...... taken, none of the zeolite-treated cows contracted milk fever or experienced subclinical hypocalcemia....
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Martinez, N; Sinedino, L D P; Bisinotto, R S; Ribeiro, E S; Gomes, G C; Lima, F S; Greco, L F; Risco, C A; Galvão, K N; Taylor-Rodriguez, D; Driver, J P; Thatcher, W W; Santos, J E P
2014-02-01
The objectives were to study the effects of induced subclinical hypocalcemia [SCH, blood ionized Ca (iCa(2+)) dairy cows. Ten nonpregnant, nonlactating Holstein cows were blocked by lactation and assigned randomly to a normocalcemic (NC; intravenous infusion of 0.9% NaCl i.v. plus 43 g of oral Ca, as Ca sulfate and Ca chloride, at -1 and 11h) or an induced SCH [SCHI, 5% ethylene glycol tetraacetic acid (EGTA), a selective iCa(2+) chelator, intravenous infusion] treatment for 24h, using a crossover design. The sequence of treatments was either NC-SCHI or SCHI-NC, with a 6-d washout period. Ionized Ca was evaluated before, hourly during the infusion period, and at 48 and 72 h, to monitor concentrations and adjust the rate of infusion, maintaining blood iCa(2+) insulin in plasma, and urinary excretion of Ca. Total and differential leukocyte count in blood was also performed. The concentration of cytosolic iCa(2+) in neutrophils and lymphocytes was quantified and neutrophil function was assayed in vitro. Infusion of a 5% EGTA solution successfully induced SCH in all SCHI cows, resulting in decreased blood iCa(2+) concentrations throughout the 24-h treatment period (0.77 ± 0.01 vs. 1.26 ± 0.01 mM iCa(2+)). Induction of SCH reduced dry matter intake on the day of infusion (5.3 ± 0.8 vs. 9.1 ± 0.8 kg/d) and rumen contractions (1.9 ± 0.2 vs. 2.7 ± 0.2 contractions/2 min) for the last 12h of infusion. Cows in SCHI had decreased plasma insulin concentration (1.44 ± 0.23 vs. 2.32 ± 0.23 ng/mL) evident between 6 and 18 h after the beginning of the infusion, accompanied by increased concentrations of glucose (4.40 ± 0.04 vs. 4.17 ± 0.04 mM). Plasma nonesterified fatty acids concentration was greater for SCHI than NC cows (0.110 ± 0.019 vs. 0.061 ± 0.014 mM). Neutrophils of cows in SCHI had a faster decrease in cytosolic iCa(2+) after stimulation with ionomycin (9.9 ± 1.0 vs. 13.6 ± 1.4 Fluo-4:Fura Red post-end ratio) in vitro. Furthermore, induction of SCH reduced
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Autosomal-dominant osteopetrosis: An incidental finding
Directory of Open Access Journals (Sweden)
Rajathi Maria
2010-01-01
Full Text Available Osteopetrosis is a descriptive term that refers to a group of rare, heritable disorders of the skeleton. Osteopetrotic conditions vary greatly in their presentation and severity, from just as an incidental finding on radiographs to causing life-threatening complications such as bone marrow suppression. It is caused by failure of osteoclast development and function. Osteopetrosis can be inherited as autosomal-recessive, autosomal-dominant or as X-linked traits, with the most severe forms being the autosomal-recessive ones. The severity of the disease is mild to moderate in the autosomal-dominant forms, with normal life expectancy. Diagnosis is largely based on clinical and radiographic evaluation. The present paper reports a case of autosomal-dominant osteopetrosis complicated by osteomyelitis with a short review of the condition.
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Adult primary hypoparathyroidism: A rare presentation
Chakrabarty, Ashima Datey
2013-01-01
The common causes of stridor in adults are abscesses or swelling of upper airway, tumors, paralysis or malfunction of vocal cords. Laryngospasm due to hypocalcemia is a rare cause of stridor in adults, although occasionally reported in the neonates. We report an elderly lady having stridor and laryngospasm, secondary to acquired hypoparathyroidism and secondary hypocalcemia, without risk factors for hypoparathyroidism such as recent neck surgery or irradiation. We did an extensive review of l...
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TSH elevations as the first laboratory evidence for pseudohypoparathyroidism type Ib (PHP-Ib).
Molinaro, Angelo; Tiosano, Dov; Takatani, Rieko; Chrysis, Dionisios; Russell, William; Koscielniak, Nikolas; Kottler, Marie-Laure; Agretti, Patrizia; De Marco, Giuseppina; Ahtiainen, Petteri; Christov, Marta; Mäkitie, Outi; Tonacchera, Massimo; Jüppner, Harald
2015-05-01
Hypocalcemia and hyperphosphatemia because of resistance toward parathyroid hormone (PTH) in the proximal renal tubules are the most prominent abnormalities in patients affected by pseudohypoparathyroidism type Ib (PHP-Ib). In this rare disorder, which is caused by GNAS methylation changes, resistance can occur toward other hormones, such as thyroid-stimulating hormone (TSH), that mediate their actions through G protein-coupled receptors. However, these additional laboratory abnormalities are usually not recognized until PTH-resistant hypocalcemia becomes clinically apparent. We now describe four pediatric patients, first diagnosed with subclinical or overt hypothyroidism between the ages of 0.2 and 15 years, who developed overt PTH-resistance 3 to 20 years later. Although anti-thyroperoxidase (anti-TPO) antibodies provided a plausible explanation for hypothyroidism in one of these patients, this and two other patients revealed broad epigenetic GNAS abnormalities, which included loss of methylation (LOM) at exons AS, XL, and A/B, and gain of methylation at exon NESP55; ie, findings consistent with PHP-Ib. LOM at GNAS exon A/B alone led in the fourth patient to the identification of a maternally inherited 3-kb STX16 deletion, a well-established cause of autosomal dominant PHP-Ib. Although GNAS methylation changes were not detected in additional pediatric and adult patients with subclinical hypothyroidism (23 pediatric and 39 adult cases), hypothyroidism can obviously be the initial finding in PHP-Ib patients. One should therefore consider measuring PTH, along with calcium and phosphate, in patients with unexplained hypothyroidism for extended periods of time to avoid hypocalcemia and associated clinical complications. © 2014 American Society for Bone and Mineral Research.
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Clinical neurogenetics: autosomal dominant spinocerebellar ataxia.
Shakkottai, Vikram G; Fogel, Brent L
2013-11-01
The autosomal dominant spinocerebellar ataxias are a diverse and clinically heterogeneous group of disorders characterized by degeneration and dysfunction of the cerebellum and its associated pathways. Clinical and diagnostic evaluation can be challenging because of phenotypic overlap among causes, and a stratified and systematic approach is essential. Recent advances include the identification of additional genes causing dominant genetic ataxia, a better understanding of cellular pathogenesis in several disorders, the generation of new disease models that may stimulate development of new therapies, and the use of new DNA sequencing technologies, including whole-exome sequencing, to improve diagnosis. Copyright © 2013 Elsevier Inc. All rights reserved.
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A Danish family with dominant deafness-onychodystrophy syndrome
DEFF Research Database (Denmark)
Vind-Kezunovic, Dina; Torring, Pernille M
2013-01-01
The rare hereditary disorder "dominant deafness and onychodystrophy (DDOD) syndrome" (OMIM 124480) has been described in a few case reports. No putative DDOD gene or locus has been mapped and the cause of the disorder remains unknown.......The rare hereditary disorder "dominant deafness and onychodystrophy (DDOD) syndrome" (OMIM 124480) has been described in a few case reports. No putative DDOD gene or locus has been mapped and the cause of the disorder remains unknown....
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Dietary Inulin Fibers Prevent Proton-Pump Inhibitor (PPI)-Induced Hypocalcemia in Mice.
Hess, Mark W; de Baaij, Jeroen H F; Gommers, Lisanne M M; Hoenderop, Joost G J; Bindels, René J M
2015-01-01
Proton-pump inhibitor-induced hypomagnesemia (PPIH) is the most recognized side effect of proton-pump inhibitors (PPIs). Additionally, PPIH is associated with hypocalcemia and hypokalemia. It is hypothesized that PPIs reduce epithelial proton secretion and thereby increase the pH in the colon, which may explain the reduced absorption of and Mg2+ and Ca2+. Fermentation of dietary oligofructose-enriched inulin fibers by the microflora leads to acidification of the intestinal lumen and by this enhances mineral uptake. This study aimed, therefore, to improve mineral absorption by application of dietary inulin to counteract PPIH. Here, C57BL/J6 mice were supplemented with omeprazole and/or inulin. Subsequently, Mg2+ and Ca2+ homeostasis was assessed by means of serum, urine and fecal electrolyte measurements. Moreover, the mRNA levels of magnesiotropic and calciotropic genes were examined in the large intestine and kidney by real-time PCR. Treatment with omeprazole significantly reduced serum Mg2+ and Ca2+ levels. However, concomitant addition of dietary inulin fibers normalized serum Ca2+ but not serum Mg2+ concentrations. Inulin abolished enhanced expression of Trpv6 and S100g in the colon by omeprazole. Additionally, intestinal and renal mRNA levels of the Trpm6 gene were reduced after inulin intake. This study suggests that dietary inulin counteracts reduced intestinal Ca2+ absorption upon PPI treatment. In contrast, inulin did not increase intestinal absorption of Mg2+ sufficiently to recover serum Mg2+. The clinical potential of dietary inulin treatment should be the subject of future studies.
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FOX, LYLE E.; GREEN, DAVID; YAN, ZIYING; ENGELHARDT, JOHN F.; WU, CHUN-FANG
2007-01-01
Here we report the development of a high-throughput screen to assess dominant mutation rates caused by P-element transposition within the Drosophila genome that is suitable for assessing the undesirable effects of integrating foreign regulatory sequences (viral cargo) into a host genome. Three different behavioral paradigms were used: sensitivity to mechanical stress, response to heat stress, and ability to fly. The results, from our screen of 35,000 flies, indicate that mutations caused by t...
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Directory of Open Access Journals (Sweden)
Myo-Jing Kim
2014-12-01
Full Text Available Autosomal dominant neurohypophyseal diabetes insipidus is a rare form of central diabetes insipidus that is caused by mutations in the vasopressin-neurophysin II (AVP-NPII gene. It is characterized by persistent polydipsia and polyuria induced by deficient or absent secretion of arginine vasopressin (AVP. Here we report a case of familial neurohypophyseal diabetes insipidus in four generations of a Korean family, caused by heterozygous missense mutation in exon 2 of the AVP-NPII gene (c.286G>T. This is the first report of such a case in Korea.
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Domination, Eternal Domination, and Clique Covering
Directory of Open Access Journals (Sweden)
Klostermeyer William F.
2015-05-01
Full Text Available Eternal and m-eternal domination are concerned with using mobile guards to protect a graph against infinite sequences of attacks at vertices. Eternal domination allows one guard to move per attack, whereas more than one guard may move per attack in the m-eternal domination model. Inequality chains consisting of the domination, eternal domination, m-eternal domination, independence, and clique covering numbers of graph are explored in this paper.
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Mosaicism for dominant collagen 6 mutations as a cause for intrafamilial phenotypic variability.
Donkervoort, Sandra; Hu, Ying; Stojkovic, Tanya; Voermans, Nicol C; Foley, A Reghan; Leach, Meganne E; Dastgir, Jahannaz; Bolduc, Véronique; Cullup, Thomas; de Becdelièvre, Alix; Yang, Lin; Su, Hai; Meilleur, Katherine; Schindler, Alice B; Kamsteeg, Erik-Jan; Richard, Pascale; Butterfield, Russell J; Winder, Thomas L; Crawford, Thomas O; Weiss, Robert B; Muntoni, Francesco; Allamand, Valérie; Bönnemann, Carsten G
2015-01-01
Collagen 6-related dystrophies and myopathies (COL6-RD) are a group of disorders that form a wide phenotypic spectrum, ranging from severe Ullrich congenital muscular dystrophy, intermediate phenotypes, to the milder Bethlem myopathy. Both inter- and intrafamilial variable expressivity are commonly observed. We present clinical, immunohistochemical, and genetic data on four COL6-RD families with marked intergenerational phenotypic heterogeneity. This variable expression seemingly masquerades as anticipation is due to parental mosaicism for a dominant mutation, with subsequent full inheritance and penetrance of the mutation in the heterozygous offspring. We also present an additional fifth simplex patient identified as a mosaic carrier. Parental mosaicism was confirmed in the four families through quantitative analysis of the ratio of mutant versus wild-type allele (COL6A1, COL6A2, and COL6A3) in genomic DNA from various tissues, including blood, dermal fibroblasts, and saliva. Consistent with somatic mosaicism, parental samples had lower ratios of mutant versus wild-type allele compared with the fully heterozygote offspring. However, there was notable variability of the mutant allele levels between tissues tested, ranging from 16% (saliva) to 43% (fibroblasts) in one mosaic father. This is the first report demonstrating mosaicism as a cause of intrafamilial/intergenerational variability of COL6-RD, and suggests that sporadic and parental mosaicism may be more common than previously suspected. © 2014 WILEY PERIODICALS, INC.
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Burrage, Lindsay C; Charng, Wu-Lin; Eldomery, Mohammad K; Willer, Jason R; Davis, Erica E; Lugtenberg, Dorien; Zhu, Wenmiao; Leduc, Magalie S; Akdemir, Zeynep C; Azamian, Mahshid; Zapata, Gladys; Hernandez, Patricia P; Schoots, Jeroen; de Munnik, Sonja A; Roepman, Ronald; Pearring, Jillian N; Jhangiani, Shalini; Katsanis, Nicholas; Vissers, Lisenka E L M; Brunner, Han G; Beaudet, Arthur L; Rosenfeld, Jill A; Muzny, Donna M; Gibbs, Richard A; Eng, Christine M; Xia, Fan; Lalani, Seema R; Lupski, James R; Bongers, Ernie M H F; Yang, Yaping
2015-12-03
Meier-Gorlin syndrome (MGS) is a genetically heterogeneous primordial dwarfism syndrome known to be caused by biallelic loss-of-function mutations in one of five genes encoding pre-replication complex proteins: ORC1, ORC4, ORC6, CDT1, and CDC6. Mutations in these genes cause disruption of the origin of DNA replication initiation. To date, only an autosomal-recessive inheritance pattern has been described in individuals with this disorder, with a molecular etiology established in about three-fourths of cases. Here, we report three subjects with MGS and de novo heterozygous mutations in the 5' end of GMNN, encoding the DNA replication inhibitor geminin. We identified two truncating mutations in exon 2 (the 1(st) coding exon), c.16A>T (p.Lys6(∗)) and c.35_38delTCAA (p.Ile12Lysfs(∗)4), and one missense mutation, c.50A>G (p.Lys17Arg), affecting the second-to-last nucleotide of exon 2 and possibly RNA splicing. Geminin is present during the S, G2, and M phases of the cell cycle and is degraded during the metaphase-anaphase transition by the anaphase-promoting complex (APC), which recognizes the destruction box sequence near the 5' end of the geminin protein. All three GMNN mutations identified alter sites 5' to residue Met28 of the protein, which is located within the destruction box. We present data supporting a gain-of-function mechanism, in which the GMNN mutations result in proteins lacking the destruction box and hence increased protein stability and prolonged inhibition of replication leading to autosomal-dominant MGS. Copyright © 2015 The American Society of Human Genetics. Published by Elsevier Inc. All rights reserved.
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Directory of Open Access Journals (Sweden)
Lise Bols Toustrup
2017-03-01
Full Text Available Autosomal dominant familial neurohypophyseal diabetes insipidus (adFNDI is caused by variants in the arginine vasopressin (AVP gene. Here we report the generation of induced pluripotent stem cells (iPSCs from a 42-year-old man carrying an adFNDI causing variant in exon 1 of the AVP gene using lentivirus-mediated nuclear reprogramming. The iPSCs carried the expected variant in the AVP gene. Furthermore, the iPSCs expressed pluripotency markers; displayed in vitro differentiation potential to the three germ layers and had a normal karyotype consistent with the original fibroblasts. This iPSC line is useful in future studies focusing on the pathogenesis of adFNDI.
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Directory of Open Access Journals (Sweden)
Sally H Cross
2014-05-01
Full Text Available Mutations in the LIM-homeodomain transcription factor LMX1B cause nail-patella syndrome, an autosomal dominant pleiotrophic human disorder in which nail, patella and elbow dysplasia is associated with other skeletal abnormalities and variably nephropathy and glaucoma. It is thought to be a haploinsufficient disorder. Studies in the mouse have shown that during development Lmx1b controls limb dorsal-ventral patterning and is also required for kidney and eye development, midbrain-hindbrain boundary establishment and the specification of specific neuronal subtypes. Mice completely deficient for Lmx1b die at birth. In contrast to the situation in humans, heterozygous null mice do not have a mutant phenotype. Here we report a novel mouse mutant Icst, an N-ethyl-N-nitrosourea-induced missense substitution, V265D, in the homeodomain of LMX1B that abolishes DNA binding and thereby the ability to transactivate other genes. Although the homozygous phenotypic consequences of Icst and the null allele of Lmx1b are the same, heterozygous Icst elicits a phenotype whilst the null allele does not. Heterozygous Icst causes glaucomatous eye defects and is semi-lethal, probably due to kidney failure. We show that the null phenotype is rescued more effectively by an Lmx1b transgene than is Icst. Co-immunoprecipitation experiments show that both wild-type and Icst LMX1B are found in complexes with LIM domain binding protein 1 (LDB1, resulting in lower levels of functional LMX1B in Icst heterozygotes than null heterozygotes. We conclude that Icst is a dominant-negative allele of Lmx1b. These findings indicate a reassessment of whether nail-patella syndrome is always haploinsufficient. Furthermore, Icst is a rare example of a model of human glaucoma caused by mutation of the same gene in humans and mice.
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Directory of Open Access Journals (Sweden)
Maria Pardos de la Gandara
Full Text Available A surveillance study in 1996 identified the USA100 clone (ST5/SCCmecII-also known as the "New York/Japan" clone-as the most prevalent MRSA causing infections in 12 New York City hospitals. Here we update the epidemiology of MRSA in seven of the same hospitals eighteen years later in 2013/14. Most of the current MRSA isolates (78 of 121 belonged to the MRSA clone USA300 (CC8/SCCmecIV but the USA100 clone-dominant in the 1996 survey-still remained the second most frequent MRSA (25 of the 121 isolates causing 32% of blood stream infections. The USA300 clone was most common in skin and soft tissue infections (SSTIs and was associated with 84.5% of SSTIs compared to 5% caused by the USA100 clone. Our data indicate that by 2013/14, the USA300 clone replaced the New York/Japan clone as the most frequent cause of MRSA infections in hospitals in Metropolitan New York. In parallel with this shift in the clonal type of MRSA, there was also a striking change in the types of MRSA infections from 1996 to 2014.
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Dominant de novo DSP mutations cause erythrokeratodermia-cardiomyopathy syndrome.
Boyden, Lynn M; Kam, Chen Y; Hernández-Martín, Angela; Zhou, Jing; Craiglow, Brittany G; Sidbury, Robert; Mathes, Erin F; Maguiness, Sheilagh M; Crumrine, Debra A; Williams, Mary L; Hu, Ronghua; Lifton, Richard P; Elias, Peter M; Green, Kathleen J; Choate, Keith A
2016-01-15
Disorders of keratinization (DOK) show marked genotypic and phenotypic heterogeneity. In most cases, disease is primarily cutaneous, and further clinical evaluation is therefore rarely pursued. We have identified subjects with a novel DOK featuring erythrokeratodermia and initially-asymptomatic, progressive, potentially fatal cardiomyopathy, a finding not previously associated with erythrokeratodermia. We show that de novo missense mutations clustered tightly within a single spectrin repeat of DSP cause this novel cardio-cutaneous disorder, which we term erythrokeratodermia-cardiomyopathy (EKC) syndrome. We demonstrate that DSP mutations in our EKC syndrome subjects affect localization of desmosomal proteins and connexin 43 in the skin, and result in desmosome aggregation, widening of intercellular spaces, and lipid secretory defects. DSP encodes desmoplakin, a primary component of desmosomes, intercellular adhesion junctions most abundant in the epidermis and heart. Though mutations in DSP are known to cause other disorders, our cohort features the unique clinical finding of severe whole-body erythrokeratodermia, with distinct effects on localization of desmosomal proteins and connexin 43. These findings add a severe, previously undescribed syndrome featuring erythrokeratodermia and cardiomyopathy to the spectrum of disease caused by mutation in DSP, and identify a specific region of the protein critical to the pathobiology of EKC syndrome and to DSP function in the heart and skin. © The Author 2015. Published by Oxford University Press. All rights reserved. For Permissions, please email: journals.permissions@oup.com.
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Domination versus disjunctive domination in graphs | Henning ...
African Journals Online (AJOL)
Domination versus disjunctive domination in graphs. Michael A Henning, Sinclair A Marcon. Abstract. A dominating set in a graph G is a set S of vertices of G such that every vertex not in S is adjacent to a vertex of S. The domination number of G is the minimum cardinality of a dominating set of G. For a positive integer b, ...
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DEFF Research Database (Denmark)
Ørskov, Bjarne; Feldt-Rasmussen, Bo Friis; Strandgaard, Svend Valdemar
2012-01-01
Abstract Background. With the improved prognosis in patients with autosomal dominant polycystic kidney disease (ADPKD), causes of death and the risk of cancer might have changed. This was investigated in a Danish population with ADPKD and end-stage renal disease (ESRD) between 1 January 1993 and 31...... December 2008. Methods. Data were retrieved from three Danish national registries and a total of 823 patients were identified of which 431 had died during the study period. The 16 years were divided into two 8-year periods and the causes of death were divided into six categories: cancer, cardiovascular......, cerebrovascular, infection, other and unknown. Results. Cardiovascular disease was the major cause of death. A multivariate competing risk model comparing the two 8-year periods, adjusted for age at ESRD, gender and treatment modality, showed that deaths from cardiovascular disease decreased by 35% [hazard ratios...
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Mutations in LOXHD1, a Recessive-Deafness Locus, Cause Dominant Late-Onset Fuchs Corneal Dystrophy
Riazuddin, S. Amer; Parker, David S.; McGlumphy, Elyse J.; Oh, Edwin C.; Iliff, Benjamin W.; Schmedt, Thore; Jurkunas, Ula; Schleif, Robert; Katsanis, Nicholas; Gottsch, John D.
2012-01-01
Fuchs corneal dystrophy (FCD) is a genetic disorder of the corneal endothelium and is the most common cause of corneal transplantation in the United States. Previously, we mapped a late-onset FCD locus, FCD2, on chromosome 18q. Here, we present next-generation sequencing of all coding exons in the FCD2 critical interval in a multigenerational pedigree in which FCD segregates as an autosomal-dominant trait. We identified a missense change in LOXHD1, a gene causing progressive hearing loss in humans, as the sole variant capable of explaining the phenotype in this pedigree. We observed LOXHD1 mRNA in cultured human corneal endothelial cells, whereas antibody staining of both human and mouse corneas showed staining in the corneal epithelium and endothelium. Corneal sections of the original proband were stained for LOXHD1 and demonstrated a distinct increase in antibody punctate staining in the endothelium and Descemet membrane; punctate staining was absent from both normal corneas and FCD corneas negative for causal LOXHD1 mutations. Subsequent interrogation of a cohort of >200 sporadic affected individuals identified another 15 heterozygous missense mutations that were absent from >800 control chromosomes. Furthermore, in silico analyses predicted that these mutations reside on the surface of the protein and are likely to affect the protein's interface and protein-protein interactions. Finally, expression of the familial LOXHD1 mutant allele as well as two sporadic mutations in cells revealed prominent cytoplasmic aggregates reminiscent of the corneal phenotype. All together, our data implicate rare alleles in LOXHD1 in the pathogenesis of FCD and highlight how different mutations in the same locus can potentially produce diverse phenotypes. PMID:22341973
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Khare, Swati; Nick, Jerelyn A; Zhang, Yalan; Galeano, Kira; Butler, Brittany; Khoshbouei, Habibeh; Rayaprolu, Sruti; Hathorn, Tyisha; Ranum, Laura P W; Smithson, Lisa; Golde, Todd E; Paucar, Martin; Morse, Richard; Raff, Michael; Simon, Julie; Nordenskjöld, Magnus; Wirdefeldt, Karin; Rincon-Limas, Diego E; Lewis, Jada; Kaczmarek, Leonard K; Fernandez-Funez, Pedro; Nick, Harry S; Waters, Michael F
2017-01-01
The autosomal dominant spinocerebellar ataxias (SCAs) are a diverse group of neurological disorders anchored by the phenotypes of motor incoordination and cerebellar atrophy. Disease heterogeneity is appreciated through varying comorbidities: dysarthria, dysphagia, oculomotor and/or retinal abnormalities, motor neuron pathology, epilepsy, cognitive impairment, autonomic dysfunction, and psychiatric manifestations. Our study focuses on SCA13, which is caused by several allelic variants in the voltage-gated potassium channel KCNC3 (Kv3.3). We detail the clinical phenotype of four SCA13 kindreds that confirm causation of the KCNC3R423H allele. The heralding features demonstrate congenital onset with non-progressive, neurodevelopmental cerebellar hypoplasia and lifetime improvement in motor and cognitive function that implicate compensatory neural mechanisms. Targeted expression of human KCNC3R423H in Drosophila triggers aberrant wing veins, maldeveloped eyes, and fused ommatidia consistent with the neurodevelopmental presentation of patients. Furthermore, human KCNC3R423H expression in mammalian cells results in altered glycosylation and aberrant retention of the channel in anterograde and/or endosomal vesicles. Confirmation of the absence of plasma membrane targeting was based on the loss of current conductance in cells expressing the mutant channel. Mechanistically, genetic studies in Drosophila, along with cellular and biophysical studies in mammalian systems, demonstrate the dominant negative effect exerted by the mutant on the wild-type (WT) protein, which explains dominant inheritance. We demonstrate that ocular co-expression of KCNC3R423H with Drosophila epidermal growth factor receptor (dEgfr) results in striking rescue of the eye phenotype, whereas KCNC3R423H expression in mammalian cells results in aberrant intracellular retention of human epidermal growth factor receptor (EGFR). Together, these results indicate that the neurodevelopmental consequences of
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Sanjad-Sakati syndrome with macrocytic anemia and failure to thrive: a case from South Jordan.
Ajarmeh, Salma A; Al Tamimi, Eyad M
2018-03-01
Backgorund: Sanjad-Sakati syndrome (SSS) is a rare autosomal recessive disease caused by a deletion mutation (155-166del) in exon 3 of the TBCE gene on chromosome 1q42-43. The syndrome is characterized by primary hypoparathyroidism, typical dysmorphic features and severe growth retardation. We encountered a 2-year-old boy with hypocalcemia, failure to thrive and macrocytic anemia. The patient had the characteristic features of SSS and genetic testing confirmed that he was homozygous for the TBCE mutation. Although malabsorption was initially considered the cause of his symptoms, the results did not confirm that diagnosis. Our patient had cow milk protein allergy and folic acid deficiency, which has not been described in previous SSS cases. It was difficult to treat the patient's hyperphosphatemia and we ultimately selected sevelamer treatment, which was tolerated well and improved his hypocalcemia. SSS should be considered in the differential diagnosis of any infant with hypocalcemia, dysmorphism and failure to thrive.
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Shivanthan, Mitrakrishnan C; Rajapakse, Senaka
2014-01-01
Dengue is potentially fatal unless managed appropriately. No specific treatment is available and the mainstay of treatment is fluid management with careful monitoring, organ support, and correction of metabolic derangement. Evidence with regards to the role of calcium homeostasis in dengue is limited. Low blood calcium levels have been demonstrated in dengue infection and hypocalcemia maybe more pronounced in more severe forms. The cause of hypocalcemia is likely to be multifactorial. Calcium...
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Raffler, Gabriele; Zitt, Emanuel; Sprenger-Mähr, Hannelore; Nagel, Mato; Lhotta, Karl
2016-04-01
Uromodulin (UMOD)-associated kidney disease belongs to the group of autosomal dominant interstitial kidney diseases and is caused by mutations in the UMOD gene. Affected patients present with hyperuricemia, gout, and progressive renal failure. The disease is thought to be very rare but is probably underdiagnosed. Two index patients from two families with tubulointerstitial nephropathy and hyperuricemia were examined, including blood and urine chemistry, ultrasound, and mutation analysis of the UMOD gene. In addition, other available family members were studied. In a 46-year-old female patient with a fractional excretion of uric acid of 3 %, analysis of the UMOD gene revealed a p.W202S missense mutation. The same mutation was found in her 72-year-old father, who suffers from gout and end-stage renal disease. The second index patient was a 47-year-old female with chronic kidney disease and gout for more than 10 years. Her fractional uric acid excretion was 3.5 %. Genetic analysis identified a novel p.H250Q UMOD mutation that was also present in her 12-year-old son, who had normal renal function and uric acid levels. In patients suffering from chronic tubulointerstitial nephropathy, hyperuricemia, and a low fractional excretion of uric acid mutation, analysis of the UMOD gene should be performed to diagnose UMOD-associated kidney disease.
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A new mutation causing autosomal dominant periodic fever syndrome in a Danish family
DEFF Research Database (Denmark)
Weyhreter, Heike; Schwartz, Marianne; Kristensen, Tim D
2003-01-01
We describe four members in a family of 8 individuals over 3 generations with the autosomal dominant inherited periodic fever syndrome tumor necrosis factor receptor-associated periodic syndrome (TRAPS). The patients had recurrent episodes of fever, abdominal pain, arthritis, and rash. We examined...
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International Nuclear Information System (INIS)
Martorell, S.; Munoz, A.; Serradell, V.
1995-01-01
Surveillance requirements and maintenance activities in a nuclear power plant aim to preserve components' inherent reliability. Up to now, predictive and preventive maintenance mainly concerned plant staff, but the US Nuclear Regulatory Commission Maintenance Rule released in July 1991 will have significant impact on how nuclear power plants perform and document this maintenance. Reliability Centered Maintenance (RCM) is a systematic methodology to establish maintenance tasks for critical components in plant with a high degree of compliance with the goals of the Rule. RCM pursues the identification of applicable and efficient tasks to prevent these components from developing their dominant failure causes, and, in turn, towards achieving proper levels of components availability with low cost. In this paper, we present an approach for identifying the most suitable set of tasks to achieve this goal, which involves the integration of maintenance activities and surveillance requirements for each critical component based on the unavailability and cost associated with each individual task which is performed on it
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Chang, Audrey S; Noor, Mohamed A F
2010-01-01
Speciation, the evolution of reproductive isolation between populations, serves as the driving force for generating biodiversity. Postzygotic barriers to gene flow, such as F(1) hybrid sterility and inviability, play important roles in the establishment and maintenance of biological species. F(1) hybrid incompatibilities in taxa that obey Haldane's rule, the observation that the heterogametic sex suffers greater hybrid fitness problems than the homogametic sex, are thought to often result from interactions between recessive-acting X-linked loci and dominant-acting autosomal loci. Because they play such prominent roles in producing hybrid incompatibilities, we examine the dominance and nature of epistasis between alleles derived from Drosophila persimilis that confer hybrid male sterility in the genetic background of its sister species, D. pseudoobscura bogotana. We show that epistasis elevates the apparent dominance of individually recessive-acting QTL such that they can contribute to F(1) hybrid sterility. These results have important implications for assumptions underlying theoretical models of hybrid incompatibilities and may offer a possible explanation for why, to date, identification of dominant-acting autosomal "speciation genes" has been challenging.
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Directory of Open Access Journals (Sweden)
Swati Khare
Full Text Available The autosomal dominant spinocerebellar ataxias (SCAs are a diverse group of neurological disorders anchored by the phenotypes of motor incoordination and cerebellar atrophy. Disease heterogeneity is appreciated through varying comorbidities: dysarthria, dysphagia, oculomotor and/or retinal abnormalities, motor neuron pathology, epilepsy, cognitive impairment, autonomic dysfunction, and psychiatric manifestations. Our study focuses on SCA13, which is caused by several allelic variants in the voltage-gated potassium channel KCNC3 (Kv3.3. We detail the clinical phenotype of four SCA13 kindreds that confirm causation of the KCNC3R423H allele. The heralding features demonstrate congenital onset with non-progressive, neurodevelopmental cerebellar hypoplasia and lifetime improvement in motor and cognitive function that implicate compensatory neural mechanisms. Targeted expression of human KCNC3R423H in Drosophila triggers aberrant wing veins, maldeveloped eyes, and fused ommatidia consistent with the neurodevelopmental presentation of patients. Furthermore, human KCNC3R423H expression in mammalian cells results in altered glycosylation and aberrant retention of the channel in anterograde and/or endosomal vesicles. Confirmation of the absence of plasma membrane targeting was based on the loss of current conductance in cells expressing the mutant channel. Mechanistically, genetic studies in Drosophila, along with cellular and biophysical studies in mammalian systems, demonstrate the dominant negative effect exerted by the mutant on the wild-type (WT protein, which explains dominant inheritance. We demonstrate that ocular co-expression of KCNC3R423H with Drosophila epidermal growth factor receptor (dEgfr results in striking rescue of the eye phenotype, whereas KCNC3R423H expression in mammalian cells results in aberrant intracellular retention of human epidermal growth factor receptor (EGFR. Together, these results indicate that the neurodevelopmental
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Hyperinsulinaemic hypoglycaemia and diabetes mellitus due to dominant ABCC8/KCNJ11 mutations.
LENUS (Irish Health Repository)
Kapoor, R R
2011-10-01
Dominantly acting loss-of-function mutations in the ABCC8\\/KCNJ11 genes can cause mild medically responsive hyperinsulinaemic hypoglycaemia (HH). As controversy exists over whether these mutations predispose to diabetes in adulthood we investigated the prevalence of diabetes in families with dominantly inherited ATP-sensitive potassium (K(ATP)) channel mutations causing HH in the proband.
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Total Domination Versus Paired-Domination in Regular Graphs
Directory of Open Access Journals (Sweden)
Cyman Joanna
2018-05-01
Full Text Available A subset S of vertices of a graph G is a dominating set of G if every vertex not in S has a neighbor in S, while S is a total dominating set of G if every vertex has a neighbor in S. If S is a dominating set with the additional property that the subgraph induced by S contains a perfect matching, then S is a paired-dominating set. The domination number, denoted γ(G, is the minimum cardinality of a dominating set of G, while the minimum cardinalities of a total dominating set and paired-dominating set are the total domination number, γt(G, and the paired-domination number, γpr(G, respectively. For k ≥ 2, let G be a connected k-regular graph. It is known [Schaudt, Total domination versus paired domination, Discuss. Math. Graph Theory 32 (2012 435–447] that γpr(G/γt(G ≤ (2k/(k+1. In the special case when k = 2, we observe that γpr(G/γt(G ≤ 4/3, with equality if and only if G ≅ C5. When k = 3, we show that γpr(G/γt(G ≤ 3/2, with equality if and only if G is the Petersen graph. More generally for k ≥ 2, if G has girth at least 5 and satisfies γpr(G/γt(G = (2k/(k + 1, then we show that G is a diameter-2 Moore graph. As a consequence of this result, we prove that for k ≥ 2 and k ≠ 57, if G has girth at least 5, then γpr(G/γt(G ≤ (2k/(k +1, with equality if and only if k = 2 and G ≅ C5 or k = 3 and G is the Petersen graph.
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Autosomal dominant frontometaphyseal dysplasia : Delineation of the clinical phenotype
Wade, Emma M.; Jenkins, Zandra A.; Daniel, Philip B.; Morgan, Tim; Addor, Marie C.; Ades, Lesley C.; Bertola, Debora; Bohring, Axel; Carter, Erin; Cho, Tae-Joon; de Geus, Christa M.; Duba, Hans-Christoph; Fletcher, Elaine; Hadzsiev, Kinga; Hennekam, Raoul C. M.; Kim, Chong A.; Krakow, Deborah; Morava, Eva; Neuhann, Teresa; Sillence, David; Superti-Furga, Andrea; Veenstra-Knol, Hermine E.; Wieczorek, Dagmar; Wilson, Louise C.; Markie, David M.; Robertson, Stephen P.
Frontometaphyseal dysplasia (FMD) is caused by gain-of-function mutations in the X-linked gene FLNA in approximately 50% of patients. Recently we characterized an autosomal dominant form of FMD (AD-FMD) caused by mutations in MAP3K7, which accounts for the condition in the majority of patients who
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Autosomal dominant frontometaphyseal dysplasia: Delineation of the clinical phenotype
Wade, Emma M.; Jenkins, Zandra A.; Daniel, Philip B.; Morgan, Tim; Addor, Marie C.; Adés, Lesley C.; Bertola, Debora; Bohring, Axel; Carter, Erin; Cho, Tae-Joon; de Geus, Christa M.; Duba, Hans-Christoph; Fletcher, Elaine; Hadzsiev, Kinga; Hennekam, Raoul C. M.; Kim, Chong A.; Krakow, Deborah; Morava, Eva; Neuhann, Teresa; Sillence, David; Superti-Furga, Andrea; Veenstra-Knol, Hermine E.; Wieczorek, Dagmar; Wilson, Louise C.; Markie, David M.; Robertson, Stephen P.
2017-01-01
Frontometaphyseal dysplasia (FMD) is caused by gain-of-function mutations in the X-linked gene FLNA in approximately 50% of patients. Recently we characterized an autosomal dominant form of FMD (AD-FMD) caused by mutations in MAP3K7, which accounts for the condition in the majority of patients who
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Gaynor, P J; Mueller, F J; Miller, J K; Ramsey, N; Goff, J P; Horst, R L
1989-10-01
Jersey cows were fed three alfalfa haylage-based diets with different cation-anion balances beginning 6 wk preceding third or later calving and ending 24 to 36 h postpartum. Sodium and Cl as percentages of dietary DM were .08 and 1.66 in diet 1 (anionic, 5 cows), .44 and .91 in diet 2 (intermediate, 6 cows), and 1.60 and .34 in diet 3 (cationic, 6 cows). Cation-anion balances were 22, 60, and 126 meq/100 g DM; Ca:P ratios averaged 4:1. Cows fed diet 1 in comparison with cows fed diets 2 or 3 over 6 wk had similar concentrations of Ca, P, and Na but higher concentrations of Mg and K in plasma and higher urinary excretions of Ca and Mg. Concentrations of 1,25-dihydroxyvitamin D 3 d before parturition were higher in cows fed diet 1 than in cows fed diets 2 or 3. Within 36 h after calving, mean concentrations of Ca in plasma (mg/dl, range) of cows fed diets 1 to 3, respectively, were 7 (8.7 to 6.2), 6.5 (7.8 to 3.9), and 6.3 (7.8 to 3.8). Number of cases of clinical milk fever by diet were 0 of 5, 2 of 6, and 1 of 6 cows. Alteration of dietary cation-anion balance by addition of Cl may effectively reduce incidence and severity of parturient hypocalcemia.
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Mitochondrial recessive ataxia syndrome mimicking dominant spinocerebellar ataxia.
Palin, Eino J H; Hakonen, Anna H; Korpela, Mari; Paetau, Anders; Suomalainen, Anu
2012-04-15
We studied the genetic background of a family with SCA, showing dominant inheritance and anticipation. Muscle histology, POLG1 gene sequence, neuropathology and mitochondrial DNA analyses in a mother and a son showed typical findings for a mitochondrial disorder, and both were shown to be homozygous for a recessive POLG1 mutation, underlying mitochondrial recessive ataxia syndrome, MIRAS. The healthy father was a heterozygous carrier for the same mutation. Recessively inherited MIRAS mutations should be tested in dominantly inherited SCAs cases of unknown cause, as the high carrier frequency of MIRAS may result in two independent introductions of the mutant allele in the family and thereby mimic dominant inheritance. Copyright © 2011 Elsevier B.V. All rights reserved.
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Lee, Sang-Soo; Lee, Hye Jin; Park, Jin-Mo; Hong, Young Bin; Park, Kee-Duk; Yoo, Jeong Hyun; Koo, Heasoo; Jung, Sung-Chul; Park, Hyung Soon; Lee, Ji Hyun; Lee, Min Goo; Hyun, Young Se; Nakhro, Khriezhanou; Chung, Ki Wha; Choi, Byung-Ok
2013-05-01
Hereditary motor and sensory neuropathy with proximal dominance (HMSN-P) has been reported as a rare type of autosomal dominant adult-onset Charcot-Marie-Tooth disease. HMSN-P has been described only in Japanese descendants since 1997, and the causative gene has not been found. To identify the genetic cause of HMSN-P in a Korean family and determine the pathogenic mechanism. Genetic and observational analysis. Translational research center for rare neurologic disease. Twenty-eight individuals (12 men and 16 women) from a Korean family with HMSN-P. Whole-exome sequencing, linkage analysis, and magnetic resonance imaging. Through whole-exome sequencing, we revealed that HMSN-P is caused by a mutation in the TRK-fused gene (TFG). Clinical heterogeneities were revealed in HMSN-P between Korean and Japanese patients. The patients in the present report showed faster progression of the disease compared with the Japanese patients, and sensory nerve action potentials of the sural nerve were lost in the early stages of the disease. Moreover, tremor and hyperlipidemia were frequently found. Magnetic resonance imaging of the lower extremity revealed a distinct proximal dominant and sequential pattern of muscular involvement with a clearly different pattern than patients with Charcot-Marie-Tooth disease type 1A. Particularly, endoneural blood vessels revealed marked narrowing of the lumen with swollen vesicular endothelial cells. The underlying cause of HMSN-P proves to be a mutation in TFG that lies on chromosome 3q13.2. This disease is not limited to Japanese descendants, and marked narrowing of endoneural blood vessels was noted in the present study. We believe that TFG can affect the peripheral nerve tissue.
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Deletion of Indian hedgehog gene causes dominant semi-lethal Creeper trait in chicken
Jin, Sihua; Zhu, Feng; Wang, Yanyun; Yi, Guoqiang; Li, Junying; Lian, Ling; Zheng, Jiangxia; Xu, Guiyun; Jiao, Rengang; Gong, Yu; Hou, Zhuocheng; Yang, Ning
2016-01-01
The Creeper trait, a classical monogenic phenotype of chicken, is controlled by a dominant semi-lethal gene. This trait has been widely cited in the genetics and molecular biology textbooks for illustrating autosomal dominant semi-lethal inheritance over decades. However, the genetic basis of the Creeper trait remains unknown. Here we have utilized ultra-deep sequencing and extensive analysis for targeting causative mutation controlling the Creeper trait. Our results indicated that the deletion of Indian hedgehog (IHH) gene was only found in the whole-genome sequencing data of lethal embryos and Creeper chickens. Large scale segregation analysis demonstrated that the deletion of IHH was fully linked with early embryonic death and the Creeper trait. Expression analysis showed a much lower expression of IHH in Creeper than wild-type chickens. We therefore suggest the deletion of IHH to be the causative mutation for the Creeper trait in chicken. Our findings unravel the genetic basis of the longstanding Creeper phenotype mystery in chicken as the same gene also underlies bone dysplasia in human and mouse, and thus highlight the significance of IHH in animal development and human haploinsufficiency disorders. PMID:27439785
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[Autosomal dominant polycystic kidney].
Jorge Adad, S; Estevão Barbosa, M; Fácio Luíz, J M; Furlan Rodrigues, M C; Iwamoto, S
1996-01-01
A 48-year-old male had autosomic dominant polycystic kidneys with dimensions, to the best of our knowledge, never previously reported; the right kidney weighed 15,100 g and measured 53 x 33 x 9cm and the left one 10.200 g and 46 x 21 x 7cm, with cysts measuring up to 14cm in diameter. Nephrectomy was done to control persistent hematuria and to relief disconfort caused by the large kidneys. The renal function is stable four years after transplantation.
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Ulmer, John L; Hacein-Bey, Lotfi; Mathews, Vincent P; Mueller, Wade M; DeYoe, Edgar A; Prost, Robert W; Meyer, Glenn A; Krouwer, Hendrikus G; Schmainda, Kathleen M
2004-09-01
To illustrate how lesion-induced neurovascular uncoupling at functional magnetic resonance imaging (fMRI) can mimic hemispheric dominance opposite the side of a lesion preoperatively. We retrospectively reviewed preoperative fMRI mapping data from 50 patients with focal brain abnormalities to establish patterns of hemispheric dominance of language, speech, visual, or motor system functions. Abnormalities included gliomas (31 patients), arteriovenous malformations (AVMs) (11 patients), other congenital lesions (4 patients), encephalomalacia (3 patients), and tumefactive encephalitis (1 patient). A laterality ratio of fMRI hemispheric dominance was compared with actual hemispheric dominance as verified by electrocortical stimulation, Wada testing, postoperative and posttreatment deficits, and/or lesion-induced deficits. fMRI activation maps were generated with cross-correlation (P frontal gyrus gliomas and in one patient with focal tumefactive meningoencephalitis, fMRI incorrectly suggested strong right hemispheric speech dominance. In two patients with lateral precentral gyrus region gliomas and one patient with a left central sulcus AVM, the fMRI pattern incorrectly suggested primary corticobulbar motor dominance contralateral to the side of the lesion. In a patient with a right superior frontal gyrus AVM, fMRI revealed pronounced left dominant supplementary motor area activity in response to a bilateral complex motor task, but right superior frontal gyrus perilesional hemorrhage and edema subsequently caused left upper-extremity plegia. Pathophysiological factors that might have caused neurovascular uncoupling and facilitated pseudo-dominance at fMRI in these patients included direct tumor infiltration, neovascularity, cerebrovascular inflammation, and AVM-induced hemodynamic effects. Sixteen patients had proven (1 patient), probable (2 patients), or possible (13 patients) but unproven lesion-induced homotopic cortical reorganization. Lesion-induced neurovascular
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Adult primary hypoparathyroidism: A rare presentation
Directory of Open Access Journals (Sweden)
Ashima Datey Chakrabarty
2013-01-01
Full Text Available The common causes of stridor in adults are abscesses or swelling of upper airway, tumors, paralysis or malfunction of vocal cords. Laryngospasm due to hypocalcemia is a rare cause of stridor in adults, although occasionally reported in the neonates. We report an elderly lady having stridor and laryngospasm, secondary to acquired hypoparathyroidism and secondary hypocalcemia, without risk factors for hypoparathyroidism such as recent neck surgery or irradiation. We did an extensive review of literature to find only a few cases of acquired primary hypoparathyroidism in adults with the only complaint being stridor. This case underlines the fact that a common symptom like stridor rarely occurs due to uncommon causes. This case is being reported for its rarity and amenability to complete cure in event of correct diagnosis.
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Directory of Open Access Journals (Sweden)
Tsutomu Ogata
Full Text Available BACKGROUND: Although TBX1 mutations have been identified in patients with 22q11.2 deletion syndrome (22q11.2DS-like phenotypes including characteristic craniofacial features, cardiovascular anomalies, hypoparathyroidism, and thymic hypoplasia, the frequency of TBX1 mutations remains rare in deletion-negative patients. Thus, it would be reasonable to perform a comprehensive genetic analysis in deletion-negative patients with 22q11.2DS-like phenotypes. METHODOLOGY/PRINCIPAL FINDINGS: We studied three subjects with craniofacial features and hypocalcemia (group 1, two subjects with craniofacial features alone (group 2, and three subjects with normal phenotype within a single Japanese family. Fluorescence in situ hybridization analysis excluded chromosome 22q11.2 deletion, and genomewide array comparative genomic hybridization analysis revealed no copy number change specific to group 1 or groups 1+2. However, exome sequencing identified a heterozygous TBX1 frameshift mutation (c.1253delA, p.Y418fsX459 specific to groups 1+2, as well as six missense variants and two in-frame microdeletions specific to groups 1+2 and two missense variants specific to group 1. The TBX1 mutation resided at exon 9C and was predicted to produce a non-functional truncated protein missing the nuclear localization signal and most of the transactivation domain. CONCLUSIONS/SIGNIFICANCE: Clinical features in groups 1+2 are well explained by the TBX1 mutation, while the clinical effects of the remaining variants are largely unknown. Thus, the results exemplify the usefulness of exome sequencing in the identification of disease-causing mutations in familial disorders. Furthermore, the results, in conjunction with the previous data, imply that TBX1 isoform C is the biologically essential variant and that TBX1 mutations are associated with a wide phenotypic spectrum, including most of 22q11.2DS phenotypes.
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DEFF Research Database (Denmark)
Ørskov, Bjarne; Sørensen, Vibeke Rømming; Feldt-Rasmussen, Bo Friis
2012-01-01
Abstract Background. With the improved prognosis in patients with autosomal dominant polycystic kidney disease (ADPKD), causes of death and the risk of cancer might have changed. This was investigated in a Danish population with ADPKD and end-stage renal disease (ESRD) between 1 January 1993 and 31...... December 2008. Methods. Data were retrieved from three Danish national registries and a total of 823 patients were identified of which 431 had died during the study period. The 16 years were divided into two 8-year periods and the causes of death were divided into six categories: cancer, cardiovascular...... (HR) 0.65, P = 0.008] and deaths from cerebrovascular disease decreased by 69% (HR 0.31, P = 0.0003) from the first to the second time period. There were no significant changes between the time periods in death from cancer, infection, other or unknown. From the first to the second 8-year interval...
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Hypocalcemic action of the several types of salicylic acid analogues.
Kato, Y; Nishishita, K; Sakai, H; Tatsumi, M; Yamamoto, K
1989-02-01
The present study was performed to see the structure-activity relationships on the aspirin-induced hypocalcemia. Several kinds of salicylic acid (SA) analogues administered orally with a stomach tube. In general, the drugs were suspended in the 2% CMC solution. At the scheduled times after the treatment, 60 microliters of the blood was collected to determine the level of calcium. Aspirin, sodium salt of o-hydroxybenzoic acid (Na-salicylate), sodium salt of m- and p-hydroxybenzoic acid (HBA), 2,5-dihydroxybenzoic acid (DHBA), PAS sodium dihydrate (PAS-Na), salicylamide (SAM) and 2% CMC control were used. Hypocalcemia was induced by aspirin and Na-salicylate but not by m- and p-HBA-Na. In addition, DHBA and PAS caused hypocalcemia when they were administered intravenously but not orally. These results suggest that the carboxyl group must be adjacent to the hydroxyl group on the benzene ring to induce this type of hypocalcemia and that the SA structure would be able to induce hypocalcemia, even in the presence of the additional third substituent on the same ring. On the comparison between aspirin-DL lysine (water soluble aspirin) and SA-DL lysine, SA-DL lysine, which is not an inhibitor of PG synthetase, was more effective on the hypocalcemic action than ASP-DL lysine. The phenomenon was observed at the stage especially immediately after intravenous injection, when the acetyl group may be more responsible to acetylate the PG synthetase in the aspirin-DL lysine group. The present results seems to be consistent with the previous hypothesis that PGs are not involved in the process of aspirin-induced hypocalcemia in the rat.
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Murphy, V A; Rapoport, S I
1988-06-28
Recent studies have shown regulation of central nervous system [Ca] after chronic hypo- and hypercalcemia. To investigate the mechanism of this regulation, 3-week-old rats were fed diets for 8 weeks that contained low or normal levels of Ca. Plasma [Ca] was 40% less in rats fed the low Ca diet than in animals fed normal diet. Unidirectional transfer coefficients for Ca (KCa) and Cl (KCl) into cerebrospinal fluid (CSF) and brain were determined from the 10 min uptake of intravenously injected 45Ca and 36Cl in awake animals. KCa for CSF was 68% greater in low-Ca rats than in normal rats. Likewise, the values of KCa for brain regions with areas adjacent to the ventricles like the hippocampus and pons-medulla were 50% higher than in normal animals. On the other hand, KCas for parietal cortex, a brain region distant from the choroid plexus and not expected to be influenced by Ca entry into CSF, were similar between the groups. Comparison of the regional ratios of KCa/KCl revealed that a selective increase of Ca transport occurred into CSF and all brain regions except the parietal cortex in Ca-deficient rats. The results suggest that Ca homeostasis of CSF and brain [Ca] during chronic hypocalcemia is due to increased transfer of Ca from blood to brain, and that the regulation occurs via the CSF, possibly at the choroid plexus, but not via the cerebral capillaries.
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Hypocalcaemia following total thyroidectomy: An analysis of 806 patients.
Nair, C Gopalakrishnan; Babu, Misha J C; Menon, Riju; Jacob, Pradeep
2013-03-01
Permanent hypocalcaemia following thyroidectomy causes considerable morbidity. This prospective observational study aims to define the factors likely to predict hypocalcaemia following total thyroidectomy. Patients who were subjected to total thyroidectomy during January 2005 to December 2009 were followed up for a minimum period of 1 year. Efficacy of an intraoperative parathyroid hormone assay to predict hypocalcaemia was validated. Overall incidence of hypocalcaemia was 23.6% (n = 190) and that of permanent hypocalcaemia was 1.61% (n = 13). Onset was delayed up to 3(rd) postoperative day in 13 patients. Hypocalcaemia was significantly associated with thyroidectomy for Grave's Disease (P = 0.001), Hashimoto's thyroiditis (P = 0.003), and with incidental parathyroidectomy (P = 0.006). The intraoperative assay of parathyroid hormone showed low sensitivity (0.5) and satisfactory specificity (0.9) in predicting hypocalcemia. Hypocalcemia could manifest late in the immediate postoperative period and this may explain latent hypocalcemia. High incidence of hypocalcaemia noted in Grave's Disease could be due to the autoimmunity since same feature was noted associated with Hashimoto's thyroiditis and the incidence of hypocalcaemia was not high in the subgroup with toxic nodular goiter. The incidence of hypocalcemia was not affected by age or sex.
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Radiation-induced dominant skeletal mutations in mice
International Nuclear Information System (INIS)
Selby, P.B.
1979-01-01
Skeletons were chosen for the attempt to determine the overall damage by radiation to one body system largely bacause they can be prepared readily for detailed study. Dominant mutations were of special interest because they are the type of mutations that would account for almost all damage induced in the early generations. The male offsprings derived from spermatogonial irradiation were used in the mutation-rate experiment, and the mutation frequency of 1.4% per gamete was found. The general dominant skeletal mutations are 1) the fusions of bones or other changes in individual bones, 2) the gross changes in bone shapes, usually caused by incomplete or too extensive bone growth, or 3) the shifts in the relative positions of bones. The recessive lethality in the period between implantation and birth can be recognized by the expected high death rate of implants in approximately 1/4 of the crosses that are between heterozygotes for a given mutation. The recessive lethal mutations may account for an important fraction of human genetic disorders owing to their dominant deleterious effects which represent only a small fraction, but because of their easy detection, they have been studied more than other dominants. At least 45, or 27%, of 164 dominant visibles in mice, ignoring those concerned with enzyme polymorphisms and immunological traits, appear to be recessive lethals. (Yamashita, S.)
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Inheritance - sex-linked dominant; Genetics - sex-linked dominant; X-linked dominant; Y-linked dominant ... can be either an autosomal chromosome or a sex chromosome. It also depends on whether the trait ...
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When the BRANCHED network bears fruit: how carpic dominance causes fruit dimorphism in Aethionema
Czech Academy of Sciences Publication Activity Database
Lenser, T.; Tarkowská, Danuše; Novák, Ondřej; Wilhelmsson, P.; Bennett, T.; Rensing, S. A.; Strnad, Miroslav; Theissen, G.
2018-01-01
Roč. 94, č. 2 (2018), s. 352-371 ISSN 0960-7412 R&D Projects: GA MŠk(CZ) LO1204 Institutional support: RVO:61389030 Keywords : Aethionema arabicum * auxin * branched1 * carpic dominance * cytokinin * fruit development * fruit dimorphism * molecular evolution * phytohormones * shoot branching Subject RIV: EB - Genetics ; Molecular Biology OBOR OECD: Plant sciences, botany Impact factor: 5.901, year: 2016
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DEFF Research Database (Denmark)
Basmanav, F Buket; Oprisoreanu, Ana-Maria; Pasternack, Sandra M
2014-01-01
Dowling-Degos disease (DDD) is an autosomal-dominant genodermatosis characterized by progressive and disfiguring reticulate hyperpigmentation. We previously identified loss-of-function mutations in KRT5 but were only able to detect pathogenic mutations in fewer than half of our subjects. To ident...
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Thyroid function in healthy and unhealthy preterm newborns
African Journals Online (AJOL)
2018-06-02
Jun 2, 2018 ... Thyroid function in healthy and unhealthy preterm newborns. Gökten Korkmaz1 ... disruptions of this system can cause permanent damage. Unrecognized early .... hypoglycemia, hypocalcemia and malnutrition. Some rare.
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Autosomal Dominant Growth Hormone Deficiency (Type II).
Alatzoglou, Kyriaki S; Kular, Dalvir; Dattani, Mehul T
2015-06-01
Isolated growth hormone deficiency (IGHD) is the commonest pituitary hormone deficiency resulting from congenital or acquired causes, although for most patients its etiology remains unknown. Among the known factors, heterozygous mutations in the growth hormone gene (GH1) lead to the autosomal dominant form of GHD, also known as type II GHD. In many cohorts this is the commonest form of congenital isolated GHD and is mainly caused by mutations that affect the correct splicing of GH-1. These mutations cause skipping of the third exon and lead to the production of a 17.5-kDa GH isoform that exerts a dominant negative effect on the secretion of the wild type GH. The identification of these mutations has clinical implications for the management of patients, as there is a well-documented correlation between the severity of the phenotype and the increased expression of the 17.5-kDa isoform. Patients with type II GHD have a variable height deficit and severity of GHD and may develop additional pituitary hormone defiencies over time, including ACTH, TSH and gonadotropin deficiencies. Therefore, their lifelong follow-up is recommended. Detailed studies on the effect of heterozygous GH1 mutations on the trafficking, secretion and action of growth hormone can elucidate their mechanism on a cellular level and may influence future treatment options for GHD type II.
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Johnson, Sheri L; Carver, Charles S
2012-12-15
The dominance behavioral system has been conceptualized as a biologically based system comprising motivation to achieve social power and self-perceptions of power. Biological, behavioral, and social correlates of dominance motivation and self-perceived power have been related to a range of psychopathological tendencies. Preliminary evidence suggests that mania and risk for mania (manic temperament) relate to the dominance system. Four studies examine whether manic temperament, measured with the Hypomanic Personality Scale (HPS), is related to elevations in dominance motivation, self-perceptions of power, and engagement in socially dominant behavior across multiple measures. In Study 1, the HPS correlated with measures of dominance motivation and the pursuit of extrinsically-oriented ambitions for fame and wealth among 454 undergraduates. In Study 2, the HPS correlated with perceptions of power and extrinsically-oriented lifetime ambitions among 780 undergraduates. In Study 3, the HPS was related to trait-like tendencies to experience hubristic (dominance-related) pride, as well as dominance motivation and pursuit of extrinsically-oriented ambitions. In Study 4, we developed the Socially Dominant Behavior Scale to capture behaviors reflecting high power. The scale correlated highly with the HPS among 514 undergraduates. The studies rely on self-ratings of manic temperament and dominance constructs, and findings have not yet been generalized to a clinical sample. Taken together, results support the hypothesis that manic temperament is related to a focus on achieving social dominance, ambitions related to achieving social recognition, perceptions of having achieved power, tendencies to experience dominance-related pride, and engagement in social behaviors consistent with this elevated sense of power. Copyright © 2012 Elsevier B.V. All rights reserved.
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A novel mutation in the ELOVL4 gene causes autosomal dominant Stargardt-like macular dystrophy.
Maugeri, A.; Meire, F.; Hoyng, C.B.; Vink, C.W.; Regemorter, N. van; Karan, G.; Yang, Z.; Cremers, F.P.M.; Zhang, K.
2004-01-01
PURPOSE: To conduct clinical and genetic studies in a European family with autosomal dominant Stargardt-like macular dystrophy (adSTGD-like MD) and to investigate the functional consequences of a novel ELOVL4 mutation. METHODS: Ophthalmic examination and mutation screening by direct sequencing of
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Jellyfish blooms in China: Dominant species, causes and consequences
International Nuclear Information System (INIS)
Dong Zhijun; Liu Dongyan; Keesing, John K.
2010-01-01
Three jellyfish species, Aurelia aurita, Cyanea nozakii and Nemopilema nomurai, form large blooms in Chinese seas. We report on the distribution and increasing incidence of jellyfish blooms and their consequences in Chinese coastal seas and analyze their relationship to anthropogenically derived changes to the environment in order to determine the possible causes. A. aurita, C. nozakii and N. nomurai form blooms in the temperate Chinese seas including the northern East China Sea, Yellow Sea and Bohai Sea. N. nomurai forms offshore blooms while the other two species bloom mainly in inshore areas. Eutrophication, overfishing, habitat modification for aquaculture and climate change are all possible contributory factors facilitating plausible mechanisms for the proliferation of jellyfish blooms. In the absence of improvement in coastal marine ecosystem health, jellyfish blooms could be sustained and may even spread from the locations in which they now occur.
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Hypocalcaemia following total thyroidectomy: An analysis of 806 patients
Directory of Open Access Journals (Sweden)
C Gopalakrishnan Nair
2013-01-01
Full Text Available Background: Permanent hypocalcaemia following thyroidectomy causes considerable morbidity. This prospective observational study aims to define the factors likely to predict hypocalcaemia following total thyroidectomy. Materials and Methods: Patients who were subjected to total thyroidectomy during January 2005 to December 2009 were followed up for a minimum period of 1 year. Efficacy of an intraoperative parathyroid hormone assay to predict hypocalcaemia was validated. Results: Overall incidence of hypocalcaemia was 23.6% ( n = 190 and that of permanent hypocalcaemia was 1.61% ( n = 13. Onset was delayed up to 3 rd postoperative day in 13 patients. Hypocalcaemia was significantly associated with thyroidectomy for Grave′s Disease ( P = 0.001, Hashimoto′s thyroiditis ( P = 0.003, and with incidental parathyroidectomy ( P = 0.006. The intraoperative assay of parathyroid hormone showed low sensitivity (0.5 and satisfactory specificity (0.9 in predicting hypocalcemia. Conclusion: Hypocalcemia could manifest late in the immediate postoperative period and this may explain latent hypocalcemia. High incidence of hypocalcaemia noted in Grave′s Disease could be due to the autoimmunity since same feature was noted associated with Hashimoto′s thyroiditis and the incidence of hypocalcaemia was not high in the subgroup with toxic nodular goiter. The incidence of hypocalcemia was not affected by age or sex.
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Hypocalcaemia following total thyroidectomy: An analysis of 806 patients
Nair, C. Gopalakrishnan; Babu, Misha J. C.; Menon, Riju; Jacob, Pradeep
2013-01-01
Background: Permanent hypocalcaemia following thyroidectomy causes considerable morbidity. This prospective observational study aims to define the factors likely to predict hypocalcaemia following total thyroidectomy. Materials and Methods: Patients who were subjected to total thyroidectomy during January 2005 to December 2009 were followed up for a minimum period of 1 year. Efficacy of an intraoperative parathyroid hormone assay to predict hypocalcaemia was validated. Results: Overall incidence of hypocalcaemia was 23.6% (n = 190) and that of permanent hypocalcaemia was 1.61% (n = 13). Onset was delayed up to 3rd postoperative day in 13 patients. Hypocalcaemia was significantly associated with thyroidectomy for Grave's Disease (P = 0.001), Hashimoto's thyroiditis (P = 0.003), and with incidental parathyroidectomy (P = 0.006). The intraoperative assay of parathyroid hormone showed low sensitivity (0.5) and satisfactory specificity (0.9) in predicting hypocalcemia. Conclusion: Hypocalcemia could manifest late in the immediate postoperative period and this may explain latent hypocalcemia. High incidence of hypocalcaemia noted in Grave's Disease could be due to the autoimmunity since same feature was noted associated with Hashimoto's thyroiditis and the incidence of hypocalcaemia was not high in the subgroup with toxic nodular goiter. The incidence of hypocalcemia was not affected by age or sex. PMID:23776907
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Relating 2-Rainbow Domination To Roman Domination
Directory of Open Access Journals (Sweden)
Alvarado José D.
2017-11-01
Full Text Available For a graph G, let R(G and yr2(G denote the Roman domination number of G and the 2-rainbow domination number of G, respectively. It is known that yr2(G ≤ R(G ≤ 3/2yr2(G. Fujita and Furuya [Difference between 2-rainbow domination and Roman domination in graphs, Discrete Appl. Math. 161 (2013 806-812] present some kind of characterization of the graphs G for which R(G − yr2(G = k for some integer k. Unfortunately, their result does not lead to an algorithm that allows to recognize these graphs efficiently. We show that for every fixed non-negative integer k, the recognition of the connected K4-free graphs G with yR(G − yr2(G = k is NP-hard, which implies that there is most likely no good characterization of these graphs. We characterize the graphs G such that yr2(H = yR(H for every induced subgraph H of G, and collect several properties of the graphs G with R(G = 3/2yr2(G.
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Directory of Open Access Journals (Sweden)
Li eJiang
2014-04-01
Full Text Available RNA interference (RNAi knockdown is an efficacious therapeutic strategy for silencing genes causative for dominant retinal dystrophies. To test this, we used self-complementary (sc AAV2/8 vector to develop an RNAi-based therapy in two dominant retinal degeneration mouse models. The allele-specific model expresses transgenic bovine GCAP1(Y99C establishing a rapid RP-like phenotype, whereas the nonallele-specific model expresses mouse GCAP1(L151F producing a slowly progressing cone/rod dystrophy (CORD. The late onset GCAP1(L151F-CORD mimics the dystrophy observed in human GCAP1-CORD patients. Subretinal injection of scAAV2/8 carrying shRNA expression cassettes specific for bovine or mouse GCAP1 showed strong expression at one week post-injection. In both allele-specific (GCAP1(Y99C-RP and nonallele-specific (GCAP1(L151F-CORD models of dominant retinal dystrophy, RNAi-mediated gene silencing enhanced photoreceptor survival, delayed onset of degeneration and improved visual function. Such results provide a proof of concept toward effective RNAi-based gene therapy mediated by scAAV2/8 for dominant retinal disease based on GCAP1 mutation. Further, nonallele-specific RNAi knockdown of GCAP1 may prove generally applicable toward the rescue of any human GCAP1-based dominant cone-rod dystrophy.
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Directory of Open Access Journals (Sweden)
Chopra Vanilla
2011-02-01
Full Text Available Abstract Introduction New-onset headaches in the elderly are usually secondary and rarely primary. We present the case of an elderly man with recent-onset headache due to uremic hyperphosphatemia and hypocalcemia. To the best of our knowledge, this is the first case report of its kind in the literature. Case presentation We present the case of a 70-year-old Indian man with chronic kidney disease whose new-onset headache improved only when his hyperphosphatemia and hypocalcemia were corrected. He had diffuse, dense calcification of tentorium cerebelli and falx due to hyperphosphatemia. Conclusions This case report reinforces the importance of identifying the cause of a new-onset headache, particularly in the elderly, and treating it before blaming a tension headache or primary headache as the cause.
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A Danish family with dominant deafness-onychodystrophy syndrome.
Vind-Kezunovic, Dina; Torring, Pernille M
2013-01-01
The rare hereditary disorder "dominant deafness and onychodystrophy (DDOD) syndrome" (OMIM 124480) has been described in a few case reports. No putative DDOD gene or locus has been mapped and the cause of the disorder remains unknown. We present here three male family members in three generations with sensori-neural deafness, onychodystrophy and brachydactyly inherited via autosomal dominant transmission. The family members presented with absent fingernails on the first and fifth digits. As to the feet, there were absent nails on second to fifth toes in two family members, whereas the third family member only had absent nails on the fifth toe. The proband had late dentition and his father a history of late dentition, but otherwise the teeth appeared normal. Comparative genomic hybridization array analysis (Agilent 400k oligoarray) of the proband did not detect any copy number variation. This Danish family fits within the spectrum of dominant deafness and onychodystrophy syndrome and further characterises this rare disorder.
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DEFF Research Database (Denmark)
White, Janson; Mazzeu, Juliana F; Hoischen, Alexander
2015-01-01
Robinow syndrome is a genetically heterogeneous disorder characterized by mesomelic limb shortening, genital hypoplasia, and distinctive facial features and for which both autosomal-recessive and autosomal-dominant inheritance patterns have been described. Causative variants in the non-canonical ...
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Hedetniemi, ST
1991-01-01
The contributions in this volume are divided into three sections: theoretical, new models and algorithmic. The first section focuses on properties of the standard domination number &ggr;(G), the second section is concerned with new variations on the domination theme, and the third is primarily concerned with finding classes of graphs for which the domination number (and several other domination-related parameters) can be computed in polynomial time.
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The paired-domination and the upper paired-domination numbers of graphs
Directory of Open Access Journals (Sweden)
Włodzimierz Ulatowski
2015-01-01
Full Text Available In this paper we continue the study of paired-domination in graphs. A paired-dominating set, abbreviated PDS, of a graph \\(G\\ with no isolated vertex is a dominating set of vertices whose induced subgraph has a perfect matching. The paired-domination number of \\(G\\, denoted by \\(\\gamma_{p}(G\\, is the minimum cardinality of a PDS of \\(G\\. The upper paired-domination number of \\(G\\, denoted by \\(\\Gamma_{p}(G\\, is the maximum cardinality of a minimal PDS of \\(G\\. Let \\(G\\ be a connected graph of order \\(n\\geq 3\\. Haynes and Slater in [Paired-domination in graphs, Networks 32 (1998, 199-206], showed that \\(\\gamma_{p}(G\\leq n-1\\ and they determine the extremal graphs \\(G\\ achieving this bound. In this paper we obtain analogous results for \\(\\Gamma_{p}(G\\. Dorbec, Henning and McCoy in [Upper total domination versus upper paired-domination, Questiones Mathematicae 30 (2007, 1-12] determine \\(\\Gamma_{p}(P_n\\, instead in this paper we determine \\(\\Gamma_{p}(C_n\\. Moreover, we describe some families of graphs \\(G\\ for which the equality \\(\\gamma_{p}(G=\\Gamma_{p}(G\\ holds.
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Directory of Open Access Journals (Sweden)
Helene Persak
2014-02-01
Full Text Available In any living species, stress adaptation is closely linked with major changes of the gene expression profile. As a substrate protein of the rapidly stress-induced mitogen-activated protein kinase MPK3, Arabidopsis transcription factor MYB44 likely acts at the front line of stress-induced re-programming. We recently characterized MYB44 as phosphorylation-dependent positive regulator of salt stress signaling. Molecular events downstream of MYB44 are largely unknown. Although MYB44 binds to the MBSII element in vitro, it has no discernible effect on MBSII-driven reporter gene expression in plant co-transfection assays. This may suggest limited abundance of a synergistic co-regulator. MYB44 carries a putative transcriptional repression (Ethylene responsive element binding factor-associated Amphiphilic Repression, EAR motif. We employed a dominant repressor strategy to gain insights into MYB44-conferred stress resistance. Overexpression of a MYB44-REP fusion markedly compromised salt and drought stress tolerance—the opposite was seen in MYB44 overexpression lines. MYB44-mediated resistance likely results from induction of tolerance-enhancing, rather than from repression of tolerance-diminishing factors. Salt stress-induced accumulation of destructive reactive oxygen species is efficiently prevented in transgenic MYB44, but accelerated in MYB44-REP lines. Furthermore, heterologous overexpression of MYB44-REP caused tissue collapse in Nicotiana. A mechanistic model of MAPK-MYB-mediated enhancement in the antioxidative capacity and stress tolerance is proposed. Genetic engineering of MYB44 variants with higher trans-activating capacity may be a means to further raise stress resistance in crops.
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Basmanav, F. Buket; Oprisoreanu, Ana-Maria; Pasternack, Sandra M.; Thiele, Holger; Fritz, Günter; Wenzel, Jörg; Größer, Leopold; Wehner, Maria; Wolf, Sabrina; Fagerberg, Christina; Bygum, Anette; Altmüller, Janine; Rütten, Arno; Parmentier, Laurent; El Shabrawi-Caelen, Laila; Hafner, Christian; Nürnberg, Peter; Kruse, Roland; Schoch, Susanne; Hanneken, Sandra; Betz, Regina C.
2014-01-01
Dowling-Degos disease (DDD) is an autosomal-dominant genodermatosis characterized by progressive and disfiguring reticulate hyperpigmentation. We previously identified loss-of-function mutations in KRT5 but were only able to detect pathogenic mutations in fewer than half of our subjects. To identify additional causes of DDD, we performed exome sequencing in five unrelated affected individuals without mutations in KRT5. Data analysis identified three heterozygous mutations from these individuals, all within the same gene. These mutations, namely c.11G>A (p.Trp4∗), c.652C>T (p.Arg218∗), and c.798-2A>C, are within POGLUT1, which encodes protein O-glucosyltransferase 1. Further screening of unexplained cases for POGLUT1 identified six additional mutations, as well as two of the above described mutations. Immunohistochemistry of skin biopsies of affected individuals with POGLUT1 mutations showed significantly weaker POGLUT1 staining in comparison to healthy controls with strong localization of POGLUT1 in the upper parts of the epidermis. Immunoblot analysis revealed that translation of either wild-type (WT) POGLUT1 or of the protein carrying the p.Arg279Trp substitution led to the expected size of about 50 kDa, whereas the c.652C>T (p.Arg218∗) mutation led to translation of a truncated protein of about 30 kDa. Immunofluorescence analysis identified a colocalization of the WT protein with the endoplasmic reticulum and a notable aggregating pattern for the truncated protein. Recently, mutations in POFUT1, which encodes protein O-fucosyltransferase 1, were also reported to be responsible for DDD. Interestingly, both POGLUT1 and POFUT1 are essential regulators of Notch activity. Our results furthermore emphasize the important role of the Notch pathway in pigmentation and keratinocyte morphology. PMID:24387993
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Describing the organization of dominance relationships by dominance-directed tree method.
Izar, Patrícia; Ferreira, Renata G; Sato, Takechi
2006-02-01
Methods to describe dominance hierarchies are a key tool in primatology studies. Most current methods are appropriate for analyzing linear and near-linear hierarchies; however, more complex structures are common in primate groups. We propose a method termed "dominance-directed tree." This method is based on graph theory and set theory to analyze dominance relationships in social groups. The method constructs a transitive matrix by imposing transitivity to the dominance matrix and produces a graphical representation of the dominance relationships, which allows an easy visualization of the hierarchical position of the individuals, or subsets of individuals. The method is also able to detect partial and complete hierarchies, and to describe situations in which hierarchical and nonhierarchical principles operate. To illustrate the method, we apply a dominance tree analysis to artificial data and empirical data from a group of Cebus apella. Copyright 2006 Wiley-Liss, Inc.
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Angular-momentum-dominated electron beams and flat-beam generation
International Nuclear Information System (INIS)
Sun, Yin-e
2005-01-01
In the absence of external forces, if the dynamics within an electron beam is dominated by its angular momentum rather than other effects such as random thermal motion or self Coulomb-repulsive force (i.e., space-charge force), the beam is said to be angular-momentum-dominated. Such a beam can be directly applied to the field of electron-cooling of heavy ions; or it can be manipulated into an electron beam with large transverse emittance ratio, i.e., a flat beam. A flat beam is of interest for high-energy electron-positron colliders or accelerator-based light sources. An angular-momentum-dominated beam is generated at the Fermilab/NICADD photoinjector Laboratory (FNPL) and is accelerated to an energy of 16 MeV. The properties of such a beam is investigated systematically in experiment. The experimental results are in very good agreement with analytical expectations and simulation results. This lays a good foundation for the transformation of an angular-momentum-dominated beam into a flat beam. The round-to-flat beam transformer is composed of three skew quadrupoles. Based on a good knowledge of the angular-momentum-dominated beam, the quadrupoles are set to the proper strengths in order to apply a total torque which removes the angular momentum, resulting in a flat beam. For bunch charge around 0.5 nC, an emittance ratio of 100 ± 5 was measured, with the smaller normalized root-mean-square emittance around 0.4 mm-mrad. Effects limiting the flat-beam emittance ratio are investigated, such as the chromatic effects in the round-to-flat beam transformer, asymmetry in the initial angular-momentum-dominated beam, and space-charge effects. The most important limiting factor turns out to be the uncorrelated emittance growth caused by space charge when the beam energy is low, for example, in the rf gun area. As a result of such emittance growth prior to the round-to-flat beam transformer, the emittance ratio achievable in simulation decreases from orders of thousands to
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Angular-momentum-dominated electron beams and flat-beam generation
Energy Technology Data Exchange (ETDEWEB)
Sun, Yin-e [Univ. of Chicago, IL (United States)
2005-06-01
In the absence of external forces, if the dynamics within an electron beam is dominated by its angular momentum rather than other effects such as random thermal motion or self Coulomb-repulsive force (i.e., space-charge force), the beam is said to be angular-momentum-dominated. Such a beam can be directly applied to the field of electron-cooling of heavy ions; or it can be manipulated into an electron beam with large transverse emittance ratio, i.e., a flat beam. A flat beam is of interest for high-energy electron-positron colliders or accelerator-based light sources. An angular-momentum-dominated beam is generated at the Fermilab/NICADD photoinjector Laboratory (FNPL) and is accelerated to an energy of 16 MeV. The properties of such a beam is investigated systematically in experiment. The experimental results are in very good agreement with analytical expectations and simulation results. This lays a good foundation for the transformation of an angular-momentum-dominated beam into a flat beam. The round-to-flat beam transformer is composed of three skew quadrupoles. Based on a good knowledge of the angular-momentum-dominated beam, the quadrupoles are set to the proper strengths in order to apply a total torque which removes the angular momentum, resulting in a flat beam. For bunch charge around 0.5 nC, an emittance ratio of 100 ± 5 was measured, with the smaller normalized root-mean-square emittance around 0.4 mm-mrad. Effects limiting the flat-beam emittance ratio are investigated, such as the chromatic effects in the round-to-flat beam transformer, asymmetry in the initial angular-momentum-dominated beam, and space-charge effects. The most important limiting factor turns out to be the uncorrelated emittance growth caused by space charge when the beam energy is low, for example, in the rf gun area. As a result of such emittance growth prior to the round-to-flat beam transformer, the emittance ratio achievable in simulation decreases from orders of thousands to
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Callea, Michele; Cammarata-Scalisi, Francisco; Willoughby, Colin E; Giglio, Sabrina R; Sani, Ilaria; Bargiacchi, Sara; Traficante, Giovanna; Bellacchio, Emanuele; Tadini, Gianluca; Yavuz, Izzet; Galeotti, Angela; Clarich, Gabriella
2017-02-01
Hypohidrotic ectodermal dysplasia (HED) is a rare disease characterized by deficiency in development of structure derived from the ectoderm and is caused by mutations in the genes EDA, EDAR, or EDARADD. Phenotypes caused by mutations in these three may exhibit similar clinical features, explained by a common signaling pathway. Mutations in EDA gene cause X linked HED, which is the most common form. Mutations in EDAR and EDARADD genes cause autosomal dominant and recessive form of HED. The most striking clinical findings in HED are hypodontia, hypotrichosis and hypohidrosis that can lead to episodes of hyperthermia. We report on clinical findings in a child with HED with autosomal dominant inheritance pattern with a heterozygous mutation c.1072C>T (p.Arg358X) in the EDAR gene. A review of the literature with regard to other cases presenting the same mutation has been carried out and discussed. Sociedad Argentina de Pediatría.
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Nomoto, Hiroshi; Miyoshi, Hideaki; Nakamura, Akinobu; Nagai, So; Kitao, Naoyuki; Shimizu, Chikara; Atsumi, Tatsuya
2017-01-01
Abstract Rationale: Saccharated ferric oxide has been shown to lead to elevation of fibroblast growth factor 23, hypophosphatemia, and, consequently, osteomalacia. Moreover, mineral imbalance is often observed in patients with short-bowel syndrome to some degree. Patient concerns: A 62-year-old woman with short-bowel syndrome related with multiple resections of small intestines due to Crohn disease received regular intravenous administration of saccharated ferric oxide. Over the course of treatment, she was diagnosed with tetany, which was attributed to hypocalcemia. Additional assessments of the patient revealed not only hypocalcemia, but also hypophosphatemia, hypomagnesemia, osteomalacia, and a high concentration of fibroblast growth factor 23 (314 pg/mL). Diagnoses: We diagnosed her with mineral imbalance-induced osteomalacia due to saccharated ferric oxide and short-bowel syndrome. Interventions: Magnesium replacement therapy and discontinuation of saccharated ferric oxide alone. Outcomes: These treatments were able to normalize her serum mineral levels and increase her bone mineral density. Lessons: This case suggests that adequate evaluation of serum minerals, including phosphate and magnesium, during saccharated ferric oxide administration may be necessary, especially in patients with short-bowel syndrome. PMID:28953654
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Johnson, Sheri L.; Carver, Charles S.
2012-01-01
The dominance behavioral system has been conceptualized as a biologically based system comprising motivation to achieve social power and self-perceptions of power. Biological, behavioral, and social correlates of dominance motivation and self-perceived power have been related to a range of psychopathological tendencies. Preliminary evidence suggests that mania and risk for mania (manic temperament) relate to the dominance system.
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Hypocalcaemia: Causes, diagnostics and treatment
Directory of Open Access Journals (Sweden)
Janković Slobodan
2014-01-01
Full Text Available Hypocalcaemia is a state with total calcium serum level below 2.25 mM/l. From the total serum calcium content, 50% is free and ionized, 40% is protein-bound and 10% is bound for organic anions. The most frequent causes of hypocalcaemia are iatrogenic hypoparathyroidism, magnesium deficit, disorders of vitamin D metabolism and chronic renal failure. Iatrogenic hypoparathyroidism is associated with low serum ionized calcium and low serum parathormone levels. There are two important clinical signs of hypocalcemia: Chvostek's sign (twitches of upper lip after percussion on facial nerve over mandible and Trousseau's sign (carpal spasm after increasing pressure in blood pressure cuff placed about the upper arm for 20 milimeters above systolic pressure for 3-5 minutes. The following lab analyses should be performed when hypocalcaemia is an option: serum levels of creatinine, calcium, magnesium, 25 - hydroxyvitamin, parathormone, potassium, sodium, chloride and bicarbonates. If hypocalcaemia is mild, it could be treated with oral calcium preparations, usually calcium carbonate, in a dose of 1 to 2 grams of elemental calcium daily. In more severe hypocalcaemia intravenous calcium-gluconate or calcium-chloride should be administered, as 10% solutions. These parenteral preparations of calcium should be diluted prior to the intravenous administration, and the administration should be longer than 20 minutes in order to avoid adverse effects on heart. If administration of calcium does not correct hypocalcaemia, oral vitamin D should be also prescribed. If this does not regulate calcaemia, from 0.25 to 1 micrograms of 1,25-dihydroxyvitamin D (clacitriol daily should be prescribed. Calcium serum levels should be kept within the lower part of normal serum concentration range.
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A New Algorithm Using the Non-Dominated Tree to Improve Non-Dominated Sorting.
Gustavsson, Patrik; Syberfeldt, Anna
2018-01-01
Non-dominated sorting is a technique often used in evolutionary algorithms to determine the quality of solutions in a population. The most common algorithm is the Fast Non-dominated Sort (FNS). This algorithm, however, has the drawback that its performance deteriorates when the population size grows. The same drawback applies also to other non-dominating sorting algorithms such as the Efficient Non-dominated Sort with Binary Strategy (ENS-BS). An algorithm suggested to overcome this drawback is the Divide-and-Conquer Non-dominated Sort (DCNS) which works well on a limited number of objectives but deteriorates when the number of objectives grows. This article presents a new, more efficient algorithm called the Efficient Non-dominated Sort with Non-Dominated Tree (ENS-NDT). ENS-NDT is an extension of the ENS-BS algorithm and uses a novel Non-Dominated Tree (NDTree) to speed up the non-dominated sorting. ENS-NDT is able to handle large population sizes and a large number of objectives more efficiently than existing algorithms for non-dominated sorting. In the article, it is shown that with ENS-NDT the runtime of multi-objective optimization algorithms such as the Non-Dominated Sorting Genetic Algorithm II (NSGA-II) can be substantially reduced.
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Orskov, Bjarne; Sørensen, Vibeke Rømming; Feldt-Rasmussen, Bo; Strandgaard, Svend
2012-04-01
With the improved prognosis in patients with autosomal dominant polycystic kidney disease (ADPKD), causes of death and the risk of cancer might have changed. This was investigated in a Danish population with ADPKD and end-stage renal disease (ESRD) between 1 January 1993 and 31 December 2008. Data were retrieved from three Danish national registries and a total of 823 patients were identified of which 431 had died during the study period. The 16 years were divided into two 8-year periods and the causes of death were divided into six categories: cancer, cardiovascular, cerebrovascular, infection, other and unknown. Cardiovascular disease was the major cause of death. A multivariate competing risk model comparing the two 8-year periods, adjusted for age at ESRD, gender and treatment modality, showed that deaths from cardiovascular disease decreased by 35% [hazard ratios (HR) 0.65, P=0.008] and deaths from cerebrovascular disease decreased by 69% (HR 0.31, P=0.0003) from the first to the second time period. There were no significant changes between the time periods in death from cancer, infection, other or unknown. From the first to the second 8-year interval, the prevalence of cancer increased by 35% (P=0.0002) while the cancer incidence was stable. In Danish patients with ADPKD and ESRD, there was a significant reduction in cardiovascular and cerebrovascular deaths from 1993 to 2008. The prevalence of cancer increased without significant change in cancer incidence or deaths from cancer.
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Nomoto, Hiroshi; Miyoshi, Hideaki; Nakamura, Akinobu; Nagai, So; Kitao, Naoyuki; Shimizu, Chikara; Atsumi, Tatsuya
2017-09-01
Saccharated ferric oxide has been shown to lead to elevation of fibroblast growth factor 23, hypophosphatemia, and, consequently, osteomalacia. Moreover, mineral imbalance is often observed in patients with short-bowel syndrome to some degree. A 62-year-old woman with short-bowel syndrome related with multiple resections of small intestines due to Crohn disease received regular intravenous administration of saccharated ferric oxide. Over the course of treatment, she was diagnosed with tetany, which was attributed to hypocalcemia. Additional assessments of the patient revealed not only hypocalcemia, but also hypophosphatemia, hypomagnesemia, osteomalacia, and a high concentration of fibroblast growth factor 23 (314 pg/mL). We diagnosed her with mineral imbalance-induced osteomalacia due to saccharated ferric oxide and short-bowel syndrome. Magnesium replacement therapy and discontinuation of saccharated ferric oxide alone. These treatments were able to normalize her serum mineral levels and increase her bone mineral density. This case suggests that adequate evaluation of serum minerals, including phosphate and magnesium, during saccharated ferric oxide administration may be necessary, especially in patients with short-bowel syndrome.
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Fine mapping of dominant X-linked incompatibility alleles in Drosophila hybrids.
Matute, Daniel R; Gavin-Smyth, Jackie
2014-04-01
Sex chromosomes have a large effect on reproductive isolation and play an important role in hybrid inviability. In Drosophila hybrids, X-linked genes have pronounced deleterious effects on fitness in male hybrids, which have only one X chromosome. Several studies have succeeded at locating and identifying recessive X-linked alleles involved in hybrid inviability. Nonetheless, the density of dominant X-linked alleles involved in interspecific hybrid viability remains largely unknown. In this report, we study the effects of a panel of small fragments of the D. melanogaster X-chromosome carried on the D. melanogaster Y-chromosome in three kinds of hybrid males: D. melanogaster/D. santomea, D. melanogaster/D. simulans and D. melanogaster/D. mauritiana. D. santomea and D. melanogaster diverged over 10 million years ago, while D. simulans (and D. mauritiana) diverged from D. melanogaster over 3 million years ago. We find that the X-chromosome from D. melanogaster carries dominant alleles that are lethal in mel/san, mel/sim, and mel/mau hybrids, and more of these alleles are revealed in the most divergent cross. We then compare these effects on hybrid viability with two D. melanogaster intraspecific crosses. Unlike the interspecific crosses, we found no X-linked alleles that cause lethality in intraspecific crosses. Our results reveal the existence of dominant alleles on the X-chromosome of D. melanogaster which cause lethality in three different interspecific hybrids. These alleles only cause inviability in hybrid males, yet have little effect in hybrid females. This suggests that X-linked elements that cause hybrid inviability in males might not do so in hybrid females due to differing sex chromosome interactions.
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Cook, Jennifer Louise; den Ouden, Hanneke E M; Heyes, Cecilia M; Cools, Roshan
2014-12-01
Dominant individuals report high levels of self-sufficiency, self-esteem, and authoritarianism. The lay stereotype suggests that such individuals ignore information from others, preferring to make their own choices. However, the nonhuman animal literature presents a conflicting view, suggesting that dominant individuals are avid social learners, whereas subordinates focus on learning from private experience. Whether dominant humans are best characterized by the lay stereotype or the animal view is currently unknown. Here, we present a "social dominance paradox": using self-report scales and computerized tasks, we demonstrate that socially dominant people explicitly value independence, but, paradoxically, in a complex decision-making task, they show an enhanced reliance (relative to subordinate individuals) on social learning. More specifically, socially dominant people employed a strategy of copying other agents when the agents' responses had a history of being correct. However, in humans, two subtypes of dominance have been identified: aggressive and social. Aggressively dominant individuals, who are as likely to "get their own way" as socially dominant individuals but who do so through the use of aggressive or Machiavellian tactics, did not use social information, even when it was beneficial to do so. This paper presents the first study of dominance and social learning in humans and challenges the lay stereotype in which all dominant individuals ignore others' views. The more subtle perspective we offer could have important implications for decision making in both the boardroom and the classroom. Copyright © 2014 Elsevier Ltd. All rights reserved.
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Malaysia’s 2008 General Election – Transition from Single-party Dominance?
Directory of Open Access Journals (Sweden)
William Case
2010-01-01
Full Text Available Leading theories of transitions from single-party dominant systems begin with economic crisis, the party’s loss of patronage resources, and elite-level defections. The multiparty elections that are then held exert no independent effect, but instead register neutrally the party’s decline and the democratization of politics. This paper, however, shifts attention from the dominant party to citizens and elections in non-crisis conditions. It argues that on key dimensions citizens assess the dominant party’s legitimacy or worthiness of support. Further, where they grow critical of its policy outputs, they scrutinize more closely its conformity to procedures. And as they anticipate that their voting preferences will be thwarted by electoral manipulations, they vote in protest, perhaps producing a “liberalizing electoral outcome.” Elections, then, do not simply indicate the dominant party’s decline. By deepening alienation, they help citizens to cause it. Analysis is set in Malaysia, long an exemplar of single-party dominance, but recently a case in which the government was dealt a striking electoral setback.
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Plasma lipoprotein(a) levels in patients with homozygous autosomal dominant hypercholesterolemia
Sjouke, B.; Yahya, R.; Tanck, M.W.T.; Defesche, J.C.; Graaf, J. de; Wiegman, A.; Kastelein, J.J.; Mulder, M.T.; Hovingh, G.K.; Roeters van Lennep, J.E.
2017-01-01
BACKGROUND: Patients with autosomal dominant hypercholesterolemia (ADH), caused by mutations in either low-density lipoprotein receptor (LDLR), apolipoprotein B (APOB), or proprotein convertase subtilisin-kexin type 9 (PCSK9) are characterized by high low-density lipoprotein cholesterol levels and
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2×2 dominant achievement goal profiles in high-level swimmers.
Fernandez-Rio, Javier; Cecchini Estrada, Jose A; Mendez-Giménez, Antonio; Fernández-Garcia, Benjamín; Saavedra, Pablo
2014-01-01
The goal of this study was to assess achievement goal dominance, self-determined situational motivation and competence in high-level swimmers before and after three training sessions set at different working intensities (medium, sub-maximal and maximal). Nineteen athletes (males, n=9, 18.00±2.32 years; females, n=10, 16.30±2.01 years, range = 14-18) agreed to participate. They completed a questionnaire that included the Dominant Achievement Goal assessment instrument, the 2×2 Achievement Goals Questionnaire for Sport (AGQ-S), The Situational Motivation Scale (SIMS) and the Competence subscale of the Basic Psychological Needs in Exercise questionnaire (BPNES). Results indicated that participants overwhelmingly showed mastery-approach achievement goal dominance, and it remained stable at the conclusion of the different training sessions under all intensity levels. This profile was positively correlated to self-determined situational motivation and competence. However, swimmers' feelings of competence increased only after the medium intensity level training session. After the completion of the maximal intensity training session, swimmers' self-determined motivation was significantly lower compared to the other two training sessions, which could be caused by a temporary period of burnout. Results indicated that high-level swimmers had a distinct mastery-approach dominant achievement goal profile that was not affected by the workload of the different training sessions. They also showed high levels of self-determined situational motivation and competence. However, heavy workloads should be controlled because they can cause transitory burnout.
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Directory of Open Access Journals (Sweden)
Antiñolo Guillermo
2006-04-01
Full Text Available Abstract Background Retinitis pigmentosa (RP, a clinically and genetically heterogeneous group of retinal degeneration disorders affecting the photoreceptor cells, is one of the leading causes of genetic blindness. Mutations in the photoreceptor-specific gene RP1 account for 3–10% of cases of autosomal dominant RP (adRP. Most of these mutations are clustered in a 500 bp region of exon 4 of RP1. Methods Denaturing gradient gel electrophoresis (DGGE analysis and direct genomic sequencing were used to evaluate the 5' coding region of exon 4 of the RP1 gene for mutations in 150 unrelated index adRP patients. Ophthalmic and electrophysiological examination of RP patients and relatives according to pre-existing protocols were carried out. Results Three novel disease-causing mutations in RP1 were detected: Q686X, K705fsX712 and K722fsX737, predicting truncated proteins. One novel missense mutation, Thr752Met, was detected in one family but the mutation does not co-segregate in the family, thereby excluding this amino acid variation in the protein as a cause of the disease. We found the Arg677Ter mutation, previously reported in other populations, in two independent families, confirming that this mutation is also present in a Spanish population. Conclusion Most of the mutations reported in the RP1 gene associated with adRP are expected to encode mutant truncated proteins that are approximately one third or half of the size of wild type protein. Patients with mutations in RP1 showed mild RP with variability in phenotype severity. We also observed several cases of non-penetrant mutations.
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Plasma lipoprotein(a) levels in patients with homozygous autosomal dominant hypercholesterolemia
Sjouke, Barbara; Yahya, Reyhana; Tanck, Michael W. T.; Defesche, Joep C.; de Graaf, Jacqueline; Wiegman, Albert; Kastelein, John J. P.; Mulder, Monique T.; Hovingh, G. Kees; Roeters van Lennep, Jeanine E.
2017-01-01
Patients with autosomal dominant hypercholesterolemia (ADH), caused by mutations in either low-density lipoprotein receptor (LDLR), apolipoprotein B (APOB), or proprotein convertase subtilisin-kexin type 9 (PCSK9) are characterized by high low-density lipoprotein cholesterol levels and in some
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Directory of Open Access Journals (Sweden)
Hong-Yang Wang
2015-01-01
Full Text Available Background: There are more than 300 genetic loci that have been found to be related to hereditary hearing impairment (HHI, including 92 causative genes for nonsyndromic hearing loss, among which 34 genes are related to autosomal dominant nonsyndromic HHI (ADNSHHI. Traditional linkage analysis and candidate gene sequencing are not effective at detecting the ADNSHHI, especially for the unconditional families that may have more than one pathogenic cause. This study identified two disease-causing genes TJP2 and GJB2 in a Chinese family with unconditional ADNSHHI. Methods: To decipher the genetic code of a Chinese family (family 686 with ADNSHHI, different gene screening techniques have been performed, including linkage analysis, candidate genes screening, high-throughput sequencing and Sanger sequencing. These techniques were done on samples obtained from this family over a period of 10 years. Results: We identified a pathogenic missense mutation, c. 2081G>A (p.G694E, in TJP2, a gene that plays a crucial role in apoptosis and age-related hearing loss (ARHL. The mutation was co-segregated in this pedigree in all, but not in the two patients who presented with different phenotypes from the other affected family members. In one of the two patients, we confirmed that the compound heterozygosity for p.Y136FNx01 and p.G45E in the GJB2 gene may account for the phenotype shown in this patient. Conclusions: We identified the co-occurrence of two genetic causes in family 686. The possible disease-causing missense mutation of TJP2 in family 686 presents an opportunity for further investigation into ARHL. It is necessary to combine various genes screening methods, especially for some unconventional cases.
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Directory of Open Access Journals (Sweden)
Ye J
2018-04-01
Full Text Available Jianzhen Ye,1 Guangrui Deng,1 Feng Gao2 1Department of Endocrinology, Huangzhou District People’s Hospital, Huanggang, People’s Republic of China; 2Department of Endocrinology, Union Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, People’s Republic of China Abstract: Etelcalcetide is the first intravenous calcimimetic agent authorized for the treatment of secondary hyperparathyroidism (sHPT in patients undergoing hemodialysis in Europe, the US, and Japan. The relationship between sHPT and diabetes resides on complex, bidirectional effects and largely unknown homeostatic mechanisms. Although 30% or more patients with end-stage renal disease are diabetics and about the same percentage of those patients suffer from sHPT associated with hemodialysis, no data on the specificities of the use of etelcalcetide in such patients are available yet. Regarding pharmacokinetic interactions, etelcalcetide may compete with oral hypoglycemics recommended for use in patients undergoing hemodialysis and insulins detemir and degludec, causing unexpected hypocalcemia or hypoglycemia. More importantly, hypocalcemia, a common side effect of etelcalcetide, may cause decompensation of preexisting cardiac insufficiency in diabetic patients or worsen dialysis-related hypotension and lead to hypotension-related cardiac events, such as myocardial ischemia. In diabetic patients, hypocalcemia may lead to dangerous ventricular arrhythmias, as both insulin-related hypoglycemia and hemodialysis prolong QT interval. Patients with diabetes, therefore, should be strictly monitored for hypocalcemia and associated effects. Due to an altered parathormone activity in this patient group, plasma calcium should be the preferred indicator of etelcalcetide effects. Until more clinical experience with etelcalcetide is available, the clinicians should be cautious when using this calcimimetic in patients with diabetes. Keywords: glucose intolerance
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Hereditary 1,25-dihydroxyvitamin D-resistant rickets (HVDRR) is caused by mutations in the vitamin D receptor gene. Children with HVDRR suffer from severe hypocalcemia and rickets that are treatable with extremely high-dose calcium supplements. Surprisingly, spontaneous recovery of calcium metabolis...
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Frontal Tasks and Behavior in Rigid or Tremor-Dominant Parkinson Disease.
Moretti, Rita; Milner, Vera; Caruso, Paola; Gazzin, Silvia; Rumiati, Raffaella
2017-08-01
Parkinson disease (PD) is not an unambiguous entity, and there is a general consensus for the statement that an akinetic-rigid dominant type of presentation has a worse prognosis, in the follow-up. The aim of our study was to examine the differences in frontal tasks and behavior, in 2 PD naive groups: the rigid and the tremor-dominant types of presentation, according to motor scores. Our study has showed some important differences in frontal tasks and in behavior, performing more apathy, aggressiveness, and irritability in the rigid type, and more depression and anxiety in the tremor-dominant type. The former group causes the caregiver more distress and has a very rapid disease progression. It can be argued that rigid type PD presentation needs specific dedicated cares and more strong clinical attention.
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Directory of Open Access Journals (Sweden)
Barış İşak
2010-09-01
Full Text Available In this report, we present a unique case in which the chemotherapeutic agent, i.e., zoledronic acid, deepened the hypocalcemia on the basis of chronic renal failure secondary to multiple myeloma and caused parkinsonism episodes. An 80-year-old female patient, who had been diagnosed as multiple myeloma and had been administered bisphosphonate therapy monthly for six months, was ad¬mitted to our emergency room with two parkinsonism episodes. Low serum calcium levels accompanied parkinsonism symptoms, which subsided with calcium replacement therapy in both episodes. Imaging did not reveal any pathology in the basal ganglia. The fact that the patient was cured both times with calcium replacement suggests that hypocalcemia was the actual cause. This can be interpreted as a unique case, reflecting the reversible functional impairment due to metabolic side effects of a chemotherapeutic agent rather than destructive changes in the basal ganglia.
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Directory of Open Access Journals (Sweden)
Barış İşak
2010-09-01
Full Text Available In this report, we present a unique case in which the chemotherapeutic agent, i.e., zoledronic acid, deepened the hypocalcemia on the basis of chronic renal failure secondary to multiple myeloma and caused parkinsonism episodes. An 80-year-old female patient, who had been diagnosed as multiple myeloma and had been administered bisphosphonate therapy monthly for six months, was ad¬mitted to our emergency room with two parkinsonism episodes. Low serum calcium levels accompanied parkinsonism symptoms, which subsided with calcium replacement therapy in both episodes. Imaging did not reveal any pathology in the basal ganglia. The fact that the patient was cured both times with calcium replacement suggests that hypocalcemia was the actual cause. This can be interpreted as a unique case, reflecting the reversible functional impairment due to metabolic side effects of a chemotherapeutic agent rather than destructive changes in the basal ganglia
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From nature-dominated to human-dominated environmental changes
Messerli, Bruno; Grosjean, Martin; Hofer, Thomas; Núñez, Lautaro; Pfister, Christian
2000-01-01
To what extent is it realistic and useful to view human history as a sequence of changes from highly vulnerable societies of hunters and gatherers through periods with less vulnerable, well buffered and highly productive agrarian-urban societies to a world with regions of extreme overpopulation and overuse of life support systems, so that vulnerability to climatic-environmental changes and extreme events is again increasing? This question cannot be fully answered in our present state of knowledge, but at least we can try to illustrate, with three case studies from different continents, time periods and ecosystems, some fundamental changes in the relationship between natural processes and human activities that occur, as we pass from a nature-dominated to a human dominated environment. 1. Early-mid Holocene: Nature dominated environment — human adaptation, mitigation, and migration. In the central Andes, the Holocene climate changed from humid (10,800-8000 BP) to extreme arid (8000-3600 BP) conditions. Over the same period, prehistoric hunting communities adopted a more sedentary pattern of resource use by settling close to the few perennial water bodies, where they began the process of domesticating camelids around 5000 BP and irrigation from about 3100 BP. 2. Historical period: An agrarian society in transition from an "enduring" to an innovative human response. Detailed documentary evidence from Western Europe may be used to reconstruct quite precisely the impacts of climatic variations on agrarian societies. The period considered spans a major transition from an apparently passive response to the vagaries of the environment during the 16th century to an active and innovative attitude from the onset of the agrarian revolution in the late 18th century through to the present day. The associated changes in technology and in agricultural practices helped to create a society better able to survive the impact of climatic extremes. 3. The present day: A human dominated
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A safety-based comparison of pure LigaSure use and LigaSure-tie technique in total thyroidectomy.
Pergel, A; Yucel, A Fikret; Aydin, I; Sahin, D A; Aras, S; Kulacoglu, H
2014-01-01
Sutureless total thyroidectomy by using vessel sealing devices has been shown to be safe in some recent clinical studies. However, some surgeons are still concerned about the use of these energy devices in the vicinity of there current laryngeal nerve and parathyroid glands. The objective of this study was to investigate the effects of the use of pure LigaSure on postoperative complications and to discuss the pertinent literature. A total of 456 patients having undergone a total thyroidectomy operation between June 2009 and March 2011 were included in the study. Data were prospectively collected and retrospectively evaluated. Patients were separated into 2 groups. Group L comprised of 182 patients where onlyLigaSure was used, and group LT consisted of 274 patients where ligation was used in the vicinity of the recurrent laryngeal nerve and parathyroid glands, and LigaSure was used in all other parts of the surgery. Patient's blood calcium values were checked preoperatively and at postoperative 24, 48, and 72 hours. Groups were assessed in terms of demographic properties, thyroid pathology, duration of operation, and postoperative complications. Groups were similar in respect of demographic properties, operation duration, thyroid gland pathology. No mortality rate was recorded. Laboratory hypocalcemia rate was higher in group L (P 0.003), but no significant difference was identified between groups in terms of symptomatic hypocalcemia.No permanent hypocalcemia or recurrent laryngeal nerve injury developed in any of the patients in the two groups. Pure LigaSure for total thyroidectomy may increase laboratory hypocalcemia rate, but not symptomatic hypocalcemia. Hemorrhage related complications were similar and low in the two groups. Ligations in the places close to delicate anatomic structures did not cause longer operative times and may be a safer option in total thyroidectomy. Celsius.
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Omerzel, Aleš
2014-01-01
The power domination problem is an optimization problem that has emerged together with the development of the power networks. It is important to control the voltage and current in all the nodes and links in a power network. Measuring devices are expensive, which is why there is a tendency to place a minimum number of devices in a power network so that the network remains fully supervised. The k-power domination is a generalization of the power domination. The thesis represents the rules of th...
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Authoritarianism, dominance and assertiveness.
Ray, J J
1981-08-01
It is shown that there are definitions of the three constructs of authoritarianism, dominance and assertiveness which read very similarly; so much so that no distinction is immediately evident. It is proposed that authoritarianism might be conceived as aggressive dominance and at least some types of assertiveness as nonaggressive dominance. A new scale of Dominance suitable for general population use was produced, and compared with the existing Ray (1976) behavior inventory of authoritarianism. Both scales showed highly significant correlations with peer rated dominance and submission (the latter being negative in sign) but only the authoritarianism scale showed significant correlations with rated aggressiveness and rigidity. It was concluded that the new definitions could be operationalized into valid scales.
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A novel CYP27B1 mutation causes a feline vitamin D-dependent rickets type IA.
Grahn, Robert A; Ellis, Melanie R; Grahn, Jennifer C; Lyons, Leslie A
2012-08-01
A 12-week-old domestic cat presented at a local veterinary clinic with hypocalcemia and skeletal abnormalities suggestive of rickets. Osteomalacia (rickets) is a disease caused by impaired bone mineralization leading to an increased prevalence of fractures and deformity. Described in a variety of species, rickets is most commonly caused by vitamin D or calcium deficiencies owing to both environmental and or genetic abnormalities. Vitamin D-dependent rickets type 1A (VDDR-1A) is a result of the enzymatic pathway defect caused by mutations in the 25-hydroxyvitamin D(3)-1-alpha-hydroxylase gene [cytochrome P27 B1 (CYP27B1)]. Calcitriol, the active form of vitamin D(3), regulates calcium homeostasis, which requires sufficient dietary calcium availability and correct hormonal function for proper bone growth and maintenance. Patient calcitriol concentrations were low while calcidiol levels were normal suggestive of VDDR-1A. The entire DNA coding sequencing of CYP27B1 was evaluated. The affected cat was wild type for previously identified VDDR-1A causative mutations. However, six novel mutations were identified, one of which was a nonsense mutation at G637T in exon 4. The exon 4 G637T nonsense mutation results in a premature protein truncation, changing a glutamic acid to a stop codon, E213X, likely causing the clinical presentation of rickets. The previously documented genetic mutation resulting in feline VDDR-1A rickets, as well as the case presented in this research, result from novel exon 4 CYP27B1 mutations, thus exon 4 should be the initial focus of future sequencing efforts.
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Autosomal dominant cutis laxa with progeroid features due to a novel, de novo mutation in ALDH18A1.
Bhola, Priya T; Hartley, Taila; Bareke, Eric; Boycott, Kym M; Nikkel, Sarah M; Dyment, David A
2017-06-01
De novo dominant mutations in the aldehyde dehydrogenase 18 family member A1 (ALDH18A1) gene have recently been shown to cause autosomal dominant cutis laxa with progeroid features (MIM 616603). To date, all de novo dominant mutations have been found in a single highly conserved amino acid residue at position p.Arg138. We report an 8-year-old male with a clinical diagnosis of autosomal dominant cutis laxa (ADCL) with progeroid features and a novel de novo missense mutation in ALDH18A1 (NM_002860.3: c.377G>A (p.Arg126His)). This is the first report of an individual with ALDH18A1-ADCL due to a substitution at a residue other than p.Arg138. Knowledge of the complete spectrum of dominant-acting mutations that cause this rare syndrome will have implications for molecular diagnosis and genetic counselling of these families.
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Borg, Van Der J.A.M.; Schilder, M.B.H.; Vinke, C.M.; Vries, De Han; Petit, Odile
2015-01-01
A dominance hierarchy is an important feature of the social organisation of group living animals. Although formal and/or agonistic dominance has been found in captive wolves and free-ranging dogs, applicability of the dominance concept in domestic dogs is highly debated, and quantitative data are
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Men's sex-dominance inhibition: do men automatically refrain from sexually dominant behavior?
Kiefer, Amy K; Sanchez, Diana T
2007-12-01
Men receive conflicting messages about their sexual roles in heterosexual relationships. Men are socialized to initiate and direct sexual activities with women; yet societal norms also proscribe the sexual domination and coercion of women. The authors test these competing hypotheses by assessing whether men inhibit the link between sex and dominance. In Studies 1a and b, using a subliminal priming procedure embedded in a lexical decision task, the authors demonstrate that men automatically suppress the concept of dominance following exposure to subliminal sex primes relative to neutral primes. In Studies 2 and 3, the authors show that men who are less likely to perceive sexual assertiveness as necessary, to refrain from dominant sexual behavior, and who do not invest in masculine gender ideals are more likely to inhibit dominant thoughts following sex primes. Implications for theories of automatic cognitive networks and gender-based sexual roles are discussed.
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DEFF Research Database (Denmark)
Finbow, Arthur; Frendrup, Allan; Vestergaard, Preben D.
cardinality then G is a total well dominated graph. In this paper we study composition and decomposition of total well dominated trees. By a reversible process we prove that any total well dominated tree can both be reduced to and constructed from a family of three small trees....
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Truncating SLC5A7 mutations underlie a spectrum of dominant hereditary motor neuropathies.
Salter, Claire G; Beijer, Danique; Hardy, Holly; Barwick, Katy E S; Bower, Matthew; Mademan, Ines; De Jonghe, Peter; Deconinck, Tine; Russell, Mark A; McEntagart, Meriel M; Chioza, Barry A; Blakely, Randy D; Chilton, John K; De Bleecker, Jan; Baets, Jonathan; Baple, Emma L; Walk, David; Crosby, Andrew H
2018-04-01
To identify the genetic cause of disease in 2 previously unreported families with forms of distal hereditary motor neuropathies (dHMNs). The first family comprises individuals affected by dHMN type V, which lacks the cardinal clinical feature of vocal cord paralysis characteristic of dHMN-VII observed in the second family. Next-generation sequencing was performed on the proband of each family. Variants were annotated and filtered, initially focusing on genes associated with neuropathy. Candidate variants were further investigated and confirmed by dideoxy sequence analysis and cosegregation studies. Thorough patient phenotyping was completed, comprising clinical history, examination, and neurologic investigation. dHMNs are a heterogeneous group of peripheral motor neuron disorders characterized by length-dependent neuropathy and progressive distal limb muscle weakness and wasting. We previously reported a dominant-negative frameshift mutation located in the concluding exon of the SLC5A7 gene encoding the choline transporter (CHT), leading to protein truncation, as the likely cause of dominantly-inherited dHMN-VII in an extended UK family. In this study, our genetic studies identified distinct heterozygous frameshift mutations located in the last coding exon of SLC5A7 , predicted to result in the truncation of the CHT C-terminus, as the likely cause of the condition in each family. This study corroborates C-terminal CHT truncation as a cause of autosomal dominant dHMN, confirming upper limb predominating over lower limb involvement, and broadening the clinical spectrum arising from CHT malfunction.
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Real or symbolic domination: New revision of La Domination masculine
Directory of Open Access Journals (Sweden)
Tassadit Yacine
2017-07-01
Full Text Available This paper does a rereading of Pierre Bourdieu’s Masculine Domination (1998, from the context in which it was developed. Thus, we rely on the work carried out during the 50s in Algeria (Sociologie de l'Algérie, 1958, Esquisse d'une théorie de la pratique, 1972 and Le Sens pratique, 1980 and later in France, to show that Masculine Domination was not born spontaneously, but as a result of a long decantation enriched by field experiences and the theoretical advances of the author’s concepts. If it is true that the situation of the women described in Sociologie de l'Algérie is the result of empirical research, it is less so for Masculine Domination, whose analysis retakes the concepts forged by the social anthropologist, such as habitus and symbolic domination. In this way, this article proposes a rereading of this work through the analysis of the work that preceded it in the field.
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Bioelectrochemical treatment of acid mine drainage dominated with iron
International Nuclear Information System (INIS)
Lefebvre, Olivier; Neculita, Carmen M.; Yue, Xiaodi; Ng, How Yong
2012-01-01
Highlights: ► Treatment of AMD dominated with Fe is problematic due to its low pH. ► The goal of AMD treatment is pH increasing and Fe controlled removal. ► An MFC could fulfill both these requirements by treating AMD at the aerated cathode. ► The performance was proportional to the charge transfer up to 880 C. ► The treated AMD met the discharge limits both for Fe (>99% recovery) and pH (7.9). - Abstract: Treatment of acid mine drainage (AMD) dominated with iron (Fe), the most common metal, is a long-term expensive commitment, the goal of which is to increase the pH and remove Fe. In the present study, a proton exchange membrane microbial fuel cell (MFC) showed promise for the efficient treatment of an AMD dominated with ferric iron (pH 2.4 ± 0.1; 500 mg L −1 Fe 3+ ). Briefly, Fe 3+ was reduced to Fe 2+ at the cathode of the MFC, followed by Fe 2+ re-oxidation and precipitation as oxy(hydroxi)des. Oxygen reduction and cation transfer to the cathode of the MFC further caused a rise in pH. A linear relationship was observed between the charge transferred in the MFC and the performance of the system up to 880 C. Optimal conditions were found at a charge of 662 C, achieved within 7 d at an acetate concentration of 1.6 g L −1 in a membrane MFC. This caused the pH to rise to 7.9 and resulted in a Fe removal of 99%. Treated effluent met the pH discharge limits of 6.5–9. The maximum power generation achieved under these conditions averaged 8.6 ± 2.3 W m −3 , which could help reduce the costs of full-scale bioelectrochemical treatment of AMD dominated with Fe.
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Crossed Aphasia in a Patient with Anaplastic Astrocytoma of the Non-Dominant Hemisphere.
Prater, Stephanie; Anand, Neil; Wei, Lawrence; Horner, Neil
2017-09-01
Aphasia describes a spectrum of speech impairments due to damage in the language centers of the brain. Insult to the inferior frontal gyrus of the dominant cerebral hemisphere results in Broca's aphasia - the inability to produce fluent speech. The left cerebral hemisphere has historically been considered the dominant side, a characteristic long presumed to be related to a person's "handedness". However, recent studies utilizing fMRI have shown that right hemispheric dominance occurs more frequently than previously proposed and despite a person's handedness. Here we present a case of a right-handed patient with Broca's aphasia caused by a right-sided brain tumor. This is significant not only because the occurrence of aphasia in right-handed-individuals with right hemispheric brain damage (so-called "crossed aphasia") is unusual but also because such findings support dissociation between hemispheric linguistic dominance and handedness.
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Clinical and Radiological Findings of Autosomal Dominant Osteopetrosis Type II: A Case Report
Directory of Open Access Journals (Sweden)
Priyanka Kant
2013-01-01
Full Text Available Osteopetrosis is a rare inherited genetic disease characterized by sclerosis of the skeleton caused by the absence or malfunction of osteoclasts. Three distinct forms of the disease have been recognized, autosomal dominant osteopetrosis being the most common. Autosomal dominant osteopetrosis exhibits a heterogeneous trait with milder symptoms, often at later childhood or adulthood. The aim of this case report is to present the clinical and radiographic features of a 35-year-old female patient with autosomal dominant osteopetrosis type II who exhibited features of chronic generalised periodontitis, and the radiographs revealed generalised osteosclerosis and hallmark radiographic features of ADO type II, that is, “bone-within-bone appearance” and “Erlenmeyer-flask deformity.”
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Brazilian Credit Union Member Groups: Borrower-dominated, Saver-dominated or Neutral Behavior?
Directory of Open Access Journals (Sweden)
Valéria Gama Fully Bressan
2013-01-01
Full Text Available Theoretical models concerning Credit Unions (CUs suggest that the type of CU domination determines the way it allocates the monetary value it generates. A borrower- (saver- dominated CU benefits borrower (saver members at the expenses of saver (borrower members, and a neutral CU equally benefits its member groups.This paper applies direct measure of monetary benefits to each member group (Patin & McNiel, 1991a to testfor the existence of dominated behavior in Brazilian CUs, and is the first to apply panel data regressions to identify the determinants of CUs behavior. We use a unique panel data with 40,664 observations taken from 533 CUs affiliated with the largest Brazilian cooperative network. Results indicate Brazilian CUs are dominated by borrowers, but behave close to neutrality. Panel regression estimates show that common or multiple bond type,size and overdue loans of a CU have no effect on its behavior, the greater the total amount of loans over social capital and adjusted equity over total assets are the more likely a CU is borrower dominated, and the greater the age and current operational expenses over total asset of a CU are the more likely a CU is saver dominated.
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Perfect secure domination in graphs
Directory of Open Access Journals (Sweden)
S.V. Divya Rashmi
2017-07-01
Full Text Available Let $G=(V,E$ be a graph. A subset $S$ of $V$ is a dominating set of $G$ if every vertex in $Vsetminus S$ is adjacent to a vertex in $S.$ A dominating set $S$ is called a secure dominating set if for each $vin Vsetminus S$ there exists $uin S$ such that $v$ is adjacent to $u$ and $S_1=(Ssetminus{u}cup {v}$ is a dominating set. If further the vertex $uin S$ is unique, then $S$ is called a perfect secure dominating set. The minimum cardinality of a perfect secure dominating set of $G$ is called the perfect secure domination number of $G$ and is denoted by $gamma_{ps}(G.$ In this paper we initiate a study of this parameter and present several basic results.
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International Nuclear Information System (INIS)
Toneva, T.; Mlachkova, D.; Kaitazki, L.; Boneva, J.; Yordanova, S.
2015-01-01
The depicted case is of a 65 year old woman, who was admitted to hospital with complaints of excess sweating, dizziness and loss of consciousness. Symptomatic epilepsy was established after examination from a neurologist. A CT scan showed hyperdense symmetrical striation of the hemisphere of the small brain (parasagittal); symmetrical double-sided calcifications in the caudate nucleus, globus pallidus, thalamus and medial to the capsula interna; snake-like calcifications of the sulcus (occipital, parasagittai). Paraclinical tests have found hypocalcemia and hypoparathyroidism. Past illnesses: resection of the thyroid due to a nodose struma 20 years before. Key words: Calcifications in Basal Ganglia. Calcifications in the Cerebrum. Hypoparathyroidism
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In-frame mutations in exon 1 of SKI cause dominant Shprintzen-Goldberg syndrome.
Carmignac, Virginie; Thevenon, Julien; Adès, Lesley; Callewaert, Bert; Julia, Sophie; Thauvin-Robinet, Christel; Gueneau, Lucie; Courcet, Jean-Benoit; Lopez, Estelle; Holman, Katherine; Renard, Marjolijn; Plauchu, Henri; Plessis, Ghislaine; De Backer, Julie; Child, Anne; Arno, Gavin; Duplomb, Laurence; Callier, Patrick; Aral, Bernard; Vabres, Pierre; Gigot, Nadège; Arbustini, Eloisa; Grasso, Maurizia; Robinson, Peter N; Goizet, Cyril; Baumann, Clarisse; Di Rocco, Maja; Sanchez Del Pozo, Jaime; Huet, Frédéric; Jondeau, Guillaume; Collod-Beroud, Gwenaëlle; Beroud, Christophe; Amiel, Jeanne; Cormier-Daire, Valérie; Rivière, Jean-Baptiste; Boileau, Catherine; De Paepe, Anne; Faivre, Laurence
2012-11-02
Shprintzen-Goldberg syndrome (SGS) is characterized by severe marfanoid habitus, intellectual disability, camptodactyly, typical facial dysmorphism, and craniosynostosis. Using family-based exome sequencing, we identified a dominantly inherited heterozygous in-frame deletion in exon 1 of SKI. Direct sequencing of SKI further identified one overlapping heterozygous in-frame deletion and ten heterozygous missense mutations affecting recurrent residues in 18 of the 19 individuals screened for SGS; these individuals included one family affected by somatic mosaicism. All mutations were located in a restricted area of exon 1, within the R-SMAD binding domain of SKI. No mutation was found in a cohort of 11 individuals with other marfanoid-craniosynostosis phenotypes. The interaction between SKI and Smad2/3 and Smad 4 regulates TGF-β signaling, and the pattern of anomalies in Ski-deficient mice corresponds to the clinical manifestations of SGS. These findings define SGS as a member of the family of diseases associated with the TGF-β-signaling pathway. Copyright © 2012 The American Society of Human Genetics. Published by Elsevier Inc. All rights reserved.
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The socialization of dominance: peer group contextual effects on homophobic and dominance attitudes.
Poteat, V Paul; Espelage, Dorothy L; Green, Harold D
2007-06-01
Using the framework of social dominance theory, the current investigation tested for the contextual effects of adolescent peer groups on individuals' homophobic and social dominance attitudes. Results from multilevel models indicated that significant differences existed across peer groups on homophobic attitudes. In addition, these differences were accounted for on the basis of the hierarchy-enhancing or -attenuating climate of the group. A group socialization effect on individuals' social dominance attitudes over time was also observed. Furthermore, the social climate of the peer group moderated the stability of individuals' social dominance attitudes. Findings support the need to examine more proximal and informal group affiliations and earlier developmental periods in efforts to build more comprehensive theoretical models explaining when and how prejudiced and dominance attitudes are formed and the way in which they are perpetuated. (c) 2007 APA, all rights reserved.
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Reversed polarized delivery of an aquaporin-2 mutant causes dominant nephrogenic diabetes insipidus.
Kamsteeg, E.J.; Bichet, D.G.; Konings, I.B.M.; Nivet, H.; Lonergan, M.; Arthus, M.F.; Os, C.H. van; Deen, P.M.T.
2003-01-01
Vasopressin regulates body water conservation by redistributing aquaporin-2 (AQP2) water channels from intracellular vesicles to the apical surface of renal collecting ducts, resulting in water reabsorption from urine. Mutations in AQP2 cause autosomal nephrogenic diabetes insipidus (NDI), a disease
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Comparison of Scapular Position in Dominant and Non Dominant Sides of Healthy Adult\\'s Females
Directory of Open Access Journals (Sweden)
Afsoun Nodehi-Moghaddam
2008-01-01
Full Text Available Objective: The goal of this research was to compare normal scapular position (protraction, rotation and lateral scapular test on arm elevation between dominant and non dominant sides. Materials & Methods: Thirty healthy females (age=21.9 years, weight=53.37 kg, height =160.60 cm were chosen by non probability sampling and participated in this cross – sectional and comparative study. Scapular rest positions (protraction and Rotation were measured by use of Diveta method and scapular asymmetry was assessed by using lateral scapular slide test (Kibler test. Validity and reliability of measurement methods were assessed by determination of ICC and SEM and data were analyzed by use of paired T test. Results: The difference between dominant and non dominant scapular protraction and rotation was not found to be statistically significant (P=0.61, P=0.57.The dominant scapula was found to be more lateral in 2nd and 3rd Kibler tests positions than non dominant scapula (P<0.001. There was no significant difference in lateral scapular slide test between dominant and non dominant sides when the arms were by the side of body (P=0.66. Conclusion: Scapular rest position is influenced by hand dominance
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Tetany: quantitative interrelationships between calcium and alkalosis.
Edmondson, J W; Brashear, R E; Li, T K
1975-04-01
Tetany occurs with hypocalcemia and alkalosis or both. The interrelationship of calcium and acid-base balance necessary for inducing tetany, the role of the central nervous system, and the rate of development of hypocalcemia have been investigated. Tetany occurred in less than 50 percent of one group of dogs made alkalotic by hyperventilation or made hypocalcemic by infusion of ethylene glycol-bis(beta-amino ethyl ether) N, N'-tetraacetate. In contrast, hypocalcemia combined with hypocapnic alkalosis always produced tetany. Slowly evolving hypocalcemia was achieved inanother group of dogs by thyroparathyroidectomy, and tetany was induced postoperatively by hypocapnic alkalosis. An identical relationship between serum calcium ion concentration and arterial pH or CO2 tension was found in both groups. Tetany could not be related to the cerebrospinal fluid (CSF) calcium ion content in either group. Hypocalcemia and alkalosis are therefore coparticipants in the development of tetany and are independent of the rate of development of hypocalcemia and of CSF calcium ion concentration. The importance of alkalosis in tetany with hypoparathyroidism is emphasized.
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Elitism and Stochastic Dominance
Bazen, Stephen; Moyes, Patrick
2011-01-01
Stochastic dominance has typically been used with a special emphasis on risk and inequality reduction something captured by the concavity of the utility function in the expected utility model. We claim that the applicability of the stochastic dominance approach goes far beyond risk and inequality measurement provided suitable adpations be made. We apply in the paper the stochastic dominance approach to the measurment of elitism which may be considered the opposite of egalitarianism. While the...
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Macmorran, E; Harch, S; Athan, E; Lane, S; Tong, S; Crawford, L; Krishnaswamy, S; Hewagama, S
2017-10-01
This study aimed to examine the epidemiology and treatment outcomes of community-onset purulent staphylococcal skin and soft tissue infections (SSTI) in Central Australia. We performed a prospective observational study of patients hospitalised with community-onset purulent staphylococcal SSTI (n = 160). Indigenous patients accounted for 78% of cases. Patients were predominantly young adults; however, there were high rates of co-morbid disease. Community-associated methicillin-resistant Staphylococcus aureus (CA-MRSA) was the dominant phenotype, accounting for 60% of cases. Hospitalisation during the preceding 6 months, and haemodialysis dependence were significant predictors of CA-MRSA infection on univariate analysis. Clinical presentation and treatment outcomes were found to be comparable for methicillin-susceptible S. aureus (MSSA) and methicillin-resistant cases. All MRSA isolates were characterised as non-multi-resistant, with this term used interchangeably with CA-MRSA in this analysis. We did not find an association between receipt of an active antimicrobial agent within the first 48 h, and progression of infection; need for further surgical debridement; unplanned General Practitioner or hospital re-presentation; or need for further antibiotics. At least one adverse outcome was experienced by 39% of patients. Clindamycin resistance was common, while rates of trimethoprim-sulfamethoxazole resistance were low. This study suggested the possibility of healthcare-associated transmission of CA-MRSA. This is the first Australian report of CA-MRSA superseding MSSA as the cause of community onset staphylococcal SSTI.
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International Nuclear Information System (INIS)
Gorodkov, S.
2009-01-01
Dominance ratio, or more precisely, its closeness to unity, is important characteristic of large reactor. It allows evaluate beforehand the number of source iterations required in deterministic calculations of power spatial distribution. Or the minimal number of histories to be modeled for achievement of statistical error level desired in large core Monte Carlo calculations. In this work relatively simple approach for dominance ratio evaluation is proposed. It essentially uses core symmetry. Dependence of dominance ratio on neutron flux spatial distribution is demonstrated. (author)
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International Nuclear Information System (INIS)
Gorodkov, S.S.
2009-01-01
Dominance ratio, or more precisely, its closeness to unity, is important characteristic of large reactor. It allows evaluate beforehand the number of source iterations required in deterministic calculations of power spatial distribution. Or the minimal number of histories to be modeled for achievement of statistical error level desired in large core Monte Carlo calculations. In this work relatively simple approach for dominance ratio evaluation is proposed. It essentially uses core symmetry. Dependence of dominance ratio on neutron flux spatial distribution is demonstrated. (Authors)
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Renormalisation group analysis of single right-handed neutrino dominance
International Nuclear Information System (INIS)
King, S.F.; Nimai Singh, N.
2000-01-01
We perform a renormalisation group (RG) analysis of neutrino masses and mixing angles in the see-saw mechanism in the minimal supersymmetric standard model with three right-handed neutrinos, including the effects of the heavy neutrino thresholds. We focus on the case that one of the right-handed neutrinos provides the dominant contribution to the 23 block of the light Majorana matrix, causing its determinant to approximately vanish and giving an automatic neutrino mass hierarchy, so-called single right-handed neutrino dominance which may arise from a U(1) family symmetry. In these models radiative corrections can increase atmospheric and solar neutrino mixing by up to about 10% and 5%, respectively, and may help to achieve bi-maximal mixing. Significantly we find that the radiative corrections over the heavy neutrino threshold region are at least as important as those usually considered from the lightest right-handed neutrino down to low energies
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Fischer-Zirnsak, Björn; Escande-Beillard, Nathalie; Ganesh, Jaya; Tan, Yu Xuan; Al Bughaili, Mohammed; Lin, Angela E; Sahai, Inderneel; Bahena, Paulina; Reichert, Sara L; Loh, Abigail; Wright, Graham D; Liu, Jaron; Rahikkala, Elisa; Pivnick, Eniko K; Choudhri, Asim F; Krüger, Ulrike; Zemojtel, Tomasz; van Ravenswaaij-Arts, Conny; Mostafavi, Roya; Stolte-Dijkstra, Irene; Symoens, Sofie; Pajunen, Leila; Al-Gazali, Lihadh; Meierhofer, David; Robinson, Peter N; Mundlos, Stefan; Villarroel, Camilo E; Byers, Peter; Masri, Amira; Robertson, Stephen P; Schwarze, Ulrike; Callewaert, Bert; Reversade, Bruno; Kornak, Uwe
2015-09-03
Progeroid disorders overlapping with De Barsy syndrome (DBS) are collectively denoted as autosomal-recessive cutis laxa type 3 (ARCL3). They are caused by biallelic mutations in PYCR1 or ALDH18A1, encoding pyrroline-5-carboxylate reductase 1 and pyrroline-5-carboxylate synthase (P5CS), respectively, which both operate in the mitochondrial proline cycle. We report here on eight unrelated individuals born to non-consanguineous families clinically diagnosed with DBS or wrinkly skin syndrome. We found three heterozygous mutations in ALDH18A1 leading to amino acid substitutions of the same highly conserved residue, Arg138 in P5CS. A de novo origin was confirmed in all six probands for whom parental DNA was available. Using fibroblasts from affected individuals and heterologous overexpression, we found that the P5CS-p.Arg138Trp protein was stable and able to interact with wild-type P5CS but showed an altered sub-mitochondrial distribution. A reduced size upon native gel electrophoresis indicated an alteration of the structure or composition of P5CS mutant complex. Furthermore, we found that the mutant cells had a reduced P5CS enzymatic activity leading to a delayed proline accumulation. In summary, recurrent de novo mutations, affecting the highly conserved residue Arg138 of P5CS, cause an autosomal-dominant form of cutis laxa with progeroid features. Our data provide insights into the etiology of cutis laxa diseases and will have immediate impact on diagnostics and genetic counseling. Copyright © 2015 The American Society of Human Genetics. Published by Elsevier Inc. All rights reserved.
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Coutelier, Marie; Blesneac, Iulia; Monteil, Arnaud; Monin, Marie-Lorraine; Ando, Kunie; Mundwiller, Emeline; Brusco, Alfredo; Le Ber, Isabelle; Anheim, Mathieu; Castrioto, Anna; Duyckaerts, Charles; Brice, Alexis; Durr, Alexandra; Lory, Philippe; Stevanin, Giovanni
2015-01-01
Hereditary cerebellar ataxias (CAs) are neurodegenerative disorders clinically characterized by a cerebellar syndrome, often accompanied by other neurological or non-neurological signs. All transmission modes have been described. In autosomal-dominant CA (ADCA), mutations in more than 30 genes are implicated, but the molecular diagnosis remains unknown in about 40% of cases. Implication of ion channels has long been an ongoing topic in the genetics of CA, and mutations in several channel genes have been recently connected to ADCA. In a large family affected by ADCA and mild pyramidal signs, we searched for the causative variant by combining linkage analysis and whole-exome sequencing. In CACNA1G, we identified a c.5144G>A mutation, causing an arginine-to-histidine (p.Arg1715His) change in the voltage sensor S4 segment of the T-type channel protein Cav3.1. Two out of 479 index subjects screened subsequently harbored the same mutation. We performed electrophysiological experiments in HEK293T cells to compare the properties of the p.Arg1715His and wild-type Cav3.1 channels. The current-voltage and the steady-state activation curves of the p.Arg1715His channel were shifted positively, whereas the inactivation curve had a higher slope factor. Computer modeling in deep cerebellar nuclei (DCN) neurons suggested that the mutation results in decreased neuronal excitability. Taken together, these data establish CACNA1G, which is highly expressed in the cerebellum, as a gene whose mutations can cause ADCA. This is consistent with the neuropathological examination, which showed severe Purkinje cell loss. Our study further extends our knowledge of the link between calcium channelopathies and CAs. PMID:26456284
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Richards, Anna; van den Maagdenberg, Arn M. J. M.; Jen, Joanna C.; Kavanagh, David; Bertram, Paula; Spitzer, Dirk; Liszewski, M. Kathryn; Barilla-LaBarca, Maria-Louise; Terwindt, Gisela M.; Kasai, Yumi; McLellan, Mike; Grand, Mark Gilbert; Vanmolkot, Kaate R. J.; de Vries, Boukje; Wan, Jijun; Kane, Michael J.; Mamsa, Hafsa; Schäfer, Ruth; Stam, Anine H.; Haan, Joost; de Jong, Paulus T. V. M.; Storimans, Caroline W.; van Schooneveld, Mary J.; Oosterhuis, Jendo A.; Gschwendter, Andreas; Dichgans, Martin; Kotschet, Katya E.; Hodgkinson, Suzanne; Hardy, Todd A.; Delatycki, Martin B.; Hajj-Ali, Rula A.; Kothari, Parul H.; Nelson, Stanley F.; Frants, Rune R.; Baloh, Robert W.; Ferrari, Michel D.; Atkinson, John P.
2007-01-01
Autosomal dominant retinal vasculopathy with cerebral leukodystrophy is a microvascular endotheliopathy with middle-age onset. In nine families, we identified heterozygous C-terminal frameshift mutations in TREX1, which encodes a 3'-5' exonuclease. These truncated proteins retain exonuclease
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Richards, Anna; van den Maagdenberg, Arn M. J. M.; Jen, Joanna C.; Kavanagh, David; Bertram, Paula; Spitzer, Dirk; Liszewski, M. Kathryn; Barilla-LaBarca, Maria-Louise; Terwindt, Gisela M.; Kasai, Yumi; McLellan, Mike; Grand, Mark Gilbert; Vanmolkot, Kaate R. J.; de Vries, Boukje; Wan, Jijun; Kane, Michael J.; Mamsa, Hafsa; Schaefer, Ruth; Stam, Anine H.; Haan, Joost; Paulus, T. V. M. de Jong; Storimans, Caroline W.; van Schooneveld, Mary J.; Oosterhuis, Jendo A.; Gschwendter, Andreas; Dichgans, Martin; Kotschet, Katya E.; Hodgkinson, Suzanne; Hardy, Todd A.; Delatycki, Martin B.; Hajj-Ali, Rula A.; Kothari, Parul H.; Nelson, Stanley F.; Frants, Rune R.; Baloh, Robert W.; Ferrari, Michel D.; Atkinson, John P.
Autosomal dominant retinal vasculopathy with cerebral leukodystrophy is a microvascular endotheliopathy with middle- age onset. In nine families, we identified heterozygous C- terminal frameshift mutations in TREX1, which encodes a 3'-5' exonuclease. These truncated proteins retain exonuclease
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Propionic acidemia as a cause of adult-onset dilated cardiomyopathy
Riemersma, M.; Hazebroek, M.R.; Helderman-van den Enden, A.T.; Salomons, G.S.; Ferdinandusse, S.; Brouwers, M.; Ploeg, L. van der; Heymans, S.; Glatz, J.F.C.; Wijngaard, A. van den; Krapels, I.P.C.; Bierau, J.; Brunner, H.G.
2017-01-01
Dilated cardiomyopathy (DCM) is extremely heterogeneous with a large proportion due to dominantly inherited disease-causing variants in sarcomeric genes. Recessive metabolic diseases may cause DCM, usually with onset in childhood, and in the context of systemic disease. Whether metabolic defects can
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Directory of Open Access Journals (Sweden)
Haynes Teresa W.
2014-08-01
Full Text Available A path π = (v1, v2, . . . , vk+1 in a graph G = (V,E is a downhill path if for every i, 1 ≤ i ≤ k, deg(vi ≥ deg(vi+1, where deg(vi denotes the degree of vertex vi ∈ V. The downhill domination number equals the minimum cardinality of a set S ⊆ V having the property that every vertex v ∈ V lies on a downhill path originating from some vertex in S. We investigate downhill domination numbers of graphs and give upper bounds. In particular, we show that the downhill domination number of a graph is at most half its order, and that the downhill domination number of a tree is at most one third its order. We characterize the graphs obtaining each of these bounds
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Price, A; Eccles, R
2017-10-01
Left- or right-handedness is a common human trait, and it has been previously reported that human nasal airflow dominance correlates with hand dominance. Any relationship between hand dominance and nasal airflow dominance would be unusual. This study aimed to measure nasal airflow and look for any relationship to handedness. The modified Glatzel mirror was used to record the dominant nasal passage at 15-minute intervals over a 6-hour period in 29 healthy participants consisting of 15 left-handers and 14 right-handers. In left-handers, the percentage of time that the left nasal passage was dominant ranged from 0 to 100 per cent. In right-handers, the percentage of time that the right nasal passage was dominant ranged from 4.2 to 95.8 per cent. No correlation between nasal airflow dominance and hand dominance was identified. The results do not support the hypothesis that nasal airflow and handedness are related.
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van Lith-Verhoeven, Janneke J. C.; van den Helm, Bellinda; Deutman, August F.; Bergen, Arthur A. B.; Cremers, Frans P. M.; Hoyng, Carel B.; de Jong, Paulus T. V. M.
2003-01-01
Objective: To describe the clinical and genetic findings in a family with a peculiar autosomal dominant macular dystrophy with peripheral deposits. Methods: All family members underwent an ophthalmic examination, and their genomic DNA was screened for mutations in the human retinal degeneration slow
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On The Roman Domination Stable Graphs
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Hajian Majid
2017-11-01
Full Text Available A Roman dominating function (or just RDF on a graph G = (V,E is a function f : V → {0, 1, 2} satisfying the condition that every vertex u for which f(u = 0 is adjacent to at least one vertex v for which f(v = 2. The weight of an RDF f is the value f(V (G = Pu2V (G f(u. The Roman domination number of a graph G, denoted by R(G, is the minimum weight of a Roman dominating function on G. A graph G is Roman domination stable if the Roman domination number of G remains unchanged under removal of any vertex. In this paper we present upper bounds for the Roman domination number in the class of Roman domination stable graphs, improving bounds posed in [V. Samodivkin, Roman domination in graphs: the class RUV R, Discrete Math. Algorithms Appl. 8 (2016 1650049].
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Directory of Open Access Journals (Sweden)
Ismail Sahul Hamid
2016-04-01
Full Text Available A set $S$ of vertices of a graph $G$ such that $\\left\\langle S\\right\\rangle$ has an isolated vertex is called an \\emph{isolate set} of $G$. The minimum and maximum cardinality of a maximal isolate set are called the \\emph{isolate number} $i_0(G$ and the \\emph{upper isolate number} $I_0(G$ respectively. An isolate set that is also a dominating set (an irredundant set is an $\\emph{isolate dominating set} \\ (\\emph{an isolate irredundant set}$. The \\emph{isolate domination number} $\\gamma_0(G$ and the \\emph{upper isolate domination number} $\\Gamma_0(G$ are respectively the minimum and maximum cardinality of a minimal isolate dominating set while the \\emph{isolate irredundance number} $ir_0(G$ and the \\emph{upper isolate irredundance number} $IR_0(G$ are the minimum and maximum cardinality of a maximal isolate irredundant set of $G$. The notion of isolate domination was introduced in \\cite{sb} and the remaining were introduced in \\cite{isrn}. This paper further extends a study of these parameters.
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Genomic deletions in OPA1 in Danish patients with autosomal dominant optic atrophy
DEFF Research Database (Denmark)
Almind, Gitte J; Grønskov, Karen; Milea, Dan
2011-01-01
Autosomal dominant optic atrophy (ADOA, Kjer disease, MIM #165500) is the most common form of hereditary optic neuropathy. Mutations in OPA1 located at chromosome 3q28 are the predominant cause for ADOA explaining between 32 and 89% of cases. Although deletions of OPA1 were recently reported...
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Genetic Dominance & Cellular Processes
Seager, Robert D.
2014-01-01
In learning genetics, many students misunderstand and misinterpret what "dominance" means. Understanding is easier if students realize that dominance is not a mechanism, but rather a consequence of underlying cellular processes. For example, metabolic pathways are often little affected by changes in enzyme concentration. This means that…
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A life-cycle model for wave-dominated tidal inlets along passive margin coasts of North America
Seminack, Christopher T.; McBride, Randolph A.
2018-03-01
A regional overview of 107 wave-dominated tidal inlets along the U.S. Atlantic coast, U.S. Gulf of Mexico coast, and Canadian Gulf of St. Lawrence coast yielded a generalized wave-dominated tidal inlet life-cycle model that recognized the rotational nature of tidal inlets. Tidal inlets are influenced by concurrently acting processes transpiring over two timescales: short-term, event-driven processes and long-term, evolutionary processes. Wave-dominated tidal inlets are classified into three rotational categories based on net longshore sediment transport direction and rotation direction along the landward (back-barrier) portion of the inlet channel: downdrift channel rotation, updrift channel rotation, or little-to-no channel rotation. Lateral shifting of the flood-tidal delta depocenter in response to available estuarine accommodation space appears to control inlet channel rotation. Flood-tidal delta deposits fill accommodation space locally within the estuary (i.e., creating bathymetric highs), causing the tidal-inlet channel to rotate. External influences, such as fluvial discharge, pre-existing back-barrier channels, and impeding salt marsh will also influence inlet-channel rotation. Storm events may rejuvenate the tidal inlet by scouring sediment within the flood-tidal delta, increasing local accommodation space. Wave-dominated tidal inlets are generally unstable and tend to open, concurrently migrate laterally and rotate, infill, and close. Channel rotation is a primary reason for wave-dominated tidal inlet closure. During rotation, the inlet channel lengthens and hydraulic efficiency decreases, thus causing tidal prism to decrease. Tidal prism, estuarine accommodation space, and sediment supply to the flood-tidal delta are the primary variables responsible for tidal inlet rotation. Stability of wave-dominated tidal inlets is further explained by: stability (S) = tidal prism (Ω) + estuarine accommodation space (V) - volume of annual sediment supply (Mt
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COMPARISON OF UNILATERAL SQUAT STRENGTH BETWEEN THE DOMINANT AND NON-DOMINANT LEG IN MEN AND WOMEN
Directory of Open Access Journals (Sweden)
Kevin McCurdy
2005-06-01
Full Text Available The purpose of this study was to compare unilateral squat strength of the dominant and non-dominant leg in young adult men and women. Seventeen apparently healthy men (mean mass 90.5 ± 20.9 kg and age 21.7 ± 1.8 yrs and 25 women (mean mass 62.2 ± 14.5 kg and age 21.9 ± 1.3 yrs completed the study. To determine unilateral strength, the subjects completed a one repetition maximum (1RM modified unilateral squat (MUS on the dominant and non-dominant leg. The subjects completed the squat to a depth that attained a 90º angle at the knee. This exercise was executed by placing the top of the metatarsophalangeal area of the foot of the uninvolved leg on a support bar behind the subject to isolate the use of the lead leg. Paired samples t-test revealed no significant difference between the men's 1RM mean strength on the dominant (107.0 ± 21.4 kg and non-dominant (106.0 ± 21.4 kg leg with a mean side-to-side difference (comparing the stronger to the weaker leg of 2.8 %. Leg strength symmetry was also found between the women's 1RM mean strength on the dominant (45.3 ± 12.5 kg and non-dominant (45.0 ± 12.4 kg leg with a mean side-to-side difference of 5.0 %. The data indicate that unilateral squat strength, measured in a weight bearing stance, is similar in the dominant and non-dominant leg in apparently healthy young adult men and women
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Neural mechanisms of social dominance
Watanabe, Noriya; Yamamoto, Miyuki
2015-01-01
In a group setting, individuals' perceptions of their own level of dominance or of the dominance level of others, and the ability to adequately control their behavior based on these perceptions are crucial for living within a social environment. Recent advances in neural imaging and molecular technology have enabled researchers to investigate the neural substrates that support the perception of social dominance and the formation of a social hierarchy in humans. At the systems' level, recent studies showed that dominance perception is represented in broad brain regions which include the amygdala, hippocampus, striatum, and various cortical networks such as the prefrontal, and parietal cortices. Additionally, neurotransmitter systems such as the dopaminergic and serotonergic systems, modulate and are modulated by the formation of the social hierarchy in a group. While these monoamine systems have a wide distribution and multiple functions, it was recently found that the Neuropeptide B/W contributes to the perception of dominance and is present in neurons that have a limited projection primarily to the amygdala. The present review discusses the specific roles of these neural regions and neurotransmitter systems in the perception of dominance and in hierarchy formation. PMID:26136644
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Neural mechanisms of social dominance
Directory of Open Access Journals (Sweden)
Noriya eWatanabe
2015-06-01
Full Text Available In a group setting, individuals’ perceptions of their own level of dominance or of the dominance level of others, and the ability to adequately control their behavior based on these perceptions are crucial for living within a social environment. Recent advances in neural imaging and molecular technology have enabled researchers to investigate the neural substrates that support the perception of social dominance and the formation of a social hierarchy in humans. At the systems’ level, recent studies showed that dominance perception is represented in broad brain regions which include the amygdala, hippocampus, striatum, and various cortical networks such as the prefrontal, and parietal cortices. Additionally, neurotransmitter systems such as the dopaminergic and serotonergic systems, modulate and are modulated by the formation of the social hierarchy in a group. While these monoamine systems have a wide distribution and multiple functions, it was recently found that the Neuropeptide B/W contributes to the perception of dominance and is present in neurons that have a limited projection primarily to the amygdala. The present review discusses the specific roles of these neural regions and neurotransmitter systems in the perception of dominance and in hierarchy formation.
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... levels of calcium are low. Calcium is a salt that is important to many systems in the body, especially heart and muscle function. Prolonged low calcium levels can result in poor bone formation, which may result in brittle bones that are ...
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CORONARY ARTERY DOMINANCE PATTERN IN EAST-GODAVARI DISTRICT: A CADAVERIC STUDY
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Arindom
2016-01-01
Full Text Available With the advent of coronary angiography, coronary artery diseases can be well combated; but with time sedentary life style and stress as our constant partner have kept coronary artery disease as one of the major causes of death. Revascularization procedures demand a sound knowledge of the course of coronary arteries and their branches, both normal and their quite common variations. In this regard, posterior inter-ventricular artery (PIVA deserves a special importance; PIVA determines the coronary dominance depending on its parent artery. Dominance can be right, left or of balanced type. Balanced type means that PIVA is derived from both right & left coronary arteries. Circulation can occur when both the coronary arteries emit a branch in that area. These and other variations form a very important repertoire of information based on which coronary bypass surgery and angioplasty can be safely and effectively performed. The aim of this study therefore is to document the coronary dominance pattern in this East Godavari district of Andhra-Pradesh. 60 adult human hearts were collected from museum of Anatomy department during the tenure of 5 years (2009 to 2014 and were preserved in 10% formalin. The hearts were dissected carefully to observe the posterior inter-ventricular artery in the posterior inter-ventricular sulcus of each heart and dominance pattern was recorded. In our present study right dominance type was the commonest (46 out of 60 followed by left dominance (10 out of 60. Only 4 out of 60 were of the balanced type. Present study, though not of the only member of its kind will definitely add up to the already existing vast knowledge, based on which various diagnostic and therapeutic intervention of coronary artery diseases can be done effectively and safely
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On the domination and signed domination numbers of zero-divisor graph
Directory of Open Access Journals (Sweden)
Ebrahim Vatandoost
2016-10-01
Full Text Available Let $R$ be a commutative ring (with 1 and let $Z(R$ be its set of zero-divisors. The zero-divisor graph $\\Gamma(R$ has vertex set $Z^*(R=Z(R \\setminus \\lbrace0 \\rbrace$ and for distinct $x,y \\in Z^*(R$, the vertices $x$ and $y$ are adjacent if and only if $xy=0$. In this paper, we consider the domination number and signed domination number on zero-divisor graph $\\Gamma(R$ of commutative ring $R$ such that for every $0 \
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Lifestyle dominates cardiovascular risks in Malaysia
Directory of Open Access Journals (Sweden)
Khalib A. Latiff
2008-03-01
Full Text Available Cardiovascular problem is one of the leading cause of death in Malaysia and now invaded to the sub-urban and rural areas. To prevent and control of this problem, several main risk factors needed to be known and shall be reexamined and ranked according to the priority. The objectives of this research paper was to identify several dominant risk factor related to cardiovascular problem. A cross sectional study was carried out from March 2000 – June 2001 on a total of 8159 rural population aged 18 and above to measure the prevalence of the common cardiovascular risk factors. Those risk factors are systolic blood pressure, diastolic blood pressure, serum cholesterol level, obesity index, blood glucose level, smoking, physical activity and mental stress. Overall prevalence of common cardiovascular risk factors were higher, dominated by physical inactivity (65.7%, hypercholesterolemia – TC:HC (62.3%, mental stress (55.5% and obesity (53.7%. Smoking was also high at 49.9% especially among men. However systolic hypertension, diastolic hypertension and diabetes mellitus; although increased by age, its prevalence is relatively low at 23.7%, 19.2%, and 6.3% respectively. Cardiovascular risk factors related to lifestyle are much evidenced as compared to risk factors related to the biological influence. Therefore, all initiatives in community health intervention should be mobilized specifically on prevention and control of lifestyle-related risk factors. (Med J Indones 2008; 17: 50-6Keywords: cardiovascular problem, community intervention, lifestyle-linked risk factors
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Mother knows best: dominant females determine offspring dispersal in red foxes (Vulpes vulpes.
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Helen M Whiteside
Full Text Available Relatedness between group members is central to understanding the causes of animal dispersal. In many group-living mammals this can be complicated as extra-pair copulations result in offspring having varying levels of relatedness to the dominant animals, leading to a potential conflict between male and female dominants over offspring dispersal strategies. To avoid resource competition and inbreeding, dominant males might be expected to evict unrelated males and related females, whereas the reverse strategy would be expected for dominant females.We used microsatellites and long-term data from an urban fox (Vulpes vulpes population to compare dispersal strategies between offspring with intra- and extra-group fathers and mothers of differing social status in red foxes. Relatedness to the dominant male had no effect on dispersal in offspring of either sex, whereas there was a strong effect of relatedness to resident females on offspring dispersal independent of population density. Males with dominant mothers dispersed significantly more often than males with subordinate mothers, whereas dispersing females were significantly more likely to have subordinate mothers compared to philopatric females.This is the first study to demonstrate that relatedness to resident females is important in juvenile dispersal in group-living mammals. Male dispersal may be driven by inbreeding avoidance, whereas female dispersal appears to be influenced by the fitness advantages associated with residing with the same-sex dominant parent. Selection pressure for paternal influence on offspring dispersal is low due to the limited costs associated with retaining unrelated males and the need for alternative inbreeding avoidance mechanisms between the dominant male and his female offspring. These findings have important implications for the evolution of dispersal and group living in social mammals, and our understanding of a key biological process.
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Mother knows best: dominant females determine offspring dispersal in red foxes (Vulpes vulpes).
Whiteside, Helen M; Dawson, Deborah A; Soulsbury, Carl D; Harris, Stephen
2011-01-01
Relatedness between group members is central to understanding the causes of animal dispersal. In many group-living mammals this can be complicated as extra-pair copulations result in offspring having varying levels of relatedness to the dominant animals, leading to a potential conflict between male and female dominants over offspring dispersal strategies. To avoid resource competition and inbreeding, dominant males might be expected to evict unrelated males and related females, whereas the reverse strategy would be expected for dominant females. We used microsatellites and long-term data from an urban fox (Vulpes vulpes) population to compare dispersal strategies between offspring with intra- and extra-group fathers and mothers of differing social status in red foxes. Relatedness to the dominant male had no effect on dispersal in offspring of either sex, whereas there was a strong effect of relatedness to resident females on offspring dispersal independent of population density. Males with dominant mothers dispersed significantly more often than males with subordinate mothers, whereas dispersing females were significantly more likely to have subordinate mothers compared to philopatric females. This is the first study to demonstrate that relatedness to resident females is important in juvenile dispersal in group-living mammals. Male dispersal may be driven by inbreeding avoidance, whereas female dispersal appears to be influenced by the fitness advantages associated with residing with the same-sex dominant parent. Selection pressure for paternal influence on offspring dispersal is low due to the limited costs associated with retaining unrelated males and the need for alternative inbreeding avoidance mechanisms between the dominant male and his female offspring. These findings have important implications for the evolution of dispersal and group living in social mammals, and our understanding of a key biological process.
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Harris, Emily Ann; Thai, Michael; Barlow, Fiona Kate
2017-01-01
The present study examined the effects of reading submission- and dominance-themed erotica on attitudes toward women and rape, ideal partner preferences, and subjective sexual arousal. Heterosexual male (n = 241) and female (n = 240) participants read one of three erotic stories depicting male dominance, female dominance, or no dominance, or a fourth nonerotic control story. First, we found that after reading about a sexually dominant man, women reported increased benevolent sexism compared to men, and men reported increased rape myth acceptance compared to women. Second, men and women showed a similar level of preference for partner dominance after reading about a sexually dominant woman. This was in contrast to the typical pattern revealed in all other conditions, whereby women were more likely to favor dominant partners relative to men. Finally, we found no evidence to support the hypothesis that the story describing male dominance would be the most arousing. Rather, all three erotic stories were equally sexually arousing compared to the control condition, and men and women did not differ in the extent to which the erotic stories aroused them. Theoretical and practical implications are discussed.
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DEFF Research Database (Denmark)
Jensen, Anders A.; Spalding, T A; Burstein, E S
2000-01-01
The calcium-sensing receptor (CaR) belongs to family C of the G-protein-coupled receptor superfamily. To date 14 activating mutations in CaR showing increased sensitivity to Ca(2+) have been identified in humans with autosomal dominant hypocalcemia. Four of these activating mutations are found......, suppressed the elevated basal response of the constitutively activated Ca/1a mutants demonstrating inverse agonist activity of CPCCOEt. Taken together, our results demonstrate that the Ala(116)-Pro(136) region is of key importance for the maintenance of the inactive conformation of CaR....
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A Boundary Property for Upper Domination
AbouEisha, Hassan M.; Hussain, Shahid; Lozin, Vadim; Monnot, Jé rô me; Ries, Bernard; Zamaraev, Viktor
2016-01-01
An upper dominating set in a graph is a minimal (with respect to set inclusion) dominating set of maximum cardinality.The problem of finding an upper dominating set is generally NP-hard, but can be solved in polynomial time in some restricted graph
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How Should We Respond to Non-Dominant Healing Practices, the Example of Homeopathy.
Gray, Ben
2017-03-01
The debate around the ethics of homeopathy in recent issues of the journal has been approached as a binary question; is homeopathy ethical or not? This paper suggests that this is an unhelpful question and instead discusses a framework to establish the extent to which the dominant (medical) culture should tolerate non-dominant health practices such as homeopathy. This requires a sophisticated understanding of the placebo effect, a critical evaluation of what evidence is available, a consideration of the harm that the non-dominant practice might cause, and a consideration of how this might be affected by the culture of the patient. This is presented as a matter of cultural competence. At a clinical level clinicians need to respect the values and beliefs of their patients and communicate with all the practitioners involved in a patient's care. At a societal level there are a number of factors to be considered when a community decides which practices to tolerate and to what extent.
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Price volatility in wind dominant electricity markets
DEFF Research Database (Denmark)
Farashbashi-Astaneh, Seyed-Mostafa; Chen, Zhe
2013-01-01
High penetration of intermittent renewable energy sources causes price volatility in future electricity markets. This is specially the case in European countries that plan high penetration levels. This highlights the necessity for revising market regulations and mechanisms in accordance...... to generation combination portfolio. Proposed solutions should be able to tackle with emerging challenges which are mainly due to high variability and unpredictability of intermittent renewable resources. In this paper high price volatility will be introduced as an emerging challenge in wind dominant...... electricity markets. High price volatility is unappreciated because it imposes high financial risk levels to both electricity consumers and producers. Additionally high price variations impede tracking price signals by consumers in future smart grid and jeopardize implementation of demand response concepts...
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Flow Patterns in an Open Channel Confluence with Increasingly Dominant Tributary Inflow
Directory of Open Access Journals (Sweden)
Laurent Schindfessel
2015-08-01
Full Text Available Despite the ratio of incoming discharges being recognized as a key parameter in open-channel confluence hydrodynamics, little is known about the flow patterns when the tributary provides more than 90% of the total discharge. This paper offers a systematic study of flow features when the tributary becomes increasingly dominant in a 90° confluence with a fixed concordant bed. Large-eddy simulations are used to investigate the three-dimensional complex flow patterns for three different discharge ratios. It is found that the tributary flow impinges on the opposing bank when the tributary flow becomes sufficiently dominant, causing a recirculating eddy in the upstream channel of the confluence, which induces significant changes in the incoming velocity distribution. Moreover, it results in stronger helicoidal cells in the downstream channel, along with zones of upwelling flow. In turn, the changed flow patterns also influence the mixing layer and the flow recovery. Finally, intermittent events of stronger upwelling flow are discerned. Improved understanding of flow patterns at confluences where the tributary is dominant is applicable to both engineering and earth sciences.
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Semi-strong split domination in graphs
Directory of Open Access Journals (Sweden)
Anwar Alwardi
2014-06-01
Full Text Available Given a graph $G = (V,E$, a dominating set $D subseteq V$ is called a semi-strong split dominating set of $G$ if $|V setminus D| geq 1$ and the maximum degree of the subgraph induced by $V setminus D$ is 1. The minimum cardinality of a semi-strong split dominating set (SSSDS of G is the semi-strong split domination number of G, denoted $gamma_{sss}(G$. In this work, we introduce the concept and prove several results regarding it.
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Energy Technology Data Exchange (ETDEWEB)
Tonacchera, M.; Van Sande, J.; Cetani, F. [Universite Libre de Bruxelles, Brussels (Belgium)] [and others
1996-02-01
We report three unrelated families in which hyperthyroidism associated with thyroid hyperplasia was transmitted in an autosomal dominant fashion, in the absence of signs of autoimmunity. Exon 10 of the TSH receptor gene was directly sequenced after PCR amplification from DNA of peripheral leukocytes. In one family, a C to A transversion resulted in an S505R substitution in the third transmembrane segment; in the second, an A to T transversion caused an N650Y substitution in the sixth transmembrane segment; and in the third family, an A to G transition resulted in an N670S substitution in the seventh transmembrane segment. When expressed by transfection in COS-7 cells, each mutated receptor displayed an increase in constitutive stimulation of cAMP production; no effect on basal accumulation of inositol phosphates (IP) could be detected. In binding studies, cells transfected with wild-type of mutated receptors showed similar levels of expression, with the mutated receptors displaying similar or slightly increased affinity for bovine TSH (bTSH) binding. Cells transfected with S505R and N650Y mutants showed a similar cAMP maximal TSH-stimulated accumulation over the cells transfected with the wild type, whereas N670S transfectants showed a blunted response with an increase in EC{sub 50}. A higher IP response to 100 mU/mL bTSH over that obtained with the wild-type receptor was obtained in cells transfected with N650Y; in contrast, cells transfected with S505R showed a blunted IP production (50% less), and the N670S mutant completely lost the ability to stimulate IP accumulation in response to bTSH. The differential effects of individual mutations on stimulation by bTSH of cAMP or IP accumulation suggest that individual mutant receptors may achieve different active conformations with selective abilities to couple to G{sub s}{alpha} and to G{sub q}{alpha}. 17 refs., 8 figs.
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Exogenous Testosterone Rapidly Increases Aggressive Behavior in Dominant and Impulsive Men.
Carré, Justin M; Geniole, Shawn N; Ortiz, Triana L; Bird, Brian M; Videto, Amber; Bonin, Pierre L
2017-08-15
Although traditional wisdom suggests that baseline levels of testosterone (T) promote aggressive behavior, decades of research have produced findings that have been largely weak and inconsistent. However, more recent experimental work suggests that exogenous administration of T rapidly potentiates amygdala and hypothalamus responses to angry facial expressions. Notably, these brain regions are rich in androgen receptors and play a key role in modulating aggressive behavior in animal models. The present experiment extends this work by examining whether acutely increasing T potentiates aggressive behavior in men. In a double-blind, placebo-controlled, between-subject design, healthy adult men (n = 121) were administered either T or placebo, and subsequently engaged in a well-validated decision-making game that measures aggressive behavior in response to social provocation. In light of prior correlational research, we also assessed the extent to which T's effects on aggressive behavior would depend on variability in trait dominance and/or trait self-control. Exogenous T on its own did not modulate aggressive behavior. However, T's effects on aggression were strongly influenced by variation in trait dominance and trait self-control. Specifically, T caused an increase in aggressive behavior, but only among men scoring relatively high in trait dominance or low in trait self-control. These findings are the first to demonstrate that T can rapidly (within 60 minutes) potentiate aggressive behavior, but only among men with dominant or impulsive personality styles. Copyright © 2016 Society of Biological Psychiatry. Published by Elsevier Inc. All rights reserved.
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Directory of Open Access Journals (Sweden)
Pascal Duenk
2017-10-01
Full Text Available In quantitative genetics, the average effect at a single locus can be estimated by an additive (A model, or an additive plus dominance (AD model. In the presence of dominance, the AD-model is expected to be more accurate, because the A-model falsely assumes that residuals are independent and identically distributed. Our objective was to investigate the accuracy of an estimated average effect (α^ in the presence of dominance, using either a single locus A-model or AD-model. Estimation was based on a finite sample from a large population in Hardy-Weinberg equilibrium (HWE, and the root mean squared error of α^ was calculated for several broad-sense heritabilities, sample sizes, and sizes of the dominance effect. Results show that with the A-model, both sampling deviations of genotype frequencies from HWE frequencies and sampling deviations of allele frequencies contributed to the error. With the AD-model, only sampling deviations of allele frequencies contributed to the error, provided that all three genotype classes were sampled. In the presence of dominance, the root mean squared error of α^ with the AD-model was always smaller than with the A-model, even when the heritability was less than one. Remarkably, in the absence of dominance, there was no disadvantage of fitting dominance. In conclusion, the AD-model yields more accurate estimates of average effects from a finite sample, because it is more robust against sampling deviations from HWE frequencies than the A-model. Genetic models that include dominance, therefore, yield higher accuracies of estimated average effects than purely additive models when dominance is present.
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Domination of the Golden Horde in Wallachia and Moldavia
Directory of Open Access Journals (Sweden)
Victor Spinei
2016-12-01
Full Text Available Research objective: to explore the characteristics and effects of the period of the Golden Horde domination in Wallachia and Moldavia. Research materials: The impact of the Great Mongol Invasion of 1241–1242 on the Romanian regions was particularly deep, causing massive economic and political disruptions that inter alia resulted in the inclusion of wide territories outside the Carpathian arch into the Golden Horde State for more than a century. Naturally, this historical sequence raised a major interest in historiography, being the subject of numerous studies and monographs. Moreover, monographic volumes and various other studies that synthetically treat the events related to the Mongol conquests in Eastern and Central Europe also illustrate aspects regarding the Carpato-Danubian lands. The conclusions made by the historians interested in the above topics were mainly based, until several decades ago, on the information resulting from the Western and Eastern narrative and diplomatic sources. During the years that followed World War II, while progress was being registered in the field of medieval archaeology, numerous vestiges dated to the period of the Mongol expansion were brought to light, thus substantially enriching the topics related to the contacts between the autochthones and the invaders. In the current phase of research, comprehensive investigations regarding the history of the Romanians and the Mongols of the thirteenth–fourteenth centuries cannot be undertaken without a thorough parallel examination of the written and archaeological sources. Research results and novelty: As everywhere in the invaded countries, the Mongol intrusion into the regions inhabited by the Romanians caused large damage demographically, economically and politically. Important goods were destroyed or plundered, causing disturbances within the economic life, particularly in the field of commercial exchanges. The capturing of the local inhabitants’ wide
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On domination multisubdivision number of unicyclic graphs
Directory of Open Access Journals (Sweden)
Joanna Raczek
2018-01-01
Full Text Available The paper continues the interesting study of the domination subdivision number and the domination multisubdivision number. On the basis of the constructive characterization of the trees with the domination subdivision number equal to 3 given in [H. Aram, S.M. Sheikholeslami, O. Favaron, Domination subdivision number of trees, Discrete Math. 309 (2009, 622-628], we constructively characterize all connected unicyclic graphs with the domination multisubdivision number equal to 3. We end with further questions and open problems.
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Ellabib, M S; Agaj, M; Khalifa, Z; Kavanagh, K
2002-06-01
The reported frequency of recovery of fungi from infected nails varies according to the geographical area. To establish the nature of the causal agents in a sample of the Libyan population presenting with suspected onychomycosis. Samples were taken from the infected fingernails of 648 patients attending the Tripoli Medical Centre. Samples from 500 patients proved positive for fungi following culturing, while 476 were potassium hydroxide and culture positive. Of the culture-positive samples, yeasts of the genus Candida (C. albicans, C. parapsilosis, C. glabrata, C. guillermondii and C. tropicalis) were the dominant cause of this condition in women (417 of 434, 96%) but were responsible for only a minority of cases in men (three of 66, 5%). In contrast, dermatophytes (Trichophyton violaceum, T. rubrum, T. mentagrophytes and Microsporum canis) were responsible for this condition in the majority of cases in men (53 of 66, 80%) but only 3% (15 of 434) of cases in women. The mould Aspergillus nidulans was isolated from the nails of 10 (15%) men and two (0.5%) women. The data obtained in this study reveal an almost total separation of the aetiological agents responsible for onychomycosis based on gender.
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Autosomal dominant spastic paraplegia with peripheral neuropathy maps to chr12q23-24.
Schüle, R; Bonin, M; Dürr, A; Forlani, S; Sperfeld, A D; Klimpe, S; Mueller, J C; Seibel, A; van de Warrenburg, B P; Bauer, P; Schöls, L
2009-06-02
Hereditary spastic paraplegias (HSP) are genetically exceedingly heterogeneous. To date, 37 genetic loci for HSP have been described (SPG1-41), among them 16 loci for autosomal dominant disease. Notwithstanding, further genetic heterogeneity is to be expected in HSP, as various HSP families do not link to any of the known HSP loci. In this study, we aimed to map the disease locus in a German family segregating autosomal dominant complicated HSP. A genome-wide linkage analysis was performed using the GeneChip Mapping 10Kv2.0 Xba Array containing 10,204 SNP markers. Suggestive loci were further analyzed by mapping of microsatellite markers. One locus on chromosome 12q23-24, termed SPG36, was confirmed by high density microsatellite fine mapping with a significant LOD score of 3.2. SPG36 is flanked by markers D12S318 and D12S79. Linkage to SPG36 was excluded in >20 additional autosomal dominant HSP families. Candidate genes were selected and sequenced. No disease-causing mutations were identified in the coding regions of ATXN2, HSPB8, IFT81, Myo1H, UBE3B, and VPS29. SPG36 is complicated by a sensory and motor neuropathy; it is therefore the eighth autosomal dominant subtype of complicated HSP. We report mapping of a new locus for autosomal dominant hereditary spastic paraplegia (HSP) (SPG36) on chromosome 12q23-24 in a German family with autosomal dominant HSP complicated by peripheral neuropathy.
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Rice, Gillian; Newman, William G.; Dean, John; Patrick, Teresa; Parmar, Rekha; Flintoff, Kim; Robins, Peter; Harvey, Scott; Hollis, Thomas; O’Hara, Ann; Herrick, Ariane L.; Bowden, Andrew P.; Perrino, Fred W.; Lindahl, Tomas; Barnes, Deborah E.; Crow, Yanick J.
2007-01-01
TREX1 constitutes the major 3′→5′ DNA exonuclease activity measured in mammalian cells. Recently, biallelic mutations in TREX1 have been shown to cause Aicardi-Goutières syndrome at the AGS1 locus. Interestingly, Aicardi-Goutières syndrome shows overlap with systemic lupus erythematosus at both clinical and pathological levels. Here, we report a heterozygous TREX1 mutation causing familial chilblain lupus. Additionally, we describe a de novo heterozygous mutation, affecting a critical catalytic residue in TREX1, that results in typical Aicardi-Goutières syndrome. PMID:17357087
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Domination criticality in product graphs
Directory of Open Access Journals (Sweden)
M.R. Chithra
2015-07-01
Full Text Available A connected dominating set is an important notion and has many applications in routing and management of networks. Graph products have turned out to be a good model of interconnection networks. This motivated us to study the Cartesian product of graphs G with connected domination number, γc(G=2,3 and characterize such graphs. Also, we characterize the k−γ-vertex (edge critical graphs and k−γc-vertex (edge critical graphs for k=2,3 where γ denotes the domination number of G. We also discuss the vertex criticality in grids.
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Herrera Valdés, Raúl; Orantes, Carlos M; Almaguer López, Miguel; López Marín, Laura; Arévalo, Pedro Alfonso; Smith González, Magaly J; Morales, Fabrizio E; Bacallao, Raymed; Bayarre, Héctor D; Vela Parada, Xavier F
2015-01-01
A chronic kidney disease of non-traditional causes (CKDu) has emerged in Central America and elsewhere, predominantly affecting male farmworkers. In El Salvador (2009), it was the second cause of death in men > 18 years old. Causality has not been determined. Most available research focused on men and there is scarce data on women. Describe the clinical and histopathologic characteristics of CKDu in women of agricultural communities in El Salvador. A descriptive study was carried out in 10 women with CKDu stages 2, 3a, and 3b. Researchers studied demographics, clinical examination; hematological and biochemical analyses, urine sediment, renal injury markers, and assessed renal, cardiac, and peripheral arteries, liver, pancreas, and lung anatomy and functions. Kidney biopsy was performed in all. Data was collected on the Lime Survey platform and exported to SPSS 19.0. Patient distribution by stages: 2 (70%), 3a (10%), 3b (20%). Occupation: agricultural 7; non-agricultural 3. agrochemical exposure 100%; farmworkers 70%; incidental malaria 50%, NSAIDs use 40%; hypertension 40%. nocturia 50%; dysuria 50%; arthralgia 70%; asthenia 50%; cramps 30%, profuse sweating 20%. Renal markers: albumin creatinine ratio (ACR) > 300 mg/g 90%; β microglobulin and neutrophil gelatinase- associated lipocalin (NGAL) presence in 40%. Kidney function: hypermagnesuria 100%; hyperphosphaturia 50%, hypercalciuria 40%; hypernatriuria 30%; hyponatremia 60%, hypocalcemia 50%. Doppler: tibial artery damage 40%. Neurological: reflex abnormalities 30%; Babinski and myoclonus 20%. Neurosensorial hypoacusis 70%. Histopathology: damage restricted mostly to the tubulo-interstitium, urine was essentially bland. CKDu in women is a chronic tubulointerstitial nephropathy with varied extrarenal symptoms.
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DEFF Research Database (Denmark)
Granild-Jensen, Jakob Bie; Jensen, Uffe Birk; Schwartz, Marianne
2009-01-01
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is caused by mutations in the Notch3 gene on chromosome 19. The condition manifests itself clinically typically in the third to fifth decade with migraine and recurrent episodes of stroke or trans......Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is caused by mutations in the Notch3 gene on chromosome 19. The condition manifests itself clinically typically in the third to fifth decade with migraine and recurrent episodes of stroke...... or transient ischaemic attacks. We report the case of an 11-year-old male with CADASIL resulting in stroke with right hemiparesis and dysphasia. Acute magnetic resonance imaging suggested infarction in the left hemisphere; magnetic resonance angiography revealed calibre variation of the intracerebral arteries...... of CADASIL, with an autosomal dominant pattern. The diagnosis of CADASIL was confirmed by the finding of the known mutation of the Notch3 gene running in the family. With treatment in a neurorehabilitation centre the patient recovered most of his functions with only discrete fine-motor and cognitive sequelae...
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Directory of Open Access Journals (Sweden)
Jane eLudvigsen
2016-02-01
Full Text Available The combined effect of environment and diet in shaping the gut microbiota remain largely unknown. This knowledge, however, is important for animal welfare and safe food production. For these reasons we determined the effect of experimental units on the chicken caecum microbiota for a full factorial experiment where we tested the combined effect of room, diet and antimicrobial treatment. By Illumina Deep sequencing of the 16S rRNA gene, we found that diet mainly affected the dominant microbiota, while the room as a proxy for environment had major effects on the non-dominant microbiota (p=0.006, Kruskal Wallis test. We therefore propose that the dominant and non-dominant microbiotas are shaped by different experimental units. These findings have implications both for our general understanding of the host-associated microbiota, and for setting up experiments related to specific targeting of pathogens.
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Effects of gastrin on calcium homeostasis in chickens
International Nuclear Information System (INIS)
Persson, P.; Gagnemo-Persson, R.; Orberg, J.; Chen, D.; Hakanson, R.
1991-01-01
As in the rat, gastrin and an extract of the acid-producing part of the stomach (proventriculus) were found to lower the blood Ca2+ concentration in the chicken. Furthermore, gastrin enhanced the uptake of 45Ca into the femur. It has been suggested previously that gastrin causes hypocalcemia in the rat by releasing gastrocalcin, a hypothetical hormone thought to reside in the acid-producing part of the stomach. The results of the present study in the chicken are in agreement with this concept. Not only exogenous, but also endogenous gastrin lowered blood calcium levels. Thus, the serum gastrin concentration was increased in response to ranitidine-evoked blockade of the gastric acid output; the rise in gastrin was associated with a transient drop in blood calcium. Also, food intake produced a rise in the serum gastrin concentration and a transient drop in blood calcium. However, injection of ranitidine or food intake in proventriclectomized (acid-producing part of the stomach extirpated) chickens failed to lower blood calcium, supporting the view that the gastrin-evoked hypocalcemia depends upon an agent in the gastric (proventriculus) mucosa. The authors suggest that endogenous and exogenous gastrin evoke hypocalcemia in the chicken by the same mechanism as that which has been postulated in the rat, i.e. by mobilization of the candidate hormone gastrocalcin from endocrine cells in the acid-producing gastric mucosa
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Hand dominance in orthopaedic surgeons.
LENUS (Irish Health Repository)
Lui, Darren F
2012-08-01
Handedness is perhaps the most studied human asymmetry. Laterality is the preference shown for one side and it has been studied in many aspects of medicine. Studies have shown that some orthopaedic procedures had poorer outcomes and identified laterality as a contributing factor. We developed a questionnaire to assess laterality in orthopaedic surgery and compared this to an established scoring system. Sixty-two orthopaedic surgeons surveyed with the validated Waterloo Handedness Questionnaire (WHQ) were compared with the self developed Orthopaedic Handedness Questionnaire (OHQ). Fifty-eight were found to be right hand dominant (RHD) and 4 left hand dominant (LHD). In RHD surgeons, the average WHQ score was 44.9% and OHQ 15%. For LHD surgeons the WHQ score was 30.2% and OHQ 9.4%. This represents a significant amount of time using the non dominant hand but does not necessarily determine satisfactory or successful dexterity transferable to the operating room. Training may be required for the non dominant side.
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Ben-Shachar, S.; Khajavi, M.; Withers, M.A.; Shaw, C.A.; Bokhoven, J.H.L.M. van; Brunner, H.G.; Lupski, J.R.
2009-01-01
Mutations in ROR2, encoding a receptor tyrosine kinase, can cause autosomal recessive Robinow syndrome (RRS), a severe skeletal dysplasia with limb shortening, brachydactyly, and a dysmorphic facial appearance. Other mutations in ROR2 result in the autosomal dominant disease, brachydactyly type B
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Grift, B. van der; Broers, H.P.; Berendrecht, W.; Rozemeijer, J.; Osté, L.; Griffioen, J.
2016-01-01
Many agriculture-dominated lowland water systems worldwide suffer from eutrophication caused by high nutrient loads. Insight in the hydrochemical functioning of embanked polder catchments is highly relevant for improving the water quality in such areas or for reducing export loads to downstream
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Urgesi, Cosimo; Bricolo, Emanuela; Aglioti, Salvatore M
2005-08-01
Cerebral dominance and hemispheric metacontrol were investigated by testing the ability of healthy participants to match chimeric, entire, or half faces presented tachistoscopically. The two hemi-faces compounding chimeric or entire stimuli were presented simultaneously or asynchronously at different exposure times. Participants did not consciously detect chimeric faces for simultaneous presentations lasting up to 40 ms. Interestingly, a 20 ms separation between each half-chimera was sufficient to induce detection of conflicts at a conscious level. Although the presence of chimeric faces was not consciously perceived, performance on chimeric faces was poorer than on entire- and half-faces stimuli, thus indicating an implicit processing of perceptual conflicts. Moreover, the precedence of hemispheric stimulation over-ruled the right hemisphere dominance for face processing, insofar as the hemisphere stimulated last appeared to influence the response. This dynamic reversal of cerebral dominance, however, was not caused by a shift in hemispheric specialization, since the level of performance always reflected the right hemisphere specialization for face recognition. Thus, the dissociation between hemispheric dominance and specialization found in the present study hints at the existence of hemispheric metacontrol in healthy individuals.
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Consumers, health insurance and dominated choices.
Sinaiko, Anna D; Hirth, Richard A
2011-03-01
We analyze employee health plan choices when the choice set offered by their employer includes a dominated plan. During our study period, one-third of workers were enrolled in the dominated plan. Some may have selected the plan before it was dominated and then failed to switch out of it. However, a substantial number actively chose the dominated plan when they had an unambiguously better choice. These results suggest limitations in the ability of health reform based solely on consumer choice to achieve efficient outcomes and that implementation of health reform should anticipate, monitor and account for this consumer behavior. Copyright © 2011 Elsevier B.V. All rights reserved.
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On dominator colorings in graphs
Indian Academy of Sciences (India)
colors required for a dominator coloring of G is called the dominator .... Theorem 1.3 shows that the complete graph Kn is the only connected graph of order n ... Conversely, if a graph G satisfies condition (i) or (ii), it is easy to see that χd(G) =.
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Coordination failure caused by sunspots
DEFF Research Database (Denmark)
Beugnot, Julie; Gürgüç, Zeynep; Øvlisen, Frederik Roose
2012-01-01
on the efficient equilibrium, we consider sunspots as a potential reason for coordination failure. We conduct an experiment with a three player 2x2x2 game in which coordination on the efficient equilibrium is easy and should normally occur. In the control session, we find almost perfect coordination on the payoff......-dominant equilibrium, but in the sunspot treatment, dis-coordination is frequent. Sunspots lead to significant inefficiency, and we conclude that sunspots can indeed cause coordination failure....
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Dominance Hierarchies in Young Children
Edelman, Murray S.; Omark, Donald R.
1973-01-01
This study uses the ethological approach of seeking species characteristics and phylogenetic continuities in an investigation of human behavior. Among primates a striking consistency is the presence of some form of dominance hierarchy in many species. The present study examines peer group dominance hierarchies as they are perceived by children in…
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Familial gigantism caused by an NSD1 mutation.
Haelst, M.M. van; Hoogeboom, J.J.; Baujat, G.; Bruggenwirth, H.T.; Laar, I. van de; Coleman, K.; Rahman, N.; Niermeijer, M.F.; Drop, S.L.; Scambler, P.J.
2005-01-01
A three-generation family with autosomal dominant segregation of a novel NSD1 mutation (6605G --> A, resulting in Cys2202Tyr) is reported. Haploinsufficiency of NSD1 has been identified as the major cause of Sotos syndrome. The overgrowth condition (MIM 117550) is characterized by facial anomalies,
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Frontotemporal dementia caused by CHMP2B mutations
DEFF Research Database (Denmark)
Isaacs, A M; Johannsen, P; Holm, I
2011-01-01
CHMP2B mutations are a rare cause of autosomal dominant frontotemporal dementia (FTD). The best studied example is frontotemporal dementia linked to chromosome 3 (FTD-3) which occurs in a large Danish family, with a further CHMP2B mutation identified in an unrelated Belgian familial FTD patient. ...
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Parental mosaicism is a pitfall in preimplantation genetic diagnosis of dominant disorders.
Steffann, Julie; Michot, Caroline; Borghese, Roxana; Baptista-Fernandes, Marcia; Monnot, Sophie; Bonnefont, Jean-Paul; Munnich, Arnold
2014-05-01
PCR amplification on single cells is prone to allele drop-out (PCR failure of one allele), a cause of misdiagnosis in preimplantation genetic diagnosis (PGD). Owing to this error risk, PGD usually relies on both direct and indirect genetic analyses. When the affected partner is the sporadic case of a dominant disorder, building haplotypes require spermatozoon or polar body testing prior to PGD, but these procedures are cost and time-consuming. A couple requested PGD because the male partner suffered from a dominant Cowden syndrome (CS). He was a sporadic case, but the couple had a first unaffected child and the non-mutated paternal haplotype was tentatively deduced. The couple had a second spontaneous pregnancy and the fetus was found to carry the at-risk haplotype but not the PTEN mutation. The mutation was present in blood from the affected father, but at low level, confirming the somatic mosaicism. Ignoring the possibility of mosaicism in the CS patient would have potentially led to selection of affected embryos. This observation emphasizes the risk of PGD in families at risk to transmit autosomal-dominant disorder when the affected partner is a sporadic case.
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A Boundary Property for Upper Domination
AbouEisha, Hassan M.
2016-08-08
An upper dominating set in a graph is a minimal (with respect to set inclusion) dominating set of maximum cardinality.The problem of finding an upper dominating set is generally NP-hard, but can be solved in polynomial time in some restricted graph classes, such as P4-free graphs or 2K2-free graphs.For classes defined by finitely many forbidden induced subgraphs, the boundary separating difficult instances of the problem from polynomially solvable ones consists of the so called boundary classes.However, none of such classes has been identified so far for the upper dominating set problem.In the present paper, we discover the first boundary class for this problem.
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Directory of Open Access Journals (Sweden)
Elnaz Dizaji
2016-09-01
Full Text Available Objective: The aim of this study was to compare the plantar pressure distribution of dominant and non-dominant legs of females who were participated in the kata and kumite national team. Methods: Twelve kumite and 8 kata female athletes of the Karate national team participated in this study. Plantar pressure was measured using emed platform during barefoot walking. After dividing the foot into 10 masks, peak pressure, pressure-time integral, maximum force and force-time integral were calculated. Wilcoxon and U-Mann-Witney tests were used to analyze parameters at a significance level of p ≤ 0.05. Results: In comparison of kata and kumite teams it was found that, kata plantar pressure parameters in Metatarsal-2 (p=0.05 and Metatarsals-3, 4, 5 (p=0.04 were significantly less than those in kumite. Also, in comparison of dominant and non-dominant leg, plantar pressure parameters of dominant leg were less in Metatarsal-2 (p=0.04 and more in Bigtoe (p=0.04 and Toes-3, 4, 5 (p=0.03 than those in the non-dominant leg. Conclusion: Results may be indicative different of natures of the two athletic fields in that Kumite has a higher impact on plantar pressure due to higher mechanical loads. Furthermore, the unequal use of the legs may affect plantar pressure because of leg dominance. Thus, further and more comprehensive studies are necessary to prevent exercise-induced adaptations in professional levels and their treatments.
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Local biomass burning is a dominant cause of the observed precipitation reduction in southern Africa
Hodnebrog, Øivind; Myhre, Gunnar; Forster, Piers M.; Sillmann, Jana; Samset, Bjørn H.
2016-01-01
Observations indicate a precipitation decline over large parts of southern Africa since the 1950s. Concurrently, atmospheric concentrations of greenhouse gases and aerosols have increased due to anthropogenic activities. Here we show that local black carbon and organic carbon aerosol emissions from biomass burning activities are a main cause of the observed decline in southern African dry season precipitation over the last century. Near the main biomass burning regions, global and regional modelling indicates precipitation decreases of 20–30%, with large spatial variability. Increasing global CO2 concentrations further contribute to precipitation reductions, somewhat less in magnitude but covering a larger area. Whereas precipitation changes from increased CO2 are driven by large-scale circulation changes, the increase in biomass burning aerosols causes local drying of the atmosphere. This study illustrates that reducing local biomass burning aerosol emissions may be a useful way to mitigate reduced rainfall in the region. PMID:27068129
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Hypothalamic digoxin, hemispheric chemical dominance, and eating behavior.
Kurup, Ravi Kumar; Kurup, Parameswara Achutha
2003-08-01
The isoprenoid pathway produces an endogenous membrane Na+-K+ ATPase inhibitor, digoxin, which can regulate neurotransmitter and amino acid transport. Digoxin synthesis and neurotransmitter patterns were assessed in eating disorders. The patterns were compared in those with right hemispheric and left hemispheric dominance. The serum HMG CoA reductase activity, RBC membrane Na+-K+ ATPase activity, serum digoxin, magnesium, tryptophan catabolites (serotonin, quinolinic acid, strychnine, and nicotine), and tyrosine catabolites (morphine, dopamine, and noradrenaline) were measured in anorexia nervosa, bulimia nervosa, right hemispheric dominant, left hemispheric dominant, and bihemispheric dominant individuals. Digoxin synthesis was increased with upregulated tryptophan catabolism and downregulated tyrosine catabolism in those with anorexia nervosa and right hemispheric chemical dominance. Digoxin synthesis was reduced with downregulated tryptophan catabolism and upregulated tyrosine catabolism in those with bulimia nervosa and left hemispheric chemical dominance. The membrane Na+-K+ ATPase activity and serum magnesium were decreased in anorexia nervosa and right hemispheric chemical dominance while they were increased in bulimia nervosa and left hemispheric chemical dominance. Hypothalamic digoxin and hemispheric chemical dominance play a central role in the regulation of eating behavior. Anorexia nervosa represents the right hemispheric chemically dominant/hyperdigoxinemic state and bulimia nervosa the left hemispheric chemically dominant/hypodigoxinemic state.
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Do axes of rotation change during fast and slow motions of the dominant and non-dominate arms?
Directory of Open Access Journals (Sweden)
Pagano Christopher
2011-12-01
Full Text Available The velocity-dependent change in rotational axes observed in the control of unconstrained 3D arm rotations for the dominant limb seems to conform to a minimum inertia resistance (MIR principle [4]. This is an efficient biomechanical solution that allows for the reduction of torques. We tested whether the MIR principle governs rotating movement when subjects were instructed to maintain the shoulder-elbow joint axis close to horizontal for both dominant and non dominant limbs. Subjects (n=12 performed externalinternal rotations of their arms in two angular positions (90° versus 150°, two angular velocities (slow (S versus fast (F, and in two sensory conditions (kinaesthetic (K versus visuo- kinaesthetic (VK. We expected more scattered displacements of the rotation axis employed for rotating the non dominant limb compared to the dominant limb. The results showed that the rotational axis of a multiarticulated limb coincided with SH-EL at S & F velocity for both arms.
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On a conjecture about inverse domination in graphs
DEFF Research Database (Denmark)
Frendrup, Allan; Henning, Michael A.; Randerath, Bert
Let G = (V,E) be a graph with no isolated vertex. A classical observation in domination theory is that if D is a minimum dominating set of G, then V \\D is also a dominating set of G. A set D′ is an inverse dominating set of G if D′ is a dominating set of G and D′ ⊆ V \\D for some minimum dominatin...
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Wildfires in northern Siberian larch dominated communities
International Nuclear Information System (INIS)
Kharuk, Viacheslav I; Dvinskaya, Maria L; Im, Sergey T; Ranson, Kenneth J
2011-01-01
The fire history of the northern larch forests within the permafrost zone in a portion of northern Siberia (∼66°N, 100°E) was studied. Since there is little to no human activity in this area, fires within the study area were mostly caused by lightning. Fire return intervals (FRI) were estimated on the basis of burn marks on tree stems and dates of tree natality. FRI values varied from 130 to 350 yr with a 200 ± 50 yr mean. For southerly larch dominated communities, FRI was found to be shorter (77 ± 20 yr at ∼ 61°N, and 82 ± 7 at 64°N), and it was longer at the northern boundary (∼71°) of larch stands (320 ± 50 yr). During the Little Ice Age period in the 16th–18th centuries, FRI was approximately twice as long those as recorded in this study. Fire caused changes in the soil including increases in soil drainage and permafrost thawing depth, and a radial growth increase to about twice the background value (with more than six times observed in extreme cases). This effect may simulate the predicted warming impact on the larch growth in the permafrost zone.
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International Nuclear Information System (INIS)
Ivantsov, V.I.
2003-01-01
The dominance of thermocicling treatments conditions on structure,electrical resistance,microplastic characteristics and behavior in the microdeformation area of beryllium was investigated. It is established, that TC causes considerable structural changes in beryllium at the upper thermocicling temperature exceeding 523 K. Attached to upper TC temperature less then 523 K it is observed hardening of metal, conditioned by processes of twining and relaxation of micro stresses in overstrained micro volumes. The temperature range of TC determinate the stage evolution of the flow and the deformation hardening at different stages defined by changes in the beryllium structure caused by processing
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A wide spectrum of fastidious and ampicillin-susceptible bacteria dominate in animal-caused wounds
Gustavsson, O.; Johansson, A. V.; Monstein, H.-J.; Nilsson, L. E.; Bredberg, A.
2016-01-01
The main purpose of this study was to assess the actual occurrence of Gram-negative oxidase-positive bacteria (GNOP) in human wounds caused by animals, mostly cat and dog bites and scratches, and with signs of infection. We report a prospective series of 92 wound samples. Routine culturing was combined with a procedure optimised for fastidious GNOP. All GNOP isolates were identified by 16S rDNA sequencing to the species level. We observed a more prominent role of GNOP, including at least 30 s...
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Directory of Open Access Journals (Sweden)
Paul Guéguen
Full Text Available Inherited thrombocytopenia is a heterogeneous group of disorders characterized by a reduced number of blood platelets. Despite the identification of nearly 20 causative genes in the past decade, approximately half of all subjects with inherited thrombocytopenia still remain unexplained in terms of the underlying pathogenic mechanisms. Here we report a six-generation French pedigree with an autosomal dominant mode of inheritance and the identification of its genetic basis. Of the 55 subjects available for analysis, 26 were diagnosed with isolated macrothrombocytopenia. Genome-wide linkage analysis mapped a 10.9 Mb locus to chromosome 14 (14q22 with a LOD score of 7.6. Candidate gene analysis complemented by targeted next-generation sequencing identified a missense mutation (c.137GA; p.Arg46Gln in the alpha-actinin 1 gene (ACTN1 that segregated with macrothrombocytopenia in this large pedigree. The missense mutation occurred within actin-binding domain of alpha-actinin 1, a functionally critical domain that crosslinks actin filaments into bundles. The evaluation of cultured mutation-harboring megakaryocytes by electron microscopy and the immunofluorescence examination of transfected COS-7 cells suggested that the mutation causes disorganization of the cellular cytoplasm. Our study concurred with a recently published whole-exome sequence analysis of six small Japanese families with congenital macrothrombocytopenia, adding ACTN1 to the growing list of thrombocytopenia genes.
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TSH elevations as the first laboratory evidence for pseudohypoparathyroidism type Ib (PHP-Ib)†
Molinaro, Angelo; Tiosano, Dov; Takatani, Rieko; Chrysis, Dionisios; Russell, William; Koscielniak, Nikolas; Kottler, Marie-Laure; Agretti, Patrizia; De Marco, Giuseppina; Ahtiainen, Petteri; Christov, Marta; Mäkitie, Outi; Tonacchera, Massimo; Jüppner, Harald
2015-01-01
Hypocalcemia and hyperphosphatemia because of resistance towards parathyroid hormone (PTH) in the proximal renal tubules are the most prominent abnormalities in patients affected by pseudohypoparathyroidism type Ib (PHP-Ib). In this rare disorder that is caused by GNAS methylation changes, resistance can occur towards other hormones, such as thyroid-stimulating hormone (TSH), that mediate their actions through G protein-coupled receptors. However, these additional laboratory abnormalities are...
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Directory of Open Access Journals (Sweden)
MÁRIO C. MARQUES
2011-06-01
Full Text Available Problem Statement: The aim of this study was to compare the ball velocity in different kicking conditions with dominant and non-dominant leg in junior soccer players.Approach: Sixteen junior soccer players (age 17.6±0.6yr, height 1.76±0.06m, and weight 67.9±5.2kg participated in this study. All participants kicked a soccer ball three times in seven conditions with the dominant and non-dominant leg. 1 Kicking the ball from 11m straight forwards, 2 and 3 kicking the ball from 11m to the left and right side of the goal, 4 and 5 kicking the ball straight forwards from 11m after a pass from the left and right side, 6 and 7 kicking the ball straight forwards from 11m after a pass that came from a diagonal position (45º from the left and right side. The highest ball velocity was used for analysis.Results: Significant differences were found in ball velocity between the dominant and non-dominant leg in all conditions (p<0.001. For the dominant leg also significant differences were found in the kicking of eleven meters (ideal conditions compared with: the perpendicular passing kick after the ball on the right (p=0.0024 and left (p=0.0080 and also with a diagonal kick after pass (45 ° of the ball on the right (p=0.0017 and left (p = 0.0381. Significant differences in the kicking with the non-dominant leg were found when kicking from eleven meters to the right side of the goal in comparison to: the kick under the same conditions, to the left side of the goal (p=0.0243 after pass and shot from the left side perpendicular (p=0.0222.Conclusions/Recommendations: kicking velocity is influenced very much under different conditions when kicking with the dominant leg while for the non-dominant leg this influence was small, because the non-dominant leg is less trained, so the values of velocity in different conditions, in addition to being the lowest, are closer than those obtained with the dominant leg
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Pathogenesis and potential therapy of autosomal dominant polycystic kidney disease
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O.O. Melnyk
2017-10-01
Full Text Available Autosomal dominant polycystic kidney disease (ADPKD is a hereditary disease characterized by progressive growth of the cyst and an increase in the total volume of the kidneys which leads to kidney failure. The main causes of ADPKD are mutations in the genes PKD1 and PKD2 which encode the formation of polycystin-1 and polycystin-2 proteins. There is a connection between structural and functional defects in the primary cilia with the ADPKD. The most promising drugs for the treatment of ADPKD today are vasopressin-2 receptor antagonists, m-TOR and c-AMP inhibitors.
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Directory of Open Access Journals (Sweden)
Maryam Soleimanpour
2016-12-01
Conclusion: Novice participants did Thenar Eminence (non-dominant hand - E-C (dominant hand technique better than the others. Therefore, it is recommended that training of this technique was placed in educational program of medical students.
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DEFF Research Database (Denmark)
Thilsing-Hansen, T; Jørgensen, R J; Enemark, J M D
2002-01-01
One potential way of preventing parturient hypocalcemia in the dairy cow is to feed dry cow rations very low in calcium (......One potential way of preventing parturient hypocalcemia in the dairy cow is to feed dry cow rations very low in calcium (...
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Directory of Open Access Journals (Sweden)
Chwen-Yi Yang
2005-12-01
Full Text Available Klinefelter's syndrome is rarely associated with hypocalcemia, especially pseudohypoparathyroidism (PHP type Ib. We describe a case of Klinefelter's syndrome associated with seizure, PHP type Ib and multiple endocrine dysfunctions. A 19-year-old Taiwanese male was admitted due to seizures with loss of consciousness. He had been diagnosed with Klinefelter's syndrome with seizure disorder and hypocalcemia 3 months previously. Physical examination revealed eunuchoidism but no osteodystrophy, while laboratory data revealed severe hypocalcemia, hyperphosphatemia, and elevated parathyroid hormone. Chromosomal study showed 47, XXY. Osteoporosis was found on chest and abdominal radiography. Dense calcification in the cerebrum and cerebellum was shown on brain computed tomography and magnetic resonance imaging. Elevation of the patient's serum calcium level was noted after vitamin D and calcium carbonate supplements were given. Klinefelter's syndrome is rarely associated with PHP type Ib; our patient's hypocalcemia improved after long-term aggressive treatment.
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Anna Piva
2014-03-01
Full Text Available A 59-year old woman was admitted for fatigue and arm paresthesias with Trousseau sign. Her medical history included thyroidectomy and hypercholesterolemia recently treated with simvastatin. Laboratory tests showed severe hypokalemia and hypocalcemia, severe increase in muscle enzymes, metabolic alkalosis; low plasma renin activity, increased thyroid-stimulating hormone, normal free thyroxine, increased parathyroid hormone, decreased vitamin D3; alterations in electrolyte urinary excretion, cortisol and aldosterone were excluded. Hypothesizing a statin-related myopathy, simvastatin was suspended; the patient reported use of laxatives containing licorice. Electrolytes normalized with intravenous supplementation. Among many biochemical alterations, none stands out as a major cause for muscular and electrolyte disorders. All co-factors are inter-connected, starting with statin-induced myopathy, worsened by hypothyroidism, secondary hyperaldosteronism and vitamin D deficiency, leading to hypocalcemia and hypokalemia, perpetrating muscular and electrolyte disorders. The importance of considering clinical conditions as a whole emerges with multiple co-factors involved. Another issue concerns herbal products and their potential dangerous effects.
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Grundmann, Hajo; Aanensen, David M; van den Wijngaard, Cees C; Spratt, Brian G; Harmsen, Dag; Friedrich, Alexander W; Tami, Adriana
Background: Staphylococcus aureus is one of the most important human pathogens and methicillin-resistant variants (MRSAs) are a major cause of hospital and community-acquired infection. We aimed to map the geographic distribution of the dominant clones that cause invasive infections in Europe.
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[Dominating motivation in systemic memory mechanisms].
Sudakov, K V
2005-01-01
The materials provided in the article support the key role of dominating motivation in the systemic processes of fixation and opening of memory mechanisms. The activating mechanisms of dominating motivations in the systemic architectonics of behavioural acts provide the basis for development of a multicomponent acceptor apparatus of an action outcomes broadly represented in various analysing brain sections. As result of enhancement of action outcomes on acceptors structures, molecular behaviour engrammes form within the functional systems. It is these molecular engrammes that are opened by dominating motivations in the same spatial-temporal sequence in which training takes place, and determine deliberate actions of animals. It was demonstrated that dominating motivation opens genetic information with an approximating-exploratory reaction under strong activation of early genes expression, in particular, of c-fos gene protein. Inherent motivation reactions are not blocked by inhibitors of proteins synthesis, by cycloheximide, in particular. In the process of training animals, i.e., satisfaction of the demands which are the basis of dominating motivations, expression of early genes in reduced, while expression of late genes is initiated. In this case, blockators of protein synthesis begin to produce strong inhibiting impact on behaviour of animals.
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Edge Cut Domination, Irredundance, and Independence in Graphs
Fenstermacher, Todd; Hedetniemi, Stephen; Laskar, Renu
2016-01-01
An edge dominating set $F$ of a graph $G=(V,E)$ is an \\textit{edge cut dominating set} if the subgraph $\\langle V,G-F \\rangle$ is disconnected. The \\textit{edge cut domination number} $\\gamma_{ct}(G)$ of $G$ is the minimum cardinality of an edge cut dominating set of $G.$ In this paper we study the edge cut domination number and investigate its relationships with other parameters of graphs. We also introduce the properties edge cut irredundance and edge cut independence.
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Helmia Farida
2015-09-01
Conclusions: Viruses and Gram-negative bacilli are dominant causes of CAP in this region, more so than S. pneumoniae. Most of the bacteria have wild type susceptibility to antimicrobial agents. Patients with severe disease and those with unknown etiology have a higher mortality risk.
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International Nuclear Information System (INIS)
Matthews, Jonathan; Schipper, Aafke M.; Hendriks, A. Jan; Yen Le, T.T.; Vaate, Abraham bij de; Velde, Gerard van der; Leuven, Rob S.E.W.
2015-01-01
Bioinvasions are a major cause of biodiversity and ecosystem changes. The rapid range expansion of the invasive quagga mussel (Dreissena rostriformis bugensis) causing a dominance shift from zebra mussels (Dreissena polymorpha) to quagga mussels, may alter the risk of secondary poisoning to predators. Mussel samples were collected from various water bodies in the Netherlands, divided into size classes, and analysed for metal concentrations. Concentrations of nickel and copper in quagga mussels were significantly lower than in zebra mussels overall. In lakes, quagga mussels contained significantly higher concentrations of aluminium, iron and lead yet significantly lower concentrations of zinc66, cadmium111, copper, nickel, cobalt and molybdenum than zebra mussels. In the river water type quagga mussel soft tissues contained significantly lower concentrations of zinc66. Our results suggest that a dominance shift from zebra to quagga mussels may reduce metal exposure of predator species. - Highlights: • Invading quagga mussels often displace existing zebra mussels. • Interspecies difference in metal concentration may alter exposure of predators. • Zebra and quagga mussel soft tissue were analysed for metal concentrations. • Generally, quagga mussels contained lower concentrations of metals. • A dominance shift to quagga mussels may reduce metal exposure of predators. - A shift in dominance from zebra mussels to invading quagga mussels may reduce the transfer of metals to predator species
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Hypothalamic digoxin, hemispheric chemical dominance and sarcoidosis.
Ravi Kumar, A; Kurup, Parameswara Achutha
2004-06-01
The isoprenoid pathway produces three key metabolites: endogenous digoxin (membrane sodium-potassium ATPase inhibitor, immunomodulator and regulator of neurotransmitter/amino acid transport), dolichol (regulates N-glycosylation of proteins) and ubiquinone (free radical scavenger). The role of the isoprenoid pathway in the pathogenesis of sarcoidosis in relation to hemispheric dominance was studied. The isoprenoid pathway-related cascade was assessed in patients with systemic sarcoidosis with pulmonary involvement. The pathway was also assessed in patients with right hemispheric, left hemispheric and bihemispheric dominance for comparison to find out the role of hemispheric dominance in the pathogenesis of sarcoidosis. In patients with sarcoidosis there was elevated digoxin synthesis, increased dolichol and glycoconjugate levels and low ubiquinone and elevated free radical levels. There was also an increase in tryptophan catabolites and a reduction in tyrosine catabolites. There was an increase in the cholesterol:phospholipid ratio and a reduction in the glycoconjugate level of red blood cell (RBC) membrane in this group of patients. The same biochemical patterns were obtained in individuals with right hemispheric dominance. In individuals with left hemispheric dominance the patterns were reversed. Endogenous digoxin, by activating the calcineurin signal transduction pathway of T cells, can contribute to immune activation in sarcoidosis. An altered glycoconjugate metabolism can lead to the generation of endogenous self-glycoprotein antigens in the lung as well as other tissues. Increased free radical generation can also lead to immune activation. The role of a dysfunctional isoprenoid pathway and endogenous digoxin in the pathogenesis of sarcoidosis in relation to right hemispheric chemical dominance is discussed. All the patients with sarcoidosis were right-handed/left hemispheric dominant according to the dichotic listening test, but their biochemical patterns
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Hypothalamic digoxin, hemispheric chemical dominance, and creativity.
Kurup, Ravi Kumar; Kurup, Parameswara Achutha
2003-04-01
The human hypothalamus produces an endogenous membrane Na(+)-K+ ATPase inhibitor, digoxin, which regulates neuronal transmission. The digoxin status and neurotransmitter patterns were studied in creative and non-creative individuals, as well as in individuals with differing hemispheric dominance, in order to find out the role of cerebral dominance in this respect. The activity of HMG CoA reductase and serum levels of digoxin, magnesium, tryptophan catabolites, and tyrosine catabolites were measured in creative/non-creative individuals, and in individuals with differing hemispheric dominance. In creative individuals there was increased digoxin synthesis, decreased membrane Na(+)-K+ ATPase activity, increased tryptophan catabolites (serotonin, quinolinic acid, and nicotine), and decreased tyrosine catabolites (dopamine, noradrenaline, and morphine). The pattern in creative individuals correlated with right hemispheric dominance. In non-creative individuals there was decreased digoxin synthesis, increased membrane Na(+)-K+ ATPase activity, decreased tryptophan catabolites (serotonin, quinolinic acid, and nicotine), and increased tyrosine catabolites (dopamine, noradrenaline, and morphine). This pattern in non-creative individuals correlated with that obtained in left hemispheric chemical dominance. Hemispheric chemical dominance and hypothalamic digoxin could regulate the predisposition to creative tendency.
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Hypothalamic digoxin, hemispheric chemical dominance, and spirituality.
Kurup, Ravi Kumar; Kurup, Parameswara Achutha
2003-03-01
The isoprenoid pathway was assessed in atheistic and spiritually inclined individuals. The pathway was also assessed in individuals with differing hemispheric dominance to assess whether hemispheric dominance has a correlation with spiritual and atheistic tendency. HMG CoA reductase activity, serum digoxin, RBC membrane Na(+)-K+ ATPase activity, serum magnesium, and tyrosine/tryptophan catabolic patterns were assessed in spiritual/atheistic individuals and in those differing hemispheric dominance. In spiritually-inclined individuals, there was increased digoxin synthesis, decreased membrane Na(+)-K+ ATPase activity, increased tryptophan catabolites (serotonin, quinolinic acid, and nicotine), and decreased tyrosine catabolites (dopamine, noradrenaline, and morphine). The pattern in spiritually-inclined individuals correlated with right hemispheric chemical dominance. In atheistic individuals there was decreased digoxin synthesis, increased membrane Na(+)-K+ ATPase activity, decreased tryptophan catabolities (serotonin, quinolinic acid, and nicotine), and increased tyrosine catabolites (dopamine, noradrenaline, and morphine). This pattern in atheistic individuals correlated with that obtained in left hemispheric chemical dominance. Hemispheric chemical dominance and hypothalamic digoxin could regulate the predisposition to spirituality or atheism.
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Outer-2-independent domination in graphs
Indian Academy of Sciences (India)
independent dominating set of a graph is a set of vertices of such that every vertex of ()\\ has a neighbor in and the maximum vertex degree of the subgraph induced by ()\\ is at most one. The outer-2-independent domination ...
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Directory of Open Access Journals (Sweden)
Kljajić Dragana
2012-01-01
Full Text Available The aim of this study was to determine the functional relationship between dominant and non-dominant hand in the strength endurance motor task - hand grip, in the referent population of healthy and young persons. For the purpose of the research we have implemented the method of isometric dynamometry and standardized hand grip test. The study included 48 participants, 23 of them being of female and 25 of male gender. The analysis of variance (ANOVA was used to determine the difference between the sets of variables in the function of gender and functional dimorphism, while the Bonferroni criterion was applied to determine the differences between pairs of individual variables. The difference between the maximum hand grip of dominant and non-dominant hand in female participants amounted to 9.28%, and in male ones 7.39% in favor of the dominant hand. There is no statistically significant difference between nondominant and dominant hand regarding the force endurance time aspect at 30%, 50% and 80% out of the maximum hand grip level, as well as at the absolute and relative force impulse indicators as an endurance measure. The value of gender dimorphism in relation to the absolute indicators of force momentum at 30%, 50% and 80% out of the maximum hand grip level in female participants is 0.9714, 0.9145, 0.9301, and in male participants 0.9515, 0.8264 and 0.8606. The force momentum indicators value at 30%, 50% and 80% out of the maximum hand grip level in female participants is ImpF30%=21167.58±6923.67 Ns, ImpF50%=10846.94±3800.56 Ns and ImpF80%=5438.46±1993.12 Ns, and in male participants ImpF30%=17734.03±6881.92 Ns, ImpF50%=13903.61±3437.76 Ns and ImpF80%=5117.53±1894.78 Ns. The obtained results can be used as the criteria for further research in special education and rehabilitation, medical and professional rehabilitation.
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What causes the patterns of gypsy moth defoliation?
Clive G. Jones
1991-01-01
Gypsy moth defoliation is typically observed to occur on xeric ridge tops before more mesic, lowland forest, in oak-dominated habitats in the Northeast. In subsequent years defoliation may also occur in mesic forests. What causes this pattern of defoliation? Differences in the degree of defoliation may be due to differences in the density of gypsy moth populations in...
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Hand dominance in upper extremity musculoskeletal disorders.
Shiri, Rahman; Varonen, Helena; Heliövaara, Markku; Viikari-Juntura, Eira
2007-05-01
To investigate the role of hand dominance in common upper extremity musculoskeletal disorders (UEMSD) in a population study. The target population consisted of a representative sample of people aged 30 years or older residing in Finland during 2000-2001. Of the 7977 eligible subjects, 6254 (78.4%) were included in the study. The prevalence of UEMSD was as follows: rotator cuff tendinitis 3.8%, bicipital tendinitis 0.5%, lateral epicondylitis 1.1%, medial epicondylitis 0.3%, carpal tunnel syndrome (CTS) 3.8%, and surgery due to CTS 1.3%. CTS was 2.5 times as prevalent in women as men, whereas the other UEMSD were as common in both sexes. Rotator cuff and bicipital tendinitis and medial epicondylitis were more prevalent in the dominant arm only in women, whereas lateral epicondylitis was more prevalent in the dominant elbow in both sexes. The higher prevalence of rotator cuff and bicipital tendinitis in the dominant side persisted beyond working age. The prevalence of CTS did not differ by hand dominance. Dominant hand had been operated more frequently for CTS in women. Our findings show that UEMSD are more prevalent in the dominant than nondominant arm mainly in women. For shoulder tendinitis, the difference persists throughout adult age. Physical load factors may have long-lasting effects on the shoulder and they may play a greater role in women than men.
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Highly dominating, highly authoritarian personalities.
Altemeyer, Bob
2004-08-01
The author considered the small part of the population whose members score highly on both the Social Dominance Orientation scale and the Right-Wing Authoritarianism scale. Studies of these High SDO-High RWAs, culled from samples of nearly 4000 Canadian university students and over 2600 of their parents and reported in the present article, reveal that these dominating authoritarians are among the most prejudiced persons in society. Furthermore, they seem to combine the worst elements of each kind of personality, being power-hungry, unsupportive of equality, manipulative, and amoral, as social dominators are in general, while also being religiously ethnocentric and dogmatic, as right-wing authoritarians tend to be. The author suggested that, although they are small in number, such persons can have considerable impact on society because they are well-positioned to become the leaders of prejudiced right-wing political movements.
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Bilateral optic nerve swelling after thyroidectomy followed by a course of radioiodine therapy
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Ioyleva E.E.
2018-03-01
Full Text Available The most common cancer of the endocrine system is thyroid cancer, representing 1.0–1.5 % all newly diagnosed cases of cancer. According to the cancer society of Russia, the thyroid cancer in children is much rarer than in adults. Thyroid cancer in children and adolescents is characterized by an adverse clinical course and a high risk of developing metastases in the lymph nodes. The main method of treatment for pediatric thyroid cancer is total thyroidectomy with central neck lymph node dissection followed by radioactive iodine therapy. In foreign and domestic literature, complications of the organ of vision, namely, changes of the optic disc, after surgical treatment for thyroid cancer are poorly understood. The risk of transient hypocalcemia and hypothyroidism increases after thyroidectomy. In the literature, there are two reported cases of the optic nerve swelling combined with hypoparathyroidism and hypocalcemia. While hypocalcemia intracranial hypertension and swelling of the optic nerves are often recorded. In this article, the authors present their own clinical observation of a 13-year-old patient after thyroidectomy and radioactive iodine therapy with detailed analysis of the clinical data and study results. According to the survey of the patient, bilateral swelling of the optic disc was revealed, which could occur due to hypothyroid state. Objective: to identify the cause of the development of bilateral optic nerve swelling in a patient after thyroidectomy and treatment course with radioactive iodine.
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Multi-Dimensional Top-k Dominating Queries
DEFF Research Database (Denmark)
Yiu, Man Lung; Mamoulis, Nikos
2009-01-01
The top-k dominating query returns k data objects which dominate the highest number of objects in a dataset. This query is an important tool for decision support since it provides data analysts an intuitive way for finding significant objects. In addition, it combines the advantages of top......-k and skyline queries without sharing their disadvantages: (i) the output size can be controlled, (ii) no ranking functions need to be specified by users, and (iii) the result is independent of the scales at different dimensions. Despite their importance, top-k dominating queries have not received adequate...
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SOME CONSIDERATIONS ON ABUSE OF DOMINANT POSITION
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Ovidiu Maican
2007-12-01
Full Text Available Article 82 (formerly 86 EC contains four essential elements (an undertaking, a dominant position, an abuse of that position and the abuse must affect trade between member states. The term undertakings is subject to the same broad interpretation as that applied to article 81 (formerly 85 EC and covers the same activities, both public and private.The Community interest must be also taken into account. Although it is not clear precisely what this element of article 86 requires, it will clearly curtail the scope of the exception provided under this article. Although abusive behavior of undertakings in a dominant position is prohibited, it must be recalled that merely being in a strong position is not a problem in itself. It is necessary for major players in a market to be aware of their position because practices which would not fall foul of article 82 (formerly 86 EC, where an undertaking is not dominant, will do so where dominance is established. A refusal to deal by a non-dominant undertaking would not be an abuse within article 82 (formerly 86 EC, but it will be so where the undertaking is dominant.
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Domination, self-determination and circular organizing
Romme, A.G.L.
2002-01-01
The emergence of self-organizing forms of control, based on the idea of self-determination, have challenged traditional forms of control based on the concept of domination. As such, self-determination has been put forward as an alternative rather than as a complement to domination. This paper
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Autosomal dominant distal myopathy due to a novel ACTA1 mutation.
Liewluck, Teerin; Sorenson, Eric J; Walkiewicz, Magdalena A; Rumilla, Kandelaria M; Milone, Margherita
2017-08-01
Mutations in skeletal muscle α-actin 1-encoding gene (ACTA1) cause autosomal dominant or recessive myopathies with marked clinical and pathological heterogeneity. Patients typically develop generalized or limb-girdle pattern of weakness, but recently a family with scapuloperoneal myopathy was reported. We describe a father and 2 children with childhood-to-juvenile onset distal myopathy, carrying a novel dominant ACTA1 variant, c.757G>C (p.Gly253Arg). Father had delayed motor development and developed significant proximal weakness later in life; he was initially misdiagnosed as having spinal muscular atrophy based on electromyographic findings. His children had predominant anterior distal leg and finger extensor involvement. Nemaline rods were abundant on the daughter's biopsy, absent on the father's initial biopsy, and extremely rare on the father's subsequent biopsy a decade later. The father's second biopsy also showed myofibrillar pathology and rare fibers with actin filament aggregates. The present family expands the spectrum of actinopathy to include a distal myopathy. Copyright © 2017 Elsevier B.V. All rights reserved.
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Women's Rights, Human Rights, and Duties: From Domination to Partnership
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Lester R. Kurtz
2017-03-01
Full Text Available The idea of women's rights as human rights can facilitate our identifying the causes, consequences, and potential remedies for the current quagmire in which we find themselves, but it needs some reformulation. To the traditional understandings of human rights, I add four conceptual tools: (1 Mahatma Gandhi’s idea of the counterparts of rights and duties, (2 Eisler’s concept of partnership (as opposed to dominator societies, (3 Johan Galtung’s expansion of our conception of violence to include its structural and cultural forms, and, finally, (4 the literature on nonviolence as a path to mobilization and transformation that resists existing social structures and builds new ones.
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2008-02-01
acidosis and hypocalcemia are corrected. In addition, these guidelines recommend rFVIIa for patients with adequate concentrations of platelets, fibrinogen...1.00 Data on physiologic cause of death available for 51 of 53 deaths recorded. rFVIIa, recombinant activated factor VII; CNS, central nervous ... system ; MOF, multi-organ failure. Table 10 Comparison of Adverse Events Between Study Groups Variable rFVIIa N 75 rFVIIa N 49 p Value Bacteremia 12
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2010-01-01
respiratory alkalosis o Hypocalcemia o Hypokalemia o Hypernatremia Pregnancy Category C Side-effects/precautions: o Metabolic alkalosis may occur...altitude, HAPE is the most common cause of death from altitude illness. 2. Usually occurs above 8,000ft. Respiratory distress at high altitude is HAPE...they may depress respiratory drive and worsen high altitude illness. 6. Treat per Nausea and Vomiting Protocol 7. For signs or symptoms of either
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Clapham, Matthew E; Bottjer, David J
2007-08-07
The end-Permian mass extinction was the largest biotic crisis in the history of animal life, eliminating as many as 95% of all species and dramatically altering the ecological structure of marine communities. Although the causes of this pronounced ecosystem shift have been widely debated, the broad consensus based on inferences from global taxonomic diversity patterns suggests that the shift from abundant brachiopods to dominant molluscs was abrupt and largely driven by the catastrophic effects of the end-Permian mass extinction. Here we analyze relative abundance counts of >33,000 fossil individuals from 24 silicified Middle and Late Permian paleocommunities, documenting a substantial ecological shift to numerical dominance by molluscs in the Late Permian, before the major taxonomic shift at the end-Permian mass extinction. This ecological change was coincident with the development of fluctuating anoxic conditions in deep marine basins, suggesting that numerical dominance by more tolerant molluscs may have been driven by variably stressful environmental conditions. Recognition of substantial ecological deterioration in the Late Permian also implies that the end-Permian extinction was the climax of a protracted environmental crisis. Although the Late Permian shift to molluscan dominance was a pronounced ecological change, quantitative counts of 847 Carboniferous-Cretaceous collections from the Paleobiology Database indicate that it was only the first stage in a stepwise transition that culminated with the final shift to molluscan dominance in the Late Jurassic. Therefore, the ecological transition from brachiopods to bivalves was more protracted and complex than their simple Permian-Triassic switch in diversity.
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Clapham, Matthew E.; Bottjer, David J.
2007-01-01
The end-Permian mass extinction was the largest biotic crisis in the history of animal life, eliminating as many as 95% of all species and dramatically altering the ecological structure of marine communities. Although the causes of this pronounced ecosystem shift have been widely debated, the broad consensus based on inferences from global taxonomic diversity patterns suggests that the shift from abundant brachiopods to dominant molluscs was abrupt and largely driven by the catastrophic effects of the end-Permian mass extinction. Here we analyze relative abundance counts of >33,000 fossil individuals from 24 silicified Middle and Late Permian paleocommunities, documenting a substantial ecological shift to numerical dominance by molluscs in the Late Permian, before the major taxonomic shift at the end-Permian mass extinction. This ecological change was coincident with the development of fluctuating anoxic conditions in deep marine basins, suggesting that numerical dominance by more tolerant molluscs may have been driven by variably stressful environmental conditions. Recognition of substantial ecological deterioration in the Late Permian also implies that the end-Permian extinction was the climax of a protracted environmental crisis. Although the Late Permian shift to molluscan dominance was a pronounced ecological change, quantitative counts of 847 Carboniferous–Cretaceous collections from the Paleobiology Database indicate that it was only the first stage in a stepwise transition that culminated with the final shift to molluscan dominance in the Late Jurassic. Therefore, the ecological transition from brachiopods to bivalves was more protracted and complex than their simple Permian–Triassic switch in diversity. PMID:17664426
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Epigenetics of dominance for enzyme activity
Indian Academy of Sciences (India)
and produce qualitatively different allozymes and the two alleles are expressed equally within and across all three genotypes and and play an equal role in the epigenetics of dominance. Subunit interaction in the heterodimer over a wide range of H+ concentrations accounts for the epigenetics of dominance for ...
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Multivariate Discrete First Order Stochastic Dominance
DEFF Research Database (Denmark)
Tarp, Finn; Østerdal, Lars Peter
This paper characterizes the principle of first order stochastic dominance in a multivariate discrete setting. We show that a distribution f first order stochastic dominates distribution g if and only if f can be obtained from g by iteratively shifting density from one outcome to another...
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Acute abdomen and ascites as presenting features of autosomal dominant polycystic kidney disease
Chaudhary, Sanjay; Qian, Qi
2012-01-01
We describe a patient with sudden onset of abdominal pain and ascites, leading to the diagnosis of autosomal dominant polycystic kidney disease (ADPKD). Her presentation was consistent with acute liver cyst rupture as the cause of her acute illness. A review of literature on polycystic liver disease in patients with ADPKD and current management strategies are presented. This case alerts physicians that ADPKD could occasionally present as an acute abdomen; cyst rupture related to ADPKD may be ...
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The dominance of accidents caused by banalities
DEFF Research Database (Denmark)
Jørgensen, Kirsten
Most prevention analysis is focused on high risks, such as explosion, fire, lack of containment for chemicals, crashes in transportation systems, lack of oxygen, or chemical poisoning. In the industrial world, these kinds of risk still lead to incidents with huge consequences, albeit very seldom...... as an example of how much information such systems can offer in general for the work of accident prevention in more traditional and common enterprises....
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Symbolic Violence and Masculine Domination in the Colombian Cinematographic Discourse
Directory of Open Access Journals (Sweden)
Luisa Fernanda Muñoz Rodríguez
2016-01-01
Full Text Available This article proposes an approach to the notion of symbolic violence in Pierre Bourdieu, specifically focused on structural violence against women. This review is based on Bourdieu’s key text Masculine Domination. This concept is related to the objective and subjective variants that have (re produced and perpetuated a patriarchal system dominated by symbolic domination and binary opposites under the objective schema of male dominance, which has additionally generated the multiplication and constant production of violent enunciations regarding the feminine. These enunciations have been part of a patriarchal discourse that generates gender representations that make women invisible, re-subordinated and stereotyped: such is the case of the cinematic discourse. During the last decade in Colombia, for example, public discourses have reflected its social and political passage, including the location of the feminine subject in a subordinate position. The enunciation of the feminine image might be cause or effect, or both, of the institutional construction of certain gender stereotypes and, in turn, of the permanent establishment of a symbolic violence that links openly to the structural violence that is carried out every day in the country against women. The films selected for the analysis of cinematographic texts discussed in this article were reviewed taking into account the number of spectators by year, according to data from Proimágenes Colombia; the three chosen texts were from films which grossed the most in the year of release. Similarly, their selection was linked to the main participation of the female role inside the argumentative body in each film. The texts treated in this article are from the films Sin tetas no hay paraíso (No Paradise without Tits- 2010, of the director Gustavo Bolivar; Rosario Tijeras (Rosario Scissors -2005, of the director Emilio Maillé, and El arriero ( The Mule Driver -2009, of the director Guillermo Calle. From
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Chapman, Arlene B.; Devuyst, Olivier; Eckardt, Kai-Uwe; Gansevoort, Ron T.; Harris, Tess; Horie, Shigeo; Kasiske, Bertram L.; Odland, Dwight; Pei, York; Perrone, Ronald D.; Pirson, Yves; Schrier, Robert W.; Torra, Roser; Torres, Vicente E.; Watnick, Terry; Wheeler, David C.
Autosomal-dominant polycystic kidney disease (ADPKD) affects up to 12 million individuals and is the fourth most common cause for renal replacement therapy worldwide. There have been many recent advances in the understanding of its molecular genetics and biology, and in the diagnosis and management
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Ode, Minami; Asaba, Akari; Miyazawa, Eri; Mogi, Kazutaka; Kikusui, Takefumi; Izawa, Ei-Ichi
2015-07-01
Group living has both benefits and costs to individuals; benefits include efficient acquisition of resources, and costs include stress from social conflicts among group members. Such social challenges result in hierarchical dominance ranking among group members as a solution to avoid escalating conflict that causes different levels of basal stress between individuals at different ranks. Stress-associated glucocorticoid (corticosterone in rodents and birds; CORT) levels are known to correlate with dominance rank in diverse taxa and to covary with various social factors, such as sex and dominance maintenance styles. Although there is much evidence for sex differences in the basal levels of CORT in various species, the correlation of sex differences in basal CORT with dominance rank is poorly understood. We investigated the correlation between CORT metabolites (CM) in the droppings and social factors, including rank and sex, in a captive non-breeder group of crows. In this group, all the single males dominated all the single females, and dominance ranks were stable among single males but relatively unstable among single females. CM levels and rank were significantly correlated in a sex-reversed fashion: males at higher rank (i.e., more dominant) had higher CM, whereas females at higher rank exhibited lower CM. This is the first evidence of sex-reversed patterns of CM-rank correlation in birds. The results suggest that different mechanisms of stress-dominance relationships operate on the sexes in non-breeder crow aggregations; in males, stress is associated with the cost of aggressive displays, whereas females experience subordination stress due to males' overt aggression. Copyright © 2015 Elsevier Inc. All rights reserved.
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Kutkowska-Kaźmierczak, Anna; Rydzanicz, Małgorzata; Chlebowski, Aleksander; Kłosowska-Kosicka, Kamila; Mika, Adriana; Gruchota, Jakub; Jurkiewicz, Elżbieta; Kowalewski, Cezary; Pollak, Agnieszka; Stradomska, Teresa Joanna; Kmieć, Tomasz; Jakubowski, Rafał; Gasperowicz, Piotr; Walczak, Anna; Śladowski, Dariusz; Jankowska-Steifer, Ewa; Korniszewski, Lech; Kosińska, Joanna; Obersztyn, Ewa; Nowak, Wieslaw; Śledziński, Tomasz; Dziembowski, Andrzej; Płoski, Rafał
2018-06-01
Ichthyosis and neurological involvement occur in relatively few known Mendelian disorders caused by mutations in genes relevant both for epidermis and neural function. To identify the cause of a similar phenotype of ichthyotic keratoderma, spasticity, mild hypomyelination (on MRI) and dysmorphic features (IKSHD) observed in two unrelated paediatric probands without family history of disease. Whole exome sequencing was performed in both patients. The functional effect of prioritised variant in ELOVL1 (very-long-chain fatty acids (VLCFAs) elongase) was analysed by VLCFA profiling by gas chromatography-mass spectrometry in stably transfected HEK2932 cells and in cultured patient's fibroblasts. Probands shared novel heterozygous ELOVL1 p.Ser165Phe mutation (de novo in one family, while in the other family, father could not be tested). In transfected cells p.Ser165Phe: (1) reduced levels of FAs C24:0-C28:0 and C26:1 with the most pronounced effect for C26:0 (P=7.8×10 -6 vs HEK293 cells with wild type (wt) construct, no difference vs naïve HEK293) and (2) increased levels of C20:0 and C22:0 (P=6.3×10 -7 , P=1.2×10 -5 , for C20:0 and C22:0, respectively, comparison vs HEK293 cells with wt construct; P=2.2×10 -7 , P=1.9×10 -4 , respectively, comparison vs naïve HEK293). In skin fibroblasts, there was decrease of C26:1 (P=0.014), C28:0 (P=0.001) and increase of C20:0 (P=0.033) in the patient versus controls. There was a strong correlation (r=0.92, P=0.008) between the FAs profile of patient's fibroblasts and that of p.Ser165Phe transfected HEK293 cells. Serum levels of C20:0-C26:0 FAs were normal, but the C24:0/C22:0 ratio was decreased. The ELOVL1 p.Ser165Phe mutation is a likely cause of IKSHD. © Article author(s) (or their employer(s) unless otherwise stated in the text of the article) 2018. All rights reserved. No commercial use is permitted unless otherwise expressly granted.
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Saroja, Aralikatte Onkarappa; Naik, Karkal Ravishankar; Nalini, Atcharayam; Gayathri, Narayanappa
2013-10-01
Bethlem myopathy and Ullrich congenital muscular dystrophy form a spectrum of collagenopathies caused by genetic mutations encoding for any of the three subunits of collagen VI. Bethlem phenotype is relatively benign and is characterized by proximal dominant myopathy, keloids, contractures, distal hyperextensibility, and follicular hyperkeratosis. Three patients from a single family were diagnosed to have Bethlem myopathy based on European Neuromuscular Centre Bethlem Consortium criteria. Affected father and his both sons had slowly progressive proximal dominant weakness and recurrent falls from the first decade. Both children aged 18 and 20 years were ambulant at presentation. All had flexion contractures, keloids, and follicular hyperkeratosis without muscle hypertrophy. Creatinine kinase was mildly elevated and electromyography revealed myopathic features. Muscle imaging revealed severe involvement of glutei and vasti with "central shadow" in rectus femoris. Muscle biopsy in the father showed dystrophic changes with normal immmunostaining for collagen VI, sarcoglycans, and dysferlin.
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Directory of Open Access Journals (Sweden)
Aralikatte Onkarappa Saroja
2013-01-01
Full Text Available Bethlem myopathy and Ullrich congenital muscular dystrophy form a spectrum of collagenopathies caused by genetic mutations encoding for any of the three subunits of collagen VI. Bethlem phenotype is relatively benign and is characterized by proximal dominant myopathy, keloids, contractures, distal hyperextensibility, and follicular hyperkeratosis. Three patients from a single family were diagnosed to have Bethlem myopathy based on European Neuromuscular Centre Bethlem Consortium criteria. Affected father and his both sons had slowly progressive proximal dominant weakness and recurrent falls from the first decade. Both children aged 18 and 20 years were ambulant at presentation. All had flexion contractures, keloids, and follicular hyperkeratosis without muscle hypertrophy. Creatinine kinase was mildly elevated and electromyography revealed myopathic features. Muscle imaging revealed severe involvement of glutei and vasti with "central shadow" in rectus femoris. Muscle biopsy in the father showed dystrophic changes with normal immmunostaining for collagen VI, sarcoglycans, and dysferlin.
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The morphological classification of heartbeats as dominant and non-dominant in ECG signals
International Nuclear Information System (INIS)
Chiarugi, Franco; Emmanouilidou, Dimitra; Tsamardinos, Ioannis
2010-01-01
Surface electrocardiography (ECG) is the art of analyzing the heart's electrical activity by applying electrodes to certain positions on the body and measuring potentials at the body surface resulting from this electrical activity. Usually, significant clinical information can be obtained from analysis of the dominant beat morphology. In this respect, identification of the dominant beats and their averaging can be very helpful, allowing clinicians to carry out the measurement of amplitudes and intervals on a beat much cleaner from noise than a generic beat selected from the entire ECG recording. In this paper a standard clustering algorithm for the morphological grouping of heartbeats has been analyzed based on K-means, different signal representations, distance metrics and validity indices. The algorithm has been tested on all the records of the MIT-BIH Arrhythmia Database (MIT-BIH AD) obtaining satisfying performances in terms of averaged dominant beat estimation, but the results have not been fully satisfactory in terms of sensitivity and specificity. In order to improve the clustering accuracy, an ad hoc algorithm based on a two-phase decision tree, which integrates additional specific knowledge related to the ECG domain, has been implemented. Similarity features extracted from every beat have been used in the decision trees for the identification of different morphological classes of ECG beats. The results, in terms of dominant beat discrimination, have been evaluated on all annotated beats of the MIT-BIH AD with sensitivity = 99.05%, specificity = 93.94%, positive predictive value = 99.32% and negative predictive value = 91.69%. Further tests have shown a very slight decrement of the performances on all detected beats of the same database using an already published QRS detector, demonstrating the validity of the algorithm in real unsupervised clustering situations where annotated beat positions are not available but beats are detected with a high
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Crase, Beth; Vesk, Peter A; Liedloff, Adam; Wintle, Brendan A
2015-08-01
Dominant species influence the composition and abundance of other species present in ecosystems. However, forecasts of distributional change under future climates have predominantly focused on changes in species distribution and ignored possible changes in spatial and temporal patterns of dominance. We develop forecasts of spatial changes for the distribution of species dominance, defined in terms of basal area, and for species occurrence, in response to sea level rise for three tree taxa within an extensive mangrove ecosystem in northern Australia. Three new metrics are provided, indicating the area expected to be suitable under future conditions (Eoccupied ), the instability of suitable area (Einstability ) and the overlap between the current and future spatial distribution (Eoverlap ). The current dominance and occurrence were modelled in relation to a set of environmental variables using boosted regression tree (BRT) models, under two scenarios of seedling establishment: unrestricted and highly restricted. While forecasts of spatial change were qualitatively similar for species occurrence and dominance, the models of species dominance exhibited higher metrics of model fit and predictive performance, and the spatial pattern of future dominance was less similar to the current pattern than was the case for the distributions of species occurrence. This highlights the possibility of greater changes in the spatial patterning of mangrove tree species dominance under future sea level rise. Under the restricted seedling establishment scenario, the area occupied by or dominated by a species declined between 42.1% and 93.8%, while for unrestricted seedling establishment, the area suitable for dominance or occurrence of each species varied from a decline of 68.4% to an expansion of 99.5%. As changes in the spatial patterning of dominance are likely to cause a cascade of effects throughout the ecosystem, forecasting spatial changes in dominance provides new and
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A dichotomy for upper domination in monogenic classes
AbouEisha, Hassan M.; Hussain, Shahid; Lozin, Vadim V.; Monnot, Jé rô me; Ries, Bernard
2014-01-01
An upper dominating set in a graph is a minimal (with respect to set inclusion) dominating set of maximum cardinality. The problem of finding an upper dominating set is NP-hard for general graphs and in many restricted graph families. In the present
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Hypothalamic digoxin, hemispheric chemical dominance, and the tridosha theory.
Kurup, Ravi Kumar; Kurup, Parameswara Achutha
2003-05-01
Ayurveda, the traditional Indian System of Medicine, deals with the theory of the three tridosha states (both physical and psychological): Vata, Pitta, and Kapha. They are the three major human constitutional types that both depend on psychological and physical characteristics. The Pitta state is described as a critical, discriminative, and rational psychological state of mind, while the Kapha state is described as being dominant for emotional stimuli. The Vata state is an intermediate unstable shifting state. The Pitta types are of average height and built with well developed musculature. The Vata types are thin individuals with low body mass index. The Kapha types are short stocky individuals that tend toward obesity, and who are sedentary. The study assessed the biochemical differences between right hemispheric dominant, bihemispheric dominant, and left hemispheric dominant individuals, and then compared this with the patterns obtained in the Vata, Pitta, and Kapha states. The isoprenoid metabolites (digoxin, dolichol, and ubiquinone), glycoconjugate metabolism, free radical metabolism, and the RBC membrane composition were studied. The hemispheric chemical dominance in various systemic diseases and psychological states was also investigated. The results showed that right hemispheric chemically dominant/Kapha state had elevated digoxin levels, increased free radical production and reduced scavenging, increased tryptophan catabolites and reduced tyrosine catabolites, increased glycoconjugate levels and increased cholesterol: phospholipid ratio of RBC membranes. Left hemispheric chemically dominant/Pitta states had the opposite biochemical patterns. The patterns were normal or intermediate in the bihemispheric chemically dominant/Vata state. This pattern could be correlated with various systemic and neuropsychiatric diseases and personality traits. Right hemispheric chemical dominance/Kapha state represents a hyperdigoxinemic state with membrane sodium
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Duenk, Pascal; Calus, Mario P.L.; Wientjes, Yvonne C.J.; Bijma, Piter
2017-01-01
In quantitative genetics, the average effect at a single locus can be estimated by an additive (A) model, or an additive plus dominance (AD) model. In the presence of dominance, the AD-model is expected to be more accurate, because the A-model falsely assumes that residuals are independent and
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Bergman, Juraj; Mitrikeski, Petar T.
2015-01-01
Summary Sporulation efficiency in the yeast Saccharomyces cerevisiae is a well-established model for studying quantitative traits. A variety of genes and nucleotides causing different sporulation efficiencies in laboratory, as well as in wild strains, has already been extensively characterised (mainly by reciprocal hemizygosity analysis and nucleotide exchange methods). We applied a different strategy in order to analyze the variation in sporulation efficiency of laboratory yeast strains. Coupling classical quantitative genetic analysis with simulations of phenotypic distributions (a method we call phenotype modelling) enabled us to obtain a detailed picture of the quantitative trait loci (QTLs) relationships underlying the phenotypic variation of this trait. Using this approach, we were able to uncover a dominant epistatic inheritance of loci governing the phenotype. Moreover, a molecular analysis of known causative quantitative trait genes and nucleotides allowed for the detection of novel alleles, potentially responsible for the observed phenotypic variation. Based on the molecular data, we hypothesise that the observed dominant epistatic relationship could be caused by the interaction of multiple quantitative trait nucleotides distributed across a 60--kb QTL region located on chromosome XIV and the RME1 locus on chromosome VII. Furthermore, we propose a model of molecular pathways which possibly underlie the phenotypic variation of this trait. PMID:27904371
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Characterization of Cat-2t, a radiation-induced dominant cataract mutation in mice
International Nuclear Information System (INIS)
Graw, J.; Bors, W.; Gopinath, P.M.; Merkle, S.; Michel, C.; Reitmeir, P.; Schaeffer, E.S.; Summer, K.H.; Wulff, A.
1990-01-01
A dominant cataract mutation was detected recently among the offspring of x-ray-irradiated male mice. The mutation, which causes total lens opacity, has provisionally been designated by the gene symbol Cat-2t. In the lenses of heterozygous and homozygous Cat-2t mutants, the epithelial and fiber cells were swollen and the lens capsule was ruptured. The histologic analysis demonstrated a complete destruction of the cellular organization of the lens, which might be caused by its altered developmental processes. The data derived from biochemical investigations indicate that biochemistry of the cataractous Cat-2t lenses is affected: the osmotic state as indicated by the increased water content and increased Na(+)-K(+)-adenosinetriphosphatase (ATPase) activity; the energy state as indicated by the decreased adenosine triphosphate (ATP) concentration; and the redox state as indicated by the enhanced content of oxidized glutathione. Additionally, the lenticular protein composition is altered because of the presence of vimentin in the water-soluble fraction. This cannot be explained by the enhanced crosslinking activity of transglutaminase. The changes of the osmotic, energy, and redox states are considered to be secondary in relation to the altered lenticular development. In contrast, the variations concerning vimentin and transglutaminase might be a biochemical indication of the changed development. Possible similarities to other dominantly expressed murine cataract mutants are discussed
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Foam topology. Bending versus stretching dominated architectures
International Nuclear Information System (INIS)
Deshpande, V.; Ashby, M.; Fleck, N.
2000-01-01
Cellular solids can deform by either the bending or stretching of the cell walls. While most cellular solids are bending-dominated, those that are stretching-dominated are much more weight-efficient for structural applications. In this study we have investigated the topological criteria that dictate the deformation mechanism of a cellular solid by analysing the rigidity (or otherwise) of pin-jointed frameworks comprising inextensional struts. We show that the minimum node connectivity for a special class of lattice structured materials to be stretching-dominated is 6 for 2D foams and 12 for 3D foams. Similarly, sandwich plates comprising of truss cores faced with planar trusses require a minimum node connectivity of 9 to undergo stretching-dominated deformation for all loading states. (author)
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Adams, L G; Hardy, R M; Weiss, D J; Bartges, J W
1993-01-01
Hypophosphatemia associated with hemolytic anemia was diagnosed in five cats with diabetes mellitus and in one cat with idiopathic hepatic lipidosis. The hematocrit began decreasing within 24 to 48 hours after documented hypophosphatemia in each case. The anemia resolved in all five surviving cats. Because of the temporal relationship and lack of other detectable causes, hemolytic anemia was presumed to be caused by hypophosphatemia. There were increased Heinz bodies in three of six hypophosphatemic cats during episodes of hemolysis. Intravenous potassium phosphate administration corrected the hypophosphatemia in four of five cats. The effective dosages of intravenous phosphate ranged from 0.011 to 0.017 mmol of phosphate/kg/h for 6 to 12 hours. Hypocalcemia (5.4 to 8.7 mg/dL) occurred in four of five cats treated with intravenous phosphate; however, only one cat developed clinical signs attributable to hypocalcemia. Based on this retrospective study, we recommend monitoring serum phosphorus concentration every 6 to 12 hours in cats likely to become hypophosphatemic. Treatment of hypophosphatemia in cats is warranted because of the apparent increased susceptibility of cats to hypophosphatemia-induced hemolysis. Cats with severe hypophosphatemia (< or = 1.5 mg/dL) should be given oral or parenteral phosphate if contraindications do not exist.
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Hypothalamic digoxin, hemispheric chemical dominance, and sleep.
Kurup, Ravi Kumar; Kurup, Parameswara Achutha
2003-04-01
The isoprenoid path way produces endogenous digoxin, a substance that can regulate neurotransmitter and amino acid transport. Digoxin synthesis and neurotransmitter patterns were assessed in individuals with chronic insomnia. The patterns were compared in those with right hemispheric and left hemispheric dominance. The activity of HMG GoA reductase and serum levels of digoxin, magnesium, tryptophan catabolites, and tyrosine catabolites were measured in individuals with chronic insomnia and in individuals with differing hemispheric dominance. Digoxin synthesis was increased with upregulated tryptophan catabolism (increased levels of serotonin, strychnine, and nicotine), and downregulated tyrosine catabolism (decreased levels of dopamine, noradrenaline, and morphine) in those with chronic insomnia and right hemispheric chemical dominance. Digoxin synthesis was reduced with downregulated tryptophan catabolism (decreased levels of serotonin, strychnine, and nicotine) and upregulated tyrosine catabolism (increased levels of dopamine, noradrenaline, and morphine) in those with normal sleep patterns and left hemispheric chemical dominance. Hypothalamic digoxin plays a central role in the regulation of sleep behavior. Hemispheric chemical dominance in relation to digoxin status is also crucial.
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Pehrson, Samuel; Carvacho, Héctor; Sibley, Chris G
2017-03-01
Social dominance orientation (SDO) is conceived as an individual's level of support for group-based hierarchy in general that causes support for more specific group hierarchies. According to social dominance theory, group differences in SDO underpin ideological and behavioural group differences related to specific group hierarchies. Using representative 5-year longitudinal panel data from New Zealand (N = 3,384), we test whether SDO mediates effects of sex and ethnicity on legitimizing myths (LMs) relating to gender and ethnic hierarchy over time. The SDO mediation hypothesis is supported in the case of hostile sexism. However, it is unsupported in the case of benevolent sexism and LMs relating to ethnic hierarchy, where there was no cross-lagged effect of SDO. Moreover, being in the dominant ethnic group is associated with more legitimization of ethnic hierarchy but less legitimization of gender hierarchy, which is inconsistent with the notion of a general orientation underpinning group differences in legitimation. There was mixed evidence for a reverse path whereby specific LMs mediate group differences in SDO across time. We argue for the need to find alternative ways to theorize ideological consensus and difference between groups. © 2016 The British Psychological Society.
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Directory of Open Access Journals (Sweden)
Yan Zhu
2017-11-01
Full Text Available The P2X2 receptor is an ATP-gated ion channel, assembled by three subunits. Recently, it has been found that heterozygous mutations of P2X2 V60L and G353R can cause autosomal dominant nonsyndromic hearing loss. However, the underlying mechanism remains unclear. The fact that heterozygous mutations cause deafness suggests that the mutations may have dominant-negative effect (DNE on wild-type (WT P2X2 isoforms and/or other partners leading to hearing loss. In this study, the effect of these dominant deafness P2X2 mutations on WT P2X2 was investigated. We found that sole transfection of both V60L and G353R deafness mutants could efficiently target to the plasma membrane, like WT P2X2, but exhibit a significantly reduced response to ATP stimulation. Both mutants reduced the channel conductance, but G353R mutation also altered the voltage dependency. Co-expression with WT P2X2 could restore the response to ATP. As the ratio of WT P2X2 vs. mutants increased, the response to ATP was also increased. Computer modeling confirmed that both V60L and G353R dominant-deafness mutant subunits do not have any negative effect on WT P2X2 subunit, when assembled as a heterotrimer. Improper docking or defective gating is the more likely mechanism for impaired channel function by these P2X2 deafness mutations. These results suggest that P2X2 dominant deafness mutations do not have negative effects on WT P2X2 isoforms, and that adding additional WT P2X2 could rescue the lost channel function caused by the deafness mutations. These P2X2 dominant deafness mutations may have negative-effects on other partners leading to hearing loss.
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Clapham, Matthew E.; Bottjer, David J.
2007-01-01
The end-Permian mass extinction was the largest biotic crisis in the history of animal life, eliminating as many as 95% of all species and dramatically altering the ecological structure of marine communities. Although the causes of this pronounced ecosystem shift have been widely debated, the broad consensus based on inferences from global taxonomic diversity patterns suggests that the shift from abundant brachiopods to dominant molluscs was abrupt and largely driven by the catastrophic effec...
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Dominating biological networks.
Directory of Open Access Journals (Sweden)
Tijana Milenković
Full Text Available Proteins are essential macromolecules of life that carry out most cellular processes. Since proteins aggregate to perform function, and since protein-protein interaction (PPI networks model these aggregations, one would expect to uncover new biology from PPI network topology. Hence, using PPI networks to predict protein function and role of protein pathways in disease has received attention. A debate remains open about whether network properties of "biologically central (BC" genes (i.e., their protein products, such as those involved in aging, cancer, infectious diseases, or signaling and drug-targeted pathways, exhibit some topological centrality compared to the rest of the proteins in the human PPI network.To help resolve this debate, we design new network-based approaches and apply them to get new insight into biological function and disease. We hypothesize that BC genes have a topologically central (TC role in the human PPI network. We propose two different concepts of topological centrality. We design a new centrality measure to capture complex wirings of proteins in the network that identifies as TC those proteins that reside in dense extended network neighborhoods. Also, we use the notion of domination and find dominating sets (DSs in the PPI network, i.e., sets of proteins such that every protein is either in the DS or is a neighbor of the DS. Clearly, a DS has a TC role, as it enables efficient communication between different network parts. We find statistically significant enrichment in BC genes of TC nodes and outperform the existing methods indicating that genes involved in key biological processes occupy topologically complex and dense regions of the network and correspond to its "spine" that connects all other network parts and can thus pass cellular signals efficiently throughout the network. To our knowledge, this is the first study that explores domination in the context of PPI networks.
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Keçeci, Neslihan Fidan; Kuzmenko, Viktor; Uryasev, Stan
2016-01-01
The paper compares portfolio optimization with the Second-Order Stochastic Dominance (SSD) constraints with mean-variance and minimum variance portfolio optimization. As a distribution-free decision rule, stochastic dominance takes into account the entire distribution of return rather than some specific characteristic, such as variance. The paper is focused on practical applications of the portfolio optimization and uses the Portfolio Safeguard (PSG) package, which has precoded modules for op...
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Neslihan Fidan Keçeci; Viktor Kuzmenko; Stan Uryasev
2016-01-01
The paper compares portfolio optimization with the Second-Order Stochastic Dominance (SSD) constraints with mean-variance and minimum variance portfolio optimization. As a distribution-free decision rule, stochastic dominance takes into account the entire distribution of return rather than some specific characteristic, such as variance. The paper is focused on practical applications of the portfolio optimization and uses the Portfolio Safeguard (PSG) package, which has precoded modules for op...
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An efficient non-dominated sorting method for evolutionary algorithms.
Fang, Hongbing; Wang, Qian; Tu, Yi-Cheng; Horstemeyer, Mark F
2008-01-01
We present a new non-dominated sorting algorithm to generate the non-dominated fronts in multi-objective optimization with evolutionary algorithms, particularly the NSGA-II. The non-dominated sorting algorithm used by NSGA-II has a time complexity of O(MN(2)) in generating non-dominated fronts in one generation (iteration) for a population size N and M objective functions. Since generating non-dominated fronts takes the majority of total computational time (excluding the cost of fitness evaluations) of NSGA-II, making this algorithm faster will significantly improve the overall efficiency of NSGA-II and other genetic algorithms using non-dominated sorting. The new non-dominated sorting algorithm proposed in this study reduces the number of redundant comparisons existing in the algorithm of NSGA-II by recording the dominance information among solutions from their first comparisons. By utilizing a new data structure called the dominance tree and the divide-and-conquer mechanism, the new algorithm is faster than NSGA-II for different numbers of objective functions. Although the number of solution comparisons by the proposed algorithm is close to that of NSGA-II when the number of objectives becomes large, the total computational time shows that the proposed algorithm still has better efficiency because of the adoption of the dominance tree structure and the divide-and-conquer mechanism.
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International Nuclear Information System (INIS)
Fischer, G.E.
1985-07-01
These two lectures on iron dominated magnets are meant for the student of accelerator science and contain general treatments of the subjects design and construction. The material is arranged in the categories: General Concepts and Cost Considerations, Profile Configuration and Harmonics, Magnetic Measurements, a few examples of ''special magnets'' and Materials and Practices. Extensive literature is provided
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Directory of Open Access Journals (Sweden)
Neslihan Fidan Keçeci
2016-10-01
Full Text Available The paper compares portfolio optimization with the Second-Order Stochastic Dominance (SSD constraints with mean-variance and minimum variance portfolio optimization. As a distribution-free decision rule, stochastic dominance takes into account the entire distribution of return rather than some specific characteristic, such as variance. The paper is focused on practical applications of the portfolio optimization and uses the Portfolio Safeguard (PSG package, which has precoded modules for optimization with SSD constraints, mean-variance and minimum variance portfolio optimization. We have done in-sample and out-of-sample simulations for portfolios of stocks from the Dow Jones, S&P 100 and DAX indices. The considered portfolios’ SSD dominate the Dow Jones, S&P 100 and DAX indices. Simulation demonstrated a superior performance of portfolios with SD constraints, versus mean-variance and minimum variance portfolios.
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Directory of Open Access Journals (Sweden)
Wen-Li Duan
2015-11-01
Full Text Available AIM:To study the distribution of the dominant eye in people with myopia and astigmatism and the relationship between dominant eye and the two. METHODS:Three hundred and eighty patients who went our hospital for optometry consecutively were enrolled, using hole-in-card method to detect the dominant eye. The records of age, gender, vision acuity and other related information were analyzed by SPSS 11.0 software. RESULTS: 1Most of the dominant eyes were right eyes which accounted for 66.84%, and the ametropia degree on right eyes was relatively higher; 2Dominant eyes had no significant association with gender, age and uncorrected vision acuity(P>0.05; 3There was no significant correlation between the dominant eyes and ametropia degree(P>0.05. But in the group which the difference of cylinder degree between two eyes were ≥1D, only 20% of the dominant eyes had higher ametropia degree, which was different from the other two groups. CONCLUSION:High cylinder of anisometropia may affect the choice of the dominant eye. High sphere of anisometropia may be the result of the choice of dominant eye.
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Total dominator chromatic number of a graph
Directory of Open Access Journals (Sweden)
Adel P. Kazemi
2015-06-01
Full Text Available Given a graph $G$, the total dominator coloring problem seeks a proper coloring of $G$ with the additional property that every vertex in the graph is adjacent to all vertices of a color class. We seek to minimize the number of color classes. We initiate to study this problem on several classes of graphs, as well as finding general bounds and characterizations. We also compare the total dominator chromatic number of a graph with the chromatic number and the total domination number of it.
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1981-03-01
gins/day in young adults (Ciba-Geigy, 1971). if This quantity is much greater than the O.lg dose, the approximate level dose of white phosphorus in an... adult human. * 4.1.2.2 Phosphorus Burns Phosphorus burns, as encountered in industrial accidents or on the battlefield, cause serious injury locally and...Abstract. Bowen, T.E., T.J. Whelan, Jr., T.G. Nelson, "Sudden Deaths After Phosphorus Burns: Experimental Observations Of Hypocalcemia
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Causes of informal settlements in Ekurhuleni Metropolitan Municipality: An exploration
Directory of Open Access Journals (Sweden)
Noah K. Marutlulle
2017-08-01
Full Text Available This article aims to explore the causes of informal settlements in Ekurhuleni Metropolitan Municipality (EMM. The article strongly challenges the view that the cause of informal settlements in EMM and other parts of South Africa is predominantly the apartheid government and agrees with literature which provides evidence that to a larger extent, the present government, not the apartheid government, is one of the dominant causes of informal settlements. The article further establishes a common and fertile ground for the convergence of the different views and perspectives into variables which, in addition to the present government, include population growth, government economic policies, economic variables, housing shortage, unavailability of land and unaffordability as the real causes of informal settlements in EMM.
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Energy Technology Data Exchange (ETDEWEB)
Meszaros, Szilvia [First Department of Internal Medicine, Faculty of Medicine, Semmelweis University, Koranyi Sandor Str. 2/a, Budapest H-1083 (Hungary); Ferencz, Viktoria [First Department of Internal Medicine, Faculty of Medicine, Semmelweis University, Koranyi Sandor Str. 2/a, Budapest H-1083 (Hungary); Csupor, Emoke [Health Service, Budavar Local Authorities, Budapest (Hungary); Mester, Adam [Department of Radiology and Oncotherapy, Faculty of Medicine, Semmelweis University, Budapest (Hungary); Hosszu, Eva [Second Department of Paediatrics, Faculty of Medicine, Semmelweis University, Budapest (Hungary); Toth, Edit [Department of Reumatology, Ferenc Flor County Hospital, Kerepestarcsa (Hungary); Horvath, Csaba [First Department of Internal Medicine, Faculty of Medicine, Semmelweis University, Koranyi Sandor Str. 2/a, Budapest H-1083 (Hungary)]. E-mail: horcsa@bel1.sote.hu
2006-11-15
Our study was initiated to evaluate whether there are differences between the two sides, depending on hand dominance, in densitometry values and quantitative ultrasound parameters (QUS) of the lower limb. One hundred and six women and 44 men were involved. The hand dominance was determined by interview. The bone mineral density (BMD) of the left and the right femoral necks and the calcanei were measured by dual-energy X-ray absorpiometry (DXA). The QUS examination consisted of measuring the attenuation (BUA), the speed of the ultrasound (SOS) and quantitative ultrasound index (QUI) transversing the left and right calcanei. The density of the neck of femur of the non-dominant side did not differ from that of the dominant side. On the other hand, BMD, BUA and the QUI of the calcaneus were higher on the non-dominant side in both genders (p < 0.05 for each parameter). No similar differences were seen for the SOS values. Our study has confirmed the side-to-side differences of the calcaneus in both genders, lower values were found on the dominant side. No similar differences were seen on the femur. The AUC values seemed to be higher on the dominant side, however, these differences were not strictly significant. In the case of peripheral site (heel) measurements, the practical significance of our observations is that they raise the possibility of performing peripheral DXA and QUS examinations of the calcaneus on the dominant side of the patient according to handedness.
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Heavy-ion dominance near Cluster perigees
Ferradas, C. P.; Zhang, J.-C.; Kistler, L. M.; Spence, H. E.
2015-12-01
Time periods in which heavy ions dominate over H+ in the energy range of 1-40 keV were observed by the Cluster Ion Spectrometry (CIS)/COmposition DIstribution Function (CODIF) instrument onboard Cluster Spacecraft 4 at L values less than 4. The characteristic feature is a narrow flux peak at around 10 keV that extends into low L values, with He+ and/or O+ dominating. In the present work we perform a statistical study of these events and examine their temporal occurrence and spatial distribution. The observed features, both the narrow energy range and the heavy-ion dominance, can be interpreted using a model of ion drift from the plasma sheet, subject to charge exchange losses. The narrow energy range corresponds to the only energy range that has direct drift access from the plasma sheet during quiet times. The drift time to these locations from the plasma sheet is > 30 h, so that charge exchange has a significant impact on the population. We show that a simple drift/loss model can explain the dependence on L shell and MLT of these heavy-ion-dominant time periods.
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Tan, Xiaoping; Guo, Yang; Dun, Saihong; Sun, Hongzan
2018-05-18
Crossed aphasia (CA), usually referred to as an acquired language disturbance, is caused by a lesion in the cerebral hemisphere ipsilateral to the dominant hand, and the exact mechanism is not clear. The development of handedness is influenced by education and training and the impact of habitualization, while language is more susceptible to the impact of speech habits, and it is not absolutely accurate to judge cerebral language dominance by the degree of hand preference. We describe a case of CA after right hemispheric stroke in a right-handed patient with atypical language dominance and attempt to analyze the mechanism of CA based on functional imaging methods, including arterial spin labeling (ASL) and positron emission tomography/magnetic resonance imaging (PET-MRI). Brain MRI at 24 h after admission showed a large cerebral infarction in the right cerebral hemisphere, including the posteroinferior part of Broca's area in the right frontal lobe, the right temporal lobe, and the right occipital lobe. The patient exhibited a non-fluent aphasia on a standard language test (the Aphasia Battery of Chinese [ABC]) performed on the 7th day after onset. Thus, atypical language dominance was suspected. One week after admission, ASL imaging showed high perfusion in the infarct core zone and low perfusion in the left cerebellar hemisphere. Two months later, PET/MRI demonstrated low metabolism in the posterior frontal lobe, temporal lobe, temporal occipital junction area, and the right basal ganglia. The findings suggest that the patient has right-sided cerebral language dominance, or that both hemispheres have linguistic functions. Not all patients show linguistic capabilities on the side opposite hand preference. The language dominance should be predicted by a combination of clinical manifestations and functional imaging techniques.
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Congenital hypoparathyroidism presenting as recurrent seizures in an adult
Acharya, Sourya; Shukla, Samarth; Singh, Dinesh; Deshpande, Rohit; Mahajan, S. N.
2012-01-01
Hypocalcemia due to hypoparathyroidism may manifest as serious neurologic symptoms such as seizures, movement disorders, or raised intracranial pressure. Several patients were observed to have these dangerous neurologic complications even without subtle signs of hypocalcemia like tetany, chvostek's sign or carpopedal spasms. We present a case of recurrent hypocalcemic seizures due to congenital hypoparathyroidism.
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Why large cells dominate estuarine phytoplankton
Cloern, James E.
2018-01-01
Surveys across the world oceans have shown that phytoplankton biomass and production are dominated by small cells (picoplankton) where nutrient concentrations are low, but large cells (microplankton) dominate when nutrient-rich deep water is mixed to the surface. I analyzed phytoplankton size structure in samples collected over 25 yr in San Francisco Bay, a nutrient-rich estuary. Biomass was dominated by large cells because their biomass selectively grew during blooms. Large-cell dominance appears to be a characteristic of ecosystems at the land–sea interface, and these places may therefore function as analogs to oceanic upwelling systems. Simulations with a size-structured NPZ model showed that runs of positive net growth rate persisted long enough for biomass of large, but not small, cells to accumulate. Model experiments showed that small cells would dominate in the absence of grazing, at lower nutrient concentrations, and at elevated (+5°C) temperatures. Underlying these results are two fundamental scaling laws: (1) large cells are grazed more slowly than small cells, and (2) grazing rate increases with temperature faster than growth rate. The model experiments suggest testable hypotheses about phytoplankton size structure at the land–sea interface: (1) anthropogenic nutrient enrichment increases cell size; (2) this response varies with temperature and only occurs at mid-high latitudes; (3) large-cell blooms can only develop when temperature is below a critical value, around 15°C; (4) cell size diminishes along temperature gradients from high to low latitudes; and (5) large-cell blooms will diminish or disappear where planetary warming increases temperature beyond their critical threshold.
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Increasing Water Temperature Triggers Dominance of Small Freshwater Plankton.
Rasconi, Serena; Gall, Andrea; Winter, Katharina; Kainz, Martin J
2015-01-01
Climate change scenarios predict that lake water temperatures will increase up to 4°C and rainfall events will become more intense and frequent by the end of this century. Concurrently, supply of humic substances from terrestrial runoff is expected to increase, resulting in darker watercolor ("brownification") of aquatic ecosystems. Using a multi-seasonal, low trophic state mesocosm experiment, we investigated how higher water temperature and brownification affect plankton community composition, phenology, and functioning. We tested the hypothesis that higher water temperature (+3°C) and brownification will, a) cause plankton community composition to shift toward small sized phytoplankton and cyanobacteria, and, b) extend the length of the growing season entailing higher phytoplankton production later in the season. We demonstrate that the 3°C increase of water temperature favored the growth of heterotrophic bacteria and small sized autotrophic picophytoplankton cells with significantly higher primary production during warmer fall periods. However, 3X darker water (effect of brownification) caused no significant changes in the plankton community composition or functioning relative to control conditions. Our findings reveal that increased temperature change plankton community structure by favoring smaller sized species proliferation (autotrophic phytoplankton and small size cladocerans), and increase primary productivity and community turnover. Finally, results of this multi-seasonal experiment suggest that warming by 3°C in aquatic ecosystems of low trophic state may cause planktonic food web functioning to become more dominated by fast growing, r-trait species (i.e., small sizes and rapid development).
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Why social dominance theory has been falsified.
Turner, John C; Reynolds, Katherine J
2003-06-01
Schmitt, Branscombe and Kappen (2003) and Wilson and Lui (2003) present a persuasive series of studies which raise major problems for the conceptualization of social dominance orientation in social dominance theory. Building on these and other data in the literature, this commentary summarizes six fundamental criticisms which can be made of the theory. We conclude that social dominance theory is flawed by conceptual inconsistencies and has been disconfirmed empirically in relation to its key hypothesis of behavioural asymmetry. The reaction of subordinate groups to the social hierarchy is better explained by social identity theory.
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Beam halo formation from space-charge dominated beams in uniform focusing channels
International Nuclear Information System (INIS)
O'Connell, J.S.; Wangler, T.P.; Mills, R.S.; Crandall, K.R.
1993-01-01
In space-charge dominated beams the nonlinear space-charge forces produce a filamentation pattern, which results in a 2-component beam consisting of an inner core and an outer halo. The halo is very prominent in mismatched beams, and the potential for accelerator activation is of concern for a next generation of cw, high-power proton linacs that could be applied for intense neutron generators to process nuclear materials. We present new results about beam halo and the evolution of space-charge dominated beams from multiparticle simulation of initial laminar beams in a uniform linear focusing channel, and from a model consisting of single particle interactions with a uniform-density beam core. We study the energy gain from particle interactions with the space-charge field of the core, and we identify the resonant characteristic of this interaction as the basic cause of the separation of the beam into the two components. We identify three different particle-trajectory types, and we suggest that one of these types may lead to continuous halo growth, even after the halo is removed by collimators
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Upper Domination: Towards a Dichotomy Through Boundary Properties
AbouEisha, Hassan M.
2017-07-14
An upper dominating set in a graph is a minimal dominating set of maximum cardinality. The problem of finding an upper dominating set is generally NP-hard. We study the complexity of this problem in finitely defined classes of graphs and conjecture that the problem admits a complexity dichotomy in this family. A helpful tool to study the complexity of an algorithmic problem is the notion of boundary classes. However, none of such classes has been identified so far for the upper dominating set problem. We discover the first boundary class for this problem and prove the dichotomy for monogenic classes.
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Olex-Zarychta, Dorota; Koprowski, Robert; Sobota, Grzegorz; Wróbel, Zygmunt
2009-08-07
The aim of the study was to determine the applicability of magnetic stimulation and magnetic motor evoked potentials (MEPs) in motor asymmetry studies by obtaining quantitative and qualitative measures of efferent activity during low intensity magnetic stimulation of the dominant and non-dominant lower extremities. Magnetic stimulation of the tibial nerve in the popliteal fossa was performed in 10 healthy male right-handed and right-footed young adults. Responses were recorded from the lateral head of the gastrocnemius muscles of the right and left lower extremities. Response characteristics (duration, onset latency, amplitude) were analyzed in relation to the functional dominance of the limbs and in relation to the direction of the current in the magnetic coil by use of the Wilcoxon pair sequence test. The CCW direction of coil current was related to reduced amplitudes of recorded MEPs. Greater amplitudes of evoked potentials were recorded in the non-dominant extremity, both in the CW and CCW coil current directions, with the statistical significance of this effect (p=0.005). No differences in duration of response were found in the CW current direction, while in CCW the time of the left-side response was prolonged (p=0.01). In the non-dominant extremity longer onset latencies were recorded in both current directions, but only for the CW direction the side asymmetries showed a statistical significance of p=0.005. In the dominant extremity the stimulation correlated with stronger paresthesias, especially using the CCW direction of coil current. The results indicate that low intensity magnetic stimulation may be useful in quantitative and qualitative research into the motor asymmetry.
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Directory of Open Access Journals (Sweden)
Manuela Silva
Full Text Available BACKGROUND: Chromatin organizational and topological plasticity, and its functions in gene expression regulation, have been strongly revealed by the analysis of nucleolar dominance in hybrids and polyploids where one parental set of ribosomal RNA (rDNA genes that are clustered in nucleolar organizing regions (NORs, is rendered silent by epigenetic pathways and heterochromatization. However, information on the behaviour of dominant NORs is very sparse and needed for an integrative knowledge of differential gene transcription levels and chromatin specific domain interactions. METHODOLOGY/PRINCIPAL FINDINGS: Using molecular and cytological approaches in a wheat-rye addition line (wheat genome plus the rye nucleolar chromosome pair 1R, we investigated transcriptional activity and chromatin topology of the wheat dominant NORs in a nucleolar dominance situation. Herein we report dominant NORs up-regulation in the addition line through quantitative real-time PCR and silver-staining technique. Accompanying this modification in wheat rDNA trascription level, we also disclose that perinucleolar knobs of ribosomal chromatin are almost transcriptionally silent due to the residual detection of BrUTP incorporation in these domains, contrary to the marked labelling of intranucleolar condensed rDNA. Further, by comparative confocal analysis of nuclei probed to wheat and rye NORs, we found that in the wheat-rye addition line there is a significant decrease in the number of wheat-origin perinucleolar rDNA knobs, corresponding to a diminution of the rDNA heterochromatic fraction of the dominant (wheat NORs. CONCLUSIONS/SIGNIFICANCE: We demonstrate that inter-specific interactions leading to wheat-origin NOR dominance results not only on the silencing of rye origin NOR loci, but dominant NORs are also modified in their transcriptional activity and interphase organization. The results show a cross-talk between wheat and rye NORs, mediated by ribosomal chromatin
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Acute abdomen and ascites as presenting features of autosomal dominant polycystic kidney disease.
Chaudhary, Sanjay; Qian, Qi
2012-12-27
We describe a patient with sudden onset of abdominal pain and ascites, leading to the diagnosis of autosomal dominant polycystic kidney disease (ADPKD). Her presentation was consistent with acute liver cyst rupture as the cause of her acute illness. A review of literature on polycystic liver disease in patients with ADPKD and current management strategies are presented. This case alerts physicians that ADPKD could occasionally present as an acute abdomen; cyst rupture related to ADPKD may be considered in the differential diagnoses of acute abdomen.
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A4 see-saw models and form dominance
International Nuclear Information System (INIS)
Chen, M-C; King, Stephen F.
2009-01-01
We introduce the idea of Form Dominance in the (type I) see-saw mechanism, according to which a particular right-handed neutrino mass eigenstate is associated with a particular physical neutrino mass eigenstate, leading to a form diagonalizable effective neutrino mass matrix. Form Dominance, which allows an arbitrary neutrino mass spectrum, may be regarded as a generalization of Constrained Sequential Dominance which only allows strongly hierarchical neutrino masses. We consider alternative implementations of the see-saw mechanism in minimal A 4 see-saw models and show that such models satisfy Form Dominance, leading to neutrino mass sum rules which predict closely spaced neutrino masses with a normal or inverted neutrino mass ordering. To avoid the partial cancellations inherent in such models we propose Natural Form Dominance, in which a different flavon is associated with each physical neutrino mass eigenstate.
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A recurrent deletion mutation in OPA1 causes autosomal dominant optic atrophy in a Chinese family
Zhang, Liping; Shi, Wei; Song, Liming; Zhang, Xiao; Cheng, Lulu; Wang, Yanfang; Ge, Xianglian; Li, Wei; Zhang, Wei; Min, Qingjie; Jin, Zi-Bing; Qu, Jia; Gu, Feng
2014-11-01
Autosomal dominant optic atrophy (ADOA) is the most frequent form of hereditary optic neuropathy and occurs due to the degeneration of the retinal ganglion cells. To identify the genetic defect in a family with putative ADOA, we performed capture next generation sequencing (CNGS) to screen known retinal disease genes. However, six exons failed to be sequenced by CNGS in optic atrophy 1 gene (OPA1). Sequencing of those exons identified a 4 bp deletion mutation (c.2983-1_2985del) in OPA1. Furthermore, we sequenced the transcripts of OPA1 from the patient skin fibroblasts and found there is six-nucleotide deletion (c.2984-c.2989, AGAAAG). Quantitative-PCR and Western blotting showed that OPA1 mRNA and its protein expression have no obvious difference between patient skin fibroblast and control. The analysis of protein structure by molecular modeling suggests that the mutation may change the structure of OPA1 by formation of an alpha helix protruding into an existing pocket. Taken together, we identified an OPA1 mutation in a family with ADOA by filling the missing CNGS data. We also showed that this mutation affects the structural intactness of OPA1. It provides molecular insights for clinical genetic diagnosis and treatment of optic atrophy.
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Energy Technology Data Exchange (ETDEWEB)
Fischer, G.E.
1985-07-01
These two lectures on iron dominated magnets are meant for the student of accelerator science and contain general treatments of the subjects design and construction. The material is arranged in the categories: General Concepts and Cost Considerations, Profile Configuration and Harmonics, Magnetic Measurements, a few examples of ''special magnets'' and Materials and Practices. Extensive literature is provided.
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Maeda, Yumi; Kettner, Norman; Kim, Jieun; Kim, Hyungjun; Cina, Stephen; Malatesta, Cristina; Gerber, Jessica; McManus, Claire; Libby, Alexandra; Mezzacappa, Pia; Mawla, Ishtiaq; Morse, Leslie R; Audette, Joseph; Napadow, Vitaly
2016-05-01
Paresthesia-dominant and pain-dominant subgroups have been noted in carpal tunnel syndrome (CTS), a peripheral neuropathic disorder characterized by altered primary somatosensory/motor (S1/M1) physiology. We aimed to investigate whether brain morphometry dissociates these subgroups. Subjects with CTS were evaluated with nerve conduction studies, whereas symptom severity ratings were used to allocate subjects into paresthesia-dominant (CTS-paresthesia), pain-dominant (CTS-pain), and pain/paresthesia nondominant (not included in further analysis) subgroups. Structural brain magnetic resonance imaging data were acquired at 3T using a multiecho MPRAGE T1-weighted pulse sequence, and gray matter cortical thickness was calculated across the entire brain using validated, automated methods. CTS-paresthesia subjects demonstrated reduced median sensory nerve conduction velocity (P = 0.05) compared with CTS-pain subjects. In addition, cortical thickness in precentral and postcentral gyri (S1/M1 hand area) contralateral to the more affected hand was significantly reduced in CTS-paresthesia subgroup compared with CTS-pain subgroup. Moreover, in CTS-paresthesia subjects, precentral cortical thickness was negatively correlated with paresthesia severity (r(34) = -0.40, P = 0.016) and positively correlated with median nerve sensory velocity (r(36) = 0.51, P = 0.001), but not with pain severity. Conversely, in CTS-pain subjects, contralesional S1 (r(9) = 0.62, P = 0.042) and M1 (r(9) = 0.61, P = 0.046) cortical thickness were correlated with pain severity, but not median nerve velocity or paresthesia severity. This double dissociation in somatotopically specific S1/M1 areas suggests a neuroanatomical substrate for symptom-based CTS subgroups. Such fine-grained subgrouping of CTS may lead to improved personalized therapeutic approaches, based on superior characterization of the linkage between peripheral and central neuroplasticity.
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Tensor meson dominance and e+e--physics
International Nuclear Information System (INIS)
Genz, H.; Karlsruhe Univ.; Mallik, S.
1983-01-01
The phenomenological status of tensor meson dominance is reported. Some new results concerning hadronic decays of the 2 ++ -meson chi 2 (3.55) and the heavy lepton tau are also included. Considering experimental errors, tensor meson dominance is in agreement with experiment. (author)
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Association between Ocular Sensory Dominance and Refractive Error Asymmetry.
Directory of Open Access Journals (Sweden)
Feng Jiang
Full Text Available To investigate the association between ocular sensory dominance and interocular refractive error difference (IRED.A total of 219 subjects were recruited. The refractive errors were determined by objective refraction with a fixation target located 6 meters away. 176 subjects were myopic, with 83 being anisometropic (IRED ≥ 0.75 D. 43 subjects were hyperopic, with 22 being anisometropic. Sensory dominance was measured with a continuous flashing technique with the tested eye viewing a Gabor increasing in contrast and the fellow eye viewing a Mondrian noise decreasing in contrast. The log ratio of Mondrian to Gabor's contrasts was recorded when a subject just detected the tilting direction of the Gabor during each trial. T-test was used to compare the 50 values collected from each eye, and the t-value was used as a subject's ocular dominance index (ODI to quantify the degree of ocular dominance. A subject with ODI ≥ 2 (p < 0.05 had clear dominance and the eye with larger mean ratio was the dominant one. Otherwise, a subject had an unclear dominance.The anisometropic subjects had stronger ocular dominance in comparison to non-anisometropic subjects (rank-sum test, p < 0.01 for both myopic and hyperopic subjects. In anisometropic subjects with clear dominance, the amplitude of the anisometropia was correlated with ODI values (R = 0.42, p < 0.01 in myopic anisometropic subjects; R = 0.62, p < 0.01 in hyperopic anisometropic subjects. Moreover, the dominant eyes were more myopic in myopic anisometropic subjects (sign-test, p < 0.05 and less hyperopic in hyperopic anisometropic subjects (sign-test, p < 0.05.The degree of ocular sensory dominance is associated with interocular refractive error difference.
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Directory of Open Access Journals (Sweden)
Cristiane Rocha
2002-03-01
Full Text Available Descrevemos o caso de uma criança do sexo masculino, com 2 meses de idade, com tremor e hipertonia desde 15º dia de vida transferido para o nosso Serviço em que foi diagnosticado como tendo crises epilépticas. A investigação constatou hipocalcemia (4 mg/dL e hipomagnesemia (1,6 mg/dL e a correção intravenosa foi iniciada. Em todas as tentativas de suspensão da medicação intravenosa havia recidiva das crises. O diagnóstico de hipoparatireoidismo foi aventado e confirmado por investigação complementar. O exame neurológico mostrava uma criança irritada e em opistótono. A tomografia e a ressonância de encéfalo foram normais, mas o EEG evidenciou graves anormalidades. O tratamento oral com colecalciferol, cálcio e magnésio foi instituído. O paciente permaneceu internado durante 6 meses com dificuldade de controle das crises e infecções repetidas, vindo a falecer por esse motivo. Discutimos os achados clínicos, exames complementares, o diagnóstico diferencial e o tratamento instituído.We report the case of a white male infant, 2 months-old, with tremor and hypertonia since 15th day of life transferred to our service and diagnosed as seizures. Investigation showed hypocalcaemia (4 mg/dl and hypomagnesemia (1.6 mg/dL and the infant's serum metabolic disturb was corrected by intravenous calcium gluconate and magnesium sulphate, but attempted to "wean" him from intravenous treatment led to a relapse of hypocalcemia. At this time hypoparathyroidism was suspected and the additional investigation confirmed this suspect ion. The neurologic examination revealed an irritable patient with marked extensor hypertonia and opisthotonos. Cranial CT and MRI scans were normal, but the EEG exam showed severe abnormalities. The infant was given the oral calcium gluconate, magnesium chloride and colecalciferol daily to maintain a normal calcium concentration, but the control was very difficult. The patient had an extend hospitalization of 6
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Status Decreases Dominance in the West but Increases Dominance in the East.
Kuwabara, Ko; Yu, Siyu; Lee, Alice J; Galinsky, Adam D
2016-02-01
In the experiments reported here, we integrated work on hierarchy, culture, and the enforcement of group cooperation by examining patterns of punishment. Studies in Western contexts have shown that having high status can temper acts of dominance, suggesting that high status may decrease punishment by the powerful. We predicted that high status would have the opposite effect in Asian cultures because vertical collectivism permits the use of dominance to reinforce the existing hierarchical order. Across two experiments, having high status decreased punishment by American participants but increased punishment by Chinese and Indian participants. Moreover, within each culture, the effect of status on punishment was mediated by feelings of being respected. A final experiment found differential effects of status on punishment imposed by Asian Americans depending on whether their Asian or American identity was activated. Analyzing enforcement through the lens of hierarchy and culture adds insight into the vexing puzzle of when and why people engage in punishment. © The Author(s) 2015.
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Matthews, Jonathan; Schipper, Aafke M; Hendriks, A Jan; Yen Le, T T; Bij de Vaate, Abraham; van der Velde, Gerard; Leuven, Rob S E W
2015-08-01
Bioinvasions are a major cause of biodiversity and ecosystem changes. The rapid range expansion of the invasive quagga mussel (Dreissena rostriformis bugensis) causing a dominance shift from zebra mussels (Dreissena polymorpha) to quagga mussels, may alter the risk of secondary poisoning to predators. Mussel samples were collected from various water bodies in the Netherlands, divided into size classes, and analysed for metal concentrations. Concentrations of nickel and copper in quagga mussels were significantly lower than in zebra mussels overall. In lakes, quagga mussels contained significantly higher concentrations of aluminium, iron and lead yet significantly lower concentrations of zinc66, cadmium111, copper, nickel, cobalt and molybdenum than zebra mussels. In the river water type quagga mussel soft tissues contained significantly lower concentrations of zinc66. Our results suggest that a dominance shift from zebra to quagga mussels may reduce metal exposure of predator species. Copyright © 2015 Elsevier Ltd. All rights reserved.
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Management of pain in autosomal dominant polycystic kidney disease and anatomy of renal innervation.
Tellman, Matthew W; Bahler, Clinton D; Shumate, Ashley M; Bacallao, Robert L; Sundaram, Chandru P
2015-05-01
Chronic pain is a prominent feature of autosomal dominant polycystic kidney disease that is difficult to treat and manage, often resulting in a decrease in quality of life. Understanding the underlying anatomy of renal innervation and the various etiologies of pain that occur in autosomal dominant polycystic kidney disease can help guide proper treatments to manage pain. Reviewing previously studied treatments for pain in autosomal dominant polycystic kidney disease can help characterize treatment in a stepwise fashion. We performed a literature search of the etiology and management of pain in autosomal dominant polycystic kidney disease and the anatomy of renal innervation using PubMed® and Embase® from January 1985 to April 2014 with limitations to human studies and English language. Pain occurs in the majority of patients with autosomal dominant polycystic kidney disease due to renal, hepatic and mechanical origins. Patients may experience different types of pain which can make it difficult to clinically confirm its etiology. An anatomical and histological evaluation of the complex renal innervation helps in understanding the mechanisms that can lead to renal pain. Understanding the complex nature of renal innervation is essential for surgeons to perform renal denervation. The management of pain in autosomal dominant polycystic kidney disease should be approached in a stepwise fashion. Acute causes of renal pain must first be ruled out due to the high incidence in autosomal dominant polycystic kidney disease. For chronic pain, nonopioid analgesics and conservative interventions can be used first, before opioid analgesics are considered. If pain continues there are surgical interventions such as renal cyst decortication, renal denervation and nephrectomy that can target pain produced by renal or hepatic cysts. Chronic pain in patients with autosomal dominant polycystic kidney disease is often refractory to conservative, medical and other noninvasive treatments
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Fast Reduction Method in Dominance-Based Information Systems
Li, Yan; Zhou, Qinghua; Wen, Yongchuan
2018-01-01
In real world applications, there are often some data with continuous values or preference-ordered values. Rough sets based on dominance relations can effectively deal with these kinds of data. Attribute reduction can be done in the framework of dominance-relation based approach to better extract decision rules. However, the computational cost of the dominance classes greatly affects the efficiency of attribute reduction and rule extraction. This paper presents an efficient method of computing dominance classes, and further compares it with traditional method with increasing attributes and samples. Experiments on UCI data sets show that the proposed algorithm obviously improves the efficiency of the traditional method, especially for large-scale data.
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Sibling rivalry: training effects, emergence of dominance and incomplete control.
Benhaiem, Sarah; Hofer, Heribert; Kramer-Schadt, Stephanie; Brunner, Edgar; East, Marion L
2012-09-22
Within-brood or -litter dominance provides fitness-related benefits if dominant siblings selfishly skew access to food provided by parents in their favour. Models of facultative siblicide assume that dominants exert complete control over their subordinate sibling's access to food and that control is maintained, irrespective of the subordinate's hunger level. By contrast, a recent functional hypothesis suggests that subordinates should contest access to food when the cost of not doing so is high. Here, we show that within spotted hyena (Crocuta crocuta) twin litters, dominants most effectively skew access to maternal milk in their favour when their aggression prompts a highly submissive response. When hungry, subordinates were less submissive in response to aggression, thereby decreasing lost suckling time and increasing suckling time lost by dominants. In a species where adult females socially dominate adult males, juvenile females were more often dominant than males in mixed-sex litters, and subordinate sisters used more effective counter-tactics against dominant brothers than subordinate brothers against dominant sisters. Our results provide, to our knowledge, the first evidence in a mammal that dominant offspring in twin litters do not exert complete control over their sibling's access to resources (milk), and that sibling dominance relationships are influenced by sibling sex and training effects.
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Bulk viscous matter-dominated Universes: asymptotic properties
Energy Technology Data Exchange (ETDEWEB)
Avelino, Arturo [Departamento de Física, Campus León, Universidad de Guanajuato, León, Guanajuato (Mexico); García-Salcedo, Ricardo [Centro de Investigacion en Ciencia Aplicada y Tecnologia Avanzada - Legaria del IPN, México D.F. (Mexico); Gonzalez, Tame [Departamento de Ingeniería Civil, División de Ingeniería, Universidad de Guanajuato, Guanajuato (Mexico); Nucamendi, Ulises [Instituto de Física y Matemáticas, Universidad Michoacana de San Nicolás de Hidalgo, Edificio C-3, Ciudad Universitaria, CP. 58040 Morelia, Michoacán (Mexico); Quiros, Israel, E-mail: avelino@fisica.ugto.mx, E-mail: rigarcias@ipn.mx, E-mail: tamegc72@gmail.com, E-mail: ulises@ifm.umich.mx, E-mail: iquiros6403@gmail.com [Departamento de Matemáticas, Centro Universitario de Ciencias Exactas e Ingenierías (CUCEI), Corregidora 500 S.R., Universidad de Guadalajara, 44420 Guadalajara, Jalisco (Mexico)
2013-08-01
By means of a combined use of the type Ia supernovae and H(z) data tests, together with the study of the asymptotic properties in the equivalent phase space — through the use of the dynamical systems tools — we demonstrate that the bulk viscous matter-dominated scenario is not a good model to explain the accepted cosmological paradigm, at least, under the parametrization of bulk viscosity considered in this paper. The main objection against such scenarios is the absence of conventional radiation and matter-dominated critical points in the phase space of the model. This entails that radiation and matter dominance are not generic solutions of the cosmological equations, so that these stages can be implemented only by means of unique and very specific initial conditions, i. e., of very unstable particular solutions. Such a behavior is in marked contradiction with the accepted cosmological paradigm which requires of an earlier stage dominated by relativistic species, followed by a period of conventional non-relativistic matter domination, during which the cosmic structure we see was formed. Also, we found that the bulk viscosity is positive just until very late times in the cosmic evolution, around z < 1. For earlier epochs it is negative, been in tension with the local second law of thermodynamics.
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Directory of Open Access Journals (Sweden)
Arda Kovanlıkaya
2010-01-01
Full Text Available This study was conducted to evaluate effects of calcium propionate on hypocalcemia, dry matter intake, body condition score, milk production and reproductive disorders in dairy cows. Twenty four multiparous Holstein cows were sorted by parity, body condition score (BCS in close-up period and season of calving and assigned to one of the three treatments. The cows in treatment 1 (T1 received two drenches at calving and 24h after calving. The cows in treatment 2 (T2 received three drenches at calving, 24h after calving and 7 days after calving. The cows in treatment 3 (T3 were the control. Each drench contained 143g of calcium as calcium propionate (0.68kg. Parameters studied were serum calcium, glucose and nonesterified fatty acid (NEFA concentrations, dry matter intake (DMI, BCS, milk production (MP, incidence of retained placenta (RP and metritis. Milk fever developed in 5 of 8 cows, in 3 of 8 cows and in 3 of 8 cows in T1, T2 and T3, respectively, at calving. There was no cow with milk fever in T1 and T2 at 4h after second drench (about 28h after calving but 3 of 8 cows in T3 had still milk fever at this time. The cows receiving two drenches recovered from milk fever in a shorter term as compared to the cows in T3. There were no differences among treatments for DMI, BCS, MP, RP, serum glucose and NEFA concentrations during the experimental period. There was no difference for metritis between T1 and T3 but incidence of metritis in T2 was significantly lower as compared to T3 (P<0.05. Two drenches of calcium propionate were beneficial in treating milk fever and three drenches of calcium propionate were considered to have had a preventive effect for metritis.
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Directory of Open Access Journals (Sweden)
Bahareh Zeynalzadeh Ghoochani
2017-06-01
Discussion: Standing on non-dominant leg is a challenging task that requires a well-balanced system to survive the primary decreased somatosensory input. Therefore, the examinee had to have the requisite capabilities to cope with the changes caused when extra manipulation was included. During the course of the study, the most challenging situation was encountered when the subjects were standing on their non-dominant leg with eyes shut, which should be exactingly checked not to create a risky point as an Achilles’ heel of balance system. It was observed that the non-dominant leg was more susceptible to be affected when an aging adult did not have access to the visual input or during performing dual tasks with eyes shut. It is thus recommended that such conditions should be included in balance assessment tests or interventions.
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Neurologic sequelae associated with foscarnet therapy.
Lor, E; Liu, Y Q
1994-09-01
To report three cases of possible foscarnet-induced neurologic sequelae. We report two cases of seizures and one case of hand cramping and finger paresthesia after starting foscarnet therapy with no evidence of predisposing risk factors, such as serum laboratory abnormalities, renal dysfunction, or known central nervous system (CNS) involvement. All three patients had stable laboratory values during therapy and when the neurologic adverse effects occurred. All patients were receiving appropriate dosages of foscarnet. The incidence of seizures in AIDS patients was reviewed. A history of CNS lesions, infections, and/or AIDS per se may increase the risk of a neurologic adverse effect while receiving foscarnet therapy. Acute ionized hypocalcemia may cause these neurologic adverse effects. Ionized hypocalcemia is transitory, is related to the rate of foscarnet infusion, and may not be reflected as a change in total serum calcium concentration. Foscarnet probably contributed to the neurologic adverse effects reported here. Foscarnet may need to be administered at a slower rate than is recommended by the manufacturer. Electrolytes must be monitored closely; however, a neurologic adverse effect may not be foreseen.
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Trender-Gerhard , Iris; Sweeney , Mary G; Schwingenschuh , Petra; Mir , Pablo; Edwards , Mark J; Gerhard , Alexander; Polke , James M; Hanna , Mike G; Davis , Mary B; Wood , Nick W; Bhatia , Kailash P
2009-01-01
Abstract An autosomal dominantly inherited defect in the GCH1 gene that encodes guanosine triphosphate cyclohydrolase 1 (GTPCH1) is the most common cause of dopa-responsive dystonia (DRD). A classic phenotype of young-onset lower limb dystonia, diurnal fluctuations, and excellent response to levodopa has been well recognized in association with GCH1 mutations, and rare atypical presentations have been reported. However, a number of clinical issues remain unresolved including phenot...
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Nanba, Kazutaka; Usui, Takeshi; Nakamura, Michikazu; Toyota, Yuko; Hirota, Keisho; Tamanaha, Tamiko; Kawashima, Sachiko-Tsukamoto; Nakao, Kanako; Yuno, Akiko; Tagami, Tetsuya; Naruse, Mitsuhide; Shimatsu, Akira
2013-01-01
Hypoparathyroidism, deafness, and renal dysplasia (HDR) syndrome is an autosomal dominant disorder caused by a GATA3 gene mutation. Here we report a novel mutation of GATA3 in a patient diagnosed with HDR syndrome at the age of 58 with extensive intracranial calcification. A 58-year-old Japanese man showed severe hypocalcemia and marked calcification in the basal ganglia, cerebellum, deep white matter, and gray-white junction on computed tomography (CT). The serum intact parathyroid hormone level was relatively low against low serum calcium concentration. The patient had been diagnosed with bilateral sensorineural deafness in childhood and had a family history of hearing disorders. Imaging studies revealed no renal anomalies. The patient was diagnosed with HDR syndrome, and genetic testing was performed. Genetic analysis of GATA3 showed a novel nonsense mutation at codon 198 (S198X) in exon 3. The S198X mutation leads to a loss of two zinc finger deoxyribonucleic acid (DNA) binding domains and is considered to be responsible for HDR syndrome. We identified a novel nonsense mutation of GATA3 in an adult patient with HDR syndrome who showed extensive intracranial calcification.
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Unusual Complication of Multidrug Resistant Tuberculosis
Directory of Open Access Journals (Sweden)
Prerna Sharma
2017-01-01
Full Text Available Introduction. Capreomycin is a second-line drug often used for multidrug-resistant tuberculosis which can result in nephrotoxic effects similar to other aminoglycosides. We describe a case of capreomycin induced Bartter-like syndrome with hypocalcemic tetany. Case Report. 23-year-old female patient presented with carpopedal spasms and tingling sensations in hands. Patient was being treated with capreomycin for two months for tuberculosis. On further investigation, hypocalcemia, hyponatremia, hypomagnesemia, hypokalemia, and hypochloremic metabolic alkalosis were noted. Vitamin D and serum PTH levels were within normal limits. Hypercalciuria was confirmed by urine calcium/creatinine ratio. Calcium, potassium, and magnesium supplementation was given and capreomycin was discontinued. Electrolytes normalized in two days after cessation of capreomycin with no further abnormalities on repeat investigations. Discussion. Aminoglycosides can result in renal tubular dysfunction leading to Fanconi syndrome, Bartter syndrome, and distal tubular acidosis. Impaired mitochondrial function in the tubular cells has been hypothesized as the possible cause of these tubulopathies. Acquired Bartter-like syndrome phenotypically resembles autosomal dominant type 5 Bartter syndrome. Treatment consists of correction of electrolyte abnormalities, indomethacin, and potassium-sparing diuretics. Prompt diagnosis and treatment of severe dyselectrolytemia are warranted in patients on aminoglycoside therapy.
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Almost stochastic dominance for poverty level in Central Java Province
Slamet, Isnandar; Agus Wibowo, Aryanto; Roswitha, Mania
2017-12-01
The criteria for the domination of the distribution function has been used in the investment issues, momentum, agricultural production, and so on. One criteria of domination is stochastic dominance (SD). When this criteria is applied to the dominating area that has smaller value than the dominated area, then almost stochastic dominance (ASD) can be used. It this research, we apply the ASD criteria on data of expenditure per capita based on districts/cities in Central Java. Furthermore, we determine which year the expenditure per capita in the period 2009-2013 is the most dominating to know the level of poverty in Central Java. From the discussion, it can be concluded that the expenditure per capita in Central Java in 2013 dominates expenditure per capita in Central Java in 2009-2012. In other words, the level of poverty in Central Java in 2013 is lower than in 2009-2012.
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A possible dominant white gene in Jersey cattle
Directory of Open Access Journals (Sweden)
Sponenberg D Phillip
2001-01-01
Full Text Available Abstract A white heifer ("Snow" was born in 1991 from coloured registered Jersey parents. She produced six calves sired by coloured Jersey bulls: three white bull calves, two white heifer calves, and one coloured bull calf. One of the white bull calves was mated with 40 Hereford × Friesian yearling heifers (white face, predominantly black body with some white patches. The 38 resulting calves included 16 white and 22 coloured calves. Twelve of the 16 white calves were heifers and four were bulls. Red or black spotting was recorded on some white calves. The results are consistent with an autosomal dominant mutant causing the white phenotype. The mutation appears to have arisen spontaneously in Snow, then passing to her white progeny and white grand-progeny. The white individuals varied from entirely white in a few cases, to most having some residual small areas of red or black pigmentation in patterns not typical of other reported white spotting patterns of cattle.
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Roubroeks, M. A. J.; Ham, J. R. C.; Midden, C. J. H.
Persuasive technology can take the form of a social agent that persuades people to change behavior or attitudes. However, like any persuasive technology, persuasive social agents might trigger psychological reactance, which can lead to restoration behavior. The current study investigated whether interacting with a persuasive robot can cause psychological reactance. Additionally, we investigated whether goal congruency plays a role in psychological reactance. Participants programmed a washing machine while a robot gave threatening advice. Confirming expectations, participants experienced more psychological reactance when receiving high-threatening advice compared to low-threatening advice. Moreover, when the robot gave high-threatening advice and expressed an incongruent goal, participants reported the highest level of psychological reactance (on an anger measure). Finally, high-threatening advice led to more restoration, and this relationship was partially mediated by psychological reactance. Overall, results imply that under certain circumstances persuasive technology can trigger opposite effects, especially when people have incongruent goal intentions.
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Proteus syndrome: A rare cause of gigantic limb
Nandini Chakrabarti; Chandan Chattopadhyay; Majhi Bhuban; Salil Kumar Pal
2014-01-01
A congenital disorder with variable manifestations, including partial gigantism of the hands and feet with hypertrophy of soles, nevi, hemihypertrophy, gynecomastia, macrocephaly and other skull abnormalities, and abdominal lipomatosis. The cause is unknown, although a genetic origin, generally of autosomal-dominant transmission, has been conjectured. Symptoms can be treated, but there is no known cure. We present the case of a young male with grotesque overgrowth of the right lower limb, spl...
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Autosomal-dominant non-autoimmune hyperthyroidism presenting with neuromuscular symptoms.
Elgadi, Aziz; Arvidsson, C-G; Janson, Annika; Marcus, Claude; Costagliola, Sabine; Norgren, Svante
2005-08-01
Neuromuscular presentations are common in thyroid disease, although the mechanism is unclear. In the present study, we investigated the pathogenesis in a boy with autosomal-dominant hyperthyroidism presenting with neuromuscular symptoms. The TSHr gene was investigated by direct sequencing. Functional properties of the mutant TSHr were investigated during transient expression in COS-7 cells. Family members were investigated by clinical and biochemical examinations. Sequence analysis revealed a previously reported heterozygous missense mutation Glycine 431 for Serine in the first transmembrane segment, leading to an increased specific constitutive activity. Three additional affected family members carried the same mutation. There was no indication of autoimmune disorder. All symptoms disappeared upon treatment with thacapzol and L-thyroxine and subsequent subtotal thyroidectomy. The data imply that neuromuscular symptoms can be caused by excessive thyroid hormone levels rather than by autoimmunity.
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Complete staghorn calculus in polycystic kidney disease: infection is still the cause.
Mao, Zhiguo; Xu, Jing; Ye, Chaoyang; Chen, Dongping; Mei, Changlin
2013-08-01
Kidney stones in patients with autosomal dominant polycystic kidney disease are common, regarded as the consequence of the combination of anatomic abnormality and metabolic risk factors. However, complete staghorn calculus is rare in polycystic kidney disease and predicts a gloomy prognosis of kidney. For general population, recent data showed metabolic factors were the dominant causes for staghorn calculus, but for polycystic kidney disease patients, the cause for staghorn calculus remained elusive. We report a case of complete staghorm calculus in a polycystic kidney disease patient induced by repeatedly urinary tract infections. This 37-year-old autosomal dominant polycystic kidney disease female with positive family history was admitted in this hospital for repeatedly upper urinary tract infection for 3 years. CT scan revealed the existence of a complete staghorn calculus in her right kidney, while there was no kidney stone 3 years before, and the urinary stone component analysis showed the composition of calculus was magnesium ammonium phosphate. UTI is an important complication for polycystic kidney disease and will facilitate the formation of staghorn calculi. As staghorn calculi are associated with kidney fibrosis and high long-term renal deterioration rate, prompt control of urinary tract infection in polycystic kidney disease patient will be beneficial in preventing staghorn calculus formation.
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Opposite cerebral dominance for reading and sign language
Komakula, Sirisha. T.; Burr, Robert. B.; Lee, James N.; Anderson, Jeffrey
2010-01-01
We present a case of right hemispheric dominance for sign language but left hemispheric dominance for reading, in a left-handed deaf patient with epilepsy and left mesial temporal sclerosis. Atypical language laterality for ASL was determined by preoperative fMRI, and congruent with ASL modified WADA testing. We conclude that reading and sign language can have crossed dominance and preoperative fMRI evaluation of deaf patients should include both reading and sign language evaluations.
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Genetic and Dynamic Analyses of Murine Peak Bone Density
1999-10-01
bone density in mice. Femurs from young adult B6, C3H, and CAST females at 4 months of age were measured by pQCT (XCT-960M, Norland Med Sys., Ft...progenitor strains - B6, C3H, and CAST - showed that adult skeletal peak BMD was established at 4 months. Therefore, F2 mice were necropsied at 4...calcium depletion causes hypocalcemia , which leads to secondary hyperparathyroidism, subsequently resulting in increased bone resorption. Conversely
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Dominant mutations in KAT6A cause intellectual disability with recognizable syndromic features.
Tham, Emma; Lindstrand, Anna; Santani, Avni; Malmgren, Helena; Nesbitt, Addie; Dubbs, Holly A; Zackai, Elaine H; Parker, Michael J; Millan, Francisca; Rosenbaum, Kenneth; Wilson, Golder N; Nordgren, Ann
2015-03-05
Through a multi-center collaboration study, we here report six individuals from five unrelated families, with mutations in KAT6A/MOZ detected by whole-exome sequencing. All five different de novo heterozygous truncating mutations were located in the C-terminal transactivation domain of KAT6A: NM_001099412.1: c.3116_3117 delCT, p.(Ser1039∗); c.3830_3831insTT, p.(Arg1278Serfs∗17); c.3879 dupA, p.(Glu1294Argfs∗19); c.4108G>T p.(Glu1370∗) and c.4292 dupT, p.(Leu1431Phefs∗8). An additional subject with a 0.23 MB microdeletion including the entire KAT6A reading frame was identified with genome-wide array comparative genomic hybridization. Finally, by detailed clinical characterization we provide evidence that heterozygous mutations in KAT6A cause a distinct intellectual disability syndrome. The common phenotype includes hypotonia, intellectual disability, early feeding and oromotor difficulties, microcephaly and/or craniosynostosis, and cardiac defects in combination with subtle facial features such as bitemporal narrowing, broad nasal tip, thin upper lip, posteriorly rotated or low-set ears, and microretrognathia. The identification of human subjects complements previous work from mice and zebrafish where knockouts of Kat6a/kat6a lead to developmental defects. Copyright © 2015 The American Society of Human Genetics. Published by Elsevier Inc. All rights reserved.
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Hopkins, Paul N.; Defesche, Joep; Fouchier, Sigrid W.; Bruckert, Eric; Luc, Gérald; Cariou, Bertrand; Sjouke, Barbara; Leren, Trond P.; Harada-Shiba, Mariko; Mabuchi, Hiroshi; Rabès, Jean-Pierre; Carrié, Alain; van Heyningen, Charles; Carreau, Valérie; Farnier, Michel; Teoh, Yee P.; Bourbon, Mafalda; Kawashiri, Masa-Aki; Nohara, Atsushi; Soran, Handrean; Marais, A. David; Tada, Hayato; Abifadel, Marianne; Boileau, Catherine; Chanu, Bernard; Katsuda, Shoji; Kishimoto, Ichiro; Lambert, Gilles; Makino, Hisashi; Miyamoto, Yoshihiro; Pichelin, Matthieu; Yagi, Kunimasa; Yamagishi, Masakazu; Zair, Yassine; Mellis, Scott; Yancopoulos, George D.; Stahl, Neil; Mendoza, Johanna; Du, Yunling; Hamon, Sara; Krempf, Michel; Swergold, Gary D.
2015-01-01
Background Patients with PCSK9 gene gain of function (GOF) mutations have a rare form of autosomal dominant hypercholesterolemia. However, data examining their clinical characteristics and geographic distribution are lacking. Furthermore, no randomized treatment study in this population has been
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Behavioral and social cognitive processes in preschool children's social dominance.
Pellegrini, Anthony D; Van Ryzin, Mark J; Roseth, Cary; Bohn-Gettler, Catherine; Dupuis, Danielle; Hickey, Meghan; Peshkam, Annie
2011-01-01
This longitudinal, naturalistic study addressed behavioral and social cognitive processes implicated in preschool children's social dominance. In the first objective, we examined the degree to which peer aggression, affiliation, and postaggression reconciliation predicted social dominance across a school year. Consistent with predictions, all three predicted dominance early in the year while only affiliation predicted dominance later in the year, suggesting that aggression, affiliation, and reconciliation were used to establish social dominance where affiliation was used to maintain it. In the second, exploratory, objective we tested the relative importance of social dominance and reconciliation (the Machiavellian and Vygotskian intelligence hypotheses, respectively) in predicting theory of mind/false belief. Results indicated that social dominance accounted for significant variance, beyond that related to reconciliation and affiliation, in predicting theory of mind/false belief status. Results are discussed in terms of specific behavioral and social cognitive processes employed in establishing and maintaining social dominance. © 2011 Wiley-Liss, Inc.
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Axonal neuropathy with optic atrophy is caused by mutations in mitofusin 2
Züchner, Stephan; de Jonghe, Peter; Jordanova, Albena; Claeys, Kristl G.; Guergueltcheva, Velina; Cherninkova, Sylvia; Hamilton, Steven R.; van Stavern, Greg; Krajewski, Karen M.; Stajich, Jeffery; Tournev, Ivajlo; Verhoeven, Kristien; Langerhorst, Christine T.; de Visser, Marianne; Baas, Frank; Bird, Thomas; Timmerman, Vincent; Shy, Michael; Vance, Jeffery M.
2006-01-01
OBJECTIVE: Charcot-Marie-Tooth (CMT) neuropathy with visual impairment due to optic atrophy has been designated as hereditary motor and sensory neuropathy type VI (HMSN VI). Reports of affected families have indicated autosomal dominant and recessive forms, but the genetic cause of this disease has
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Further delineation of the KBG syndrome phenotype caused by ANKRD11 aberrations
Ockeloen, Charlotte W.; Willemsen, Marjolein H.; De Munnik, Sonja; Van Bon, Bregje W M; De Leeuw, Nicole; Verrips, Aad; Kant, Sarina G.; Jones, Elizabeth A.; Brunner, Han G.; Van Loon, Rosa L E; Smeets, Eric E J; Van Haelst, Mieke M.; Van Haaften, Gijs; Nordgren, Ann; Malmgren, Helena; Grigelioniene, Giedre; Vermeer, Sascha; Louro, Pedro; Ramos, Lina; Maal, Thomas J J; Van Heumen, Celeste C.; Yntema, Helger G.; Carels, Carine E L; Kleefstra, Tjitske
2015-01-01
Loss-of-function variants in ANKRD11 were identified as the cause of KBG syndrome, an autosomal dominant syndrome with specific dental, neurobehavioural, craniofacial and skeletal anomalies. We present the largest cohort of KBG syndrome cases confirmed by ANKRD11 variants reported so far, consisting
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Further delineation of the KBG syndrome phenotype caused by ANKRD11 aberrations
C. Ockeloen (Charlotte); M.H. Willemsen; S. de Munnik (Sonja); B. van Bon (Bregje); N. de Leeuw (Nicole); A. Verrips (Aad); S.G. Kant (Sarina); E.A. Jones (Elizabeth A.); H.G. Brunner; R.L.E. Van Loon (Rosa); E.E.J. Smeets (Eric E.J.); M.M. van Haelst (Mieke); G. van Haaften (Gijs); A. Nordgren (Ann); H. Malmgren (Helena); G. Grigelioniene (Giedre); S.E. Vermeer (Sarah); P. Louro (Pedro); L. Ramos (Lina); T.J.J. Maal (Thomas J.J.); C.C.M. van Heumen (Céleste); H.G. Yntema; C.E.L. Carels (Carine); T. Kleefstra (Tjitske)
2015-01-01
textabstractLoss-of-function variants in ANKRD11 were identified as the cause of KBG syndrome, an autosomal dominant syndrome with specific dental, neurobehavioural, craniofacial and skeletal anomalies. We present the largest cohort of KBG syndrome cases confirmed by ANKRD11 variants reported so
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Increasing Water Temperature Triggers Dominance of Small Freshwater Plankton.
Directory of Open Access Journals (Sweden)
Serena Rasconi
Full Text Available Climate change scenarios predict that lake water temperatures will increase up to 4°C and rainfall events will become more intense and frequent by the end of this century. Concurrently, supply of humic substances from terrestrial runoff is expected to increase, resulting in darker watercolor ("brownification" of aquatic ecosystems. Using a multi-seasonal, low trophic state mesocosm experiment, we investigated how higher water temperature and brownification affect plankton community composition, phenology, and functioning. We tested the hypothesis that higher water temperature (+3°C and brownification will, a cause plankton community composition to shift toward small sized phytoplankton and cyanobacteria, and, b extend the length of the growing season entailing higher phytoplankton production later in the season. We demonstrate that the 3°C increase of water temperature favored the growth of heterotrophic bacteria and small sized autotrophic picophytoplankton cells with significantly higher primary production during warmer fall periods. However, 3X darker water (effect of brownification caused no significant changes in the plankton community composition or functioning relative to control conditions. Our findings reveal that increased temperature change plankton community structure by favoring smaller sized species proliferation (autotrophic phytoplankton and small size cladocerans, and increase primary productivity and community turnover. Finally, results of this multi-seasonal experiment suggest that warming by 3°C in aquatic ecosystems of low trophic state may cause planktonic food web functioning to become more dominated by fast growing, r-trait species (i.e., small sizes and rapid development.
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Shinkuma, Satoru; Guo, Zongyou; Christiano, Angela M
2016-05-17
Genome editing with engineered site-specific endonucleases involves nonhomologous end-joining, leading to reading frame disruption. The approach is applicable to dominant negative disorders, which can be treated simply by knocking out the mutant allele, while leaving the normal allele intact. We applied this strategy to dominant dystrophic epidermolysis bullosa (DDEB), which is caused by a dominant negative mutation in the COL7A1 gene encoding type VII collagen (COL7). We performed genome editing with TALENs and CRISPR/Cas9 targeting the mutation, c.8068_8084delinsGA. We then cotransfected Cas9 and guide RNA expression vectors expressed with GFP and DsRed, respectively, into induced pluripotent stem cells (iPSCs) generated from DDEB fibroblasts. After sorting, 90% of the iPSCs were edited, and we selected four gene-edited iPSC lines for further study. These iPSCs were differentiated into keratinocytes and fibroblasts secreting COL7. RT-PCR and Western blot analyses revealed gene-edited COL7 with frameshift mutations degraded at the protein level. In addition, we confirmed that the gene-edited truncated COL7 could neither associate with normal COL7 nor undergo triple helix formation. Our data establish the feasibility of mutation site-specific genome editing in dominant negative disorders.
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Smith, Harley M; Samach, Alon
2013-06-01
Farmers lack effective methods to achieve and maintain stable production from year to year in many commercial fruit crops. Annual fruit yield within a region often alternates between high and low fruit load and is termed alternate bearing. The underlying cause of alternate bearing is the negative impact of high fruit load on vegetative growth and next year's flowering. In this review, we emphasize common responses of diverse perennials to heavy crop load. We present botanical, ecological and horticultural perspectives on irregular bearing. The later part of this review focuses on understanding how high fruit load dominates over vegetative growth. We discuss sink strengths and putative mobile signals (hormones), perhaps seed-derived. We highlight gaps in current understanding of alternate bearing, and discuss new approaches to better understand fruit load dominance. Assuming the effect of high fruit load may be related to other mechanisms of sink partitioning, other forms of dominance are presented such as apical, first fruit and king fruit dominance. Dominance seems to be enforced, in independent cases through the establishment of a polar auxin transport system from the stronger sink. Once established this somehow perturbs the transport of auxin out of weaker sinks. Possibly, fruit derived auxin may alter the polar auxin transport system of the shoot to inhibit shoot growth. Copyright © 2013 Elsevier Ireland Ltd. All rights reserved.
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Bestsellers dominate the market
Energy Technology Data Exchange (ETDEWEB)
Koenemann, Detlef
2010-07-01
The strong market growth of the past years has led to certain turbine types achieving very high numbers of units sold. As a result, the leading manufacturers are becoming ever more dominant, and many smaller manufacturers are beng required to seek their success in market niches. (orig.)
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Directory of Open Access Journals (Sweden)
Luiz Felipe Gonçalves Fernandes
2013-06-01
Full Text Available Besides exacerbated exploitation, pollution, flow alteration and habitats degradation, freshwater biodiversity is also threatened by biological invasions. This paper addresses how native aquatic macrophyte communities are affected by the non-native species Urochloa arrecta, a current successful invader in Brazilian freshwater systems. We compared the native macrophytes colonizing patches dominated and non-dominated by this invader species. We surveyed eight streams in Northwest Paraná State (Brazil. In each stream, we recorded native macrophytes' richness and biomass in sites where U. arrecta was dominant and in sites where it was not dominant or absent. No native species were found in seven, out of the eight investigated sites where U. arrecta was dominant. Thus, we found higher native species richness, Shannon index and native biomass values in sites without dominance of U. arrecta than in sites dominated by this invader. Although difficult to conclude about causes of such differences, we infer that the elevated biomass production by this grass might be the primary reason for alterations in invaded environments and for the consequent impacts on macrophytes' native communities. However, biotic resistance offered by native richer sites could be an alternative explanation for our results. To mitigate potential impacts and to prevent future environmental perturbations, we propose mechanical removal of the invasive species and maintenance or restoration of riparian vegetation, for freshwater ecosystems have vital importance for the maintenance of ecological services and biodiversity and should be preserved.
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Dependence of Core and Extended Flux on Core Dominance ...
Indian Academy of Sciences (India)
Abstract. Based on two extragalactic radio source samples, the core dominance parameter is calculated, and the correlations between the core/extended flux density and core dominance parameter are investi- gated. When the core dominance parameter is lower than unity, it is linearly correlated with the core flux density, ...
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Behavioral Profile Predicts Dominance Status in Mountain Chickadees.
Fox, Rebecca A; Ladage, Lara D; Roth, Timothy C; Pravosudov, Vladimir V
2009-06-01
Individual variation in stable behavioral traits may explain variation in ecologically-relevant behaviors such as foraging, dispersal, anti-predator behavior, and dominance. We investigated behavioral variation in mountain chickadees (Poecile gambeli), a North American parid that lives in dominance-structured winter flocks, using two common measures of behavioral profile: exploration of a novel room and novel object exploration. We related those behavioral traits to dominance status in male chickadees following brief, pair-wise encounters. Low-exploring birds (birds that visited less than four locations in the novel room) were significantly more likely to become dominant in brief, pairwise encounters with high-exploring birds (i.e., birds that visited all perching locations within a novel room). On the other hand, there was no relationship between novel object exploration and dominance. Interestingly, novel room exploration was also not correlated with novel object exploration. These results suggest that behavioral profile may predict the social status of group-living individuals. Moreover, our results contradict the idea that novel object exploration and novel room exploration are always interchangeable measures of individuals' sensitivity to environmental novelty.
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Essential thrombocythemia: Rare cause of chorea
Directory of Open Access Journals (Sweden)
Eswaradass Prasanna Venkatesan
2014-01-01
Full Text Available Essential thrombocythemia (ET is a clonal myeloproliferative disorder (MPD, characterized predominantly by a markedly elevated platelet count without known cause. It is rare hematological disorder. In ET clinical picture is dominated by a predisposition to vascular occlusive events and hemorrhages. Headache, transient ischemic attack, stroke, visual disturbances and light headedness are some of the neurological manifestations of ET. Here, we describe a 55 year-old female who presented to us with generalized chorea. On evaluation, she was found to have thrombocytosis. After ruling out the secondary causes of thrombocytosis and other MPD we confirmed diagnosis of ET in her by bone marrow studies. Polycythemia vera (PV another MPD closely related to ET may be present with generalized chorea. There are few case reports of PV presenting as chorea in the literature, but none with ET. We report the first case of ET presenting as generalized chorea.
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Hypothalamic digoxin, hemispheric chemical dominance, and peptic ulcer disease.
Kurup, Ravi Kumar; Kurup, Parameswara Achutha
2003-10-01
The isoprenoid pathway produces three key metabolites--endogenous digoxin-like factor (EDLF) (membrane sodium-potassium ATPase inhibitor and regulator of neurotransmitter transport), ubiquinone (free radical scavenger), and dolichol (regulator of glycoconjugate metabolism). The pathway was assessed in peptic ulcer and acid peptic disease and its relation to hemispheric dominance studied. The activity of HMG CoA reductase, serum levels of EDLF, magnesium, tryptophan catabolites, and tyrosine catabolites were measured in acid peptic disease, right hemispheric dominant, left hemispheric dominant, and bihemispheric dominant individuals. All the patients with peptic ulcer disease were right-handed/left hemispheric dominant by the dichotic listening test. The pathway was upregulated with increased EDLF synthesis in peptic ulcer disease (PUD). There was increase in tryptophan catabolites and reduction in tyrosine catabolites in these patients. The ubiquinone levels were low and free radical production increased. Dolichol and glycoconjugate levels were increased and lysosomal stability reduced in patients with acid peptic disease (APD). There was increase in cholesterol:phospholipid ratio with decreased glyco conjugate levels in membranes of patients with PUD. Acid peptic disease represents an elevated EDLF state which can modulate gastric acid secretion and the structure of the gastric mucous barrier. It can also lead to persistence of Helicobacter pylori infection. The biochemical pattern obtained in peptic ulcer disease is similar to those obtained in left-handed/right hemispheric chemically dominant individuals. But all the patients with peptic ulcer disease were right-handed/left hemispheric dominant by the dichotic listen ing test. Hemispheric chemical dominance has no correlation with handedness or the dichotic listening test. Peptic ulcer disease occurs in right hemispheric chemically dominant individuals and is a reflection of altered brain function.
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Photosynthesis in Hydrogen-Dominated Atmospheres
Bains, William; Seager, Sara; Zsom, Andras
2014-01-01
The diversity of extrasolar planets discovered in the last decade shows that we should not be constrained to look for life in environments similar to early or present-day Earth. Super-Earth exoplanets are being discovered with increasing frequency, and some will be able to retain a stable, hydrogen-dominated atmosphere. We explore the possibilities for photosynthesis on a rocky planet with a thin H2-dominated atmosphere. If a rocky, H2-dominated planet harbors life, then that life is likely to convert atmospheric carbon into methane. Outgassing may also build an atmosphere in which methane is the principal carbon species. We describe the possible chemical routes for photosynthesis starting from methane and show that less energy and lower energy photons could drive CH4-based photosynthesis as compared with CO2-based photosynthesis. We find that a by-product biosignature gas is likely to be H2, which is not distinct from the hydrogen already present in the environment. Ammonia is a potential biosignature gas of hydrogenic photosynthesis that is unlikely to be generated abiologically. We suggest that the evolution of methane-based photosynthesis is at least as likely as the evolution of anoxygenic photosynthesis on Earth and may support the evolution of complex life. PMID:25411926
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Photosynthesis in Hydrogen-Dominated Atmospheres
Directory of Open Access Journals (Sweden)
William Bains
2014-11-01
Full Text Available The diversity of extrasolar planets discovered in the last decade shows that we should not be constrained to look for life in environments similar to early or present-day Earth. Super-Earth exoplanets are being discovered with increasing frequency, and some will be able to retain a stable, hydrogen-dominated atmosphere. We explore the possibilities for photosynthesis on a rocky planet with a thin H2-dominated atmosphere. If a rocky, H2-dominated planet harbors life, then that life is likely to convert atmospheric carbon into methane. Outgassing may also build an atmosphere in which methane is the principal carbon species. We describe the possible chemical routes for photosynthesis starting from methane and show that less energy and lower energy photons could drive CH4-based photosynthesis as compared with CO2-based photosynthesis. We find that a by-product biosignature gas is likely to be H2, which is not distinct from the hydrogen already present in the environment. Ammonia is a potential biosignature gas of hydrogenic photosynthesis that is unlikely to be generated abiologically. We suggest that the evolution of methane-based photosynthesis is at least as likely as the evolution of anoxygenic photosynthesis on Earth and may support the evolution of complex life.
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Moll, Jorge; de Oliveira-Souza, Ricardo
2017-09-01
The concept of left hemispheric dominance for praxis, speech, and language has been one of the pillars of neurology since the mid-19th century. In 1906, Hermann Oppenheim reported a patient with bilateral stereoagnosia (astereognosis) caused by a left parietal lobe tumor and proposed that the left hemisphere was also dominant for stereognosis. Surprisingly, few cases of bilateral stereoagnosia caused by a unilateral cerebral lesion have been documented in the literature since then. Here we report a 75-year-old right-handed man who developed bilateral stereoagnosia after suffering a small infarct in the crown of the left postcentral gyrus. He could not recognize objects with either hand, but retained the ability to localize stimuli applied to the palm of his left (ipsilesional) hand. He was severely disabled in ordinary activities requiring the use of his hands. The lesion corresponded to Brodmann area 1, where probabilistic anatomic, functional, and electrophysiologic studies have located one of the multiple somatosensory representations of the hand. The lesion was in a strategic position to interrupt both the processing of afferent tactile information issuing from the primary somatosensory cortex (areas 3a and 3b) and the forward higher-order processing in area 2, the secondary sensory cortex, and the contralateral area 1. The lesion also deprived the motor hand area of its afferent regulation from the sensory hand area (grasping), while leaving intact the visuomotor projections from the occipital cortex (reaching). Our patient supports Oppenheim's proposal that the left postcentral gyrus of some individuals is dominant for stereognosis.
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Searching for world domination
Quillen, E
2004-01-01
"Optimists might believe Microsoft suffered a setback last week that will impede its progress toward world domination, but I suspect the company has already found a way to prevail. At issue before the European Union was Microsoft's bundling of its Windows Media Player with its operating system" (1 page)
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Woytowicz, Elizabeth J; Westlake, Kelly P; Whitall, Jill; Sainburg, Robert L
2018-05-09
Two contrasting views of handedness can be described as 1) complementary dominance, in which each hemisphere is specialized for different aspects of motor control, and 2) global dominance, in which the hemisphere contralateral to the dominant arm is specialized for all aspects of motor control. The present study sought to determine which motor lateralization hypothesis best predicts motor performance during common bilateral task of stabilizing an object (e.g. bread) with one hand while applying forces to the object (e.g. slicing) using the other hand. We designed an experimental equivalent of this task, performed in a virtual environment with the unseen arms supported by frictionless air-sleds. The hands were connected by a spring, and the task was to maintain the position of one hand, while moving the other hand to a target. Thus, the reaching hand was required to take account of the spring load to make smooth and accurate trajectories, while the stabilizer hand was required to impede the spring load to keep a constant position. Right-handed subjects performed two task sessions (right hand reach and left hand stabilize; left hand reach and right hand stabilize) with the order of the sessions counterbalanced between groups. Our results indicate a hand by task-component interaction, such that the right hand showed straighter reaching performance while the left showed more stable holding performance. These findings provide support for the complementary dominance hypothesis and suggest that the specializations of each cerebral hemisphere for impedance and dynamic control mechanisms are expressed during bilateral interactive tasks.
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Directory of Open Access Journals (Sweden)
Rudhi Pribadi
2014-06-01
Propagule predation on mangrove in some extent reduced its viability to grow into seedling. The predation could happened before (pre-dispersal or after (post-dispersal the propagule drop from the tree.The reasearch was conducted in Pasar Banggi, Rembang District, Central Java. The aim was to investigate the predation rate of Rhizophora mucronata Lamk., R. stylosa Griff. and R. apiculata Blume propagules pre-dispersal and post-dispersal. Firstly, preface experiment for find domination spesies in the location, Second, with applied descriptive-based survey sampling and field experiment methods. Than all propagules of five replication trees were harvested and checked for its condition on pre-dispersal step. The third, with post-dispersal study there were twenty propagules from each spesies and tied them with used nylon string and placed on the forest floor for 2 until 18 days and checked its condition every 2 days after placement. This study is also set for tested the Smith’s theory on propagule predation related to tree domination. Rhizophora stylosa propagule was most predated before they fall (mean 61,06%, range 45,40-76,05%, followed by R. apiculata (mean 58,18%, range 47,41-68% and the lowest isR. mucronata with mean 11,88% (range 7,06-15,71%. After 18 days of experiment in the field R. stylosa propagule in R. stylosa–dominated area was the lowest predated (mean 46,67% compared to propagule in the area dominated by R. apiculata (63,33% and also in R. mucronata area (83,33 Predated R. mucronata propagule is the highest in the R. mucronata dominated area (mean 95% compared with R. apiculata dominated area (mean 55% and also in R. stylosa dominated area (45%. Pradated of R. apiculata propagule is the lowest in the domination area of R. apiculata (50% compared with R. stylosa area domination with (mean 70% also R. mucronata (73,33%. The result showed that the theory of dominance-predation can be proved only for R. stylosa and R. apiculata spesies, but not for R
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The Issues in the Measurement of Bilingual Language Dominance.
Yeh, Mary C. L.
This paper deals with measurement of language dominance at the early-childhood level using a rating scale to help bilingual programs with student classification and placement. Some of the assumptions unique in the measurement of language dominance are discussed and applied to the validation procedure on a Spanish/English language dominance scale…
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Early prediction of oral calcium and vitamin D requirements in post-thyroidectomy hypocalcaemia.
Al-Dhahri, Saleh F; Mubasher, Mohamed; Al-Muhawas, Fida; Alessa, Mohammed; Terkawi, Rayan S; Terkawi, Abdullah S
2014-09-01
To optimize and individualize post-thyroidectomy hypocalcemia management. A multicenter prospective cohort study. Two tertiary care hospitals. parathyroid hormone (PTH) was measured preoperatively, then at 1 and 6 hours after surgery. The required doses of calcium and vitamin D were defined as those maintaining the patients asymptomatic and their cCa ≥ 2 mmol/L. They were used as an endpoint in a generalized linear mixed effect model (GLIMMEX) aiming to identify the best predictors of these optimal required doses. Models were evaluated by goodness of fit and Receiver Operating Characteristic (ROC) curves. One hundred and sixty-eight patients were analyzed; 85.1% were female, 49.3% had BMI > 30, and 64% had vitamin D deficiency. Post-thyroidectomy hypocalcemia was found in 25.6%, of whom 18 (41.9%) were symptomatic and received intravenous calcium. First hour percentage of drop in PTH correlated positively with the severity of hypocalcemia (P hypocalcemia by assisting in the early identification of those who are not at risk of hypocalcaemia and by guiding early effective management of those at risk. This may reduce complications and medical cost. © American Academy of Otolaryngology—Head and Neck Surgery Foundation 2014.
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Directory of Open Access Journals (Sweden)
Tonelli Adriano R
2007-12-01
Full Text Available Abstract Background The microdeletion of chromosome 22q11.2 is the most common human deletion syndrome. It typically presents early in life and is rarely considered in adult patients. As part of the manifestations of this condition, patients can have parathyroid glandular involvement ranging from hypocalcemic hypoparathyroidism to normocalcemia with normal parathryroid hormone levels. The first manifestation of the syndrome might be seizures due to profound hypocalcemia. Case presentation A 40-year-old man without significant past medical history presented with a new-onset generalized tonic-clonic seizure. He had no personal history of hypocalcemia or seizures. Physical examination was remarkable for short stature, hypertelorism, prominent forehead and nasal voice. His initial laboratory examination showed hypocalcemia (Calcium 5.2 mg/dl and Calcium ionized 0.69 mmol/l with hypoparathyroidism (Parathyroid hormone intact Conclusion Microdeletion of chromosome 22q11.2 is among the most clinically variable syndromes, with more than 180 features associated with the deletion. It has a variable phenotypical expression, requiring a high level of awareness for its early diagnosis. Seizures, related to marked hypocalcemia due to idiopathic hypoparathyroidism, might be the presenting feature in an adult patient with this syndrome.
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Genomic Model with Correlation Between Additive and Dominance Effects.
Xiang, Tao; Christensen, Ole Fredslund; Vitezica, Zulma Gladis; Legarra, Andres
2018-05-09
Dominance genetic effects are rarely included in pedigree-based genetic evaluation. With the availability of single nucleotide polymorphism markers and the development of genomic evaluation, estimates of dominance genetic effects have become feasible using genomic best linear unbiased prediction (GBLUP). Usually, studies involving additive and dominance genetic effects ignore possible relationships between them. It has been often suggested that the magnitude of functional additive and dominance effects at the quantitative trait loci are related, but there is no existing GBLUP-like approach accounting for such correlation. Wellmann and Bennewitz showed two ways of considering directional relationships between additive and dominance effects, which they estimated in a Bayesian framework. However, these relationships cannot be fitted at the level of individuals instead of loci in a mixed model and are not compatible with standard animal or plant breeding software. This comes from a fundamental ambiguity in assigning the reference allele at a given locus. We show that, if there has been selection, assigning the most frequent as the reference allele orients the correlation between functional additive and dominance effects. As a consequence, the most frequent reference allele is expected to have a positive value. We also demonstrate that selection creates negative covariance between genotypic additive and dominance genetic values. For parameter estimation, it is possible to use a combined additive and dominance relationship matrix computed from marker genotypes, and to use standard restricted maximum likelihood (REML) algorithms based on an equivalent model. Through a simulation study, we show that such correlations can easily be estimated by mixed model software and accuracy of prediction for genetic values is slightly improved if such correlations are used in GBLUP. However, a model assuming uncorrelated effects and fitting orthogonal breeding values and dominant
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Autosomal dominant hereditary ataxia in Sri Lanka
Sumathipala, Dulika S; Abeysekera, Gayan S; Jayasekara, Rohan W; Tallaksen, Chantal ME; Dissanayake, Vajira HW
2013-01-01
Background Spinocerebellar ataxias (SCA) are a group of hereditary neurodegenerative disorders. Prevalence of SCA subtypes differ worldwide. Autosomal dominant ataxias are the commonest types of inherited ataxias seen in Sri Lanka. The aim of the study is to determine the genetic etiology of patients with autosomal dominant ataxia in Sri Lanka and to describe the clinical features of each genetic subtype. Methods ...
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Hypothalamic digoxin, hemispheric chemical dominance, and interstitial lung disease.
Kurup, Ravi Kumar; Kurup, Parameswara Achutha
2003-10-01
The isoprenoid pathway produces three key metabolites--endogenous digoxin, dolichol, and ubiquinone. This was assessed in patients with idiopathic pulmonary fibrosis and in individuals of differing hemispheric dominance to find out the role of hemispheric dominance in the pathogenesis of idiopathic pulmonary fibrosis. All 15 cases of interstitial lung disease were right-handed/left hemispheric dominant by the dichotic listening test. The isoprenoidal metabolites--digoxin, dolichol, and ubiquinone, RBC membrane Na(+)-K+ ATPase activity, serum magnesium, tyrosine/tryptophan catabolic patterns, free radical metabolism, glycoconjugate metabolism, and RBC membrane composition--were assessed in idiopathic pulmonary fibrosis as well as in individuals with differing hemispheric dominance. In patients with idiopathic pulmonary fibrosis there was elevated digoxin synthesis, increased dolichol and glycoconjugate levels, and low ubiquinone and elevated free radical levels. There was also an increase in tryptophan catabolites and a reduction in tyrosine catabolites. There was an increase in cholesterol phospholipid ratio and a reduction in glycoconjugate level of RBC membrane in patients with idiopathic pulmonary fibrosis. Isoprenoid pathway dysfunction con tributes to the pathogenesis of idiopathic pulmonary fibrosis. The biochemical patterns obtained in interstitial lung disease are similar to those obtained in left-handed/right hemispheric chemically dominant individuals by the dichotic listening test. However, all the patients with interstitial lung disease were right-handed/left hemispheric dominant by the dichotic listening test. Hemispheric chemical dominance has no correlation with handedness or the dichotic listening test. Interstitial lung disease occurs in right hemispheric chemically dominant individuals and is a reflection of altered brain function.
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The Vulnerability of Some Networks including Cycles via Domination Parameters
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Tufan Turaci
2016-01-01
Full Text Available Let G=(V(G,E(G be an undirected simple connected graph. A network is usually represented by an undirected simple graph where vertices represent processors and edges represent links between processors. Finding the vulnerability values of communication networks modeled by graphs is important for network designers. The vulnerability value of a communication network shows the resistance of the network after the disruption of some centers or connection lines until a communication breakdown. The domination number and its variations are the most important vulnerability parameters for network vulnerability. Some variations of domination numbers are the 2-domination number, the bondage number, the reinforcement number, the average lower domination number, the average lower 2-domination number, and so forth. In this paper, we study the vulnerability of cycles and related graphs, namely, fans, k-pyramids, and n-gon books, via domination parameters. Then, exact solutions of the domination parameters are obtained for the above-mentioned graphs.
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Factors controlling sulfur gas exchange in Sphagnum-dominated wetlands
Demello, William Zamboni; Hines, Mark E.; Bayley, Suzanne E.
1992-01-01
Atmosphere-peatland exchange of reduced sulfur gases was determined seasonally in fen in NH, and in an artificially-acidified fen at the Experimental Lakes Area (ELA) in Canada. Dimethyl sulfide (DMS) dominated gas fluxes at rates as high as 400 nmol/m(sup -2)hr(sup -1). DMS fluxes measured using enclosures were much higher than those calculated using a stagnant-film model, suggesting that Sphagnum regulated efflux. Temperature controlled diel and seasonal variability in DMS emissions. Use of differing enclosure techniques indicated that vegetated peatlands consume atmospheric carbonyl sulfide. Sulfate amendments caused DMS and methane thiol concentrations in near-surface pore waters to increase rapidly, but fluxes of these gases to the atmosphere were not affected. However, emission data from sites experiencing large differences in rates of sulfate deposition from the atmosphere suggested that chronic elevated sulfate inputs enhance DMS emissions from northern wetlands.
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SPG10 is a rare cause of spastic paraplegia in European families.
Schule, R.; Kremer, H.P.H.; Kassubek, J.; Auer-Grumbach, M.; Kostic, V.; Klopstock, T.; Klimpe, S.; Otto, S.; Boesch, S.; Warrenburg, B.P.C. van de; Schols, L.
2008-01-01
BACKGROUND: SPG10 is an autosomal dominant form of hereditary spastic paraplegia (HSP), which is caused by mutations in the neural kinesin heavy chain KIF5A gene, the neuronal motor of fast anterograde axonal transport. Only four mutations have been identified to date. OBJECTIVE: To determine the
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SPG10 is a rare cause of spastic paraplegia in European families
Schuele, R.; Kremer, B. P. H.; Kassubek, J.; Auer-Grumbach, M.; Kostic, V.; Klopstock, T.; Klimpe, S.; Otto, S.; Boesch, S.; van de Warrenburg, B. P.; Schoels, L.
Background: SPG10 is an autosomal dominant form of hereditary spastic paraplegia (HSP), which is caused by mutations in the neural kinesin heavy chain KIF5A gene, the neuronal motor of fast anterograde axonal transport. Only four mutations have been identified to date. Objective: To determine the
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Directory of Open Access Journals (Sweden)
Ute Philipp
Full Text Available A dominantly inherited syndrome associated with hypopigmentation, heterochromia irides, colobomatous eyes and bilateral hearing loss has been ascertained in Fleckvieh cattle (German White Fleckvieh syndrome. This syndrome has been mapped to bovine chromosome (BTA 22 using a genome-wide association study with the bovine high density single nucleotide polymorphism array. An R210I missense mutation has been identified within microphthalmia-associated transcription factor (MITF as responsible for this syndrome. The mutation is located in the highly conserved basic region of the protein and causes a negative-dominant effect. SOX10 and PAX3 promoter binding site mutations in MITF could be ruled out as causative for the German White Fleckvieh syndrome. Molecular characterization of this newly detected bovine syndrome means a large animal model is now available for the Tietz syndrome in humans.
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Ocular dominance affects magnitude of dipole moment: an MEG study.
Shima, Hiroshi; Hasegawa, Mitsuhiro; Tachibana, Osamu; Nomura, Motohiro; Yamashita, Junkoh; Ozaki, Yuzo; Kawai, Jun; Higuchi, Masanori; Kado, Hisashi
2010-08-23
To investigate whether the ocular dominance affects laterality in the activity of the primary visual cortex, we examined the relationship between the ocular dominance and latency or dipole moment measured by checkerboard-pattern and magnetoencephalography in 11 right-handed healthy male participants. Participants with left-eye dominance showed a dipole moment of 21.5+/-6.1 nAm with left-eye stimulation and 16.1+/-3.6 nAm with right, whereas those with right-eye dominance showed a dipole moment of 18.0+/-5.2 and 21.5+/-2.7 nAm with left-eye and right-eye stimulation of the infero-medial quadrant visual field, respectively. Thus, the dipole moment was higher when the dominant eye was stimulated, which implies that ocular dominance is regulated by the ipsilateral occipital lobe.
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ENPP1 Mutation Causes Recessive Cole Disease by Altering Melanogenesis.
Chourabi, Marwa; Liew, Mei Shan; Lim, Shawn; H'mida-Ben Brahim, Dorra; Boussofara, Lobna; Dai, Liang; Wong, Pui Mun; Foo, Jia Nee; Sriha, Badreddine; Robinson, Kim Samirah; Denil, Simon; Common, John Ea; Mamaï, Ons; Ben Khalifa, Youcef; Bollen, Mathieu; Liu, Jianjun; Denguezli, Mohamed; Bonnard, Carine; Saad, Ali; Reversade, Bruno
2018-02-01
Cole disease is a genodermatosis of pigmentation following a strict dominant mode of inheritance. In this study, we investigated eight patients affected with an overlapping genodermatosis after recessive inheritance. The patients presented with hypo- and hyperpigmented macules over the body, resembling dyschromatosis universalis hereditaria in addition to punctuate palmoplantar keratosis. By homozygosity mapping and whole-exome sequencing, a biallelic p.Cys120Arg mutation in ectonucleotide pyrophosphatase/phosphodiesterase 1 (ENPP1) was identified in all patients. We found that this mutation, like those causing dominant Cole disease, impairs homodimerization of the ENPP1 enzyme that is mediated by its two somatomedin-B-like domains. Histological analysis revealed structural and molecular changes in affected skin that were likely to originate from defective melanocytes because keratinocytes do not express ENPP1. Consistently, RNA-sequencing analysis of patient-derived primary melanocytes revealed alterations in melanocyte development and in pigmentation signaling pathways. We therefore conclude that germline ENPP1 cysteine-specific mutations, primarily affecting the melanocyte lineage, cause a clinical spectrum of dyschromatosis, in which the p.Cys120Arg allele represents a recessive and more severe form of Cole disease. Copyright © 2017 The Authors. Published by Elsevier Inc. All rights reserved.
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Hypothalamic digoxin, hemispheric chemical dominance, and chronic bronchitis emphysema.
Kurup, Ravi Kumar; Kurup, Parameswara Achutha
2003-09-01
The isoprenoid pathway produces three key metabolites--endogenous digoxin (membrane sodium-potassium ATPase inhibitor, immunomodulator, and regulator of neurotransmitter/amino acid transport), dolichol (regulates N-glycosylation of proteins), and ubiquinone (free radical scavenger). This was assessed in patients with chronic bronchitis emphysema. The pathway was also assessed in patients with right hemispheric, left hemispheric, and bihemispheric dominance to find the role of hemispheric dominance in the pathogenesis of chronic bronchitis emphysema. All the 15 patients with chronic bronchitis emphysema were right-handed/left hemispheric dominant by the dichotic listening test. In patients with chronic bronchitis emphysema there was elevated digoxin synthesis, increased dolichol, and glycoconjugate levels, and low ubiquinone and elevated free radical levels. There was also an increase in tryptophan catabolites and a reduction in tyrosine catabolites. There was an increase in cholesterol:phospholipid ratio and a reduction in glycoconjugate levels of RBC membrane in patients with chronic bronchitis emphysema. The same biochemical patterns were obtained in individuals with right hemispheric dominance. Endogenous digoxin by activating the calcineurin signal transduction pathway of T-cell can contribute to immune activation in chronic bronchitis emphysema. Increased free radical generation can also lead to immune activation. Endogenous synthesis of nicotine can contribute to the pathogenesis of the disease. Altered glycoconjugate metabolism and membranogenesis can lead to defective lysosomal stability contributing to the disease process by increased release of lysosomal proteases. The role of an endogenous digoxin and hemispheric dominance in the pathogenesis of chronic bronchitis emphysema and in the regulation of lung structure/function is discussed. The biochemical patterns obtained in chronic bronchitis emphysema is similar to those obtained in left
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Extrinsic versus intrinsic hand muscle dominance in finger flexion.
Al-Sukaini, A; Singh, H P; Dias, J J
2016-05-01
This study aims to identify the patterns of dominance of extrinsic or intrinsic muscles in finger flexion during initiation of finger curl and mid-finger flexion. We recorded 82 hands of healthy individuals (18-74 years) while flexing their fingers and tracked the finger joint angles of the little finger using video motion tracking. A total of 57 hands (69.5%) were classified as extrinsic dominant, where the finger flexion was initiated and maintained at proximal interphalangeal and distal interphalangeal joints. A total of 25 (30.5%) were classified as intrinsic dominant, where the finger flexion was initiated and maintained at the metacarpophalangeal joint. The distribution of age, sex, dominance, handedness and body mass index was similar in the two groups. This knowledge may allow clinicians to develop more efficient rehabilitation regimes, since intrinsic dominant individuals would not initiate extrinsic muscle contraction till later in finger flexion, and might therefore be allowed limited early active motion. For extrinsic dominant individuals, by contrast, initial contraction of extrinsic muscles would place increased stress on the tendon repair site if early motion were permitted. © The Author(s) 2016.
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EFFECTS OF FISHING ON THE SIZE AND DOMINANCE ...
African Journals Online (AJOL)
... waters of the Western Cape show a trend towards increasing dominance with increased effort, whereas the warm-temperate regions show decreased dominance with increased fishing pressure. These findings have important consequences for fisheries management, because not only are several stocks badly overfished, ...
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Stochastic Dominance under the Nonlinear Expected Utilities
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Xinling Xiao
2014-01-01
Full Text Available In 1947, von Neumann and Morgenstern introduced the well-known expected utility and the related axiomatic system (see von Neumann and Morgenstern (1953. It is widely used in economics, for example, financial economics. But the well-known Allais paradox (see Allais (1979 shows that the linear expected utility has some limitations sometimes. Because of this, Peng proposed a concept of nonlinear expected utility (see Peng (2005. In this paper we propose a concept of stochastic dominance under the nonlinear expected utilities. We give sufficient conditions on which a random choice X stochastically dominates a random choice Y under the nonlinear expected utilities. We also provide sufficient conditions on which a random choice X strictly stochastically dominates a random choice Y under the sublinear expected utilities.
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Cause-specific mortality and socioeconomic status in Chakaria, Bangladesh.
Hanifi, Syed M A; Mahmood, Shehrin S; Bhuiya, Abbas
2014-01-01
Bangladesh has achieved remarkable gains in health indicators during the last four decades despite low levels of economic development. However, the persistence of inequities remains disturbing. This success was also accompanied by health and demographic transitions, which in turn brings new challenges for a nation that has yet to come to terms with pre-transition health challenges. It is therefore important to understand the causes of death and their relationship with socioeconomic status (SES). The paper aims to assess the causes of death by SES based on surveillance data from a rural area of Bangladesh, in order to understand the situation and inform policy makers and programme leaders. We analysed population-based mortality data collected from the Chakaria Health and Demographic Surveillance System in Bangladesh. The causes of death were determined by using a Bayesian-based programme for interpreting verbal autopsy findings (InterVA-4). The data included 1,391 deaths in 217,167 person-years of observation between 2010 and 2012. The wealth index constructed using household assets was used to assess the SES, and disease burdens were compared among the wealth quintiles. Analysing cause of death (CoD) revealed that non-communicable diseases (NCDs) were the leading causes of deaths (37%), followed by communicable diseases (CDs) (22%), perinatal and neonatal conditions (11%), and injury and accidents (6%); the cause of remaining 24% of deaths could not be determined. Age-specific mortality showed premature birth, respiratory infections, and drowning were the dominant causes of death for childhood mortality (0-14 years), which was inversely associated with SES (p<0.04). For adult and the elderly (15 years and older), NCDs were the leading cause of death (51%), followed by CDs (23%). For adult and the elderly, NCDs concentrated among the population from higher SES groups (p<0.005), and CDs among the lower SES groups (p<0.001). Epidemiologic transition is taking place
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Cause-specific mortality and socioeconomic status in Chakaria, Bangladesh
Directory of Open Access Journals (Sweden)
Syed M. A. Hanifi
2014-10-01
Full Text Available Background: Bangladesh has achieved remarkable gains in health indicators during the last four decades despite low levels of economic development. However, the persistence of inequities remains disturbing. This success was also accompanied by health and demographic transitions, which in turn brings new challenges for a nation that has yet to come to terms with pre-transition health challenges. It is therefore important to understand the causes of death and their relationship with socioeconomic status (SES. Objective: The paper aims to assess the causes of death by SES based on surveillance data from a rural area of Bangladesh, in order to understand the situation and inform policy makers and programme leaders. Design: We analysed population-based mortality data collected from the Chakaria Health and Demographic Surveillance System in Bangladesh. The causes of death were determined by using a Bayesian-based programme for interpreting verbal autopsy findings (InterVA-4. The data included 1,391 deaths in 217,167 person-years of observation between 2010 and 2012. The wealth index constructed using household assets was used to assess the SES, and disease burdens were compared among the wealth quintiles. Results: Analysing cause of death (CoD revealed that non-communicable diseases (NCDs were the leading causes of deaths (37%, followed by communicable diseases (CDs (22%, perinatal and neonatal conditions (11%, and injury and accidents (6%; the cause of remaining 24% of deaths could not be determined. Age-specific mortality showed premature birth, respiratory infections, and drowning were the dominant causes of death for childhood mortality (0–14 years, which was inversely associated with SES (p<0.04. For adult and the elderly (15 years and older, NCDs were the leading cause of death (51%, followed by CDs (23%. For adult and the elderly, NCDs concentrated among the population from higher SES groups (p<0.005, and CDs among the lower SES groups (p<0
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Wang, Xia; Charng, Wu-Lin; Chen, Chun-An; Rosenfeld, Jill A; Al Shamsi, Aisha; Al-Gazali, Lihadh; McGuire, Marianne; Mew, Nicholas Ah; Arnold, Georgianne L; Qu, Chunjing; Ding, Yan; Muzny, Donna M; Gibbs, Richard A; Eng, Christine M; Walkiewicz, Magdalena; Xia, Fan; Plon, Sharon E; Lupski, James R; Schaaf, Christian P; Yang, Yaping
2017-04-01
ABL1 is a proto-oncogene well known as part of the fusion gene BCR-ABL1 in the Philadelphia chromosome of leukemia cancer cells. Inherited germline ABL1 changes have not been associated with genetic disorders. Here we report ABL1 germline variants cosegregating with an autosomal dominant disorder characterized by congenital heart disease, skeletal abnormalities, and failure to thrive. The variant c.734A>G (p.Tyr245Cys) was found to occur de novo or cosegregate with disease in five individuals (families 1-3). Additionally, a de novo c.1066G>A (p.Ala356Thr) variant was identified in a sixth individual (family 4). We overexpressed the mutant constructs in HEK 293T cells and observed increased tyrosine phosphorylation, suggesting increased ABL1 kinase activities associated with both the p.Tyr245Cys and p.Ala356Thr substitutions. Our clinical and experimental findings, together with previously reported teratogenic effects of selective BCR-ABL inhibitors in humans and developmental defects in Abl1 knockout mice, suggest that ABL1 has an important role during organismal development.
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Social dominance, values and ideological positioning in college students
Elena Zubieta; Gisela Delfino; Omar Fernández
2015-01-01
Social Dominance Theory (Sidanius & Pratto, 1999) stress that systematic inter group discrimination is related to social ideologies that contribute to coordinate institutions and individuals behaviors. The acceptance of inequity legitimating ideologies is partially determined for individuals general desire of group based domination. This desire is captured by Social Orientation Domination construct -SDO. Pursuing the objective of exploring SDO levels and its relationship with variables su...
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Do Mergers of Potentially Dominant firms foster Innovation?
Cefis, E.; Sabidussi, A.; Schenk, E.J.J.
2007-01-01
We investigate the effects of M&A on innovation in the specific context of potential or realized market dominance. Authorities are challenged by balancing both detrimental and beneficial effects of mergers on innovation, especially when a merger threatens to result in market dominance, while
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Hypothalamic digoxin, hemispheric chemical dominance, and mesenteric artery occlusion.
Kurup, Ravi Kumar; Kurup, Paramesware Achutha
2003-12-01
The role of the isoprenoid pathway in vascular thrombosis, especially mesenteric artery occlusion and its relation to hemispheric dominance, was assessed in this study. The following parameters were measured in patients with mesenteric artery occlusion and individuals with right hemispheric, left hemispheric, and bihemispheric dominance: (1) plasma HMG CoA reductase, digoxin, dolichol, ubiquinone, and magnesium levels; (2) tryptophan/tyrosine catabolic patterns; (3) free radical metabolism; (4) glycoconjugate metabolism; and (5) membrane composition. In patients with mesenteric artery occlusion there was elevated digoxin synthesis, increased dolichol and glycoconjugate levels, low ubiquinone, and elevated free radical levels. The RBC membrane Na(+)-K+ ATPase activity and serum magnesium were decreased. There was also an increase in tryptophan catabolites and reduction in tyrosine catabolites in the serum. There was an increase in cholesterol:phospholipid ratio and a reduction in glycoconjugate level of RBC membrane in these patients. The biochemical patterns obtained in mesenteric artery occlusion is similar to those obtained in left-handed/right hemispheric dominant individuals by the dichotic listening test. But all the patients with mesenteric artery occlusion were right-handed/left hemispheric dominant by the dichotic listening test. Hemispheric chemical dominance has no correlation with handedness or the dichotic listening test. Mesenteric artery occlusion occurs in right hemispheric chemically dominant individuals and is a reflection of altered brain function. Hemispheric chemical dominance may thus control the risk for developing vascular thrombosis in individuals.
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Different Vocal Parameters Predict Perceptions of Dominance and Attractiveness.
Hodges-Simeon, Carolyn R; Gaulin, Steven J C; Puts, David A
2010-12-01
Low mean fundamental frequency (F(0)) in men's voices has been found to positively influence perceptions of dominance by men and attractiveness by women using standardized speech. Using natural speech obtained during an ecologically valid social interaction, we examined relationships between multiple vocal parameters and dominance and attractiveness judgments. Male voices from an unscripted dating game were judged by men for physical and social dominance and by women in fertile and non-fertile menstrual cycle phases for desirability in short-term and long-term relationships. Five vocal parameters were analyzed: mean F(0) (an acoustic correlate of vocal fold size), F(0) variation, intensity (loudness), utterance duration, and formant dispersion (D(f), an acoustic correlate of vocal tract length). Parallel but separate ratings of speech transcripts served as controls for content. Multiple regression analyses were used to examine the independent contributions of each of the predictors. Physical dominance was predicted by low F(0) variation and physically dominant word content. Social dominance was predicted only by socially dominant word content. Ratings of attractiveness by women were predicted by low mean F(0), low D(f), high intensity, and attractive word content across cycle phase and mating context. Low D(f) was perceived as attractive by fertile-phase women only. We hypothesize that competitors and potential mates may attend more strongly to different components of men's voices because of the different types of information these vocal parameters provide.
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Power, Domination and Kafka’s Castle
Directory of Open Access Journals (Sweden)
Yücel Karadaş
2012-12-01
Full Text Available The propositions of the Enlightenment philosophy, which valued the individual and his/her freedom, began to lose effect in the middle of the 19th century, with the increasing dominance of the ‘social’ and ‘class’ brought about by the growing industrialization. This dominance, which was the result of the modern capitalist society and the beurocratic state power it gave rise to, drove the intellectuals and thinkers of the time to question the individual freedom ideals of the Enlightenment and the early stages of modernity. In the intellectual sphere this questioning gained speed with Marx but became most apparent in the propositions of the Frankfurt School, which showed a lean on Weber’s idea of beurocratic structures of the modern state. Franz Kafka’s The Castle contributes to this questioning from a literary perspective. The Castle is also important because it was written in Germany where the mechanisms of the beurocratic dominance structures were most overt. The novel strikingly represents how these mechanisms of dominance affect the individuals and the relationships between them. This study handles the individual ideal of the Enlightenment and the criticisms directed to this ideal in the modern times, and it analyzes Kafka’s The Castle in terms of how it takes its place among the criticisms to this ideal with a literary dimension. In his famous work Castle, Kafka, evaluate the modern bureaucracy and its impact on the society in a different perspective from Weber who deal with modern society with the context of rationalization. For a better understanding of the novel, it may be necessary to make a double-layer reading of it. Because, until the last pages of the novel, it is thought that modern bureaucracy as a structure is constructed in the context of “nonsense” not “rationality”. The bureucratic mechanism that woven by hundreds of details in the novel, neither its officality nor its domination built on invididuals, and
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Cerebral Malaria: An Unusual Cause of Central Diabetes Insipidus
Directory of Open Access Journals (Sweden)
Resmi Premji
2016-01-01
Full Text Available Central diabetes insipidus is an uncommon feature of malaria. A previously healthy 72-year-old man presented with fever, rigors, and altered mental status after a recent trip to Liberia, a country known for endemic falciparum malaria. Investigations confirmed plasmodium falciparum parasitemia. Within one week after admission, the serum sodium rose to 166 mEq/L and the urine output increased to 7 liters/day. Other labs were notable for a high serum osmolality, low urine osmolality, and low urine specific gravity. The hypernatremia did not respond to hypotonic fluids. Diabetes insipidus was suspected and parenteral desmopressin was started with a prompt decrease in urinary output and improvement in mental status. Additional testing showed normal anterior pituitary hormones. The desmopressin was eventually tapered off with complete resolution of symptoms. Central diabetes insipidus occurred likely as a result of obstruction of the neurohypophyseal microvasculature. Other endocrinopathies that have been reported with malaria include hyponatremia, adrenal insufficiency, hypothyroidism, hypocalcemia, hypophosphatemia, hyper-, and hypoglycemia, but none manifested in our patient. Though diabetes insipidus is a rare complication of malaria, clinicians need to be aware of this manifestation, as failure to do so may lead to fatality particularly if the patient is dehydrated.
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Serum intact parathyroid hormone levels in cats with chronic kidney disease
Directory of Open Access Journals (Sweden)
Luciano H. Giovaninni
2013-02-01
Full Text Available Chronic kidney disease (CKD is frequently observed in cats and it is characterized as a multisystemic illness, caused by several underlying metabolic changes, and secondary renal hyperparathyroidism (SRHPT is relatively common; usually it is associated with the progression of renal disease and poor prognosis. This study aimed at determining the frequency of SRHPT, and discussing possible mechanisms that could contribute to the development of SRHPT in cats at different stages of CKD through the evaluation of calcium and phosphorus metabolism, as well as acid-base status. Forty owned cats with CKD were included and divided into three groups, according to the stages of the disease, classified according to the International Renal Interest Society (IRIS as Stage II (n=12, Stage III (n=22 and Stage IV (n=6. Control group was composed of 21 clinically healthy cats. Increased serum intact parathyroid hormone (iPTH concentrations were observed in most CKD cats in all stages, and mainly in Stage IV, which hyperphosphatemia and ionized hypocalcemia were detected and associated to the cause for the development of SRHPT. In Stages II and III, however, ionized hypercalcemia was noticed suggesting that the development of SRHPT might be associated with other factors, and metabolic acidosis could be involved to the increase of serum ionized calcium. Therefore, causes for the development of SRHPT seem to be multifactorial and they must be further investigated, mainly in the early stages of CKD in cats, as hyperphosphatemia and ionized hypocalcemia could not be the only factors involved.
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A Neural Circuit for Auditory Dominance over Visual Perception.
Song, You-Hyang; Kim, Jae-Hyun; Jeong, Hye-Won; Choi, Ilsong; Jeong, Daun; Kim, Kwansoo; Lee, Seung-Hee
2017-02-22
When conflicts occur during integration of visual and auditory information, one modality often dominates the other, but the underlying neural circuit mechanism remains unclear. Using auditory-visual discrimination tasks for head-fixed mice, we found that audition dominates vision in a process mediated by interaction between inputs from the primary visual (VC) and auditory (AC) cortices in the posterior parietal cortex (PTLp). Co-activation of the VC and AC suppresses VC-induced PTLp responses, leaving AC-induced responses. Furthermore, parvalbumin-positive (PV+) interneurons in the PTLp mainly receive AC inputs, and muscimol inactivation of the PTLp or optogenetic inhibition of its PV+ neurons abolishes auditory dominance in the resolution of cross-modal sensory conflicts without affecting either sensory perception. Conversely, optogenetic activation of PV+ neurons in the PTLp enhances the auditory dominance. Thus, our results demonstrate that AC input-specific feedforward inhibition of VC inputs in the PTLp is responsible for the auditory dominance during cross-modal integration. Copyright © 2017 Elsevier Inc. All rights reserved.
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Bounds on the 2-domination number in cactus graphs
Directory of Open Access Journals (Sweden)
Mustapha Chellali
2006-01-01
Full Text Available A \\(2\\-dominating set of a graph \\(G\\ is a set \\(D\\ of vertices of \\(G\\ such that every vertex not in \\(S\\ is dominated at least twice. The minimum cardinality of a \\(2\\-dominating set of \\(G\\ is the \\(2\\-domination number \\(\\gamma_{2}(G\\. We show that if \\(G\\ is a nontrivial connected cactus graph with \\(k(G\\ even cycles (\\(k(G\\geq 0\\, then \\(\\gamma_{2}(G\\geq\\gamma_{t}(G-k(G\\, and if \\(G\\ is a graph of order \\(n\\ with at most one cycle, then \\(\\gamma_{2}(G\\geqslant(n+\\ell-s/2\\ improving Fink and Jacobson's lower bound for trees with \\(\\ell>s\\, where \\(\\gamma_{t}(G\\, \\(\\ell\\ and \\(s\\ are the total domination number, the number of leaves and support vertices of \\(G\\, respectively. We also show that if \\(T\\ is a tree of order \\(n\\geqslant 3\\, then \\(\\gamma_{2}(T\\leqslant\\beta(T+s-1\\, where \\(\\beta(T\\ is the independence number of \\(T\\.
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Different Vocal Parameters Predict Perceptions of Dominance and Attractiveness
Hodges-Simeon, Carolyn R.; Gaulin, Steven J. C.; Puts, David A.
2010-01-01
Low mean fundamental frequency (F 0) in men’s voices has been found to positively influence perceptions of dominance by men and attractiveness by women using standardized speech. Using natural speech obtained during an ecologically valid social interaction, we examined relationships between multiple vocal parameters and dominance and attractiveness judgments. Male voices from an unscripted dating game were judged by men for physical and social dominance and by women in fert...
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The causes of land-use and land-cover change : moving beyond the myths
Lambin, E.F.; Turner, B.L.; Geist, H.J.; Agbola, S.B.; Angelsen, A.; Bruce, J.W.; Coomes, O.T.; Dirzo, R.; Fischer, G.; Folke, C.; George, P.S.; Homewood, K.; Imbernon, J.; Leemans, R.; Xiubin Li,; Moran, E.F.; Mortimore, M.; Ramakrishnan, P.S.; Richards, J.F.; Skanes, H.; Steffen, W.; Stone, G.D.; Svedin, U.; Veldkamp, A.; Vogel, C.; Jianchu Xu,
2001-01-01
Common understanding of the causes of land-use and land-cover change is dominated by simplifications which, in turn, underlie many environment-development policies. This article tracks some of the major myths on driving forces of land-cover change and proposes alternative pathways of change that are
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Ajroud-Driss, Senda; Fecto, Faisal; Ajroud, Kaouther; Lalani, Irfan; Calvo, Sarah E; Mootha, Vamsi K; Deng, Han-Xiang; Siddique, Nailah; Tahmoush, Albert J; Heiman-Patterson, Terry D; Siddique, Teepu
2015-01-01
Mitochondrial myopathies belong to a larger group of systemic diseases caused by morphological or biochemical abnormalities of mitochondria. Mitochondrial disorders can be caused by mutations in either the mitochondrial or nuclear genome. Only 5% of all mitochondrial disorders are autosomal dominant. We analyzed DNA from members of the previously reported Puerto Rican kindred with an autosomal dominant mitochondrial myopathy (Heimann-Patterson et al. 1997). Linkage analysis suggested a putative locus on the pericentric region of the long arm of chromosome 22 (22q11). Using the tools of integrative genomics, we established chromosome 22 open reading frame 16 (C22orf16) (later designated as CHCHD10) as the only high-scoring mitochondrial candidate gene in our minimal candidate region. Sequence analysis revealed a double-missense mutation (R15S and G58R) in cis in CHCHD10 which encodes a coiled coil-helix-coiled coil-helix protein of unknown function. These two mutations completely co-segregated with the disease phenotype and were absent in 1,481 Caucasian and 80 Hispanic (including 32 Puerto Rican) controls. Expression profiling showed that CHCHD10 is enriched in skeletal muscle. Mitochondrial localization of the CHCHD10 protein was confirmed using immunofluorescence in cells expressing either wild-type or mutant CHCHD10. We found that the expression of the G58R, but not the R15S, mutation induced mitochondrial fragmentation. Our findings identify a novel gene causing mitochondrial myopathy, thereby expanding the spectrum of mitochondrial myopathies caused by nuclear genes. Our findings also suggest a role for CHCHD10 in the morphologic remodeling of the mitochondria.
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Distance relay performance in future converter dominated power systems
DEFF Research Database (Denmark)
Sarkar, Moumita; Jia, Jundi; Yang, Guangya
2017-01-01
Increasing penetration of converter-based generations in power system has led to new system challenges. Short circuit power response from converter-based generations is different from that of traditional synchronous generators. Power electronic converters can be designed for over-current only up ...... of converter controls on fault current response of converter-based generations is also investigated. Index Terms—Converter control, distance relays, power system protection, system modelling....... to 1.1-1.25 times of its nominal value. Low availability of short circuit power can cause many challenges such as misoperation of distance relays. The aim of this paper is to investigate the effect of converter dominated systems on performance of distance relays. Backup functionality of the distance...... relay is major concern as miscoordination of backup relays in case of cascading faults can lead to severe stress in system, which can develop into blackout. In this paper, response of relays in traditional system is compared with response of relays in low short-circuit-current power systems. Impact...
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Hierarchy, Dominance, and Deliberation: Egalitarian Values Require Mental Effort.
Van Berkel, Laura; Crandall, Christian S; Eidelman, Scott; Blanchar, John C
2015-09-01
Hierarchy and dominance are ubiquitous. Because social hierarchy is early learned and highly rehearsed, the value of hierarchy enjoys relative ease over competing egalitarian values. In six studies, we interfere with deliberate thinking and measure endorsement of hierarchy and egalitarianism. In Study 1, bar patrons' blood alcohol content was correlated with hierarchy preference. In Study 2, cognitive load increased the authority/hierarchy moral foundation. In Study 3, low-effort thought instructions increased hierarchy endorsement and reduced equality endorsement. In Study 4, ego depletion increased hierarchy endorsement and caused a trend toward reduced equality endorsement. In Study 5, low-effort thought instructions increased endorsement of hierarchical attitudes among those with a sense of low personal power. In Study 6, participants' thinking quickly allocated more resources to high-status groups. Across five operationalizations of impaired deliberative thought, hierarchy endorsement increased and egalitarianism receded. These data suggest hierarchy may persist in part because it has a psychological advantage. © 2015 by the Society for Personality and Social Psychology, Inc.
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Mutation in CPT1C Associated With Pure Autosomal Dominant Spastic Paraplegia.
Rinaldi, Carlo; Schmidt, Thomas; Situ, Alan J; Johnson, Janel O; Lee, Philip R; Chen, Ke-Lian; Bott, Laura C; Fadó, Rut; Harmison, George H; Parodi, Sara; Grunseich, Christopher; Renvoisé, Benoît; Biesecker, Leslie G; De Michele, Giuseppe; Santorelli, Filippo M; Filla, Alessandro; Stevanin, Giovanni; Dürr, Alexandra; Brice, Alexis; Casals, Núria; Traynor, Bryan J; Blackstone, Craig; Ulmer, Tobias S; Fischbeck, Kenneth H
2015-05-01
The family of genes implicated in hereditary spastic paraplegias (HSPs) is quickly expanding, mostly owing to the widespread availability of next-generation DNA sequencing methods. Nevertheless, a genetic diagnosis remains unavailable for many patients. To identify the genetic cause for a novel form of pure autosomal dominant HSP. We examined and followed up with a family presenting to a tertiary referral center for evaluation of HSP for a decade until August 2014. Whole-exome sequencing was performed in 4 patients from the same family and was integrated with linkage analysis. Sanger sequencing was used to confirm the presence of the candidate variant in the remaining affected and unaffected members of the family and screen the additional patients with HSP. Five affected and 6 unaffected participants from a 3-generation family with pure adult-onset autosomal dominant HSP of unknown genetic origin were included. Additionally, 163 unrelated participants with pure HSP of unknown genetic cause were screened. Mutation in the neuronal isoform of carnitine palmitoyl-transferase (CPT1C) gene. We identified the nucleotide substitution c.109C>T in exon 3 of CPT1C, which determined the base substitution of an evolutionarily conserved Cys residue for an Arg in the gene product. This variant strictly cosegregated with the disease phenotype and was absent in online single-nucleotide polymorphism databases and in 712 additional exomes of control participants. We showed that CPT1C, which localizes to the endoplasmic reticulum, is expressed in motor neurons and interacts with atlastin-1, an endoplasmic reticulum protein encoded by the ATL1 gene known to be mutated in pure HSPs. The mutation, as indicated by nuclear magnetic resonance spectroscopy studies, alters the protein conformation and reduces the mean (SD) number (213.0 [46.99] vs 81.9 [14.2]; P lipid droplets on overexpression in cells. We also observed a reduction of mean (SD) lipid droplets in primary cortical neurons
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Human-like brain hemispheric dominance in birdsong learning.
Moorman, Sanne; Gobes, Sharon M H; Kuijpers, Maaike; Kerkhofs, Amber; Zandbergen, Matthijs A; Bolhuis, Johan J
2012-07-31
Unlike nonhuman primates, songbirds learn to vocalize very much like human infants acquire spoken language. In humans, Broca's area in the frontal lobe and Wernicke's area in the temporal lobe are crucially involved in speech production and perception, respectively. Songbirds have analogous brain regions that show a similar neural dissociation between vocal production and auditory perception and memory. In both humans and songbirds, there is evidence for lateralization of neural responsiveness in these brain regions. Human infants already show left-sided dominance in their brain activation when exposed to speech. Moreover, a memory-specific left-sided dominance in Wernicke's area for speech perception has been demonstrated in 2.5-mo-old babies. It is possible that auditory-vocal learning is associated with hemispheric dominance and that this association arose in songbirds and humans through convergent evolution. Therefore, we investigated whether there is similar song memory-related lateralization in the songbird brain. We exposed male zebra finches to tutor or unfamiliar song. We found left-sided dominance of neuronal activation in a Broca-like brain region (HVC, a letter-based name) of juvenile and adult zebra finch males, independent of the song stimulus presented. In addition, juvenile males showed left-sided dominance for tutor song but not for unfamiliar song in a Wernicke-like brain region (the caudomedial nidopallium). Thus, left-sided dominance in the caudomedial nidopallium was specific for the song-learning phase and was memory-related. These findings demonstrate a remarkable neural parallel between birdsong and human spoken language, and they have important consequences for our understanding of the evolution of auditory-vocal learning and its neural mechanisms.
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Vector-meson dominance revisited
Directory of Open Access Journals (Sweden)
Terschlüsen Carla
2012-12-01
Full Text Available The interaction of mesons with electromagnetism is often well described by the concept of vector-meson dominance (VMD. However, there are also examples where VMD fails. A simple chiral Lagrangian for pions, rho and omega mesons is presented which can account for the respective agreement and disagreement between VMD and phenomenology in the sector of light mesons.
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DEFF Research Database (Denmark)
Guillot, Gilles; Carpentier-Skandalis, Alexandra
2011-01-01
We study the accuracy of a Bayesian supervised method used to cluster individuals into genetically homogeneous groups on the basis of dominant or codominant molecular markers. We provide a formula relating an error criterion to the number of loci used and the number of clusters. This formula...
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Hemispheric dominance and cell phone use.
Seidman, Michael D; Siegel, Bianca; Shah, Priyanka; Bowyer, Susan M
2013-05-01
A thorough understanding of why we hold a cell phone to a particular ear may be of importance when studying the impact of cell phone safety. To determine if there is an obvious association between sidedness of cell phone use and auditory hemispheric dominance (AHD) or language hemispheric dominance (LHD). It is known that 70% to 95% of the population are right-handed, and of these, 96% have left-brain LHD. We have observed that most people use their cell phones in their right ear. An Internet survey was e-mailed to individuals through surveymonkey.com. The survey used a modified Edinburgh Handedness Inventory protocol. Sample questions surveyed which hand was used to write with, whether the right or left ear was used for phone conversations, as well as whether a brain tumor was present. General community. An Internet survey was randomly e-mailed to 5000 individuals selected from an otology online group, patients undergoing Wada testing and functional magnetic resonance imaging, as well as persons on the university listserv, of which 717 surveys were completed. Determination of hemispheric dominance based on preferred ear for cell phone use. A total of 717 surveys were returned. Ninety percent of the respondents were right handed, and 9% were left handed. Sixty-eight percent of the right-handed people used the cell phone in their right ear, 25% in the left ear, and 7% had no preference. Seventy-two of the left-handed respondents used their left ear, 23% used their right ear, and 5% had no preference. Cell phone use averaged 540 minutes per month over the past 9 years. An association exists between hand dominance laterality of cell phone use (73%) and our ability to predict hemispheric dominance. Most right-handed people have left-brain LHD and use their cell phone in their right ear. Similarly, most left-handed people use their cell phone in their left ear. Our study suggests that AHD may differ from LHD owing to the difference in handedness and cell phone ear use
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Dominant investors and strategic transparency
Perotti, E.C.; von Thadden, E.-L.
1998-01-01
This paper studies product market competition under a strategic transparency decision. Dominant investors can influence information collection in the financial market, and thereby corporate transparency, by affecting market liquidity or the cost of information collection. More transparency on a
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Dominant investors and strategic transparency
Perotti, E.C.; von Thadden, E.-L.
1999-01-01
This paper studies product market competition under a strategic transparency decision. Dominant investors can influence information collection in the financial market, and thereby corporate transparency, by affecting market liquidity or the cost of information collection. More transparency on a
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Why fight? Socially dominant jackdaws, Corvus monedula, have low fitness
Verhulst, S; Salomons, HM
2004-01-01
Social dominance is intuitively assumed to be associated with higher fitness, because social dominance implies better access to resources. We found that, in a colony of jackdaws, the dominant males consistently produced fewer fledglings, which had lower chances of survival to 1 year of age. Laying
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Dominance-based ranking functions for interval-valued intuitionistic fuzzy sets.
Chen, Liang-Hsuan; Tu, Chien-Cheng
2014-08-01
The ranking of interval-valued intuitionistic fuzzy sets (IvIFSs) is difficult since they include the interval values of membership and nonmembership. This paper proposes ranking functions for IvIFSs based on the dominance concept. The proposed ranking functions consider the degree to which an IvIFS dominates and is not dominated by other IvIFSs. Based on the bivariate framework and the dominance concept, the functions incorporate not only the boundary values of membership and nonmembership, but also the relative relations among IvIFSs in comparisons. The dominance-based ranking functions include bipolar evaluations with a parameter that allows the decision-maker to reflect his actual attitude in allocating the various kinds of dominance. The relationship for two IvIFSs that satisfy the dual couple is defined based on four proposed ranking functions. Importantly, the proposed ranking functions can achieve a full ranking for all IvIFSs. Two examples are used to demonstrate the applicability and distinctiveness of the proposed ranking functions.
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Caste dominance and economic performance in rural India
Kalwij, Adriaan; Iversen, Vegard; Verschoor, Arjan; Dubey, Amaresh
2014-01-01
Using household panel data for rural India covering 1993–94 and 2004–5, we test whether scheduled castes (SCs) and other minority groups perform better or worse in terms of income when resident in villages dominated by (i) upper castes or (ii) their own group. Theoretically, upper-caste dominance
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Connectivity editing for quad-dominant meshes
Peng, Chihan
2013-08-01
We propose a connectivity editing framework for quad-dominant meshes. In our framework, the user can edit the mesh connectivity to control the location, type, and number of irregular vertices (with more or fewer than four neighbors) and irregular faces (non-quads). We provide a theoretical analysis of the problem, discuss what edits are possible and impossible, and describe how to implement an editing framework that realizes all possible editing operations. In the results, we show example edits and illustrate the advantages and disadvantages of different strategies for quad-dominant mesh design. © 2013 The Author(s) Computer Graphics Forum © 2013 The Eurographics Association and John Wiley & Sons Ltd.
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Dominance genetic variance for traits under directional selection in Drosophila serrata.
Sztepanacz, Jacqueline L; Blows, Mark W
2015-05-01
In contrast to our growing understanding of patterns of additive genetic variance in single- and multi-trait combinations, the relative contribution of nonadditive genetic variance, particularly dominance variance, to multivariate phenotypes is largely unknown. While mechanisms for the evolution of dominance genetic variance have been, and to some degree remain, subject to debate, the pervasiveness of dominance is widely recognized and may play a key role in several evolutionary processes. Theoretical and empirical evidence suggests that the contribution of dominance variance to phenotypic variance may increase with the correlation between a trait and fitness; however, direct tests of this hypothesis are few. Using a multigenerational breeding design in an unmanipulated population of Drosophila serrata, we estimated additive and dominance genetic covariance matrices for multivariate wing-shape phenotypes, together with a comprehensive measure of fitness, to determine whether there is an association between directional selection and dominance variance. Fitness, a trait unequivocally under directional selection, had no detectable additive genetic variance, but significant dominance genetic variance contributing 32% of the phenotypic variance. For single and multivariate morphological traits, however, no relationship was observed between trait-fitness correlations and dominance variance. A similar proportion of additive and dominance variance was found to contribute to phenotypic variance for single traits, and double the amount of additive compared to dominance variance was found for the multivariate trait combination under directional selection. These data suggest that for many fitness components a positive association between directional selection and dominance genetic variance may not be expected. Copyright © 2015 by the Genetics Society of America.
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Stern, J E; Ladizesky, M G; Keller Sarmiento, M I; Cardinali, D P
1993-03-01
Hypocalcemia is a common finding during stress. The objective of this study was to examine: (a) the changes in circulating calcium, parathyroid hormone (PTH) and calcitonin (CT) concentration in rats stressed by being given a subcutaneous injection of turpentine oil, and (b) the involvement of the sympathetic cervical pathway in stress-induced changes of calcium homeostasis. Four hours after receiving turpentine oil or vehicle, rats were subjected either to hypocalcemia, by being given EDTA intraperitoneally, or to hypercalcemia, by being injected CaCl2 intraperitoneally. Significant changes in serum calcium (10% decrease), serum PTH (28% increase) and CT levels (40% decrease) were observed in stressed rats. EDTA administration brought about a significantly greater hypocalcemia, and a higher PTH secretory response in turpentine oil-stressed rats. During stress, the increase of serum calcium after CaCl2 was significantly smaller, and the rise of CT was greater than in controls. In the case of CT the changes were still observed in rats subjected to superior cervical ganglionectomy (SCGx) 14 days earlier. In the case of PTH, the increase found in stressed rats, but not the augmented response after EDTA, was blunted by SCGx. The potentiation of hypocalcemia brought about by turpentine oil was no longer observed in SCGx rats. In vehicle-treated controls, SCGx delayed PTH response to hypocalcemia, but did not affect the increased response of CT to CaCl2 challenge. The results indicate that a number of changes in calcium homeostasis arise during turpentine oil stress in rats. SCGx was effective to modify the set point for PTH release, but played a minor role in affecting the augmentation of CT release during stress.
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Ocular dominance affects magnitude of dipole moment: An MEG study
Shima, Hiroshi; Hasegawa, Mitsuhiro; Tachibana, Osamu; Nomura, Motohiro; Yamashita, Junkoh; Ozaki, Yuzo; Kawai, Jun; Higuchi, Masanori; Kado, Hisashi
2010-01-01
To investigate whether the ocular dominance affects laterality in the activity of the primary visual cortex, we examined the relationship between the ocular dominance and latency or dipole moment measured by checkerboard-pattern and magnetoencephalography in 11 right-handed healthy male participants. Participants with left-eye dominance showed a dipole moment of 21.5±6.1 nAm with left-eye stimulation and 16.1±3.6 nAm with right, whereas those with right-eye dominance showed a dipole moment of...
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Vaisman, Alex; Guiloff, Rodrigo; Rojas, Juan; Delgado, Iris; Figueroa, David; Calvo, Rafael
2017-12-01
Achieving a symmetrical power performance (difference power between the dominant and nondominant legs in healthy young adults, (2) evaluate the effect of a single-leg-dominant sport activity performed at the professional level, and (3) propose a parameter of normality for maximal power difference in the lower limbs of this young adult population. Controlled laboratory study. A total of 78 healthy, male, young adults were divided into 2 groups according to sport activity level. Group 1 consisted of 51 nonathletes (mean ± SD age, 20.8 ± 1.5 years; weight, 71.9 ± 10.5 kg) who participated in less than 8 hours a week of recreational physical activity with nonspecific training; group 2 consisted of 27 single-leg-dominant professional soccer players (age, 18.4 ± 0.6 years; weight, 70.1 ± 7.5 kg) who specifically trained and competed at their particular activity 8 hours or more a week. For assessment of maximal leg power, both groups completed the single-leg squat jump test. Dominance was determined when participants completed 2 of 3 specific tests with the same extremity. Statistical analysis included the Student t test. No statistical difference was found for maximal power between dominant and nondominant legs for nonathletes ( t = -1.01, P = .316) or single-leg-dominant professional soccer players ( t = -1.10, P = .281). A majority (95%) of participants studied showed a power difference of less than 15% between their lower extremities. Among young healthy adults, symmetrical power performance is expected between lower extremities independent of the existence of dominance and difference in sport activity level. A less than 15% difference in power seems to be a proper parameter to define symmetrical power performance assessed by vertical single-leg jump tests.
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Stress responses during aerobic exercise in relation to motivational dominance and state.
Thatcher, Joanne; Kuroda, Yusuke; Legrand, Fabien D; Thatcher, Rhys
2011-02-01
We examined the hypothesis that congruence between motivational dominance and state results in optimal psychological responses and performance during exercise. Twenty participants (10 telic dominant and 10 paratelic dominant) rated their stress at 5 min intervals as they cycled on an ergometer at gas exchange threshold for 30 min in both telic and paratelic state manipulated conditions. Participants then performed a test to exhaustion at a resistance equivalent to 110% of VO(2max). The hypothesized interaction between condition and dominance was significant for internal tension stress, as paratelic dominants were more stressed than telic dominants when exercising in the telic state and telic dominants were more stressed than paratelic dominants when exercising in the paratelic state. Similarly, the condition × dominance interaction for internal stress discrepancy was significant, as paratelic dominants reported greater internal stress discrepancy exercising in the telic compared with the paratelic state. Findings are discussed in relation to the application of reversal theory for understanding stress responses during aerobic exercise.
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Kaplan, Defne Öcal
2016-01-01
In this study, it's aimed to evaluate the relation between dominant and non-dominant hand perimeters and handgrip strength of basketball, volleyball, badminton and handball athletes. Totally 101 active athletes (49 females, 52 male), of the average age in female 20±1.42 years, in male 21±1.99 years, joined to this study. Height, body weight, BMI…
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Common cause analysis of the TREAT upgrade reactor protection system
Energy Technology Data Exchange (ETDEWEB)
Page, R.J.; Kamis, G.J.; Marbach, R.A.; Mueller, C.J.
1984-09-01
A triply redundant reactor scram system (RSS) has been designed for the upgraded TREAT facility. The independent failures reliability goal for the RSS is <10/sup -9/ failures per demand. An independent failures analysis indicated that this goal would be met. In addition, however, recognizing that in heavily redundant systems common-cause failures dominate, a common cause analysis of the TREAT upgrade RSS was done. The objective was to identify those common-cause initiators which could affect the functioning of the RSS, and to subsequently modify the design of the RSS so that the effect was minimized. A number of common-cause initiators were identified which were capable of defeating the triple redundancy feature of the reactor scram system. By means of a systematic analysis of the effect these initiators could have on the system, it was possible to identify seven necessary design and procedural modifications that would greatly reduce the probability of the reactor being run while the RSS was in a faulted condition.
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Autosomal dominant adult neuronal ceroid lipofuscinosis
Nijssen, Peter C.G.
2011-01-01
this thesis investigates a family with autosomal dominant neuronal ceroid lipofuscinosis, with chapters on clinical neurology, neuropathology, neurogenetics, neurophysiology, auditory and visual aspects.
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Incidental Parathyroidectomy during Total Thyroidectomy: Risk Factors and Consequences
Directory of Open Access Journals (Sweden)
Dimitrios K. Manatakis
2016-01-01
Full Text Available Objective. To evaluate the incidence of accidental parathyroidectomy in our series of total thyroidectomies, to investigate its clinical and biochemical consequences, and to identify potential risk factors. Methods. Patients who underwent total thyroidectomy between January 2006 and December 2015 were retrospectively analyzed. Pathology reports were reviewed to identify those cases who had an incidental parathyroidectomy and these were compared to patients with no parathyroidectomy, in terms of clinical (age, sex, and symptoms of hypocalcemia, pathological (thyroid specimen weight, Hashimoto thyroiditis, and malignancy, and biochemical (serum calcium and phosphate levels factors. Results. 281 patients underwent total thyroidectomy during the study period. Incidental parathyroidectomy was noticed in 24.9% of cases, with 44.3% of parathyroid glands found in an intrathyroidal location. Evidence of postoperative biochemical hypocalcemia was noticed in 28.6% of patients with parathyroidectomy, compared with 13.3% in the no-parathyroidectomy group (p=0.003. Symptomatic hypocalcemia was observed in 5.7% and 3.8%, respectively (p=0.49. Age, sex, thyroid specimen weight, Hashimoto thyroiditis, and malignancy did not differ significantly between the two groups. Conclusions. Our study found an association of incidental parathyroidectomy with transient postoperative biochemical hypocalcemia, but not with clinically symptomatic disease. Age, sex, thyroid gland weight, Hashimoto thyroiditis, and malignancy were not identified as risk factors.
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Rosenthal, Lisa; Levy, Sheri R; Earnshaw, Valerie A
2012-12-01
Gendered-based power affects heterosexual relationships, with beliefs in the U.S. prescribing that men dominate women sexually. We draw on social dominance theory to examine whether women's and men's level of support for group-based hierarchy (i.e., social dominance orientation; SDO) helps explain gender-based power beliefs and dynamics in heterosexual relationships. We conducted a laboratory study at a Northeastern U.S. university among 357 women and 126 men undergraduates who reported being heterosexual and sexually active, testing three sets of hypotheses. First, as hypothesized, women endorsed SDO and the belief that men should dominate sexually less than men did. Second, as hypothesized, among women and men, SDO was positively correlated with the belief that men should dominate sexually, and negatively correlated with sexual self-efficacy (confidence in sexual situations) and number of female condoms (a woman-controlled source of protection) taken. Third, structural equation modeling, controlling for age, family income, number of sexual partners in the past month, and perceived HIV/AIDS risk, supported the hypothesis that among women and men, the belief that men should dominate sexually mediates SDO's association with sexual self-efficacy. The hypothesis that the belief that men should dominate sexually mediates SDO's association with number of female condoms taken was supported for women only. The hypothesis that sexual self-efficacy mediates SDO's association with number of female condoms taken was not supported. Results suggest SDO influences power beliefs and dynamics in heterosexual relationships. Although female condoms are an important woman-controlled source of protection, power-related beliefs may pose a challenge to their use.
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Topics in the generalized vector dominance model
International Nuclear Information System (INIS)
Chavin, S.
1976-01-01
Two topics are covered in the generalized vector dominance model. In the first topic a model is constructed for dilepton production in hadron-hadron interactions based on the idea of generalized vector-dominance. It is argued that in the high mass region the generalized vector-dominance model and the Drell-Yan parton model are alternative descriptions of the same underlying physics. In the low mass regions the models differ; the vector-dominance approach predicts a greater production of dileptons. It is found that the high mass vector mesons which are the hallmark of the generalized vector-dominance model make little contribution to the large yield of leptons observed in the transverse-momentum range 1 less than p/sub perpendicular/ less than 6 GeV. The recently measured hadronic parameters lead one to believe that detailed fits to the data are possible under the model. The possibility was expected, and illustrated with a simple model the extreme sensitivity of the large-p/sub perpendicular/ lepton yield to the large-transverse-momentum tail of vector-meson production. The second topic is an attempt to explain the mysterious phenomenon of photon shadowing in nuclei utilizing the contribution of the longitudinally polarized photon. It is argued that if the scalar photon anti-shadows, it could compensate for the transverse photon, which is presumed to shadow. It is found in a very simple model that the scalar photon could indeed anti-shadow. The principal feature of the model is a cancellation of amplitudes. The scheme is consistent with scalar photon-nucleon data as well. The idea is tested with two simple GVDM models and finds that the anti-shadowing contribution of the scalar photon is not sufficient to compensate for the contribution of the transverse photon. It is found doubtful that the scalar photon makes a significant contribution to the total photon-nuclear cross section
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Circulating FGF23 levels in response to acute changes in plasma Ca(2+)
DEFF Research Database (Denmark)
Gravesen, E; Mace, M.L.; Hofman-Bang, J.
2014-01-01
The regulation of fibroblast growth factor 23 (FGF23) synthesis and secretion is still incompletely understood. FGF23 is an important regulator of renal phosphate excretion and has regulatory effects on the calciotropic hormones calcitriol and parathyroid hormone (PTH). Calcium (Ca) and phosphate...... FGF23 levels and whether a close relationship, similar that known for Ca and PTH, exists between Ca and FGF23. Thus, the aim of the present study was to examine whether acute hypercalcemia and hypocalcemia regulate FGF23 levels in the rat. Acute hypercalcemia was induced by an intravenous Ca infusion...... and hypocalcemia by infusion of ethylene glycol tetraacetic acid (EGTA) in normal and acutely parathyroidectomized rats. Intact plasma FGF23 and intact plasma PTH and plasma Ca(2+) and phosphate were measured. Acute hypercalcemia and hypocalcemia resulted as expected in adequate PTH secretory responses. Plasma FGF...
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Genetic defect causing familial Alzheimer's disease maps on chromosome 21
Energy Technology Data Exchange (ETDEWEB)
St. George-Hyslop, P.H.; Tanzi, R.E.; Polinsky, R.J.; Haines, J.L.; Nee, L.; Watkins, P.C.; Myers, R.H.; Feldman, R.G.; Pollen, D.; Drachman, D.; Growdon, J.
1987-02-20
Alzheimer's disease is a leading cause of morbidity and mortality among the elderly. Several families have been described in which Alzheimer's disease is caused by an autosomal dominant gene defect. The chromosomal location of this defective gene has been discovered by using genetic linkage to DNA markers on chromosome 21. The localization on chromosome 21 provides an explanation for the occurrence of Alzheimer's disease-like pathology in Down syndrome. Isolation and characterization of the gene at this locus may yield new insights into the nature of the defect causing familial Alzheimer's disease and possibly, into the etiology of all forms of Alzheimer's disease.
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Guan, Mingfu; Ahilan, Sangaralingam; Yu, Dapeng; Peng, Yong; Wright, Nigel
2018-01-01
Fine sediment plays crucial and multiple roles in the hydrological, ecological and geomorphological functioning of river systems. This study employs a two-dimensional (2D) numerical model to track the hydro-morphological processes dominated by fine suspended sediment, including the prediction of sediment concentration in flow bodies, and erosion and deposition caused by sediment transport. The model is governed by 2D full shallow water equations with which an advection-diffusion equation for fine sediment is coupled. Bed erosion and sedimentation are updated by a bed deformation model based on local sediment entrainment and settling flux in flow bodies. The model is initially validated with the three laboratory-scale experimental events where suspended load plays a dominant role. Satisfactory simulation results confirm the model's capability in capturing hydro-morphodynamic processes dominated by fine suspended sediment at laboratory-scale. Applications to sedimentation in a stormwater pond are conducted to develop the process-based understanding of fine sediment dynamics over a variety of flow conditions. Urban flows with 5-year, 30-year and 100-year return period and the extreme flood event in 2012 are simulated. The modelled results deliver a step change in understanding fine sediment dynamics in stormwater ponds. The model is capable of quantitatively simulating and qualitatively assessing the performance of a stormwater pond in managing urban water quantity and quality.
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Nasal cycle dominance and hallucinations in an adult schizophrenic female.
Shannahoff-Khalsa, David; Golshan, Shahrokh
2015-03-30
Nasal dominance, at the onset of hallucinations, was studied as a marker of both the lateralized ultradian rhythm of the autonomic nervous system and the tightly coupled ultradian rhythm of alternating cerebral hemispheric dominance in a single case study of a schizophrenic female. Over 1086 days, 145 hallucination episodes occurred with left nostril dominance significantly greater than the right nostril dominant phase of the nasal cycle. A right nostril breathing exercise, that primarily stimulates the left hemisphere, reduces symptoms more quickly for hallucinations. Copyright © 2015 Elsevier Ireland Ltd. All rights reserved.
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Wang, Xia; Charng, Wu-Lin; Chen, Chun-An; Rosenfeld, Jill A.; Shamsi, Aisha Al; Al-Gazali, Lihadh; McGuire, Marianne; Mew, Nicholas Ah; Arnold, Georgianne L.; Qu, Chunjing; Ding, Yan; Muzny, Donna M.; Gibbs, Richard A.; Eng, Christine M.; Walkiewicz, Magdalena; Xia, Fan; Plon, Sharon E.; Lupski, James R.; Schaaf, Christian P.; Yang, Yaping
2017-01-01
ABL1 is a proto-oncogene well known as part of the fusion gene BCR-ABL in the Philadelphia chromosome of leukemia cancer cells1. Inherited germline ABL1 changes have not been associated with genetic disorders. Here we report ABL1 germline variants co-segregating with an autosomal dominant disorder characterized by congenital heart disease, skeletal abnormalities, and failure to thrive. The variant c.734A>G (p.Tyr245Cys) was found as de novo or co-segregating with disease in five individuals (families 1-3). Additionally, a de novo c.1066G>A (p.Ala356Thr) variant was identified in the sixth individual (family 4). We overexpressed the mutant constructs in HEK 293T cells and observed increased tyrosine phosphorylation, suggesting increased ABL1 kinase activities associated with both p.Tyr245Cys and p.Ala356Thr substitutions. Our clinical and laboratory findings, together with previously reported teratogenic effects of selective BCR-ABL inhibitors in humans2-5 and developmental defects in Abl1 knock-out mice6,7, suggest ABL1 plays an important role during organismal development. PMID:28288113
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Visual dominance in olfactory memory.
Batic, N; Gabassi, P G
1987-08-01
The object of the present study was to verify the emergence of a 'visual dominance' effect in memory tests involving different sensory modes (sight and smell), brought about the preattentive mechanisms which select the visual sensory mode regardless of the recall task.
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Basic Minimal Dominating Functions of Quadratic Residue Cayley ...
African Journals Online (AJOL)
Domination arises in the study of numerous facility location problems where the number of facilities is fixed and one attempt to minimize the number of facilities necessary so that everyone is serviced. This problem reduces to finding a minimum dominating set in the graph corresponding to this network. In this paper we study ...
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Female dominance over males in primates: self-organisation and sexual dimorphism.
Directory of Open Access Journals (Sweden)
Charlotte K Hemelrijk
Full Text Available The processes that underlie the formation of the dominance hierarchy in a group are since long under debate. Models of self-organisation suggest that dominance hierarchies develop by the self-reinforcing effects of winning and losing fights (the so-called winner-loser effect, but according to 'the prior attribute hypothesis', dominance hierarchies develop from pre-existing individual differences, such as in body mass. In the present paper, we investigate the relevance of each of these two theories for the degree of female dominance over males. We investigate this in a correlative study in which we compare female dominance between groups of 22 species throughout the primate order. In our study female dominance may range from 0 (no female dominance to 1 (complete female dominance. As regards 'the prior attribute hypothesis', we expected a negative correlation between female dominance over males and species-specific sexual dimorphism in body mass. However, to our surprise we found none (we use the method of independent contrasts. Instead, we confirm the self-organisation hypothesis: our model based on the winner-loser effect predicts that female dominance over males increases with the percentage of males in the group. We confirm this pattern at several levels in empirical data (among groups of a single species and between species of the same genus and of different ones. Since the winner-loser effect has been shown to work in many taxa including humans, these results may have broad implications.
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Zago, Laure; Hervé, Pierre-Yves; Genuer, Robin; Laurent, Alexandre; Mazoyer, Bernard; Tzourio-Mazoyer, Nathalie; Joliot, Marc
2017-12-01
We used a Support Vector Machine (SVM) classifier to assess hemispheric pattern of language dominance of 47 individuals categorized as non-typical for language from their hemispheric functional laterality index (HFLI) measured on a sentence minus word-list production fMRI-BOLD contrast map. The SVM classifier was trained at discriminating between Dominant and Non-Dominant hemispheric language production activation pattern on a group of 250 participants previously identified as Typicals (HFLI strongly leftward). Then, SVM was applied to each hemispheric language activation pattern of 47 non-typical individuals. The results showed that at least one hemisphere (left or right) was found to be Dominant in every, except 3 individuals, indicating that the "dominant" type of functional organization is the most frequent in non-typicals. Specifically, left hemisphere dominance was predicted in all non-typical right-handers (RH) and in 57.4% of non-typical left-handers (LH). When both hemisphere classifications were jointly considered, four types of brain patterns were observed. The most often predicted pattern (51%) was left-dominant (Dominant left-hemisphere and Non-Dominant right-hemisphere), followed by right-dominant (23%, Dominant right-hemisphere and Non-Dominant left-hemisphere) and co-dominant (19%, 2 Dominant hemispheres) patterns. Co-non-dominant was rare (6%, 2 Non-Dominant hemispheres), but was normal variants of hemispheric specialization. In RH, only left-dominant (72%) and co-dominant patterns were detected, while for LH, all types were found, although with different occurrences. Among the 10 LH with a strong rightward HFLI, 8 had a right-dominant brain pattern. Whole-brain analysis of the right-dominant pattern group confirmed that it exhibited a functional organization strictly mirroring that of left-dominant pattern group. Hum Brain Mapp 38:5871-5889, 2017. © 2017 Wiley Periodicals, Inc. © 2017 Wiley Periodicals, Inc.
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When Inequality Fails: Power, Group Dominance, and Societal Change
Pratto, Felicia; Stewart, Andrew L.; Bou Zeineddine, Fouad
2013-01-01
Social dominance theory was developed to account for why societies producing surplus take and maintain the form of group-based dominance hierarchies, in which at least one socially-constructed group has more power than another, and in which men are more powerful than women and adults more powerful than children. Although the theory has always allowed for societies to differ in their severity of group-based dominance and how it is implemented, it has predicted that alternative forms of societa...
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Hypothalamic digoxin, hemispheric chemical dominance, and inflammatory bowel disease.
Kurup, Ravi Kumar; Kurup, Parameswara Achutha
2003-09-01
The isoprenoid pathway produces three key metabolites--endogenous digoxin, dolichol, and ubiquinone. It was considered pertinent to assess the pathway in inflammatory bowel disease (ulcerative colitis and regional ileitis). Since endogenous digoxin can regulate neurotransmitter transport, the pathway and the related cascade were also assessed in individuals with differing hemispheric dominance to find out the role of hemispheric dominance in its pathogenesis. All the patients with inflammatory bowel disease were right-handed/left hemispheric dominant by the dichotic listening test. The following parameters were measured in patients with inflammatory bowel disease and in individuals with differing hemispheric dominance: (1) plasma HMG CoA reductase, digoxin, dolichol, ubiquinone, and magnesium levels; (2) tryptophan/tyrosine catabolic patterns; (3) free-radical metabolism; (4) glycoconjugate metabolism; and (5) membrane composition and RBC membrane Na+-K+ ATPase activity. Statistical analysis was done by ANOVA. In patients with inflammatory bowel disease there was elevated digoxin synthesis, increased dolichol and glycoconjugate levels, and low ubiquinone and elevated free radical levels. There was also an increase in tryptophan catabolites and a reduction in tyrosine catabolites. There was an increase in cholesterol:phospholipid ratio and a reduction in glycoconjugate level of RBC membrane in these groups of patients. Inflammatory bowel disease is associated with an upregulated isoprenoid pathway and elevated digoxin secretion from the hypothalamus. This can contribute to immune activation, defective glycoprotein bowel antigen presentation, and autoimmunity and a schizophreniform psychosis important in its pathogenesis. The biochemical patterns obtained in inflammatory bowel disease is similar to those obtained in left-handed/right hemispheric dominant individuals by the dichotic listening test. But all the patients with peptic ulcer disease were right
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Primary Hyperaldosteronism As A Risk Factor For Recurrent Nephrolithiasis
Directory of Open Access Journals (Sweden)
Ekamol Tantisattamo
2012-06-01
Hyperaldosteronism can cause hypercalciuria, phosphaturia, and hypocitraturia, all of which are risk factors for nephrolithiasis. Additionally, hyperaldosteronism and deoxycorticosterone mediated hypertension have been associated with hypocalcemia and secondary hyperparathyroidism. Our case augments earlier literature suggesting increased risk for nephrolithiasis in patients with hyperaldosteronism and suggests that hyperaldosteronism should be considered as a risk factor for patient with nephrolithiasis. It remains unclear if both primary and secondary hyperaldosteronism increase the relative risk for nephrolithiasis and the role of aldosterone receptor antagonist therapy for recurrent nephrolithiasis associated with hyperaldosteronism.
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A dichotomy for upper domination in monogenic classes
AbouEisha, Hassan M.
2014-01-01
An upper dominating set in a graph is a minimal (with respect to set inclusion) dominating set of maximum cardinality. The problem of finding an upper dominating set is NP-hard for general graphs and in many restricted graph families. In the present paper, we study the computational complexity of this problem in monogenic classes of graphs (i.e. classes defined by a single forbidden induced subgraph) and show that the problem admits a dichotomy in this family. In particular, we prove that if the only forbidden induced subgraph is a P4 or a 2K2 (or any induced subgraph of these graphs), then the problem can be solved in polynomial time. Otherwise, it is NP-hard.
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Radio core dominance of Fermi blazars
Pei, Zhi-Yuan; Fan, Jun-Hui; Liu, Yi; Yuan, Yi-Hai; Cai, Wei; Xiao, Hu-Bing; Lin, Chao; Yang, Jiang-He
2016-07-01
During the first 4 years of mission, Fermi/LAT detected 1444 blazars (3FGL) (Ackermann et al. in Astrophys. J. 810:14, 2015). Fermi/LAT observations of blazars indicate that Fermi blazars are luminous and strongly variable with variability time scales, for some cases, as short as hours. Those observations suggest a strong beaming effect in Fermi/LAT blazars. In the present work, we will investigate the beaming effect in Fermi/LAT blazars using a core-dominance parameter, R = S_{core}/ S_{ext.}, where S_{core} is the core emission, while S_{ext.} is the extended emission. We compiled 1335 blazars with available core-dominance parameter, out of which 169 blazars have γ-ray emission (from 3FGL). We compared the core-dominance parameters, log R, between the 169 Fermi-detected blazars (FDBs) and the rest non-Fermi-detected blazars (non-FDBs), and we found that the averaged values are R+(2.25±0.10), suggesting that a source with larger log R has larger V.I. value. Thirdly, we compared the mean values of radio spectral index for FDBs and non-FDBs, and we obtained < α_{radio}rangle =0.06±0.35 for FDBs and < α_{radio}rangle =0.57±0.46 for non-FDBs. If γ-rays are composed of two components like radio emission (core and extended components), then we can expect a correlation between log R and the γ-ray spectral index. When we used the radio core-dominance parameter, log R, to investigate the relationship, we found that the spectral index for the core component is α_{γ}|_{core} = 1.11 (a photon spectral index of α_{γ}^{ph}|_{core} = 2.11) and that for the extended component is α_{γ}|_{ext.} = 0.70 (a photon spectral index of α_{γ}^{ph}|_{ext.} = 1.70). Some discussions are also presented.
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Interpersonal Dominance in Relational Conflict: A View from Dyadic Power Theory
Directory of Open Access Journals (Sweden)
Stacy L. Young
2008-06-01
Full Text Available This investigation uses dyadic power theory (Dunbar, 2004; Dunbar & Burgoon, 2005a; Rollins & Bahr, 1976 to offer competing hypotheses examining the relationship between power and dominance in close relationships. Forty-seven couples engaged in a conversation while being videotaped; the tapes were coded by third-party observers for dominance. Participants rated themselves to be the most dominant when they were equal to their partners in power, followed by those who perceived they were more powerful relative to their partners. Men and women had different perceptions of power and dominance in their relationships. Men’s perceptions of power were not related to their behavioral dominance whereas when women saw themselves as more powerful, they viewed their partners as more dominant.
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A note on neighborhood total domination in graphs
Indian Academy of Sciences (India)
[1] Arumugam S and Sivagnanam C, Neighborhood total domination in graphs, Opuscula. Mathematica 31 (2011) 519–531. [2] Chellali M and Haynes T W, A note on the total domination number of a tree, J. Combin. Math. Combin. Comput. 58 (2006) 189–193. [3] Haynes T W, Hedetniemi S T and Slater P J, Fundamentals ...
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Impressions of Dominance are Made Relative to others in the Visual Environment
Directory of Open Access Journals (Sweden)
Daniel E. Re
2014-01-01
Full Text Available Face judgments of dominance play an important role in human social interaction. Perceived facial dominance is thought to indicate physical formidability, as well as resource acquisition and holding potential. Dominance cues in the face affect perceptions of attractiveness, emotional state, and physical strength. Most experimental paradigms test perceptions of facial dominance in individual faces, or they use manipulated versions of the same face in a forced-choice task but in the absence of other faces. Here, we extend this work by assessing whether dominance ratings are absolute or are judged relative to other faces. We presented participants with faces to be rated for dominance (target faces, while also presenting a second face (non-target faces that was not to be rated. We found that both the masculinity and sex of the non-target face affected dominance ratings of the target face. Masculinized non-target faces decreased the perceived dominance of a target face relative to a feminized non-target face, and displaying a male non-target face decreased perceived dominance of a target face more so than a female non-target face. Perceived dominance of male target faces was affected more by masculinization of male non-target faces than female non-target faces. These results indicate that dominance perceptions can be altered by surrounding faces, demonstrating that facial dominance is judged at least partly relative to other faces.
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Impressions of dominance are made relative to others in the visual environment.
Re, Daniel E; Lefevre, Carmen E; DeBruine, Lisa M; Jones, Benedict C; Perrett, David I
2014-03-27
Face judgments of dominance play an important role in human social interaction. Perceived facial dominance is thought to indicate physical formidability, as well as resource acquisition and holding potential. Dominance cues in the face affect perceptions of attractiveness, emotional state, and physical strength. Most experimental paradigms test perceptions of facial dominance in individual faces, or they use manipulated versions of the same face in a forced-choice task but in the absence of other faces. Here, we extend this work by assessing whether dominance ratings are absolute or are judged relative to other faces. We presented participants with faces to be rated for dominance (target faces), while also presenting a second face (non-target faces) that was not to be rated. We found that both the masculinity and sex of the non-target face affected dominance ratings of the target face. Masculinized non-target faces decreased the perceived dominance of a target face relative to a feminized non-target face, and displaying a male non-target face decreased perceived dominance of a target face more so than a female non-target face. Perceived dominance of male target faces was affected more by masculinization of male non-target faces than female non-target faces. These results indicate that dominance perceptions can be altered by surrounding faces, demonstrating that facial dominance is judged at least partly relative to other faces.
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Testing for Stochastic Dominance Efficiency
G.T. Post (Thierry); O. Linton; Y-J. Whang
2005-01-01
textabstractWe propose a new test of the stochastic dominance efficiency of a given portfolio over a class of portfolios. We establish its null and alternative asymptotic properties, and define a method for consistently estimating critical values. We present some numerical evidence that our
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Different patterns of modality dominance across development.
Barnhart, Wesley R; Rivera, Samuel; Robinson, Christopher W
2018-01-01
The present study sought to better understand how children, young adults, and older adults attend and respond to multisensory information. In Experiment 1, young adults were presented with two spoken words, two pictures, or two word-picture pairings and they had to determine if the two stimuli/pairings were exactly the same or different. Pairing the words and pictures together slowed down visual but not auditory response times and delayed the latency of first fixations, both of which are consistent with a proposed mechanism underlying auditory dominance. Experiment 2 examined the development of modality dominance in children, young adults, and older adults. Cross-modal presentation attenuated visual accuracy and slowed down visual response times in children, whereas older adults showed the opposite pattern, with cross-modal presentation attenuating auditory accuracy and slowing down auditory response times. Cross-modal presentation also delayed first fixations in children and young adults. Mechanisms underlying modality dominance and multisensory processing are discussed. Copyright © 2017 Elsevier B.V. All rights reserved.
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CT evaluation of sigmoid plate dehiscence causing pulsatile tinnitus
Energy Technology Data Exchange (ETDEWEB)
Zhao, Pengfei; Lv, Han; Dong, Cheng; Wang, Zhenchang [Capital Medical University, Department of Radiology, Beijing Friendship Hospital, Beijing (China); Niu, Yantao; Xian, Junfang [Capital Medical University, Department of Radiology, Beijing Tongren Hospital, Beijing (China)
2016-01-15
To evaluate the characteristics of sigmoid plate dehiscence (SPD) causing pulsatile tinnitus (PT) on CT arteriography and venography (CTA + V). Thirty PT patients treated successfully with SPD reconstruction were enrolled. Sixty asymptomatic patients were matched. The location, extent, number of SPD cases and concomitant signs, including venous outflow dominance, transverse sinus stenosis, high jugular bulb, temporal bone pneumatization, height of pituitary gland and pituitary fossa, abnormal mastoid emissary vein, were detected and compared using CTA + V. More than one SPD was found on the symptomatic side in 13/30 PT patients (43.3 %). The upper segment of the sigmoid plate was involved in 29/44 SPDs in the vertical direction (65.9 %); the lateral wall was involved in 38/44 SPDs in the horizontal direction (86.4 %). Singular SPD was detected in 3/60 asymptomatic patients (1.67 ± 0.35 mm{sup 2}), less so in PT patients (7.97 ± 5.17 mm{sup 2}). Compared with the control group, ipsilateral venous outflow dominance, high jugular bulb and bilateral transverse sinus stenosis were more common in the PT group, together with deeper pituitary fossa and flatter pituitary glands. SPD causing PT has characteristic CT findings. It may be generated by vascular or intracranial pressure abnormalities and act as a common key to triggering PT's perception. (orig.)
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CT evaluation of sigmoid plate dehiscence causing pulsatile tinnitus
International Nuclear Information System (INIS)
Zhao, Pengfei; Lv, Han; Dong, Cheng; Wang, Zhenchang; Niu, Yantao; Xian, Junfang
2016-01-01
To evaluate the characteristics of sigmoid plate dehiscence (SPD) causing pulsatile tinnitus (PT) on CT arteriography and venography (CTA + V). Thirty PT patients treated successfully with SPD reconstruction were enrolled. Sixty asymptomatic patients were matched. The location, extent, number of SPD cases and concomitant signs, including venous outflow dominance, transverse sinus stenosis, high jugular bulb, temporal bone pneumatization, height of pituitary gland and pituitary fossa, abnormal mastoid emissary vein, were detected and compared using CTA + V. More than one SPD was found on the symptomatic side in 13/30 PT patients (43.3 %). The upper segment of the sigmoid plate was involved in 29/44 SPDs in the vertical direction (65.9 %); the lateral wall was involved in 38/44 SPDs in the horizontal direction (86.4 %). Singular SPD was detected in 3/60 asymptomatic patients (1.67 ± 0.35 mm 2 ), less so in PT patients (7.97 ± 5.17 mm 2 ). Compared with the control group, ipsilateral venous outflow dominance, high jugular bulb and bilateral transverse sinus stenosis were more common in the PT group, together with deeper pituitary fossa and flatter pituitary glands. SPD causing PT has characteristic CT findings. It may be generated by vascular or intracranial pressure abnormalities and act as a common key to triggering PT's perception. (orig.)
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No muscle involvement in myoclonus-dystonia caused by epsilon-sarcoglycan gene mutations1
DEFF Research Database (Denmark)
Hjermind, L.E.; Vissing, J.; Asmus, F.
2008-01-01
Mutations in the epsilon-sarcoglycan gene (SGCE) can cause autosomal dominant inherited myoclonus-dystonia (M-D). Defects in other sarcoglycans; alpha-, beta-, gamma-, and delta can cause autosomal recessive inherited limb girdle muscular dystrophies. epsilon- and alpha-sarcoglycans are very...... strength and mass showed no difference between M-D patients and controls. Our findings indicate that patients with M-D have no signs or symptoms of muscle disease. This suggests a different role of the sarcoglycan complex epsilonbetagammadelta versus alphabetagammadelta complex in humans, as earlier...
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Energy Technology Data Exchange (ETDEWEB)
Ibanez, Carles, E-mail: carles.ibanez@irta.cat [IRTA Aquatic Ecosystems, Carretera Poble Nou, Km 5.5, 43540 St. Carles de la Rapita, Catalonia (Spain); Alcaraz, Carles; Caiola, Nuno; Rovira, Albert; Trobajo, Rosa [IRTA Aquatic Ecosystems, Carretera Poble Nou, Km 5.5, 43540 St. Carles de la Rapita, Catalonia (Spain); Alonso, Miguel [United Research Services S.L., Urgell 143, 08036 Barcelona, Catalonia (Spain); Duran, Concha [Confederacion Hidrografica del Ebro, Sagasta 24-26, 50071 Zaragoza, Aragon (Spain); Jimenez, Pere J. [Grup Natura Freixe, Major 56, 43750 Flix, Catalonia (Spain); Munne, Antoni [Agencia Catalana de l' Aigua, Provenca 204-208, 08036 Barcelona, Catalonia (Spain); Prat, Narcis [Departament d' Ecologia, Universitat de Barcelona, Diagonal 645, 08028 Barcelona Catalonia (Spain)
2012-02-01
The lower Ebro River (Catalonia, Spain) has recently undergone a regime shift from a phytoplankton-dominated to a macrophyte-dominated system. This shift is well known in shallow lakes but apparently it has never been documented in rivers. Two initial hypotheses to explain the collapse of the phytoplankton were considered: a) the diminution of nutrients (bottom-up); b) the filtering effect due to the colonization of the zebra mussel (top-down). Data on water quality, hydrology and biological communities (phytoplankton, macrophytes and zebra mussel) was obtained both from existing data sets and new surveys. Results clearly indicate that the decrease in phosphorus is the main cause of a dramatic decrease in chlorophyll and large increase in water transparency, triggering the subsequent colonization of macrophytes in the river bed. A Generalized Linear Model analysis showed that the decrease in dissolved phosphorus had a relative importance 14 times higher than the increase in zebra mussel density to explain the variation of total chlorophyll. We suggest that the described changes in the lower Ebro River can be considered a novel ecosystem shift. This shift is triggering remarkable changes in the biological communities beyond the decrease of phytoplankton and the proliferation of macrophytes, such as massive colonization of Simulidae (black fly) and other changes in the benthic invertebrate communities that are currently investigated. - Highlights: Black-Right-Pointing-Pointer We show a regime shift in a large river from phytoplankton to macrophyte dominance. Black-Right-Pointing-Pointer Two main hypotheses are considered: nutrient decrease and zebra mussel grazing. Black-Right-Pointing-Pointer Phosphorus depletion is found to be the main cause of the phytoplankton decline. Black-Right-Pointing-Pointer We conclude that oligotrophication triggered the colonization of macrophytes. Black-Right-Pointing-Pointer This new regime shift in a river is similar to that described
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International Nuclear Information System (INIS)
Ibáñez, Carles; Alcaraz, Carles; Caiola, Nuno; Rovira, Albert; Trobajo, Rosa; Alonso, Miguel; Duran, Concha; Jiménez, Pere J.; Munné, Antoni; Prat, Narcís
2012-01-01
The lower Ebro River (Catalonia, Spain) has recently undergone a regime shift from a phytoplankton-dominated to a macrophyte-dominated system. This shift is well known in shallow lakes but apparently it has never been documented in rivers. Two initial hypotheses to explain the collapse of the phytoplankton were considered: a) the diminution of nutrients (bottom-up); b) the filtering effect due to the colonization of the zebra mussel (top-down). Data on water quality, hydrology and biological communities (phytoplankton, macrophytes and zebra mussel) was obtained both from existing data sets and new surveys. Results clearly indicate that the decrease in phosphorus is the main cause of a dramatic decrease in chlorophyll and large increase in water transparency, triggering the subsequent colonization of macrophytes in the river bed. A Generalized Linear Model analysis showed that the decrease in dissolved phosphorus had a relative importance 14 times higher than the increase in zebra mussel density to explain the variation of total chlorophyll. We suggest that the described changes in the lower Ebro River can be considered a novel ecosystem shift. This shift is triggering remarkable changes in the biological communities beyond the decrease of phytoplankton and the proliferation of macrophytes, such as massive colonization of Simulidae (black fly) and other changes in the benthic invertebrate communities that are currently investigated. - Highlights: ► We show a regime shift in a large river from phytoplankton to macrophyte dominance. ► Two main hypotheses are considered: nutrient decrease and zebra mussel grazing. ► Phosphorus depletion is found to be the main cause of the phytoplankton decline. ► We conclude that oligotrophication triggered the colonization of macrophytes. ► This new regime shift in a river is similar to that described in shallow lakes.
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Proteus syndrome: A rare cause of gigantic limb.
Chakrabarti, Nandini; Chattopadhyay, Chandan; Bhuban, Majhi; Pal, Salil Kumar
2014-04-01
A congenital disorder with variable manifestations, including partial gigantism of the hands and feet with hypertrophy of soles, nevi, hemihypertrophy, gynecomastia, macrocephaly and other skull abnormalities, and abdominal lipomatosis. The cause is unknown, although a genetic origin, generally of autosomal-dominant transmission, has been conjectured. Symptoms can be treated, but there is no known cure. We present the case of a young male with grotesque overgrowth of the right lower limb, splenomegaly and multiple nevi. Angiography revealed venous malformation within the limb. The findings are in conformity to the criteria for the Proteus syndrome.
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Herrera, Raúl; Orantes, Carlos M; Almaguer, Miguel; Alfonso, Pedro; Bayarre, Héctor D; Leiva, Irma M; Smith, Magaly J; Cubias, Ricardo A; Torres, Carlos G; Almendárez, Walter O; Cubias, Francisco R; Morales, Fabrizio E; Magaña, Salvador; Amaya, Juan C; Perdomo, Edgard; Ventura, Mercedes C; Villatoro, Juan F; Vela, Xavier F; Zelaya, Susana M; Granados, Delmy V; Vela, Eduardo; Orellana, Patricia; Hevia, Reynaldo; Fuentes, E Jackeline; Mañalich, Reinaldo; Bacallao, Raymed; Ugarte, Mario; Arias, María I; Chávez, Jackelin; Flores, Nelson E; Aparicio, Claudia E
2014-04-01
Chronic kidney disease is a serious health problem in El Salvador. Since the 1990s, there has been an increase in cases unassociated with traditional risk factors. It is the second leading cause of death in men aged >18 years. In 2009, it was the first cause of in-hospital death for men and the fifth for women. The disease has not been thoroughly studied. Characterize clinical manifestations (including extrarenal) and pathophysiology of chronic kidney disease of nontraditional causes in Salvadoran farming communities. A descriptive clinical study was carried out in 46 participants (36 men, 10 women), identified through chronic kidney disease population screening of 5018 persons. Inclusion criteria were age 18-59 years; chronic kidney disease at stages 2, 3a and 3b, or at 3a and 3b with diabetes or hypertension and without proteinuria; normal fundoscopic exam; no structural abnormalities on renal ultrasound; and HIV-negative. Examinations included social determinants; psychological assessment; clinical exam of organs and systems; hematological and biochemical parameters in blood and urine; urine sediment analysis; markers of renal damage; glomerular and tubular function; and liver, pancreas and lung functions. Renal, prostate and gynecological ultrasound; and Doppler echocardiography and peripheral vascular and renal Doppler ultrasound were performed. Patient distribution by chronic kidney disease stages: 2 (32.6%), 3a (23.9%), 3b (43.5%). Poverty was the leading social determinant observed. Risk factor prevalence: agrochemical exposure (95.7%), agricultural work (78.3%), male sex (78.3%), profuse sweating during work (76.3%), malaria (43.5%), NSAID use (41.3%), hypertension (36.9%), diabetes (4.3%). General symptoms: arthralgia (54.3%), asthenia (52.2%), cramps (45.7%), fainting (30.4). Renal symptoms: nycturia (65.2%), dysuria (39.1%), foamy urine (63%). Markers of renal damage: macroalbuminuria (80.4%), ß2 microglobulin (78.2%), NGAL (26.1%). Renal function
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A dominant EV71-specific CD4+ T cell epitope is highly conserved among human enteroviruses.
Directory of Open Access Journals (Sweden)
Ruicheng Wei
Full Text Available CD4+ T cell-mediated immunity plays a central role in determining the immunopathogenesis of viral infections. However, the role of CD4+ T cells in EV71 infection, which causes hand, foot and mouth disease (HFMD, has yet to be elucidated. We applied a sophisticated method to identify promiscuous CD4+ T cell epitopes contained within the sequence of the EV71 polyprotein. Fifteen epitopes were identified, and three of them are dominant ones. The most dominant epitope is highly conserved among enterovirus species, including HFMD-related coxsackieviruses, HFMD-unrelated echoviruses and polioviruses. Furthermore, the CD4+ T cells specific to the epitope indeed cross-reacted with the homolog of poliovirus 3 Sabin. Our findings imply that CD4+ T cell responses to poliovirus following vaccination, or to other enteroviruses to which individuals may be exposed in early childhood, may have a modulating effect on subsequent CD4+ T cell response to EV71 infection or vaccine.
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Social dominance modulates eavesdropping in zebrafish
Abril-de-Abreu, Rodrigo; Cruz, Ana S.; Oliveira, Rui F.
2015-01-01
Group living animals may eavesdrop on signalling interactions between conspecifics and integrate it with their own past social experience in order to optimize the use of relevant information from others. However, little is known about this interplay between public (eavesdropped) and private social information. To investigate it, we first manipulated the dominance status of bystander zebrafish. Next, we either allowed or prevented bystanders from observing a fight. Finally, we assessed their behaviour towards the winners and losers of the interaction, using a custom-made video-tracking system and directional analysis. We found that only dominant bystanders who had seen the fight revealed a significant increase in directional focus (a measure of attention) towards the losers of the fights. Furthermore, our results indicate that information about the fighters' acquired status was collected from the signalling interaction itself and not from post-interaction status cues, which implies the existence of individual recognition in zebrafish. Thus, we show for the first time that zebrafish, a highly social model organism, eavesdrop on conspecific agonistic interactions and that this process is modulated by the eavesdroppers' dominance status. We suggest that this type of integration of public and private information may be ubiquitous in social learning processes. PMID:26361550
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Increasing dominance of IT in ICT convergence
DEFF Research Database (Denmark)
Henten, Anders; Tadayoni, Reza
The aim of the paper is to examine the increasing dominance of IT companies in the converging ICT industry and, on the basis of this development, to contribute to extending the theoretical understanding of market and industry convergence in the ICT area.......The aim of the paper is to examine the increasing dominance of IT companies in the converging ICT industry and, on the basis of this development, to contribute to extending the theoretical understanding of market and industry convergence in the ICT area....