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Sample records for syndrome type ii

  1. Aase-Smith Syndrome type II

    International Nuclear Information System (INIS)

    Soker, Murat; Ayyildiz, Orhan; Isikdogan, Abdurrahman

    2004-01-01

    Aase-Smith syndrome type II is a rare in childhood and there a few reported cases. Here, we report an 8-months-old boy with congenital red cell aplasia and triphalangeal thumbs. In addition to thumb anomalies. He presented with growth failure, hypertelorism and novel osseous radiologic abnormalities, large fontanelles and micrognathia as extraordinary. Some clinical symptoms had complete clinical remission with deflazacort treatment. (author)

  2. Successful Pregnancy Outcome In Maternal Crigler Najjar Syndrome Type II

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    Shakuntala PN

    2012-10-01

    Full Text Available Estimated incidence of Crigler-Najjar syndrome(CNS is 1 case per 1,000,000 births(1 million. The overall prevalence of CN syndrome is unknown, with only several hundred people reported to have this disease. It is interestingly very rare to encounter a pregnant adult women with congenital jaundice. Pregnancy in CN type II patients is a diagnostic and a therapeutic challenge because of the high risk of bilirubin encephalopathy with serious neurological damage as life-threatening complications for the fetus. To date 8 pregnancy outcome have been reported from 5 women and we report the6 woman with a successful 9 th pregnancy outcome. We have discussed detail history, presentation and management during pregnancy and care of the new born.

  3. Oral-facial-digital syndrome type II: Transitional type between Mohr ...

    African Journals Online (AJOL)

    We report a 2 months old boy, the first in order of birth of non-consanguineous parents, with several typical features of oral-facial-digital syndrome type II (OFDS II) including cleft lip, high arched palate, retromicrognathia, preaxial polysyndactyly of hands and feet, duplication of thumb and hallux. Interestingly, the patient also ...

  4. Primary Biliary Cirrhosis and Type II Autoimmune Polyglandular Syndrome

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    Mark Ram Borgaonkar

    1999-01-01

    Full Text Available A 45-year-old female was diagnosed with Hashimoto’s thyroiditis in 1976 and Addison’s disease in 1979. At that time, her antimitochondrial antibody (AMA level was elevated at 1:32. She subsequently developed premature ovarian failure and type I diabetes mellitus. In 1996, she became jaundiced with a cholestatic enzyme pattern. AMA was positive at a titre of 1:256. A liver biopsy confirmed the diagnosis of primary biliary cirrhosis (PBC. She underwent a liver transplantation in January 1998. This is the first report of PBC in association with type II autoimmune polyglandular syndrome. The association of PBC with other organ-specific autoimmune diseases supports an immune-mediated pathogenesis and may have implications in further studies of PBC.

  5. [Cochlear implantation in patients with Waardenburg syndrome type II].

    Science.gov (United States)

    Wan, Liangcai; Guo, Menghe; Chen, Shuaijun; Liu, Shuangriu; Chen, Hao; Gong, Jian

    2010-05-01

    To describe the multi-channel cochlear implantation in patients with Waardenburg syndrome including surgeries, pre and postoperative hearing assessments as well as outcomes of speech recognition. Multi-channel cochlear implantation surgeries have been performed in 12 cases with Waardenburg syndrome type II in our department from 2000 to 2008. All the patients received multi-channel cochlear implantation through transmastoid facial recess approach. The postoperative outcomes of 12 cases were compared with 12 cases with no inner ear malformation as a control group. The electrodes were totally inserted into the cochlear successfully, there was no facial paralysis and cerebrospinal fluid leakage occurred after operation. The hearing threshold in this series were similar to that of the normal cochlear implantation. After more than half a year of speech rehabilitation, the abilities of speech discrimination and spoken language of all the patients were improved compared with that of preoperation. Multi-channel cochlear implantation could be performed in the cases with Waardenburg syndrome, preoperative hearing and images assessments should be done.

  6. Increased incidence of neonatal respiratory distress in infants with mucopolysaccharidosis type II (MPS II, Hunter syndrome).

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    Dodsworth, Charlotte; Burton, Barbara K

    2014-02-01

    Records were reviewed on all patients with mucopolysaccharidosis type II (Hunter syndrome) seen at a single institution from 1999 to 2013 to identify those with a history of neonatal intensive care. Eleven of 34 patients were in a neonatal intensive care unit and all had respiratory distress with 8 diagnoses of respiratory distress syndrome and 3 of transient tachypnea of the newborn. None of the infants were premature; four were delivered by cesarean section. These findings suggest that respiratory distress is more commonly observed in neonates with MPS II than in the general population. This may reflect airway disease already present in this disorder at the time of birth. © 2013.

  7. Multiple long bone cysts revealed by MRI in trichorhinophalangeal syndrome type II predisposing to pathological fractures

    Energy Technology Data Exchange (ETDEWEB)

    Konala, Praveen; Cassar-Pullicino, Victor N. [The Robert Jones and Agnes Hunt Orthopaedic Hospital, Department of Radiology, Oswestry (United Kingdom); Kiely, Nigel [The Robert Jones and Agnes Hunt Orthopaedic Hospital, Department of Orthopaedic Surgery, Oswestry (United Kingdom); Noakes, Charlotte [Oxford University Hospital, The Oxford Genetics Laboratories, Oxford (United Kingdom); Blair, Edward [Oxford University Hospital, Department of Clinical Genetics, Oxford (United Kingdom)

    2017-07-15

    Trichorhinophalangeal syndrome type II is a rare genetic disorder with the few published case reports mainly reporting the radiographic skeletal manifestations. There are no published imaging reports of long bone cysts involving multiple bones in this condition. We report a unique case of bone cysts involving multiple long bones detected with MRI in a patient with trichorhinophalangeal syndrome type II complicated by a subsequent pathological fracture. It is possible that the bone cysts are a previously undescribed feature of this syndrome; however, the evidence is insufficient to establish a definite association. Chromosomal abnormality identified in this patient is consistent with trichorhinophalangeal syndrome type II with no unusual features. Although the nature of these bone cysts is unclear, they are one of the causes of the known increased fracture risk observed in this syndrome. (orig.)

  8. Rules for distinguishing toxicants that cause type I and type II narcosis syndromes.

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    Veith, G D; Broderius, S J

    1990-01-01

    Narcosis is a nonspecific reversible state of arrested activity of protoplasmic structures caused by a wide variety of organic chemicals. The vast majority of industrial organic chemicals can be characterized by a baseline structure-toxicity relationship as developed for diverse aquatic organisms, using only the n-octanol/water partition coefficient as a descriptor. There are, however, many apparent narcotic chemicals that are more toxic than baseline narcosis predicts. Some of these chemicals have been distinguished as polar narcotics. Joint toxic theory and isobole diagrams were used to show that chemicals strictly additive with phenol were generally more toxic than predicted by narcosis I models and characterized by a different mode of action called narcosis II syndrome. This type of toxicity is exemplified by certain amides, amines, phenols, and nitrogen heterocycles. Evidence is provided that suggests that narcosis II syndrome may result from the presence of a strong hydrogen bonding group on the molecule, and narcosis I syndrome results from hydrophobic bonding of the chemical to enzymes and/or membranes. This shift in toxic action is apparently indistinguishable for narcotic chemicals with log P greater than about 2.7. General rules for selecting the appropriate models are proposed. PMID:2269227

  9. Insulin gene polymorphisms in type 1 diabetes, Addison's disease and the polyglandular autoimmune syndrome type II

    Directory of Open Access Journals (Sweden)

    Hahner Stefanie

    2008-07-01

    Full Text Available Abstract Background Polymorphisms within the insulin gene can influence insulin expression in the pancreas and especially in the thymus, where self-antigens are processed, shaping the T cell repertoire into selftolerance, a process that protects from β-cell autoimmunity. Methods We investigated the role of the -2221Msp(C/T and -23HphI(A/T polymorphisms within the insulin gene in patients with a monoglandular autoimmune endocrine disease [patients with isolated type 1 diabetes (T1D, n = 317, Addison's disease (AD, n = 107 or Hashimoto's thyroiditis (HT, n = 61], those with a polyglandular autoimmune syndrome type II (combination of T1D and/or AD with HT or GD, n = 62 as well as in healthy controls (HC, n = 275. Results T1D patients carried significantly more often the homozygous genotype "CC" -2221Msp(C/T and "AA" -23HphI(A/T polymorphisms than the HC (78.5% vs. 66.2%, p = 0.0027 and 75.4% vs. 52.4%, p = 3.7 × 10-8, respectively. The distribution of insulin gene polymorphisms did not show significant differences between patients with AD, HT, or APS-II and HC. Conclusion We demonstrate that the allele "C" of the -2221Msp(C/T and "A" -23HphI(A/T insulin gene polymorphisms confer susceptibility to T1D but not to isolated AD, HT or as a part of the APS-II.

  10. Genetics Home Reference: bare lymphocyte syndrome type II

    Science.gov (United States)

    ... Immunodeficiency Disorders Health Topic: Immune System and Disorders Genetic and Rare Diseases Information Center (1 link) Bare lymphocyte syndrome 2 Additional NIH Resources (1 link) National Institute of Allergy and Infectious Diseases: Primary Immune Deficiency Diseases Educational Resources (6 ...

  11. Genetic analysis of a Chinese family with members affected with Usher syndrome type II and Waardenburg syndrome type IV.

    Science.gov (United States)

    Wang, Xueling; Lin, Xiao-Jiang; Tang, Xiangrong; Chai, Yong-Chuan; Yu, De-Hong; Chen, Dong-Ye; Wu, Hao

    2017-11-01

    The purpose of this study was to identify the genetic causes of a family presenting with multiple symptoms overlapping Usher syndrome type II (USH2) and Waardenburg syndrome type IV (WS4). Targeted next-generation sequencing including the exon and flanking intron sequences of 79 deafness genes was performed on the proband. Co-segregation of the disease phenotype and the detected variants were confirmed in all family members by PCR amplification and Sanger sequencing. The affected members of this family had two different recessive disorders, USH2 and WS4. By targeted next-generation sequencing, we identified that USH2 was caused by a novel missense mutation, p.V4907D in GPR98; whereas WS4 due to p.V185M in EDNRB. This is the first report of homozygous p.V185M mutation in EDNRB in patient with WS4. This study reported a Chinese family with multiple independent and overlapping phenotypes. In condition, molecular level analysis was efficient to identify the causative variant p.V4907D in GPR98 and p.V185M in EDNRB, also was helpful to confirm the clinical diagnosis of USH2 and WS4. Copyright © 2017 Elsevier B.V. All rights reserved.

  12. Sturge-Weber syndrome type II treated with PDL 595 nm laser

    OpenAIRE

    Kowalska-Brocka, Joanna; Brocki, Maciej; Uczniak, Sebastian; Uczniak, Kamila; Kaszuba, Andrzej; Jurowski, Piotr

    2015-01-01

    Sturge-Weber syndrome (SWS) is rare congenital disorder presenting facial port-wine stains (PWS) eye abnormalities and cerebrovascular malformations. The frequency of SWS is estimated at 1 in 50 000. Cerebrovascular abnormalities can be responsible for seizures, hemiparesis, mental retardation and ophthalmologic abnormalities cause intraocular pressure, glaucoma. Etiopathogenesis of SWS remains elusive. We present a case of a 7-year-old girl with SWS type II. A port-wine stain involves the up...

  13. Why is coronary collateral growth impaired in type II diabetes and the metabolic syndrome?

    Science.gov (United States)

    Rocic, Petra

    2012-01-01

    Type II diabetes and the metabolic syndrome are strong predictors of severity of occlusive coronary disease and poorer outcomes of coronary revascularization therapies. Coronary collateral growth can provide an alternative or accessory pathway of revascularization. However, collateral growth is impaired in type II diabetes and the metabolic syndrome. Although many factors necessary for collateral growth are known and many interventions have shown promising results in animal studies, not a single attempt to induce coronary collateral growth in human clinical trials has led to satisfactory results. Accordingly, the first part of this review outlines the known deleterious effects of diabetes and the metabolic syndrome on factors necessary for collateral growth, including pro-angiogenic growth factors, endothelial function, the redox state of the coronary circulation, intracellular signaling, leukocytes and bone marrow-derived progenitors cells. The second section highlights the gaps in our current knowledge of how these factors interact with the radically altered environment of the coronary circulation in diabetes and the metabolic syndrome. The interplay between these pathologies and inadequately explored areas related to the temporal regulation of collateral remodeling and the roles of the extracellular matrix, vascular cell phenotype and pro-inflammatory cytokines are emphasized with implications to development of efficient therapies. PMID:22342811

  14. [Dragged disc syndrome in a patient presenting neurofibromatosis type II: a case study].

    Science.gov (United States)

    Gicquel, J-J; Vabres, P; Mercié, M; Klossek, J-M; Dighiero, P

    2005-05-01

    We report a case of dragged disc syndrome associated with neurofibromatosis type II (NF2). A 5-year-old girl with amblyopia (right eye, 20/200; left eye, 20/40) presented with dragged disk syndrome and a posterior subcapsular cataract in the left eye associated with an epiretinal membrane in the right eye. Five years later, she developed exophthalmos in the right eye associated with a cervical mass. MRI revealed schwannoma developing in the left optic nerve sheath associated with a cervicothoracic schwannoma. The child was diagnosed with NF2. Association of posterior subcapsular cataract with macular epiretinal membranes is highly suggestive of NF2, although the dragged disk syndrome has not been previously reported in NF2 to our knowledge. It may also be an ocular feature of this disease.

  15. EDNRB mutations cause Waardenburg syndrome type II in the heterozygous state.

    Science.gov (United States)

    Issa, Sarah; Bondurand, Nadege; Faubert, Emmanuelle; Poisson, Sylvain; Lecerf, Laure; Nitschke, Patrick; Deggouj, Naima; Loundon, Natalie; Jonard, Laurence; David, Albert; Sznajer, Yves; Blanchet, Patricia; Marlin, Sandrine; Pingault, Veronique

    2017-05-01

    Waardenburg syndrome (WS) is a genetic disorder characterized by sensorineural hearing loss and pigmentation anomalies. The clinical definition of four WS types is based on additional features due to defects in structures mostly arising from the neural crest, with type I and type II being the most frequent. While type I is tightly associated to PAX3 mutations, WS type II (WS2) remains partly enigmatic with mutations in known genes (MITF, SOX10) accounting for only 30% of the cases. We performed exome sequencing in a WS2 index case and identified a heterozygous missense variation in EDNRB. Interestingly, homozygous (and very rare heterozygous) EDNRB mutations are already described in type IV WS (i.e., in association with Hirschsprung disease [HD]) and heterozygous mutations in isolated HD. Screening of a WS2 cohort led to the identification of an overall of six heterozygous EDNRB variations. Clinical phenotypes, pedigrees and molecular segregation investigations unraveled a dominant mode of inheritance with incomplete penetrance. In parallel, cellular and functional studies showed that each of the mutations impairs the subcellular localization of the receptor or induces a defective downstream signaling pathway. Based on our results, we now estimate EDNRB mutations to be responsible for 5%-6% of WS2. © 2017 Wiley Periodicals, Inc.

  16. Clinical and genetic investigation of families with type II Waardenburg syndrome.

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    Chen, Yong; Yang, Fuwei; Zheng, Hexin; Zhou, Jianda; Zhu, Ganghua; Hu, Peng; Wu, Weijing

    2016-03-01

    The present study aimed to investigate the molecular pathology of Waardenburg syndrome type II in three families, in order to provide genetic diagnosis and hereditary counseling for family members. Relevant clinical examinations were conducted on the probands of the three pedigrees. Peripheral blood samples of the probands and related family members were collected and genomic DNA was extracted. The coding sequences of paired box 3 (PAX3), microphthalmia‑associated transcription factor (MITF), sex‑determining region Y‑box 10 (SOX10) and snail family zinc finger 2 (SNAI2) were analyzed by polymerase chain reaction and DNA sequencing. The heterozygous mutation, c.649_651delAGA in exon 7 of the MITF gene was detected in the proband and all patients of pedigree 1; however, no pathological mutation of the relevant genes (MITF, SNAI2, SOX10 or PAX3) was detected in pedigrees 2 and 3. The heterozygous mutation c.649_651delAGA in exon 7 of the MITF gene is therefore considered the disease‑causing mutation in pedigree 1. However, there are novel disease‑causing genes in Waardenburg syndrome type II, which require further research.

  17. Dental implants as Treatment Option in Patients With Osteopenic Syndrome and Type II Diabetes

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    M.V. Kozlova

    2009-06-01

    Full Text Available One of the important problems in modern dentistry is the study of jaw bone changes associated with type II diabetes. The aim of this study is to evaluate the influence of osteopenic syndrome on osseointegration when using dental implants in patients with type II diabetes. 40 patients with type II diabetes have been evaluated and assigned to two different groups based on the duration of the disease. Including criteria in patients with compensated diabetes were fasting glucose test results <6 mM/l and glycohemoglobin concentration ≤6%. All patients have been evaluated by means of dual energy X-ray absorptiometry on Discovery W densitometer by HOLOGIC. Laboratory blood markers have been used to assess the rate of metabolic processes. 43 implants have been fixed in both groups and maxillary sinus lifting has been applied in 4 cases. No immediate or late post -operative complications have been registered. In cases of disease duration over 5 years and presence of osteopenia the period of surgical wound healing has been prolongated.

  18. De novo dominant mutation of SOX10 gene in a Chinese family with Waardenburg syndrome type II.

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    Chen, Kaitian; Zong, Ling; Liu, Min; Zhan, Yuan; Wu, Xuan; Zou, Wenting; Jiang, Hongyan

    2014-06-01

    Waardenburg syndrome is a rare genetic disorder, inherited as an autosomal dominant trait. The condition is characterized by sensorineural hearing loss and pigment disturbances of the hair, skin, and iris. The de novo mutation in the SOX10 gene, responsible for Waardenburg syndrome type II, is rarely seen. The present study aimed to identify the genetic causes of Waardenburg syndrome type II in a Chinese family. Clinical and molecular evaluations were conducted in a Chinese family with Waardenburg syndrome type II. A novel SOX10 heterozygous c.259-260delCT mutation was identified. Heterozygosity was not observed in the parents and sister of the proband, indicating that the mutation has arisen de novo. The novel frameshift mutation, located in exon 3 of the SOX10 gene, disrupted normal amino acid coding from Leu87, leading to premature termination at nucleotide 396 (TGA). The high mobility group domain of SOX10 was inferred to be partially impaired. The novel heterozygous c.259-260delCT mutation in the SOX10 gene was considered to be the cause of Waardenburg syndrome in the proband. The clinical and genetic characterization of this family would help elucidate the genetic heterogeneity of SOX10 in Waardenburg syndrome type II. Moreover, the de novo pattern expanded the mutation data of SOX10. Copyright © 2014 Elsevier Ireland Ltd. All rights reserved.

  19. Candidate regions for Waardenburg syndrome type II: Search for a second WS locus

    Energy Technology Data Exchange (ETDEWEB)

    Nance, W.E.; Pandya, A.; Blanton, S.H. [VA Commonwealth Univ, Richmond, VA (United States)] [and others

    1994-09-01

    Waardenburg syndrome is an autosomal dominant disorder characterized by deafness and pigmentary abnormalities such as heterochromia of irides, hypopigmented skin patches, white forlock and premature graying. Clinically the syndrome has been classified into three types. Type II differs from type I in that dystopia canthorum is generally absent, and type III has associated limb anomalies. Recently linkage analysis localized the gene for WSI to chromosome 2q. PAX-3, which is a human analogue of the murine pax-3 locus, maps to this region and mutations in this gene have been found to segregate with WSI. However genetic heterogeneity clearly exists: most if not all WSII families are unlinked to PAX-3 while most if not all WSI cases are linked. We ascertained a four-year-old female child with an interstitial deletion of chromosome 13 who had features of WS including bilateral congenital sensorineural hearing loss, pale blue irides and pinched nostrils as well as hypertelorism microcephaly, bilateral eyelid ptosis, digitalization of thumbs and fifth finger clinodactyly. High resolution chromosomal analysis revealed a de novo interstitial deletion of 13q22-33.2. There was no family history of WS or retardation. A similar deletion in the region of 13q21-32 has been described in a 13-year-old boy with features of WSII. These two cases strongly suggested that this chromosomal region may include a second locus for WS. We have identified eight families with clinical features of WS type I which have been excluded from linkage to the PAX-3 locus. We have typed these families for microsatellite markers spanning chromosome 13. Linkage between WSII and the chromosome 13 markers was excluded in these families. Hirschsprung disease has been associated with WS and it has recently been mapped to chromosome 10q11.2-q21.1. We are currently typing the 8 families for microsatellites in this region.

  20. X-linked albinism-deafness syndrome and Waardenburg syndrome type II: A hypothesis

    Energy Technology Data Exchange (ETDEWEB)

    Zlotogora, J. [Hadassah Univ. Hospital, Jerusalem (Israel)

    1995-11-20

    Margolis reported on a large pedigree with a {open_quotes}new{close_quotes} X-linked syndrome of profound deafness and albinism (MIM 300700, albinism-deafness syndrome). The affected males presented with profound deafness and severe pigmentary abnormalities of the skin. At birth the skin appeared as almost albinotic except for areas of light pigmentation over the gluteal and scrotal areas, and thereafter pigmentation gradually increased over the body. Skin changes ultimately included areas of hypopigmentation and spots of hyperpigmentation. Some of the affected males also had blue irides, heterochromia, or segmental color iris changes. In carrier females, variable hearing impairment was documented without any pigmentary changes. 9 refs., 1 fig.

  1. Myopathic EMG findings and type II muscle fiber atrophy in patients with Lambert-Eaton myasthenic syndrome

    DEFF Research Database (Denmark)

    Crone, Clarissa; Christiansen, Ingelise; Vissing, John

    2013-01-01

    Lambert-Eaton myasthenic syndrome (LEMS) is a rare condition, which may mimic myopathy. A few reports have described that EMG in LEMS may show changes compatible with myopathy, and muscle biopsies have been described with type II as well as type I atrophy. The EMG results were, however, based...

  2. [Clinical classification and genetic mutation study of two pedigrees with type II Waardenburg syndrome].

    Science.gov (United States)

    Chen, Yong; Yang, Fuwei; Zheng, Hexin; Zhu, Ganghua; Hu, Peng; Wu, Weijing

    2015-12-01

    To explore the molecular etiology of two pedigrees affected with type II Waardenburg syndrome (WS2) and to provide genetic diagnosis and counseling. Blood samples were collected from the proband and his family members. Following extraction of genomic DNA, the coding sequences of PAX3, MITF, SOX10 and SNAI2 genes were amplified with PCR and subjected to DNA sequencing to detect potential mutations. A heterozygous deletional mutation c.649_651delAGA in exon 7 of the MITF gene has been identified in all patients from the first family, while no mutation was found in the other WS2 related genes including PAX3, MITF, SOX10 and SNAI2. The heterozygous deletion mutation c.649_651delAGA in exon 7 of the MITF gene probably underlies the disease in the first family. It is expected that other genes may also underlie WS2.

  3. Multimodal image analysis of the retina in Hunter syndrome (mucopolysaccharidosis type II): Case report.

    Science.gov (United States)

    Salvucci, Isadora Darriba Macedo; Finzi, Simone; Oyamada, Maria Kiyoko; Kim, Chong Ae; Pimentel, Sérgio Luis Gianotti

    2018-01-01

    We report a case of retinal and posterior ocular findings in a 33-year-old man diagnosed with Hunter syndrome (Mucopolysaccharidosis type II) in a multimodal imaging way. Our patient was complaining of blurred night vision for the past 3 years. He had not received any systemic treatment for Hunter syndrome. Vision acuity was 20/20 in both eyes and corneas were clear. Fundus examination revealed bilateral crowded and hyperemic optic nerve heads (elevated in the ocular ultrasound) and areas of subretinal hypopigmentation. There was hyperautofluorescence at the central fovea and perifovea, and a diffuse bilateral choroidal fluorescence in angiography. Macular SD-OCT showed a thinning of the external retina at the perifovea in both eyes. Visual field testing showed a bilateral ring scotoma. The full field ERG was subnormal, with a negative response in the scotopic phase. Visual Evoked Potencial test and cranial MRI were normal. Our multimodal analysis reported here attempted to contribute to the knowledge of the natural history of GAG deposition in the eye, focusing on the retina and retinal pigment epithelium. Defining this natural history is essential for a proper comparison with Hunter patients receiving systemic treatment, thus determining if it can or cannot improve retinal function in humans with this disorder.

  4. Effect of Blood Glucose Fluctuation on Some Trace Elements and Aldosterone Hormone among Type II Diabetic Patients with Metabolic Syndrome

    International Nuclear Information System (INIS)

    Ezz El-Arab, A.; El Fouly, A.H.; Mahmoud, H.H.

    2014-01-01

    There is accumulating evidence determine that the metabolism of some trace elements is altered in diabetes mellitus (DM) type II. The current study aimed to evaluate the effect of serum blood glucose fluctuation during (Random, Fasting and Postprandial 2 hours state) on some trace elements such as Cadmium (Cd), Chromium (Cr), Manganese (Mn), Magnesium (Mg), Zinc (Zn), Copper (Cu), Sodium (Na), Potassium (K), and Aldosterone hormone in type II Diabetic patients associated with metabolic syndrome in comparison with healthy volunteers. The International Diabetes Federation (IFD) consensus the diagnosis of metabolic syndrome according to central obesity, lipid profile, blood glucose level and blood pressure. A significant change was observed in trace elements level (Cd, Cr, Mg, Mn, Zn, Cu, Na, and K) and Aldosterone hormone as a result of glucose fluctuation among type II diabetic patients.

  5. (GPR98) gene in an Iranian family with Usher syndrome type II

    Indian Academy of Sciences (India)

    2014-12-04

    Dec 4, 2014 ... Usher syndrome (USH) is an autosomal recessive disease characterized by bilateral sensorineural ... Usher syndrome type 1 (USH1) which is manifested by severe to profound congenital ... down-sloping moderate sensorineural HL across all frequencies in this family. (c) Segregation of c.10019T>G (p.

  6. Clinical efficacy of terlipressin in treatment of type II hepatorenal syndrome

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    DING Xiaohong

    2015-05-01

    Full Text Available ObjectiveTo investigate the clinical efficacy of domestic terlipressin in the treatment of type II hepatorenal syndrome (HRS-II. MethodsA total of 25 HRS-II patients admitted to our hospital from November 2011 to June 2014 were recruited into the treatment group, and 28 HRS-II patients treated with dopamine before 2011 were recruited into the control group. Patients in the treatment group were randomly divided into two subgroups: one subgroup (n=12 was given terlipressin once every 8 h, and the other subgroup (n=13 was given terlipressin once every 12 h. Both groups received albumin (Alb infusion to expand the blood volume before treatment with terlipressin or dopamine, and the course of treatment was 7 days. The improvement in clinical symptoms, levels of blood urea nitrogen (BUN, serum creatinine and electrolytes, urine volume, changes in liver function, and ascites disappearance in the two groups before and after treatment were compared. Comparison of categorical data between the two groups was made by χ2 test, and comparison of continuous data was made by t test. ResultsPatients in the control group showed no obvious symptom relief, but those in the treatment group had varying degrees of improvement in clinical symptoms. Neither group had significant changes in liver function and serum sodium level after treatment. The treatment group had significantly more patients whose ascites volume had decreased from large to medium than the control group (χ2=5.705, P<0.05. There was a slight but not significant decrease in the levels of BUN and serum creatinine in the control group after treatment with dopamine (all P>0.05, whereas the urine volume showed significant difference after the treatment (t=15.534, P<0.01. The treatment group showed significant differences in the levels of BUN and serum creatinine and urine volume after terlipressin treatment (t=11.535, 9.941, and 19.685, respectively; all P<0.01, and significant differences in

  7. Usher's Syndrome Type II: A Comparative Study of Genetic Mutations and Vestibular System Evaluation.

    Science.gov (United States)

    Magliulo, Giuseppe; Iannella, Giannicola; Gagliardi, Silvia; Iozzo, Nicola; Plateroti, Rocco; Mariottini, Alessandro; Torricelli, Francesca

    2017-11-01

    Objective Usher's syndrome type II (USH2) is characterized by moderate to profound congenital hearing loss, later onset of retinitis pigmentosa, and normal vestibular function. Recently, a study investigating the vestibular function of USH2 patients demonstrated a pathologic response to vestibular tests. In this cross-sectional study we performed vestibular tests of a group patients with genetic diagnosis of USH2 syndrome to demonstrate if vestibular damage is present in USH2 patients. Study Design Cross-sectional study. Setting Tertiary referral center. Subjects and Methods Mutated genes of 7 patients with a clinical diagnosis of USH2 were evaluated. Vestibular function was investigated by audiometry, Fitzgerald-Hallpike caloric vestibular testing, cervical vestibular evoked myogenic potentials (C-VEMPs), ocular vestibular evoked myogenic potentials (O-VEMPs), and video head impulse test (v-HIT). Results Genetic tests confirmed the USH2 diagnosis in 5 of 7 patients examined, with 1 patient reporting a unique mutation on genetic tests. Four (80%) of the 5 patients with a genetic diagnosis of USH2 showed pathological O-VEMPs. Two patients (40%) reported bilateral absent or abnormal values of C-VEMPs. The superior semicircular canal presented a significant deficit in 2 (40%) patients. The same 2 cases showed a pathologic response of the v-HIT of the horizontal semicircular canal. Finally, the posterior semicircular canal presented a significant deficit in 4 (40.0%) patients. Conclusion A vestibular evaluation with vestibular evoked myogenic potentials and v-HIT seems to identify latent damage to the vestibular receptors of USH2 patients.

  8. [Molecular pathogenesis of Waardenburg syndrome type II resulting from SOX10 gene mutation].

    Science.gov (United States)

    Zhang, Hua; Chen, Hongsheng; Feng, Yong; Qian, Minfei; Li, Jiping; Liu, Jun; Zhang, Chun

    2016-08-01

    To explore the molecular mechanism of Waardenburg syndrome type II (WS2) resulting from SOX10 gene mutation E248fs through in vitro experiment. 293T cells were transiently transfected with wild type (WT) SOX10 and mutant type (MT) E248fs plasmids. The regulatory effect of WT/MT SOX10 on the transcriptional activity of MITF gene and influence of E248fs on WT SOX10 function were determined with a luciferase activity assay. The DNA binding capacity of the WT/MT SOX10 with the promoter of the MITF gene was determined with a biotinylated double-stranded oligonucleotide probe containing the SOX10 binding sequence cattgtc to precipitate MITF and E248fs, respectively. The stability of SOX10 and E248fs were also analyzed. As a loss-of-function mutation, the E248fs mutant failed to transactivate the MITF promoter as compared with the WT SOX10 (P<0.01), which also showed a dominant-negative effect on WT SOX10. The WT SOX10 and E248fs mutant were also able to bind specifically to the cattgtc motif in the MITF promoter, whereas E248fs had degraded faster than WT SOX10. Despite the fact that the E248fs has a dominant-negative effect on SOX10, its reduced stability may down-regulate the transcription of MITF and decrease the synthesis of melanin, which may result in haploinsufficiency of SOX10 protein and cause the milder WS2 phenotype.

  9. Genetic and phenotypic heterogeneity in Chinese patients with Waardenburg syndrome type II.

    Directory of Open Access Journals (Sweden)

    Shuzhi Yang

    Full Text Available Waardenburg Syndrome (WS is an autosomal-dominant disorder characterized by sensorineural hearing loss and pigmentary abnormalities of the eyes, hair, and skin. Microphthalmia-associated transcription factor (MITF gene mutations account for about 15% of WS type II (WS2 cases. To date, fewer than 40 different MITF gene mutations have been identified in human WS2 patients, and few of these were of Chinese descent. In this study, we report clinical findings and mutation identification in the MITF gene of 20 Chinese WS2 patients from 14 families. A high level of clinical variability was identified. Sensorineural hearing loss (17/20, 85.0% and heterochromia iridum (20/20, 100.0% were the most commonly observed clinical features in Chinese WS2 patients. Five affected individuals (5/20, 25.0% had numerous brown freckles on the face, trunk, and limb extremities. Mutation screening of the MITF gene identified five mutations: c.20A>G, c.332C>T, c.647_649delGAA, c.649A>G, and c.763C>T. The total mutational frequency of the MITF gene was 21.4% (3/14, which is significantly higher than the 15.0% observed in the fair-skinned WS2 population. Our results indicate that MITF mutations are relatively common among Chinese WS2 patients.

  10. Genetic and phenotypic heterogeneity in Chinese patients with Waardenburg syndrome type II.

    Science.gov (United States)

    Yang, Shuzhi; Dai, Pu; Liu, Xin; Kang, Dongyang; Zhang, Xin; Yang, Weiyan; Zhou, Chengyong; Yang, Shiming; Yuan, Huijun

    2013-01-01

    Waardenburg Syndrome (WS) is an autosomal-dominant disorder characterized by sensorineural hearing loss and pigmentary abnormalities of the eyes, hair, and skin. Microphthalmia-associated transcription factor (MITF) gene mutations account for about 15% of WS type II (WS2) cases. To date, fewer than 40 different MITF gene mutations have been identified in human WS2 patients, and few of these were of Chinese descent. In this study, we report clinical findings and mutation identification in the MITF gene of 20 Chinese WS2 patients from 14 families. A high level of clinical variability was identified. Sensorineural hearing loss (17/20, 85.0%) and heterochromia iridum (20/20, 100.0%) were the most commonly observed clinical features in Chinese WS2 patients. Five affected individuals (5/20, 25.0%) had numerous brown freckles on the face, trunk, and limb extremities. Mutation screening of the MITF gene identified five mutations: c.20A>G, c.332C>T, c.647_649delGAA, c.649A>G, and c.763C>T. The total mutational frequency of the MITF gene was 21.4% (3/14), which is significantly higher than the 15.0% observed in the fair-skinned WS2 population. Our results indicate that MITF mutations are relatively common among Chinese WS2 patients.

  11. Genetic and Phenotypic Heterogeneity in Chinese Patients with Waardenburg Syndrome Type II

    Science.gov (United States)

    Yang, Shuzhi; Dai, Pu; Liu, Xin; Kang, Dongyang; Zhang, Xin; Yang, Weiyan; Zhou, Chengyong; Yang, Shiming; Yuan, Huijun

    2013-01-01

    Waardenburg Syndrome (WS) is an autosomal-dominant disorder characterized by sensorineural hearing loss and pigmentary abnormalities of the eyes, hair, and skin. Microphthalmia-associated transcription factor (MITF) gene mutations account for about 15% of WS type II (WS2) cases. To date, fewer than 40 different MITF gene mutations have been identified in human WS2 patients, and few of these were of Chinese descent. In this study, we report clinical findings and mutation identification in the MITF gene of 20 Chinese WS2 patients from 14 families. A high level of clinical variability was identified. Sensorineural hearing loss (17/20, 85.0%) and heterochromia iridum (20/20, 100.0%) were the most commonly observed clinical features in Chinese WS2 patients. Five affected individuals (5/20, 25.0%) had numerous brown freckles on the face, trunk, and limb extremities. Mutation screening of the MITF gene identified five mutations: c.20A>G, c.332C>T, c.647_649delGAA, c.649A>G, and c.763C>T. The total mutational frequency of the MITF gene was 21.4% (3/14), which is significantly higher than the 15.0% observed in the fair-skinned WS2 population. Our results indicate that MITF mutations are relatively common among Chinese WS2 patients. PMID:24194866

  12. FISH approach to determine cat eye syndrome chromosome breakpoints of a patient with cat eye syndrome type II.

    Science.gov (United States)

    Gentile, M; De Sanctis, S; Cariola, F; Spezzi, T; Di Carlo, A; Tontoli, F; Lista, F; Buonadonna, A L

    2005-01-01

    We report a 19-year-old man with craniofacial dysmorphic features, anorectal malformations, eye colobomas, orthopaedic anomalies, and mild neurodevelopmental delay. Cat eye syndrome (CES) was suspected, and confirmed by cytogenetic analysis which showed the presence of a supernumerary bisatellited chromosome, identified by fluorescence in situ hybridization (FISH) as invdup(22). The marker was further analyzed with six BAC clones located at the 22q11.1 and 22q11.2 regions; this analysis allowed correct assignment at low copy repeat 4 on chromosome 22 (LCR22-4) of the two breakpoints, confirming the presence of a CES chromosome type II. The patient's phenotype is considered in the light of the cytogenetic, and FISH investigations results and other patients reported in literature. Molecular definition of the breakpoints at the LCR22-4 copy confirms the role of different chromosome 22-specific LCRs in CES chromosomes generation, as well as in other chromosome 22 germ line rearrangements. Our report confirms that, unlike other conditions, i.e. the invdup(15) bisatellited dicentric marker, the CES phenotype does not appear to correlate with the size of the marker chromosome. Additional cases are necessary to be able to draw more specific genotype-phenotype correlations and to determine the outcome of patients with CES, especially when this rare condition is diagnosed in prenatal age.

  13. Molecular etiology and genotype-phenotype correlation of Chinese Han deaf patients with type I and type II Waardenburg Syndrome

    Science.gov (United States)

    Sun, Lianhua; Li, Xiaohua; Shi, Jun; Pang, Xiuhong; Hu, Yechen; Wang, Xiaowen; Wu, Hao; Yang, Tao

    2016-01-01

    Waardenburg syndrome (WS) characterized by sensorineural hearing loss and pigmentary abnormalities is genetically heterogeneous and phenotypically variable. This study investigated the molecular etiology and genotype-phenotype correlation of WS in 36 Chinese Han deaf probands and 16 additional family members that were clinically diagnosed with WS type I (WS1, n = 8) and type II (WS2, n = 42). Mutation screening of six WS-associated genes detected PAX3 mutations in 6 (86%) of the 7 WS1 probands. Among the 29 WS2 probands, 13 (45%) and 10 (34%) were identified with SOX10 and MITF mutations, respectively. Nineteen of the 26 detected mutations were novel. In WS2 probands whose parental DNA samples were available, de novo mutations were frequently seen for SOX10 mutations (7/8) but not for MITF mutations (0/5, P = 0.005). Excessive freckle, a common feature of WS2 in Chinese Hans, was frequent in WS2 probands with MITF mutations (7/10) but not in those with SOX10 mutations (0/13, P = 4.9 × 10−4). Our results showed that mutations in SOX10 and MITF are two major causes for deafness associated with WS2. These two subtypes of WS2 can be distinguished by the high de novo rate of the SOX10 mutations and the excessive freckle phenotype exclusively associated with the MITF mutations. PMID:27759048

  14. Loeys-Dietz syndrome type I and type II: clinical findings and novel mutations in two Italian patients

    Directory of Open Access Journals (Sweden)

    Calzavara-Pinton Pier

    2009-11-01

    Full Text Available Abstract Background Loeys-Dietz syndrome (LDS is a rare autosomal dominant disorder showing the involvement of cutaneous, cardiovascular, craniofacial, and skeletal systems. In particular, LDS patients show arterial tortuosity with widespread vascular aneurysm and dissection, and have a high risk of aortic dissection or rupture at an early age and at aortic diameters that ordinarily are not predictive of these events. Recently, LDS has been subdivided in LDS type I (LDSI and type II (LDSII on the basis of the presence or the absence of cranio-facial involvement, respectively. Furthermore, LDSII patients display at least two of the major signs of vascular Ehlers-Danlos syndrome. LDS is caused by mutations in the transforming growth factor (TGF beta-receptor I (TGFBR1 and II (TGFBR2 genes. The aim of this study was the clinical and molecular characterization of two LDS patients. Methods The exons and intronic flanking regions of TGFBR1 and TGFBR2 genes were amplified and sequence analysis was performed. Results Patient 1 was a boy showing dysmorphic signs, blue sclerae, high-arched palate, bifid uvula; skeletal system involvement, joint hypermobility, velvety and translucent skin, aortic root dilatation, tortuosity and elongation of the carotid arteries. These signs are consistent with an LDSI phenotype. The sequencing analysis disclosed the novel TGFBR1 p.Asp351Gly de novo mutation falling in the kinase domain of the receptor. Patient 2 was an adult woman showing ascending aorta aneurysm, with vascular complications following surgery intervention. Velvety and translucent skin, venous varicosities and wrist dislocation were present. These signs are consistent with an LDSII phenotype. In this patient and in her daughter, TGFBR2 genotyping disclosed in the kinase domain of the protein the novel p.Ile510Ser missense mutation. Conclusion We report two novel mutations in the TGFBR1 and TGFBR2 genes in two patients affected with LDS and showing marked

  15. Acute Type II Aortic Dissection with Severe Aortic Regurgitation and Chronic Descending Aortic Dissection in Pregnant Patient with Marfan Syndrome

    OpenAIRE

    Lee, Seok-Soo; Jung, Tae-Eun; Lee, Dong Hyup

    2012-01-01

    Aortic dilatation and dissection are severe complications during pregnancy that can be fatal to both the mother and the fetus. The risks of these complications are especially high in pregnant patients with Marfan syndrome; however, incidents of descending aortic dissection are very rare. This case report involves a successful Bentall procedure for and recovery from a rare aortic dissection in a pregnant Marfan patient who developed acute type II aortic dissection with severe aortic regurgitat...

  16. Retroviral sequences related to human T-lymphotropic virus type II in patients with chronic fatigue immune dysfunction syndrome

    International Nuclear Information System (INIS)

    DeFreitas, E.; Hilliard, B.; Cheney, P.R.; Bell, D.S.; Kiggundu, E.; Sankey, D.; Wroblewska, Z.; Palladino, M.; Woodward, J.P.; Koprowski, H.

    1991-01-01

    Chronic fatigue immune dysfunction syndrome (CFIDS) is a recently recognized illness characterized by debilitating fatigue as well as immunological and neurological abnormalities. Once thought to be caused by Epstein-Barr virus, it is now thought to have a different but unknown etiology. The authors evaluted 30 adult and pediatric CFIDS patients from six eastern states for the presence of human T-lymphotropic virus (HTLV) types I and II by Western immunoblotting, polymerase chain reaction, and in situ hybridization of blood samples. The majority of patients were positive for HTLV antibodies by Western blotting and for HTLV-II gag sequences by polymerase chain reaction and in situ hybridization. Twenty nonexposure healthy controls were negative in all assays. These data support an association between an HTLV-II-like virus and CFIDS

  17. Identification of 17 novel mutations in 40 Argentinean unrelated families with mucopolysaccharidosis type II (Hunter syndrome

    Directory of Open Access Journals (Sweden)

    H. Amartino

    2014-01-01

    Full Text Available Mucopolysaccharidosis type II (MPSII is an X-linked lysosomal storage disorder caused by deficiency of the enzyme iduronate-2-sulfatase (IDS. The human IDS gene is located in chromosome Xq28. This is the first report of genotype and phenotype characterization of 49 Hunter patients from 40 families of Argentina. Thirty different alleles have been identified, and 57% were novel. The frequency of de novo mutations was 10%. Overall, the percentage of private mutations in our series was 75%.

  18. Acute Type II Aortic Dissection with Severe Aortic Regurgitation and Chronic Descending Aortic Dissection in Pregnant Patient with Marfan Syndrome.

    Science.gov (United States)

    Lee, Seok-Soo; Jung, Tae-Eun; Lee, Dong Hyup

    2012-12-01

    Aortic dilatation and dissection are severe complications during pregnancy that can be fatal to both the mother and the fetus. The risks of these complications are especially high in pregnant patients with Marfan syndrome; however, incidents of descending aortic dissection are very rare. This case report involves a successful Bentall procedure for and recovery from a rare aortic dissection in a pregnant Marfan patient who developed acute type II aortic dissection with severe aortic regurgitation and chronic descending aortic dissection immediately after Cesarean section. Regular follow-up will be needed to monitor the descending aortic dissection.

  19. [Phenotypic and genetic analysis of a patient presented with Tietz/Waardenburg type II a syndrome].

    Science.gov (United States)

    Wang, Huanhuan; Tang, Lifang; Zhang, Jingmin; Hu, Qin; Chen, Yingwei; Xiao, Bing

    2015-08-01

    To determine the genetic cause for a patient featuring decreased pigmentation of the skin and iris, hearing loss and multiple congenital anomalies. Routine chromosomal banding was performed to analyze the karyotype of the patient and his parents. Single nucleotide polymorphism array (SNP array) was employed to identify cryptic chromosome aberrations, and quantitative real-time PCR was used to confirm the results. Karyotype analysis has revealed no obvious anomaly for the patient and his parents. SNP array analysis of the patient has demonstrated a 3.9 Mb deletion encompassing 3p13p14.1, which caused loss of entire MITF gene. The deletion was confirmed by quantitative real-time PCR. Clinical features of the patient have included severe bilateral hearing loss, decreased pigmentation of the skin and iris and multiple congenital anomalies. The patient, carrying a 3p13p14.1 deletion, has features of Tietz syndrome/Waardenburg syndrome type IIa. This case may provide additional data for the study of genotype-phenotype correlation of this disease.

  20. Richner-Hanhart Syndrome (Tyrosinemia Type II A Case Report of Delay Diagnosis with Hyperkeratotic Lesions of Palmes and Soles

    Directory of Open Access Journals (Sweden)

    Z. Alian

    2014-10-01

    Full Text Available Introduction: Richner-Hanhart syndrome (tyrosinemia type II is a rare autosomal recessive disease associated with high serum tyrosine levels caused by the deficiency of tyrosine ami-notransferase enzyme. Case Report: We report a 7-year-old female patient with complaints of hyperkeratosis lesions of palms and soles which started 3 years ago. Chromatography of serum amino acids showed a tyrosine level of 120micromole/L (normal range: 22-87. She had normal ophthalmologic examination and mild mental retardation was detected. One month after the tyrosine- and phenylalanine-restricted diet, her tyrosine level dropped to 42 micromol/L level, her keratotic lesions subsided, and a symptomatic relief in learning was achieved. Conclusion: Tyrosinemia type II should be suspected in patients demonstrating dermatologic signs, especially palmoplantar keratosis, associated with bilateral pseudodendritic corneal lesions unresponsive to antiviral therapy and mild to moderate mental retardation, although our patient without ophthalmic lesions is a very rare case of this syndrome. (Sci J Hamadan Univ Med Sci 2014; 21 (3: 251-254

  1. Complex Regional Pain Syndrome (CRPS Type II After Carpal Tunnel Release Surgery: Case Report

    Directory of Open Access Journals (Sweden)

    Hakan Tunç

    2010-08-01

    Full Text Available Summary Complex regional pain syndrome is a chronic syndrome characterised with dystrophic changes and neurovascular disordes of bone and skin of extremities. The most common etiological factors are trauma, ischemic heart disease, cerebral lesions, servical region disorders, infections, and surgical treatments. Carpal tunnel syndrome is the most common compressive neuropaty of the upper extremity. There are various surgical and conservative alternatives in the treatment of carpal tunnel syndrome. Complex regional pain syndrome has been reported as a complication of surgical carpal tunnel release in 2-5% of patients. In this case report clinical characteristics and rehabilitation outcomes of a patient with complex regional pain syndrome after carpal tunnel release surgery is presented. (Osteoporoz Dünyasından 2010;16:41-3

  2. A Case of Autoimmune Polyglandular Syndrome (APS) Type II with Hypothyroidism, Hypoadrenalism, and Celiac Disease - A Rare Combination.

    Science.gov (United States)

    Lakhotia, Manoj; Pahadia, Hans Raj; Kumar, Harish; Singh, Jagdish; Tak, Sandeep

    2015-04-01

    Autoimmune Polyglandular syndrome (APS) are rare condition characterised by presence of immune dysfunction of two or more endocrine glands and other non-endocrine organs. APS is divided into 2 major subtypes based on age of presentation, pattern of disease combinations and mode of inheritance. APS 1(juvenile) usually manifest in early adolescence or in infancy. It is characterised by multiple endocrinal deficiency with mucocutaneous candidiasis and ectodermal dystrophy. Of the endocrine diseases, hypoparathyroidism form an important component followed by Addison's disease, type 1A diabetes, hypogonadism and thyroid disease. On the other hand APS II usually manifest in 3rd or 4th decade of life with female preponderance. Endocrine diseases commonly include autoimmune thyroid disease (graves or autoimmune thyroiditis), type 1A diabetes, and Addison's disease. Hypoparathyroidism is of rare occurrence and there is no mucocutaneous candidiasis. We report here a case of APS type II in a 29-year-old male who initially presented with hypothyroidism, which was soon followed by Addison's disease. The involvement of thyroid gland preceding the involvement of adrenal is of rare occurrence. The patient also had celiac disease which makes the combination further uncommon.

  3. Prenatal diagnosis and genetic counseling for Waardenburg syndrome type I and II in Chinese families

    Science.gov (United States)

    Wang, Li; Qin, Litao; Li, Tao; Liu, Hongjian; Ma, Lingcao; Li, Wan; Wu, Dong; Wang, Hongdan; Guo, Qiannan; Guo, Liangjie; Liao, Shixiu

    2018-01-01

    Waardenburg syndrome (WS) is an auditory-pigmentary disorder with varying combinations of sensorineural hearing loss and abnormal pigmentation. The present study aimed to investigate the underlying molecular pathology and provide a method of prenatal diagnosis of WS in Chinese families. A total of 11 patients with WS from five unrelated Chinese families were enrolled. A thorough clinical examination was performed on all participants. Furthermore, patients with WS underwent screening for mutations in the following genes: Paired box 3 (PAX3), melanogenesis associated transcription factor (MITF), SRY-box 10, snail family transcriptional repressor 2 and endothelin receptor type B using polymerase chain reaction sequencing. Array-based comparative genomic hybridization was used for specific patients whose sequence results were normal. Following identification of the genotype of the probands and their parents, prenatal genetic diagnosis was performed for family 01 and 05. According to the diagnostic criteria for WS, five cases were diagnosed as WS1, while the other six cases were WS2. Genetic analysis revealed three mutations, including a nonsense mutation PAX3 c.583C>T in family 01, a splice-site mutation MITF c.909G>A in family 03 and an in-frame deletion MITF c.649_651delGAA in family 05. To the best of the authors' knowledge the mutations (c.583C>T in PAX3 and c.909G>A in MITF) were reported for the first time in Chinese people. Mutations in the gene of interest were not identified in family 02 and 04. The prenatal genetic testing of the two fetuses was carried out and demonstrated that the two babies were normal. The results of the present study expanded the range of known genetic mutations in China. Identification of genetic mutations in these families provided an efficient way to understand the causes of WS and improved genetic counseling. PMID:29115496

  4. Genetic counseling for a three-generation Chinese family with Waardenburg syndrome type II associated with a rare SOX10 mutation.

    Science.gov (United States)

    Chen, Kaitian; Zong, Ling; Zhan, Yuan; Wu, Xuan; Liu, Min; Jiang, Hongyan

    2015-05-01

    Waardenburg syndrome is clinically and genetically heterogeneous. The SOX10 mutation related with Waardenburg syndrome type II is rare in Chinese. This study aimed to uncover the genetic causes of Waardenburg syndrome type II in a three-generation family to improve genetic counseling. Complete clinical and molecular evaluations were conducted in a three-generation Han Chinese family with Waardenburg syndrome type II. Targeted genetic counseling was provided to this family. We identified a rare heterozygous dominant mutation c.621C>A (p.Y207X) in SOX10 gene in this family. The premature termination codon occurs in exon 4, 27 residues downstream of the carboxyl end of the high mobility group box. Bioinformatics prediction suggested this variant to be disease-causing, probably due to nonsense-mediated mRNA decay. Useful genetic counseling was given to the family for prenatal guidance. Identification of a rare dominant heterozygous SOX10 mutation c.621C>A in this family provided an efficient way to understand the causes of Waardenburg syndrome type II and improved genetic counseling. Copyright © 2015 Elsevier Ireland Ltd. All rights reserved.

  5. Heterozygous deletion at the SOX10 gene locus in two patients from a Chinese family with Waardenburg syndrome type II.

    Science.gov (United States)

    Wenzhi, He; Ruijin, Wen; Jieliang, Li; Xiaoyan, Ma; Haibo, Liu; Xiaoman, Wang; Jiajia, Xian; Shaoying, Li; Shuanglin, Li; Qing, Li

    2015-10-01

    Waardenburg syndrome (WS) is a rare disease characterized by sensorineural deafness and pigment disturbance. To date, almost 100 mutations have been reported, but few reports on cases with SOX10 gene deletion. The inheritance pattern of SOX10 gene deletion is still unclear. Our objective was to identify the genetic causes of Waardenburg syndrome type II in a two-generation Chinese family. Clinical evaluations were conducted in both of the patients. Microarray analysis and multiplex ligation-dependent probe amplification (MLPA) were performed to identify disease-related copy number variants (CNVs). DNA sequencing of the SOX10, MITF and SNAI2 genes was performed to identify the pathogenic mutation responsible for WS2. A 280kb heterozygous deletion at the 22q13.1 chromosome region (including SOX10) was detected in both of the patients. No mutation was found in the patients, unaffected family members and 30 unrelated healthy controls. This report is the first to describe SOX10 heterozygous deletions in Chinese WS2 patients. Our result conform the thesis that heterozygous deletions at SOX10 is an important pathogenicity for WS, and present as autosomal dominant inheritance. Nevertheless, heterozygous deletion of the SOX10 gene would be worth investigating to understand their functions and contributions to neurologic phenotypes. Copyright © 2015 Elsevier Ireland Ltd. All rights reserved.

  6. A locus for Waardenburg syndrome type II maps to chromosome 1p13.3-2.1

    Energy Technology Data Exchange (ETDEWEB)

    Lalwani, A.K.; San Agustin, T.B.; Wilcox, E.R. [LMG, Bethesda, MD (United States)] [and others

    1994-09-01

    Waardenburg syndrome (WS) is a dominantly inherited and clinically variable syndrome of deafness, pigmentary changes and distinctive facial features. WS type I (WS1) is characterized by a high frequency of dystopia canthorum whereas WS type II (WS2) individuals have normal inter canthal distances. Previous studies have shown that WS1 is caused by mutations in the PAX3 gene on chromosome 2q whereas WS2 is unlinked to PAX3. However, analyses of WS2 families have been complicated by the possibility of misdiagnosis of secondary cases with mild features of WS2. We initiated a genome search in 8 WS2 families. Suggestive evidence for linkage to D1S248 and AMY2B was found in one family (both markers: Z-max=2.4 at {Theta}=0), to D1S485 and D1S495 in a second family (both markers: Z-max=2.2 at {Theta}=0), and to D1S248 in a third family (Z-max=1.1 at {Theta}=.11). WS2 was not linked to any of these markers in the total group of families. Location scores for each family were calculated by a six-locus analysis using the marker map AMY2B/D1S486 - .03 - D1S495 - .02 - D1S248 - .05 - D1S457 - .04 - D1S250. Assessment of these scores for linkage and heterogeneity using the admixture test revealed significant evidence for linkage (P<.0001) under the assumption of heterogeneity ({alpha}=.40). The most likely location for WS2 is at D1S495, although either of the intervals flanking this marker may contain the mutant gene. All other locations were ruled out with odds of greater than l00 to 1. Our findings suggest that there are at least two loci for WS type II. Complementary crossovers in the linked families make feasible attempts to narrow the location of the WS2 gene by positional cloning. Analyses of additional families will be needed to estimate more precisely the proportion of linked families and identify the gene.

  7. Meglumine exerts protective effects against features of metabolic syndrome and type II diabetes.

    Directory of Open Access Journals (Sweden)

    Arturo Bravo-Nuevo

    Full Text Available Metabolic syndrome, diabetes and diabetes complications pose a growing medical challenge worldwide, accentuating the need of safe and effective strategies for their clinical management. Here we present preclinical evidence that the sorbitol derivative meglumine (N-methyl-D-glucamine can safely protect against several features of metabolic syndrome and diabetes, as well as elicit enhancement in muscle stamina. Meglumine is a compound routinely used as an approved excipient to improve drug absorption that has not been ascribed any direct biological effects in vivo. Normal mice (SV129 administered 18 mM meglumine orally for six weeks did not display any gastrointestinal or other observable adverse effects, but had a marked effect on enhancing muscle stamina and at longer times in limiting weight gain. In the established KK.Cg-Ay/J model of non-insulin dependent diabetes, oral administration of meglumine significantly improved glycemic control and significantly lowered levels of plasma and liver triglycerides. Compared to untreated control animals, meglumine reduced apparent diabetic nephropathy. Sorbitol can improve blood glucose uptake by liver and muscle in a manner associated with upregulation of the AMPK-related enzyme SNARK, but with undesirable gastrointestinal side effects not seen with meglumine. In murine myoblasts, we found that meglumine increased steady-state SNARK levels in a dose-dependent manner more potently than sorbitol. Taken together, these findings provide support for the clinical evaluation of meglumine as a low-cost, safe supplement offering the potential to improve muscle function, limit metabolic syndrome and reduce diabetic complications.

  8. Physiotherapy for pain and disability in adults with complex regional pain syndrome (CRPS) types I and II.

    Science.gov (United States)

    Smart, Keith M; Wand, Benedict M; O'Connell, Neil E

    2016-02-24

    Complex regional pain syndrome (CRPS) is a painful and disabling condition that usually manifests in response to trauma or surgery. When it occurs, it is associated with significant pain and disability. It is thought to arise and persist as a consequence of a maladaptive pro-inflammatory response and disturbances in sympathetically-mediated vasomotor control, together with maladaptive peripheral and central neuronal plasticity. CRPS can be classified into two types: type I (CRPS I) in which a specific nerve lesion has not been identified, and type II (CRPS II) where there is an identifiable nerve lesion. Guidelines recommend the inclusion of a variety of physiotherapy interventions as part of the multimodal treatment of people with CRPS, although their effectiveness is not known. To determine the effectiveness of physiotherapy interventions for treating the pain and disability associated with CRPS types I and II. We searched the following databases from inception up to 12 February 2015: CENTRAL (the Cochrane Library), MEDLINE, EMBASE, CINAHL, PsycINFO, LILACS, PEDro, Web of Science, DARE and Health Technology Assessments, without language restrictions, for randomised controlled trials (RCTs) of physiotherapy interventions for treating pain and disability in people CRPS. We also searched additional online sources for unpublished trials and trials in progress. We included RCTs of physiotherapy interventions (including manual therapy, therapeutic exercise, electrotherapy, physiotherapist-administered education and cortically directed sensory-motor rehabilitation strategies) employed in either a stand-alone fashion or in combination, compared with placebo, no treatment, another intervention or usual care, or of varying physiotherapy interventions compared with each other in adults with CRPS I and II. Our primary outcomes of interest were patient-centred outcomes of pain intensity and functional disability. Two review authors independently evaluated those studies

  9. Classification of patients with myelodysplastic syndromes according to the FAB co-operative group's proposals. Proposals for a redefinition of blast cell type II.

    Science.gov (United States)

    Nielsen, B; Thiede, T; Sundström, C; Hagberg, H

    1984-05-01

    53 patients with the myelodysplastic syndromes (MDS) were classified according to the proposals of the FAB cooperative group 1982. 29 patients had refractory anaemia (RA), 10 refractory anaemia with excess of blasts ( RAEB ), 5 RAEB in transformation, 7 RA with ringed sideroblasts and 2 chronic myelomonocytic leukaemia ( CMML ). Counting blast cells type I and II involved no difficulties. 4 of 15 patients who developed acute myeloid leukaemia (AML) according to the FAB classification of 1976 did not fulfill the new 1982 criteria for AML. A redefinition of the blast cell type II to include a more granulated blast cells, without the characteristics of promyelocytes, would solve this problem. We conclude that a redefinition of the blast cell type II might turn out to be useful.

  10. Distinctive Skeletal Abnormalities With No Microdeletions or Microduplications on Array-CGH in a Boy With Mohr Syndrome (Oro-Facial-Digital Type II)

    OpenAIRE

    Kaissi, Ali Al; Pospischill, Renata; Grill, Franz; Ganger, Rudolf

    2015-01-01

    We describe a constellation of distinctive skeletal abnormalities in an 8-year-old boy who presented with the full clinical criteria of oro-facial-digital (OFD) type II (Mohr syndrome): bony changes of obtuse mandibular angle, bimanual hexadactyly and unilateral synostosis of the metacarpo-phalanges of 3-4, bilateral coxa valga associated with moderate hip subluxation, over-tubulation of the long bones, vertical talus of the left foot and talipes equinovarus of the right foot respectively. In...

  11. Mucolipidosis types II and III and non-syndromic stuttering are associated with different variants in the same genes.

    Science.gov (United States)

    Raza, M Hashim; Domingues, Carlos E F; Webster, Ronald; Sainz, Eduardo; Paris, Emily; Rahn, Rachel; Gutierrez, Joanne; Chow, Ho Ming; Mundorff, Jennifer; Kang, Chang-Soo; Riaz, Naveeda; Basra, Muhammad A R; Khan, Shaheen; Riazuddin, Sheikh; Moretti-Ferreira, Danilo; Braun, Allen; Drayna, Dennis

    2016-04-01

    Homozygous mutations in GNPTAB and GNPTG are classically associated with mucolipidosis II (ML II) alpha/beta and mucolipidosis III (ML III) alpha/beta/gamma, which are rare lysosomal storage disorders characterized by multiple pathologies. Recently, variants in GNPTAB, GNPTG, and the functionally related NAGPA gene have been associated with non-syndromic persistent stuttering. In a worldwide sample of 1013 unrelated individuals with non-syndromic persistent stuttering we found 164 individuals who carried a rare non-synonymous coding variant in one of these three genes. We compared the frequency of these variants with those in population-matched controls and genomic databases, and their location with those reported in mucolipidosis. Stuttering subjects displayed an excess of non-synonymous coding variants compared to controls and individuals in the 1000 Genomes and Exome Sequencing Project databases. We identified a total of 81 different variants in our stuttering cases. Virtually all of these were missense substitutions, only one of which has been previously reported in mucolipidosis, a disease frequently associated with complete loss-of-function mutations. We hypothesize that rare non-synonymous coding variants in GNPTAB, GNPTG, and NAGPA may account for as much as 16% of persistent stuttering cases, and that variants in GNPTAB and GNPTG are at different sites and may in general, cause less severe effects on protein function than those in ML II alpha/beta and ML III alpha/beta/gamma.

  12. Oral-facial-digital syndrome with mesoaxial polysyndactyly, common AV canal, hirschsprung disease and sacral dysgenesis: Probably a transitional type between II, VI, variant of type VI or a new type

    Directory of Open Access Journals (Sweden)

    Rabah M. Shawky

    2014-07-01

    Full Text Available We report a 4 month old male infant, the first in order of birth of healthy first cousin consanguineous parents who has many typical features of oral-facial-digital syndrome type VI (OFDS VI including hypertelorism, bilateral convergent squint, depressed nasal bridge, and wide upturned nares, low set posteriorly rotated ears, long philtrum, gum hyperplasia with notches of the alveolar borders, high arched palate, and hyperplastic oral frenula. He has mesoaxial and postaxial, polysyndactyly which is the specific feature of OFDS VI, however the cerebellum is normal on MRI brain. He has also some rare congenital anomalies including common atrioventricular canal, hirschsprung disease, and sacral dysgenesis. This patient may have a transitional type between II and VI, a variant of type VI or a new type.

  13. Griscelli syndrome type-3

    Directory of Open Access Journals (Sweden)

    Bela J Shah

    2016-01-01

    Full Text Available Griscelli syndrome (GS is a rare autosomal recessive multisystem disorder of pigmentary dilution of skin, silver gray hair, variable immunodeficiency, neurological impairment, and abnormal accumulation of melanosomes in melanocytes. GS type 3 is characterized by hypomelanosis with no immunological and neurological manifestation. Prognosis is very good in type 3 GS and usually require no active intervention, as opposed to type 1 and 2 where early diagnosis and treatment plays a crucial role in patient's survival. The characteristic phenotypic appearance, especially the pigment dilution of the patient's hair, is emphasized here.

  14. Validity of F-wave minimal latency of median and ulnar nerves for diagnosis and severity assessment of carpal tunnel syndrome in type II diabetes mellitus

    International Nuclear Information System (INIS)

    Hussain, A.; Habib, S.S.; Omar, S.A.; Drees, M.A.

    2011-01-01

    Type II diabetes mellitus is a common problem and is sometimes associated with Carpal Tunnel Syndrome (CTS) due to compression of median nerve at wrist. Electrophysiological tests are frequently used for its diagnosis. In this work, F-wave minimal latency (FWML) difference between median and ulnar nerve and F-ratio is used to facilitate the diagnosis and severity of CTS in type II diabetes mellitus (T2DM). Methods: Thirty control cases were selected who were physically fit for normal electrophysiological values. Thirty-two patients with a long history of type II diabetes mellitus were studied for electro-diagnostic tests. All patients had clinical evidence of CTS. Among all diabetics about 20 cases had poor glycaemic control (HbA1c>7.5). F-wave minimal latency (FWML) were measured in median and ulnar nerves and F-ratio of median nerve were also noted. The mean values in different groups were compared using t-test and p greater or equal to 0.05 was considered significant. Results: In control group, the ulnar FWML was either equal or slightly longer that the median FWML value. In CTS group with type II diabetes mellitus the FWML value of median nerve were significantly longer than FWML of the ulnar nerve. Moreover, in uncontrolled diabetic patients the FWML values was very much longer than controlled group. Similarly the F-ratio of median nerve was significantly low. Conclusion: In addition to the specific criteria for CTS diagnosis, the parameters like FWML difference in median and ulnar nerve with reduced F-ratio of median nerve can be useful in establishing the diagnosis and severity of CTS in type II diabetes mellitus. (author)

  15. Waardenburg syndrome type II in a Chinese patient caused by a novel nonsense mutation in the SOX10 gene.

    Science.gov (United States)

    Ma, Jing; Zhang, Tie-Song; Lin, Ken; Sun, Hao; Jiang, Hong-Chao; Yang, Yan-Li; Low, Fan; Gao, Ying-Qin; Ruan, Biao

    2016-06-01

    Waardenburg syndrome is a congenital genetic disorder. It is the most common type of syndromic hearing impairment with highly genetic heterogeneity and proved to be related by 6 genes as follows: PAX3, MITF, SNAI2, EDN3, EDNRB and SOX10. This article aims to identify the genetic causes of a Chinese WS child patient. A Chinese WS child was collected for clinical data collection by questionnaire survey. DNA samples of proband and his parents were extracted from peripheral blood samples. Six candidate genes were sequenced by the Trusight One sequencing panel on the illumina NextSeq 500 platform. A novel nonsense heterozygous mutation was found in the coding region of exon 2 in the SOX10 gene of proband. The novel nonsense heterozygous mutation could cause the replacement of the 55th lysine codon by stop codon (484T > C, C142R) and further more possibly cause terminating the protein translation in advance. However, both proband's parents had no mutation of genes above mentioned. The gene mutation of SOX10 [NM_006941.3 c.163A > T] is a novel nonsense mutation. No record of this mutation has been found in dbSNP, HGMD, 1000 Genomes Project, ClinVar and ESP6500 databases. It meets the condition of PS2 of strong evidence in 2015 ACMG Standards and Guidelines. Copyright © 2016 Elsevier Ireland Ltd. All rights reserved.

  16. EVALUATION OF OBSTRUCTIVE SLEEP APNEA SYNDROME AS A RISK FACTOR FOR DIABETIC MACULAR EDEMA IN PATIENTS WITH TYPE II DIABETES.

    Science.gov (United States)

    Vié, Anne-Laure; Kodjikian, Laurent; Agard, Emilie; Voirin, Nicolas; El Chehab, Hussam; Denis, Philippe; Coste, Olivier; Dot, Corinne

    2017-11-22

    To evaluate the association between obstructive sleep apnea and diabetic macular edema (DME) in patients with Type II diabetes, using the apnea-hypopnea index and other nocturnal hypoxemia parameters. This cross-sectional, case-control study included 99 patients with Type II diabetes: the first group included patients with DME (DME+ group) and the second patients without DME (DME- group). Polysomnography was performed in all patients. The two groups were compared, and the risk factors were studied using logistic regression. The DME+ group comprised 38 patients, and the DME- group comprised 61 patients, aged a mean 68.8 years and 66.3 years (P = 0.27), respectively; mean body mass index was 29.7 and 30.9 (P = 0.16), respectively. The mean apnea-hypopnea index was significantly higher in the DME+ group (43.95 [13.5-87.3]) than in the DME- group (35.18 [3.55-90.7]) (P = 0.034). Patients with DME had more severe obstructive sleep apnea (apnea-hypopnea index >30) than the others: 71% versus 50.8% (P = 0.049). Cumulative time of SPO2 below 90% (CT90%) was independently associated with DME after adjusting for confounding factors, whereas there was no difference between the oxygen desaturation index and minimum O2 saturation. Severe obstructive sleep apnea (apnea-hypopnea index >30) and parameters of nocturnal hypoxemia (cumulative time of SPO2 below 90%) are associated with DME.

  17. Avaliação genética e oftalmológica de pacientes com síndrome de Stickler tipo II Genetic and ophthalmological assessment of patients with type II Stickler syndrome

    Directory of Open Access Journals (Sweden)

    Vanderson Glerian Dias

    2006-12-01

    Full Text Available OBJETIVOS: Diagnosticar, avaliar e descrever os achados clínico-genéticos e oftalmológicos de pacientes com síndrome de Stickler tipo II de uma mesma família. MÉTODOS: Todos os pacientes com alterações oftalmológicas foram submetidos à radiografia de mãos e punhos para idade óssea e posteriormente analisados pelo exame clínico-genético. O diagnóstico de síndrome de Stickler foi dado mediante análise clínica e correlação com o perfil metacarpofalangeano visualizado na radiografia. RESULTADOS: Síndrome de Stickler tipo II foi comprovada em 11 pacientes. Os achados oculares mais importantes foram: alta miopia (80%, subluxação do cristalino (70%, exotropia (50% e anomalias vítreo-retinianas (80% incluindo vazio vítreo (50%. O exame clínico-genético revelou que 30% dos pacientes apresentavam micrognatia, 50% hipoacusia, 40% depressão nasal e 60% palato alto. Hipermotilidade articular e dedos longos foram demonstrados em 7 casos (70% e artropatia esteve presente em 3 pacientes (30% dos casos. CONCLUSÕES: O diagnóstico da síndrome de Stickler é difícil devido à variabilidade fenotípica e a existência de outras síndromes genéticas com características semelhantes. As radiografias de mão e punho são de particular importância no diagnóstico desta síndrome.PURPOSE: To diagnose, evaluate and describe the clinical, genetic and ophthalmic characteristics of a family with type II Stickler syndrome. METHODS: X-rays for bone age, clinical and genetic evaluation were performed in all patients with ocular alterations. The Stickler syndrome diagnosis was established after correlating these examinations. RESULTS: Type II Stickler syndrome was found in 11 patients. The most important ocular findings were: high myopia (80%, lens subluxation (70%, exotropia (50% and vitreoretinal abnormalities (80% including vitreous cavity (50%. The clinical genetic examination disclosed that 30% of the patients had micrognathia, 50% hearing

  18. Short rib-polydactyly syndrome type II (Majewski: Prenatal diagnosis, perinatal imaging findings and molecular analysis of the NEK1 gene

    Directory of Open Access Journals (Sweden)

    Chih-Ping Chen

    2012-03-01

    Conclusion: Tibial aplasia, choroid plexus cysts and polycystic kidneys can be prominent prenatal ultrasound findings of type II SRPS. The present case provides evidence for a correlation of NEK1 mutation with type II SRPS.

  19. Mutation in type II procollagen (COL2Al) that substitutes aspartate for glycine [alpha]l-67 and that causes cataracts and retinal detachment: Evidence for molecular heterogeneity in the Wagner Syndrome and the stickler syndrome (Arthro-Ophthalmopathy)

    Energy Technology Data Exchange (ETDEWEB)

    Koerkkoe, J.; Ritvaniemi, P.; Kiviirikko, K.I.; Ala-Kokko, L. (Univ. of Oulu (Finland)); Haataja, L. (Univ. of Turku (Finland)); Kaeaeriaeinen, H. (Univ. of Helsinki (Finland)); Prockop, D.J. (Jefferson Thomas Jefferson Univ., Philadelphia PA (United States))

    1993-07-01

    A search for mutations in the gene for type II procollagen (COL2A1) was carried out in affected members of a family with early-onset cataracts, lattice degeneration of the retina, and retinal detachment. They had no symptoms suggestive of involvement of nonocular tissues, as is typically found in the Stickler syndrome. The COL2A1 gene was amplified with PCR, and the products were analyzed by denaturing gradient gel electrophoresis. The results suggested a mutation in one allele for exon 10. Sequencing of the fragment demonstrated a single-base mutation that converted the codon for glycine at position [alpha]1-67 to aspartate. The mutation was found in three affected members of the family available for study but not in unaffected members or 100 unrelated individuals. Comparison with previously reported mutations suggested that mutations introducing premature termination codons in the COL2A1 gene are a frequent cause of the Stickler syndrome, but mutations in the COL2A1 gene that replace glycine codons with codons for bulkier amino acid can produce a broad spectrum of disorders that range from lethal chondrodysplasias to a syndrome involving only ocular tissues, similar to the syndrome in the family originally described by Wagner in 1938. 38 refs., 4 figs., 3 tabs.

  20. Mucopolysaccharidosis type II

    Science.gov (United States)

    Genetic counseling is recommended for couples who want to have children and who have a family history of MPS II. Prenatal testing is available. Carrier testing for female relatives of affected males is available at a few centers.

  1. Functional analysis of Waardenburg syndrome-associated PAX3 and SOX10 mutations: report of a dominant-negative SOX10 mutation in Waardenburg syndrome type II.

    Science.gov (United States)

    Zhang, Hua; Chen, Hongsheng; Luo, Hunjin; An, Jing; Sun, Lin; Mei, Lingyun; He, Chufeng; Jiang, Lu; Jiang, Wen; Xia, Kun; Li, Jia-Da; Feng, Yong

    2012-03-01

    Waardenburg syndrome (WS) is an auditory-pigmentary disorder resulting from melanocyte defects, with varying combinations of sensorineural hearing loss and abnormal pigmentation of the hair, skin, and inner ear. WS is classified into four subtypes (WS1-WS4) based on additional symptoms. PAX3 and SOX10 are two transcription factors that can activate the expression of microphthalmia-associated transcription factor (MITF), a critical transcription factor for melanocyte development. Mutations of PAX3 are associated with WS1 and WS3, while mutations of SOX10 cause WS2 and WS4. Recently, we identified some novel WS-associated mutations in PAX3 and SOX10 in a cohort of Chinese WS patients. Here, we further identified an E248fsX30 SOX10 mutation in a family of WS2. We analyzed the subcellular distribution, expression and in vitro activity of two PAX3 mutations (p.H80D, p.H186fsX5) and four SOX10 mutations (p.E248fsX30, p.G37fsX58, p.G38fsX69 and p.R43X). Except H80D PAX3, which retained partial activity, the other mutants were unable to activate MITF promoter. The H80D PAX3 and E248fsX30 SOX10 were localized in the nucleus as wild type (WT) proteins, whereas the other mutant proteins were distributed in both cytoplasm and nucleus. Furthermore, E248fsX30 SOX10 protein retained the DNA-binding activity and showed dominant-negative effect on WT SOX10. However, E248fsX30 SOX10 protein seems to decay faster than the WT one, which may underlie the mild WS2 phenotype caused by this mutation.

  2. Case 22:Type II diabetes

    Science.gov (United States)

    Diabetes mellitus is characterized by elevated blood glucose levels. It is composed of two types depending on the pathogenesis. Type I diabetes is characterized by insulin deficiency and usually has its onset during childhood or teenage years. This is also called ketosis-prone diabetes. Type II diab...

  3. The inter-relational effect of metabolic syndrome and sexual dysfunction on hypogonadism in type II diabetic men.

    Science.gov (United States)

    Amidu, N; Owiredu, W K B A; Gyasi-Sarpong, C K; Alidu, H; Antuamwine, B B; Sarpong, C

    2017-05-01

    We sought to establish the interplay of metabolic syndrome (MetS) and/or sexual dysfunction (SD) on hypogonadism. Sexual functioning was assessed using Golombok Rust Inventory of Sexual Satisfaction in 274 consecutive diabetic men visiting the diabetic clinic of the Tema General Hospital between November 2010 and March 2011. MetS was assessed employing the criteria of World Health Organization, International Diabetic Federation and the National Cholesterol Education Program Adult Treatment Panel III while testosterone levels were estimated. The mean ages and duration of diabetes from this study were 59.9±11.3 and 6.8±5.9 years, respectively. The prevalence of hypogonadism was 7.3%, with the -SD/+MetS subjects showing the highest prevalence of hypogonadism, irrespective of the criteria used. Additionally, subjects with MetS and its components had a significantly lower level of testosterone compared with those without MetS and its components. Using standard nine-point scale, it was observed that subjects who avoided sexual act had significantly (P=0.0410) lower testosterone values (5.8±2.3 ng ml -1 ) than subjects who did not avoid sexual act (6.4±2.6 ng ml -1 ). MetS alone impacted more on hypogonadism than SD alone or both conditions altogether.

  4. Phenotype of Usher syndrome type II assosiated with compound missense mutations of c.721 C>T and c.1969 C>T in MYO7A in a Chinese Usher syndrome family

    Directory of Open Access Journals (Sweden)

    Wei Zhai

    2015-08-01

    Full Text Available AIM:To identify the pathogenic mutations in a Chinese pedigree affected with Usher syndrome type II (USH2.METHODS:The ophthalmic examinations and audiometric tests were performed to ascertain the phenotype of the family. To detect the genetic defect, exons of 103 known RDs -associated genes including 12 Usher syndrome (USH genes of the proband were captured and sequencing analysis was performed to exclude known genetic defects and find potential pathogenic mutations. Subsequently, candidate mutations were validated in his pedigree and 100 normal controls using polymerase chain reaction (PCR and Sanger sequencing.RESULTS:The patient in the family occurred hearing loss (HL and retinitis pigmentosa (RP without vestibular dysfunction, which were consistent with standards of classification for USH2. He carried the compound heterozygous mutations, c.721 C>T and c.1969 C>T, in the MYO7A gene and the unaffected members carried only one of the two mutations. The mutations were not present in the 100 normal controls.CONCLUSION:We suggested that the compound heterozygous mutations of the MYO7A could lead to USH2, which had revealed distinguished clinical phenotypes associated with MYO7A and expanded the spectrum of clinical phenotypes of the MYO7A mutations.

  5. Trichorhinophalangeal syndrome II, expanding the clinical spectrum

    African Journals Online (AJOL)

    Rabah M. Shawky

    2014-06-17

    Jun 17, 2014 ... an autosomal dominant fashion, most cases of TRPS II are sporadic [1]. TRPS III, is a form of brachydactyly due to short metacarpals and severe .... and broad on both sides (black asterisk), the fifth metacarpal bone has similar yet less pronounced appearance (white asterisk). Langer–Giedion syndrome. 91 ...

  6. COL5A1: Fine genetic mapping, intron/exon organization, and exclusion as candidate gene in families with tuberous sclerosis complex 1, hereditary hemorrhagic telangiectasia, and Ehlers-Danlos syndrome type II

    Energy Technology Data Exchange (ETDEWEB)

    Greenspan, D.S. [Univ. of Wisconsin, Madison, WI (United States); Papenberg, K.A.; Marchuk, D.A. [Duke Univ., Durham, NC (United States)] [and others

    1994-09-01

    Type V collagen is the only fibrillar collagen which has yet to be implicated in the pathogenesis of genetic diseases in humans or mice. To begin examining the possible role of type V collagen in genetic disease, we have previously mapped COL5A1, the gene for the {alpha}1 chain of type V collagen, to 9q23.2{r_arrow}q34.3 and described two restriction site polymorphisms which allowed us to exclude COL5A1 as candidate gene for nail-patella syndrome. We have now used these polymorphisms to exclude COL5A1 as candidate gene for tuberous sclerosis complex 1 and Ehlers-Danlos syndrome type II. In addition, we describe a CA repeat, with observed heterozygosity of about 0.5, in a COL5A1 intron, which has allowed us to exclude COL5A1 as a candidate gene in hereditary hemorrhagic telangiectasia and to place COL5A1 on the CEPH family genetic map between markers D9S66 and D9S67. We have also determined the entire intron/exon organization of COL5A1, which will facilitate characterization of mutations in genetic diseases with which COL5A1 may be linked in future studies.

  7. The risk for type B aortic dissection in Marfan syndrome.

    Science.gov (United States)

    den Hartog, Alexander W; Franken, Romy; Zwinderman, Aeilko H; Timmermans, Janneke; Scholte, Arthur J; van den Berg, Maarten P; de Waard, Vivian; Pals, Gerard; Mulder, Barbara J M; Groenink, Maarten

    2015-01-27

    Aortic dissections involving the descending aorta are a major clinical problem in patients with Marfan syndrome. The purpose of this study was to identify clinical parameters associated with type B aortic dissection and to develop a risk model to predict type B aortic dissection in patients with Marfan syndrome. Patients with the diagnosis of Marfan syndrome and magnetic resonance imaging or computed tomographic imaging of the aorta were followed for a median of 6 years for the occurrence of type B dissection or the combined end point of type B aortic dissection, distal aortic surgery, and death. A model using various clinical parameters as well as genotyping was developed to predict the risk for type B dissection in patients with Marfan syndrome. Between 1998 and 2013, 54 type B aortic dissections occurred in 600 patients with Marfan syndrome (mean age 36 ± 14 years, 52% male). Independent variables associated with type B aortic dissection were prior prophylactic aortic surgery (hazard ratio: 2.1; 95% confidence interval: 1.2 to 3.8; p = 0.010) and a proximal descending aorta diameter ≥27 mm (hazard ratio: 2.2; 95% confidence interval: 1.1 to 4.3; p = 0.020). In the risk model, the 10-year occurrence of type B aortic dissection in low-, moderate-, and high-risk patients was 6%, 19%, and 34%, respectively. Angiotensin II receptor blocker therapy was associated with fewer type B aortic dissections (hazard ratio: 0.3; 95% confidence interval: 0.1 to 0.9; p = 0.030). Patients with Marfan syndrome with prior prophylactic aortic surgery are at substantial risk for type B aortic dissection, even when the descending aorta is only slightly dilated. Angiotensin II receptor blocker therapy may be protective in the prevention of type B aortic dissections. Copyright © 2015 American College of Cardiology Foundation. Published by Elsevier Inc. All rights reserved.

  8. Specific detection of type II human chorionic gonadotropin beta subunit produced by trophoblastic and neoplastic cells.

    Science.gov (United States)

    Aldaz-Carroll, L; Richon, S; Dangles-Marie, V; Cocquebert, M; Fournier, T; Troalen, F; Stevens, D; Guery, B; Hersant, A-M; Guibourdenche, J; Nordor, A; Pecking, A; Bellet, D

    2015-04-15

    The sequence of the beta-subunit of human chorionic gonadotropin (hCGβ) varies depending on whether hCGβ is encoded by type I or type II genes. Type II genes are upregulated in trophoblast and cancer but hCGβ can be detected in the serum of nonpregnant women and healthy individuals. We aimed to determine whether monoclonal antibody (mAb) FBT11-II specifically detects hCGβ encoded by type II genes (type II hCGβ). Competitive inhibition assays with synthetic peptides, immunocytochemical and immunohistochemical studies, type II hCGβ dosing immunoassays and sequencing of CGB genes were performed. Competitive inhibition assays determined that mAb FBT11-II recognizes the type II hCGβ derived peptide. CGB mRNA sequencing of JEG-3 (trophoblastic) and T24 (bladder) cell lines confirmed that JEG-3 expresses type II genes while T24 expresses exclusively type I. FBT11-II only recognizes JEG-expressed hCGβ. Placenta immunohistochemical studies confirmed that type II hCGβ expression is restricted to the syncytiotrophoblast. Immunoassays detected type II hCGβ in serum of patients with either nontrophoblastic cancers or fetal Down syndrome. Type II gene expression can be detected using FBT11-II. This specific recognition could improve the clinical usefulness of assays aimed at either managing aggressive tumors or screening for Down syndrome. Copyright © 2015. Published by Elsevier B.V.

  9. Prevalence of Gastroesophageal Reflux Disease in Type II Diabetes Mellitus

    Directory of Open Access Journals (Sweden)

    Huihui Sun

    2014-01-01

    Full Text Available Background/Aims. Patients with type II diabetes mellitus (DM were known to have higher prevalence of gastroesophageal reflux disease (GERD in the Western countries, but data on the impact of GERD on DM patients in our country are scarce. The aim of this study was to evaluate the prevalence of GERD in type II DM patients in Shanghai, China, and to explore its possible risk factors. Methods. 775 type II DM cases were randomly collected. Reflux Disease Questionnaire (RDQ was used to check the presence of GERD. Patients’ characteristics, laboratory data, face-to-face interview, nerve conduction study, and needle electromyogram (EMG test were analyzed. Results. 16% patients were found with typical GERD symptoms. Pathophysiological factors such as peripheral neuropathy, metabolism syndrome, and obesity were found to have no significant differences between GERD and non-GERD type II DM patients in the present study. Conclusion. The prevalence of GERD in type II DM patients is higher than that in adult inhabitants in Shanghai, China. No difference in pathophysiological factors, such as peripheral neuropathy, and metabolism syndrome was found in DM-GERD patients, suggesting that further study and efforts are needed to explore deeper the potential risk factors for the high prevalence rate of GERD in DM patients.

  10. Polyglandular autoimmune syndrome type I.

    Science.gov (United States)

    Proust-Lemoine, Emmanuelle; Saugier-Veber, Pascale; Wémeau, Jean-Louis

    2012-12-01

    Polyglandular Autoimmune Syndrom type 1 (PAS-1) or Autoimmune PolyEndocrinopathy Candidiasis-Ectodermal-Dystrophy (APECED) is a rare recessive autosomal disease related to Autoimmune Regulator (AIRE) gene mutations. AIRE is mainly implicated in central and peripheric immune tolerance. Diagnosis was classically based on presence of at least two out of three "majors" criterions of Whitaker's triad (candidiasis, autoimmune hypoparathyroidism and adrenal insufficiency). Presence of one criterion was sufficient when a sibling was previously diagnosed. However, some atypic or poorly symptomatic variants do not correspond to these criterions. As a matter of fact, digestive (malabsorption, pernicious anemia, hepatitis), cutaneous (alopecia, vitiligo, enamel dysplasia) or ophtalmological (keratitis) components could prevail. In these cases, diagnosis could be made by molecular genetics. Prognosis is influenced by genetic (AIRE mutations, HLA), hormonal and environmental (infections) factors. Potentially letal components (hepatitis and severe malabsorption) could be treated by immunosuppressors. Candidiasis and other infections should be carefully screened and treated before beginning those therapies, in order to avoid severe systemic infections. Copyright © 2012 Elsevier Masson SAS. All rights reserved.

  11. Type I Versus Type II Endometrial Cancer

    DEFF Research Database (Denmark)

    Noer, Mette Calundann; Antonsen, Sofie Leisby; Ottesen, Bent

    2018-01-01

    OBJECTIVE: Two distinct types of endometrial carcinoma (EC) with different etiology, tumor characteristics, and prognosis are recognized. We investigated if the prognostic impact of comorbidity varies between these 2 types of EC. Furthermore, we studied if the recently developed ovarian cancer....... A consistent association between increasing levels of comorbidity and poorer survival was observed for both types. Cox regression analyses revealed a significant interaction between cancer stage and comorbidity indicating that the impact of comorbidity varied with stage. In contrast, the interaction between...

  12. Case report: Short rib polydactyly syndrome - type 2 (Majewski syndrome)

    International Nuclear Information System (INIS)

    Jutur, Pramod Setty; Kumar, Chandan Pramod; Goroshi, Shetteppa

    2010-01-01

    Short rib polydactyly syndrome (SRPS) type 2 (Majewski syndrome) is a rare inherited, autosomal recessive, lethal skeletal dysplasia characterized by horizontally located short ribs, pre- and postaxial polysyndactyly, and micromelia, with characteristic short ovoid tibiae. There may or may not be visceral involvement. We report a case of SRPS type 2 that was diagnosed by antenatal USG at 28 weeks of gestation; the diagnosis was subsequently confirmed by postnatal radiography, fetal autopsy, and histopathology

  13. Genetics Home Reference: Ohdo syndrome, Maat-Kievit-Brunner type

    Science.gov (United States)

    ... blepharophimosis-mental retardation syndrome, Maat-Kievit-Brunner type BMRS, MKB type Ohdo syndrome, MKB type X-linked ... D, Brunner H, Bitoun P. Blepharophimosis-mental retardation (BMR) syndromes: A proposed clinical classification of the so- ...

  14. Genetics Home Reference: type A insulin resistance syndrome

    Science.gov (United States)

    ... Conditions Type A insulin resistance syndrome Type A insulin resistance syndrome Printable PDF Open All Close All Enable ... as energy. In people with type A insulin resistance syndrome , insulin resistance impairs blood sugar regulation and ultimately leads ...

  15. COL5A1: Genetic mapping and exclusion as candidate gene in families with nail-patella syndrome, tuberous sclerosis 1, hereditary hemorrhagic telangiectasia, and Ehlers-Danlos syndrome type II

    Energy Technology Data Exchange (ETDEWEB)

    Greenspan, D.S. [Univ. of Wisconsin Medical School, Madison, WI (United States); Northrup, H.; Au, K.S. [Univ. of Texas Medical School, Houston, TX (United States)] [and others

    1995-02-10

    COL5A1, the gene for the {alpha}1 chain of type V collagen, has been considered a candidate gene for certain diseases based on chromosomal location and/or disease phenotype. We have employed 3{prime}-untranslated region RFLPs to exclude COL5A1 as a candidate gene in families with tuberous sclerosis 1, Ehlers-Danlos syndrome type H, and nail-patella syndrome. In addition, we describe a polymorphic simple sequence repeat (SSR) within a COL5A1 intron. This SSR is used to exclude COL5A1 as a candidate gene in hereditary hemorrhagic telangiectasia (Osler-Rendu-Weber disease) and to add COL5A1 to the existing map of {open_quotes}index{close_quotes} markers of chromosome 9 by evaluation of the COL5A1 locus on the CEPH 40-family reference pedigree set. This genetic mapping places COL5A1 between markers D9S66 and D9S67. 14 refs., 1 fig., 2 tabs.

  16. Mirizzi Syndrome Type IV: A challenging diagnosis

    Directory of Open Access Journals (Sweden)

    Daniel Navarini

    2016-05-01

    Full Text Available Mirizzi Syndrome type IV is an extremely rare condition, which is confused with the diagnosis of cholangiocarcinoma in many cases. This report describes a case of a forty-three-year old patient, who was forwarded to our department of general surgery with a high suspicion of a choledochal neoplasic lesion. During the hospitalization he was diagnosed with Mirizzi Syndrome type IV. We concisely describe the case and the literature review about this pathology.

  17. Development of a genome copy specific RT qPCR assay for divergent strains of type II porcine reproductive and respiratory syndrome virus

    Science.gov (United States)

    Porcine reproductive and respiratory syndrome virus (PRRSV) became a significant pathogen of swine upon its emergence in the late 1980’s and since then has exemplified a rapidly evolving, constantly reemerging pathogen. In addition to the challenges faced in development of vaccines and diagnostics, ...

  18. Autoimmune Polyglandular Syndrome Type 2: An Unusual Presentation

    Directory of Open Access Journals (Sweden)

    Hamdollah Karamifar

    2010-05-01

    Full Text Available "nAutoimmune polyglandular syndrome (APS type 2 is characterized by the presence of Addison's disease, in association with autoimmune thyroid disease and/or type 1 diabetes mellitus. APS type 2 occurs most often in middle aged females and is rare in children. Here an 11 year old boy is reported with Addison's disease who developed symptom's of diabetes mellitus, goiter, malabsorption, macrocytic anemia and keratitis. APS type 2 occurs most often in middle aged females and is quite rare in children but one should think to autoimmune poly glandular syndrome type II in patient at any age especially in patients with Addison's disease.

  19. Prevalence of Mucopolysaccharidosis Types I, II, and VI in the Pediatric and Adult Population with Carpal Tunnel Syndrome (CTS). Retrospective and Prospective Analysis of Patients Treated for CTS

    DEFF Research Database (Denmark)

    Nørmark, Mette Borch; Kjaer, Nanna; Lund, Allan Meldgaard

    2017-01-01

    a filter paper blood spot sample taken that was subsequently analyzed enzymatically for MPS I, II, and VI. RESULTS: 425 patients were included. 402 patients tested negative in the first test. 23 had inconclusive result whereof 18 was negative in a second test. The remaining five patients had two...

  20. Clinical Presentation of Mucopolysaccharidosis Type II (Hunter's ...

    African Journals Online (AJOL)

    hanumantp

    syndrome), treatment has been mainly palliative.[3] However, enzyme replacement therapy (ERT) with .... This is akin to what happens in glycogen storage disease where degeneration of excess glycogen in the liver can .... Danis P, Toussant D. Retinal pigmentary changes in mucopolysacharidoses of hunters type. Bull Soc ...

  1. Carpal tunnel syndrome - Part II (treatment,

    Directory of Open Access Journals (Sweden)

    Michel Chammas

    2014-10-01

    Full Text Available The treatments for non-deficit forms of carpal tunnel syndrome (CTS are corticoid infiltration and/or a nighttime immobilization brace. Surgical treatment, which includes sectioning the retinaculum of the flexors (retinaculotomy, is indicated in cases of resistance to conservative treatment in deficit forms or, more frequently, in acute forms. In minimally invasive techniques (endoscopy and mini-open, and even though the learning curve is longer, it seems that functional recovery occurs earlier than in the classical surgery, but with identical long-term results. The choice depends on the surgeon, patient, severity, etiology and availability of material. The results are satisfactory in close to 90% of the cases. Recovery of strength requires four to six months after regression of the pain of pillar pain type. This surgery has the reputation of being benign and has a complication rate of 0.2–0.5%.

  2. Ehlers-Danlos syndrome type IV

    Science.gov (United States)

    Germain, Dominique P

    2007-01-01

    Ehlers-Danlos syndrome type IV, the vascular type of Ehlers-Danlos syndromes (EDS), is an inherited connective tissue disorder defined by characteristic facial features (acrogeria) in most patients, translucent skin with highly visible subcutaneous vessels on the trunk and lower back, easy bruising, and severe arterial, digestive and uterine complications, which are rarely, if at all, observed in the other forms of EDS. The estimated prevalence for all EDS varies between 1/10,000 and 1/25,000, EDS type IV representing approximately 5 to 10% of cases. The vascular complications may affect all anatomical areas, with a tendency toward arteries of large and medium diameter. Dissections of the vertebral arteries and the carotids in their extra- and intra-cranial segments (carotid-cavernous fistulae) are typical. There is a high risk of recurrent colonic perforations. Pregnancy increases the likelihood of a uterine or vascular rupture. EDS type IV is inherited as an autosomal dominant trait that is caused by mutations in the COL3A1 gene coding for type III procollagen. Diagnosis is based on clinical signs, non-invasive imaging, and the identification of a mutation of the COL3A1 gene. In childhood, coagulation disorders and Silverman's syndrome are the main differential diagnoses; in adulthood, the differential diagnosis includes other Ehlers-Danlos syndromes, Marfan syndrome and Loeys-Dietz syndrome. Prenatal diagnosis can be considered in families where the mutation is known. Choriocentesis or amniocentesis, however, may entail risk for the pregnant woman. In the absence of specific treatment for EDS type IV, medical intervention should be focused on symptomatic treatment and prophylactic measures. Arterial, digestive or uterine complications require immediate hospitalisation, observation in an intensive care unit. Invasive imaging techniques are contraindicated. Conservative approach is usually recommended when caring for a vascular complication in a patient suffering

  3. Ehlers-Danlos syndrome type IV

    Directory of Open Access Journals (Sweden)

    Germain Dominique P

    2007-07-01

    Full Text Available Abstract Ehlers-Danlos syndrome type IV, the vascular type of Ehlers-Danlos syndromes (EDS, is an inherited connective tissue disorder defined by characteristic facial features (acrogeria in most patients, translucent skin with highly visible subcutaneous vessels on the trunk and lower back, easy bruising, and severe arterial, digestive and uterine complications, which are rarely, if at all, observed in the other forms of EDS. The estimated prevalence for all EDS varies between 1/10,000 and 1/25,000, EDS type IV representing approximately 5 to 10% of cases. The vascular complications may affect all anatomical areas, with a tendency toward arteries of large and medium diameter. Dissections of the vertebral arteries and the carotids in their extra- and intra-cranial segments (carotid-cavernous fistulae are typical. There is a high risk of recurrent colonic perforations. Pregnancy increases the likelihood of a uterine or vascular rupture. EDS type IV is inherited as an autosomal dominant trait that is caused by mutations in the COL3A1 gene coding for type III procollagen. Diagnosis is based on clinical signs, non-invasive imaging, and the identification of a mutation of the COL3A1 gene. In childhood, coagulation disorders and Silverman's syndrome are the main differential diagnoses; in adulthood, the differential diagnosis includes other Ehlers-Danlos syndromes, Marfan syndrome and Loeys-Dietz syndrome. Prenatal diagnosis can be considered in families where the mutation is known. Choriocentesis or amniocentesis, however, may entail risk for the pregnant woman. In the absence of specific treatment for EDS type IV, medical intervention should be focused on symptomatic treatment and prophylactic measures. Arterial, digestive or uterine complications require immediate hospitalisation, observation in an intensive care unit. Invasive imaging techniques are contraindicated. Conservative approach is usually recommended when caring for a vascular

  4. NNDSS - Table II. Rabies, animal to Rubella, congenital syndrome

    Data.gov (United States)

    U.S. Department of Health & Human Services — NNDSS - Table II. Rabies, animal to Rubella, congenital syndrome - 2017. In this Table, provisional cases of selected notifiable diseases (≥1,000 cases reported...

  5. NNDSS - Table II. Rabies, animal to Rubella, congenital syndrome

    Data.gov (United States)

    U.S. Department of Health & Human Services — NNDSS - Table II. Rabies, animal to Rubella, congenital syndrome - 2018. In this Table, provisional cases of selected notifiable diseases (≥1,000 cases reported...

  6. NNDSS - Table II. Rabies, animal to Rubella, congenital syndrome

    Data.gov (United States)

    U.S. Department of Health & Human Services — NNDSS - Table II. Rabies, animal to Rubella, congenital syndrome - 2018. In this Table, provisional cases of selected notifiable diseases (≥1,000 cases reported...

  7. NNDSS - Table II. Rabies, animal to Rubella, congenital syndrome

    Data.gov (United States)

    U.S. Department of Health & Human Services — NNDSS - Table II. Rabies, animal to Rubella, congenital syndrome - 2017. In this Table, provisional cases of selected notifiable diseases (≥1,000 cases reported...

  8. DO GIANT PLANETS SURVIVE TYPE II MIGRATION?

    International Nuclear Information System (INIS)

    Hasegawa, Yasuhiro; Ida, Shigeru

    2013-01-01

    Planetary migration is one of the most serious problems to systematically understand the observations of exoplanets. We clarify that the theoretically predicted type II, migration (like type I migration) is too fast, by developing detailed analytical arguments in which the timescale of type II migration is compared with the disk lifetime. In the disk-dominated regime, the type II migration timescale is characterized by a local viscous diffusion timescale, while the disk lifetime is characterized by a global diffusion timescale that is much longer than the local one. Even in the planet-dominated regime where the inertia of the planet mass reduces the migration speed, the timescale is still shorter than the disk lifetime except in the final disk evolution stage where the total disk mass decays below the planet mass. This suggests that most giant planets plunge into the central stars within the disk lifetime, and it contradicts the exoplanet observations that gas giants are piled up at r ∼> 1 AU. We examine additional processes that may arise in protoplanetary disks: dead zones, photoevaporation of gas, and gas flow across a gap formed by a type II migrator. Although they make the type II migration timescale closer to the disk lifetime, we show that none of them can act as an effective barrier for rapid type II migration with the current knowledge of these processes. We point out that gas flow across a gap and the fraction of the flow accreted onto the planets are uncertain and they may have the potential to solve the problem. Much more detailed investigation for each process may be needed to explain the observed distribution of gas giants in extrasolar planetary systems

  9. Identification of a Novel De Novo Heterozygous Deletion in the SOX10 Gene in Waardenburg Syndrome Type II Using Next-Generation Sequencing.

    Science.gov (United States)

    Li, Haonan; Jin, Peng; Hao, Qian; Zhu, Wei; Chen, Xia; Wang, Ping

    2017-11-01

    Waardenburg syndrome (WS) is a rare autosomal dominant disorder associated with pigmentation abnormalities and sensorineural hearing loss. In this study, we investigated the genetic cause of WSII in a patient and evaluated the reliability of the targeted next-generation exome sequencing method for the genetic diagnosis of WS. Clinical evaluations were conducted on the patient and targeted next-generation sequencing (NGS) was used to identify the candidate genes responsible for WSII. Multiplex ligation-dependent probe amplification (MLPA) and real-time quantitative polymerase chain reaction (qPCR) were performed to confirm the targeted NGS results. Targeted NGS detected the entire deletion of the coding sequence (CDS) of the SOX10 gene in the WSII patient. MLPA results indicated that all exons of the SOX10 heterozygous deletion were detected; no aberrant copy number in the PAX3 and microphthalmia-associated transcription factor (MITF) genes was found. Real-time qPCR results identified the mutation as a de novo heterozygous deletion. This is the first report of using a targeted NGS method for WS candidate gene sequencing; its accuracy was verified by using the MLPA and qPCR methods. Our research provides a valuable method for the genetic diagnosis of WS.

  10. An updated Type II supernova Hubble diagram

    Science.gov (United States)

    Gall, E. E. E.; Kotak, R.; Leibundgut, B.; Taubenberger, S.; Hillebrandt, W.; Kromer, M.; Burgett, W. S.; Chambers, K.; Flewelling, H.; Huber, M. E.; Kaiser, N.; Kudritzki, R. P.; Magnier, E. A.; Metcalfe, N.; Smith, K.; Tonry, J. L.; Wainscoat, R. J.; Waters, C.

    2018-03-01

    We present photometry and spectroscopy of nine Type II-P/L supernovae (SNe) with redshifts in the 0.045 ≲ z ≲ 0.335 range, with a view to re-examining their utility as distance indicators. Specifically, we apply the expanding photosphere method (EPM) and the standardized candle method (SCM) to each target, and find that both methods yield distances that are in reasonable agreement with each other. The current record-holder for the highest-redshift spectroscopically confirmed supernova (SN) II-P is PS1-13bni (z = 0.335-0.012+0.009), and illustrates the promise of Type II SNe as cosmological tools. We updated existing EPM and SCM Hubble diagrams by adding our sample to those previously published. Within the context of Type II SN distance measuring techniques, we investigated two related questions. First, we explored the possibility of utilising spectral lines other than the traditionally used Fe IIλ5169 to infer the photospheric velocity of SN ejecta. Using local well-observed objects, we derive an epoch-dependent relation between the strong Balmer line and Fe IIλ5169 velocities that is applicable 30 to 40 days post-explosion. Motivated in part by the continuum of key observables such as rise time and decline rates exhibited from II-P to II-L SNe, we assessed the possibility of using Hubble-flow Type II-L SNe as distance indicators. These yield similar distances as the Type II-P SNe. Although these initial results are encouraging, a significantly larger sample of SNe II-L would be required to draw definitive conclusions. Tables A.1, A.3, A.5, A.7, A.9, A.11, A.13, A.15 and A.17 are also available at the CDS via anonymous ftp to http://cdsarc.u-strasbg.fr (http://130.79.128.5) or via http://cdsarc.u-strasbg.fr/viz-bin/qcat?J/A+A/611/A25

  11. Measuring type II stresses using 3DXRD

    DEFF Research Database (Denmark)

    Oddershede, Jette; Schmidt, Søren; Poulsen, Henning Friis

    2010-01-01

    An algorithm is presented for characterization of the grain resolved (type II) stress states in a polycrystalline sample based on monochromatic X-ray diffraction data. The algorithm is a robust 12-parameter-per-grain fit of the centre-of-mass grain positions, orientations and stress tensors...

  12. Inflammation and the metabolic syndrome: role of angiotensin II and oxidative stress.

    Science.gov (United States)

    Ferder, León; Inserra, Felipe; Martínez-Maldonado, Manuel

    2006-06-01

    Excess body weight, high blood pressure, and insulin resistance together have been denominated the metabolic syndrome. In this review, we analyze the potential role of angiotensin II (Ang II) and reactive oxygen species in mediating inflammation in the metabolic syndrome. Ang II induces pro-inflammatory genes and other pro-inflammatory substances and increases oxidative stress that could damage endothelium, myocardium, and renal tissue. Activation of nuclear factor-kappaB and NAD(P)H oxidase are fundamental steps in these pro-inflammatory mechanisms in which intramitochondrial oxidative stress could play a critical role. This sequence of events might explain why reduction in Ang II synthesis by angiotensin-converting enzyme inhibitors (ACEIs) and Ang II type 1 (AT1) receptor blockers (ARBs) have a protective effect against cardiovascular disease.

  13. The bipolar II disorder personality traits, a true syndrome?

    Science.gov (United States)

    Gudmundsson, Einar

    2015-06-01

    The author was struck by the similarities and commonality of complaints, aside from mood swings, made by Bipolar II patients and started registrating these complaints. This registrational work eventually led to the development of The Bipolar II Syndome Checklist. The aim of this work was to understand how widely the Bipolar II disorder affects the personality, and what disturbing personality traits are the most common? Deliberately, no attempt was made to diagnose psychiatric comorbidities, in the hope that one would get a clearer view of what symptoms, if any, could be considered a natural part of the Bipolar II Disorder. As far as the author knows this is a novel approach. 105 Bipolar II patients completed the Bipolar II Syndrome Checklist. The answers to the 44 questions on the list are presented in tables. Symptoms like anxiety, low self esteem, paranoia, extreme hurtfulness, migraine, Post Partum Depression, obsessive traits, alcoholism in the family are amongst the findings which will be presented in greater detail. No control group. Bipolar I patients excluded. The Bipolar II Syndrome Checklist has not been systematically validated. The results show that Bipolar II Disorder causes multiple symptoms so commonly that it may be justified to describe it as a syndrome, The Bipolar II Syndrome. Also these disturbances commonly lie in families of Bipolar II patients and are in all likelihood, greatly underdiagnosed. The clinical relevance of this study lies in increasing our knowledge and understanding of the nature of the Bipolar II Disorder, which in all probability will increase the diagnostic and treatment accuracy, since clinicians are more likely to scan for other symptoms needing treatment. Copyright © 2015 Elsevier B.V. All rights reserved.

  14. Scalar dark matter with type II seesaw

    Directory of Open Access Journals (Sweden)

    Arnab Dasgupta

    2014-12-01

    Full Text Available We study the possibility of generating tiny neutrino mass through a combination of type I and type II seesaw mechanism within the framework of an abelian extension of standard model. The model also provides a naturally stable dark matter candidate in terms of the lightest neutral component of a scalar doublet. We compute the relic abundance of such a dark matter candidate and also point out how the strength of type II seesaw term can affect the relic abundance of dark matter. Such a model which connects neutrino mass and dark matter abundance has the potential of being verified or ruled out in the ongoing neutrino, dark matter, as well as accelerator experiments.

  15. Polyglandular Autoimmune Syndrome Type III with Primary Hypoparathyroidism

    Directory of Open Access Journals (Sweden)

    Sang Jin Kim

    2013-09-01

    Full Text Available Polyglandular autoimmune syndrome is defined as multiple endocrine gland insufficiencies accompanied by autoimmune diseases of the endocrine and nonendocrine system. After Schmidt introduced a case of nontuberculosis adrenal gland dysfunction with thyroiditis in 1926, Neufeld defined polyglandular autoimmune syndrome by I, II, and III subtypes in 1980 by their presentation of occurrence age, heredity methods, relationship with human leukocyte antigen, and accompanying diseases. We report a case of a 32-year-old female with polyglandular autoimmune syndrome III accompanied by type 1 diabetes mellitus that was treated with insulin (36 units per day for 11 years. She had insulin deficiency and Hashimoto thyroiditis as an autoimmune disorder. In addition, she had several features similar to Albright's hereditary osteodystrophy including short stature, truncal obesity, round face, short neck, low intelligence (full IQ 84, and decreased memory. Although Albright's hereditary osteodystrophy is morphological evidence of pseudohypoparathyroidism or pseudopseudohypoparathyroidism, she had primary hypoparathyroidism on laboratory results. Here, we report a case of polyglandular autoimmune syndrome III with type 1 diabetes mellitus, autoimmune thyroiditis, and primary hypoparathyroidism, accompanied by clinical features similar to Albright's hereditary osteodystrophy.

  16. Bartter's Syndrome with Type 2 Diabetes Mellitus

    Directory of Open Access Journals (Sweden)

    Ting-Ting See

    2009-02-01

    Full Text Available We report a rare case of Bartter's syndrome in a 35-year-old woman with type 2 diabetes mellitus. The patient presented with leg weakness, fatigue, polyuria and polydipsia. Hypokalemia, metabolic alkalosis, and high renin and aldosterone concentrations were present, but the patient was normotensive. Gitelman's syndrome was excluded because of the presence of hypercalciuria, secondary hyperparathyroidism and bilateral nephrocalcinosis. The patient's condition improved upon administration of a prostaglandin synthetase inhibitor (acemetacin, oral potassium chloride and potassium-sparing diuretics. Five months later, the patient discontinued acemetacin because of epigastric discomfort; at the same time, severe hypokalemia and hyperglycemia developed. Glucagon stimulation and water deprivation tests were performed. Type 2 diabetes mellitus with nephrogenic diabetes insipidus was diagnosed. To avoid further gastrointestinal complications, the patient was treated with celecoxib, a selective cyclooxygenase 2 inhibitor. This case serves as a reminder that Bartter's syndrome is associated with various metabolic derangements including nephrogenic diabetes insipidus, nephrocalcinosis and diabetes mellitus. When treating Bartter's syndrome, it is also prudent to remember that the long-term use of nonsteroidal anti-inflammatory drugs and potassium-sparing diuretics may result in serious adverse reactions.

  17. Peculiar Type II supernovae from blue supergiants

    Science.gov (United States)

    Kleiser, Io K. W.; Poznanski, Dovi; Kasen, Daniel; Young, Timothy R.; Chornock, Ryan; Filippenko, Alexei V.; Challis, Peter; Ganeshalingam, Mohan; Kirshner, Robert P.; Li, Weidong; Matheson, Thomas; Nugent, Peter E.; Silverman, Jeffrey M.

    2011-07-01

    The vast majority of Type II supernovae (SNeII) are produced by red supergiants, but SN 1987A revealed that blue supergiants (BSGs) can produce members of this class as well, albeit with some peculiar properties. This best-studied event revolutionized our understanding of SNe and linking it to the bulk of Type II events is essential. We present here the optical photometry and spectroscopy gathered for SN 2000cb, which is clearly not a standard SNII and yet is not a SN 1987A analogue. The light curve of SN 2000cb is reminiscent of that of SN 1987A in shape, with a slow rise to a late optical peak, but on substantially different time-scales. Spectroscopically, SN 2000cb resembles a normal SNII, but with ejecta velocities that far exceed those measured for SN 1987A or normal SNeII, above 18 000 km s-1 for Hα at early times. The red colours, high velocities, late photometric peak and our modelling of this object all point towards a scenario involving the high-energy explosion of a small-radius star, most likely a BSG, producing 0.1 M⊙ of 56Ni. Adding a similar object to the sample, SN 2005ci, we derive a rate of ˜2 per cent of the core-collapse rate for this loosely defined class of BSG explosions.

  18. NNMSM type-II and -III

    Energy Technology Data Exchange (ETDEWEB)

    Haba, Naoyuki [Graduate School of Science and Engineering, Shimane University, Matsue, Shimane (Japan); Hokkaido University, Department of Physics, Faculty of Science, Sapporo, Hokkaido (Japan); Kaneta, Kunio [Hokkaido University, Department of Physics, Faculty of Science, Sapporo, Hokkaido (Japan); University of Tokyo, Kavli Institute for the Physics and Mathematics of the Universe (WPI), Kashiwa, Chiba (Japan); Osaka University, Department of Physics, Graduate School of Science, Toyonaka, Osaka (Japan); Takahashi, Ryo [Hokkaido University, Department of Physics, Faculty of Science, Sapporo, Hokkaido (Japan)

    2014-01-15

    We suggest two types of extension of the standard model, which are the so-called next to new minimal standard model type-II and -III. They can achieve gauge coupling unification as well as suitable dark matter abundance, small neutrino masses, baryon asymmetry of the universe, inflation, and dark energy. The gauge coupling unification can be realized by introducing two or three extra new fields, and they could explain charge quantization. We also show that there are regions in which the vacuum stability, coupling perturbativity, and correct dark matter abundance can be realized with current experimental data at the same time. (orig.)

  19. [Type 2 autoimmune polyendocrine syndromes (APS-2)].

    Science.gov (United States)

    Vialettes, Bernard; Dubois-Leonardon, Noémie

    2013-01-01

    Type 2 autoimmune polyendocrine syndromes (APS-2) are the most frequent disorders associating several organ-specific autoimmune diseases. Their high prevalence is due to the fact that the main manifestations of APS-2, such as thyroidal autoimmunity, type 1 diabetes, autoimmune gastric atrophy and vitiligo, are common diseases. APS-2 represents a clinical model that can serve to help unravel the mechanisms underlying autoimmunity. Diagnosis of APS-2 is a challenge for the clinician, especially in poorly symptomatic forms, and may require systematic screening based on measurement of autoantibodies and functional markers.

  20. Dietary patterns and metabolic syndrome among type 2 diabetes ...

    African Journals Online (AJOL)

    Background: The prevalence of metabolic syndrome is raising worldwide; however, the role of diet in the origin of metabolic syndrome is not understood well. This study identifies major dietary patterns among type 2 diabetes mellitus patients with and without metabolic syndrome; and its association with metabolic syndrome ...

  1. Síndrome Poliglandular Autoinmune Tipo II: Posible Asociación con HLA DRB1*-DQB1* Possible association of Type II Autoimmune Polyendrocrine Syndrome with HLA DRB1*-DQB1*

    OpenAIRE

    M.S. Mallea Gil; M.C. Ballarino; M.M. Aparicio; K. Bertini; M.C. Ridruejo; S. Gimenez; P. Galarza; A. Perusco; S. Roveto; D. Rimoldi

    2010-01-01

    Los síndromes poliendocrinos autoinmunes (APS) asocian enfermedades endocrinas autoinmunes con otros desórdenes autoinmunes no endocrinos. El APS tipo II se caracteriza por compromiso primario suprarrenal, tiroideo y/o DM tipo I. Presentamos un paciente masculino de 46 años que fue internado por astenia, adinamia, hiporexia, severa disminución de peso, mareos y vómitos. Antecedente de obesidad y diabetes diagnosticada 3 años antes. Presentaba hipotensión arterial, hiperpigmentación de mucosas...

  2. Type II canal configuration and Type I Dens invaginatus.

    Science.gov (United States)

    Liji, Mele Puthukudy; Chandrababu, Krishnankutty; Kumar, Maroli Ramesh; Jayashree, Santhadevi

    2014-07-01

    The prevalent notion about maxillary central incisor with normal external morphology is a tooth with single root and root canal. A case in which all four maxillary incisors were having Type II canal configurations (Vertucci's classification) is reported, in addition, the lateral incisors revealed dens invaginatus with a Type I pattern as suggested by Ohler's classification and a large periapical lesion was seen in relation to the right lateral incisor. The diagnosis was confirmed with the aid of spiral computed tomography (CT) and canals obturated. Nonsurgical healing of the lesion was assessed by reviewing the case at prefixed intervals of time.

  3. Spectral modeling of Type II SNe

    Science.gov (United States)

    Dessart, Luc

    2015-08-01

    The red supergiant phase represents the final stage of evolution in the life of moderate mass (8-25Msun) massive stars. Hidden from view, the core changes considerably its structure, progressing through the advanced stages of nuclear burning, and eventually becomes degenerate. Upon reaching the Chandrasekhar mass, this Fe or ONeMg core collapses, leading to the formation of a proto neutron star. A type II supernova results if the shock that forms at core bounce, eventually wins over the envelope accretion and reaches the progenitor surface.The electromagnetic display of such core-collapse SNe starts with this shock breakout, and persists for months as the ejecta releases the energy deposited initially by the shock or continuously through radioactive decay. Over a timescale of weeks to months, the originally optically-thick ejecta thins out and turns nebular. SN radiation contains a wealth of information about the explosion physics (energy, explosive nucleosynthesis), the progenitor properties (structure and composition). Polarised radiation also offers signatures that can help constrain the morphology of the ejecta.In this talk, I will review the current status of type II SN spectral modelling, and emphasise that a proper solution requires a time dependent treatment of the radiative transfer problem. I will discuss the wealth of information that can be gleaned from spectra as well as light curves, from both the early times (photospheric phase) and late times (nebular phase). I will discuss the diversity of Type SNe properties and how they are related to the diversity of red supergiant stars from which they originate.SN radiation offers an alternate means of constraining the properties of red-supergiant stars. To wrap up, I will illustrate how SNe II-P can also be used as probes, for example to constrain the metallicity of their environment.

  4. Crigler-Najjar Syndrome Type 2

    Directory of Open Access Journals (Sweden)

    Ching-Shan Huang

    2006-01-01

    Full Text Available Crigler-Najjar syndrome is a rare disorder of bilirubin metabolism with two distinct forms: type 1 and type 2. We report three patients with Crigler-Najjar syndrome type 2 (CN-2. All patients had serum bilirubin values higher than 171 μmol/L and deep yellow skin color. The results of other liver function tests, glucose-6-phosphate dehydrogenase activity and hematology tests were normal, and immunologic tests for hepatitis A, B and C were negative, although one patient had slightly elevated alanine aminotransferase level (45 IU/L. Polymerase chain reaction and sequence analysis of the UDP-glucuronosyltransferase 1A1 (UGT1A1 gene revealed a novel homozygous T > A mutation at nucleotide 479 in exon 1 (Val160Glu of patient 1, a novel homozygous A >G mutation at nucleotide 610 in exon 1 (Met204Val of patient 2, and a homozygous T >G variation at nucleotide 1456 in exon 5 (Tyr486Asp plus a heterozygous G > A variation at nucleotide 211 in exon 1 (Gly71 Arg/normal of patient 3. Two of these mutations were novel and variations identified within the coding region of the UGT1A1 gene were considered the cause of CN-2 in all three patients.

  5. Brain stem type neuro-Behcet's syndrome

    International Nuclear Information System (INIS)

    Kataoka, Satoshi; Hirose, Genjiro; Kosoegawa, Hiroshi; Oda, Rokuhei; Yoshioka, Akira

    1987-01-01

    Two cases of brain stem type Neuro-Behcet's syndrome were evaluated by brain CT and Magnetic Resonance Imaging (Super-conducting type, 0.5 tesla) to correlate with the neurological findings. In the acute phase, low density area with peripheral enhancement effect and mass effect were seen at the brain stem in brain CT. MRI revealed a extensive high intensity signal area mainly involving the corticospinal tract in the meso-diencephalon as well as pons by T 2 weighted images (spin echo, TR = 1, 600 msec, TE = 90 msec) and the value of T 1 , T 2 , at the brain stem lesion were prolonged moderately. After high dose steroid treatment, the low density area in brain CT and high signal area in MRI were gradually reduced in its size. Peripheral enhancement effect in brain CT disappeared within 10 months in case 1, one month in the other case. In the chronic stage, the reduction of low density area and atrophy of brain stem were noted in brain CT. The lesion in chronic stage had low intensity in T 1 , T 2 weighted images and the T 1 , T 2 values at the lesion were mildly prolonged in MRI. Sequentially CT with enhancement and MRI examinations with T 1 , T 2 weighted images were useful to detect the lesion and to evaluate the activity, evolution of brain stem type Neuro-Behcet's syndrome. (author)

  6. A phase II, randomized, single-blinded, placebo-controlled clinical trial on the efficacy of Curcumina and Calendula suppositories for the treatment of patients with chronic prostatitis/chronic pelvic pain syndrome type III.

    Science.gov (United States)

    Morgia, Giuseppe; Russo, Giorgio Ivan; Urzì, Daniele; Privitera, Salvatore; Castelli, Tommaso; Favilla, Vincenzo; Cimino, Sebastiano

    2017-06-30

    The management of chronic prostatitis/ chronic pelvic pain syndrome type III (CP/CPPS) has been always considered complex due to several biopsychological factors underling the disease. In this clinical study, we aimed to evaluate the efficacy of the treatment with Curcumin and Calendula extract in patients with CP/CPPS III. From June 2015 to January 2016 we enrolled 60 consecutive patients affected by CP/CPPS III in our institution. Patients between 20 and 50 year of age with symptoms of pelvic pain for 3 months or more before study, a total National Institutes of Health Chronic Prostatitis Symptom Index (NIH-CPSI) score ≥ 15 point and diagnosed with NIH category III. Patients were then allocated to receive placebo (Group A) or treatment (Group B). Treatment consisted of rectal suppositories of Curcumin extract 350 mg (95%) and Calendula extract 80 mg (1 suppository/die for 1 month). Patients of Group B received 1 suppository/die for 1 month of placebo. The primary endpoint of the study was the reduction of NIH-CPSI. The secondary outcomes were the change of peak flow, IIEF-5, VAS score and of premature ejaculation diagnostic tool (PEDT). A total of 48 patients concluded the study protocol. The median age of the all cohort was 32.0 years, the median NIH-CPSI was 20.5, the median IIEF-5 was 18.5, the median PEDT was 11.0, the median VAS score was 7.5 and the median peak flow was 14.0. After 3 months of therapy in group A we observed a significant improvement of NIH-CPSI (-5.5; p < 0.01), IIEF-5 (+ 3.5; p < 0.01), PEDT (-6.5; p < 0.01), peak flow (+2.8; p < 0.01) and VAS (-6.5; p < 0.01) with significant differences over placebo group (all p-value significant). In this phase II clinical trial we showed the clinical efficacy of the treatment with Curcumin and Calendula in patients with CP/CPPS III. The benefits of this treatment could be related to the reduction of inflammatory cytokines and of inflammatory cells. These results should be confirmed in further studies

  7. A phase II, randomized, single-blinded, placebo-controlled clinical trial on the efficacy of Curcumina and Calendula suppositories for the treatment of patients with chronic prostatitis/chronic pelvic pain syndrome type III

    Directory of Open Access Journals (Sweden)

    Giuseppe Morgia

    2017-06-01

    Full Text Available Objective: The management of chronic prostatitis/ chronic pelvic pain syndrome type III (CP/CPPS has been always considered complex due to several biopsychological factors underling the disease. In this clinical study, we aimed to evaluate the efficacy of the treatment with Curcumin and Calendula extract in patients with CP/CPPS III. Material and methods: From June 2015 to January 2016 we enrolled 60 consecutive patients affected by CP/CPPS III in our institution. Patients between 20 and 50 year of age with symptoms of pelvic pain for 3 months or more before study, a total National Institutes of Health Chronic Prostatitis Symptom Index (NIH-CPSI score ≥ 15 point and diagnosed with NIH category III. Patients were then allocated to receive placebo (Group A or treatment (Group B. Treatment consisted of rectal suppositories of Curcumin extract 350 mg (95% and Calendula extract 80 mg (1 suppository/die for 1 month. Patients of Group B received 1 suppository/die for 1 month of placebo. The primary endpoint of the study was the reduction of NIH-CPSI. The secondary outcomes were the change of peak flow, IIEF-5, VAS score and of premature ejaculation diagnostic tool (PEDT. Results: A total of 48 patients concluded the study protocol. The median age of the all cohort was 32.0 years, the median NIH-CPSI was 20.5, the median IIEF-5 was 18.5, the median PEDT was 11.0, the median VAS score was 7.5 and the median peak flow was 14.0. After 3 months of therapy in group A we observed a significant improvement of NIH-CPSI (-5.5; p < 0.01, IIEF-5 (+ 3.5; p < 0.01, PEDT (-6.5; p < 0.01, peak flow (+2.8; p < 0.01 and VAS (-6.5; p < 0.01 with significant differences over placebo group (all p-value significant. Conclusions: In this phase II clinical trial we showed the clinical efficacy of the treatment with Curcumin and Calendula in patients with CP/CPPS III. The benefits of this treatment could be related to the reduction of inflammatory cytokines and of

  8. Type VII collagen in Alport syndrome.

    Science.gov (United States)

    Giannakakis, Konstantinos; Massella, Laura; Grassetti, Daniele; Dotta, Francesco; Perez, Marie; Muda, Andrea Onetti

    2007-12-01

    Absence or segmental distribution of the alpha5(IV) collagen chain along the epidermal basement membrane (EBM) is diagnostic of X-linked Alport syndrome (X-AS), but the typical morphologic alterations usually observed along the glomerular basement membrane (GBM) are lacking. However, several differences in protein composition exist between GBM and EBM, and such differences could account for a different phenotype with the same genetic defect. Type VII collagen is one of the major collagenous components of the EBM; the purpose of this study was to investigate the modifications of protein synthesis and expression of type VII collagen in the skin of patients with X-AS. The distribution of type VII collagen has been studied in 15 skin biopsies (10 from X-AS patients and 5 controls) by means of electron microscopy, immunofluorescence and confocal microscopy; type VII collagen mRNA expression was also measured by RT-PCR on the same skin fragments. Protein and mRNA amounts for type VII collagen were significantly higher in skin samples from X-AS patients than in controls (P < 0.001); highest values were in cases in which alpha5(IV) was completely absent. Our results indicate that lack of alpha5(IV) molecule significantly alters the assembly of extracellular matrix molecules other than alphax(IV) chains also at the EBM level. We suggest that the increased synthesis and deposition of type VII collagen is likely to balance the absence of stabilizing activity normally exerted by alpha5(IV).

  9. Usher syndrome type III can mimic other types of Usher syndrome.

    NARCIS (Netherlands)

    Pennings, R.J.E.; Fields, R.R.; Huygen, P.L.M.; Deutman, A.F.; Kimberling, W.J.; Cremers, C.W.R.J.

    2003-01-01

    Clinical and genetic characteristics are presented of 2 patients from a Dutch Usher syndrome type III family who have a new homozygous USH3 gene mutation: 149-152delCAGG + insTGTCCAAT. One individual (IV:1) is profoundly hearing impaired and has normal vestibular function and retinitis punctata

  10. Nucleosynthesis in Type II Supernova Explosions

    Science.gov (United States)

    Elliott, Carrie; Hix, W. Raphael; Harris, A.; Manneschmidt, A.

    2016-09-01

    Type II are the most common class of the ``core collapse'' supernova, involving the destruction of a high mass star (> 8M⊙). Their death is a result of a self-gravitational force becoming unbalanced as fusion ceases in the stellar core, leading to the collapse of the core to form a neutron star. The propagation of the shock ignites fusion into heavier elements as it progress through the star. This process is the origin of most elements present in the universe. In recent years, the complex nature of the explosion (its hydrodynamics, transport of energy, and the created isotopes) have been studied with increasing physical fidelity. Detailed nucleosynthesis from models of these core collapse supernovae is calculated in a post-processing step, using thermodynamic trajectories. My work on the project has been to develop the tools to visualize the results of post-processing calculations in the 2D grid. National Science Foundation (NSF).

  11. Acromion types and role of corticosteroid with shoulder impingement syndrome

    International Nuclear Information System (INIS)

    Akram, M.; Gillani, S.F.U.S.; Awais, S.M.

    2016-01-01

    To determine the association between shoulder impingement and morphological characteristics of acromion and the role of sub-acromial injection of methylprednisolone in the short-term treatment for relieving pain and improve functional disability of these patients. Study Design: A descriptive study. Place and Duration of Study: Department of Orthopedic Surgery and Traumatology Unit-I (DOST-I), Mayo Hospital, Lahore, between November 2013 to June 2014. Methodology: All patients presented in OPD with shoulder pain were included as subjects and evaluated by clinical test and categorised using X-ray scapula Y-view. Patients with impingement syndrome were correlated with Bigliani types and offered intra-lesional injection into sub-acromial space with 2ml of xylocaine 2% and 40 mg of methylprednisolone using 22 gauge needle. The effectiveness was assessed in terms of relieving pain and good functional outcomes; and rotator cuff tear was clinically assessed among impingement positive patient. The pain was assessed using visual analogue score before and after the administration of the injection. Demographic variables for frequencies and their associations were analysed using SPSS version 20.0. Significance level was p<0.05. Among the 101 cases, there was no case of tear of rotator cuff tendon on clinical assessment. Majority of the patients (58.4%) were females with mean age of 31.38 +-1.13 years. Majority 57 (56.4%) of the patients had acromion type II (curved), which was the most common cause of shoulder impingement. Most had moderate pain. Thirty-four patients required intralesional steroid, which relieved the pain in 31 of them. Conclusion: Shoulder impingement syndrome without tear of rotator cuff tendon was found in younger age group between 40 to 45 years, which was relieved by intralesional corticosteroid administration. These patients had type II (curved) acromion, according to Bigliani classification. (author)

  12. Acromion Types and Role of Corticosteroid with Shoulder Impingement Syndrome.

    Science.gov (United States)

    Akram, Muhammad; Shah Gillani, Syed Faraz Ul Hassan; Farooqi, Faheem Mubashir; Awais, Syed Muhammad

    2016-12-01

    To determine the association between shoulder impingement and morphological characteristics of acromion and the role of sub-acromial injection of methylprednisolone in the short-term treatment for relieving pain and improve functional disability of these patients. A descriptive study. Department of Orthopedic Surgery and Traumatology Unit-I (DOST-I), Mayo Hospital, Lahore, between November 2013 to June 2014. All patients presented in OPD with shoulder pain were included as subjects and evaluated by clinical test and categorised using X-ray scapula Y-view. Patients with impingement syndrome were correlated with Bigliani types and offered intra-lesional injection into sub-acromial space with 2ml of xylocaine 2% and 40 mg of methylprednisolone using 22 gauge needle. The effectiveness was assessed in terms of relieving pain and good functional outcomes; and rotator cuff tear was clinically assessed among impingement positive patient. The pain was assessed using visual analogue score before and after the administration of the injection. Demographic variables for frequencies and their associations were analysed using SPSS version 20.0. Significance level was p shoulder impingement. Most had moderate pain. Thirty-four patients required intralesional steroid, which relieved the pain in 31 of them. Shoulder impingement syndrome without tear of rotator cuff tendon was found in younger age group between 40 to 45 years, which was relieved by intralesional corticosteroid administration. These patients had type II (curved) acromion, according to Bigliani classification.

  13. Justice at Work and Metabolic Syndrome: the Whitehall II Study

    Science.gov (United States)

    Gimeno, David; Tabák, Ádám G.; Ferrie, Jane E.; Shipley, Martin J.; De Vogli, Roberto; Elovainio, Marko; Vahtera, Jussi; Marmot, Michael G.; Kivimäki, Mika

    2011-01-01

    Objectives Growing evidence shows that high levels of justice are beneficial for employee health, although biological mechanisms underlying this association are yet to be clarified. We aim to test whether high justice at work protects against metabolic syndrome. Methods A prospective cohort study of 20 civil service departments in London (the Whitehall II study) including 6123 male and female British civil servants aged 35 to 55 years without prevalent CHD at baseline (1985-1990). Perceived justice at work was determined by means of questionnaire on two occasions between 1985 and 1990. Follow-up for metabolic syndrome and its components occurring from 1990 through 2004 was based on clinical assessments on three occasions over more than 18 years. Results Cox proportional hazard models adjusted for age, ethnicity and employment grade showed that men who experienced a high level of justice at work had a lower risk of incident metabolic syndrome than employees with a low level of justice (hazard ratio 0.75; 95% confidence interval: 0.63-0.89). There was little evidence of an association between organizational justice and metabolic syndrome or its components in women (hazard ratio 0.88; 95%CI: 0.67-1.17). Conclusions Our prospective findings provide evidence of an association between high levels of justice at work and the development of metabolic syndrome in men. PMID:19819861

  14. Recent Concepts of Ovarian Carcinogenesis: Type I and Type II

    Directory of Open Access Journals (Sweden)

    Masafumi Koshiyama

    2014-01-01

    Full Text Available Type I ovarian tumors, where precursor lesions in the ovary have clearly been described, include endometrioid, clear cell, mucinous, low grade serous, and transitional cell carcinomas, while type II tumors, where such lesions have not been described clearly and tumors may develop de novo from the tubal and/or ovarian surface epithelium, comprise high grade serous carcinomas, undifferentiated carcinomas, and carcinosarcomas. The carcinogenesis of endometrioid and clear cell carcinoma (CCC arising from endometriotic cysts is significantly influenced by the free iron concentration, which is associated with cancer development through the induction of persistent oxidative stress. A subset of mucinous carcinomas develop in association with ovarian teratomas; however, the majority of these tumors do not harbor any teratomatous component. Other theories of their origin include mucinous metaplasia of surface epithelial inclusions, endometriosis, and Brenner tumors. Low grade serous carcinomas are thought to evolve in a stepwise fashion from benign serous cystadenoma to a serous borderline tumor (SBT. With regard to high grade serous carcinoma, the serous tubal intraepithelial carcinomas (STICs of the junction of the fallopian tube epithelium with the mesothelium of the tubal serosa, termed the “tubal peritoneal junction” (TPJ, undergo malignant transformation due to their location, and metastasize to the nearby ovary and surrounding pelvic peritoneum. Other theories of their origin include the ovarian hilum cells.

  15. Nonlocal conductivity in type-II superconductors

    International Nuclear Information System (INIS)

    Mou, C.; Wortis, R.; Dorsey, A.T.; Huse, D.A.

    1995-01-01

    Multiterminal transport measurements on YBa 2 Cu 2 O 7 crystals in the vortex liquid regime have shown nonlocal conductivity on length scales up to 50 microns. Motivated by these results we explore the wave vector (k) dependence of the dc conductivity tensor, σ μν (k), in the Meissner, vortex lattice, and disordered phases of a type-II superconductor. Our results are based on time-dependent Ginzburg-Landau (TDGL) theory and on phenomenological arguments. We find four qualitatively different types of behavior. First, in the Meissner phase, the conductivity is infinite at k=0 and is a continuous function of k, monotonically decreasing with increasing k. Second, in the vortex-lattice phase, in the absence of pinning, the conductivity is finite (due to flux flow) at k=0; it is discontinuous there and remains qualitatively like the Meissner phase for k>0. Third, in the vortex liquid regime in a magnetic field and at low temperature, the conductivity is finite, smooth and nonmonotonic, first increasing with k at small k and then decreasing at larger k. This third behavior is expected to apply at temperatures just above the melting transition of the vortex lattice, where the vortex liquid shows strong short-range order and a large viscosity. Finally, at higher temperatures in the disordered phase, the conductivity is finite, smooth and again monotonically decreasing with k. This last, monotonic behavior applies in zero magnetic field for the entire disordered phase, i.e., at all temperatures above T c , while in a field the nonmonotonic behavior may occur in a low-temperature portion of the disordered phase

  16. Type-II Symmetry-Protected Topological Dirac Semimetals

    Science.gov (United States)

    Chang, Tay-Rong; Xu, Su-Yang; Sanchez, Daniel S.; Tsai, Wei-Feng; Huang, Shin-Ming; Chang, Guoqing; Hsu, Chuang-Han; Bian, Guang; Belopolski, Ilya; Yu, Zhi-Ming; Yang, Shengyuan A.; Neupert, Titus; Jeng, Horng-Tay; Lin, Hsin; Hasan, M. Zahid

    2017-07-01

    The recent proposal of the type-II Weyl semimetal state has attracted significant interest. In this Letter, we propose the concept of the three-dimensional type-II Dirac fermion and theoretically identify this new symmetry-protected topological state in the large family of transition-metal icosagenides, M A3 (M =V , Nb, Ta; A =Al , Ga, In). We show that the VAl3 family features a pair of strongly Lorentz-violating type-II Dirac nodes and that each Dirac node can be split into four type-II Weyl nodes with chiral charge ±1 via symmetry breaking. Furthermore, we predict that the Landau level spectrum arising from the type-II Dirac fermions in VAl3 is distinct from that of known Dirac or Weyl semimetals. We also demonstrate a topological phase transition from a type-II Dirac semimetal to a quadratic Weyl semimetal or a topological crystalline insulator via crystalline distortions.

  17. Waardenburg syndrome type 2: an orthodontic perspective.

    Science.gov (United States)

    Şuhani, Raluca Diana; Şuhani, Mihai Flaviu; Muntean, Alexandrina; Mesaroş, Michaela Florica; Badea, Mîndra Eugenia

    2015-01-01

    Waardenburg syndrome is a rare form of neurocristopathy. It is a disorder in the development of neural crest cells, caused by an altered cellular migration during the embryonic phase. That alteration causes an association of different abnormalities such as pigmentary disturbances of the hair, iris, skin, stria vascularis of the cochlea, dystopia canthorum and sensorineural hearing loss. We report a case of a 14-year-old Romanian male, with a family history of Waardenburg syndrome (mother) and Usher syndrome (father - congenitally sensorineural hearing loss and retinal degeneration). The case particularities are: the correlation between malocclusion and Waardenburg syndrome due to hypoplastic alae nasi and also factors that produced hearing loss, which could be Waardenburg syndrome, Usher syndrome or the presence of the connexin 26 (W24X) gene mutation.

  18. The velocities of type II solar radio bursts

    International Nuclear Information System (INIS)

    Tlamicha, A.; Karlicky, M.

    1976-01-01

    A list is presented of type II radio bursts identified at Ondrejov between January 1973 and December 1974 in the frequency range of the dynamic spectrum 70 to 810 MHz. The velocities of shock waves in the individual cases of type II bursts are given using the fourfold Newkirk model. Some problems associated with type II radio bursts and with the propagation of the shock wave into the interplanetary space and into the region of the Earth are also discussed. (author)

  19. PKMiner: a database for exploring type II polyketide synthases

    OpenAIRE

    Kim Jinki; Yi Gwan-Su

    2012-01-01

    Abstract Background Bacterial aromatic polyketides are a pharmacologically important group of natural products synthesized by type II polyketide synthases (type II PKSs) in actinobacteria. Isolation of novel aromatic polyketides from microbial sources is currently impeded because of the lack of knowledge about prolific taxa for polyketide synthesis and the difficulties in finding and optimizing target microorganisms. Comprehensive analysis of type II PKSs and the prediction of possible polyke...

  20. Self-dual nonsupersymmetric Type II String Compactifications

    International Nuclear Information System (INIS)

    Kachru, Shamit; Silverstein, Eva

    1998-01-01

    It has recently been proposed that certain nonsupersymmetric type II orbifolds have vanishing perturbative contributions to the cosmological constant. We show that techniques of Sen and Vafa allow one to construct dual type II descriptions of these models (some of which have no weakly coupled heterotic dual). The dual type II models are given by the same orbifolds with the string coupling S and a T 2 volume T exchanged. This allows us to argue that in various strongly coupled limits of the original type II models, there are weakly coupled duals which exhibit the same perturbative cancellations as the original models

  1. Type-II Superlattice Avalanche Photodiodes

    Science.gov (United States)

    Huang, Jun

    Type-II superlattice avalanche photodiodes have shown advantages compared to conventional mercury cadmium telluride photodiodes for infrared wavelength detection. However, surface or interface leakage current has been a major issue for superlattice avalanche photodiodes, especially in infrared wavelength region. First, passivation of the superlattice device with ammonium sulfide and thioacetamide was carried out, and its surface quality was studied by X-ray Photoelectron Spectroscopy. The study showed that both ammonium sulfide and thiacetamide passivation can actively remove the native oxide at the surface. Thiacetamide passivation combine more sulfur bonds with III-V elements than that of ammonium sulfide. Another X-ray photoelectron spectra of thiacetamide-treated atomic layer deposited zinc sulfide capped InAs/GaSb superlattice was performed to investigate the interface sulfur bond conditions. Sb--S and As--S bonds disappear while In-S bond gets enhanced, indicating that Indium Sulfide should be the major components at the interface after ZnS deposition. Second, the simulation of electrical characteristics for zinc sulfide, silicon nitride and silicon dioxide passivated superlattice devices was performed by SILVACO software to fit the experimental results and to discover the surface current mechanism. Different surface current mechanism strengths were found. Third, several novel dual-carrier avalanche photodiode structures were designed and simulated. The structures had alternate carrier multiplication regions, placed next to a wider electron multiplication region, creating dual-carrier multiplication feedback systems. Gain and excess noise factor of these structures were simulated and compared based on the dead space multiplication theory under uniform electric field. From the simulation, the applied bias can be greatly lowered or the thickness can be shrunk to achieve the same gain from the conventional device. The width of the thin region was the most

  2. Type II and type III deiodinase activity in human placenta as a function of gestational age

    NARCIS (Netherlands)

    Koopdonk-Kool, J. M.; de Vijlder, J. J.; Veenboer, G. J.; Ris-Stalpers, C.; Kok, J. H.; Vulsma, T.; Boer, K.; Visser, T. J.

    1996-01-01

    Thyroid hormones are essential for fetal development. T4 can be activated by type I (ID-I) and type II (ID-II) iodothyronine deiodinase or inactivated by type III deiodinase (ID-III). The influence of placental ID-II and ID-III on the regulation of fetal thyroid hormone levels was investigated.

  3. Mirizzi Syndrome Type 2: A Case Report

    Directory of Open Access Journals (Sweden)

    Aydemir Ölmez

    2009-01-01

    Full Text Available Mirizzi syndrome is an unusual complication of gallstone disease and occurs in approximately 1% of these pa-tients. Some cases can not be identified preoperatively; despite modern imaging techniques. Today; treatment of Mirizzi syndrome is surgical. If Mirizzi syndrome is pre-sent; the risk of bile duct injury increases; particularly during laparoscopic surgery. Therefore; preoperative or intraoperative diagnosis is important. Here; we pre-sented a 29 year-old woman with obstructive jaundice who diagnosed as cholelithiasis and choledocholithiasis. Preoperative endoscopic retrograde cholangiography re-lieved the common bile duct stone but cound not diag-nosed the Mirizzi syndrome preoperatively. During lapa-roscopy; the diagnosis of Mirizzi syndrome was sus-pected early and the procedure was converted to open cholecystectomy and T-tube to common bile duct. There was no bile duct injury and postoperative course was uneventful.

  4. Clinical Presentation of Mucopolysaccharidosis Type II (Hunter's ...

    African Journals Online (AJOL)

    hanumantp

    intelligence is normal, stature is near normal, and clinical features are less obvious.[9] Our patient likely belongs to the mild forms as evidenced by an intelligent quotient of 64% elicited by draw a man test.[10]. Cutaneous features are peculiar to this syndrome and may be the initial manifestation in the mild disease, although ...

  5. Biomarkers of Type II Synthetic Pyrethroid Pesticides in Freshwater Fish

    Directory of Open Access Journals (Sweden)

    Anilava Kaviraj

    2014-01-01

    Full Text Available Type II synthetic pyrethroids contain an alpha-cyano group which renders them more neurotoxic than their noncyano type I counterparts. A wide array of biomarkers have been employed to delineate the toxic responses of freshwater fish to various type II synthetic pyrethroids. These include hematological, enzymatic, cytological, genetic, omic and other types of biomarkers. This review puts together the applications of different biomarkers in freshwater fish species in response to the toxicity of the major type II pyrethroid pesticides and assesses their present status, while speculating on the possible future directions.

  6. The prevalence of microalbuminuria among patients with type II ...

    African Journals Online (AJOL)

    This cross-sectional community-based study was carried out to determine the prevalence of microalbuminuria among patients with type II diabetes mellitus in a primary care setting, and to study the association between various risk factors and the presence of microalbuminuria. All patients with type II diabetes mellitus who ...

  7. Prevalence of the metabolic syndrome among patients with type 2 ...

    African Journals Online (AJOL)

    Background: The metabolic syndrome is a cluster of risk factors that is responsible for most of the excess cardiovascular morbidity amongst persons with type 2 Diabetes Mellitus (DM). The metabolic syndrome increases the risk for coronary heart disease and stroke by three-fold with a marked increase in cardiovascular ...

  8. Metabolic Syndrome among Type-2 Diabetic Patients in Benghazi ...

    African Journals Online (AJOL)

    Background: Metabolic syndrome is a cluster of three out of five conditions that are due to hyperinsulinemia: abdominal obesity, atherogenic dyslipidemia (high triglycerides and/or low HDL), elevated blood pressure, and elevated plasma glucose. The syndrome is highly prevalent in patients with type-2 diabetes mellitus ...

  9. ATX-II-induced pulmonary vein arrhythmogenesis related to atrial fibrillation and long QT syndrome.

    Science.gov (United States)

    Lu, Yen-Yu; Cheng, Chen-Chuan; Chen, Yao-Chang; Chen, Shih-Ann; Chen, Yi-Jen

    2012-08-01

    Long QT syndrome (LQTS) is associated with a high incidence of atrial fibrillation (AF), but the underlying mechanisms are unclear. Pulmonary veins (PVs) play a critical role in AF genesis. Type 3 LQTS increases late sodium current (I(Na,L) ), which may increase PV arrhythmogenesis and AF. Therefore, this study examines PV arrhythmogenesis in anemonia sulcata toxin II (ATX-II)-induced type 3 LQTS and evaluates whether the I(Na,L) inhibitor ranolazine can suppress PV arrhythmogenesis. Conventional microelectrodes were used to record the action potentials (AP) and contractility in isolated rabbit PV specimens before and after ATX-II administration with or without ranolazine. Anemonia sulcata toxin II (100 nM) increased the PV spontaneous rates from 2·0 ± 0·1 to 2·9 ± 0·2 Hz (n = 7), induced PV burst firing (100%) with the genesis of early afterdepolarization (EAD) (86%) and prolonged the AP duration. Ranolazine (0·1, 1 and 10 μM) dose dependently reduced the PV spontaneous rates from 2·5 ± 0·2 to 2·3 ± 0·2 Hz, 1·9 ± 0·2 and 1·5 ± 0·3 Hz (P ATX-II (100 nM) further increased the AP duration. However, ATX-II neither increased the PV spontaneous rates (1·6 ± 0·1 vs. 1·7 ± 0·2 Hz, n = 7) nor induced PV burst firing or EAD. Moreover, ranolazine (10 μM) reduced ATX-II-induced PV acceleration and EAD. The I(Na,L) enhancer ATX-II can increase PV arrhythmogenesis, which can be attenuated or blocked by ranolazine. This suggests that AF may be related to type 3 LQTS through increased I(Na,L) . © 2012 The Authors. European Journal of Clinical Investigation © 2012 Stichting European Society for Clinical Investigation Journal Foundation.

  10. Mutation and biochemical analysis in carnitine palmitoyltransferase type II (CPT II) deficiency

    DEFF Research Database (Denmark)

    Olpin, S E; Afifi, A; Clark, S

    2003-01-01

    Carnitine palmitoyltransferase type II (CPT II) deficiency has three basic phenotypes, late-onset muscular (mild), infantile/juvenile hepatic (intermediate) and severe neonatal. We have measured fatty acid oxidation and CPT II activity and performed mutation studies in 24 symptomatic patients rep...

  11. Gastrointestinal and nutritional issues in joint hypermobility syndrome/Ehlers-Danlos syndrome, hypermobility type.

    Science.gov (United States)

    Castori, Marco; Morlino, Silvia; Pascolini, Giulia; Blundo, Carlo; Grammatico, Paola

    2015-03-01

    Gastrointestinal involvement is a well known complication of Ehlers-Danlos syndromes (EDSs), mainly in form of abdominal emergencies due to intestinal/abdominal vessels rupture in vascular EDS. In the last decade, a growing number of works investigated the relationship between a wide spectrum of chronic gastrointestinal complaints and various EDS forms, among which the hypermobility type (a.k.a. joint hypermobility syndrome; JHS/EDS-HT) was the most studied. The emerging findings depict a major role for gastrointestinal involvement in the health status and, consequently, management of JHS/EDS-HT patients. Nevertheless, fragmentation of knowledge limits its impact on practice within the boundaries of highly specialized clinics. In this paper, literature review on gastrointestinal manifestations in JHS/EDS-HT was carried out and identified papers categorized as (i) case-control/cohort studies associating (apparently non-syndromic) joint hypermobility and gastrointestinal involvement, (ii) case-control/cohort studies associating JHS/EDS-HT and gastrointestinal involvement, (iii) case reports/series on various gastrointestinal complications in (presumed) JHS/EDS-HT, and (iv) studies reporting gastrointestinal features in heterogeneous EDS patients' cohorts. Gastrointestinal manifestations of JHS/EDS-HT were organized and discussed in two categories, including structural anomalies (i.e., abdominal/diaphragmatic hernias, internal organ/pelvic prolapses, intestinal intussusceptions) and functional features (i.e., dysphagia, gastro-esophageal reflux, dyspepsia, recurrent abdominal pain, constipation/diarrhea), with emphasis on practice and future implications. In the second part of this paper, a summary of possible nutritional interventions in JHS/EDS-HT was presented. Supplementation strategies were borrowed from data available for general population with minor modifications in the light of recent discoveries in the pathogenesis of selected JHS/EDS-HT features. © 2015

  12. Unusual case of failure to thrive: Type III Bartter syndrome.

    Science.gov (United States)

    Agrawal, S; Subedi, K; Ray, P; Rayamajhi, A

    2016-09-01

    Bartter syndrome Type III is a rare autosomal recessive disorder resulting from an inherited defect in the thick ascending limb of the loop of henle of the nephrons in kidney. The typical clinical manifestations in childhood are failure to thrive and recurrent episodes of vomiting. Typical laboratory findings which help in the diagnosis are hypokalemic metabolic alkalosis, hypomagnesemia and hypercalciuria. We report a case of Type III Bartter syndrome not responding to repeated conventional treatment of failure to thrive.

  13. CT appearance of liver and gallbladder in type II diabetics

    International Nuclear Information System (INIS)

    Li Jingshan; Li Wei; Zhang Yuzhong; Zhao Xiuyi; Zhang Xuelin

    2005-01-01

    Objective: To evaluate CT findings of liver and gallbladder in type II diabetics and to discuss diabetic, and investigate the correlation between type II diabetics, and investigate the correlation between the diabetes and the lesions found in the liver or gallbladder. Methods: Retrospective analysis was made on the CT findings of hepatic and gallbladder lesions in 586 cases of II diabetes. Results: In total 586 type II diabetics, cholecystitis and/or gallstone were revealed in 33.45% patients; and hepatic alteration was noted in 20.48% cases. Hepatic abnormalities were found in 58.67% cases in the cholecystitis/gallstone group, significantly different from the group with unremarkable gallbladder, in which hepatic lesions were found only in 1.28% cases. Conclusion: The hepatic alteration is secondary to the gallbladder lesions in type II diabetics. (authors)

  14. TAT gene mutation analysis in three Palestinian kindreds with oculocutaneous tyrosinaemia type II; characterization of a silent exonic transversion that causes complete missplicing by exon 11 skipping

    DEFF Research Database (Denmark)

    Maydan, G; Andresen, B S; Madsen, P P

    2006-01-01

    Deficiency of the hepatic cytosolic enzyme tyrosine aminotransferase (TAT) causes marked hypertyrosinaemia leading to painful palmoplantar hyperkeratoses, pseudodendritic keratitis and variable mental retardation (oculocutaneous tyrosinaemia type II or Richner-Hanhart syndrome). Parents may...

  15. Genetics Home Reference: trichorhinophalangeal syndrome type I

    Science.gov (United States)

    ... on PubMed or Free article on PubMed Central Maas S, Shaw A, Bikker H, Hennekam RCM. Trichorhinophalangeal Syndrome. ... nlm.nih.gov/books/NBK425926/ Citation on PubMed Maas SM, Shaw AC, Bikker H, Lüdecke HJ, van ...

  16. Chains of N=2, D=4 heterotic type II duals

    CERN Document Server

    Aldazabal, G; Font, A; Quevedo, Fernando

    1996-01-01

    We report on a search for N=2 heterotic strings that are dual candidates of type II compactifications on Calabi-Yau threefolds described as K3 fibrations. We find many new heterotic duals by using standard orbifold techniques. The associated type II compactifications fall into chains in which the proposed duals are heterotic compactifications related one another by a sequential Higgs mechanism. This breaking in the heterotic side typically involves the sequence SU(4)\\rightarrow SU(3)\\rightarrow SU(2)\\rightarrow 0, while in the type II side the weights of the complex hypersurfaces and the structure of the K3 quotient singularities also follow specific patterns.

  17. Cartilage turnover reflected by metabolic processing of type II collagen

    DEFF Research Database (Denmark)

    Gudmann, Karoline Natasja Stæhr; Wang, Jianxia; Hoielt, Sabine

    2014-01-01

    The aim of this study was to enable measurement of cartilage formation by a novel biomarker of type II collagen formation. The competitive enzyme-linked immunosorbent assay (ELISA) Pro-C2 was developed and characterized for assessment of the beta splice variant of type II procollagen (PIIBNP....... To our knowledge this is the first assay, which is able to specifically evaluate PIIBNP excretion. The Pro-C2 assay seems to provide a promising and novel marker of type II collagen formation....

  18. Serum markers for type II diabetes mellitus

    Energy Technology Data Exchange (ETDEWEB)

    Metz, Thomas O; Qian, Wei-Jun; Jacobs, Jon M; Polpitiya, Ashoka D; Camp, II, David G; Smith, Richard D

    2014-03-18

    A method for identifying persons with increased risk of developing type 2 diabetes mellitus utilizing selected biomarkers described hereafter either alone or in combination. The present invention allows for broad based, reliable, screening of large population bases and provides other advantages, including the formulation of effective strategies for characterizing, archiving, and contrasting data from multiple sample types under varying conditions.

  19. Gait Strategy in Patients with Ehlers-Danlos Syndrome Hypermobility Type and Down Syndrome

    Science.gov (United States)

    Rigoldi, Chiara; Galli, Manuela; Cimolin, Veronica; Camerota, Filippo; Celletti, Claudia; Tenore, Nunzio; Albertini, Giorgio

    2012-01-01

    People suffering from Ehlers-Danlos syndrome (EDS) hypermobility type present a severe ligament laxity that results in difficulties in muscle force transmission. The same condition is present in people suffering from Down syndrome (DS) even if their clumsy movements are due to cerebral and cognitive impairments. The aim of this study was to…

  20. Familial neurofibromatosis type 1 associated with an overgrowth syndrome resembling Weaver syndrome

    NARCIS (Netherlands)

    van Asperen, C. J.; Overweg-Plandsoen, W. C.; Cnossen, M. H.; van Tijn, D. A.; Hennekam, R. C.

    1998-01-01

    The simultaneous occurrence of familial neurofibromatosis type 1 (NF1) and an overgrowth syndrome resembling Weaver syndrome was observed in two related cases (a mother and her son). NF1 was confirmed by molecular genetic analysis showing a large deletion at 17q11.2, encompassing the entire NF1

  1. On authomorphisms of extremal type II codes

    Directory of Open Access Journals (Sweden)

    Ismael Gutiérrez García

    2013-01-01

    Full Text Available En el presente artículo se muestran algunas técnicas para obtener tipos de automorfismos de los códigos binarios auto-duales, doblemente pares y extremales, también denominados extremales de tipo II, con parámetros [24, 12, 8], [48, 24, 12] y [120, 60, 24]. El objetivo central es obtener informa- ción sobre el correspondiente grupo de automorfismos a partir de la exclusión de algunos números primos de su orden.

  2. Genetics Home Reference: glutaric acidemia type II

    Science.gov (United States)

    ... electron transfer flavoprotein alpha-subunit deficiency in two Japanese children with different phenotypes of glutaric acidemia type ... of Medicine Lister Hill National Center for Biomedical Communications 8600 Rockville Pike, Bethesda, MD 20894, USA HONCode ...

  3. Intersubband Light Emission Type II Heterostructures

    National Research Council Canada - National Science Library

    Mendez, Emillo

    2003-01-01

    We have studied the physics underlying some of the pending issues in quantum cascade lasers, with an emphasis on electronic transport across InAs/AlSb/GaSb heterojunctions - the building block of type...

  4. Histological Types of Polypoid Cutaneous Melanoma II

    OpenAIRE

    Knežević, Fabijan; Duančić, Vjekoslav; Šitić, Sanda; Horvat-Knežević, Anica; Benković, Vesna; Ramić, Snježana; Kostović, Krešimir; Ramljak, Vesna; Velemir Vrdoljak, Danko; Stanec, Mladen; Božović, Angelina

    2007-01-01

    The aim of this study was to ascertain which histological types of melanoma can clinically and morphologically appear as polypoid melanomas. In 645 cases of primary cutaneous melanoma we have analyzed criteria for diagnosis of polypoid cutaneous melanoma and afterwards we have analyzed growth phase in each polypoid melanoma, histological type of atypical melanocytes, the number of epidermal ridges which are occupied by atypical melanocytes, and distribution according to age, sex a...

  5. Tyrosine Hydroxylase Expression in Type II Cochlear Afferents in Mice.

    Science.gov (United States)

    Vyas, Pankhuri; Wu, Jingjing Sherry; Zimmerman, Amanda; Fuchs, Paul; Glowatzki, Elisabeth

    2017-02-01

    Acoustic information propagates from the ear to the brain via spiral ganglion neurons that innervate hair cells in the cochlea. These afferents include unmyelinated type II fibers that constitute 5 % of the total, the majority being myelinated type I neurons. Lack of specific genetic markers of type II afferents in the cochlea has been a roadblock in studying their functional role. Unexpectedly, type II afferents were visualized by reporter proteins induced by tyrosine hydroxylase (TH)-driven Cre recombinase. The present study was designed to determine whether TH-driven Cre recombinase (TH-2A-CreER) provides a selective and reliable tool for identification and genetic manipulation of type II rather than type I cochlear afferents. The "TH-2A-CreER neurons" radiated from the spiral lamina, crossed the tunnel of Corti, turned towards the base of the cochlea, and traveled beneath the rows of outer hair cells. Neither the processes nor the somata of TH-2A-CreER neurons were labeled by antibodies that specifically labeled type I afferents and medial efferents. TH-2A-CreER-positive processes partially co-labeled with antibodies to peripherin, a known marker of type II afferents. Individual TH-2A-CreER neurons gave off short branches contacting 7-25 outer hair cells (OHCs). Only a fraction of TH-2A-CreER boutons were associated with CtBP2-immunopositive ribbons. These results show that TH-2A-CreER provides a selective marker for type II versus type I afferents and can be used to describe the morphology and arborization pattern of type II cochlear afferents in the mouse cochlea.

  6. OUTCOME OF GARTLAND TYPEII SUPRACONDYLAR FRACTURES OF HUMERUS TREATED BY CONSERVATIVE METHOD

    Directory of Open Access Journals (Sweden)

    Dinesh Mitra

    2015-08-01

    Full Text Available BACKGROUND: The current literatures recommend operative method (closed reduction and pinning for type II supracondylar fractures of humerus. But some surgeons still prefer conservative method for type II supracondylar fractures of humerus. We pr esent results of 14 cases of type II supracondylar fractures treated with CR and AE POP immobilization . The purpose of this study is to evaluate the outcome of conservative treatment in management of type II supracondylar fracture of humerus. MATERIALS AND METHODS: Fourteen children treated by conservative methods (CR & AE POP between January 2013 and December 2014 is included in this study. The mean age group is 6.8 years (3 years - 11 years. The patient follow up is done for a minimum of 10 - 12 weeks. Treatment outcome is based on final clinical and radiological assessments and grading of results was done using Flynn’s criteria. RESULTS: Gartland type II fracture gives 82% excellent results and 28 % good results as per Flynn’s criteria. Of the 14 patien ts only two cases required re manipulation. Surgical intervention was not needed for any of the patients. No patients in this study developed compartment syndrome / cubitus varus deformity. CONCLUSION: Satisfactory results can be obtained with conservative treatment (closed reduction and above elbow POP if proper selection of the patient and careful clinical and radiological follow up is done

  7. NNDSS - Table II. Hepatitis (viral, acute, by type) C

    Data.gov (United States)

    U.S. Department of Health & Human Services — NNDSS - Table II. Hepatitis (viral, acute, by type) C - 2018. In this Table, provisional cases of selected notifiable diseases (≥1,000 cases reported during the...

  8. Genetics Home Reference: distal hereditary motor neuropathy, type II

    Science.gov (United States)

    ... neuropathy, type II change single protein building blocks ( amino acids ) in the protein sequence. If either protein is altered, they may be more likely to cluster together and form clumps (aggregates). Aggregates of heat shock proteins may ...

  9. NNDSS - Table II. Hepatitis (viral, acute, by type) A & B

    Data.gov (United States)

    U.S. Department of Health & Human Services — NNDSS - Table II. Hepatitis (viral, acute, by type) A & B - 2018. In this Table, provisional cases of selected notifiable diseases (≥1,000 cases reported...

  10. NNDSS - Table II. Hepatitis (viral, acute, by type) A & B

    Data.gov (United States)

    U.S. Department of Health & Human Services — NNDSS - Table II. Hepatitis (viral, acute, by type) A & B - 2018. In this Table, provisional cases of selected notifiable diseases (≥1,000 cases reported during...

  11. NNDSS - Table II. Hepatitis (viral, acute, by type) C

    Data.gov (United States)

    U.S. Department of Health & Human Services — NNDSS - Table II. Hepatitis (viral, acute, by type) C - 2018. In this Table, provisional cases of selected notifiable diseases (≥1,000 cases reported during the...

  12. [Types of dislipidemia in children with metabolic syndrome].

    Science.gov (United States)

    Hromnats'ka, N M

    2014-01-01

    To study dyslipidemia types in children with metabolic syndrome. From 1520 children of total population 155 children aged from 9 to 18 years were selected, who formed 2 groups: 1 group--85 children with metabolic syndrome, 2 group--54 children with normal body mass. Anthropometry, blood pressure measurement, estimation of total cholesterol, low density cholesterol, very low density cholesterol, high density cholesterol, tryglicerides in blood were done. The total cholesterol level was 1,1 times higher (p = 0.001), low density cholesterol 1,4 times higher (p = 0.001), very low density cholesterol 1,1 times higher (p= 0.015), tryglicerides 1,1 times higher (p = 0.020) in children with metabolic syndrome than in children of control group. In children with metabolic syndrome sensitively more often IIa, IV dislipidemia types and isolated hypercholesterolemia and less often IIb, III dislipidemia types and high density cholesterol isolated decrease were diagnosed. So children with metabolic syndrome were characterized by atherogenic types of dislipidemias which determine early atherosclerosis development. Children with metabolic syndrome must be examined on the lipid metabolism violation with the aim of its prevention and correction.

  13. PKMiner: a database for exploring type II polyketide synthases

    Directory of Open Access Journals (Sweden)

    Kim Jinki

    2012-08-01

    Full Text Available Abstract Background Bacterial aromatic polyketides are a pharmacologically important group of natural products synthesized by type II polyketide synthases (type II PKSs in actinobacteria. Isolation of novel aromatic polyketides from microbial sources is currently impeded because of the lack of knowledge about prolific taxa for polyketide synthesis and the difficulties in finding and optimizing target microorganisms. Comprehensive analysis of type II PKSs and the prediction of possible polyketide chemotypes in various actinobacterial genomes will thus enable the discovery or synthesis of novel polyketides in the most plausible microorganisms. Description We performed a comprehensive computational analysis of type II PKSs and their gene clusters in actinobacterial genomes. By identifying type II PKS subclasses from the sequence analysis of 280 known type II PKSs, we developed highly accurate domain classifiers for these subclasses and derived prediction rules for aromatic polyketide chemotypes generated by different combinations of type II PKS domains. Using 319 available actinobacterial genomes, we predicted 231 type II PKSs from 40 PKS gene clusters in 25 actinobacterial genomes, and polyketide chemotypes corresponding to 22 novel PKS gene clusters in 16 genomes. These results showed that the microorganisms capable of producing aromatic polyketides are specifically distributed within a certain suborder of Actinomycetales such as Catenulisporineae, Frankineae, Micrococcineae, Micromonosporineae, Pseudonocardineae, Streptomycineae, and Streptosporangineae. Conclusions We could identify the novel candidates of type II PKS gene clusters and their polyketide chemotypes in actinobacterial genomes by comprehensive analysis of type II PKSs and prediction of aromatic polyketides. The genome analysis results indicated that the specific suborders in actinomycetes could be used as prolific taxa for polyketide synthesis. The chemotype-prediction rules with

  14. PKMiner: a database for exploring type II polyketide synthases.

    Science.gov (United States)

    Kim, Jinki; Yi, Gwan-Su

    2012-08-08

    Bacterial aromatic polyketides are a pharmacologically important group of natural products synthesized by type II polyketide synthases (type II PKSs) in actinobacteria. Isolation of novel aromatic polyketides from microbial sources is currently impeded because of the lack of knowledge about prolific taxa for polyketide synthesis and the difficulties in finding and optimizing target microorganisms. Comprehensive analysis of type II PKSs and the prediction of possible polyketide chemotypes in various actinobacterial genomes will thus enable the discovery or synthesis of novel polyketides in the most plausible microorganisms. We performed a comprehensive computational analysis of type II PKSs and their gene clusters in actinobacterial genomes. By identifying type II PKS subclasses from the sequence analysis of 280 known type II PKSs, we developed highly accurate domain classifiers for these subclasses and derived prediction rules for aromatic polyketide chemotypes generated by different combinations of type II PKS domains. Using 319 available actinobacterial genomes, we predicted 231 type II PKSs from 40 PKS gene clusters in 25 actinobacterial genomes, and polyketide chemotypes corresponding to 22 novel PKS gene clusters in 16 genomes. These results showed that the microorganisms capable of producing aromatic polyketides are specifically distributed within a certain suborder of Actinomycetales such as Catenulisporineae, Frankineae, Micrococcineae, Micromonosporineae, Pseudonocardineae, Streptomycineae, and Streptosporangineae. We could identify the novel candidates of type II PKS gene clusters and their polyketide chemotypes in actinobacterial genomes by comprehensive analysis of type II PKSs and prediction of aromatic polyketides. The genome analysis results indicated that the specific suborders in actinomycetes could be used as prolific taxa for polyketide synthesis. The chemotype-prediction rules with the suggested type II PKS modules derived using this resource

  15. Significance of type II fiber atrophy in chronic alcoholic myopathy.

    Science.gov (United States)

    Fernández-Solá, J; Sacanella, E; Estruch, R; Nicolás, J M; Grau, J M; Urbano-Márquez, A

    1995-05-01

    To determine the significance of type II fiber atrophy in alcoholic myopathy and its relationship with ethanol-related diseases a prospective study was carried out in 100 chronic alcoholics who showed clinical suspicion of skeletal myopathy. Measurement of muscle strength, laboratory analysis, nutritional assessment and open biopsy of deltoid muscle were performed in each case, as well as electrophysiological testing for peripheral neuropathy. Hepatic ultrasonography and liver biopsy, echocardiography and radionuclide cardiac scanning were carried out in selected subjects. According to histomorphometric analysis, type II fiber atrophy was found in 33 cases (33%), being selective for type II B fiber in 23 (70%). Skeletal myopathy was diagnosed in 61 cases, alcoholic cardiomyopathy in 26, peripheral neuropathy in 23 and cirrhosis in 12. Patients with type II fiber atrophy had a significantly higher total lifetime dose of ethanol, presented a greater incidence of skeletal myopathy and peripheral neuropathy, and exhibited significantly lower values of percentage of ideal body weight and lean body mass than their counterparts. However, the only independent factors for developing type II fiber atrophy were the coexistence of caloric malnutrition (p = 0.004) and the presence of skeletal myopathy (p = 0.043). Selective type II fiber atrophy is a non-specific finding in alcohol-induced muscle damage appearing, overall, in the patients with caloric malnutrition as well as in those with histologic evidence of myopathy.

  16. Anomalous Nernst effect in type-II Weyl semimetals

    Science.gov (United States)

    Saha, Subhodip; Tewari, Sumanta

    2018-01-01

    Topological Weyl semimetals (WSM), a new state of quantum matter with gapless nodal bulk spectrum and open Fermi arc surface states, have recently sparked enormous interest in condensed matter physics. Based on the symmetry and fermiology, it has been proposed that WSMs can be broadly classified into two types, type-I and type-II Weyl semimetals. While the undoped, conventional, type-I WSMs have point like Fermi surface and vanishing density of states (DOS) at the Fermi energy, the type-II Weyl semimetals break Lorentz symmetry explicitly and have tilted conical spectra with electron and hole pockets producing finite DOS at the Fermi level. The tilted conical spectrum and finite DOS at Fermi level in type-II WSMs have recently been shown to produce interesting effects such as a chiral anomaly induced longitudinal magnetoresistance that is strongly anisotropic in direction and a novel anomalous Hall effect. In this work, we consider the anomalous Nernst effect in type-II WSMs in the absence of an external magnetic field using the framework of semi-classical Boltzmann theory. Based on both a linearized model of time-reversal breaking WSM with a higher energy cut-off and a more realistic lattice model, we show that the anomalous Nernst response in these systems is strongly anisotropic in space, and can serve as a reliable signature of type-II Weyl semimetals in a host of magnetic systems with spontaneously broken time reversal symmetry.

  17. Kenny-Caffey syndrome type 1 in an Egyptian girl

    Directory of Open Access Journals (Sweden)

    Kotb Abbass Metwalley

    2012-01-01

    Full Text Available Kenny-Caffey syndrome type 1 (KCS1 (OMIM 244460 is a rare syndrome characterized by growth retardation, uniformly small slender long bones with medullary stenosis, thickened cortex of the long bones, hypocalcemia possibly with tetany at an early age and normal intelligence. The primary outcome of KCS1 is short stature. We present here an Egyptian girl aged 32 months with typical feature of KCS1.

  18. Metabolic syndrome in newly diagnosed type 2 diabetes mellitus ...

    African Journals Online (AJOL)

    Background and Objectives: Type 2 diabetes is becoming epidemic and several studies have shown that diabetes is associated with increased co.morbidities and impaired functional health in the general adult population. Type 2 diabetes is one of the co.morbidities associated with metabolic syndrome that carries with it ...

  19. [Apeced syndrome or autoimmune polyendocrine syndrome Type 1].

    Science.gov (United States)

    Proust-Lemoine, Emmanuelle; Wémeau, Jean-Louis

    2008-01-01

    Apeced syndrome is a rare disease, with autosomal recessive transmission and associated with mutations of the AIRE gene, which is involved in central and peripheral immune tolerance mechanisms. Its diagnosis is classically based on the combination of any two of the following three major criteria: chronic mucocutaneous candidiasis, hypoparathyroidism and autoimmune chronic adrenocortical insufficiency (Addison disease). One single criterion is sufficient to diagnosis a sibling of a patient already diagnosed. Because of its great phenotypic variability, some atypical or oligosymptomatic forms may not be recognized. In the presence of one of the three major criteria, it is thus important to look for other clinical manifestations--digestive, cutaneous (including keratinized appendages) and ophthalmological (until then considered minor). In these atypical forms, the diagnosis depends on molecular genetics. Prognosis is influenced by different factors that may be genetic (AIRE mutations, HLA), hormonal (sex) or environmental (infections). Potentially fatal disease (hepatitis or severe malabsorption) requires immunosuppressant therapy. Before beginning this aggressive treatment, underlying infectious foci, especially of candidiasis, must be sought and treated to prevent the development of extremely serious systemic infections in this context. A workup for splenic atrophy is also recommended.

  20. Downregulation of angiotensin II type 1 receptors during sepsis.

    Science.gov (United States)

    Bucher, M; Ittner, K P; Hobbhahn, J; Taeger, K; Kurtz, A

    2001-08-01

    Our study aimed to characterize the mechanisms underlying the attenuated cardiovascular responsiveness toward the renin-angiotensin system during sepsis. For this purpose, we determined the effects of experimental Gram-negative and Gram-positive sepsis in rats. We found that sepsis led to a ubiquitous upregulation of NO synthase isoform II expression and to pronounced hypotension. Despite increased plasma renin activity and plasma angiotensin (Ang) II levels, plasma aldosterone concentrations were normal, and the blood pressure response to exogenous Ang II was markedly diminished in septic rats. Mimicking the fall of blood pressure during sepsis by short-term infusion of the NO donor sodium nitroprusside in normal rats did not alter their blood pressure response to exogenous Ang II. Therefore, we considered the possibility of an altered expression of Ang II receptors during sepsis. It turned out that Ang II type 1 receptor expression was markedly downregulated in all organs of septic rats. Further in vitro studies with rat renal mesangial cells showed that NO and a combination of proinflammatory cytokines (interleukin-1beta, tumor necrosis factor-alpha, and interferon-gamma) downregulated Ang II type 1 receptor expression in a synergistic fashion. In summary, our data suggest that sepsis causes a systemic downregulation of Ang II type 1 receptors that is likely mediated by proinflammatory cytokines and NO. We suggest that this downregulation of Ang II type 1 receptors is the main reason for the attenuated responsiveness of blood pressure and of aldosterone formation to Ang II and, therefore, contributes to the characteristic septic shock.

  1. Associations Among the MCMI-II Clinical Syndrome Scales and the MMPI-2 Clinical Scales.

    Science.gov (United States)

    Blais, Mark A.; And Others

    1994-01-01

    The relationship among the nine clinical syndrome scales of the Millon Clinical Multiaxial Inventory-II (MCMI-II) and clinical scales of the Minnesota Multiphasic Personality Inventory-2 (MMPI-2) was studied with 108 psychiatric inpatients. Results indicate convergent validity of only the MCMI-II Axis I scales. (SLD)

  2. The effect of serum angiotensin II and angiotensin II type 1 receptor ...

    African Journals Online (AJOL)

    Ehab

    2012-06-18

    Jun 18, 2012 ... The effect of serum angiotensin II and angiotensin II type 1 receptor gene polymorphism on pediatric lupus nephritis. INTRODUCTION. Renin angiotensin system (RAS) has been considered one of the probable pathophysiologic mechanisms involved in SLE progression. However, the contribution of the ...

  3. Enhanced Materials Based on Submonolayer Type-II Quantum Dots

    Energy Technology Data Exchange (ETDEWEB)

    Tamargo, Maria C [City College of New York, NY (United States); Kuskovsky, Igor L. [City Univ. (CUNY), NY (United States) Queens College; Meriles, Carlos [City College of New York, NY (United States); Noyan, Ismail C. [Columbia Univ., New York, NY (United States)

    2017-04-15

    We have investigated a nanostructured material known as sub-monolayer type-II QDs, made from wide bandgap II-VI semiconductors. Our goal is to understand and exploit their tunable optical and electrical properties by taking advantage of the type-II band alignment and quantum confinement effects. Type-II ZnTe quantum dots (QDs) in a ZnSe host are particularly interesting because of their relatively large valence band and conduction band offsets. In the current award we have developed new materials based on sub-monolayer type-II QDs that may be advantageous for photovoltaic and spintronics applications. We have also expanded the structural characterization of these materials by refining the X-ray diffraction methodologies needed to investigate them. In particular, we have 1) demonstrated ZnCdTe/ZnCdSe type-II QDs materials that have ideal properties for the development of novel high efficiency “intermediate band solar cells”, 2) we developed a comprehensive approach to describe and model the growth of these ultra-small type-II QDs, 3) analysis of the evolution of the photoluminescence (PL) emission, combined with other characterization probes allowed us to predict the size and density of the QDs as a function of the growth conditions, 4) we developed and implemented novel sophisticated X-ray diffraction techniques from which accurate size and shape of the buried type-II QDs could be extracted, 5) a correlation of the shape anisotropy with polarization dependent PL was observed, confirming the QDs detailed shape and providing insight about the effects of this shape anisotropy on the physical properties of the type-II QD systems, and 6) a detailed “time-resolved Kerr rotation” investigation has led to the demonstration of enhanced electron spin lifetimes for the samples with large densities of type-II QDs and an understanding of the interplay between the QDs and Te-isoelectroic centers, a defect that forms in the spacer layers that separate the QDs.

  4. [Coexistence of autoimmune polyglandular syndrome type 3 with diabetes insipidus].

    Science.gov (United States)

    Krysiak, Robert; Okopień, Bogusław

    2015-01-01

    Autoimmune polyglandular syndromes are conditions characterized by the combination of two or more organ-specific disorders. The underestimation oftheir real frequency probable results from physicians' inadequate knowledge of these clinical entities and sometimes their atypical clinical presentation. Because they comprise a wide spectrum of autoimmune disorders, autoimmune polyglandular syndromes are divided into four types, among which type-3 is the most common one. In this article, we report the case of a young female, initially diagnosed with diabetes mellitus who several years later developed full-blown autoimmune polyglandular syndrome type 3 consisting of autoimmune thyroid disorder and latent autoimmune diabetes in adults.The discussed case suggests that in selected patients diabetes insipidus may coexist with autoimmune endocrinopathies and nonendocrine autoimmunopathies, as well as that in some patients idiopathic diabetes insipidus may be secondary to lymphocytic infiltration and destruction of the hypothalamic supraoptic and paraventricular nuclei and/or the supraoptic-hypophyseal tract

  5. Previously unreported abnormalities in Wolfram Syndrome Type 2.

    Science.gov (United States)

    Akturk, Halis Kaan; Yasa, Seda

    2017-01-01

    Wolfram syndrome (WFS) is a rare autosomal recessive disease with non-autoimmune childhood onset insulin dependent diabetes and optic atrophy. WFS type 2 (WFS2) differs from WFS type 1 (WFS1) with upper intestinal ulcers, bleeding tendency and the lack ofdiabetes insipidus. Li-fespan is short due to related comorbidities. Only a few familieshave been reported with this syndrome with the CISD2 mutation. Here we report two siblings with a clinical diagnosis of WFS2, previously misdiagnosed with type 1 diabetes mellitus and diabetic retinopathy-related blindness. We report possible additional clinical and laboratory findings that have not been pre-viously reported, such as asymptomatic hypoparathyroidism, osteomalacia, growth hormone (GH) deficiency and hepatomegaly. Even though not a requirement for the diagnosis of WFS2 currently, our case series confirm hypogonadotropic hypogonadism to be also a feature of this syndrome, as reported before. © Polish Society for Pediatric Endocrinology and Diabetology.

  6. The Ehlers-Danlos syndromes, rare types.

    Science.gov (United States)

    Brady, Angela F; Demirdas, Serwet; Fournel-Gigleux, Sylvie; Ghali, Neeti; Giunta, Cecilia; Kapferer-Seebacher, Ines; Kosho, Tomoki; Mendoza-Londono, Roberto; Pope, Michael F; Rohrbach, Marianne; Van Damme, Tim; Vandersteen, Anthony; van Mourik, Caroline; Voermans, Nicol; Zschocke, Johannes; Malfait, Fransiska

    2017-03-01

    The Ehlers-Danlos syndromes comprise a clinically and genetically heterogeneous group of heritable connective tissue disorders, which are characterized by joint hypermobility, skin hyperextensibility, and tissue friability. In the Villefranche Nosology, six subtypes were recognized: The classical, hypermobile, vascular, kyphoscoliotic, arthrochalasis, and dermatosparaxis subtypes of EDS. Except for the hypermobile subtype, defects had been identified in fibrillar collagens or in collagen-modifying enzymes. Since 1997, a whole spectrum of novel, clinically overlapping, rare EDS-variants have been delineated and genetic defects have been identified in an array of other extracellular matrix genes. Advances in molecular testing have made it possible to now identify the causative mutation for many patients presenting these phenotypes. The aim of this literature review is to summarize the current knowledge on the rare EDS subtypes and highlight areas for future research. © 2017 Wiley Periodicals, Inc. © 2017 Wiley Periodicals, Inc.

  7. Towards Optimal Diagnosis of Type II Germ Cell Tumors

    NARCIS (Netherlands)

    J.A. Stoop (Hans)

    2011-01-01

    textabstractThe aim of the work described in this thesis is to improve the understanding of the pathobiology of testicular cancer (type II Germ Cell Tumors) to create possibilities for optimalization of diagnosis for this type of malignancy in routine pathology laboratories. The different studies

  8. Aldosterone synthase C-344T, angiotensin II type 1 receptor ...

    Indian Academy of Sciences (India)

    This study was undertaken to investigate the association of aldosterone synthase C-344T, angiotensin II type I receptor A1166C and 11- hydroxysteroid dehydrogenase type 2 G534A polymorphisms with essential hypertension in the population of Odisha, India. A total of 246 hypertensive subjects (males, 159; females, ...

  9. Cardiorenal Syndrome Type 1: Definition, Etiopathogenesis, Diagnostics and Treatment

    Directory of Open Access Journals (Sweden)

    Nikolic Tomislav

    2018-03-01

    Full Text Available Cardiorenal Syndrome Type 1 (CRS-1 is defined as an acute worsening of heart function leading to acute kidney injury and/or dysfunction. It is an important cause of hospitalization which affects the diagnosis as well as the prognosis and treatment of patients. The purpose of this paper is to analyze causes that lead to the development of cardiorenal syndrome type 1 and its clinical consequences, as well as to emphasize the clinical importance of its early detection. The clinical studies and professional papers dealing with etiopathogenesis, diagnosis and treatment of cardiorenal syndrome type 1, have been analyzed. The most important role in the occurrence of cardio renal syndrome type 1 is played by hemodynamic mechanisms, activation of neurohumoral systems, inflammation and imbalance between the production of reactive oxygen species (ROS and nitric oxide (NO. Diagnosis of cardiorenal syndrome type 1 involves biomarkers of acute renal injury among which the most important are: neutrophil gelatinaseassociated lipocalin (NGAL, cystatin C, kidney injury molecule 1 (KIM-1, liver-type fatty acid binding protein (L-FABP, IL-18 and the values of nitrogen compounds in serum. In addition to a pharmacological therapy, various modalities of extracorporeal ultrafiltration are applied in treatment of CRS-1, particularly if there is resistance to the use of diuretic therapy. As opposed to the experimental models, in clinical practice acute renal injury is often diagnosed late so that the measures taken do not give the expected results and the protective role shown in experimental conditions do not give the same results. For all these reasons, it is necessary to analyze the pathophysiology of renal impairment in cardiorenal syndrome as well as detect early indicators of kidney injury that could have clinical benefit and positive impact on reducing the cost of treatment.

  10. A Rare Cause of Pheochromocytoma; Neurofibromatosis Type 1-Noonan Syndrome

    Directory of Open Access Journals (Sweden)

    Mazhar Müslüm Tuna

    2014-09-01

    Full Text Available Neurofibromatosis (NF Type 1 (NF-1 is an autosomal dominant disease with a prevalence of about 1/3000. NF-1 is a neurocutaneous syndrome characterized by cafe au lait macules, neurofibroma, optic glioma, lisch nodules, and symptoms involving other systems. Noonan syndrome (NS is a clinically heterogeneous disorder predominantly characterized by dysmorphic facial features, congenital heart disease, proportionate post-natal short stature, neck abnormalities, and chest deformities. NF-NS is a very rare overlapping syndrome sharing many features of both syndromes. Coexistence of pheochromocytoma, which can be life-threatening if not treated properly, is also a very rare complication of this disorder. Here, we report a patient who was admitted with a mass in the right upper quadrant and was diagnosed with pheochromocytoma and NFNS. (The Me­di­cal Bul­le­tin of Ha­se­ki 2014; 52: 227-31

  11. Glutathione synthesis and homeostasis in isolated type II alveolar cells

    International Nuclear Information System (INIS)

    Saito, K.; Warshaw, J.B.; Prough, R.A.

    1986-01-01

    After isolation of Type II cells from neonatal rat lung, the glutathione (GSH) levels in these cells were greatly depressed. The total glutathione content could be increased 5-fold within 12-24 h by incubating the cells in media containing sulfur amino acids. Similarly, the activity of γ-glutamyltranspeptidase was low immediately after isolation, but was increased 2-fold during the first 24 h culture. Addition of either GSH or GSSG to the culture media increased the GSH content of Type II cells 2-2.5-fold. Buthionine sulfoximine and NaF prevented this replenishment of GSH during 24 h culture. When the rates of de novo synthesis of GSH and GSSG from 35 S-cysteine were measured, the amounts of newly formed GSH decreased to 80% in the presence of GSH or GSSG. This suggests that exogenous GSH/GSSG can be taken up by the Type II cells to replenish the intracellular pool of GSH. Methionine was not as effective as cysteine in the synthesis of GSH. These results suggest that GSH levels in the isolated Type II cell can be maintained by de novo synthesis or uptake of exogenous GSH. Most of the GSH synthesized from cysteine, however, was excreted into the media of the cultured cells indicative of a potential role for the type II cell in export of the non-protein thiol

  12. A Statistical Study of Interplanetary Type II Bursts: STEREO Observations

    Science.gov (United States)

    Krupar, V.; Eastwood, J. P.; Magdalenic, J.; Gopalswamy, N.; Kruparova, O.; Szabo, A.

    2017-12-01

    Coronal mass ejections (CMEs) are the primary cause of the most severe and disruptive space weather events such as solar energetic particle (SEP) events and geomagnetic storms at Earth. Interplanetary type II bursts are generated via the plasma emission mechanism by energetic electrons accelerated at CME-driven shock waves and hence identify CMEs that potentially cause space weather impact. As CMEs propagate outward from the Sun, radio emissions are generated at progressively at lower frequencies corresponding to a decreasing ambient solar wind plasma density. We have performed a statistical study of 153 interplanetary type II bursts observed by the two STEREO spacecraft between March 2008 and August 2014. These events have been correlated with manually-identified CMEs contained in the Heliospheric Cataloguing, Analysis and Techniques Service (HELCATS) catalogue. Our results confirm that faster CMEs are more likely to produce interplanetary type II radio bursts. We have compared observed frequency drifts with white-light observations to estimate angular deviations of type II burst propagation directions from radial. We have found that interplanetary type II bursts preferably arise from CME flanks. Finally, we discuss a visibility of radio emissions in relation to the CME propagation direction.

  13. Progenitors of low-luminosity Type II-Plateau supernovae

    Science.gov (United States)

    Lisakov, Sergey M.; Dessart, Luc; Hillier, D. John; Waldman, Roni; Livne, Eli

    2018-01-01

    The progenitors of low-luminosity Type II-Plateau supernovae (SNe II-P) are believed to be red supergiant (RSG) stars, but there is much disparity in the literature concerning their mass at core collapse and therefore on the main sequence. Here, we model the SN radiation arising from the low-energy explosion of RSG stars of 12, 25 and 27 M⊙ on the main sequence and formed through single star evolution. Despite the narrow range in ejecta kinetic energy (2.5-4.2 × 1050 erg) in our model set, the SN observables from our three models are significantly distinct, reflecting the differences in progenitor structure (e.g. surface radius, H-rich envelope mass and He-core mass). Our higher mass RSG stars give rise to Type II SNe that tend to have bluer colours at early times, a shorter photospheric phase, and a faster declining V-band light curve (LC) more typical of Type II-linear SNe, in conflict with the LC plateau observed for low-luminosity SNe II. The complete fallback of the CO core in the low-energy explosions of our high-mass RSG stars prevents the ejection of any 56Ni (nor any core O or Si), in contrast to low-luminosity SNe II-P, which eject at least 0.001 M⊙ of 56Ni. In contrast to observations, Type II SN models from higher mass RSGs tend to show an H α absorption that remains broad at late times (due to a larger velocity at the base of the H-rich envelope). In agreement with the analyses of pre-explosion photometry, we conclude that low-luminosity SNe II-P likely arise from low-mass rather than high-mass RSG stars.

  14. Frequency of metabolic syndrome in patients with type-2 diabetes

    International Nuclear Information System (INIS)

    Ahmed, N.; Ahmad, T.; Hussain, S.J.; Javed, M.

    2010-01-01

    Background: Diabetes, Hypertension, Obesity and Ischaemic Heart Disease have become a problem of public health magnitude with substantial economic burden both in the developed as well as the developing countries. Obesity is quite frequent in Type 2 diabetics and also plays a central role in causing Metabolic Syndrome (MetS). Metabolic Syndrome significantly increases the incidence of cardiovascular complications. This study was done to determine the frequency of MetS in our Type 2 diabetic patients as most of the components of MetS can be modified and identifying/managing these at an early stage might be of considerable help in reducing cardiovascular complications. Methods: This cross-sectional study was done in Medical B and Medical A wards of Ayub Teaching Hospital, Abbottabad from Nov, 08 to April, 09. Type 2 Diabetic patients aged above 40 years who gave informed consent were included in the study. Data was collected through a structured proforma. Frequency of Metabolic Syndrome was estimated according to the IDF consensus worldwide definition of the MetS. Results: Of the 100 patients enrolled in this study 56 were females and 44 were males with a mean age of 59.9 years. Out of these 100 participants seventy six (76%) were diagnosed to have metabolic syndrome. Of the 56 females, forty eight (85.71%) were having metabolic syndrome while twenty eight (63.63%) of the 44 male participants were having the syndrome. The difference was statistically significant (p<0.05). Conclusion: Frequency of MetS was found to be significantly high in this study with female preponderance. All the components, except Hypertension were more frequent in females. Diabetic patients with metabolic syndrome need more aggressive approach in management so as to decrease the incidence of cardiovascular complications. (author)

  15. Luminescence dynamics in type-II GaAs/AlAs superlattices near the type-I to type-II crossover

    DEFF Research Database (Denmark)

    Langbein, Wolfgang Werner; Kalt, H.; Hvam, Jørn Märcher

    1996-01-01

    We report on a study of the time-resolved luminescence of type-II GaAs/AlAs superlattices near the type-I to type-II crossover. In spite of the slight type-II band alignment, the luminescence is dominated by the type-I transition. This is due to the inhomogeneous broadening of the type-I transition...... and the weak type-II oscillator strength, leading to a dominant luminescence of deeply localized type-I states. The relaxation within these localized states is found to be in agreement with a hopping model. At higher temperatures and excitation densities, the AlAs X minima act as an electron reservoir, leading...

  16. Cardiovascular profile in postural orthostatic tachycardia syndrome and Ehlers-Danlos syndrome type III.

    Science.gov (United States)

    Cheng, Jem L; Au, Jason S; Guzman, Juan C; Morillo, Carlos A; MacDonald, Maureen J

    2017-04-01

    The cardiovascular profile of postural orthostatic tachycardia syndrome + Ehlers-Danlos syndrome hypermobility type (POTS + EDSIII) has not been described, despite suggestions that it plays a role in orthostatic intolerance. We studied nine individuals diagnosed with POTS + EDSIII and found that the arterial stiffness and cardiac profiles of patients with POTS + EDSIII were comparable to those of age- and sex-matched controls, suggesting an alternate explanation for orthostatic intolerance.

  17. Type II see-saw dominance in SO(10)

    CERN Document Server

    Melfo, Alejandra; Senjanovic, Goran

    2010-01-01

    Grand unified theories where the neutrino mass is given by Type II seesaw have the potential to provide interesting connections between the neutrino and charged fermion sectors. We explore the possibility of having a dominant Type II seesaw contribution in supersymmetric SO(10). We show that this can be achieved in the model where symmetry breaking is triggered by 54 and 45-dimensional representations, without the need for additional fields other than those already required to have a realistic charged fermion mass spectrum. Physical consequences, such as the implementation of the BSV mechanism, the possibility of the fields responsible for Type II see-saw dominance being messengers of supersymmetry breaking, and the realization of baryo and leptogenesis in this theories are discussed.

  18. Autoimmune polyendocrine syndrome type 1 and NALP5, parathyroid autoantigen

    NARCIS (Netherlands)

    Alimohammadi, Mohammad; Bjorklund, Peyman; Hallgren, Asa; Pontynen, Nora; Szinnai, Gabor; Shikama, Noriko; Keller, Marcel P.; Ekwall, Olov; Kinkel, Sarah A.; Husebye, Eystein S.; Gustafsson, Jan; Rorsman, Fredrik; Peltonen, Leena; Betterle, Corrado; Perheentupa, Jaakko; Akerstrom, Goran; Westin, Gunnar; Scott, Hamish S.; Hollaender, Georg A.; Kampe, Olle

    2008-01-01

    Background: Autoimmune polyendocrine syndrome type 1 (APS-1) is a multiorgan autoimmune disorder caused by mutations in AIRE, the autoimmune regulator gene. Though recent studies concerning AIRE deficiency have begun to elucidate the molecular pathogenesis of organ-specific autoimmunity in patients

  19. Clinical Aspects of Type 3 Long-QT Syndrome

    DEFF Research Database (Denmark)

    Wilde, Arthur A M; Moss, Arthur J; Kaufman, Elizabeth S

    2016-01-01

    BACKGROUND: -Risk stratification in patients with type 3 long QT syndrome (LQT3) by clinical and genetic characteristics and effectiveness of ß-blocker therapy have not been studied previously in a large LQT3 population. METHODS: -The study population included 406 LQT3 patients with 51 different...

  20. [Complex regional pain syndrome type 1: negating the myth

    NARCIS (Netherlands)

    Frolke, J.P.M.; Dongen, R.T.M. van; Meent, H. van de

    2015-01-01

    Complex regional pain syndrome type 1 (CRPS-1) was identified in the Netherlands more than 30 years ago, but since then the arguments supporting this diagnosis have become weaker. Incidence has decreased, it is often not possible to make a definite diagnosis, the pathophysiology remains unclear and

  1. Milder phenotypes of glucose transporter type 1 deficiency syndrome

    NARCIS (Netherlands)

    Anand, G.; Padeniya, A.; Hanrahan, D.; Scheffer, H.; Zaiwalla, Z.; Cox, D.; Mann, N.; Hewertson, J.; Price, S.; Nemeth, A.; Arsov, T.; Scheffer, I.; Jayawant, S.; Pike, M.; McShane, T.

    2011-01-01

    Glucose transporter type 1 deficiency syndrome (GLUT1DS) is a treatable condition resulting from impaired glucose transport into the brain. The classical presentation is with infantile-onset epilepsy and severe developmental delay. Non-classical phenotypes with movement disorders and early-onset

  2. SARS-CoV replicates in primary human alveolar type II cell cultures but not in type I-like cells

    Science.gov (United States)

    Mossel, Eric C.; Wang, Jieru; Jeffers, Scott; Edeen, Karen E.; Wang, Shuanglin; Cosgrove, Gregory P.; Funk, C. Joel; Manzer, Rizwan; Miura, Tanya A.; Pearson, Leonard D.; Holmes, Kathryn V.; Mason, Robert J.

    2008-01-01

    Severe acute respiratory syndrome (SARS) is a disease characterized by diffuse alveolar damage. We isolated alveolar type II cells and maintained them in a highly differentiated state. Type II cell cultures supported SARS-CoV replication as evidenced by RT-PCR detection of viral subgenomic RNA and an increase in virus titer. Virus titers were maximal by 24 hours and peaked at approximately 105 pfu/mL. Two cell types within the cultures were infected. One cell type was type II cells, which were positive for SP-A, SP-C, cytokeratin, a type II cell-specific monoclonal antibody, and Ep-CAM. The other cell type was composed of spindle-shaped cells that were positive for vimentin and collagen III and likely fibroblasts. Viral replication was not detected in type I-like cells or macrophages. Hence, differentiated adult human alveolar type II cells were infectible but alveolar type I-like cells and alveolar macrophages did not support productive infection. PMID:18022664

  3. Oro-facial-digital syndrome Type 1: A case report

    Directory of Open Access Journals (Sweden)

    Kanika Singh Dhull

    2014-01-01

    Full Text Available Oro-Facial Digital Syndrome (OFDS is a generic term for group of apparently distinctive genetic diseases that affect the development of the oral cavity, facial features, and digits. One of these is OFDS type I (OFDS-I which has rarely been reported in Asian countries. This is the case report of a 13 year old patient with OFDS type I who reported to the Department of Pedodontics and Preventive Dentistry, with the complaint of discolored upper front teeth.

  4. Kindler syndrome - a rare type of hereditary epidermolysis bullosa

    Directory of Open Access Journals (Sweden)

    V. I. Albanova

    2015-01-01

    Full Text Available The Kindler syndrome is one of the types of hereditary epidermolysis bullosa with its onset related to mutations of the KIND1 gene. The authors describe a case of a family with three members suffering from this rare disease. All of these patients have typical clinical manifestations of the Kindler syndrome such as the formation of blisters on the skin and mucous membranes right after the birth, scarring with the formation of contractures, pseudosyndactyly, microstomia and ankyloglossia, progressive poikiloderma, photosensibility, affections of the gastrointestinal tract - dysphagia, esophagostenosis, stool disorders, dental pathology, phimosis vaginalis in women.

  5. Mutation and biochemical analysis in carnitine palmitoyltransferase type II (CPT II) deficiency

    DEFF Research Database (Denmark)

    Olpin, S E; Afifi, A; Clark, S

    2003-01-01

    Carnitine palmitoyltransferase type II (CPT II) deficiency has three basic phenotypes, late-onset muscular (mild), infantile/juvenile hepatic (intermediate) and severe neonatal. We have measured fatty acid oxidation and CPT II activity and performed mutation studies in 24 symptomatic patients...... representing the full clinical spectrum of disease. Severe and intermediate phenotypes show a clear correlation with biochemical indices and genetic analysis revealed causative mutations in most patients. Studies of mild phenotypes suggest a more complex interaction, with higher residual fatty acid oxidation...... of symptomatic patients appear to have significant residual CPT II activity (42-60%) The synergistic interaction of partial deficiencies of CPT II, muscle adenosine monophosphate deaminase and possibly other enzymes of muscle energy metabolism in the aetiology of episodic myopathy deserves wider consideration....

  6. MRI findings of type II sacral agenesis: A case report and literature review

    International Nuclear Information System (INIS)

    Lee, Sang A; Kim, Myung Soon; Kwon, Woo Cheol

    2016-01-01

    Sacral agenesis (or caudal regression syndrome) is a rare congenital anomaly involving various levels of coccygeal, sacral, and even lumbar or lower thoracic vertebral dysgenesis, as well as spinal cord abnormalities. A few cases have been previously reported in Korea, especially based upon MRI findings. We describe a case of a 4-year-old girl with partially bilateral agenesis of the sacrum (type II), and club-shaped (chisel-shaped) spinal cord disruption. We also review MRI findings of sacral agenesis, focused on classification and radiological findings

  7. MRI findings of type II sacral agenesis: A case report and literature review

    Energy Technology Data Exchange (ETDEWEB)

    Lee, Sang A; Kim, Myung Soon; Kwon, Woo Cheol [Dept. of Radiology, Yonsei University Wonju College of Medicine, Wonju Severance Christian Hospital, Wonju (Korea, Republic of)

    2016-07-15

    Sacral agenesis (or caudal regression syndrome) is a rare congenital anomaly involving various levels of coccygeal, sacral, and even lumbar or lower thoracic vertebral dysgenesis, as well as spinal cord abnormalities. A few cases have been previously reported in Korea, especially based upon MRI findings. We describe a case of a 4-year-old girl with partially bilateral agenesis of the sacrum (type II), and club-shaped (chisel-shaped) spinal cord disruption. We also review MRI findings of sacral agenesis, focused on classification and radiological findings.

  8. Syndromes, Disorders and Maternal Risk Factors Associated with Neural Tube Defects (II

    Directory of Open Access Journals (Sweden)

    Chih-Ping Chen

    2008-03-01

    Full Text Available Fetuses with neural tube defects (NTDs maybe associated with syndromes, disorders, and maternal risk factors. This article provides a comprehensive review of syndromes, disorders, and maternal risk factors associated with NTDs, such as Currarino syndrome, sacral defect with anterior meningocele, Jarcho-Levin syndrome (spondylo-costal dysostosis, lateral meningocele syndrome, neurofibromatosis type I, Marfan syndrome, and hyperthermia. The recurrence risk and the preventive effect of maternal folic acid intake in NTDs associated with syndromes, disorders, and maternal risk factors may be different from those of non-syndromic multifactorial NTDs. Perinatal identification of NTDs should alert one to the syndromes, disorders, and maternal risk factors associated with NTDs, and prompt a thorough etiologic investigation and genetic counseling.

  9. Can optical afterglows be used to discriminate between Type I and Type II GRBs?

    OpenAIRE

    Kann, D. A.

    2008-01-01

    The precise localization of short/hard (Type I) gamma-ray bursts (GRBs) in recent years has answered many questions but raised even more. I present some results of a systematic study of the optical afterglows of long/soft (Type II) and short/hard (Type I) GRBs, focusing on the optical luminosity as another puzzle piece in the classification of GRBs.

  10. Type I vs type II spiral ganglion neurons exhibit differential survival and neuritogenesis during cochlear development

    Directory of Open Access Journals (Sweden)

    Housley Gary D

    2011-10-01

    Full Text Available Abstract Background The mechanisms that consolidate neural circuitry are a major focus of neuroscience. In the mammalian cochlea, the refinement of spiral ganglion neuron (SGN innervation to the inner hair cells (by type I SGNs and the outer hair cells (by type II SGNs is accompanied by a 25% loss of SGNs. Results We investigated the segregation of neuronal loss in the mouse cochlea using β-tubulin and peripherin antisera to immunolabel all SGNs and selectively type II SGNs, respectively, and discovered that it is the type II SGN population that is predominately lost within the first postnatal week. Developmental neuronal loss has been attributed to the decline in neurotrophin expression by the target hair cells during this period, so we next examined survival of SGN sub-populations using tissue culture of the mid apex-mid turn region of neonatal mouse cochleae. In organotypic culture for 48 hours from postnatal day 1, endogenous trophic support from the organ of Corti proved sufficient to maintain all type II SGNs; however, a large proportion of type I SGNs were lost. Culture of the spiral ganglion as an explant, with removal of the organ of Corti, led to loss of the majority of both SGN sub-types. Brain-derived neurotrophic factor (BDNF added as a supplement to the media rescued a significant proportion of the SGNs, particularly the type II SGNs, which also showed increased neuritogenesis. The known decline in BDNF production by the rodent sensory epithelium after birth is therefore a likely mediator of type II neuron apoptosis. Conclusion Our study thus indicates that BDNF supply from the organ of Corti supports consolidation of type II innervation in the neonatal mouse cochlea. In contrast, type I SGNs likely rely on additional sources for trophic support.

  11. Towards Optimal Diagnosis of Type II Germ Cell Tumors

    OpenAIRE

    Stoop, Hans

    2011-01-01

    textabstractThe aim of the work described in this thesis is to improve the understanding of the pathobiology of testicular cancer (type II Germ Cell Tumors) to create possibilities for optimalization of diagnosis for this type of malignancy in routine pathology laboratories. The different studies presented here show valuable additional information on the microscopic diagnostics in daily practice. This enables proper and complete diagnosis of this relative rare variant of cancer ensuring the b...

  12. Perinatal lethal type II osteogenesis imperfecta: a case report | Ayadi ...

    African Journals Online (AJOL)

    We report a new case of osteogenesis imperfecta (OI) type II which is a perinatal lethal form. First trimester ultrasound didn't identified abnormalities. Second trimester ultrasound showed incurved limbs, narrow chest, with hypomineralization and multiple fractures of ribs and long bones. Parents refused pregnancy ...

  13. A Mobitz type II atrioventricular block in multicentric ischemic stroke ...

    African Journals Online (AJOL)

    Cardiac and cerebrovascular illnesses are major causes of mortality and morbidity. Thromboembolisms, which are the result of cardiac arrhythmia, are important causes of ischemic stroke. In this study, we present a rare case of multicentric ischemic stroke induced by Mobitz type II atrioventricular block. The Pan African ...

  14. Acute type II cryoglobulinaemic vasculitis mimicking atherosclerotic peripheral vascular disease.

    LENUS (Irish Health Repository)

    Saeed, A

    2012-01-31

    Atherosclerotic peripheral vascular disease is a common presenting cause for digital ischaemia in life long smokers. Acute severe Type II Cryoglobulinaemic vasculitis is a rare yet important cause, which may present with similar clinical features and which if undiagnosed may be rapidly fatal. Following the instigation of therapy with intravenous methylprednisolone and cyclophosphamide this patient made an excellent recovery.

  15. Aldosterone synthase C-344T, angiotensin II type 1 receptor ...

    Indian Academy of Sciences (India)

    2014-12-26

    Dec 26, 2014 ... RESEARCH ARTICLE. Aldosterone synthase C-344T, angiotensin II type 1 receptor A1166C and 11-β hydroxysteroid dehydrogenase G534A gene polymorphisms and essential hypertension in the population of Odisha, India. MANISHA PATNAIK1,5, PALLABI PATI1, SURENDRA N. SWAIN2, MANOJ K.

  16. Bianchi Type-II inflationary models with constant deceleration ...

    Indian Academy of Sciences (India)

    Einstein's field equations are considered for a locally rotationally symmetric Bianchi Type-II space–time in the presence of a massless scalar field with a scalar potential. Exact solutions of scale factors and other physical parameters are obtained by using a special law of variation for Hubble's parameter that yields a constant ...

  17. Conversion of DNA gyrase into a conventional type II topoisomerase

    DEFF Research Database (Denmark)

    Kampranis, S C; Maxwell, A

    1996-01-01

    -dependent manner. Novobiocin, a competitive inhibitor of ATP binding by gyrase, inhibits this reaction. The truncated enzyme, unlike gyrase, does not introduce a right-handed wrap when bound to DNA and stabilizes DNA crossovers; characteristics reminiscent of conventional type II topoisomerases. This new enzyme...

  18. Genetics Home Reference: lattice corneal dystrophy type II

    Science.gov (United States)

    ... network of protein filaments that gives structure to cells (the cytoskeleton). Mutations that cause lattice corneal dystrophy type II change a single protein building block (amino acid) in the gelsolin protein. ... from the cell. These protein fragments clump together and form amyloid ...

  19. Cardiovascular risk markers in type II diabetes and hypertension at ...

    African Journals Online (AJOL)

    Sly

    1. Cardiovascular risk markers in type II diabetes and hypertension at the Battor. Catholic Hospital, Volta Region of Ghana. WILLIAM K.B.A. OWIREDU1,3* .... Table 1: General socio-demographic characteristics of respondents by disease status. Variable. Total, n (%) Control, n (%). Case, n (%). P-value. Sex. Female.

  20. Genetics Home Reference: hereditary sensory and autonomic neuropathy type II

    Science.gov (United States)

    ... is found in the cells of the nervous system, including sensory neurons. The mutations involved in HSAN2A result in ... Samuels M, Rouleau GA. Mutations in the nervous system--specific HSN2 exon of WNK1 cause hereditary sensory neuropathy type II. J Clin Invest. 2008 Jul; ...

  1. Knowledge Is Power: Teaching Children about Type II Diabetes

    Science.gov (United States)

    Feild-Berner, Natalie; Balgopal, Meena

    2011-01-01

    World Diabetes Day (November 14) offers a wonderful opportunity to educate elementary children about the power they have to control their health. First lady Michelle Obama has urged Americans to educate themselves about childhood obesity, which is often associated with the onset of type II diabetes (Rabin 2010). The authors developed activities to…

  2. Hypertension In Type II Diabetes Mellitus In Jos University Teaching ...

    African Journals Online (AJOL)

    Methods: A cross-sectional study of hypertension in type II diabetic patients in Jos University Teaching Hospital, Jos, Nigeria Results: Forty-two of the patients were hypertensive with only 28 (32.9%) previously diagnosed and were on treatment. Age of patient, duration of diabetes and diabetic retinopathy were significantly ...

  3. Left Ventricular Geometry In Nigerians With Type II Diabetes Mellitus ...

    African Journals Online (AJOL)

    Background: Left ventricular hypertrophy is independently associated with increased incidence of cardiovascular disease, cardiovascular and all cause mortality. In a relatively healthy hypertensive adult population, type II diabetes is associated with higher left ventricular mass, concentric left ventricular geometry and lower ...

  4. Evidence for topological type-II Weyl semimetal WTe2

    KAUST Repository

    Li, Peng

    2017-12-11

    Recently, a type-II Weyl fermion was theoretically predicted to appear at the contact of electron and hole Fermi surface pockets. A distinguishing feature of the surfaces of type-II Weyl semimetals is the existence of topological surface states, so-called Fermi arcs. Although WTe2 was the first material suggested as a type-II Weyl semimetal, the direct observation of its tilting Weyl cone and Fermi arc has not yet been successful. Here, we show strong evidence that WTe2 is a type-II Weyl semimetal by observing two unique transport properties simultaneously in one WTe2 nanoribbon. The negative magnetoresistance induced by a chiral anomaly is quite anisotropic in WTe2 nanoribbons, which is present in b-axis ribbon, but is absent in a-axis ribbon. An extra-quantum oscillation, arising from a Weyl orbit formed by the Fermi arc and bulk Landau levels, displays a two dimensional feature and decays as the thickness increases in WTe2 nanoribbon.

  5. Bianchi Type-II inflationary models with constant deceleration ...

    Indian Academy of Sciences (India)

    pp. 707–720. Bianchi Type-II inflationary models with constant deceleration parameter in general relativity. C P SINGH* and S KUMAR. Department of Applied Mathematics, Delhi College of Engineering, Bawana Road,. Delhi 110 042, India. E-mail: cpsphd@rediffmail.com. MS received 24 January 2006; revised 19 January ...

  6. Cardiovascular risk markers in type II diabetes and hypertension at ...

    African Journals Online (AJOL)

    Sly

    Keywords: Type II diabetes, hypertension, Cardiovascular disease, Cardiovascular risk score, Inflammation, ... matched healthy individuals in the study area without a history of diabetes, hypertension or any ... sex, educational background, period of work, dietary salt, sugar, fat as well as alcohol consumption, physical.

  7. Enzymatic Breakdown of Type II Collagen in the Human Vitreous

    NARCIS (Netherlands)

    van Deemter, Marielle; Pas, Hendri H.; Kuijer, Roel; van der Worp, Roelofje J.; Hooymans, Johanna M. M.; Los, Leonoor I.

    2009-01-01

    PURPOSE. To investigate whether enzymatic collagen breakdown is an active process in the human vitreous. METHODS. Human donor eyes were used for immunohistochemistry to detect the possible presence of the matrix metalloproteinase (MMP)-induced type II collagen breakdown product col2-3/4C-short in

  8. Type II restriction endonucleases--a historical perspective and more.

    Science.gov (United States)

    Pingoud, Alfred; Wilson, Geoffrey G; Wende, Wolfgang

    2014-07-01

    This article continues the series of Surveys and Summaries on restriction endonucleases (REases) begun this year in Nucleic Acids Research. Here we discuss 'Type II' REases, the kind used for DNA analysis and cloning. We focus on their biochemistry: what they are, what they do, and how they do it. Type II REases are produced by prokaryotes to combat bacteriophages. With extreme accuracy, each recognizes a particular sequence in double-stranded DNA and cleaves at a fixed position within or nearby. The discoveries of these enzymes in the 1970s, and of the uses to which they could be put, have since impacted every corner of the life sciences. They became the enabling tools of molecular biology, genetics and biotechnology, and made analysis at the most fundamental levels routine. Hundreds of different REases have been discovered and are available commercially. Their genes have been cloned, sequenced and overexpressed. Most have been characterized to some extent, but few have been studied in depth. Here, we describe the original discoveries in this field, and the properties of the first Type II REases investigated. We discuss the mechanisms of sequence recognition and catalysis, and the varied oligomeric modes in which Type II REases act. We describe the surprising heterogeneity revealed by comparisons of their sequences and structures. © The Author(s) 2014. Published by Oxford University Press on behalf of Nucleic Acids Research.

  9. Ambitwistor pure spinor string in a type II supergravity background

    Energy Technology Data Exchange (ETDEWEB)

    Chandia, Osvaldo [Departamento de Ciencias, Facultad de Artes Liberales, Universidad Adolfo Ibáñez,Facultad de Ingeniería y Ciencias, Universidad Adolfo Ibáñez,Diagonal Las Torres 2640, Peñalolén, Santiago (Chile); Vallilo, Brenno Carlini [Departamento de Ciencias Físicas, Facultad de Ciencias Exactas, Universidad Andres Bello,República 220, Santiago (Chile)

    2015-06-30

    We construct the ambitwistor pure spinor string in a general type II supergravity background in the semi-classical regime. Almost all supergravity constraints are obtained from nilpotency of the BRST charge and further consistency conditions from additional world-sheet the case of AdS{sub 5}×S{sup 5} background.

  10. [Reflex dystrophy. Complex regional pain syndrome type I].

    Science.gov (United States)

    Petersen, Gry Kambskard; Jensen, Michael Reinhold; Dahlin, Lars B; Nielsen, Niels H Søe

    2002-10-21

    Reflex sympathetic dystrophy or complex regional pain syndrome type I is primarily a clinical diagnosis. The syndrome is most common after soft tissue damage or fractures and is more often seen in women than in men. The paramount symptom is pain, but oedema, a limited range of motion, changes in sensibility, and trophic changes are also seen. The pathogenesis is unknown, but most clinicians believe it to be caused by disturbances in the sympathetic or sensory nervous system and/or an excessive inflammatory response, most likely neurogenic inflammation. It seems that early treatment with physiotherapy and corticosteroids has a positive effect on the disease. Despite lack of documentation, the principles of treatment usually prescribed for the treatment of neurogenic pain must be taken into consideration. There is a lack of large double-blind studies on all aspects of the syndrome.

  11. Comparison of candidate serologic markers for type I and type II ovarian cancer

    DEFF Research Database (Denmark)

    Lu, Dan; Kuhn, Elisabetta; Bristow, Robert E

    2011-01-01

    To examine the value of individual and combinations of ovarian cancer associated blood biomarkers for the discrimination between plasma of patients with type I or II ovarian cancer and disease-free volunteers....

  12. Exercise beliefs and behaviours of individuals with Joint Hypermobility syndrome/Ehlers-Danlos syndrome - hypermobility type.

    Science.gov (United States)

    Simmonds, Jane V; Herbland, Anthony; Hakim, Alan; Ninis, Nelly; Lever, William; Aziz, Qasim; Cairns, Mindy

    2017-11-10

    To explore exercise beliefs and behaviours of individuals with Joint Hypermobility syndrome/Ehlers-Danlos syndrome - hypermobility type and to explore patient experiences of physiotherapy. A cross sectional questionnaire survey design was used to collect quantitative and qualitative data from adult members of the Hypermobility Syndromes Association and Ehlers-Danlos Syndrome Support UK. Descriptive and inferential statistics were used to analyse the data. Qualitative data was analysed thematically. 946 questionnaires were returned and analysed. Participants who received exercise advice from a physiotherapist were 1.75 more likely to report high volumes of weekly exercise (odds ratio [OR] = 1.75, 95% confidence interval [CI] = 1.30-2.36, p < 0.001) than those with no advice. Participants who believed that exercise is important for long-term management were 2.76 times more likely to report a high volume of weekly exercise compared to the participants who did not hold this belief (OR = 2.76, 95% CI = 1.38-5.50, p = 0.004). Three themes emerged regarding experience of physiotherapy; physiotherapist as a partner, communication - knowledge, experience and safety. Pain, fatigue and fear are common barriers to exercise. Advice from a physiotherapist and beliefs about the benefits of exercise influenced the reported exercise behaviours of individuals with Ehlers-Danlos syndrome - hypermobility type in this survey. Implications for rehabilitation Exercise is a cornerstone of treatment for Ehlers-Danlos syndrome/Ehlers-Danlos syndrome - hypermobility type. Pain, fatigue and fear of injury are frequently reported barriers to exercise. Advice from physiotherapists may significantly influence exercise behaviour. Physiotherapists with condition specific knowledge and good verbal and non-verbal communication facilitate a positive therapeutic experience.

  13. Effects of type II thyroplasty on adductor spasmodic dysphonia.

    Science.gov (United States)

    Sanuki, Tetsuji; Yumoto, Eiji; Minoda, Ryosei; Kodama, Narihiro

    2010-04-01

    Type II thyroplasty, or laryngeal framework surgery, is based on the hypothesis that the effect of adductor spasmodic dysphonia (AdSD) on the voice is due to excessively tight closure of the glottis, hampering phonation. Most of the previous, partially effective treatments have aimed to relieve this tight closure, including recurrent laryngeal nerve section or avulsion, extirpation of the adductor muscle, and botulinum toxin injection, which is currently the most popular. The aim of this study was to assess the effects of type II thyroplasty on aerodynamic and acoustic findings in patients with AdSD. Case series. University hospital. Ten patients with AdSD underwent type II thyroplasty between August 2006 and December 2008. Aerodynamic and acoustic analyses were performed prior to and six months after surgery. Mean flow rates (MFRs) and voice efficiency were evaluated with a phonation analyzer. Jitter, shimmer, the harmonics-to-noise ratio (HNR), standard deviation of the fundamental frequency (SDF0), and degree of voice breaks (DVB) were measured from each subject's longest sustained phonation sample of the vowel /a/. Voice efficiency improved significantly after surgery. No significant difference was found in the MFRs between before and after surgery. Jitter, shimmer, HNR, SDF0, and DVB improved significantly after surgery. Treatment of AdSD with type II thyroplasty significantly improved aerodynamic and acoustic findings. The results of this study suggest that type II thyroplasty provides relief from voice strangulation in patients with AdSD. Copyright 2010 American Academy of Otolaryngology-Head and Neck Surgery Foundation. Published by Mosby, Inc. All rights reserved.

  14. Repopulation of denuded tracheal grafts with alveolar type II cells

    International Nuclear Information System (INIS)

    Johnson, N.F.

    1988-01-01

    Repopulation of denuded heterotopic tracheal grafts with populations of specific epithelial cell types is one approach to study the differentiation potential of various cell types. This technique has been adopted to delineate the differentiation pathways of alveolar type II cells isolated from rat lungs. Under the conditions of this experiment, the reestablished epithelial lining was alveolar-like, however, ultrastructural analysis of the cells showed them to be like Clara cells. These preliminary results suggest that the secretary cells of the lung parenchyma and terminal airways may share a common ancestry. (author)

  15. Intrafibrillar Mineral May be Absent in Dentinogenesis Imperfecta Type II (DI-II)

    Energy Technology Data Exchange (ETDEWEB)

    Pople, John A

    2001-03-29

    High-resolution synchrotron radiation computed tomography (SRCT) and small angle x-ray scattering (SAXS) were performed on normal and dentinogenesis imperfecta type II (DI-II) teeth. Three normal and three DI-II human third molars were used in this study. The normal molars were unerupted and had intact enamel; donors were female and ranged in age from 18-21y. The DI-II specimens, which were also unerupted with intact enamel, came from a single female donor age 20y. SRCT showed that the mineral concentration was 33% lower on average in the DI-II dentin with respect to normal dentin. The SAXS spectra from normal dentin exhibited low-angle diffraction peaks at harmonics of 67.6 nm, consistent with nucleation and growth of the apatite phase within gaps in the collagen fibrils (intrafibrillar mineralization). In contrast, the low-angle peaks were almost nonexistent in the DI-II dentin. Crystallite thickness was independent of location in both DI-II and normal dentin, although the crystallites were significantly thicker in DI-II dentin (6.8 nm (s.d. = 0.5) vs 5.1 nm (s.d. = 0.6)). The shape factor of the crystallites, as determined by SAXS, showed a continuous progression in normal dentin from roughly one-dimensional (needle-like) near the pulp to two-dimensional (plate-like) near the dentin-enamel junction. The crystallites in DI-II dentin, on the other hand, remained needle-like throughout. The above observations are consistent with an absence of intrafibrillar mineral in DI-II dentin.

  16. Hybrid type I-type II superconducting behavior in magnesium diboride

    International Nuclear Information System (INIS)

    Kunchur, M.N.; Saracila, G.; Arcos, D.A.; Cui, Y.; Pogrebnyakov, A.; Orgiani, P.; Xi, X.X.

    2006-01-01

    In traditional type-II superconductors, an applied magnetic field depresses the transition temperature and introduces magnetic flux vortices that cause resistive losses accompanied by a broadening of the transition. High-field high-pulsed-current measurements have revealed a new hybrid behavior in disordered magnesium diboride films: The superconductivity survives high magnetic fields by entering a mixed state with vortices (like a type II superconductor) but holds its vortices nearly motionless and avoids dissipation (like a type I superconductor). A study of this phenomenon in magnesium diboride films with varying degrees of scattering indicate that the hybrid type I-type II behavior arises from the two-band nature of the superconductivity and the different degrees of influence that disorder exerts on its different bands. (author)

  17. General Hypochondriasis in Diabetes Mellitus Type-II (DM-II: Implications for Clinicians

    Directory of Open Access Journals (Sweden)

    Mohd. Fazil

    2013-01-01

    Full Text Available Background Relatively little is known about the epidemiology of hypochondriasis, especially in Diabetes Mellitus Type-II (DM-II patients, though hypochondriasis is considered to be of high relevance in the healthcare sector, especially in chronic diseases. The aims of this study were to study the prevalence of general hypochondriasis in DM-II patients and to explore some of the possible aggravating factors. Methods Thedatawascollectedbyinterviewandobservationmethodwith Illness Behaviour Questionnaire and Temperament Assessment Format. Results Hypochondriasiswasfoundtobemostprevalentinsubjectshaving Saudavi temperament (75.55% followed by those having Balghami temperament (56.81%. The patients having elevated blood sugar and those on injectable hypoglycemics also demonstrated a higher prevalence of hypochondriasis. Conclusion The results indicate that hypochondriasis is quite prevalent in DM-II patients; and, in addition to the severity of disease, it may also be influenced by the medication and patient’s temperament.

  18. Bartter Syndrome Type 1 Presenting as Nephrogenic Diabetes Insipidus

    Directory of Open Access Journals (Sweden)

    Gianluca Vergine

    2018-01-01

    Full Text Available Bartter syndrome (BS type 1 (OMIM #601678 is a hereditary salt-losing renal tubular disorder characterized by hypokalemic metabolic alkalosis, hypercalciuria, nephrocalcinosis, polyuria, recurrent vomiting, and growth retardation. It is caused by loss-of-function mutations of the SLC12A1 gene, encoding the furosemide-sensitive Na-K-Cl cotransporter. Recently, a phenotypic variability has been observed in patients with genetically determined BS, including absence of nephrocalcinosis, hypokalemia, and/or metabolic alkalosis in the first year of life as well as persistent metabolic acidosis mimicking distal renal tubular acidosis. We report the case of a child with a genetically determined diagnosis of Bartter syndrome type 1 who presented with a phenotype of nephrogenic diabetes insipidus, with severe hypernatremia and urinary concentrating defect. In these atypical cases, molecular analysis is mandatory to define the diagnosis, in order to establish the correct clinical and therapeutic management.

  19. Features that exacerbate fatigue severity in joint hypermobility syndrome/Ehlers-Danlos syndrome - hypermobility type.

    Science.gov (United States)

    Krahe, Anne Maree; Adams, Roger David; Nicholson, Leslie Lorenda

    2017-05-09

    To assess the prevalence, severity and impact of fatigue on individuals with joint hypermobility syndrome (JHS)/Ehlers-Danlos syndrome - hypermobility type (EDS-HT) and establish potential determinants of fatigue severity in this population. Questionnaires on symptoms and signs related to fatigue, quality of life, mental health, physical activity participation and sleep quality were completed by people with JHS/EDS-HT recruited through two social media sites. Multiple regression analysis was performed to identify predictors of fatigue in this population. Significant fatigue was reported by 79.5% of the 117 participants. Multiple regression analysis identified five predictors of fatigue severity, four being potentially modifiable, accounting for 52.3% of the variance in reported fatigue scores. Predictors of fatigue severity were: the self-perceived extent of joint hypermobility, orthostatic dizziness related to heat and exercise, levels of participation in personal relationships and community, current levels of physical activity and dissatisfaction with the diagnostic process and management options provided for their condition. Fatigue is a significant symptom associated with JHS/EDS-HT. Assessment of individuals with this condition should include measures of fatigue severity to enable targeted management of potentially modifiable factors associated with fatigue severity. Implications for rehabilitation Fatigue is a significant symptom reported by individuals affected by joint hypermobility syndrome/Ehlers-Danlos syndrome - hypermobility type. Potentially modifiable features that contribute to fatigue severity in this population have been identified. Targeted management of these features may decrease the severity and impact of fatigue in joint hypermobility syndrome/Ehlers-Danlos syndrome - hypermobility type.

  20. Type II restriction endonucleases—a historical perspective and more

    Science.gov (United States)

    Pingoud, Alfred; Wilson, Geoffrey G.; Wende, Wolfgang

    2014-01-01

    This article continues the series of Surveys and Summaries on restriction endonucleases (REases) begun this year in Nucleic Acids Research. Here we discuss ‘Type II’ REases, the kind used for DNA analysis and cloning. We focus on their biochemistry: what they are, what they do, and how they do it. Type II REases are produced by prokaryotes to combat bacteriophages. With extreme accuracy, each recognizes a particular sequence in double-stranded DNA and cleaves at a fixed position within or nearby. The discoveries of these enzymes in the 1970s, and of the uses to which they could be put, have since impacted every corner of the life sciences. They became the enabling tools of molecular biology, genetics and biotechnology, and made analysis at the most fundamental levels routine. Hundreds of different REases have been discovered and are available commercially. Their genes have been cloned, sequenced and overexpressed. Most have been characterized to some extent, but few have been studied in depth. Here, we describe the original discoveries in this field, and the properties of the first Type II REases investigated. We discuss the mechanisms of sequence recognition and catalysis, and the varied oligomeric modes in which Type II REases act. We describe the surprising heterogeneity revealed by comparisons of their sequences and structures. PMID:24878924

  1. Complex regional pain syndromes (CRPS) type 1 validating case histories

    OpenAIRE

    P. Berger

    2003-01-01

    The treatment of patients with complex regional pain syndrome (CRPS) type 1 is challenging and unpredictable as the condition presents with vascular and neuropathic symptoms after nil or even minor injury to a peripheral nerve. The condition is one of a pain and motor dysfunction. The pathophysiology is not well understood and the relief of symptoms may change from being sympathetically mediated to sympathetically independent during  the course of the disease. At any stage physiotherapy has b...

  2. Inhibition of Zn(II binding type IA topoisomerases by organomercury compounds and Hg(II.

    Directory of Open Access Journals (Sweden)

    Bokun Cheng

    Full Text Available Type IA topoisomerase activities are essential for resolving DNA topological barriers via an enzyme-mediated transient single strand DNA break. Accumulation of topoisomerase DNA cleavage product can lead to cell death or genomic rearrangement. Many antibacterial and anticancer drugs act as topoisomerase poison inhibitors that form stabilized ternary complexes with the topoisomerase covalent intermediate, so it is desirable to identify such inhibitors for type IA topoisomerases. Here we report that organomercury compounds were identified during a fluorescence based screening of the NIH diversity set of small molecules for topoisomerase inhibitors that can increase the DNA cleavage product of Yersinia pestis topoisomerase I. Inhibition of relaxation activity and accumulation of DNA cleavage product were confirmed for these organomercury compounds in gel based assays of Escherichia coli topoisomerase I. Hg(II, but not As(III, could also target the cysteines that form the multiple Zn(II binding tetra-cysteine motifs found in the C-terminal domains of these bacterial topoisomerase I for relaxation activity inhibition. Mycobacterium tuberculosis topoisomerase I activity is not sensitive to Hg(II or the organomercury compounds due to the absence of the Zn(II binding cysteines. It is significant that the type IA topoisomerases with Zn(II binding domains can still cleave DNA when interfered by Hg(II or organomercury compounds. The Zn(II binding domains found in human Top3α and Top3β may be potential targets of toxic metals and organometallic complexes, with potential consequence on genomic stability and development.

  3. Performance evaluation type II and type IIA box beam end terminals--volume II : appendices.

    Science.gov (United States)

    2010-01-10

    Two types of guide rail end terminals were constructed and evaluated according to the American Association of State Highway : and Transportation Officials (AASHTOs) Manual for Assessing Safety Hardware (MASH). The guide rail end terminals are u...

  4. Hypermobile Ehlers-Danlos syndrome (a.k.a. Ehlers-Danlos syndrome Type III and Ehlers-Danlos syndrome hypermobility type): Clinical description and natural history.

    Science.gov (United States)

    Tinkle, Brad; Castori, Marco; Berglund, Britta; Cohen, Helen; Grahame, Rodney; Kazkaz, Hanadi; Levy, Howard

    2017-03-01

    The hypermobile type of Ehlers-Danlos syndrome (hEDS) is likely the most common hereditary disorder of connective tissue. It has been described largely in those with musculoskeletal complaints including joint hypermobility, joint subluxations/dislocations, as well as skin and soft tissue manifestations. Many patients report activity-related pain and some go on to have daily pain. Two undifferentiated syndromes have been used to describe these manifestations-joint hypermobility syndrome and hEDS. Both are clinical diagnoses in the absence of other causation. Current medical literature further complicates differentiation and describes multiple associated symptoms and disorders. The current EDS nosology combines these two entities into the hypermobile type of EDS. Herein, we review and summarize the literature as a better clinical description of this type of connective tissue disorder. © 2017 Wiley Periodicals, Inc. © 2017 Wiley Periodicals, Inc.

  5. Ceramide content is higher in type I compared to type II fibers in obesity and type 2 diabetes mellitus

    DEFF Research Database (Denmark)

    Kristensen, Ditte Bech; Prats Gavalda, Clara; Larsen, Steen

    2012-01-01

    This study investigated fiber-type-specific muscle ceramide content in obese subjects and type 2 diabetes patients. Two substudies, one which compared type 2 diabetes patients to both lean- and obese BMI-matched subjects and the other study which compared lean body-matched post-obese, obese...... index was higher in lean compared to type 2 diabetes patients and obese controls. Also in control and post-obese subjects, a higher insulin sensitivity was observed compared to obese subjects. Ceramide content was consistently higher in type I than in type II muscle fibers and higher in deltoideus than...... vastus lateralis across all groups. No significant differences between groups were observed in ceramide content in either of the two substudies. In human skeletal muscle, ceramide content was higher in type I than in type II fibers in patients with type 2 diabetes and in obese subjects, but overall...

  6. Instability in the magnetic field penetration in type II superconductors

    Energy Technology Data Exchange (ETDEWEB)

    Oliveira, Isaías G. de, E-mail: isaias@ufrrj.br

    2015-07-17

    Under the view of the time-dependent Ginzburg–Landau theory we have investigated the penetration of the magnetic field in the type II superconductors. We show that the single vortices, situated along the borderline, between the normal region channel and the superconducting region, can escape to regions still empty of vortices. We show that the origin of this process is the repulsive nature of vortex–vortex interaction, in addition to the non-homogeneous distribution of the vortices along the normal region channel. Using London theory we explain the extra gain of kinetic energy by the vortices situated along this borderline. - Highlights: • TDGL is used to study the magnetic field penetration in type II superconductors. • Instability process is found during the magnetic field penetration. • Vortices along the front of the normal region escape to superconducting region. • We explain the extra-gain of kinetic energy by vortices along the borderline.

  7. Subclinical onychomycosis in patients with type II diabetes

    Directory of Open Access Journals (Sweden)

    Amira Elbendary

    2015-12-01

    Full Text Available Fungal organisms could be present in the nail without any clinical manifestations. As onychomycosis in diabetics has more serious complications, early detection of such infection could be helpful to prevent them. We aim in this study to assess the possibility of detecting subclinical onychomycosis in type II diabetic patients and addressing possible associated neuropathy. A cross sectional, observational study included patients with type II diabetes with normal big toe nail. All were subjected to nail clipping of the big toe nail, followed by staining with Hematoxylin and Eosin and Periodic-Acid-Schiff (PAS stains and examined microscopically. A total of 106 patients were included, fungal infection was identified in eight specimens, all were uncontrolled diabetes, and six had neuropathy. Using the nail clipping and microscopic examination with PAS stain to detect such subclinical infection could be an applicable screening test for diabetic patients, for early detection and management of onychomycosis.

  8. UBVRIz LIGHT CURVES OF 51 TYPE II SUPERNOVAE

    International Nuclear Information System (INIS)

    Galbany, Lluis; Hamuy, Mario; Jaeger, Thomas de; Moraga, Tania; González-Gaitán, Santiago; Gutiérrez, Claudia P.; Phillips, Mark M.; Morrell, Nidia I.; Thomas-Osip, Joanna; Suntzeff, Nicholas B.; Maza, José; González, Luis; Antezana, Roberto; Wishnjewski, Marina; Krisciunas, Kevin; Krzeminski, Wojtek; McCarthy, Patrick; Anderson, Joseph P.; Stritzinger, Maximilian; Folatelli, Gastón

    2016-01-01

    We present a compilation of UBVRIz light curves of 51 type II supernovae discovered during the course of four different surveys during 1986–2003: the Cerro Tololo Supernova Survey, the Calán/Tololo Supernova Program (C and T), the Supernova Optical and Infrared Survey (SOIRS), and the Carnegie Type II Supernova Survey (CATS). The photometry is based on template-subtracted images to eliminate any potential host galaxy light contamination, and calibrated from foreground stars. This work presents these photometric data, studies the color evolution using different bands, and explores the relation between the magnitude at maximum brightness and the brightness decline parameter (s) from maximum light through the end of the recombination phase. This parameter is found to be shallower for redder bands and appears to have the best correlation in the B band. In addition, it also correlates with the plateau duration, being shorter (longer) for larger (smaller) s values

  9. Unification of type-II strings and T duality.

    Science.gov (United States)

    Hohm, Olaf; Kwak, Seung Ki; Zwiebach, Barton

    2011-10-21

    We present a unified description of the low-energy limits of type-II string theories. This is achieved by a formulation that doubles the space-time coordinates in order to realize the T-duality group O(10,10) geometrically. The Ramond-Ramond fields are described by a spinor of O(10,10), which couples to the gravitational fields via the Spin(10,10) representative of the so-called generalized metric. This theory, which is supplemented by a T-duality covariant self-duality constraint, unifies the type-II theories in that each of them is obtained for a particular subspace of the doubled space. © 2011 American Physical Society

  10. UBVRIz LIGHT CURVES OF 51 TYPE II SUPERNOVAE

    Energy Technology Data Exchange (ETDEWEB)

    Galbany, Lluis; Hamuy, Mario; Jaeger, Thomas de; Moraga, Tania; González-Gaitán, Santiago; Gutiérrez, Claudia P. [Millennium Institute of Astrophysics, Universidad de Chile (Chile); Phillips, Mark M.; Morrell, Nidia I.; Thomas-Osip, Joanna [Carnegie Observatories, Las Campanas Observatory, Casilla 60, La Serena (Chile); Suntzeff, Nicholas B. [Department of Physics and Astronomy, Texas A and M University, College Station, TX 77843 (United States); Maza, José; González, Luis; Antezana, Roberto; Wishnjewski, Marina [Departamento de Astronomía, Universidad de Chile, Camino El Observatorio 1515, Las Condes, Santiago (Chile); Krisciunas, Kevin [George P. and Cynthia Woods Mitchell Institute for Fundamental Physics and Astronomy, Texas A. and M. University, Department of Physics and Astronomy, 4242 TAMU, College Station, TX 77843 (United States); Krzeminski, Wojtek [N. Copernicus Astronomical Center, ul. Bartycka 18, 00-716 Warszawa (Poland); McCarthy, Patrick [The Observatories of the Carnegie Institution for Science, 813 Santa Barbara Street, Pasadena, CA 91101 (United States); Anderson, Joseph P. [European Southern Observatory, Alonso de Cordova 3107, Vitacura, Casilla 19001, Santiago (Chile); Stritzinger, Maximilian [Department of Physics and Astronomy, Aarhus University (Denmark); Folatelli, Gastón, E-mail: lgalbany@das.uchile.cl [Instituto de Astrofísica de La Plata (IALP, CONICET) (Argentina); and others

    2016-02-15

    We present a compilation of UBVRIz light curves of 51 type II supernovae discovered during the course of four different surveys during 1986–2003: the Cerro Tololo Supernova Survey, the Calán/Tololo Supernova Program (C and T), the Supernova Optical and Infrared Survey (SOIRS), and the Carnegie Type II Supernova Survey (CATS). The photometry is based on template-subtracted images to eliminate any potential host galaxy light contamination, and calibrated from foreground stars. This work presents these photometric data, studies the color evolution using different bands, and explores the relation between the magnitude at maximum brightness and the brightness decline parameter (s) from maximum light through the end of the recombination phase. This parameter is found to be shallower for redder bands and appears to have the best correlation in the B band. In addition, it also correlates with the plateau duration, being shorter (longer) for larger (smaller) s values.

  11. Joint Hypermobility Syndrome/Ehlers-Danlos Syndrome Hypermobility Type: a revision of the rehabilitative approach

    Directory of Open Access Journals (Sweden)

    Claudia Celletti

    2016-09-01

    Full Text Available Joint hypermobility syndrome (JHS and Ehlers-Danlos syndrome, hypermobility type (EDS-HT are two clinically overlapping heritable connective tissue disorders strongly associating with pain, fatigue and other secondary aspects. No specific treatment exist for this syndrome and rehabilitation play a role in the management of these patients. The aim of this paper is to evaluate what are the evidence in literature about rehabilitation. Research was done using database PUBMED and consist in a revision of the studies published in the last 15 years. All studies agree to the beneficial role of the rehabilitative treatment and physical therapy but it’s necessary to add more further studies to establish a high quality, evidence-based physical therapy for this specific population.

  12. Sleep breathing disorders and nocturnal respiratory pattern in patients with glycogenosis type II.

    Science.gov (United States)

    Fiorentino, Giuseppe; Annunziata, Anna; Politano, Luisa

    2014-10-01

    Patients affected by glycogenosis type II frequently present sleep disordered breathing. The presence of symptoms suggestive of sleep breathing disorders was investigated, by a questionnaire, in 10 patients, affected by adult or juvenile forms of glycogenosis type II. Diurnal respiratory function, diaphragm weakness and nocturnal respiratory pattern were evaluated at the enrolment. In patients presenting sleep disordered breathing, the same parameters were re-evaluated after treatment with assisted non invasive ventilation. Out of 10 patients, 5 presented symptoms suggestive of sleep-disordered breathing at the baseline, 2 a pattern of sleep apnea syndrome and 3 nocturnal hypoventilation. All patients presented diaphragmatic weakness. No correlation was found between forced vital capacity values (FVC) in sit position and nocturnal respiratory disorders. Five patients with respiratory disorders were treated with non invasive ventilation. All patients - after one month of treatment - showed an improvement in symptoms with reduced diurnal hypersomnia (ESS < 10), absence of morning headaches and nocturnal awakenings, and reduced nicturia regardless the modality of ventilation. We recommend that all patients with glycogenosis type II, once diagnosed, are carefully monitored for the development of respiratory involvement, even in the absence of reduced FVC values and in the early stages of the disease, to receive appropriate therapy.

  13. Interaction of Ultrasound with Vortices in Type-II Superconductors

    OpenAIRE

    Sonin, E. B.

    1996-01-01

    The theory of the ultrasound propagation in the mixed state of type-II superconductors is suggested which takes into account the Magnus force on vortices, the anti-Magnus force on ions, and diamagnetism of the mixed state. The acoustic Faraday effect (rotation of polarization of the transverse ultrasonic wave propagating along vortices) is shown to be linear in the Magnus force in any regime of the flux flow for wavelengths used in the ultrasound experiments now. Therefore, in contrast to pre...

  14. Flavour-symmetric type-II Dirac neutrino seesaw mechanism

    Science.gov (United States)

    Bonilla, Cesar; Lamprea, J. M.; Peinado, Eduardo; Valle, Jose W. F.

    2018-04-01

    We propose a Standard Model extension with underlying A4 flavour symmetry where small Dirac neutrino masses arise from a Type-II seesaw mechanism. The model predicts the "golden" flavour-dependent bottom-tau mass relation, requires an inverted neutrino mass ordering and non-maximal atmospheric mixing angle. Using the latest neutrino oscillation global fit [1] we derive restrictions on the oscillation parameters, such as a correlation between δCP and mνlightest.

  15. Evaluation of Oral Health in Type II Diabetes Mellitus Patients

    OpenAIRE

    Rathy Ravindran; M.G. Deepa; A.K. Sruthi; Cherian Kuruvila; S Priya; S Sunil; Joseph Edward; G Roopesh

    2015-01-01

    Background: Oral cav ity re flects the general health status of a person and diagnosing and treating oral manifestations of systemic disease pose a greater challenge. Even though there is strong evidence that supports the relationship between oral health and diabetes mellitus, oral health awareness is lacking among diabetic patients and health professionals. The present study was undertaken to determine the oral health status in type II diabetic patients and also...

  16. [A pancreas suture-less type II binding pancreaticogastrostomy].

    Science.gov (United States)

    Peng, Shu-you; Hong, De-fei; Liu, Ying-bin; Li, Jiang-tao; Tao, Feng; Tan, Zhi-jian

    2009-12-01

    To explore the feasibility and safety of type II binding pancreaticogastrostomy (BPG) in pancreaticoduodenectomy and mid-segmentectomy of pancreas. From November 2008 to May 2009, 26 patients underwent pancreaticoduodenectomy and mid-segmentectomy of pancreas with type II BPG reconstruction, including 13 cases of pancreatic head cancer, 3 cases of duodenal adenocarcinoma, 2 cases of ampullary carcinoma, 4 cases of cholangiocarcinoma, 1 case of bile duct cell severe atypical hyperplasia, and 1 case of stomach cancer. The process of type II BPG was described as the following: after pancreas remnant was mobilized for 2-3 cm, a piece of sero-muscular layer at the posterior gastric wall was excised and then a sero-muscular depth purse-suturing with 3-0 prolene was pre-placed (outer purse-string). Incising anterior gastric wall or opening part of the closed distal gastric stump, the mucosa layer at the sero-muscular defect was incised and then purse-suture at the mucosal tube was pre-placed (inner purse-string). Through the two pre-placed purse-strings, the pancreas remnant was pulled into the gastric lumen and then posterior gastric wall was pushed backward to keep it closely in contact with the retro-peritoneal wall. Thereafter, the outer purse-string was tied (outer binding) and then the inner purse-string was tied (inner binding). All cases underwent BPG of type II. The operative time ranged from 3 to 5.5 hours. The postoperative hospital stay ranged from 6 to 48 days. Postoperative complications included 1 case of ascites, 2 cases of delayed gastric emptying and 1 case of intra-abdominal bleeding. All cases with complications were cured after nonsurgical treatment. No mortality or pancreatic leakage occurred. Pancreaticogastrostomy is good for accommodating a large pancreas stump. Binding technique is very helpful in minimizing the leak rate of pancreaticogastrostomy. While type I BPG is safe and easy to perform, type II is even safer and easier to be done.

  17. Type I-II laryngeal cleft: clinical course and outcome.

    Science.gov (United States)

    Slonimsky, Guy; Carmel, Eldar; Drendel, Michael; Lipschitz, Noga; Wolf, Michael

    2015-04-01

    Laryngeal cleft (LC) is a rare congenital anomaly manifesting in a variety of symptoms, including swallowing disorders and aspirations, dyspnea, stridor and hoarseness. The mild forms (types I-II) may be underdiagnosed, leading to protracted symptomatology and morbidity. To evaluate the diagnostic process, clinical course, management and outcome in children with type I-II laryngeal clefts. We conducted a retrospective case analysis for the years 2005-2012 in a tertiary referral center. Seven children were reviewed: five boys and two girls ranging in age from birth to 5 years. The most common presenting symptoms were cough, aspirations and pneumonia. Evaluation procedures included fiber-optic laryngoscopy (FOL), direct laryngoscopy (DL) and videofluoroscopy. Other pathologies were seen in three children. Six children underwent successful endoscopic surgery and one child was treated conservatively. The postoperative clinical course was uneventful in most of the cases. Types I-II LC should be considered in the differential diagnosis of children presenting with protracted cough and aspirations. DL is crucial for establishing the diagnosis. Endoscopic surgery is safe and should be applied promptly when conservative measures fail.

  18. Perinatal lethal type II osteogenesis imperfecta: a case report.

    Science.gov (United States)

    Ayadi, Imene Dahmane; Hamida, Emira Ben; Rebeh, Rania Ben; Chaouachi, Sihem; Marrakchi, Zahra

    2015-01-01

    We report a new case of osteogenesis imperfecta (OI) type II which is a perinatal lethal form. First trimester ultrasound didn't identified abnormalities. Second trimester ultrasound showed incurved limbs, narrow chest, with hypomineralization and multiple fractures of ribs and long bones. Parents refused pregnancy termination; they felt that the diagnosis was late. At birth, the newborn presented immediate respiratory distress. Postnatal examination and bone radiography confirmed the diagnosis of OI type IIA. Death occurred on day 25 of life related to respiratory failure.

  19. Type II restriction endonucleases : a historical perspective and more

    OpenAIRE

    Pingoud, Alfred; Wilson, Geoffrey G.; Wende, Wolfgang

    2014-01-01

    This article continues the series of Surveys and Summaries on restriction endonucleases (REases) begun this year in Nucleic Acids Research. Here we discuss ‘Type II’ REases, the kind used for DNA analysis and cloning. We focus on their biochemistry: what they are, what they do, and how they do it. Type II REases are produced by prokaryotes to combat bacteriophages. With extreme accuracy, each recognizes a particular sequence in double-stranded DNA and cleaves at a fixed position within or nea...

  20. [Post-polio syndrome. Part II. Therapeutic management].

    Science.gov (United States)

    Matyja, Ewa

    2012-01-01

    The care of patients with post-polio syndrome ought to be carried out by a multidisciplinary team of specialists, including medical professionals, specialists of rehabilitation, psychologists and social workers. Many therapeutic strategies might be employed to reduce the late effects of polio. Today, the management of post-polio syndrome is based on non-pharmacological intervention, including lifestyle modification, decrease of physical activity, rest periods during the day and an individually tailored training program.

  1. Obstetric ultrasonographic findings of Chiari type II: Case report

    Directory of Open Access Journals (Sweden)

    Alptekin Tosun

    2009-01-01

    Full Text Available Chiari malformations divided into 3 groups. Chiari type I malformation is caudal protrusion of cerebellar tonsils. Type II malformation is the most common and associate with meningomyelocele. Type III is a high cervical men-ingoencephalocele and uncommon.Spina bifida, has classified into open and closed forms as skin covered spine lesions. Cranial signs are not ac-companiment on closed type. Open type usually diag-nosed on prenatal period. Typical findings are ventricu-lomegaly, lemon sign (bifrontal indentation, banana sign (Chiari II malformation, obliteration of cisterna magna and small BPD and body measurements according to gestation age. Occipital horns are higher than 10 mm in ventriculomegaly. Choroid plexus are small and looking like tear. Limon sign defines biconcave frontal bones as looking like a lemon. Banana sign and obliteration of cis-terna magna resulted cause of hypoplasia of posterior fossa. Compression of cerebellum causing abnormal lo-calization, although cerebellar tonsils and vermis herni-ated to foramen magnum. Hemispheres are wrapping brain stem and looking like ‘‘C’’ (banana sign. Spinal longitudinal sonogram reveals open spine and skin de-fect, although dilatation on spine canal and increased in-terpedincular distance.

  2. [Discussion of Chinese syndrome typing in acute hepatic failure model].

    Science.gov (United States)

    Zhang, Jin-liang; Zeng, Hui; Wang, Xian-bo

    2011-05-01

    To study Chinese syndrome typing of acute hepatic failure (AHF) mice model by screening effective formulae. Lipoplysaccharides (LPS)/D-galactosamine (D-GaIN) was intraperitoneally injected to mice to establish the AHF mice model. Yinchenhao Decoction, Huanglian Jiedu Decoction, Buzhong Yiqi Decoction, and Xijiao Dihuang Decoction were administered to model mice respectively by gastrogavage. The behavior and the survival rate were monitored. The liver function and pathological changes of liver tissues were detected. In all the tested classic recipes, the survival rate was elevated from 10% to 60% by administration of Xijiao Dihuang Decoction. Five h after modeling, the serum alanine aminotransferase (ALT) level was (183.95 +/- 52.00) U/L, and aspartate aminotransferase (AST) (235.70 +/- 34.03) U/L in Xijiao Di-huang Decoction Group, lower than those of the model control group, but with insignificant difference (ALT: 213.32 +/- 71.93 U/L; AST: 299.48 +/- 70.56 U/L, both P > 0.05). Xijiao Dihuang Decoction could obviously alleviate the liver injury. Xijiao Dihuang Decoction was an effective formula for LPS/D-GaIN induced AHF model. According to syndrome typing through formula effect, heat toxin and blood stasis syndrome dominated in the LPS/D-GalN induced AHF mice model.

  3. Rapid single step subcloning procedure by combined action of type II and type IIs endonucleases with ligase

    Directory of Open Access Journals (Sweden)

    Klingenspor Martin

    2007-11-01

    Full Text Available Abstract Background The subcloning of a DNA fragment from an entry vector into a destination vector is a routinely performed task in molecular biology labs. Results We here present a novel benchtop procedure to achieve rapid recombination into any destination vector of choice with the sole requirement of an endonuclease recognition site. The method relies on a specifically designed entry vector and the combined action of type II and type IIs endonucleases with ligase. The formulation leads to accumulation of a single stable cloning product representing the desired insert carrying destination vector. Conclusion The described method provides a fast single step procedure for routine subcloning from an entry vector into a series of destination vectors with the same restriction enzyme recognition site.

  4. Rapid single step subcloning procedure by combined action of type II and type IIs endonucleases with ligase.

    Science.gov (United States)

    Fromme, Tobias; Klingenspor, Martin

    2007-11-26

    The subcloning of a DNA fragment from an entry vector into a destination vector is a routinely performed task in molecular biology labs. We here present a novel benchtop procedure to achieve rapid recombination into any destination vector of choice with the sole requirement of an endonuclease recognition site. The method relies on a specifically designed entry vector and the combined action of type II and type IIs endonucleases with ligase. The formulation leads to accumulation of a single stable cloning product representing the desired insert carrying destination vector. The described method provides a fast single step procedure for routine subcloning from an entry vector into a series of destination vectors with the same restriction enzyme recognition site.

  5. [Complex regional pain syndrome type 1: negating the myth].

    Science.gov (United States)

    Frölke, Jan Paul M; van Dongen, Robert T; van de Meent, Henk

    2015-01-01

    Complex regional pain syndrome type 1 (CRPS-1) was identified in the Netherlands more than 30 years ago, but since then the arguments supporting this diagnosis have become weaker. Incidence has decreased, it is often not possible to make a definite diagnosis, the pathophysiology remains unclear and treatments are extremely diverse. Since the patient group is so heterogeneous, it is often unclear exactly which patients should be included. Disuse due to immobilization can give an identical clinical picture, including the inflammatory parameters that are seen in CRPS-1. CRPS-1 following injury can be prevented with exercise, and incidence is declining dramatically. Taking these factors into consideration, we support the view that CRPS-1 is not an illness but rather a 'disuse syndrome' as a result of immobilization, or there may be a missed underlying diagnosis.

  6. Complex regional pain syndrome type I following pacemaker implantation

    Directory of Open Access Journals (Sweden)

    Sangita Kamath

    2015-12-01

    Full Text Available A 70-year-old woman presented with burning pain and swelling over dorsum of right hand and small joints of the fingers, associated with redness, feeling of warmth, and stiffness of the fingers, with inability to bend the fingers since 2 months. The symptoms were progressively increasing in intensity for the past 1 month. There was no history of fever or trauma to the hand. Two months before her symptoms started, she had permanent pacemaker implanted for complete heart block with syncope. She was hypertensive and was on regular medication. Her X-ray of right hand showed decreased bone density (demineralisation, suggestive of osteopenia. A diagnosis of reflex sympathetic dystrophy syndrome or complex regional pain syndrome type I induced by pacemaker insertion was made. She was treated with amitriptyline and steroids, after which her symptoms improved dramatically.

  7. [The hemodynamic characteristics of septic shock and relationship with syndrome types of traditional Chinese medicine].

    Science.gov (United States)

    He, Jianzhuo; Wang, Lei; Yin, Xin; Guo, Liheng; Zhang, Minzhou

    2016-02-01

    To observe hemodynamic characteristics and the correlation with syndrome types of traditional Chinese medicine (TCM) in patients with septic shock, so as to direct the treatment based on syndrome differentiation. A prospective observation was conducted. Sixty-eight patients with septic shock admitted to the Department of Critical Care Medicine of Dade Road General Hospital of Guangdong Hospital of TCM from January 2013 to July 2015 were enrolled. Pulse indicating continuous cardiac output (PiCCO) was used to monitor the hemodynamic changes, including heart rate (HR), mean arterial pressure (MAP), central venous pressure (CVP), cardiac index (CI), global end diastolic volume index (GEDVI), extravascular lung water index (EVLWI), maximum rate of the increase in pressure (dPmax) and systemic vascular resistance index (SVRI), for assessment of hemodynamics. According to the CI, the patients were divided into two groups , i.e. high CI group (CI ≥ 50.0 mL×s(-1)×m(-2), n = 34) and low CI group (CI characteristics of two groups were investigated. The TCM differentiation was conducted with "four syndromes and four methods", and the hemodynamic characteristics of different syndrome types were investigated, the correlation between the TCM syndrome factors and hemodynamic parameters was analyzed. The patients were divided into survival group and death group, and clinical parameters and hemodynamic characteristics were compared between two groups. The acute physiology and chronic health evaluation II (APACHEII) score and blood glucose of low CI group were higher than those of high CI group [APACHEII score: 24.4±7.2 vs. 19.8±7.4, t = -2.279, P = 0.023; blood glucose (mmol/L): 9.7 (7.7, 14.6) vs. 6.7 (5.6, 10.0), Z = -2.257, P = 0.024], CI and GEDVI were lowered [CI (mL×s(-1)×m(-2)): 36.7±8.3 vs. 68.4±16.7, t = 10.285, P = 0.000; GEDVI (mL/m(2)): 689.0 (566.0, 883.8) vs. 838.5 (692.8, 1?247.3), Z = -2.711, P = 0.007], while SVRI was increased [kPa×s×L(-1)×m(-2): 248

  8. Evidence for effects on thermoregulation after acute oral exposure to type I and type II pyrethroids in infant rats.

    Science.gov (United States)

    Bardullas, Ulises; Sosa-Holt, Carla Solange; Pato, Alejandro Martín; Nemirovsky, Sergio Iván; Wolansky, Marcelo Javier

    2015-01-01

    Most pyrethroid (PYR) insecticides may be classified either as type-I compounds, which produce whole body tremors and hyperthermia, or type-II compounds, which produce salivation, choreoathetosis, and hypothermia (i.e., producing T and CS neurobehavioral syndromes, respectively). This classification is based on clinical observations in adult rats and mice after intracerebroventricular or intravascular administration of highly effective acute (bolus) doses. PYR neurotoxicity in infant animals is not characterized as much as in adult animals. Endpoints informing on vital determinants of mammal's maturation, such as body temperature may help recognizing age-related differences in susceptibility to PYRs. In this work, body temperature (Tb) was monitored at 30-min intervals after acute oral exposure to T-syndrome PYR bifenthrin (BIF), CS-syndrome PYR cypermethrin (CYPM), and a BIF–CYPM mixture in weanling rats by using a subcutaneous temperature monitoring system. In both single-compound assays, a time- and dose-related decline of Tb was the most evident impact on thermoregulation observed starting at ~2–3 h after dosing.Moreover, 15–18 mg/kg BIF induced a mild increase in Tb before the hypothermic action was apparent. The lowest effective dose for temperature perturbation was 15mg/kg for BIF and 10mg/kg for CYPM, and moderate neurobehavioral alterations were evident at 12 and 10mg/kg, respectively. When low effective doses of BIF and CYPM were co-administered mild behavioral effects and a transient increase in Tb (p=0.02) were observed at 1–2 h, and no Tb decline was apparent afterwards compared to control animals. Noteworthy, the hypothermic action of BIF in infant rats was quite different from the hyperthermia consistently reported in studies using mature animals. Our results suggest that body temperature monitoring may be useful as a complementary assessment to reveal qualitative age-specific pesticide effects in rats.

  9. Preferential type II muscle fiber damage from plyometric exercise.

    Science.gov (United States)

    Macaluso, Filippo; Isaacs, Ashwin W; Myburgh, Kathryn H

    2012-01-01

    Plyometric training has been successfully used in different sporting contexts. Studies that investigated the effect of plyometric training on muscle morphology are limited, and results are controversial with regard to which muscle fiber type is mainly affected. To analyze the skeletal muscle structural and ultrastructural change induced by an acute bout of plyometric exercise to determine which type of muscle fibers is predominantly damaged. Descriptive laboratory study. Research laboratory. Eight healthy, untrained individuals (age = 22 ± 1 years, height = 179.2 ± 6.4 cm, weight = 78.9 ± 5.9 kg). Participants completed an acute bout of plyometric exercise (10 sets of 10 squat-jumps with a 1-minute rest between sets). Blood samples were collected 9 days and immediately before and 6 hours and 1, 2, and 3 days after the acute intervention. Muscle samples were collected 9 days before and 3 days after the exercise intervention. Blood samples were analyzed for creatine kinase activity. Muscle biopsies were analyzed for damage using fluorescent and electron transmission microscopy. Creatine kinase activity peaked 1 day after the exercise bout (529.0 ± 317.8 U/L). Immunofluorescence revealed sarcolemmal damage in 155 of 1616 fibers analyzed. Mainly fast-twitch fibers were damaged. Within subgroups, 7.6% of type I fibers, 10.3% of type IIa fibers, and 14.3% of type IIx fibers were damaged as assessed by losses in dystrophin staining. Similar damage was prevalent in IIx and IIa fibers. Electron microscopy revealed clearly distinguishable moderate and severe sarcomere damage, with damage quantifiably predominant in type II muscle fibers of both the glycolytic and oxidative subtypes (86% and 84%, respectively, versus only 27% of slow-twitch fibers). We provide direct evidence that a single bout of plyometric exercise affected mainly type II muscle fibers.

  10. Oral–Facial–Digital Syndrome type VI with self mutilations

    African Journals Online (AJOL)

    Rabah M. Shawky

    2014-06-24

    Jun 24, 2014 ... Oral–Facial–Digital. Syndrome type VI;. Varadi–Papp syndrome;. Self mutilation;. Polydactyly;. Molar tooth sign;. Peudocleft lip. Abstract We report the case of a 2.5 ... guineous marriage, with the typical features of Oral–Facial–Digital Syndrome type VI (OFDS VI) ..... cilium biology, and complex disease.

  11. Vacuum stability and naturalness in type-II seesaw

    Energy Technology Data Exchange (ETDEWEB)

    Haba, Naoyuki; Ishida, Hiroyuki [Shimane University, Graduate School of Science and Engineering, Matsue (Japan); Okada, Nobuchika [University of Alabama, Department of Physics and Astronomy, Tuscaloosa, AL (United States); Yamaguchi, Yuya [Shimane University, Graduate School of Science and Engineering, Matsue (Japan); Hokkaido University, Department of Physics, Faculty of Science, Sapporo (Japan)

    2016-06-15

    We study the vacuum stability and perturbativity conditions in the minimal type-II seesaw model. These conditions give characteristic constraints to the model parameters. In the model, there is a SU(2){sub L} triplet scalar field, which could cause a large Higgs mass correction. From the naturalness point of view, heavy Higgs masses should be lower than 350 GeV, which may be testable by the LHC Run-II results. Due to the effects of the triplet scalar field, the branching ratios of the Higgs decay (h → γγ, Zγ) deviate from the standard model, and a large parameter region is excluded by the recent ATLAS and CMS combined analysis of h → γγ. Our result of the signal strength for h → γγ is R{sub γγ}

  12. Craniodentofacial Manifestations in a Rare Syndrome: Orofaciodigital Type IV (Mohr-Majewski Syndrome

    Directory of Open Access Journals (Sweden)

    Meltem Ozdemir-Karatas

    2014-01-01

    Full Text Available Background. The orofaciodigital syndromes (OFDS are a heterogeneous group of syndromes that affect the face, oral cavity, and the digits. OFDS type IV (OMIM %258860 is rare and characterized by broad nasal root and tip, orbital hypertelorism or telecanthus, micrognathia, hypoplastic mandible, and low-set ears. Oral symptoms may include cleft lip, cleft or highly arched palate, bifid uvula, cleft or hypoplastic maxillary and mandibular alveolar ridge, oral frenula, lingual hamartoma, and absent or hypoplastic epiglottis. Dental anomalies are common and generally include disturbances in the number of teeth. Case Report. This report presents a six-year-old girl, referred with the chief complaint of missing teeth. She was diagnosed as having OFDS type IV based on clinical findings. Her parents reported three deceased children and two fetuses that had the same phenotype. She was the seventh child of consanguineous parents who were first cousins. Conclusion. This is a very rare syndrome. Many reported OFDS type IV cases have consanguineous parents, consistent with an autosomal recessive trait. Manifestation of cleft palate in the healthy sibling may be mild expression of the disorder or an unrelated isolated cleft.

  13. Oral and dental findings of griscelli syndrome type 3

    Directory of Open Access Journals (Sweden)

    Ozlem Marti Akgun

    2015-09-01

    Full Text Available Griscelli syndrome (GS is a rare autosomal recessive genetic disorder characterized by variable immunodeficiency, partial albinism, abnormal accumulation of melanosomes in melanocytes, pigmentary dilution of the skin, and shiny silver-gray hair. GS has three types, with the first and second types caused by mutations in two genes being located at band 15q21: RAB27A and MYO5A. The expression of the third form of GS is restricted to the characteristic hypopigmentation of GS, and results from mutation in the gene that encodes melanophilin MLPH. It has also been shown that an identical phenotype can result from the deletion of the MYO5A F-exon. The aim of this case report is the presentation of oral and dental features and SEM images of the hair of a 12-year-old girl with GS type 3. [Arch Clin Exp Surg 2015; 4(3.000: 164-167

  14. [Glucose transporter protein type 1 (GLUT-1) deficiency syndrome].

    Science.gov (United States)

    Ramm-Pettersen, Anette; Selmer, Kaja Kristine; Nakken, Karl O

    2011-05-06

    Glucose is the brain's main source of energy. To pass the blood-brain barrier, glucose transporter protein type 1 (GLUT-1) is essential. Mutations in the SLC2A1 gene which codes for GLUT-1 may therefore compromise the supply of glucose to the brain. The aim of this review is to describe the clinical consequences of such mutations, with special emphasis on GLUT-1 encephalopathy. This review is based on a non-systematic literature search in PubMed and the authors' experience within the field. Epileptic or epilepsy-like are usually the first symptom in children with the GLUT-1 deficiency syndrome. Later on these children suffer delayed psychomotor development, microcephaly, ataxia, spasticity or movement disorders. EEG abnormalities may develop. GLUT-1 deficiency syndrome should be suspected in children with epilepsy-like seizures and delayed development combined with a low content of glucose in spinal fluid. The diagnosis is confirmed by genetic testing. Treatment is a ketogenic diet, as ketone bodies pass the blood-brain barrier using other transport proteins than GLUT-1. GLUT-1-deficiency syndrome is a rare metabolic encephalopathy which is not well known and probably underdiagnosed. An early diagnosis and early start of a ketogenic diet may give these children a normal or nearly normal life.

  15. Clinical findings in obligate carriers of type I Usher syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Wagenaar, M.; Rahe, B. ter; Aarem, A. van; Huygen, P.; Admiraal, R. [University Hospital Nijmegen (Netherlands)] [and others

    1995-11-20

    Seventeen obligate carriers from nine families with autosomal recessive Usher syndrome type I underwent otological, audiological, vestibular, and ophthalmological examination in order to identify possible manifestations of heterozygosity. Linkage studies were performed and six families showed linkage to chromosome region 11q13.5 while 3 families have so far failed to show linkage to the candidate regions. Eight obligate carriers had an abnormal puretone audiogram. Two different audiometric patterns could be distinguished when hearing loss was corrected for age and sex. Four carriers (24%) had significant sensorineural hearing loss (SNHL) which increased at higher frequencies. The other 13 carriers had SNHL of about 10 dB at 0.25 and 0.5 kHz, but less at higher frequencies. Vestibular findings were generally normal. Electrooculography demonstrated a significant lower mean light peak/dark trough ratio in Usher type I carriers compared to normal control individuals. The methods used in this study were found not to be specific enough to clinically identify carriers of Usher type I syndrome. Nevertheless it is remarkable that a number of obligate carriers showed significant audiological and ophthalmological abnormalities. 29 refs., 1 fig., 3 tabs.

  16. Type 1 diabetes and polyglandular autoimmune syndrome: A review

    Science.gov (United States)

    Hansen, Martin P; Matheis, Nina; Kahaly, George J

    2015-01-01

    Type 1 diabetes (T1D) is an autoimmune disorder caused by inflammatory destruction of the pancreatic tissue. The etiopathogenesis and characteristics of the pathologic process of pancreatic destruction are well described. In addition, the putative susceptibility genes for T1D as a monoglandular disease and the relation to polyglandular autoimmune syndrome (PAS) have also been well explored. The incidence of T1D has steadily increased in most parts of the world, especially in industrialized nations. T1D is frequently associated with autoimmune endocrine and non-endocrine diseases and patients with T1D are at a higher risk for developing several glandular autoimmune diseases. Familial clustering is observed, which suggests that there is a genetic predisposition. Various hypotheses pertaining to viral- and bacterial-induced pancreatic autoimmunity have been proposed, however a definitive delineation of the autoimmune pathomechanism is still lacking. In patients with PAS, pancreatic and endocrine autoantigens either colocalize on one antigen-presenting cell or are expressed on two/various target cells sharing a common amino acid, which facilitates binding to and activation of T cells. The most prevalent PAS phenotype is the adult type 3 variant or PAS type III, which encompasses T1D and autoimmune thyroid disease. This review discusses the findings of recent studies showing noticeable differences in the genetic background and clinical phenotype of T1D either as an isolated autoimmune endocrinopathy or within the scope of polyglandular autoimmune syndrome. PMID:25685279

  17. Waardenburg syndrome type 2 in an african patient

    Directory of Open Access Journals (Sweden)

    H. Otman S

    2005-01-01

    Full Text Available A thirty six year-old African man, born in the Southern part of Libya, presented with congenital deafness and white forelock, variable-sized hypopigmented, depigmented patches and hyperpigmented islands within the areas of hypomelanosis affecting the upper parts of the trunk, both arms and forearms. The nasal root was hypertrophied, but there was a lack of lateral displacement of medial canthi. We report this case of Waardenburg syndrome type 2 (WS 2. As no treatment is available for patients with WS 2, prompt diagnosis and referral to a hearing specialist are crucial for the normal development of patients affected with this condition.

  18. Griscelli syndrome type 2: A rare and fatal syndrome in a South Indian boy

    Directory of Open Access Journals (Sweden)

    R Rajyalakshmi

    2016-01-01

    Full Text Available Griscelli syndrome (GS is a rare autosomal recessive disorder caused by mutation in the MYO5A (GS1, RAB27A (GS2, and MLPH (GS3 genes, characterized by a common feature, partial albinism. The common variant of three, GS type 2, in addition, shows primary immunodeficiency which leads to recurrent infections and hemophagocytic lymphohistiocytosis. We, herewith, describe a case of GS type 2, in a 4-year-old male child who presented with chronic and recurrent fever, lymphadenopathy, hepatosplenomegaly, and secondary neurological deterioration; highlighting the cytological and histopathological features of lymph nodes. Hair shaft examination of the child confirmed the diagnosis.

  19. The role of alveolar type II cells in swine leptospirosis

    Directory of Open Access Journals (Sweden)

    Ângela P. Campos

    2015-07-01

    Full Text Available Abstract: This study aimed to investigate a possible relationship between alveolar type II cells and the inflammatory response to infection with Leptospira spp., and thus comprise a further element that can be involved in the pathogenesis of lung injury in naturally infected pigs. The study group consisted of 73 adult pigs that were extensively reared and slaughtered in Teresina, Piauí state, and Timon, Maranhão state, Brazil. The diagnosis of leptospirosis was made using the microscopic agglutination test (MAT aided by immunohistochemistry and polymerase chain reaction. The MAT registered the occurrence of anti-Leptospira antibodies in 10.96% (8/73 of the pigs. Immunohistochemistry allowed for the visualization of the Leptospira spp. antigen in the lungs of 87.67% (64/73 of the pigs. There was hyperplasia of bronchus-associated lymphoid tissue and circulatory changes, such as congestion of alveolar septa, parenchymal hemorrhage and edema within the alveoli. Lung inflammation was more intense (p = 0.0312 in infected animals, which also showed increased thickening of the alveolar septa (p = 0.0006. Evaluation of alveolar type II (ATII cells using an anti-TTF-1 (Thyroid Transcription Factor-1 antibody showed that there were more immunostained cells in the non-infected pigs (53.8% than in the infected animals (46.2% and that there was an inverse correlation between TTF-1 positive cells and the inflammatory infiltrate. There was no amplification of Leptospira DNA in the lung samples, but leptospiral DNA amplification was observed in the kidneys. The results of this study showed that a relationship exists between a decrease in alveolar type II cells and a leptospire infection. Thus, this work points to the importance of studying the ATII cells as a potential marker of the level of lung innate immune response during leptospirosis in pigs.

  20. Type II diabetes mellitus and menopause: a multinational study.

    Science.gov (United States)

    Monterrosa-Castro, A; Blümel, J E; Portela-Buelvas, K; Mezones-Holguín, E; Barón, G; Bencosme, A; Benítez, Z; Bravo, L M; Calle, A; Chedraui, P; Flores, D; Espinoza, M T; Gómez, G; Hernández-Bueno, J A; Laribezcoa, F; Lima, S; Martino, M; Mostajo, D; Ojeda, E; Onatra, W; Sánchez, H; Navarro, D; Tserotas, K; Vallejo, M S; Witis, S; Zuñiga, M C

    2013-12-01

    Type II diabetes mellitus causes metabolic changes that may lead to early menopause and worsen climacteric symptoms. To determine the risk factors for type II diabetes mellitus and assess the impact of this disease on the age of menopause and on climacteric symptoms. A total of 6079 women aged between 40 and 59 years from 11 Latin American countries were requested to answer the Menopause Rating Scale and Goldberg Anxiety-Depression Scale. The prevalence of diabetes was 6.7%. Diabetes mellitus was associated with arterial hypertension (odds ratio (OR) 4.49; 95% confidence interval (CI) 3.47-5.31), the use of psychotropic drugs (OR 1.54; 95% CI 1.22-1.94), hormonal therapy (OR 1.46; 95% CI 1.11-1.92), ≥ 50 years of age (OR 1.48; 95% CI 1.17-1.86), overweight or obese (OR 1.47; 95% CI 1.15-1.89), and waist circumference ≥ 88 cm (OR 1.32; 95% CI 1.06-1.65). Factors associated with lower risk of diabetes were the use of hormonal contraceptives (OR 0.55; 95% CI 0.35-0.87), alcohol (OR 0.73; 95% CI 0.54-0.98) and living in cities > 2500 meters above sea level (OR 0.70; 95% CI 0.53-0.91) or with high temperatures (OR 0.67; 95% CI 0.51-0.88). In turn, diabetes tripled the risk of menopause in women under 45 years of age. Diabetes did not increase the risk of deterioration of quality of life due to climacteric symptoms. Menopause does not increase the risk of type II diabetes mellitus. Diabetes is associated with early menopause in women under 45 years of age.

  1. Frequency of metabolic syndrome in type-2 diabetes mellitus

    International Nuclear Information System (INIS)

    Kiani, I.G.; Khan, A.N.; Yasir, S.; Baluch, U.T.

    2016-01-01

    Background: Metabolic syndrome (MetS) is a cluster of coronary risk factors such as diabetes and pre-diabetes, abdominal obesity, high triglyceride (TG), low high density lipoprotein cholesterol (HDL-c) levels and high blood pressure (BP). It is estimated that around a quarter of the world adult population have MetS and they are twice as likely to die from it and three times as likely to have a coronary event or stroke compared with people without the syndrome. Methods: This observational descriptive study was conducted at the Department of General Medicine, Federal Government Polyclinic Islamabad. All type-2 diabetics presenting in the outpatient and inpatient department during 11 months between the ages of 30-80 were enrolled. They were interviewed, blood pressure, waist circumference, fasting blood glucose, and lipid profiles were checked. Results: Of the 300 patients 165 (55 percentage) were females and 135 (45 percentage) were males with mean age 52.47±11.24 years. The mean duration of Diabetes Mellitus was 7.38±3.85 years. Metabolic Syndrome was present in 83 percentage of the study population, 129 (43 percentage) were male and 171 (57 percentage) were female. The p-value was statistically significant on comparing the presence of the Metabolic Syndrome with waist circumference, serum triglyceride levels, and blood pressure as it was <0.05. The most commonly occurring finding was a decreased HDL-cholesterol in both genders. Conclusions: The MetS was present in 83 percentage of the diabetic population, mostly in females with decreased HDL-cholesterol being the most common in both genders. (author)

  2. Type II Superstring Field Theory: Geometric Approach and Operadic Description

    CERN Document Server

    Jurco, Branislav

    2013-01-01

    We outline the construction of type II superstring field theory leading to a geometric and algebraic BV master equation, analogous to Zwiebach's construction for the bosonic string. The construction uses the small Hilbert space. Elementary vertices of the non-polynomial action are described with the help of a properly formulated minimal area problem. They give rise to an infinite tower of superstring field products defining a $\\mathcal{N}=1$ generalization of a loop homotopy Lie algebra, the genus zero part generalizing a homotopy Lie algebra. Finally, we give an operadic interpretation of the construction.

  3. Predicted continuum spectra of type II supernovae - LTE results

    Science.gov (United States)

    Shaviv, G.; Wehrse, R.; Wagoner, R. V.

    1985-01-01

    The continuum spectral energy distribution of the flux emerging from type II supernovae is calculated from quasi-static radiative transfer through a power-law density gradient, assuming radiative equilibrium and LTE. It is found that the Balmer jump disappears at high effective temperatures and low densities, while the spectrum resembles that of a dilute blackbody but is flatter with a sharper cutoff at the short-wavelength end. A significant UV excess is found in all models calculated. The calculation should be considered exploratory because of significant effects which are anticipated to arise from departure from LTE.

  4. Vitamin D - Dependent Rickets, Type II Case Report

    OpenAIRE

    Azemi, Mehmedali; Berisha, Majlinda; Ismaili-Jaha, Vlora; Kolgeci, Selim; Hoxha, Rina; Grajçevci-Uka, Violeta; Hoxha-Kamberi, Teuta

    2014-01-01

    Aim: The aim of this work the report of one case with vitamin D-dependent rickets, type II. Methods: Diagnosis has been established based on anamnesis, physical examination, laboratory findings and radiological examination. Results: A female child (age 25 months) has been hospitalized due to bone deformity, bone pain, alopecia and walking difficulties. The laboratory findings have revealed that the calcium values was low (1.20 mmol/L), phosphates in the reference value (1.30 mmol/L) the alkal...

  5. Nonsurgical endodontic treatment of type II dens invaginatus

    Science.gov (United States)

    MA, Rajini; Kaiwar, Anjali; N, Meena; Kumari R, Anitha; Shetty, Ashish; DN, Naveen; N, Shubhashini

    2009-01-01

    The endodontic treatment of teeth with dens invaginatus, characterized by an infolding of enamel and dentin, extending deep into the pulp cavity near the root apex, may be complicated and challenging. The complexity of the internal anatomy may create challenges for the complete removal of diseased pulpal tissue and the subsequent sealing of the canal system. Because of the bizarre root canal anatomy and widely open apex, a combination of nonsurgical and surgical endodontic treatment or extraction is the most common choice of therapy. This article describes case reports of nonsurgical endodontic treatment of Type II dens invaginatus associated with periradicular lesion. PMID:20617071

  6. CA-125 level as a prognostic indicator in type I and type II epithelial ovarian cancer.

    Science.gov (United States)

    Chen, Xiaoxiang; Zhang, Jing; Cheng, Wenjun; Chang, Doo Young; Huang, Jianfei; Wang, Xuan; Jia, Lizhou; Rosen, Daniel G; Zhang, Wei; Yang, Da; Gershenson, David M; Sood, Anil K; Bast, Robert C; Liu, Jinsong

    2013-06-01

    Most patients with epithelial ovarian cancer achieve a complete clinical remission (CCR) with normal CA-125 but will still relapse and die from their disease. The present study was designed to determine whether CA-125 levels before, during, and after primary treatment provide prognostic information for both type I and type II ovarian cancer. In this retrospective study, we identified 410 patients with epithelial ovarian cancer who had achieved a CCR between 1984 and 2011. A Cox proportional hazards model and log-rank test were used to assess associations between the nadir CA-125, histotype, and prognosis. The baseline serum CA-125 concentration was higher in patients with type II ovarian cancer than in those with type I ovarian cancer (P CA-125 was an independent predictor of progression-free survival (PFS; P CA-125 of 10 U/mL or less and 13.6 and 64.6 months in those with CA-125 of 11 to 35 U/mL, respectively (P = 0.01 and P = 0.002, respectively). Histotype was an independent predictor of PFS (P = 0.041): the PFS and OS durations of the patients with type I ovarian cancer were longer than those of the patients with type II ovarian cancer (P CA-125 and histotype are predictive of PFS and OS durations in patients with ovarian cancers who experienced a CCR. Progression-free survival and OS durations were shorter in the patients with CA-125 levels of 11 to 35 U/mL and type II disease than in those with CA-125 levels of 10 U/mL or less and type I ovarian cancer.

  7. The type II collagen fragments Helix-II and CTX-II reveal different enzymatic pathways of human cartilage collagen degradation

    DEFF Research Database (Denmark)

    Charni-Ben Tabassi, N; Desmarais, S; Jensen, Anne-Christine Bay

    2008-01-01

    OBJECTIVE: Cartilage degradation in osteoarthritis (OA) generates the type II collagen fragments, Helix-II and CTX-II that can be used as clinical biological markers. Helix-II and C-telopeptide of type II collagen (CTX-II) levels are associated independently with progression of OA suggesting...... that they may be generated through different collagenolytic pathways. In this study we analyzed the release of Helix-II and CTX-II from human cartilage collagen by the proteinases reported to play a role in cartilage degradation. METHODS: In vitro, human articular cartilage extract was incubated with activated...... pathways. Helix-II and CTX-II alone reflect only partially overall cartilage collagen degradation. These findings may explain why these two biological markers could provide complementary information on disease progression in OA....

  8. Effect of Collagen Type I or Type II on Chondrogenesis by Cultured Human Articular Chondrocytes

    NARCIS (Netherlands)

    Rutgers, M.; Saris, Daniël B.F.; Vonk, L.A.; van Rijen, M.H.P.; Akrum, V.; Langeveld, D.; van Boxtel, A.; Dhert, W.J.A.; Creemers, L.B.

    2013-01-01

    Introduction: Current cartilage repair procedures using autologous chondrocytes rely on a variety of carriers for implantation. Collagen types I and II are frequently used and valuable properties of both were shown earlier in vitro, although a preference for either was not demonstrated. Recently,

  9. Cognitive Dysfunction Is Worse among Pediatric Patients with Bipolar Disorder Type I than Type II

    Science.gov (United States)

    Schenkel, Lindsay S.; West, Amy E.; Jacobs, Rachel; Sweeney, John A.; Pavuluri, Mani N.

    2012-01-01

    Background: Impaired profiles of neurocognitive function have been consistently demonstrated among pediatric patients with bipolar disorder (BD), and may aid in the identification of endophenotypes across subtypes of the disorder. This study aims to determine phenotypic cognitive profiles of patients with BD Type I and II. Methods: Subjects (N =…

  10. Synthesis and characterization of heterobimetallic complexes of the type [Cu(pn2][MCl4] where M = Co(II, Ni(II, Cu(II, Zn(II, Cd(II, and Hg(II

    Directory of Open Access Journals (Sweden)

    Seema Yadav

    2016-11-01

    Full Text Available A series of new bimetallic transition metal complexes of the type [Cu(pn2] [MCl4] have been synthesized (where M = Co(II, Ni(II, Cu(II, Zn(II, Cd(II and Hg(II, pn = 1,3-diaminopropane and characterized by elemental analysis, molar conductance, TGA, IR and electronic spectra. All the compounds are 1:1 electrolyte in DMF. The Cu(II ion is square-planar while metal ions in the anionic moiety acquire their usual tetrahedral arrangement. On the basis of these studies it is concluded that anionic moiety is electrically stabilized by its cationic counterpart.

  11. Alveolar epithelial type II cells induce T cell tolerance to specific antigen

    DEFF Research Database (Denmark)

    Lo, Bernice; Hansen, Søren; Evans, Kathy

    2008-01-01

    The lungs face the immunologic challenge of rapidly eliminating inhaled pathogens while maintaining tolerance to innocuous Ags. A break in this immune homeostasis may result in pulmonary inflammatory diseases, such as allergies or asthma. The observation that alveolar epithelial type II cells (Type...... II) constitutively express the class II MHC led us to hypothesize that Type II cells play a role in the adaptive immune response. Because Type II cells do not express detectable levels of the costimulatory molecules CD80 and CD86, we propose that Type II cells suppress activation of naive T cells...

  12. Collagen type II enhances chondrogenesis in adipose tissue-derived stem cells by affecting cell shape

    NARCIS (Netherlands)

    Lu, Z.; Doulabi, B.Z.; Huang, C.; Bank, R.A.; Helder, M.N.

    2010-01-01

    Ideally, biomaterials have inductive properties, favoring specific lineage differentiation. For chondrogenic induction, these properties have been attributed to collagen type II. However, the underlying mechanisms are largely unknown. This study aimed to investigate whether collagen type II favors

  13. Collagen Type II Enhances Chondrogenesis in Adipose Tissue-Derived Stem Cells by Affecting Cell Shape

    NARCIS (Netherlands)

    Lu, ZuFu; Doulabi, Behrouz Zandieh; Huang, ChunLing; Bank, Ruud A.; Helder, Marco N.

    Ideally, biomaterials have inductive properties, favoring specific lineage differentiation. For chondrogenic induction, these properties have been attributed to collagen type II. However, the underlying mechanisms are largely unknown. This study aimed to investigate whether collagen type II favors

  14. Flux-flow noise in type II superconductors

    International Nuclear Information System (INIS)

    Choe, H.M.; Ziel, A. van der

    1976-01-01

    This paper discusses flux-flow noise in type II superconductors. A theoretical expression is given for flux-flow noise in a rectangular sample with two probes, and compared with earlier models; the differences are not very large. Experiments give no flicker noise below 20 μW/mm 2 dissipation at 4.2 K, whereas much larger dissipations can be tolerated below the lambda temperature before flicker noise sets in. The shape of the spectrum at elevated frequencies is of the 1/f type, as predicted by the theory, followed by a probe size effect at still higher frequencies. The noise is much larger than would be expected from single fluxoids; this is caused by the flux bundle effect which, in turn, is due to pinning and fluxoid interaction. The size of the flux bundles can be determined from the data, it decreases with increasing current. (Auth.)

  15. Exotic dual of type II double field theory

    Directory of Open Access Journals (Sweden)

    Eric A. Bergshoeff

    2017-04-01

    Full Text Available We perform an exotic dualization of the Ramond–Ramond fields in type II double field theory, in which they are encoded in a Majorana–Weyl spinor of O(D,D. Starting from a first-order master action, the dual theory in terms of a tensor–spinor of O(D,D is determined. This tensor–spinor is subject to an exotic version of the (self-duality constraint needed for a democratic formulation. We show that in components, reducing O(D,D to GL(D, one obtains the expected exotically dual theory in terms of mixed Young tableaux fields. To this end, we generalize exotic dualizations to self-dual fields, such as the 4-form in type IIB string theory.

  16. Difficulty eating and significant weight loss in joint hypermobility syndrome/Ehlers-Danlos syndrome, hypermobility type.

    Science.gov (United States)

    Baeza-Velasco, Carolina; Van den Bossche, Thomas; Grossin, Daniel; Hamonet, Claude

    2016-06-01

    Joint Hypermobility Syndrome, also known as Ehlers-Danlos Syndrome Hypermobility Type (JHS/EDS-HT), is a heritable disorder of connective tissue, common but poorly known by the medical community. Although generalized joint hypermobility and fragility of tissues have been described as core features, recent research highlights the multisystemic nature of JHS/EDS-HT, which presents with a wide range of articular and extra-articular symptoms. Among these, gastrointestinal problems, temporomandibular disorders, and smell and taste abnormalities are common among those affected, having significant implications for eating. The present work reviews the literature linking JHS/EDS-HT and eating problems. Two illustrative case reports, in which JHS/EDS-HT manifestations contribute to developing and maintaining disturbed eating behaviors and significant weight loss, are presented.

  17. [The alpha-herpesviridae in dermatology : Herpes simplex virus types I and II. German version].

    Science.gov (United States)

    El Hayderi, L; Rübben, A; Nikkels, A F

    2017-03-01

    This review on herpes simplex virus type I and type II (HSV-I, HSV-II) summarizes recent developments in clinical manifestations and treatment interventions for primary and recurrent orolabial and genital herpes, as well as those regarding vaccination issues. Among the clinical presentations, the relationship between pyogenic granuloma and chronic HSV-I infection; HSV-related folliculitis; verrucous HSV-I and HSV-II lesions; the role of recurrent HSV-I infection in burning mouth syndrome; HSV-I and HSV-II infection of the periareolar area; zosteriform HSV; the "knife-cut sign"; and the preferential colonization and infection of preexisting dermatoses by HSV-I or HSV-II are discussed. The usual antiviral treatment regimens for primary and recurrent orolabial and genital herpes are compared to short-term and one-day treatment options. New anti-HSV-I and anti-HSV-II agents include amenavir, pritelivir, brincidofovir, valomaciclovir, and FV-100. Therapeutic or preventive vaccination against HSV-I and HSV-II infections still remains a highly desirable treatment aim, which, unfortunately, has no clinically relevant applications to date.

  18. Anisometropic amblyopia in a case of type 2 Waardenburg syndrome.

    Science.gov (United States)

    Akal, Ali; Göncü, Tugba; Boyaci, Nurefsan; Yılmaz, Ömer Faruk

    2013-12-18

    This study presents a case of an 8-year-old boy with iris heterochromia and anisometropic amblyopia who was diagnosed with Waardenburg syndrome (WS) type 2. An ophthalmic examination revealed iris heterochromia and anisometropic amblyopia in our patient. In the systemic examination, a white forelock and vitiligo on the arms and body were observed and neurosensory hearing loss was revealed, for which the patient used hearing aids. Identification and typing of patients with WS is crucial to address neurosensory hearing loss, glaucoma and fundus changes. While it might be challenging to communicate with a patient with speech and hearing problems, visual acuity should be examined carefully and probable amblyopia should be identified. Anterior segment changes and signs of glaucoma should also be evaluated in detail.

  19. Gravitational Field Shielding by Scalar Field and Type II Superconductors

    Directory of Open Access Journals (Sweden)

    Zhang B. J.

    2013-01-01

    Full Text Available The gravitational field shielding by scalar field and type II superconductors are theoret- ically investigated. In accord with the well-developed five-dimensional fully covariant Kaluza-Klein theory with a scalar field, which unifies the Einsteinian general relativity and Maxwellian electromagnetic theory, the scalar field cannot only polarize the space as shown previously, but also flatten the space as indicated recently. The polariza- tion of space decreases the electromagnetic field by increasing the equivalent vacuum permittivity constant, while the flattening of space decreases the gravitational field by decreasing the equivalent gravitational constant. In other words, the scalar field can be also employed to shield the gravitational field. A strong scalar field significantly shield the gravitational field by largely decreasing the equivalent gravitational constant. According to the theory of gravitational field shielding by scalar field, the weight loss experimentally detected for a sample near a rotating ceramic disk at very low tempera- ture can be explained as the shielding of the Earth gravitational field by the Ginzburg- Landau scalar field, which is produced by the type II superconductors. The significant shielding of gravitational field by scalar field produced by superconductors may lead to a new spaceflight technology in future.

  20. The black hole interior and the type II Weyl fermions

    Science.gov (United States)

    Zubkov, M. A.

    2018-03-01

    It was proposed recently that the black hole may undergo a transition to the state, where inside the horizon the Fermi surface is formed that reveals an analogy with the recently discovered type II Weyl semimetals. In this scenario, the low energy effective theory outside of the horizon is the Standard Model, which describes excitations that reside near a certain point P(0) in momentum space of the hypothetical unified theory. Inside the horizon the low energy physics is due to the excitations that reside at the points in momentum space close to the Fermi surface. We argue that those points may be essentially distant from P(0) and, therefore, inside the black hole the quantum states are involved in the low energy dynamics that are not described by the Standard Model. We analyze the consequences of this observation for the physics of the black holes and present the model based on the direct analogy with the type II Weyl semimetals, which illustrates this pattern.

  1. Vitamin D - Dependent Rickets, Type II Case Report

    Science.gov (United States)

    Azemi, Mehmedali; Berisha, Majlinda; Ismaili-Jaha, Vlora; Kolgeci, Selim; Hoxha, Rina; Grajçevci-Uka, Violeta; Hoxha-Kamberi, Teuta

    2014-01-01

    Aim: The aim of this work the report of one case with vitamin D-dependent rickets, type II. Methods: Diagnosis has been established based on anamnesis, physical examination, laboratory findings and radiological examination. Results: A female child (age 25 months) has been hospitalized due to bone deformity, bone pain, alopecia and walking difficulties. The laboratory findings have revealed that the calcium values was low (1.20 mmol/L), phosphates in the reference value (1.30 mmol/L) the alkaline phosphatase value was quite high (852 IU/L), high value of parathyroid hormone (9.21 pmol/L), normal value of 25- hydroxyvitamin D, whereas the values of 1,25-dihydroxyvitamin D was high (185 μmol/L). Radiographic changes were evident and typical in the distal metaphysis of radius and ulna as well as in the bones of lower limbs (distal metaphysis of femur and proximal metaphysis of tibia and fibula). After treatment with calcium and calcitriol, the above mentioned clinical manifestations, laboratory test values and the radiographic changes in bones withdrew. Conclusions: Vitamin D-dependent rickets, type II is a rare genetic recessive disease, and its treatment includes a constant use of calcium and calcitriol. PMID:24757409

  2. Characterization of hearing loss in aged type II diabetics

    Science.gov (United States)

    Frisina, Susan T.; Mapes, Frances; Kim, SungHee; Frisina, D. Robert; Frisina, Robert D.

    2009-01-01

    Presbycusis – age-related hearing loss – is the number one communicative disorder and a significant chronic medical condition of the aged. Little is known about how type II diabetes, another prevalent age-related medical condition, and presbycusis interact. The present investigation aimed to comprehensively characterize the nature of hearing impairment in aged type II diabetics. Hearing tests measuring both peripheral (cochlea) and central (brainstem and cortex) auditory processing were utilized. The majority of differences between the hearing abilities of the aged diabetics and their age-matched controls were found in measures of inner ear function. For example, large differences were found in pure-tone audiograms, wideband noise and speech reception thresholds, and otoacoustic emissions. The greatest deficits tended to be at low frequencies. In addition, there was a strong tendency for diabetes to affect the right ear more than the left. One possible interpretation is that as one develops presbycusis, the right ear advantage is lost, and this decline is accelerated by diabetes. In contrast, auditory processing tests that measure both peripheral and central processing showed fewer declines between the elderly diabetics and the control group. Consequences of elevated blood sugar levels as possible underlying physiological mechanisms for the hearing loss are discussed. PMID:16309862

  3. Isolation and molecular characterization of type I and type II feline coronavirus in Malaysia.

    Science.gov (United States)

    Amer, Alazawy; Siti Suri, Arshad; Abdul Rahman, Omar; Mohd, Hair Bejo; Faruku, Bande; Saeed, Sharif; Tengku Azmi, Tengku Ibrahim

    2012-11-21

    Feline infectious peritonitis virus (FIPV) and feline enteric coronavirus (FECV) are two important coronaviruses of domestic cat worldwide. Although FCoV is prevalent among cats; the fastidious nature of type I FCoV to grow on cell culture has limited further studies on tissue tropism and pathogenesis of FCoV. While several studies reported serological evidence for FCoV in Malaysia, neither the circulating FCoV isolated nor its biotypes determined. This study for the first time, describes the isolation and biotypes determination of type I and type II FCoV from naturally infected cats in Malaysia. Of the total number of cats sampled, 95% (40/42) were RT-PCR positive for FCoV. Inoculation of clinical samples into Crandell feline kidney cells (CrFK), and Feline catus whole fetus-4 cells (Fcwf-4), show cytopathic effect (CPE) characterized by syncytial cells formation and later cell detachment. Differentiation of FCoV biotypes using RT-PCR assay revealed that, 97.5% and 2.5% of local isolates were type I and type II FCoV, respectively. These isolates had high sequence homology and phylogenetic similarity with several FCoV isolates from Europe, South East Asia and USA. This study reported the successful isolation of local type I and type II FCoV evident with formation of cytopathic effects in two types of cell cultures namely the CrFK and Fcwf-4 , where the later cells being more permissive. However, the RT-PCR assay is more sensitive in detecting the antigen in suspected samples as compared to virus isolation in cell culture. The present study indicated that type I FCoV is more prevalent among cats in Malaysia.

  4. Isolation and molecular characterization of type I and type II feline coronavirus in Malaysia

    Directory of Open Access Journals (Sweden)

    Amer Alazawy

    2012-11-01

    Full Text Available Abstract Background Feline infectious peritonitis virus (FIPV and feline enteric coronavirus (FECV are two important coronaviruses of domestic cat worldwide. Although FCoV is prevalent among cats; the fastidious nature of type I FCoV to grow on cell culture has limited further studies on tissue tropism and pathogenesis of FCoV. While several studies reported serological evidence for FCoV in Malaysia, neither the circulating FCoV isolated nor its biotypes determined. This study for the first time, describes the isolation and biotypes determination of type I and type II FCoV from naturally infected cats in Malaysia. Findings Of the total number of cats sampled, 95% (40/42 were RT-PCR positive for FCoV. Inoculation of clinical samples into Crandell feline kidney cells (CrFK, and Feline catus whole fetus-4 cells (Fcwf-4, show cytopathic effect (CPE characterized by syncytial cells formation and later cell detachment. Differentiation of FCoV biotypes using RT-PCR assay revealed that, 97.5% and 2.5% of local isolates were type I and type II FCoV, respectively. These isolates had high sequence homology and phylogenetic similarity with several FCoV isolates from Europe, South East Asia and USA. Conclusions This study reported the successful isolation of local type I and type II FCoV evident with formation of cytopathic effects in two types of cell cultures namely the CrFK and Fcwf-4 , where the later cells being more permissive. However, the RT-PCR assay is more sensitive in detecting the antigen in suspected samples as compared to virus isolation in cell culture. The present study indicated that type I FCoV is more prevalent among cats in Malaysia.

  5. Type I and type II residual stress in iron meteorites determined by neutron diffraction measurements

    Science.gov (United States)

    Caporali, Stefano; Pratesi, Giovanni; Kabra, Saurabh; Grazzi, Francesco

    2018-04-01

    In this work we present a preliminary investigation by means of neutron diffraction experiment to determine the residual stress state in three different iron meteorites (Chinga, Sikhote Alin and Nantan). Because of the very peculiar microstructural characteristic of this class of samples, all the systematic effects related to the measuring procedure - such as crystallite size and composition - were taken into account and a clear differentiation in the statistical distribution of residual stress in coarse and fine grained meteorites were highlighted. Moreover, the residual stress state was statistically analysed in three orthogonal directions finding evidence of the existence of both type I and type II residual stress components. Finally, the application of von Mises approach allowed to determine the distribution of type II stress.

  6. A Sample of Light Curves of Type II-n and other Unclassified Supernova

    Science.gov (United States)

    Mock, Justin; Martin, J. C.; Hambsch, F.; Strickland, W.; Cason, A.

    2014-01-01

    It has long been speculated that there is a connection between supernova impostors and Type II-n supernovae. The modern Type II-n spectroscopic classification overlaps a great deal with Zwicky’s “Type V” supernovae, which includes several impostors. In late 2012, SN 2009ip, a known impostor, may have exploded as a Type II-n supernova. The decline from that event exhibited unusual fluctuations in brightness that are not evident in other Type II-n light curves. We present the light curves of several more recent Type II-n supernova and compare them with other published samples.

  7. Perivascular Adipose Tissue Angiotensin II Type 1 Receptor Promotes Vascular Inflammation and Aneurysm Formation.

    Science.gov (United States)

    Sakaue, Tomoki; Suzuki, Jun; Hamaguchi, Mika; Suehiro, Chika; Tanino, Akiko; Nagao, Tomoaki; Uetani, Teruyoshi; Aono, Jun; Nakaoka, Hirotomo; Kurata, Mie; Sakaue, Tomohisa; Okura, Takafumi; Yasugi, Takumi; Izutani, Hironori; Higaki, Jitsuo; Ikeda, Shuntaro

    2017-10-01

    Perivascular adipose tissue exhibits characteristics of active local inflammation, which contributes to the development of atherosclerotic disease as a complication of obesity/metabolic syndrome. However, the precise role of perivascular adipose tissue in the progression of abdominal aortic aneurysm remains unclear. To test the hypothesis that genetic deletion of angiotensin II type 1a (AT 1a ) receptor in perivascular visceral adipose tissue (VAT) can attenuate aortic aneurysm formation in apolipoprotein E-deficient (ApoE -/- ) mice, we performed adipose tissue transplantation experiments by using an angiotensin II-induced aneurysm murine model, in which we transplanted VAT from ApoE -/- or ApoE -/- AT 1a -/- donor mice onto the abdominal aorta of ApoE -/- recipient mice. Compared with ApoE -/- VAT transplantation, ApoE -/- AT 1a -/- VAT transplantation markedly attenuated aortic aneurysm formation, macrophage infiltration, and gelatinolytic activity in the abdominal aorta. AT 1a receptor activation led to the polarization of macrophages in perivascular VAT toward the proinflammatory phenotype. Moreover, osteopontin expression and gelatinolytic activity were considerably lower in ApoE -/- AT 1a -/- perivascular VAT than in ApoE -/- perivascular VAT, and angiotensin II-induced osteopontin secretion from adipocytes was eliminated after deletion of AT 1a receptor in adipocytes. Notably, induction of macrophage migration by conditioned medium from angiotensin II-stimulated wild-type adipocytes was suppressed by treatment with an osteopontin-neutralizing antibody, and ApoE -/- OPN -/- VAT transplantation more potently attenuated aortic aneurysm formation than ApoE -/- VAT transplantation. Our findings indicate a previously unrecognized effect of AT 1a receptor in perivascular VAT on the pathogenesis of abdominal aortic aneurysm. © 2017 American Heart Association, Inc.

  8. Metallicity from Type II supernovae from the (i)PTF

    International Nuclear Information System (INIS)

    Taddia, F.; Moquist, P.; Sollerman, J.; Rubin, A.; Leloudas, G.

    2016-01-01

    Type IIP supernovae (SNe IIP) have recently been proposed as metallicity (Z) probes. The spectral models of Dessart et al. (2014, MNRAS, 440, 1856) showed that the pseudo-equivalent width of Fe ii λ5018 (pEW 5018 ) during the plateau phase depends on the primordial Z, but there was a paucity of SNe IIP exhibiting pEW 5018 that were compatible with Z < 0.4 Z ⊙ . This lack might be due to some physical property of the SN II population or to the fact that those SNe have been discovered in luminous, metal-rich targeted galaxies. In this paper, we use SN II observations from the untargeted (intermediate) Palomar Transient Factory [(i)PTF] survey, aiming to investigate the pEW 5018 distribution of this SN population and, in particular, to look for the presence of SNe II at lower Z. We perform pEW 5018 measurements on the spectra of a sample of 39 (i)PTF SNe II, selected to have well-constrained explosion epochs and light-curve properties. Based on the comparison with the pEW 5018 spectral models, we subgrouped our SNe into four Z bins from Z ≈ 0.1 Z ⊙ up to Z ≈ 2 Z ⊙ . We also independently investigated the Z of the hosts by using their absolute magnitudes and colors and, in a few cases, using strong-line diagnostics from spectra. We searched for possible correlations between SN observables, such as their peak magnitudes and the Z inferred from pEW 5018 . We found 11 events with pEW 5018 that were small enough to indicate Z ≈ 0.1 Z ⊙ . The trend of pEW 5018 with Z matches the Z estimates obtained from the host-galaxy photometry, although the significance of the correlation is weak. Finally, we also found that SNe with brighter peak magnitudes have smaller pEW 5018 and occur at lower Z.

  9. Magnetoexcitons in type-II semiconductor quantum dots

    Science.gov (United States)

    Fuster, Gonzalo; Barticevic, Zdenka; Pacheco, Monica; Oliveira, Luiz E.

    2004-03-01

    We present a theoretical investigation of excitons in type-II semiconductor quantum dots (QD). In these systems the confinement of electrons inside the QD and the hole outside the QD produces a ring-like structure [1-2]. Recently, Ribeiro et al [3], in a magnetophotoluminescence study of type-II InP/GaAs self-assembled quantum dots, observed Aharonov-Bohm-type oscillations characteristic of the ring topology for neutral excitons. Using a simple model they have derived the groundstate hole energy as a function of the magnetic field, and obtained values for the ring parameters which are in good agreement with the measured values. However, some of the features observed experimentally, in the photoluminescence intensity, can not be well explained under that approach. In this work we present a more realistic model which considers the finite width of the ring and the electron-hole interaction included via a perturbative approach. The calculations are performed within the oneparticle formalism using the effective mass approximation. The confinement potential for electrons is modelled as the superposition of a quantum well potential along the axial direction, and a parabolic lateral confinement potential. The energies for the hole in the ring plane are calculated using the method of reference [4]. Theoretical calculations are in good agreement with the experimental results of reference [3] provided that excitonic effects are properly taken into account. References 1. A.O. Govorov et al., Physica E 13 , 297 (2002). 2. K. L. Janssens et al. Phys. Rev B64, 155324 (2001), and Phys. Rev. B66, 075314 (2002). 3. E. Ribeiro, G. Medeiros-Ribeiro, and W.Carvalho Jr., and A.O. Govorov, condmat/0304092 (2003). 4. Z. Barticevic, G. Fuster, and M. Pacheco,Phys. Rev. B 65, 193307 (2002).

  10. FOOD ALLERGY AND ORAL ALLERGY SYNDROME. Part II. A review.

    Directory of Open Access Journals (Sweden)

    Miglena Balcheva

    2013-09-01

    Full Text Available Food allergies differ from other allergic diseases through the variety of symptoms (some of them serious they induce – skin and mucosal symptoms, digestive and respiratory symptoms, anaphylaxis and anaphylactic shock. The most interesting one for us, as dentists, is oral allergy syndrome. Diagnosis associates skin testing, specific IgE assays and, in most cases, oral challenge tests. Treatment is difficult and depends on the patient’s symptoms. Very important for our everyday practice is the existence of cross reactions between foods and specific medical and dental products and materials.

  11. Delineation and Diagnostic Criteria of Oral-Facial-Digital Syndrome Type VI

    NARCIS (Netherlands)

    Poretti, Andrea; Vitiello, Giuseppina; Hennekam, Raoul C. M.; Arrigoni, Filippo; Bertini, Enrico; Borgatti, Renato; Brancati, Francesco; D'Arrigo, Stefano; Faravelli, Francesca; Giordano, Lucio; Huisman, Thierry A. G. M.; Iannicelli, Miriam; Kluger, Gerhard; Kyllerman, Marten; Landgren, Magnus; Lees, Melissa M.; Pinelli, Lorenzo; Romaniello, Romina; Scheer, Ianina; Schwarz, Christoph E.; Spiegel, Ronen; Tibussek, Daniel; Valente, Enza Maria; Boltshauser, Eugen

    2012-01-01

    Oral-Facial-Digital Syndrome type VI (OFD VI) represents a rare phenotypic subtype of Joubert syndrome and related disorders (JSRD). In the original report polydactyly, oral findings, intellectual disability, and absence of the cerebellar vermis at post-mortem characterized the syndrome.

  12. Autosomal recessive long QT syndrome, type 1 in eight families from Saudi Arabia

    NARCIS (Netherlands)

    Bdier, Amnah Y.; Al-Ghamdi, Saleh; Verma, Prashant K.; Dagriri, Khalid; Alshehri, Bandar; Jiman, Omamah A.; Ahmed, Sherif E.; Wilde, Arthur A. M.; Bhuiyan, Zahurul A.; Al-Aama, Jumana Y.

    2017-01-01

    One of the most common primary cardiac arrhythmia syndromes is autosomal dominant long QT syndrome, type 1 (LQT1), chiefly caused by mono-allelic mutations in the KCNQ1 gene. Bi-allelic mutations in the KCNQ1 gene are causal to Jervell and Lange-Nielsen syndrome (JLNS), characterized by severe and

  13. Type V Pouch Colon, Prune Belly Syndrome, and Congenital Anterior Urethrocutaneous Fistula.

    Science.gov (United States)

    Raj, Prince; Birua, Hirendra

    2017-01-01

    Congenital pouch colon (CPC) or short colon syndrome is a rare type of anorectal malformation(ARM). Type V is the rarest form of CPC. We present a 1-day-old male child with type V CPC with prune belly syndrome and congenital anterior urethrocutaneous fistula (CAUF).

  14. Chronic pain in hypermobility syndrome and Ehlers–Danlos syndrome (hypermobility type: it is a challenge

    Directory of Open Access Journals (Sweden)

    Scheper MC

    2015-08-01

    Full Text Available Mark C Scheper,1,2 Janneke E de Vries,1–3 Jeanine Verbunt,3,4 Raoul HH Engelbert1,2 1School of Physiotherapy, Amsterdam University of Applied Sciences, Amsterdam, 2Department of Rehabilitation, Academic Medical Center, University of Amsterdam, Amsterdam, 3Department of Rehabilitation Medicine, CAPHRI School for Public Health and Primary Care, Maastricht University, Maastricht; 4Adelante, Center of expertise in Rehabilitation and Audiology, Hoensbroek, the Netherlands Abstract: Generalized joint hypermobility (GJH is highly prevalent among patients diagnosed with chronic pain. When GJH is accompanied by pain in ≥4 joints over a period ≥3 months in the absence of other conditions that cause chronic pain, the hypermobility syndrome (HMS may be diagnosed. In addition, GJH is also a clinical sign that is frequently present in hereditary diseases of the connective tissue, such as the Marfan syndrome, osteogenesis imperfecta, and the Ehlers–Danlos syndrome. However, within the Ehlers–Danlos spectrum, a similar subcategory of patients having similar clinical features as HMS but lacking a specific genetic profile was identified: Ehlers–Danlos syndrome hypermobility type (EDS-HT. Researchers and clinicians have struggled for decades with the highly diverse clinical presentation within the HMS and EDS-HT phenotypes (Challenge 1 and the lack of understanding of the pathological mechanisms that underlie the development of pain and its persistence (Challenge 2. In addition, within the HMS/EDS-HT phenotype, there is a high prevalence of psychosocial factors, which again presents a difficult issue that needs to be addressed (Challenge 3. Despite recent scientific advances, many obstacles for clinical care and research still remain. To gain further insight into the phenotype of HMS/EDS-HT and its mechanisms, clearer descriptions of these populations should be made available. Future research and clinical care should revise and create consensus on the

  15. Association of Adipokine Resistin With Homeostasis Model Assessment of Insulin Resistance in Type II Diabetes

    Directory of Open Access Journals (Sweden)

    Sokhanguei

    2015-03-01

    Full Text Available Background Resistin is a recently discovered signal molecule that has been linked to obesity, type II diabetes mellitus (T2DM and metabolic syndrome. Objectives This study aimed to assess whether serum resistin is associated with insulin resistance and glucose concentration in males with T2DM. Patients and Methods Thirty two adult non-trained males with type II diabetes, 34-48 years old and 88-110 kg of body weight, participated in this study by accessible sampling. Fasting blood samples were collected from all participants in order to measure serum resistin, insulin and glucose concentration. Homeostasis Model Assessment of Insulin Resistance (HOMA-IR was calculated using fasting insulin and glucose. Relations between variables were determined by Pearson correlations. Results We found that serum resistin had a positive significant correlation with insulin resistance (P = 0.000, r = 0.64. No significant correlation was found between serum resistin and fasting glucose concentration in the studied patients (P = 0.21, r = 0.23. Conclusions Based on these data, we can argue that circulating glucose concentration is not directly affected by serum resistin in T2DM. It seems that resistin affects glucose indirectly, through insulin resistance.

  16. Molecular pathogenesis of long QT syndrome type 1

    Directory of Open Access Journals (Sweden)

    Jie Wu, PhD

    2016-10-01

    Full Text Available Long QT syndrome type 1 (LQT1 is a subtype of a congenital cardiac syndrome caused by mutation in the KCNQ1 gene, which encodes the α-subunit of the slow component of delayed rectifier K+ current (IKs channel. Arrhythmias in LQT1 are characterized by prolongation of the QT interval on ECG, as well as the occurrence of life-threatening cardiac events, frequently triggered by adrenergic stimuli (e.g., physical or emotional stress. During the past two decades, much advancement has been made in understanding the molecular pathogenesis underlying LQT1. Uncovering the genotype-phenotype correlations in LQT1 is of clinical importance to better understand the gene-specific differences that may influence the propensity for developing life-threatening arrhythmias under specific conditions. Elucidation of these mechanisms will also help to improve the diagnosis and management of this cardiac disorder based on gene-specific considerations. This review describes the current medical consensus and recent developments regarding the molecular pathogenesis of LQT1 and provides a novel insight into the adrenergic regulation of this disease.

  17. Distribution of magnetic field in type II superconductors

    International Nuclear Information System (INIS)

    Castro, J.L. de.

    1986-09-01

    The magnetie field penetration profile, in type II superconductor, has studied in specially designed cylindrical samples. The samples consist of alternated thick layers ( > 30 μm ) of niobium and copper deposited, by electron-beam evaporation or electro-chemical deposition, on cylindric core of either niobium or copper. The magnetization curves, the magnetic susceptibility and the differential susceptibility for small hysteresis loop ( H c1 c2 ) were measured for all the samples between 4. 2 and 9.5 K. These measurements, done with flux pinned and without, show some peculiar descontinuities and inflections which seems to resemble the samples shape. A simple phenonenological extension of Bean's critical state model was applied to these results, giving a resonable qualitative agreement. Also, a more elaborated theoretical model was improve which could give more quantitative fitting. (author) [pt

  18. Neutrinos from Choked Jets Accompanied by Type-II Supernovae

    Science.gov (United States)

    He, Hao-Ning; Kusenko, Alexander; Nagataki, Shigehiro; Fan, Yi-Zhong; Wei, Da-Ming

    2018-04-01

    The origin of the IceCube neutrinos is still an open question. Upper limits from diffuse gamma-ray observations suggest that the neutrino sources are either distant or hidden from gamma-ray observations. It is possible that the neutrinos are produced in jets that are formed in core-collapsing massive stars and fail to break out, the so-called choked jets. We study neutrinos from the jets choked in the hydrogen envelopes of red supergiant stars. Fast photo-meson cooling softens the neutrino spectrum, making it hard to explain the PeV neutrinos observed by IceCube in a one-component scenario, but a two-component model can explain the spectrum. Furthermore, we predict that a newly born jet-driven type-II supernova may be observed to be associated with a neutrino burst detected by IceCube.

  19. Clinical evaluation of Dyslipidemia among type II diabetic patients at Public hospital Penang, Malaysia

    Directory of Open Access Journals (Sweden)

    Zaki Nada F

    2010-11-01

    Full Text Available Abstract Background Global views emphasize the need for early; effective intervention against the atherogenic dyslipidemia associated with type 2 diabetes and metabolic syndrome to reduce the risk of premature cardiovascular diseases. Our aim was to determine the clinical practices and compliance among dyslipidemia with type II diabetes and hypertension in multiracial society. Method(s Study was carried out in out-patient department of General hospital Penang over a period of ten months (Jan - Oct 2008. Study reflects the retrospective data collection covering a period of three years from Jan 2005 - Dec 2007. Universal sampling technique was used to select all the patients' undergone treatment for diabetes type II and dyslipidemia. All the concerned approvals were obtained from Clinical research Committee (CRC. Data was analyzed by using SPSS 15®. Result(s A total of 501 diabetes type 2 patients with dyslipidemia were identified in this study. The demographic data showed that 55.9% (n = 280 were female patients and 44.1% (n = 221 were males. Patients on combination therapy of metformin with other antidiabetic agent were 79%, while 21% were on monotherapy. Lovastatin was received as monotherapy in 83% of study population, while only 17% were on combination with gemfibrozil. Means of FPG and lipid profile were reduced from the initial (2005 to the latest level (2007 significantly (p Conclusion Metformin and lovastatin use among patients of type 2 diabetes and dyslipidemia is significantly improved the clinical outcomes. No significant association of metformin or lovastatin is found against the hypertension. Metformin and calcium channel blocker combination therapy was found to be the best choice in the co-treatment of diabetes and hypertension.

  20. Glycogen storage disease type II (Pompe disease in children

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    A. N. Semyachkina

    2014-01-01

    Full Text Available The paper gives the data available in the literature, which reflect the manifestations, diagnosis, and current treatments of the rare (orphan inherited disease glycogen storage disease type II or Pomp disease in children, as well as its classification. The infant form is shown to be most severe, resulting in death from cardiovascular or pulmonary failure generally within the first year of a child’s life. Emphasis is laid on major difficulties in the differential and true diagnosis of this severe disease. Much attention is given to the new pathogenetic treatment — genetically engineered enzyme replacement drug Myozyme®. The authors describe their clinical case of a child with the juvenile form of glycogen storage disease type II (late-onset Pompe disease. Particular emphasis is laid on the clinical symptoms of the disease and its diagnostic methods, among which the morphological analysis of a muscle biopsy specimen by light and electron microscopies, and enzyme and DNA diagnoses are of most importance. The proband was found to have significant lysosomal glycogen accumulation in the muscle biopsy specimen, reduced lymphocyte acid α-1,4-glucosidase activity to 4,2 nM/mg/h (normal value, 13,0—53,6 nM/mg/h, described in the HGMD missense mutation database from 1000 G>A p.Gly334er of the GAA in homozygous state, which verified the diagnosis of Pompe disease. 

  1. Functional assessment of feet of patients with type II diabetes

    Directory of Open Access Journals (Sweden)

    Vinicius Saura Cardoso

    2014-09-01

    Full Text Available Objective: To evaluate the incidence of functional changes and risk of developing ulcers in type II diabetic patients seen in Primary Healthcare Units (Unidades Básicas de Saúde- UBS. Methods: A cross-sectional, quantitative and descriptive study comprising 80patients with type II diabetes mellitus (DM aged between 41 to 85 years and attended inthe UBS in the city of Parnaíba-PI. Volunteers responded to the identification form and theMichigan Neuropathy Screening Instrument (MNSI, followed by an evaluation of the lowerlimbs, as follows: achilles and patellar reflex, palpation of arterial pulses (dorsalis pedis and posterior tibial, tactile sensitivity (Monofilament 10g and vibration sensitivity (128Hz tuning fork; identification of the presence of changes such as ingrown toenails, calluses,claw toes and hair loss. Finally, using the information acquired from the assessment, subjects were classified according to the risk of developing wounds. Results: The sample consisted of 76 diabetic patients, with average age of 63.8 ± 10.4 years, 63 (82.8% were female, mean diagnostic time 8.8 ± 7.2 years, average body mass index (BMI 28.2 ± 5.4 kg/m2, with 15.7% of the sample being smokers. The myotatic reflexes and arterial pulses were reduced. Tactile sensitivity was identified in 81.5% and 13.1% did not feel the vibration of the tuning fork. The most dominant changes identified were calluses, 76.3% (n = 58. Risk level 2 of developing ulcers stood out, 52.6% (n = 40. Conclusion: Functional changes were detected in the sample and a classification of risk 2 for developing wounds was found in more than 50% of the assessed patients. doi:http://dx.doi.org/10.5020/18061230.2013.p563

  2. Ehlers-Danlos Syndrome Type VIIC: A Mexican Case Report

    Directory of Open Access Journals (Sweden)

    Ana Rosa Rincón-Sánchez

    2012-04-01

    Full Text Available Ehlers-Danlos syndrome (EDS is a heterogeneous group of heritable connective tissue disorders whose primary clinical features include soft and extensible skin, articular hypermobility and tissue fragility. EDS type VIIC or ‘human dermatosparaxis’ is an autosomal recessive disease characterized by severe skin fragility and sagging redundant skin (major criteria with a soft, doughy texture, easy bruising, premature rupture of fetal membranes and large hernias (minor criteria. Dermatosparaxis (meaning ‘tearing of skin’, which has been described in several non-human species, is a disorder of the connective tissue resulting from a deficiency of the enzyme that cleaves the registration peptide off the N-terminal end of collagen after it has been secreted from fibroblasts. We describe a Mexican case from consanguineous parents with all the phenotypical characteristics previously described, plus skeletal abnormalities.

  3. The effect of recombinant human iduronate-2-sulfatase (Idursulfase on growth in young patients with mucopolysaccharidosis type II.

    Directory of Open Access Journals (Sweden)

    Zbigniew Żuber

    Full Text Available Mucopolysaccharidosis type II (MPS II; Hunter syndrome is an X-linked, recessive, lysosomal storage disorder caused by deficiency of iduronate-2-sulfatase. Early bone involvement leads to decreased growth velocity and short stature in nearly all patients. Our analysis aimed to investigate the effects of enzyme replacement therapy (ERT with idursulfase (Elaprase on growth in young patients with mucopolysaccharidosis type II. Analysis of longitudinal anthropometric data of MPS II patients (group 1, n = 13 who started ERT before 6 years of age (range from 3 months to 6 years, mean 3.6 years, median 4 years was performed and then compared with retrospective analysis of data for MPS II patients naïve to ERT (group 2, n = 50. Patients in group 1 received intravenous idursulfase at a standard dose of 0.58 mg/kg weekly for 52-288 weeks. The course of average growth curve for group 1 was very similar to growth pattern in group 2. The average value of body height in subsequent years in group 1 was a little greater than in group 2, however, the difference was not statistically significant. In studied patients with MPS II, idursulfase did not appear to alter the growth patterns.

  4. The immunoregulatory role of type I and type II NKT cells in cancer and other diseases

    Science.gov (United States)

    Terabe, Masaki; Berzofsky, Jay A.

    2014-01-01

    NKT cells are CD1d-restricted T cells that recognize lipid antigens. They also have been shown to play critical roles in the regulation of immune responses. In the immune responses against tumors, two subsets of NKT cells, type I and type II, play opposing roles and cross-regulate each other. As members of both the innate and adaptive immune systems, which form a network of multiple components, they also interact with other immune components. Here we discuss the function of NKT cells in tumor immunity and their interaction with other regulatory cells, especially CD4+CD25+Foxp3+ regulatory T cells. PMID:24384834

  5. The prognostic value of dividing epithelial ovarian cancer into type I and type II tumors based on pathologic characteristics

    DEFF Research Database (Denmark)

    Prahm, Kira Philipsen; Karlsen, Mona Aarenstrup; Høgdall, Estrid

    2015-01-01

    OBJECTIVE: To investigate the prognostic significance of dividing epithelial ovarian cancer (EOC) in type I and type II tumors based on pathologic variables. METHODS: We used the Danish Gynecologic Cancer Database to identify all patients diagnosed with EOC from 2005 to 2012. Information...... on histologic type and grade were used to classify tumors as either type I or type II. Death, and several prognostic factors were used in the multivariate Cox regression, and Landmark analysis was used to estimate hazard ratios of all-cause mortality. RESULTS: Among 2660 patients diagnosed with EOC, 735 were...... categorized as type I tumors, and 1925 as type II tumors. Patients with type II EOC were more frequently diagnosed in late FIGO stages (stages III-IV) than patients with type I EOC (78.1% vs. 32.1% respectively; P

  6. Complex regional pain syndrome type i. An analysis of 7 cases in children.

    Science.gov (United States)

    Pedemonte Stalla, V; Medici Olaso, C; Kanopa Almada, V; Gonzalez Rabelino, G

    2015-01-01

    Complex regional pain syndrome (CRPS) is characterised by the presence of pain accompanied by sensory, autonomic and motor symptoms, usually preceded by a lesion or immobilisation. The clinical course is disproportionate to the initial injury in intensity and in duration. Its distribution is regional, predominantly in limbs. It is classified as type I and type II according to the absence or presence of nerve injury. We present the cases of seven children, 6 girls and 1 boy, aged 7 to 15 years. Three had a history of previous trauma. In 5 cases, the symptoms were located in the lower limbs. Time to diagnosis was between 4 and 90 days. Three patients had clinical features of anxiety and depression. Imaging and immunological studies were performed to rule out differential diagnoses in all the children. Interdisciplinary treatment was performed with physiotherapy, psychotherapy, and gabapentin or pregabalin. All patients had a good clinical outcome, with no relapses in the follow-up period (between 4 and 30 months). CRPS is frequently unrecognised in children, leading to family anxiety and unnecessary para-clinical costs. Paediatricians and paediatric neurologists should be aware of this syndrome in order to avoid delay in diagnosis, unnecessary studies, and multiple visits to specialists, with a view to providing effective treatment. Copyright © 2013 Sociedad Española de Neurología. Published by Elsevier España, S.L.U. All rights reserved.

  7. Type III Mixed Cryoglobulinemia and Antiphospholipid Syndrome in a Patient With Partial DiGeorge Syndrome

    Directory of Open Access Journals (Sweden)

    Alice D. Chang

    2006-01-01

    Full Text Available We studied a 14 year-old boy with partial DiGeorge syndrome (DGS, status post complete repair of Tetralogy of Fallot, who developed antiphospholipid syndrome (APS and type III mixed cryoglobulinemia. He presented with recurrent fever and dyspnea upon exertion secondary to right pulmonary embolus on chest computed tomography (CT. Coagulation studies revealed homozygous methylene tetrahydrofolate reductase 677TT mutations, elevated cardiolipin IgM antibodies, and elevated β2-glycoprotein I IgM antibodies. Infectious work-up revealed only positive anti-streptolysin O (ASO and anti-DNAse B titers. Autoimmune studies showed strongly positive anti-platelet IgM, elevated rheumatoid factor (RF, and positive cryocrit. Renal biopsy for evaluation of proteinuria and hematuria showed diffuse proliferative glomerulonephritis (DPGN with membranoproliferative features consistent with cryoglobulinemia. Immunofixation showed polyclonal bands. Our patient was treated successfully with antibiotics, prednisone, and mycophenolate mofetil (MMF. This is the first report of a patient with partial DGS presenting with APS and type III mixed cryoglobulinemia possibly due to Streptococcal infection.

  8. Molecular determinants on the insect sodium channel for the specific action of type II pyrethroid insecticides

    Science.gov (United States)

    Du, Yuzhe; Nomura, Yoshiko; Luo, Ningguang; Liu, Zhiqi; Lee, Jung-Eun; Khambay, Bhupinder; Dong, Ke

    2011-01-01

    Pyrethroid insecticides are classified as type I or type II based on their distinct symptomology and effects on sodium channel gating. Structurally, type II pyrethroids possess an α-cyano group at the phenylbenzyl alcohol position, which is lacking in type I pyrethroids. Both type I and type II pyrethroids inhibit deactivation consequently prolonging the opening of sodium channels. However, type II pyrethroids inhibit the deactivation of sodium channels to a greater extent than type I pyrethroids inducing much slower decaying of tail currents upon repolarization. The molecular basis of type II-specific action, however, is not known. Here we report the identification of a residue G1111 and two positively charged lysines immediately downstream of G1111 in the intracellular linker connecting domains II and III of the cockroach sodium channel that are specifically involved in the action of type II pyrethroids, but not in the action of type I pyrethroids. Deletion of G1111, a consequence of alternative splicing, reduced the sodium channel sensitivity to type II pyrethroids, but had no effect on channel sensitivity to type I pyrethroids. Interestingly, charge neutralization or charge reversal of two positively charged lysines (Ks) downstream of G1111 had a similar effect. These results provide the molecular insight into the type II-specific interaction of pyrethroids with the sodium channel at the molecular level. PMID:19022275

  9. Relative potencies of Type I and Type II pyrethroids for inhibition of spontaneous firing in neuronal networks.

    Science.gov (United States)

    Pyrethroids insecticides commonly used in pest control disrupt the normal function of voltage-sensitive sodium channels. We have previously demonstrated that permethrin (a Type I pyrethroid) and deltamethrin (a Type II pyrethroid) inhibit sodium channel-dependent spontaneous netw...

  10. Type-I and type-II topological nodal superconductors with s -wave interaction

    Science.gov (United States)

    Huang, Beibing; Yang, Xiaosen; Xu, Ning; Gong, Ming

    2018-01-01

    Topological nodal superconductors with protected gapless points in momentum space are generally realized based on unconventional pairings. In this work we propose a minimal model to realize these topological nodal phases with only s -wave interaction. In our model the linear and quadratic spin-orbit couplings along the two orthogonal directions introduce anisotropic effective unconventional pairings in momentum space. This model may support different nodal superconducting phases characterized by either an integer winding number in BDI class or a Z2 index in D class at the particle-hole invariant axes. In the vicinity of the nodal points the effective Hamiltonian can be described by either type-I or type-II Dirac equations, and the Lifshitz transition from type-I nodal phases to type-II nodal phases can be driven by external in-plane magnetic fields. We show that these nodal phases are robust against weak impurities, which only slightly renormalizes the momentum-independent parameters in the impurity-averaged Hamiltonian, thus these phases are possible to be realized in experiments with real semi-Dirac materials. The smoking-gun evidences to verify these phases based on scanning tunneling spectroscopy method are also briefly discussed.

  11. Higgs potential in the type II seesaw model

    International Nuclear Information System (INIS)

    Arhrib, A.; Benbrik, R.; Chabab, M.; Rahili, L.; Ramadan, J.; Moultaka, G.; Peyranere, M. C.

    2011-01-01

    The standard model Higgs sector, extended by one weak gauge triplet of scalar fields with a very small vacuum expectation value, is a very promising setting to account for neutrino masses through the so-called type II seesaw mechanism. In this paper we consider the general renormalizable doublet/triplet Higgs potential of this model. We perform a detailed study of its main dynamical features that depend on five dimensionless couplings and two mass parameters after spontaneous symmetry breaking, and highlight the implications for the Higgs phenomenology. In particular, we determine (i) the complete set of tree-level unitarity constraints on the couplings of the potential and (ii) the exact tree-level boundedness from below constraints on these couplings, valid for all directions. When combined, these constraints delineate precisely the theoretically allowed parameter space domain within our perturbative approximation. Among the seven physical Higgs states of this model, the mass of the lighter (heavier) CP even state h 0 (H 0 ) will always satisfy a theoretical upper (lower) bound that is reached for a critical value μ c of μ (the mass parameter controlling triple couplings among the doublet/triplet Higgses). Saturating the unitarity bounds, we find an upper bound m h 0 or approx. μ c and μ c . In the first regime the Higgs sector is typically very heavy, and only h 0 that becomes SM-like could be accessible to the LHC. In contrast, in the second regime, somewhat overlooked in the literature, most of the Higgs sector is light. In particular, the heaviest state H 0 becomes SM-like, the lighter states being the CP odd Higgs, the (doubly) charged Higgses, and a decoupled h 0 , possibly leading to a distinctive phenomenology at the colliders.

  12. [Clinical study of area of Jiangsu province of polycystic ovarian syndrome correlation distribution of traditional Chinese medicine syndrome type and improper diet].

    Science.gov (United States)

    Feng, Yu; Gao, Yue-Ping

    2014-05-01

    Polycystic ovary syndrome (PCOS) is one of the most popular diseases in obstetrics and gynecology research at internal and abroad at present, traditional Chinese medicine(TCM)in the clinical treatment of the disease have the advantage. Clinical epidemiological study of descriptive research method this research adopts investigation, observation of TCM syndromes and improper diet through 401 cases in Jiangsu Province confirmed PCOS patients, to explore the relationship between TCM syndrome type distribution and improper diet factors, and to provide the clinical basis for further etiology of this disease research. TCM syndrome type distribution of the disease is kidney deficiency, phlegm stagnation syndrome, qi stagnation and blood stasis syndrome, syndrome of dampness heat of liver channel and is composed of 4 basic syndromes and formed complex syndrome, and the composite and syndrome type (60.85%); combined with the analysis of traditional Chinese medicine dialectical, Pure empirical syndrome this disease (46.88%), followed by the actual card (45.39%), pure deficiency is rare. Improper diet factors associated with the disease, in which improper diet with different TCM syndrome type distribution significantly related. Stagnation of phlegm dampness syndrome is the main syndrome of the disease type, improper diet factors and every syndrome PCOS type distribution is as follows: the partial eclipse fatness greasy with basic syndromes of phlegm dampness stagnation of kidney deficiency syndrome, the nephrasthenia syndrome is less; eating spicy stimulation by basic syndromes of stagnation of Qi and blood stasis; eating cold people the basic certificate type of qi stagnation and blood stasis; The diet of patients are more prone to stagnation of phlegm dampness syndrome.

  13. Hyperuricaemia and the metabolic syndrome in type 2 DM

    Directory of Open Access Journals (Sweden)

    Ogbera Anthonia O

    2010-04-01

    Full Text Available Abstract Background Elevated serum uric acid levels (SUA have been associated with an increased risk of cardiovascular diseases and the metabolic syndrome (MetS and are often reported to be higher in females than in males. The aim of this report is to determine the prevalence and clinical correlates of hyperuricaemia and also to evaluate associations with the MetS in people with type 2 diabetes mellitus (DM. Methods This was a cross-sectional study conducted in people with type 2 DM in Lagos, Nigeria. Hyperuricaemia was defined by cut-off values of > 7 mg/dl for men and > 6 mg/dl for women. The diagnosis of MetS was made using the new definition by the American Heart Association and other related bodies. Clinical and biochemical parameters were compared between subjects with hyperuricaemia and normouricaemia. Statistical analysis included usage of Student's t test, Pearson correlation coefficients, multivariate regression analysis and chi square. Results 601 patients with type 2 DM aged between 34-91 years were recruited for the study. The prevalence rates of hyperuricaemia and the MetS were 25% and 60% respectively. The frequency of occurrence of hyperuricaemia was comparable in both genders (59% vs 41%, p = 0.3. Although, the prevalence of the MetS in subjects with hyperuricaemia and normouricaemia was comparable (61 vs 56%, p = 0.1, a higher proportion of hyperuricaemic subjects had 3 or more components of the Mets compared with normouricaemic subjects. Possible predictors of hyperuricaemia include central obesity, smoking and elevated serum triglycerides (TG. SUA levels were found to be positively and significantly associated with serum TG (r = 0.2, p = 0.0001 and total cholesterol (r = 13, p = 0.001. Conclusion The prevalence of hyperuricaemia in subjects with type 2 DM is comparable in both genders and possible predictors of hyperuricaemia are potentially modifiable. SUA is positively and significantly associated with serum TG and total

  14. Metabolic Syndrome and Cardiovascular Risk Factors after Hematopoietic Cell Transplantation in Severe Mucopolysaccharidosis Type I (Hurler Syndrome).

    Science.gov (United States)

    Braunlin, Elizabeth; Steinberger, Julia; DeFor, Todd; Orchard, Paul; Kelly, Aaron S

    2018-02-01

    Hematopoietic cell transplantation is a life-saving procedure, but one associated with increasing long-term cardiovascular risk requiring frequent long-term follow-up. This therapy has significantly lengthened survival in mucopolysaccharidosis type IH (Hurler syndrome), a disease with known coronary artery involvement. Metabolic syndrome-a constellation of central obesity, high blood pressure, low high-density lipoprotein cholesterol, elevated triglycerides, and fasting blood glucose-is associated with increased cardiovascular risk, and occurs when any 3 or more of these 5 components is present within a single individual. The incidence of metabolic syndrome and its components is poorly defined after transplantation for Hurler syndrome. Chart review of all long-term survivors of hematopoietic cell transplantation for Hurler syndrome ≥9 years of age for factors comprising the metabolic syndrome: obesity, high blood pressure, low high-density lipoprotein cholesterol, elevated triglycerides, and fasting blood glucose. Sixty-three patients were evaluated, 20 of whom had components of the metabolic syndrome available for review. There was no significant difference in age at transplantation, sex, number of transplants, pretransplant radiation, or percent engraftment between those with and without these data. Median follow-up after transplantation for the 20 patients with data was 14.3 years. Only 1 (5%) patient of this group fulfilled the criteria for metabolic syndrome. Fifty-three percent of the patients had 1 or more components of metabolic syndrome: the most common was high blood pressure occurring in 40%. Metabolic syndrome is uncommon in this cohort of long-term survivors of hematopoietic cell transplantation for Hurler syndrome but almost half of the patients had 1 or more components of the syndrome, with high blood pressure being the most common. Further studies are needed to develop guidelines in this diagnosis as well as other nonmalignant diseases of children

  15. Complex regional pain syndromes (CRPS type 1 validating case histories

    Directory of Open Access Journals (Sweden)

    P. Berger

    2003-01-01

    Full Text Available The treatment of patients with complex regional pain syndrome (CRPS type 1 is challenging and unpredictable as the condition presents with vascular and neuropathic symptoms after nil or even minor injury to a peripheral nerve. The condition is one of a pain and motor dysfunction. The pathophysiology is not well understood and the relief of symptoms may change from being sympathetically mediated to sympathetically independent during  the course of the disease. At any stage physiotherapy has been advocated as the corner stone and most important aspect of treatment in the rehabilitation of these individuals but unfortunately it has been difficult to execute when pain is exacerbated due to allodynia (unbearable to touch or move and hyperalgesia. Best results have been obtained if the patients are recognised and treated in the early or acute phase and it has been found that through careful assessment and analysis these patients can be recognised by previous events that have occurred in their initial case history. The treatment in the acute stage with physiotherapy modalities such as electrical stimulation and acupuncture will produce an early cessation of the symptoms and prevention of the disease developing into the fully blown CRPS type 1 with irreversible and possibly atrophic consequences. Case histories have been presented that illustrate these important aspects and demonstrate  the value of early and the appropriate physiotherapy that may be more successful than other pharmacological and physical interventions in this disease.

  16. Reflex sympathetic dystrophy/complex regional pain syndrome, type 1

    Directory of Open Access Journals (Sweden)

    S.H. Botha

    2004-06-01

    Full Text Available Complex regional pain syndrome (CPRS, type 1 is a pain disorder that develops unpredictably and can follow a minor injury. A 12-year-old boy presented with severe pain in the feet and could not walk or stand weight bearing. Normal X-rays showed osteopenic changes and radiolucent lines, which appeared to be stress fractures. Three-phase bone scintigraphy showed no uptake in the left lower leg on the blood pool phase or on the immediate or delayed images. This indicated typical CPRS type 1 in children. The uptake in the right foot was increased and the stress fracture and other illness could not be differentiated. Computed tomography was done to exclude stress fractures. Only osteopenic changes in both calcaneus bones were found and there was no evidence of cortical stress fractures. Magnetic resonance images revealed oedema in the calcaneus and talus bones of both feet. The patient received epidural narcotic infusion with sympathetic blockage for 1 week combined with extensive physiotherapy. The blood pool phase of the bone scan became normal within 2 weeks, and increased uptake in both feet was noticed. The patient was followed up with MRI every 3 months and the bone marrow oedema disappeared after 6 months.

  17. High Quantum Efficiency Type II SLS FPAs for Space-Based Applications Project

    Data.gov (United States)

    National Aeronautics and Space Administration — This Phase II SBIR proposes to develop high quantum efficiency (QE) and low dark current infrared epitaxy materials based on Type II Strained Layer Superlattice...

  18. Autoimmune polyglandular syndrome type 1 in a 12-year-old ...

    African Journals Online (AJOL)

    2011-12-20

    Dec 20, 2011 ... Case Study: Autoimmune polyglandular syndrome type 1 in a 12-year-old Ugandan girl. 65. 2013 Volume 18 ... Autoimmune polyglandular syndrome type 1 (APS-1), also known as autoimmune polyendocrinopathy-candidiasis- ectodermal dystrophy ... Serum phosphorus, magnesium and vitamin D levels ...

  19. Effects of angiotensin II and angiotensin II type 1 receptor blockade on neointimal formation after stent implantation

    NARCIS (Netherlands)

    Groenewegen, Hendrik C.; van der Harst, Pim; Roks, Anton J. M.; Buikema, Hendrik; Zijlstra, Felix; van Gilst, Wiek H.; de Smet, Bart J. G. L.

    2008-01-01

    Background: To evaluate the effect of supraphysiological levels of angiotensin II and selective angiotensin II type 1 receptor ( AT1-receptor) blockade on neointimal formation and systemic endothelial function after stent implantation in the rat abdominal aorta. Methods: Male Wistar rats were

  20. Changes in the molecular structure of a type II-S kerogen (Monterey Formation, USA) during sequential chemical degradation

    NARCIS (Netherlands)

    Sinninghe Damsté, J.S.; Hold, I.M.; Brussee, N.J.; Schouten, S.

    1998-01-01

    Flash pyrolysis and sequential chemical degradation were combined to study the molecular composition of an immature Type II-S kerogen from the Miocene Monterey Formation. Firstly, base hydrolysis was performed in order to hydrolyse ester bonds, in the second step aliphatic ethers were cleaved and in

  1. Phase II study of photodynamic therapy (PDT) with Photofrin II for Hilar type early lung cancer

    International Nuclear Information System (INIS)

    Furuse, K.

    1992-01-01

    Recently, an increase in lung cancer incidence has been recognized internationally, and more early stage cases of lung cancer are being detected as a result of improvements in survey and diagnostic techniques, including flexible bronchofiberscope. However, some early stage cases that are inoperable due to age, poor pulmonary function, etc. are generally treated with conventional modalities, such as radiation therapy and/or chemotherapy. Modality to curatively treat such inoperable early stage lung cancers has still not been established. PhotoDynamic Therapy is a newly developed local therapeutic modality which has been shown to be able to obtain complete response and cure in those early stage lung cancers with carcinoma in situ. The objective of this study is, first, to evaluate the activity and toxicity of PDT with Photofrin II in hilar type of early lung cancer, and second, to determine the complete response rate as primary end-point. (author). 5 tabs

  2. Genetic heterogeneity of usher syndrome type 1 in French families

    Energy Technology Data Exchange (ETDEWEB)

    Larget-Piet, D.; Gerber, S.; Rozet, J.M. (INSERM, Paris (France)); Bonneau, D. (Clinique Medicale Infantile, Poitiers (France)); Marc, S.; Weissenbach, J. (Genethon, Evry (France)); Ghazi, I.; Dufier, J.L. (Hopital Laeennec, Paris (France)); David, A. (Service de Pediatrie III, Nantes (France)); Bitoun, P. (Service de Pediatrie, Bondy (France)) (and others)

    1994-05-01

    Usher syndrome type 1 (US1) is an autosomal recessive disease characterized by profound congenital hearing impairment with unintelligible speech, early retinitis pigmentosa, and constant vestibular dysfunction. Three localizations have been described in US1: USH1A, 14q32; USH1B, 11q13.5; and USH1C, 11p15. Studying a series of 33 affected individuals belonging to 20 US1 pedigrees of French ancestry, the authors found that none of the three localizations accounted for all US1 families in the series. However, when the sample was split into two groups according to the geographic origin of the probands' grandparents, they were able to confirm the presence of a gene for US1 on chromosome 14q32 (USH1A) in 9 families originating from the Poitou region in Western France. Moreover, they refined the genetic mapping of USH1A by showing that the disease gene maps to the D14S13 locus, within the genetic interval defined by loci D14S78 and D14S250 (location score in log base 10 = 4.90). Consistent with this, nonsignificant lod score values for linkage to either USH1B or USH1C were found in this group. With regard to US1 families of other geographic origin (Normandy and Northern France, 11 families), nonsignificant lod scores for linkage to chromosome 11q13.5 were observed. However, the HOMOG test suggested that USH1B might account for the disease in 9/11 families in the series (families 10-19), the latter two families possibly being accounted for by USH1C (maximum likelihood for heterogeneity = 7.91 in lnL; heterogeneity versus homogeneity, P = 0.01; heterogeneity versus nonlinkage, P < 0.01). The present study supports the view that Usher syndrome type 1 is a genetically heterogeneous condition that is caused by at least three genes and possibly many more. 16 refs., 4 figs., 3 tabs.

  3. Ca(2+) currents and voltage responses in Type I and Type II hair cells of the chick embryo semicircular canal.

    Science.gov (United States)

    Masetto, Sergio; Zampini, Valeria; Zucca, Giampiero; Valli, Paolo

    2005-11-01

    Type I and Type II hair cells, and Type II hair cells located in different zones of the semicircular canal crista, express different patterns of voltage-dependent K channels, each one specifically shaping the hair cell receptor potential. We report here that, close to hatching, chicken embryo semicircular canal Type I and Type II hair cells express a similar voltage-dependent L-type calcium current (I(Ca)), whose main features are: activation above -60 mV, fast activation kinetics, and scarce inactivation. I(Ca) should be already active at rest in Zone 1 Type II hair cells, whose resting membrane potential was on average slightly less negative than -60 mV. Conversely, I(Ca) would not be active at rest in Type II hair cells from Zone 2 and 3, nor in Type I hair cells, since their resting membrane potential was significantly more negative than -60 mV. However, even small depolarising currents would activate I(Ca) steadily in Zone 2 and 3 Type II hair cells, but not in Type I hair cells because of the robust repolarising action of their specific array of K(+) currents. The implications of the present findings in the afferent discharge are discussed.

  4. Active locking and entanglement in type II optical parametric oscillators

    Science.gov (United States)

    Ruiz-Rivas, Joaquín; de Valcárcel, Germán J.; Navarrete-Benlloch, Carlos

    2018-02-01

    Type II optical parametric oscillators are amongst the highest-quality sources of quantum-correlated light. In particular, when pumped above threshold, such devices generate a pair of bright orthogonally-polarized beams with strong continuous-variable entanglement. However, these sources are of limited practical use, because the entangled beams emerge with different frequencies and a diffusing phase difference. It has been proven that the use of an internal wave-plate coupling the modes with orthogonal polarization is capable of locking the frequencies of the emerging beams to half the pump frequency, as well as reducing the phase-difference diffusion, at the expense of reducing the entanglement levels. In this work we characterize theoretically an alternative locking mechanism: the injection of a laser at half the pump frequency. Apart from being less invasive, this method should allow for an easier real-time experimental control. We show that such an injection is capable of generating the desired phase locking between the emerging beams, while still allowing for large levels of entanglement. Moreover, we find an additional region of the parameter space (at relatively large injections) where a mode with well defined polarization is in a highly amplitude-squeezed state.

  5. Sexual dysfunction in type II diabetic females: a comparative study.

    Science.gov (United States)

    Erol, Bulent; Tefekli, Ahmet; Ozbey, Isa; Salman, Fatih; Dincag, Nevin; Kadioglu, Ates; Tellaloglu, Sedat

    2002-01-01

    Diabetes Mellitus (DM) is considered to play a principle role in the etiopathogenesis of sexual dysfunction both in men and women. The aim of this study is to evaluate sexual function in Type II diabetic women. A total of 72 young diabetic women (mean age: 38.8 years) with no other systemic diseases and 60 age-matched healthy women were enrolled in our study. We sought from them a detailed medical and sexual history and used the Index of Female Sexual function (IFSF) questionnaire (Kaplan et al., 1999). The mean IFSF score of diabetic women was 29.3 +/- 6.4 and was 37.7 +/- 3.5 in normal cases (p diabetics and was observed in 77% of the women. Diminished clitoral sensation was observed in 62.5% of the women, 37.5% complained of vaginal dryness and 41.6% had vaginal discomfort. Orgasmic dysfunction was found in 49% of the women. The incidence of all these related symptoms were significantly higher when compared to controls. We concluded that significant percentage of diabetic women that we observed experience sexual dysfunction of varying degrees that diminishes their quality of life.

  6. Dentinogenesis imperfecta type II: approach for dental treatment

    Directory of Open Access Journals (Sweden)

    Raquel Mantuaneli Scarel-Caminaga

    Full Text Available INTRODUCTION: Dentinogenesis imperfecta (DI is a hereditary dentin development disorder that affects both primary and permanent dentitions. The DI characteristics are discolored and translucent teeth ranging from gray to brownish-blue or amber. The enamel may split readily from the dentin when subjected to occlusal stress. Radiographically there are evident of cervical constrictions, short root and pulp chambers, and the root canals are smaller than normal or completely obliterated. The dental treatment choice can be decided on a case-by case‑basis, considering the degree of dental tissue loss, and child age and cooperation. OBJECTIVE: The aim of this case report was to describe the early dental treatment performed in a child affected by DI type II. CASE REPORT: The treatment involved basic preventive procedures. Primary molars were worn to such an extent that the remained tooth structure was covered with composite resin to protect the exposed dentin. Resin-based sealant was applied in all first permanent molars. Posterior cross bite was treated with the expansion of the upper arch. CONCLUSION: The early treatment restored the patient´s vertical dimension resulting in acceptable esthetics and function for the permanent teeth to complete their eruption.

  7. Impact of Type II Spicules into the Corona

    Science.gov (United States)

    Martinez-Sykora, Juan; De Pontieu, Bart; Carlsson, Mats; Hansteen, Viggo H.; Pereira, Tiago M. D.

    2017-08-01

    In the lower solar atmosphere, the chromosphere is permeated by jets, in which plasma is propelled at speeds of 50-150 km/s into the Sun’s atmosphere or corona. Although these spicules may play a role in heating the million-degree corona and are associated with Alfvén waves that help drive the solar wind, their generation remains mysterious. We implemented in the radiative MHD Bifrost code the effects of partial ionization using the generalized Ohm’s law. This code also solves the full MHD equations with non-grey and non-LTE radiative transfer and thermal conduction along magnetic field lines. The ion-neutral collision frequency is computed using recent studies that improved the estimation of the cross sections under chromospheric conditions (Vranjes & Krstic 2013). Self-consistently driven jets (spicules type II) in magnetohydrodynamic simulations occur ubiquitously when magnetic tension is confined and transported upwards through interactions between ions and neutrals, and impulsively released to drive flows, heat plasma, generate Alfvén waves, and may play an important role in maintaining the substructure of loop fans. This mechanism explains how spicular plasma can be heated to millions of degrees and how Alfvén waves are generated in the chromosphere.

  8. Flux-line-cutting losses in type-II superconductors

    International Nuclear Information System (INIS)

    Clem, J.R.

    1982-01-01

    Energy dissipation associated with flux-line cutting (intersection and cross-joining of adjacent nonparallel vortices) is considered theoretically. The flux-line-cutting contribution to the dissipation per unit volume, arising from mutual annihilation of transverse magnetic flux, is identified as J/sub parallel/xE/sub parallel/, where J/sub parallel/ and E/sub parallel/ are the components of the current density and the electric field parallel to the magnetic induction. The dynamical behavior of the magnetic structure at the flux-line-cutting threshold is shown to be governed by a special critical-state model similar to that proposed by previous authors. The resulting flux-line-cutting critical-state model, characterized in planar geometry by a parallel critical current density J/sub c/parallel or a critical angle gradient k/sub c/, is used to calculate predicted hysteretic ac flux-line-cutting losses in type-II superconductors in which the flux pinning is weak. The relation of the theory to previous experiments is discussed

  9. Expanding the clinical and mutational spectrum of the Ehlers-Danlos syndrome, dermatosparaxis type.

    Science.gov (United States)

    Van Damme, Tim; Colige, Alain; Syx, Delfien; Giunta, Cecilia; Lindert, Uschi; Rohrbach, Marianne; Aryani, Omid; Alanay, Yasemin; Simsek-Kiper, Pelin Özlem; Kroes, Hester Y; Devriendt, Koen; Thiry, Marc; Symoens, Sofie; De Paepe, Anne; Malfait, Fransiska

    2016-09-01

    The Ehlers-Danlos syndrome (EDS), dermatosparaxis type, is a recessively inherited connective tissue disorder caused by deficient activity of ADAMTS-2, an enzyme that cleaves the aminoterminal propeptide domain of types I, II, and III procollagen. Only 10 EDS dermatosparaxis patients have been reported, all presenting a recognizable phenotype with characteristic facial gestalt, extreme skin fragility and laxity, excessive bruising, and sometimes major complications due to visceral and vascular fragility. We report on five new EDS dermatosparaxis patients and provide a comprehensive overview of the current knowledge of the natural history of this condition. We identified three novel homozygous loss-of-function mutations (c.2927_2928delCT, p.(Pro976Argfs*42); c.669_670dupG, p.(Pro224Argfs*24); and c.2751-2A>T) and one compound heterozygous mutation (c.2T>C, p.? and c.884_887delTGAA, p.(Met295Thrfs26*)) in ADAMTS2 in five patients from four unrelated families. Three of these displayed a phenotype that was strikingly milder than that of previously reported patients. This study expands the clinical and molecular spectrum of the dermatosparaxis type of EDS to include a milder phenotypic variant and stresses the importance of good clinical criteria. To address this, we propose an updated set of criteria that accurately captures the multisystemic nature of the dermatosparaxis type of EDS.Genet Med 18 9, 882-891.

  10. An Egyptian patient with Schwartz-Jampel syndrome type I and new ...

    African Journals Online (AJOL)

    Solaf M. Elsayed

    2017-06-28

    Jun 28, 2017 ... 1p36.1 causing deficiency of Perlecan protein and manifested as mild childhood type (type IA) and severe congenital type (type IB). The aim of this report is to describe an Egyptian patient with Schwartz Jampel syndrome type IB and retinal pigment epithelial atrophy. As far as our knowledge, this ocular ...

  11. Craniofacial, limb, and abdominal anomalies in a distinct syndrome: relation to the spectrum of Pfeiffer syndrome type 3.

    Science.gov (United States)

    Barone, C M; Marion, R; Shanske, A; Argamaso, R V; Shprintzen, R J

    1993-03-15

    Presented are 2 patients with abnormal craniofacial region, limbs, and abdomen, features that may be consistent with Pfeiffer syndrome, type 3. Both patients had bicoronal and bisphenoidal synostosis, extreme exophthalmic midface hypoplasia, and hydrocephalus. The limbs had a fixed flexion deformity of the elbows with broad thumbs which were radiopalmarly deviated; the toes were broad with a varus deformity and syndactyly toes 2-5. Both patients developed bowel obstruction secondary to midgut malrotation, and one of the patients had prune belly syndrome. Review of the literature disclosed an additional patient who, in retrospect, had Pfeiffer syndrome type 3 and midgut malrotation. These patients suggest that intestinal malrotation with or without prune belly syndrome may be a common component of this entity.

  12. Hearing dysfunction in heterozygous Mitf(Mi-wh) /+ mice, a model for Waardenburg syndrome type 2 and Tietz syndrome.

    Science.gov (United States)

    Ni, Christina; Zhang, Deming; Beyer, Lisa A; Halsey, Karin E; Fukui, Hideto; Raphael, Yehoash; Dolan, David F; Hornyak, Thomas J

    2013-01-01

    The human deafness-pigmentation syndromes, Waardenburg syndrome (WS) type 2a, and Tietz syndrome are characterized by profound deafness but only partial cutaneous pigmentary abnormalities. Both syndromes are caused by mutations in MITF. To illuminate differences between cutaneous and otic melanocytes in these syndromes, their development and survival in heterozygous Microphthalmia-White (Mitf(Mi-wh) /+) mice were studied and hearing function of these mice characterized. Mitf(Mi-wh) /+ mice have a profound hearing deficit, characterized by elevated auditory brainstem response thresholds, reduced distortion product otoacoustic emissions, absent endocochlear potential, loss of outer hair cells, and stria vascularis abnormalities. Mitf(Mi-wh) /+ embryos have fewer melanoblasts during embryonic development than their wild-type littermates. Although cochlear melanocytes are present at birth, they disappear from the Mitf(Mi-wh) /+ cochlea between P1 and P7. These findings may provide insight into the mechanism of melanocyte and hearing loss in human deafness-pigmentation syndromes such as WS and Tietz syndrome and illustrate differences between otic and follicular melanocytes. © 2012 John Wiley & Sons A/S.

  13. Interrupted aortic arch type B in A patient with cat eye syndrome.

    Science.gov (United States)

    Belangero, Sintia Iole Nogueira; Bellucco, Fernanda Teixeira da Silva; Cernach, Mirlene C S P; Hacker, April M; Emanuel, Beverly S; Melaragno, Maria Isabel

    2009-05-01

    We report a patient with cat eye syndrome and interrupted aortic arch type B, a typical finding in the 22q11.2 deletion syndrome. Chromosomal analysis and fluorescent in situ hybridization (FISH) showed a supernumerary bisatellited isodicentric marker chromosome derived from chromosome 22. The segment from 22pter to 22q11.2 in the supernumerary chromosome found in our patient does not overlap with the region deleted in patients with the 22q11.2 deletion syndrome. However, the finding of an interrupted aortic arch type B is unusual in CES, although it is a frequent heart defect in the 22q11 deletion syndrome.

  14. Redesigning the type II' β-turn in green fluorescent protein to type I': implications for folding kinetics and stability.

    Science.gov (United States)

    Madan, Bharat; Sokalingam, Sriram; Raghunathan, Govindan; Lee, Sun-Gu

    2014-10-01

    Both Type I' and Type II' β-turns have the same sense of the β-turn twist that is compatible with the β-sheet twist. They occur predominantly in two residue β-hairpins, but the occurrence of Type I' β-turns is two times higher than Type II' β-turns. This suggests that Type I' β-turns may be more stable than Type II' β-turns, and Type I' β-turn sequence and structure can be more favorable for protein folding than Type II' β-turns. Here, we redesigned the native Type II' β-turn in GFP to Type I' β-turn, and investigated its effect on protein folding and stability. The Type I' β-turns were designed based on the statistical analysis of residues in natural Type I' β-turns. The substitution of the native "GD" sequence of i+1 and i+2 residues with Type I' preferred "(N/D)G" sequence motif increased the folding rate by 50% and slightly improved the thermodynamic stability. Despite the enhancement of in vitro refolding kinetics and stability of the redesigned mutants, they showed poor soluble expression level compared to wild type. To overcome this problem, i and i + 3 residues of the designed Type I' β-turn were further engineered. The mutation of Thr to Lys at i + 3 could restore the in vivo soluble expression of the Type I' mutant. This study indicates that Type II' β-turns in natural β-hairpins can be further optimized by converting the sequence to Type I'. © 2014 Wiley Periodicals, Inc.

  15. Regulated gene expression in cultured type II cells of adult human lung

    OpenAIRE

    Ballard, Philip L.; Lee, Jae W.; Fang, Xiaohui; Chapin, Cheryl; Allen, Lennell; Segal, Mark R.; Fischer, Horst; Illek, Beate; Gonzales, Linda W.; Kolla, Venkatadri; Matthay, Michael A.

    2010-01-01

    Alveolar type II cells have multiple functions, including surfactant production and fluid clearance, which are critical for lung function. Differentiation of type II cells occurs in cultured fetal lung epithelial cells treated with dexamethasone plus cAMP and isobutylmethylxanthine (DCI) and involves increased expression of 388 genes. In this study, type II cells of human adult lung were isolated at ∼95% purity, and gene expression was determined (Affymetrix) before and after culturing 5 days...

  16. Alveolar macrophage dysregulation in Hermansky-Pudlak syndrome type 1.

    Science.gov (United States)

    Rouhani, Farshid N; Brantly, Mark L; Markello, Thomas C; Helip-Wooley, Amanda; O'Brien, Kevin; Hess, Richard; Huizing, Marjan; Gahl, William A; Gochuico, Bernadette R

    2009-12-01

    Individuals with Hermansky-Pudlak syndrome type 1 (HPS-1), an autosomal recessive disorder characterized by defective biogenesis of lysosome-related organelles, develop an accelerated form of progressive fibrotic lung disease. The etiology of pulmonary fibrosis associated with HPS-1 is unknown. To investigate the potential pathogenesis of pulmonary fibrosis in HPS-1, lung cells and proteins from individuals with HPS-1 were studied. Forty-one subjects with HPS-1 with and without pulmonary fibrosis were evaluated with pulmonary function tests, high-resolution computed tomography scan, and bronchoscopy. Bronchoalveolar lavage cells and analytes were analyzed. Concentrations of total bronchoalveolar lavage cells and alveolar macrophages were significantly higher in epithelial lining fluid from subjects with HPS-1 with and without pulmonary fibrosis compared with healthy research volunteers. Concentrations of cytokines and chemokines (i.e., monocyte chemoattractant protein-1, macrophage inflammatory protein-1alpha, and granulocyte-macrophage colony-stimulating factor) in alveolar epithelial lining fluid were significantly higher in subjects with HPS-1 with and without pulmonary fibrosis compared with healthy research volunteers (P system in which to study the pathogenesis and treatment of HPS pulmonary fibrosis.

  17. Testosterone in obesity, metabolic syndrome and type 2 diabetes.

    Science.gov (United States)

    Stanworth, Roger D; Jones, T Hugh

    2009-01-01

    Testosterone levels are reduced in obesity, the metabolic syndrome and type 2 diabetes. Low testosterone levels are now being recognised as an independent risk factors for these conditions. Findings from men undergoing androgen suppression as treatment for prostate cancer confirm that the hypogonadal state increases body fat mass and serum insulin and there is a high rate of developing new diabetes in this population. Clinical trial data are consistent in showing reductions in body fat mass during testosterone replacement therapy. There are also trials showing improvements in insulin resistance and glycaemic control with testosterone. Most of the trials in this area to date have been of small size and the promising results require confirmation in larger trials, which are underway. In the longer term, large trials should be conducted to assess the potentially beneficial effects of testosterone on cardiovascular risk in this and other patient groups. In the meantime physicians involved in the care of men with diabetes should remain vigilant for the symptoms and signs of hypogonadism. Testosterone replacement therapy should be considered for those men with subsequently confirmed hypogonadism.

  18. Oral microbiota in autoimmune polyendocrine syndrome type 1

    Science.gov (United States)

    Bruserud, Øyvind; Siddiqui, Huma; Marthinussen, Mihaela Cuida; Chen, Tsute; Jonsson, Roland; Oftedal, Bergithe Eikeland; Olsen, Ingar; Husebye, Eystein Sverre; Wolff, Anette Bøe

    2018-01-01

    ABSTRACT Background: Autoimmune polyendocrine syndrome type-1 (APS-1) is a rare, childhood onset disease caused by mutations in the Autoimmune Regulator gene. The phenotypic expression is highly variable and includes disease manifestations in the oral cavity, including mucocutaneous candidiasis. Increasing evidence suggests a potential role of the skin, oral and gut microbiotas in the pathogenesis of autoimmunity. To date, no information exists regarding the oral microbiota in APS-1. Objective: To assess the bacterial microbiota of whole saliva in APS-1 patients by using high throughput sequencing. Design: Whole unstimulated saliva was collected from 10 APS-1 patients and 17 healthy controls and examined by high throughput sequencing of the hypervariable region V1-V2 of 16S rRNA using the 454 GS Junior system. Metastats (http://cbcb.umd.edu/software/metastats) was used to analyse the pyrosequencing reads. Results: A reduction in the total number of bacterial genera and species was detected in APS-1 compared to healthy controls. The proportion of the major phyla Firmicutes was higher (60% vs 41%, p = 0.002) and Bacteroidetes lower (15% vs 28%, p = 0.007) in APS-1 compared to healthy controls. On the genus level, Streptococcus and Gemella were prevalent in APS-1. Conclusion: Our findings indicate a significantly altered oral microbiota in APS-1. PMID:29503707

  19. [Oral diseases in auto-immune polyendocrine syndrome type 1].

    Science.gov (United States)

    Proust-Lemoine, Emmanuelle; Guyot, Sylvie

    2017-09-01

    Auto-immune polyendocrine syndrome type 1 (APS1) also called Auto-immune Polyendocrinopathy Candidiasis Ectodermal Dystrophy (APECED) is a rare monogenic childhood-onset auto-immune disease. This autosomal recessive disorder is caused by mutations in the auto-immune regulator (AIRE) gene, and leads to autoimmunity targeting peripheral tissues. There is a wide variability in clinical phenotypes in patients with APSI, with auto-immune endocrine and non-endocrine disorders, and chronic mucocutaneous candidiasis. These patients suffer from oral diseases such as dental enamel hypoplasia and candidiasis. Both are frequently described, and in recent series, enamel hypoplasia and candidiasis are even the most frequent components of APS1 together with hypoparathyroidism. Both often occur during childhood (before 5 years old for canrdidiasis, and before 15 years old for enamel hypoplasia). Oral candidiasis is recurrent all life long, could become resistant to azole antifungal after years of treatment, and be carcinogenic, leading to severe oral squamous cell carcinoma. Oral components of APS1 should be diagnosed and rigorously treated. Dental enamel hypoplasia and/or recurrent oral candidiasis in association with auto-immune diseases in a young child should prompt APS1 diagnosis. Copyright © 2017 Elsevier Masson SAS. All rights reserved.

  20. Midodrine in the prevention of hepatorenal syndrome type 2 recurrence: a case-control study.

    Science.gov (United States)

    Alessandria, C; Debernardi-Venon, W; Carello, M; Ceretto, S; Rizzetto, M; Marzano, A

    2009-04-01

    Hepatorenal syndrome is a severe complication of cirrhosis. Treatment with terlipressin has currently the best efficacy pedigree, inducing hepatorenal syndrome reversal in a high proportion of patients. However, hepatorenal syndrome recurrence after terlipressin withdrawal is very common, especially in type 2 hepatorenal syndrome. Midodrine, an oral adrenergic vasoconstrictor, has been suggested to be an effective therapy in hepatorenal syndrome. To analyse the impact of treatment with midodrine after hepatorenal syndrome type 2 reversal induced by terlipressin on the prevention of hepatorenal syndrome recurrence. A case-control design was used. The outcome of 10 patients with hepatorenal syndrome type 2 treated successfully with terlipressin and then with midodrine (7.5-12.5mg/tid) was compared with that of an historical control group of hepatorenal syndrome type 2 patients responders to treatment with terlipressin. Patients and controls were matched by age, plasma renin activity (PRA) levels and severity of renal and liver failure. Cases and controls were similar with respect to pre-treatment with terlipressin. The hepatorenal syndrome recurrence probability was the same in the two groups (cases and control: 9/10, 90%, p=ns). No significant differences were found between cases and controls with respect to serum creatinine (1.9+/-0.1mg/dl vs. 2+/-0.2mg/dl), blood creatinine clearance (28+/-5ml/min vs. 24+/-5ml/min), urinary sodium excretion (12+/-6mequiv./d vs. 19+/-4mequiv./d) and PRA levels (17+/-3ng/ml/h) vs. 20+/-3ng/ml/h) after terlipressin withdrawal (p=ns). These results show that in patients responders to terlipressin hepatorenal syndrome recurrence is not different between patients treated with midodrine and subjects who did not receive vasoconstrictor treatment after terlipressin withdrawal. These data suggest that midodrine is not effective in preventing hepatorenal syndrome type 2 recurrence.

  1. Preventive Effect of Boiogito on Metabolic Disorders in the TSOD Mouse, a Model of Spontaneous Obese Type II Diabetes Mellitus

    Directory of Open Access Journals (Sweden)

    Tsutomu Shimada

    2011-01-01

    Full Text Available “Boiogito” is a Kampo preparation which has been used since ancient times in patients with obesity of the “asthenic constitution” type, so-called “watery obesity”, and its effect has been recognized clinically. In this study, we investigated the anti-obesity effect of Boiogito in the TSOD (Tsumura Suzuki Obese Diabetes mouse, a model of spontaneous obese type II diabetes mellitus. Boiogito showed a significant anti-obesity effect in TSOD mice by suppressing body weight gain in a dosage-dependent manner. In addition, Boiogito showed significant ameliorative effects on features of metabolic syndrome such as hyperinsulinemia, fasting hyperglycemia and abnormal lipid metabolism. Regarding lipid accumulation in TSOD mice, Boiogito showed a significant suppressive effect on accumulation of subcutaneous fat, but the effect on the visceral fat accumulation that constitutes the basis of metabolic syndrome was weak, and the suppressive effect on insulin resistance was also weak. Furthermore, Boiogito did not alleviate the abnormal glucose tolerance, the hypertension or the peripheral neuropathy characteristically developed in the TSOD mice. In contrast, in the TSNO (Tsumura Suzuki Non-Obesity mice used as controls, Boiogito suppressed body weight gain and accumulation of subcutaneous and visceral fat. The above results suggested that Boiogito is effective as an anti-obesity drug against obesity of the “asthenic constitution” type in which subcutaneous fat accumulates, but cannot be expected to exert a preventive effect against various symptoms of metabolic syndrome that are based on visceral fat accumulation.

  2. Microalbuminuria and the metabolic syndrome in obese type 2 ...

    African Journals Online (AJOL)

    Standard criteria for diagnosis of metabolic syndrome were used. Microalbuminuria was determined using 24-hour urinary albumin/creatinine ratio (mg/g). Result: Group A (obese diabetics with the metabolic syndrome) had mean ALB: CR ratio of 48±3 mg/g. The difference between the mean ALB: CR ratio of Group A (48±3 ...

  3. Resveratrol: A novel type of topoisomerase II inhibitor.

    Science.gov (United States)

    Lee, Joyce H; Wendorff, Timothy J; Berger, James M

    2017-12-22

    Resveratrol, a polyphenol found in various plant sources, has gained attention as a possible agent responsible for the purported health benefits of certain foods, such as red wine. Despite annual multi-million dollar market sales as a nutriceutical, there is little consensus about the physiological roles of resveratrol. One suggested molecular target of resveratrol is eukaryotic topoisomerase II (topo II), an enzyme essential for chromosome segregation and DNA supercoiling homeostasis. Interestingly, resveratrol is chemically similar to ICRF-187, a clinically approved chemotherapeutic that stabilizes an ATP-dependent dimerization interface in topo II to block enzyme activity. Based on this similarity, we hypothesized that resveratrol may antagonize topo II by a similar mechanism. Using a variety of biochemical assays, we find that resveratrol indeed acts through the ICRF-187 binding locus, but that it inhibits topo II by preventing ATPase domain dimerization rather than stabilizing it. This work presents the first comprehensive analysis of the biochemical effects of both ICRF-187 and resveratrol on the human isoforms of topo II, and reveals a new mode for the allosteric regulation of topo II through modulation of ATPase status. Natural polyphenols related to resveratrol that have been shown to impact topo II function may operate in a similar manner. © 2017 by The American Society for Biochemistry and Molecular Biology, Inc.

  4. Aortic root reconstruction by aortic valve-sparing operation (David type I reimplantation) in Marfan syndrome accompanied by annuloaortic ectasia and acute type-A aortic dissection.

    Science.gov (United States)

    Inamura, Shunichi; Furuya, Hidekazu; Yagi, Kentarou; Ikeya, Eriko; Yamaguchi, Masaomi; Fujimura, Takabumi; Kanabuchi, Kazuo

    2006-09-20

    To reconstruct the aortic root for aneurysm of the ascending aorta accompanied by aortic regurgitation, annuloaortic ectasia (AAE) and acute type-A dissection with root destruction, the Bentall operation using a prosthetic valve still is the standard procedure today. Valve-sparing procedures have actively been used for aortic root lesions, and have also been attempted in aortic root reconstruction for Marfan syndrome which may have abnormalities in the valve leaflets. We conducted a valve-sparing procedure in a female patient with Marfan syndrome who had AAE accompanied by type-A acute aortic dissection. The patient was a 37-year-old woman complaining of severe pain from the chest to the back. The limbs were long, and funnel breast was observed. Diastolic murmurs were heard. On chest computed tomography, a dissection cavity was present from the ascending aorta to the left common iliac artery, and the root dilated to 55 mm. Grade II aortic regurgitation was observed on ultrasound cardiography. Regarding her family history, her father had died suddenly at 54 years of age. She was diagnosed with type-A acute dissection concurrent with Marfan syndrome and AAE. The structure of the aortic valve was normal, and root reconstruction by a valve-sparing operation and total replacement of the aortic arch was conducted. On postoperative ultrasound cardiography, the aortic regurgitation was within the allowable range, and the shortterm postoperative results were good.

  5. Analysis of Pro-inflammatory Cytokine and Type II Interferon Induction by Nanoparticles.

    Science.gov (United States)

    Potter, Timothy M; Neun, Barry W; Rodriguez, Jamie C; Ilinskaya, Anna N; Dobrovolskaia, Marina A

    2018-01-01

    Cytokines, chemokines, and interferons are released by the immune cells in response to cellular stress, damage and/or pathogens, and are widely used as biomarkers of inflammation. Certain levels of cytokines are needed to stimulate an immune response in applications such as vaccines or immunotherapy where immune stimulation is desired. However, undesirable elevation of cytokine levels, as may occur in response to a drug or a device, may lead to severe side effects such as systemic inflammatory response syndrome or cytokine storm. Therefore, preclinical evaluation of a test material's propensity to cause cytokine secretion by healthy immune cells is an important parameter for establishing its safety profile. Herein, we describe in vitro methods for analysis of cytokines, chemokines, and type II interferon in whole blood cultures derived from healthy donor volunteers. First, whole blood is incubated with controls and tested nanomaterials for 24 h. Then, culture supernatants are analyzed by ELISA to detect IL-1β, TNFα, IL-8, and IFNγ. The culture supernatants can also be analyzed for the presence of other biomarkers secreted by the immune cells. Such testing would require additional assays not covered in this chapter and/or optimization of the test procedure to include relevant positive controls and/or cell types.

  6. Association of Sleep Apnea and Type II Diabetes

    Science.gov (United States)

    Reichmuth, Kevin J.; Austin, Diane; Skatrud, James B.; Young, Terry

    2005-01-01

    Rationale: Cross-sectional association has been reported between sleep-disordered breathing (SDB) and insulin resistance, but no prospective studies have been performed to determine whether SDB is causal in the development of diabetes. Objectives: The purpose of our study was to investigate the prevalence and incidence of type II diabetes in subjects with SDB and whether an independent relationship exists between them. Methods: A cross-sectional and longitudinal analysis was performed in 1,387 participants of the Wisconsin Sleep Cohort. Full polysomnography was used to characterize SDB. Diabetes was defined in two ways: (1) physician-diagnosis alone or (2) for those with glucose measurements, either fasting glucose ⩾ 126 mg/dl or physician diagnosis. Measurements and Main Results: There was a greater prevalence of diabetes in subjects with increasing levels of SDB. A total of 14.7% of subjects with an apnea–hypopnea index (AHI) of 15 or more had a diagnosis of diabetes compared with 2.8% of subjects with an AHI of less than 5. The odds ratio for having a physician diagnoses of diabetes mellitus with an AHI of 15 or greater versus an AHI of less than 5 was 2.30 (95% confidence interval, 1.28–4.11; p = 0.005) after adjustment for age, sex, and body habitus. The odds ratio for developing diabetes mellitus within 4 yr with an AHI of 15 or more compared with an AHI of less than 5 was 1.62 (95% confidence interval, 0.67–3.65; p = 0.24) when adjusting for age, sex, and body habitus. Conclusions: Diabetes is more prevalent in SDB and this relationship is independent of other risk factors. However, it is not clear that SDB is causal in the development of diabetes. PMID:16192452

  7. Effects of policosanol on postmenopausal women with type II hypercholesterolemia.

    Science.gov (United States)

    Castaño, G; Más, R; Fernández, L; Fernández, J C; Illnait, J; López, L E; Alvarez, E

    2000-06-01

    This randomized, double-blind, placebo-controlled study was conducted to investigate the efficacy, safety and tolerability of policosanol, a cholesterol-lowering drug purified from sugar-cane wax, in postmenopausal women with type II hypercholesterolemia. A total of 244 women who had experienced the menopause and showed elevated serum total cholesterol and low-density lipoprotein cholesterol (LDL-C) levels despite 6 weeks on a standard lipid-lowering diet were randomized to receive placebo or policosanol 5 mg/day for 12 weeks, after which the dose was doubled to 10 mg/day for the next 12 weeks. Policosanol (5 and 10 mg/day) significantly lowered LDL-C levels (17.7% and 25.2%, respectively) and total cholesterol (12.6% and 16.7%, respectively), as well as the ratios of LDL-C to high-density lipoprotein cholesterol (HDL-C) (17.0% and 29.3%, respectively) and total cholesterol to HDL-C (16.7% and 27.2%, respectively), compared to the baseline and placebo; at the same time, policosanol significantly raised HDL-C levels by 16.5% and 29.3%, respectively. The drug was safe and well tolerated. No drug-related adverse events were observed, and even the extent of adverse events was less in the policosanol group than in the placebo group. Four serious adverse events occurred in the placebo group (one myocardial infarction, two cases of hypertensive status and one surgical intervention) compared to none in the policosanol group. In conclusion, policosanol is effective, safe and well tolerated in hypercholesterolemic postmenopausal women.

  8. The Three-Dimensional Structural Basis of Type II Hyperprolinemia

    Energy Technology Data Exchange (ETDEWEB)

    Srivastava, Dhiraj; Singh, Ranjan K.; Moxley, Michael A.; Henzl, Michael T.; Becker, Donald F.; Tanner, John J. (UNL); (UMC)

    2012-08-31

    Type II hyperprolinemia is an autosomal recessive disorder caused by a deficiency in {Delta}{sup 1}-pyrroline-5-carboxylate dehydrogenase (P5CDH; also known as ALDH4A1), the aldehyde dehydrogenase that catalyzes the oxidation of glutamate semialdehyde to glutamate. Here, we report the first structure of human P5CDH (HsP5CDH) and investigate the impact of the hyperprolinemia-associated mutation of Ser352 to Leu on the structure and catalytic properties of the enzyme. The 2. 5-{angstrom}-resolution crystal structure of HsP5CDH was determined using experimental phasing. Structures of the mutant enzymes S352A (2.4 {angstrom}) and S352L (2.85 {angstrom}) were determined to elucidate the structural consequences of altering Ser352. Structures of the 93% identical mouse P5CDH complexed with sulfate ion (1.3 {angstrom} resolution), glutamate (1.5 {angstrom}), and NAD{sup +} (1.5 {angstrom}) were determined to obtain high-resolution views of the active site. Together, the structures show that Ser352 occupies a hydrophilic pocket and is connected via water-mediated hydrogen bonds to catalytic Cys348. Mutation of Ser352 to Leu is shown to abolish catalytic activity and eliminate NAD{sup +} binding. Analysis of the S352A mutant shows that these functional defects are caused by the introduction of the nonpolar Leu352 side chain rather than the removal of the Ser352 hydroxyl. The S352L structure shows that the mutation induces a dramatic 8-{angstrom} rearrangement of the catalytic loop. Because of this conformational change, Ser349 is not positioned to interact with the aldehyde substrate, conserved Glu447 is no longer poised to bind NAD{sup +}, and Cys348 faces the wrong direction for nucleophilic attack. These structural alterations render the enzyme inactive.

  9. Behavioral effects of type II pyrethroid cyhalothrin in rats

    International Nuclear Information System (INIS)

    Righi, D. Abbud; Palermo-Neto, J.

    2003-01-01

    Synthetic pyrethroids such as cyhalothrin are extensively used in agriculture for the control of a broad range of ectoparasites in farm animals. It has been suggested that type II pyrethroids might induce anxiogenic-like effects in laboratory animals. The present study was undertaken to investigate a possible anxiogenic-like outcome of cyhalothrin in rats. Adult male rats were orally dosed for 7 days with 1.0, 3.0, or 7.0 mg/kg/day of cyhalothrin, present in a commercial formulation (Grenade Coopers do Brazil S.A.). The neurobehavioral changes induced by cyhalothrin as well as those produced on corticosterone serum levels were measured 24 h after the last treatment. Picrotoxin (1.0 mg/kg) was also acutely used as a positive control for anxiety. Results showed that cyhalothrin: (1) induced some signs and symptoms of intoxication that included salivation, tremors, and liquid feces; (2) reduced total locomotor activity in the open-field; (3) reduced the percentage of time spent in open-field central zones; (4) increased immobility time in the open-field; (5) reduced the percentage of time spent in plus-maze open arms exploration; (6) reduced the time spent in social interactions, and (7) increased the levels of serum corticosterone. The behavioral changes reported for cyhalothrin (3.0 mg/kg/day) were similar of those induced by picrotoxin. The no effect level dose obtained for cyhalothrin in this study was 1.0 mg/kg/day. These results provide experimental evidence that cyhalothrin induces anxiety-like symptoms, with this effect being dose-related. Thus, anxiety must be included among the several signs and symptoms of pesticide intoxication

  10. Costing of diabetes mellitus type II in Cambodia.

    Science.gov (United States)

    Flessa, Steffen; Zembok, Anika

    2014-12-01

    Diabetes Mellitus Type II (T2DM) is a major and growing medical, social and economic burden in the East-Asian country of Cambodia. However, no economic modelling has been done to predict the number of cases and the budget impact. This paper forecasts the epidemiological and economic consequences of T2DM in Cambodia. The Ministry of Health and related donor agencies are supported to select the most cost-effective interventions against the disease. At the same time this paper demonstrates the relevance and potential of health economic modelling for least developed countries. We developed a Markov-Model for the specific situation of Cambodia. Data was taken from the scientific literature, grey literature in Cambodia and key-informant interviews. The number of people living with T2DM is steadily increasing from 145,000 in the year 2008 to 264,000 in the year 2028 (+82 %). In the year 2008 the diagnosed T2DM patients would incur costs of some 2 million US$ to cover all of diabetes treatment. 57 % of this amount would have to be spent for OAD-therapy, the rest for insulin therapy. In the year 2028 this amount will have grown to some 4 million US$. If all patients (incl. non-diagnosed) had to be paid-for the respective figure would be 5.5 million and 11 million US$. Screening for T2DM is only cost-effective if the sensitivity of the test is high while the unit price is low. The results of this simulation call for targeting the high-risk groups. However, an increased availability of Oral Anti-Diabetic and Insulin Therapy is highly cost-effective. Type 2 Diabetes Mellitus is a major public health challenge in Cambodia. The simulations clearly indicate that prevention and treatment of this disease is highly cost-effective. However, not everything that is cost-effective might be affordable in Cambodia. This country will require external support to ease the growing burden of T2DM.

  11. Neurodevelopmental attributes of joint hypermobility syndrome/Ehlers-Danlos syndrome, hypermobility type: Update and perspectives.

    Science.gov (United States)

    Ghibellini, Giulia; Brancati, Francesco; Castori, Marco

    2015-03-01

    In the last decade, increasing attention has been devoted to the extra-articular and extra-cutaneous manifestations of joint hypermobility syndrome, also termed Ehlers-Danlos syndrome, hypermobility type (i.e., JHS/EDS-HT). Despite the fact that the current diagnostic criteria for both disorders remain focused on joint hypermobility, musculoskeletal pain and skin changes, medical practice and research have started investigating a wide spectrum of visceral, neurological and developmental complications, which represent major burdens for affected individuals. In particular, children with generalized joint hypermobility often present with various neurodevelopmental issues and can be referred for neurological consultation. It is common that investigations in these patients yield negative or inconsistent results, eventually leading to the exclusion of any structural neurological or muscle disorder. In the context of specialized clinics for connective tissue disorders, a clear relationship between generalized joint hypermobility and a characteristic neurodevelopmental profile affecting coordination is emerging. The clinical features of these patients tend to overlap with those of developmental coordination disorder and can be associated with learning and other disabilities. Physical and psychological consequences of these additional difficulties add to the chief manifestations of the pre-existing connective tissue disorder, affecting the well-being and development of children and their families. In this review, particular attention is devoted to the nature of the link between joint hypermobility, coordination difficulties and neurodevelopmental issues in children. Presumed pathogenesis and management issues are explored in order to attract more attention on this association and nurture future clinical research. © 2015 Wiley Periodicals, Inc.

  12. Indications for the presence of antibodies cross-reactive with HTLV-I/II, but not HIV, in patients with myelodysplastic syndrome.

    Science.gov (United States)

    Möstl, M; Mucke, H; Schinkinger, M; Haushofer, A; Krieger, O; Lutz, D

    1992-10-01

    Serological evidence is presented for the fact that patients with the myelodysplastic syndrome exhibit a statistically significant reactivity in confirmatory assays for antibodies to human T-lymphotropic viruses types I and II (HTLV-I/II). This antibody reactivity, evident by indirect immunofluorescence and Western blot, was not confined to HTLV core antigens but extended to native and recombinant envelope glycoproteins. The effect was also observed in cases of acute myeloic leukemia, albeit to a lesser degree. It was essentially absent from patients with chronic myeloic leukemia or lymphocytic leukemias and healthy or multitransfused controls. No antibodies to human immunodeficiency viruses types 1 or 2 were detected in any of the specimens. The investigated clinical population had no known risk factor for retroviral infection other than a history of multiple platelet transfusions, and none of the specimens was seropositive for HTLV-I or HTLV-II according to recommended criteria. The cause of this cross-reactivity remains to be determined.

  13. Intake of coffee, caffeine and other methylxanthines and risk of Type I vs Type II endometrial cancer.

    Science.gov (United States)

    Uccella, S; Mariani, A; Wang, A H; Vierkant, R A; Cliby, W A; Robien, K; Anderson, K E; Cerhan, J R

    2013-10-01

    Coffee and other sources of methylxanthines and risk of Type I vs Type II endometrial cancer (EC) have not been evaluated previously. Prospective cohort of 23,356 postmenopausal women with 471 Type I and 71 Type II EC cases. Type I EC was statistically significantly associated with caffeinated (relative risk (RR)=0.65 for 4+ cups per day vs ≤1 cup per month: 95% confidence interval (CI): 0.47-0.89) but not decaffeinated (RR=0.76; 95% CI: 0.50-1.15) coffee intake; there were no associations with tea, cola or chocolate, or for Type II EC. The inverse association with caffeinated coffee intake was specific to women with a body mass index 30+ kg m(-2) (RR=0.56; 95% CI: 0.36-0.89). Coffee may protect against Type I EC in obese postmenopausal women.

  14. An Egyptian patient with Schwartz-Jampel syndrome type I and new ...

    African Journals Online (AJOL)

    Ocular manifestation is a part of the syndrome and include blepharospasm, cataract, subluxation of lens and myopia. The disease is caused by mutations of HSPG2 gene at chromosome 1p36.1 causing deficiency of Perlecan protein and manifested as mild childhood type (type IA) and severe congenital type (type IB).

  15. Griscelli syndrome type 2 – A case report and clinical approach to silver blonde hair

    Directory of Open Access Journals (Sweden)

    Sana Durrani

    2016-04-01

    Full Text Available Griscelli syndrome type 2 is a rare autosomal recessive disease caused by mutations in the RAB27A gene. It is characterized by pigmentary dilution of the skin and hair causing silvery gray hair, hemophagocytic lymphohistiocytosis and characteristic light microscopy findings in scalp hair shaft seen as large irregular clumps of pigment as opposed to the evenly distributed pigment along the hair shaft without any clumps. We describe a boy with classic features of Griscelli syndrome type 2 from Pakistan in whom a homozygous mutation in the RAB27A gene was identified that showed a single base substitution (c.598C>T predicted to cause premature protein termination (p.Arg200∗. We also present a clinical approach to silver blonde hair differentiating between the Griscelli syndrome types 1, 2 and 3, Chediak Hegashi Syndrome and Elejalde Syndrome.

  16. Evaluation of Serum HDL and LDL levels in Type II Diabetes Mellitus

    Directory of Open Access Journals (Sweden)

    K R Joshi

    2013-06-01

    Full Text Available   Introduction: Diabetes mellitus is a type of metabolic disorder characterized by hyperglycemia resulting from defect in insulin secretion, insulin action or both. This study intended to compare High Density Lipoprotein Cholesterol (HDL and Low Density Lipoprotein Cholesterol (LDL profile between type II diabetic and non-diabetic subjects and also find the correlation between HDL and LDL cholesterol in type II diabetic.   Methods: The study was conducted on 100 total subjects out of which experimental group with 50 subjects of known Type II Diabetes mellitus and control group with 50 subjects.   Results: The result of the present study suggests that fasting blood sugar and LDL cholesterol levels were increased but HDL cholesterol level was reduced in type II diabetic subjects when compared to controls.   Conclusion: The estimation of HDL cholesterol and LDL cholesterol in type II diabetes mellitus is very useful as it may serve as a useful parameter to monitor the prognosis of the patient.

  17. [Landry-type motor polyneuropathy and spinal transection syndrome with flaccid paraplegia. Rare neurological syndromes in panarteritis nodosa].

    Science.gov (United States)

    Patzold, U; Haller, P

    1975-03-07

    In a 59-year-old man in complete health a pure motor polyneuropathic syndrome with quadruplegia, swallowing and respiratory paralysis developed over a few hours. A few days later he died with the clinical picture of septicaemia. In a 59-year-old woman who had been investigated and treated for a suspected carcinoma for several months a predominantly distal sensomotoric polyneuropathy syndrome developed. The further course of disease was completely misleading as regards the diagnosis due to an acutely occurring transection syndrome with flaccid paraplegia, loss of reflexes, and bladder and rectal paralysis. Due to the very unusual neurological symptoms panarteritis nodosa was only diagnosed at autopsy and by histology in both cases. Panarteritis nodosa must be considered as a differential diagnosis in Landry-type polyneuropathy as well as in an acute spinal transection syndrome. The first patient demonstrates toxic damages, the second vascular damages of the nervous system which in general determine the neurological symptomatology of this vascular disease.

  18. Effects of low-dose rate irradiation on two types of type II diabetes model mice

    International Nuclear Information System (INIS)

    Nomura, Takaji; Sakai, Kazuo

    2004-01-01

    The effects of low-dose rate gamma-irradiation were investigated in two mouse strains - C57BL/KsJ-db/db (db mouse) and AKITA (AKITA mouse)-for type II diabetes mellitus. Both strains develop the developed type II diabetes by about 8 weeks of age due to dysfunction of the insulin/insulin receptor. The db Mouse' shows obese and exhibits hyperinsulinism, and the onset of Type II diabetes like resembles that for Westerners. On the other hand, the AKITA mouse has exhibits disordered insulin secretion, and the diabetes such as resembles that of Asians. Ten-week old female mice, in groups of 8 or 12, were irradiated at 0.65 mGy/hr in the low-dose rate irradiation facility in the Low Dose Radiation Research Center. The level of urine glucose was measured with test slips. The urine glucose levels of all of the mice were highly elevated the beginning of the irradiation. In the irradiated group of db mice, three mice showed decrease in glucose level compare to the level of non-irradiated diabetes mice after 35, 52 or 80 weeks of irradiation. All had maintained a normal level thereafter. No such improvement in diabetes was ever observed in the 12 mice of in the non-irradiated control group. The AKITA mice, however, did not decrease the glucose level regardless of the irradiation. Both the db mice and AKITA mice had their lives prolonged their life by the irradiation. The survival rate of db mice at the age of 90 weeks was 75% in the irradiated group, but 50% in the non-irradiated group. The average life span was 104 weeks in the irradiated group and 87 weeks in the control group. Furthermore, a marked difference was furthermore observed in the appearance of the coat hair, skin, and tail; appearances were well preserved in the irradiated group. The average life span in the irradiated AKITA mice was also longer than that for the non-irradiated mice, 51 weeks and 41 weeks in the irradiated and non-irradiated group respectively. These results suggest that the low-dose irradiation

  19. Prevalence of the metabolic syndrome among patients with type 2 ...

    African Journals Online (AJOL)

    DM), there is a multiple set of risk factors that commonly appear together forming what is now known as the 'Metabolic Syndrome' (MS). This 'clustering' of metabolic abnormalities that occur in the same individual appear to confer substantial ...

  20. Ehlers- Danlos Syndrome

    Directory of Open Access Journals (Sweden)

    Prasanta Basak

    1989-01-01

    Full Text Available A female patient had Ehlers-Danlos syndrome type II since infancy, manifesting with hyperextensible skin and ciagarette paper scars at the sites of trauma. Treatment with vitamin C 1 gm a day seemed to be useful.

  1. Bartter syndrome Type III and congenital anomalies of the kidney and urinary tract: an antenatal presentation

    NARCIS (Netherlands)

    Westland, R.; Hack, W.W.; van der Horst, H.J.; Uittenbogaard, L.B.; van Hagen, J.M.; van der Valk, P.; Kamsteeg, E.J.; Heuvel, L.P.W.J. van den; van Wijk, J.A.

    2012-01-01

    Bartter syndrome encompasses a variety of inheritable renal tubular transport disorders characterized by hypokalemia and hypochloremic metabolic alkalosis. Bartter syndrome Type III is caused by genetic alterations in the chloride channel kidney B (CLCNKB) gene and often presents in the first 2

  2. Autoimmune polyglandular syndrome type 1 in a 12-year-old ...

    African Journals Online (AJOL)

    Autoimmune polyglandular syndrome type 1 (APS-1), also known as autoimmune polyendocrinopathy-candidiasisectodermal dystrophy syndrome, is a very rare disorder of childhood. It is mainly characterised by the presence of at least two of the following: chronic mucocutaneous candidiasis, chronic hypoparathyroidism ...

  3. Clinical presentation of Griscelli syndrome type 2 and spectrum of RAB27A mutations

    DEFF Research Database (Denmark)

    Meeths, Marie; Bryceson, Yenan T; Rudd, Eva

    2010-01-01

    Griscelli syndrome type 2 (GS2) is an autosomal-recessive immunodeficiency caused by mutations in RAB27A, clinically characterized by partial albinism and haemophagocytic lymphohistocytosis (HLH). We evaluated the frequency of RAB27A mutations in 21 unrelated patients with haemophagocytic syndrom...

  4. The metabolic syndrome in type 2 diabetic subjects in Gorgan, Iran

    International Nuclear Information System (INIS)

    Marjani, A.; Mojerloo, M.

    2011-01-01

    Objective: To assess the prevalence of the metabolic syndrome in subjects diagnosed with Type 2 diabetes in Gorgan, Iran. Methods: Data were collected from 200 subjects with Type 2 diabetes mellitus and they were categorized as with or without the metabolic syndrome. Metabolic syndrome was diagnosed using Adult Treatment Panel-III (ATP-III) guidelines. Results: The overall metabolic syndrome prevalence was 51.50%. The mean age of all the subjects was 53.65+-9.50 years. There were 122 females and 78 males of whom 65 females and 38 males had the metabolic syndrome. The mean duration of diabetes was 7.70+-1.29 years. Mean triglycerides were 185.15+-56.63 mg/dl, and fasting blood glucose 153 +-19.6 mg/dl. These levels were significantly higher in the subjects with type-2 diabetes with metabolic syndrome, but the mean HDL-cholesterol was 37.96+-5.09 mg/dl and this was lower (p< 0.001). Female and male subjects with metabolic syndrome had significantly longer (except HDL-cholesterol) duration of diabetes, higher Triglyceride, and fasting blood glucose levels (p < 0.001, p < 0.05). Conclusion: This study showed a high prevalence of the metabolic syndrome in subjects with type 2 diabetes. Females were more affected than males. (author)

  5. Discriminating neutrino mass models using Type-II see-saw formula

    Indian Academy of Sciences (India)

    the sum of the two terms and 'pure Type-II see-saw formula' to represent only the first term. Type-II ... the vacuum expectation value (VEV) of the Higgs fields imparting mass to the right-handed neutrinos and fR is the Yukawa coupling matrix. The second term. mII. LL in eq. .... We thus express MRR in the most general form ...

  6. Symptoms and well-being in relation to glycemic control in type II diabetes

    NARCIS (Netherlands)

    Van Der Does, Ferdinand E.E.; De Neeling, J. Nico D.; Snoek, Frank J.; Kostense, Pieter J.; Grootenhuis, Peter A.; Bouter, Lex M.; Heine, Robert J.

    1996-01-01

    OBJECTIVE - To describe the cross-sectional relation between glycemic control and physical symptoms, emotional well-being, and general well-being in patients with type II diabetes. RESEARCH DESIGN AND METHODS - The study population consisted of 188 patients with type II diabetes between 40 and 75

  7. Stimulation of DNA synthesis in cultured rat alveolar type II cells

    International Nuclear Information System (INIS)

    Leslie, C.C.; McCormick-Shannon, K.; Robinson, P.C.; Mason, R.J.

    1985-01-01

    Restoration of the alveolar epithelium after injury is thought to be dependent on the proliferation of alveolar type II cells. To understand the factors that may be involved in promoting type II cell proliferation in vivo, we determined the effect of potential mitogens and culture substrata on DNA synthesis in rat alveolar type II cells in primary culture. Type II cells cultured in basal medium containing 10% fetal bovine serum (FBS) exhibited essentially no DNA synthesis. Factors that stimulated 3 H-thymidine incorporation included cholera toxin, epidermal growth factor, and rat serum. The greatest degree of stimulation was achieved by plating type II cells on an extracellular matrix prepared from bovine corneal endothelial cells and then by culturing the pneumocytes in medium containing rat serum, cholera toxin, insulin, and epidermal growth factor. Under conditions of stimulation of 3 H-thymidine incorporation there was an increased DNA content per culture dish but no increase in cell number. The ability of various culture conditions to promote DNA synthesis in type II cells was verified by autoradiography. Type II cells were identified by the presence of cytoplasmic inclusions, which were visualized by tannic acid staining before autoradiography. These results demonstrate the importance of soluble factors and culture substratum in stimulating DNA synthesis in rat alveolar type II cells in primary culture

  8. Type II Estrogen Receptor in the Development and Progression of Breast Cancer

    National Research Council Canada - National Science Library

    Biswas, Subhasis

    1996-01-01

    .... The antibody was able to detect the type II EBS in Western Blot. In order to identify the gene encoding the type II EBS, a cDNA library was created in lambdagt11 using cDNA prepared from pregnant rat uterine tissue...

  9. Characterization of cloned cells from an immortalized fetal pulmonary type II cell line

    Energy Technology Data Exchange (ETDEWEB)

    Henderson, R.F.; Waide, J.J.; Lechner, J.F.

    1995-12-01

    A cultured cell line that maintained expression of pulmonary type II cell markers of differentiation would be advantageous to generate a large number of homogenous cells in which to study the biochemical functions of type II cells. Type II epithelial cells are the source of pulmonary surfactant and a cell of origin for pulmonary adenomas. Last year our laboratory reported the induction of expression of two phenotypic markers of pulmonary type II cells (alkaline phosphatase activity and surfactant lipid synthesis) in cultured fetal rat lung epithelial (FRLE) cells, a spontaneously immortalized cell line of fetal rat lung type II cell origin. Subsequently, the induction of the ability to synthesize surfactant lipid became difficult to repeat. We hypothesized that the cell line was heterogenuous and some cells were more like type II cells than others. The purpose of this study was to test this hypothesis and to obtain a cultured cell line with type II cell phenotypic markers by cloning several FRLE cells and characterizing them for phenotypic markers of type II cells (alkaline phosphatase activity and presence of surfactant lipids). Thirty cloned cell lines were analyzed for induced alkaline phosphatase activity (on x-axis) and for percent of phospholipids that were disaturated (i.e., surfactant).

  10. Stickler Syndrome Type 1 with Short Stature and Atypical Ocular Manifestations

    Directory of Open Access Journals (Sweden)

    Manisha Goyal

    2016-01-01

    Full Text Available Stickler syndrome or hereditary progressive arthroophthalmopathy is a heterogeneous group of collagen tissue disorders, characterized by orofacial features, ophthalmological features (high myopia, vitreoretinal degeneration, retinal detachment, and presenile cataracts, hearing impairment, mild spondyloepiphyseal dysplasia, and/or early onset arthritis. Stickler syndrome type I (ocular form is caused by mutation in the COL2A1 gene. Ptosis and uveitis are relatively rare ophthalmological manifestations of this syndrome. We report an Indian boy having 2710C>T mutation in COL2A1 gene demonstrating short stature, ptosis, and uveitis with Stickler syndrome.

  11. Importance of genetic factors in the occurrence of epilepsy syndrome type: a twin study

    DEFF Research Database (Denmark)

    Corey, Linda A; Pellock, John M; Kjeldsen, Marianne J

    2011-01-01

    Syndromes. Concordance rates were significantly increased in monozygotic versus dizygotic pairs for all major syndrome groups except localization-related cryptogenic epilepsy. Among generalized epilepsies, genetic factors were found to play an important role in the determination of childhood absence...... not appear to play an important role in determining risk for frontal, occipital or temporal lobe epilepsy. These results suggest that, while genetic factors contribute to risk for major syndrome types, determined when possible, their contribution to risk for localization-related syndrome sub...

  12. Novel and recurrent MYO7A mutations in Usher syndrome type 1 and type 2.

    Directory of Open Access Journals (Sweden)

    Weining Rong

    Full Text Available Usher syndrome (USH is a group of disorders manifested as retinitis pigmentosa and bilateral sensorineural hearing loss, with or without vestibular dysfunction. Here, we recruited three Chinese families affected with autosomal recessive USH for detailed clinical evaluations and for mutation screening in the genes associated with inherited retinal diseases. Using targeted next-generation sequencing (NGS approach, three new alleles and one known mutation in MYO7A gene were identified in the three families. In two families with USH type 1, novel homozygous frameshift variant p.Pro194Hisfs*13 and recurrent missense variant p.Thr165Met were demonstrated as the causative mutations respectively. Crystal structural analysis denoted that p.Thr165Met would very likely change the tertiary structure of the protein encoded by MYO7A. In another family affected with USH type 2, novel biallelic mutations in MYO7A, c.[1343+1G>A];[2837T>G] or p.[?];[Met946Arg], were identified with clinical significance. Because MYO7A, to our knowledge, has rarely been correlated with USH type 2, our findings therefore reveal distinguished clinical phenotypes associated with MYO7A. We also conclude that targeted NGS is an effective approach for genetic diagnosis for USH, which can further provide better understanding of genotype-phenotype relationship of the disease.

  13. Oxidative Metabolites of Curcumin Poison Human Type II Topoisomerases†

    Science.gov (United States)

    Ketron, Adam C.; Gordon, Odaine N.; Schneider, Claus; Osheroff, Neil

    2013-01-01

    The polyphenol curcumin is the principal flavor and color component of the spice turmeric. Beyond its culinary uses, curcumin is believed to positively impact human health and displays antioxidant, anti-inflammatory, antibacterial, and chemopreventive properties. It also is in clinical trials as an anticancer agent. In aqueous solution at physiological pH, curcumin undergoes spontaneous autoxidation that is enhanced by oxidizing agents. The reaction proceeds through a series of quinone methide and other reactive intermediates to form a final dioxygenated bicyclopentadione product. Several naturally occurring polyphenols that can form quinones have been shown to act as topoisomerase II poisons (i.e., increase levels of topoisomerase II-mediated DNA cleavage). Because several of these compounds have chemopreventive properties, we determined the effects of curcumin, its oxidative metabolites, and structurally related degradation products (vanillin, ferulic acid, and feruloylmethane), on the DNA cleavage activities of human topoisomerase IIα and IIβ. Intermediates in the curcumin oxidation pathway increased DNA scission mediated by both enzymes ~4-5–fold. In contrast, curcumin and the bicyclopentadione, as well as vanillin, ferulic acid, and feruloylmethane, had no effect on DNA cleavage. As found for other quinone-based compounds, curcumin oxidation intermediates acted as redox-dependent (as opposed to interfacial) topoisomerase II poisons. Finally, under conditions that promote oxidation, the dietary spice turmeric enhanced topoisomerase II-mediated DNA cleavage. Thus, even within the more complex spice formulation, oxidized curcumin intermediates appear to function as topoisomerase II poisons. PMID:23253398

  14. Features of burnout syndrome development in healthcare workers with different types of work motivation

    Directory of Open Access Journals (Sweden)

    Vezhnovets T.A.

    2016-05-01

    Full Text Available The article presents the results of researches of peculiarities of burnout syndrome formation in healthcare workers with different types of work motivation. It is discovered that the syndrome is formed for each motivational type as mechanism of psychological protection against the action of certain stressful factors, namely: for instrumental type – an excessive concentration on obtaining material rewards; for professional type – an excessive control of emotions in substantial professional communications and high psycho-emotional overload; for patriotic type – high level of dependence on social approval, a high level of communicative activity, a high level of psycho-emotional overload, for economical type – distrust, for lumpenized – any labor. Prevention of burnout syndrome in healthcare workers has to be realized taking into account peculiarities of psycho-traumatic factors depending on the type of work motivation.

  15. Flux tubes and the type-I/type-II transition in a superconductor coupled to a superfluid

    International Nuclear Information System (INIS)

    Alford, Mark G.; Good, Gerald

    2008-01-01

    We analyze magnetic-flux tubes at zero temperature in a superconductor that is coupled to a superfluid via both density and gradient ('entrainment') interactions. The example we have in mind is high-density nuclear matter, which is a proton superconductor and a neutron superfluid, but our treatment is general and simple, modeling the interactions as a Ginzburg-Landau effective theory with four-fermion couplings, including only s-wave pairing. We numerically solve the field equations for flux tubes with an arbitrary number of flux quanta and compare their energies. This allows us to map the type-I/type-II transition in the superconductor, which occurs at the conventional κ≡λ/ξ=1/√(2) if the condensates are uncoupled. We find that a density coupling between the condensates raises the critical κ and, for a sufficiently high neutron density, resolves the type-I/type-II transition line into an infinite number of bands corresponding to 'type-II(n)' phases, in which n, the number of quanta in the favored flux tube, steps from 1 to infinity. For lower neutron density, the coupling creates spinodal regions around the type-I/type-II boundary, in which metastable flux configurations are possible. We find that a gradient coupling between the condensates lowers the critical κ and creates spinodal regions. These exotic phenomena may not occur in nuclear matter, which is thought to be deep in the type-II region but might be observed in condensed-matter systems

  16. Distinct Gene Expression Signatures in Lynch Syndrome and Familial Colorectal Cancer Type X

    DEFF Research Database (Denmark)

    Valentin, Mev; Therkildsen, Christina; Veerla, Srinivas

    2013-01-01

    Heredity is estimated to cause at least 20% of colorectal cancer. The hereditary nonpolyposis colorectal cancer subset is divided into Lynch syndrome and familial colorectal cancer type X (FCCTX) based on presence of mismatch repair (MMR) gene defects.......Heredity is estimated to cause at least 20% of colorectal cancer. The hereditary nonpolyposis colorectal cancer subset is divided into Lynch syndrome and familial colorectal cancer type X (FCCTX) based on presence of mismatch repair (MMR) gene defects....

  17. Case Report: Oral–Facial–Digital Syndrome type VI with self ...

    African Journals Online (AJOL)

    Case Report: Oral–Facial–Digital Syndrome type VI with self mutilations. R M Shawky, H S Abd-Elkhalek Elabd, S Gad, R Gamal, S A Mohammad. Abstract. We report the case of a 2.5 year old female, 2nd in order of birth of 1st cousin consanguineous marriage, with the typical features of Oral–Facial–Digital Syndrome type ...

  18. Expression Profiles of Cellular Retinol-binding Protein, Type II (CRBP II in Erlang Mountainous Chickens

    Directory of Open Access Journals (Sweden)

    H. D. Yin

    2014-03-01

    Full Text Available Cellular retinol-binding protein II (CRBP II belongs to the family of cellular retinol-binding proteins and plays a major role in absorption, transport, and metabolism of vitamin A. In addition, because vitamin A is correlated with reproductive performance, we measured CRBP II mRNA abundance in erlang mountainous chickens by real-time PCR using the relative quantification method. The expression of CRBP II showed a tissue-specific pattern and egg production rate-dependent changes. The expression was very high (p<0.05 in jejunum and liver, intermediate in kidney, ovary, and oviduct, and lowest (p<0.05 in heart, hypothalamus, and pituitary. In the hypothalamus, oviduct, ovary, and pituitary, CRBP II mRNA abundance were correlated to egg production rate, which increased from 12 wk to 32 wk, peaked at 32 wk relative to the other time points, and then decreased from 32 wk to 45 wk. In contrast, the expression of CRBP II mRNA in heart, jejunum, kidney, and liver was not different at any of the ages evaluated in this study. These data may help to understand the genetic basis of vitamin A metabolism, and suggest that CRBP II may be a candidate gene to affect egg production traits in chickens.

  19. A putative Type IIS restriction endonuclease GeoICI

    Indian Academy of Sciences (India)

    As opposed to the unstable prototype, which cleaves DNA at 30°C, GeoICI is highly active at elevated temperatures, up to 73°C and over a very wide salt concentration range. Recognition/cleavage sites were determined by: (i) digestion of plasmid and bacteriophage lambda DNA (λ); (ii) cleavage of custom PCR substrates, ...

  20. Molecular determinants of angiotensin II type 1 receptor functional selectivity

    DEFF Research Database (Denmark)

    Aplin, Mark; Bonde, Marie Mi; Hansen, Jakob Lerche

    2008-01-01

    probing with analogues of angiotensin II. These studies also provide clues about the conformational changes that underlie different functional outcomes. In this review, we evaluate current knowledge of the molecular determinants of AT(1) receptor activation, which may distinguish G protein...... of molecular mechanisms that govern disparate signalling events....

  1. Interplay of type I and type II seesaw contributions to neutrino mass

    International Nuclear Information System (INIS)

    Akhmedov, Evgeny Kh.; Frigerio, Michele

    2007-01-01

    Type I and type II seesaw contributions to the mass matrix of light neutrinos are inherently related if left-right symmetry is realized at high energy scales. We investigate implications of such a relation for the interpretation of neutrino data. We proved recently that the left-right symmetric seesaw equation has eight solutions, related by a duality property, for the mass matrix of right-handed neutrinos M R . In this paper the eight allowed structures of M R are reconstructed analytically and analyzed numerically in a bottom-up approach. We study the dependence of right-handed neutrino masses on the mass spectrum of light neutrinos, mixing angle θ 13 , leptonic CP violation, scale of left-right symmetry breaking and on the hierarchy in neutrino Yukawa couplings. The structure of the seesaw formula in several specific SO(10) models is explored in the light of the duality. The outcome of leptogenesis may depend crucially on the choice among the allowed structures of M R and on the level crossing between right-handed neutrino masses

  2. Type II NKT cells: a distinct CD1d-restricted immune regulatory NKT cell subset.

    Science.gov (United States)

    Dasgupta, Suryasarathi; Kumar, Vipin

    2016-08-01

    Type II natural killer T cells (NKT) are a subset of the innate-like CD1d-restricted lymphocytes that are reactive to lipid antigens. Unlike the type I NKT cells, which express a semi-invariant TCR, type II NKT cells express a broader TCR repertoire. Additionally, other features, such as their predominance over type I cells in humans versus mice, the nature of their ligands, CD1d/lipid/TCR binding, and modulation of immune responses, distinguish type II NKT cells from type I NKT cells. Interestingly, it is the self-lipid-reactivity of type II NKT cells that has helped define their physiological role in health and in disease. The discovery of sulfatide as one of the major antigens for CD1d-restricted type II NKT cells in mice has been instrumental in the characterization of these cells, including the TCR repertoire, the crystal structure of the CD1d/lipid/TCR complex, and their function. Subsequently, several other glycolipids and phospholipids from both endogenous and microbial sources have been shown to activate type II NKT cells. The activation of a specific subset of type II NKT cells following administration with sulfatide or lysophosphatidylcholine (LPC) leads to engagement of a dominant immunoregulatory pathway associated with the inactivation of type I NKT cells, conventional dendritic cells, and inhibition of the proinflammatory Th1/Th17 cells. Thus, type II NKT cells have been shown to be immunosuppressive in autoimmune diseases, inflammatory liver diseases, and in cancer. Knowing their relatively higher prevalence in human than type I NKT cells, understanding their biology is imperative for health and disease.

  3. Determining the association between retinopathy and metabolic syndrome in patients with type 2 diabetes mellitus visiting Mayo Hospital, Lahore

    International Nuclear Information System (INIS)

    Ghani, U.; Niaz, Z.; Cheema, T.M.; Abaidullah, S.; Salman, S.; Latif, F.

    2010-01-01

    Introduction: The metabolic syndrome is a cluster of metabolic abnormalities including abdominal obesity, glucose intolerance, hypertension and dyslipidemia. Diabetic retinopathy is common sequel of diabetes. Objective: To determine the frequency of retinopathy in patients of type 2 diabetes metabolic syndrome. Study Design; Descriptive study. This study was conducted in diabetic clinic of Mayo Hospital, Lahore, from January 17, 2007 to July 16,2007. Methods; Three hundred and sixty patients fulfilling the inclusion criteria were selected for this study and divided into two groups. (Diabetes and with metabolic syndrome) Demographic data of each patient including age, sex, height and weight were collected. Each patient was interviewed about the duration, treatment and complications of diabetes. Data were analyzed by SPSS. P value was calculated by Chi Square test. Results; In group I, the mean height was 1.60 +- 0.08 meters, mean weight was 68.82 +- 7.36 kilograms and mean BMI was 26.38 +- 1.10 kg/m2 and In group II, the mean height was 1.56 +- 0.12 meters, mean weight was 81.58 +- 9.85 kilograms and mean BMI was 33.80 +- 3.61 kg/m/sup 2/. In group I micro aneurysms, dot hemorrhages, blot hemorrhages and hard exudates were found in 12.22% patients. In group II, micro aneurysms, dot hemorrhages, blot hemorrhages and hard exudates were found in 25% patients (p 0.0028). In group I, there were 10.56% patients in which cotton wool spots were found and in group II there were 11.67% patients in which cotton wool spots were found (p 0.0358). In group I, there were 2.78% patients in which new blood vessel formation were found and in group II there were 4.44% patients in which new blood vessel formation was found (p 0.625). Conclusion; It is concluded from this study that frequency of retinopathy is high in patients with metabolic syndrome as compared to patients without metabolic syndrome. (author)

  4. Association between habitual coffee consumption and metabolic syndrome in type 1 diabetes.

    Science.gov (United States)

    Stutz, B; Ahola, A J; Harjutsalo, V; Forsblom, C; Groop, P-H

    2018-02-01

    In the general population, habitual coffee consumption is inversely associated with the metabolic syndrome, a syndrome that is rather common also in patients with type 1 diabetes. However, whether coffee intake is beneficially related to the metabolic syndrome also in type 1 diabetes, is not known. We, therefore, studied the potential association between coffee consumption and the metabolic syndrome in a large population of individuals with type 1 diabetes. Furthermore, we investigated whether coffee consumption is associated with insulin resistance (estimated glucose disposal rate, eGDR), kidney function (estimated glomerular filtration rate, eGFR), and low-grade chronic inflammation (high-sensitivity C-reactive protein, hsCRP). Data from 1040 participants in the Finnish Diabetic Nephropathy Study were included in these cross-sectional analyses. Metabolic syndrome was assumed if at least 3 of the following cardiovascular risk factors were present: central obesity, high blood pressure, low HDL-cholesterol concentration, high triglyceride concentration, and hyperglycaemia. Subjects were categorized based on self-reported daily coffee intake: non-consumers (metabolic syndrome. Moreover, any level of coffee consumption was associated with increased risk of the blood pressure-component. An increasing trend was observed in the eGFR with increasing coffee consumption. In type 1 diabetes, high coffee intake is associated with the metabolic syndrome, and especially its blood pressure-component. Copyright © 2018. Published by Elsevier B.V.

  5. Type IV Ehlers-Danlos Syndrome: A Surgical Emergency? A Case of Massive Retroperitoneal Hemorrhage

    Science.gov (United States)

    Chun, Stephen G; Pedro, Patrick; Yu, Mihae; Takanishi, Danny M

    2011-01-01

    Retroperitoneal hemorrhagic bleeding is a known manifestation of Type-IV Ehlers-Danlos Syndrome that is caused by loss-of-function mutations of the pro-alpha-1 chains of type III pro-collagen (COL3A1) resulting in vascular fragility. A number of previous reports describe futile surgical intervention for retroperitoneal bleeding in Type-IV Ehlers-Danlos Syndrome with high post-operative mortality, although the rarity of retroperitoneal bleeding associated with Type-IV Ehlers-Danlos Syndrome precludes an evidence-based approach to clinical management. We report a 23-year-old male with history of Type-IV Ehlers-Danlos Syndrome who presented with severe abdominal pain and tachycardia following an episode of vomiting. Further work-up of his abdominal pain revealed massive retroperitoneal bleeding by CT-scan of the abdomen. Given numerous cases of catastrophic injury caused by surgical intervention in Type-IV Ehlers-Danlos Syndrome, the patient was treated non-operatively, and the patient made a full recovery. This case suggests that even in cases of large retroperitoneal hemorrhages associated with Ehlers-Danlos Syndrome, it may not truly represent a surgical emergency. PMID:21966332

  6. Angiotensin II Regulates Th1 T Cell Differentiation Through Angiotensin II Type 1 Receptor-PKA-Mediated Activation of Proteasome.

    Science.gov (United States)

    Qin, Xian-Yun; Zhang, Yun-Long; Chi, Ya-Fei; Yan, Bo; Zeng, Xiang-Jun; Li, Hui-Hua; Liu, Ying

    2018-01-01

    Naive CD4+ T cells differentiate into T helper cells (Th1 and Th2) that play an essential role in the cardiovascular diseases. However, the molecular mechanism by which angiotensin II (Ang II) promotes Th1 differentiation remains unclear. The aim of this study was to determine whether the Ang II-induced Th1 differentiation regulated by ubiquitin-proteasome system (UPS). Jurkat cells were treated with Ang II (100 nM) in the presence or absence of different inhibitors. The gene mRNA levels were detected by real-time quantitative PCR analysis. The protein levels were measured by ELISA assay or Western blot analysis, respectively. Ang II treatment significantly induced a shift from Th0 to Th1 cell differentiation, which was markedly blocked by angiotensin II type 1 receptor (AT1R) inhibitor Losartan (LST). Moreover, Ang II significantly increased the activities and the expression of proteasome catalytic subunits (β1, β1i, β2i and β5i) in a dose- and time-dependent manner. However, Ang II-induced proteasome activities were remarkably abrogated by LST and PKA inhibitor H-89. Mechanistically, Ang II-induced Th1 differentiation was at least in part through proteasome-mediated degradation of IκBα and MKP-1 and activation of STAT1 and NF-κB. This study for the first time demonstrates that Ang II activates AT1R-PKA-proteasome pathway, which promotes degradation of IκBα and MKP-1 and activation of STAT1 and NF-κB thereby leading to Th1 differentiation. Thus, inhibition of proteasome activation might be a potential therapeutic target for Th1-mediated diseases. © 2018 The Author(s). Published by S. Karger AG, Basel.

  7. Inflammation characteristics in bladder pain syndrome ESSIC type 3C/classic interstitial cystitis.

    Science.gov (United States)

    Logadottir, Yr; Delbro, Dick; Lindholm, Catharina; Fall, Magnus; Peeker, Ralph

    2014-04-01

    Interstitial cystitis is regarded as a heterogenous syndrome with two distinguishable forms: the non-ulcer and the classic form of interstitial cystitis, the latter with Hunner's lesions; or bladder pain syndrome type 3C and non-Hunner bladder pain syndrome, respectively. A cohort of 379 patients diagnosed with interstitial cystitis was studied. Nitric oxide release from the bladder was measured using a chemiluminescence nitric oxide analyzer. Bladder biopsies from the patients and healthy controls were analyzed by routine histopathological examination. Biopsies from a subset of patients and controls were also analyzed by immunohistochemistry and cytokine gene expression by real-time polymerase chain reaction. Patients with bladder pain syndrome type 3C/classic interstitial cystitis had considerably higher levels of nitric oxide as compared with non-Hunner bladder pain syndrome/non-ulcer interstitial cystitis patients and healthy individuals, and showed histologically a chronic inflammation in the bladder mucosa, with abundant mast cell infiltration in all layers of the bladder wall. No inflammation was noted in non-Hunner bladder pain syndrome/non-ulcer interstitial cystitis patients. The isoenzymes inducible nitric oxide synthase, the catalyst in the nitric oxide production, was strongly expressed in the inflammatory cells in the bladder mucosa of bladder pain syndrome type 3C/classic interstitial cystitis patients. In addition, the expression of the pro-inflammatory cytokines interleukin-6 and interleukin-17A messenger ribonucleic acid, and of anti-inflammatory interleukin-10 messenger ribonucleic acid showed significantly increased levels in bladder pain syndrome type 3C/classic interstitial cystitis compared with healthy controls. Bladder pain syndrome type 3C/classic interstitial cystitis is a distinct inflammatory disease and in many aspects shares features of inflammatory autoimmune diseases. These findings could open up novel research avenues with

  8. Blepharophimosis, ptosis, epicanthus inversus syndrome type 2 with ...

    African Journals Online (AJOL)

    Rabah M. Shawky

    2015-01-08

    Jan 8, 2015 ... Our patient had normal psychomotor development. His father was similarly affected suggesting autosomal dominant inheritance. The patient had red brown hair, lymphedema of lower limbs and kidney stones which were not reported before with this syndrome. Most probably these additional features are ...

  9. Blepharophimosis, ptosis, epicanthus inversus syndrome type 2 with ...

    African Journals Online (AJOL)

    Our patient had normal psychomotor development. His father was similarly affected suggesting autosomal dominant inheritance. The patient had red brown hair, lymphedema of lower limbs and kidney stones which were not reported before with this syndrome. Most probably these additional features are associations with ...

  10. Acute coronary syndromes amongst type 2 diabetics with ischaemic ...

    African Journals Online (AJOL)

    Majority had three coronary artery disease (CAD) risk factors: obesity 86%, elevated LDL 73% and hypertension 60%. Therapy in use was OHA 43%, insulin 42%, insulin and OHA 1%; prophylactic aspirin 14.7% and statins 8.4%. Thirty four (35.8%) were classified as acute coronary syndrome (ACS); 29 ( 30.5%) acute ...

  11. Family Therapy of the Moderate Type of Parental Alienation Syndrome.

    Science.gov (United States)

    Gardner, Richard A.

    1999-01-01

    Modification of traditional family therapy approaches are warranted if there is to be any chance of success in the treatment of Parental Alienation Syndrome families. Especially important is the full support of the court. Describes the special family therapeutic techniques warranted in the treatment of families in which the Parental Alienation…

  12. Genetics Home Reference: bare lymphocyte syndrome type I

    Science.gov (United States)

    ... A, de la Salle H, Fricker D, Hentges F, Zimmer J. HLA class I deficiency syndrome mimicking Wegener's granulomatosis. Arthritis ... J, Andrès E, Donato L, Hanau D, Hentges F, de la Salle H. Clinical and immunological aspects of HLA class I deficiency. QJM. 2005 Oct;98(10): ...

  13. Klinefelter's Syndrome with Seizure, Pseudohypoparathyroidism Type Ib and Multiple Endocrine Dysfunctions

    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.

  14. Diabetes-associated dry eye syndrome in a new humanized transgenic model of type 1 diabetes.

    Science.gov (United States)

    Imam, Shahnawaz; Elagin, Raya B; Jaume, Juan Carlos

    2013-01-01

    Patients with Type 1 Diabetes (T1D) are at high risk of developing lacrimal gland dysfunction. We have developed a new model of human T1D using double-transgenic mice carrying HLA-DQ8 diabetes-susceptibility haplotype instead of mouse MHC-class II and expressing the human beta cell autoantigen Glutamic Acid Decarboxylase in pancreatic beta cells. We report here the development of dry eye syndrome (DES) after diabetes induction in our humanized transgenic model. Double-transgenic mice were immunized with DNA encoding human GAD65, either naked or in adenoviral vectors, to induce T1D. Mice monitored for development of diabetes developed lacrimal gland dysfunction. Animals developed lacrimal gland disease (classically associated with diabetes in Non Obese Diabetic [NOD] mice and with T1D in humans) as they developed glucose intolerance and diabetes. Animals manifested obvious clinical signs of dry eye syndrome (DES), from corneal erosions to severe keratitis. Histological studies of peri-bulbar areas revealed lymphocytic infiltration of glandular structures. Indeed, infiltrative lesions were observed in lacrimal/Harderian glands within weeks following development of glucose intolerance. Lesions ranged from focal lymphocytic infiltration to complete acinar destruction. We observed a correlation between the severity of the pancreatic infiltration and the severity of the ocular disease. Our results demonstrate development of DES in association with antigen-specific insulitis and diabetes following immunization with clinically relevant human autoantigen concomitantly expressed in pancreatic beta cells of diabetes-susceptible mice. As in the NOD mouse model and as in human T1D, our animals developed diabetes-associated DES. This specific finding stresses the relevance of our model for studying these human diseases. We believe our model will facilitate studies to prevent/treat diabetes-associated DES as well as human diabetes.

  15. Mapping the brain in type II diabetes: Voxel-based morphometry using DARTEL

    Energy Technology Data Exchange (ETDEWEB)

    Chen, Zhiye [Department of Radiology, PLA General Hospital, 28 Fuxing Road, Beijing 100853 (China); Li, Lin [Department of Geriatric Endocrinology, PLA General Hospital, Beijing 100853 (China); Sun, Jie [Department of Endocrinology, PLA General Hospital, Beijing 100853 (China); Ma, Lin, E-mail: cjr.malin@vip.163.com [Department of Radiology, PLA General Hospital, 28 Fuxing Road, Beijing 100853 (China)

    2012-08-15

    Purpose: To investigate the pattern of brain volume changes of the brain in patients with type II diabetes mellitus using voxel-based morphometry. Material and methods: Institutional ethics approval and informed consent were obtained. VBM based on the high resolution three-dimensional T1-weighted fast spoiled gradient recalled echo MRI images was obtained from 16 type II diabetes patients (mean age 61.2 years) and 16 normal controls (mean age 59.6 years). All images were spatially preprocessed using Diffeomorphic Anatomical Registration using Exponentiated Lie algebra (DARTEL) algorithm, and the DARTEL templates were made from 100 normal subjects. Statistical parametric mapping was generated using analysis of covariance (ANCOVA). Results: An atrophy pattern of gray matter was seen in type II diabetes patients compared with controls that involved the right superior, middle, and inferior temporal gyri, right precentral gyrus, and left rolandic operculum region. The loss of white matter volume in type II diabetes mellitus was observed in right temporal lobe and left inferior frontal triangle region. ROI analysis revealed that the gray and white matter volume of right temporal lobe were significant lower in type II diabetes mellitus than that in controls (P < 0.05). Conclusion: This work demonstrated that type II diabetes mellitus patients mainly exhibited gray and white matter atrophy in right temporal lobe, and this finding supported that type II diabetes mellitus could lead to subtle diabetic brain structural changes in patients without dementia or macrovascular complications.

  16. Mapping the brain in type II diabetes: Voxel-based morphometry using DARTEL

    International Nuclear Information System (INIS)

    Chen, Zhiye; Li, Lin; Sun, Jie; Ma, Lin

    2012-01-01

    Purpose: To investigate the pattern of brain volume changes of the brain in patients with type II diabetes mellitus using voxel-based morphometry. Material and methods: Institutional ethics approval and informed consent were obtained. VBM based on the high resolution three-dimensional T1-weighted fast spoiled gradient recalled echo MRI images was obtained from 16 type II diabetes patients (mean age 61.2 years) and 16 normal controls (mean age 59.6 years). All images were spatially preprocessed using Diffeomorphic Anatomical Registration using Exponentiated Lie algebra (DARTEL) algorithm, and the DARTEL templates were made from 100 normal subjects. Statistical parametric mapping was generated using analysis of covariance (ANCOVA). Results: An atrophy pattern of gray matter was seen in type II diabetes patients compared with controls that involved the right superior, middle, and inferior temporal gyri, right precentral gyrus, and left rolandic operculum region. The loss of white matter volume in type II diabetes mellitus was observed in right temporal lobe and left inferior frontal triangle region. ROI analysis revealed that the gray and white matter volume of right temporal lobe were significant lower in type II diabetes mellitus than that in controls (P < 0.05). Conclusion: This work demonstrated that type II diabetes mellitus patients mainly exhibited gray and white matter atrophy in right temporal lobe, and this finding supported that type II diabetes mellitus could lead to subtle diabetic brain structural changes in patients without dementia or macrovascular complications.

  17. Type II1 factors satisfying the spatial isomorphism conjecture

    DEFF Research Database (Denmark)

    Cameron, Jan; Christensen, Erik; Sinclair, Allan M.

    2012-01-01

    Det vises at hvis et par af von Neumann algebraer er tilstrækkeligt tæt på hinanden i Hausdorff-metrikken, og den ene er en II1 faktor, som er et krydset produkt af en abelsk von Neumann algebra med en gruuppvirkning af en gruppe men triviel begrænset kohomologi, så er de to algebraer unitært...

  18. Evaluation of Cladribine treatment in refractory celiac disease type II

    Science.gov (United States)

    Tack, Greetje J; Verbeek, Wieke HM; Al-Toma, Abdul; Kuik, Dirk J; Schreurs, Marco WJ; Visser, Otto; Mulder, Chris JJ

    2011-01-01

    AIM: To evaluate cladribine [2-chlorodeoxyadenosine (2-CdA)] therapy in refractory celiac disease (RCD) II. METHODS: An open-label cohort-study of RCD II patients treated with 2-CdA was performed between 2000 and 2010. Survival rate, enteropathy associated T-cell lymphoma (EATL) occurrence, clinical course, and histological and immunological response rates were evaluated. RESULTS: Overall, 32 patients were included with a median follow-up of 31 mo. Eighteen patients responded well to 2-CdA. Patients responsive to 2-CdA had a statistically significant increased survival compared to those who were unresponsive. The overall 3- and 5-year survival was 83% in the responder and 63% and 22% in the non-responder group, respectively. The overall 2-year clinical, histological and immunological response rates were 81%, 47% and 41%, respectively. Progression into EATL was reported in 16%, all of these patients died. CONCLUSION: Treatment of RCD II with 2-CdA holds promise, showing excellent clinical and histological response rates, and probably less frequent transition into EATL. PMID:21274381

  19. Direct Angiotensin II Type 2 Receptor Stimulation Ameliorates Insulin Resistance in Type 2 Diabetes Mice with PPARγ Activation

    DEFF Research Database (Denmark)

    Ohshima, Kousei; Mogi, Masaki; Jing, Fei

    2012-01-01

    The role of angiotensin II type 2 (AT(2)) receptor stimulation in the pathogenesis of insulin resistance is still unclear. Therefore we examined the possibility that direct AT(2) receptor stimulation by compound 21 (C21) might contribute to possible insulin-sensitizing/anti-diabetic effects in type...... 2 diabetes (T2DM) with PPARγ activation, mainly focusing on adipose tissue....

  20. Bronchoalveolar lavage fluid from normal rats stimulates DNA synthesis in rat alveolar type II cells

    International Nuclear Information System (INIS)

    Leslie, C.C.; McCormick-Shannon, K.; Mason, R.J.

    1989-01-01

    Proliferation of alveolar type II cells after lung injury is important for the restoration of the alveolar epithelium. Bronchoalveolar lavage fluid (BALF) may represent an important source of growth factors for alveolar type II cells. To test this possibility, BALF fluid was collected from normal rats, concentrated 10-fold by Amicon filtration, and tested for its ability to stimulate DNA synthesis in rat alveolar type II cells in primary culture. BALF induced a dose-dependent increase in type II cell DNA synthesis resulting in a 6-fold increase in [3H]thymidine incorporation. Similar doses also stimulated [3H]thymidine incorporation into rat lung fibroblasts by 6- to 8-fold. Removal of pulmonary surface active material by centrifugation did not significantly reduce the stimulatory activity of BALF for type II cells. The stimulation of type II cell DNA synthesis by BALF was reduced by 100% after heating at 100 degrees C for 10 min, and by approximately 80% after reduction with dithiothreitol, and after trypsin treatment. Dialysis of BALF against 1 N acetic acid resulted in a 27% reduction in stimulatory activity. The effect of BALF in promoting type II cell DNA synthesis was more pronounced when tested in the presence of serum, although serum itself has very little effect on type II cell DNA synthesis. When BALF was tested in combination with other substances that stimulate type II cell DNA synthesis (cholera toxin, insulin, epidermal growth factor, and acidic fibroblast growth factor), additive effects or greater were observed. When BALF was chromatographed over Sephadex G150, the activity eluted with an apparent molecular weight of 100 kDa

  1. THE CONNECTIONS BETWEEN THE UV AND OPTICAL Fe ii EMISSION LINES IN TYPE 1 AGNs

    Energy Technology Data Exchange (ETDEWEB)

    Kovacević-Dojcinović, Jelena; Popović, Luka Č., E-mail: jkovacevic@aob.bg.ac.rs, E-mail: lpopovic@aob.bg.ac.rs [Astronomical Observatory, Volgina 7, 11060 Belgrade (Serbia)

    2015-12-15

    We investigate the spectral properties of the UV (λλ2650–3050 Å) and optical (λλ4000–5500 Å) Fe ii emission features in a sample of 293 Type 1 active galactic nuclei (AGNs) from the Sloan Digital Sky Survey database. We explore different correlations between their emission line properties, as well as the correlations with other emission lines from the spectral range. We find several interesting correlations and outline the most interesting results as follows. (i) There is a kinematical connection between the UV and optical Fe ii lines, indicating that the UV and optical Fe ii lines originate from the outer part of the broad line region, the so-called intermediate line region. (ii) The unexplained anticorrelations of the optical Fe ii equivalent width (EW Fe ii{sub opt}) versus EW [O iii] 5007 Å and EW Fe ii{sub opt} versus FWHM Hβ have not been detected for the UV Fe ii lines. (iii) The significant averaged redshift in the UV Fe ii lines, which is not present in optical Fe ii, indicates an inflow in the UV Fe ii emitting clouds, and probably their asymmetric distribution. (iv) Also, we confirm the anticorrelation between the intensity ratio of the optical and UV Fe ii lines and the FWHM of Hβ, and we find the anticorrelations of this ratio with the widths of Mg ii 2800 Å, optical Fe ii, and UV Fe ii. This indicates a very important role for the column density and microturbulence in the emitting gas. We discuss the starburst activity in high-density regions of young AGNs as a possible explanation of the detected optical Fe ii correlations and intensity line ratios of the UV and optical Fe ii lines.

  2. [Clinical manifestation and patho-typing of biliary cast syndrome in patients after orthotopic liver transplantation].

    Science.gov (United States)

    Zhu, Xiao-Dan; Shen, Zhong-Yang; Chen, Xin-Guo; Zang, Yun-Jin

    2008-05-15

    To summarize the Patho-typing and the clinical manifestation of biliary cast syndrome (BCS) in patients after orthotopic liver transplantation. The clinical manifestation, findings,therapeutic means and efficacy of 103 patients with biliary cast syndrome after orthotopic liver transplantation were retrospectively analyzed. According to the injury level of biliary duct epithelium, patients were divided into different groups. All cases were followed up for twelve months. The place, degree and time after operation would be recorded when non-anastomotic biliary stricture was found. There were 59 BCS cases in the general hospital of armed police force of China. The incidence rate of BCS was 9.1%. Many BCS patients showed symptoms such as jaundice, deep urine color, gray stools, itch of skin and fever. Some were asymptomatic. In laboratory test, the liver functional enzyme in serum were increased, the total white cell count in peripheral blood was increased either. Cholangiography via T tube of biliary tract might show filling defect. According to the change degree of the biliary tract tree, there were four types filling defect concluded from all the presentation in BCS patients. Solid obturation of biliary tract were found by the check with optical fiber choledochoscope in all BCS patients, necrosis of biliary tract epithelium were observed in partial BCS patients. According to the injury level of biliary duct epithelium (gradually aggravated), BCS patients were divided into six groups (type I, type II, type III, type IV, type V and type VI). Fourteen cases were found in type I and 18 in type II. No clinical symptom was found in these two groups, a few indicators in serum (alanine aminotransferase ALT, total bilirubin TBIL, direct bilirubin DBIL) were in normal range, and others (gamma-glutamyl transferase GGT, alkaline phosphatase ALP) were heightened in 5 patients. There was no biliary cast (BC) found anymore in the period of follow-up in two groups. No stricture was

  3. Germinal mosaicism of PAX3 mutation caused Waardenburg syndrome type I.

    Science.gov (United States)

    Chen, Kaitian; Zhan, Yuan; Wu, Xuan; Zong, Ling; Jiang, Hongyan

    2018-01-01

    Waardenburg syndrome mutations are most often recurrent or de novo. The rate of familial recurrence is low and families with several affected children are extremely rare. In this study, we aimed to clarify the underlying hereditary cause of Waardenburg syndrome type I in two siblings in a Chinese family, with a mother affected by prelingual mild hearing loss and a father who was negative for clinical symptoms of Waardenburg syndrome and had a normal hearing threshold. Complete characteristic features of the family members were recorded and genetic sequencing and parent-child relationship analyses were performed. The two probands were found to share double mutations in the PAX3/GJB2 genes that caused concurrent hearing loss in Waardenburg syndrome type I. Their mother carried the GJB2 c.109G > A homozygous mutation; however, neither the novel PAX3 c.592delG mutation, nor the Waardenburg syndrome phenotype, was observed in either parent. These previously unreported digenic mutations in PAX3/GJB2 resulted in deafness associated with Waardenburg syndrome type I in this family. To our knowledge, this is the first report describing germinal mosaicism in Waardenburg syndrome. This concept is important because it complicates genetic counseling of this family regarding the risk of recurrence of the mutations in subsequent pregnancies. Copyright © 2017 Elsevier B.V. All rights reserved.

  4. Pathophysiology of the cardio-renal syndromes types 1-5: An uptodate.

    Science.gov (United States)

    Di Lullo, L; Bellasi, A; Barbera, V; Russo, D; Russo, L; Di Iorio, B; Cozzolino, M; Ronco, C

    According to the recent definition proposed by the Consensus conference on Acute Dialysis Quality Initiative Group, the term cardio-renal syndrome (CRS) has been used to define different clinical conditions in which heart and kidney dysfunction overlap. Type 1 CRS (acute cardio- renal syndrome) is characterized by acute worsening of cardiac function leading to AKI (5, 6) in the setting of active cardiac disease such as ADHF, while type - 2 CRS occurs in a setting of chronic heart disease. Type 3 CRS is closely link to acute kidney injury (AKI), while type 4 represent cardiovascular involvement in chronic kidney disese (CKD) patients. Type 5 CRS represent cardiac and renal involvement in several diseases such as sepsis, hepato - renal syndrome and immune - mediated diseases. Copyright © 2017 Cardiological Society of India. Published by Elsevier B.V. All rights reserved.

  5. Drusen-like beneath retinal deposits in type II mesangiocapillary glomerulonephritis: a review

    Directory of Open Access Journals (Sweden)

    Miguel Hage Amaro

    2015-02-01

    Full Text Available The aim of this paper is to do a review of Drusen-like beneath retinal deposits in type II mesangiocapillary glomerulonephritis. Drusenlike beneath retinal deposits in type II mesangiocapillary glomerulonephritis appear to develop at an early age, often second decade of life different of drusen from age-related macular degeneration (AMD.Long term follow-up of the cases in this disease shows in the most of them, no progression of the of drusen-like beneath retinal deposits in type II mesangiocapillary glomerulonefritis, the most of subjects retain good visual acuity and no specific treatment is indicated.

  6. Recognition of lysophosphatidylcholine by type II NKT cells and protection from an inflammatory liver disease.

    Science.gov (United States)

    Maricic, Igor; Girardi, Enrico; Zajonc, Dirk M; Kumar, Vipin

    2014-11-01

    Lipids presented by the MHC class I-like molecule, CD1d, are recognized by NK T (NKT) cells, which can be broadly categorized into two subsets. The well-characterized type I NKT cells express a semi-invariant TCR and can recognize both α- and β-linked glycolipids, whereas type II NKT cells are less well studied, express a relatively diverse TCR repertoire, and recognize β-linked lipids. Recent structural studies have shown a distinct mode of recognition of a self-glycolipid sulfatide bound to CD1d by a type II NKT TCR. To further characterize Ag recognition by these cells, we have used the structural data and screened other small molecules able to bind to CD1d and activate type II NKT cells. Using plate-bound CD1d and APC-based Ag presentation assay, we found that phospholipids such as lysophosphatidylcholine (LPC) can stimulate the sulfatide-reactive type II NKT hybridoma Hy19.3 in a CD1d-dependent manner. Using plasmon resonance studies, we found that this type II NKT TCR binds with CD1d-bound LPC with micromolar affinities similar to that for sulfatide. Furthermore, LPC-mediated activation of type II NKT cells leads to anergy induction in type I NKT cells and affords protection from Con A-induced hepatitis. These data indicate that, in addition to self-glycolipids, self-lysophospholipids are also recognized by type II NKT cells. Because lysophospholipids are involved during inflammation, our findings have implications for not only understanding activation of type II NKT cells in physiological settings, but also for the development of immune intervention in inflammatory diseases. Copyright © 2014 by The American Association of Immunologists, Inc.

  7. The Influence of Insurance Type on Management of Carpal Tunnel Syndrome: An Analysis of Nationwide Practice Trends.

    Science.gov (United States)

    Sears, Erika D; Swiatek, Peter R; Hou, Hechuan; Chung, Kevin C

    2016-11-01

    The purpose of this study was to evaluate the impact of insurance type on use of diagnostic testing, treatments, and the efficiency of care for patients with carpal tunnel syndrome. The 2009 to 2013 Truven MarketScan Databases were used to identify adult patients with carpal tunnel syndrome. Insurance type was categorized as fee-for-service versus capitated managed care. Multivariable regression models were created to evaluate the relationship between insurance type and costs, number of visits, treatment, and electrodiagnostic study use, and controlling for demographic characteristics and comorbidities. The cohort included 233,572 patients, of which 86 percent carried fee-for-service insurance. Predicted probabilities were clinically similar between the capitated and fee-for-service insurance types for therapy (0.23 versus 0.24), steroid injection (0.07 versus 0.09), and electrodiagnostic study use (0.44 versus 0.47). The difference in predicted probabilities between the insurance groups was greatest for surgery use (0.22 versus 0.28 for managed care and fee-for-service, respectively). The mean number of visits was similar between the two groups (2.1 versus 2.0 visits). In the controlled analysis, managed care was associated with a 10 percent decrease in cost compared to patients with fee-for-service (p trends with increased implementation of bundled payment reimbursement. Routine collection of validated patient outcomes measures is critical to assess patient outcomes associated with anticipated reduction of surgical services. Risk, II.

  8. Night eating syndrome in class II-III obesity: metabolic and psychopathological features.

    Science.gov (United States)

    Calugi, S; Dalle Grave, R; Marchesini, G

    2009-08-01

    To investigate the relationship of metabolic disorders and psychological features with the night eating syndrome (NES) in individuals with moderate-to-severe obesity. Cross-sectional observation. A total of 266 consecutive participants with class II-III obesity, entering an inpatient weight loss program. Participants who reported consuming either a large amount of their caloric intake after the evening meal (roughly self-assessed as > or =25% of daily calories) or the presence of nocturnal feeding at the Night Eating Questionnaire (NEQ) (N=49) were interviewed by the Night Eating Syndrome History and Inventory (NESHI). Assessment also included the clinical/biochemical parameters of the metabolic syndrome and several questionnaires of psychopathology. NES was diagnosed by NESHI criteria (evening hyperphagia (> or =25% of daily food intake after the evening meal) and/or waking at night to eat at least three times a week) in the last 3 months. Twenty-seven participants (10.1%) met NESHI criteria. Differences were not observed between participants with and without NES as to age, body mass index (BMI), prevalence of metabolic syndrome, Binge Eating Scale and Body Shape Questionnaire. NES participants had significantly higher scores of Beck Depression Inventory (BDI) and Impact of Weight on Quality of Life (IWQOL). Among NES cases, the BDI score was indicative of moderate depression in 18.5% of cases and of severe depression in 44.4%. Logistic regression analysis, adjusted for confounders, identified the BDI score as the only variable significantly associated with the diagnosis of NES. Diagnosing NES does not help identify obese individuals with specific medical complications, but indicates more severe psychological distress and depression.

  9. Phantom eye syndrome: types of visual hallucinations and related phenomena

    DEFF Research Database (Denmark)

    Roed Rasmussen, Marie Louise; Prause, Jan U; Johnson, Martin

    2009-01-01

    PURPOSE: To describe the prevalence of phantom eye syndrome in eye-amputated patients, to give a description of visual hallucinations, and to identify triggers, stoppers, and emotions related to visual hallucinations. METHODS: The hospital database was screened, using surgery codes for patients who...... had received ocular evisceration, enucleation, or secondary implantation of an orbital implant in the period 1993-2003. A total of 267 patients was found and invited to participate, 173 accepted. Patients who accepted participation had their records reviewed, and a structured interview about visual...... hallucinations and pain was performed by one trained questioner (M.L.R.R.). RESULTS: The prevalence of phantom eye syndrome was 51%. Elementary visual hallucinations were present in 36%, complex visual hallucinations in only 1%, and other visual hallucinations in 14%. The elementary visual hallucinations were...

  10. Wolfram syndrome: A rare mimic of type 1 diabetes mellitus

    Directory of Open Access Journals (Sweden)

    Manish Gutch

    2016-01-01

    Full Text Available Wolfram syndrome is a rare autosomal recessive disorder characterized by a constellation of disorders also known as diabetes insipidus, diabetes mellitus (DM, optic atrophy, and deafness. Patients present with DM and optic atrophy in the first decade, diabetes insipidus and sensorineural deafness in the second decade, and renal outflow tract anomalies and other neurological manifestations later in life. We report a case of a 14-year-old boy who was diagnosed with insulin-dependent DM and subsequently discovered to have optic atrophy, sensorineural hearing loss, and cardiovascular defect with a positive family history. Such cases need to be evaluated thoroughly with respect to Wolfram syndrome and its associated anomalies.

  11. Design of coke ovens. Part II. Types of coke ovens

    Energy Technology Data Exchange (ETDEWEB)

    Sroka, E.; Haratyk, J.

    1983-08-01

    Design of 4 coke oven types is discussed: H. Koppers ovens, PWR ovens (developed by Giprokoks in the USSR), Koppers-Becker ovens and Nittetsu ovens. Design of each coke oven type is shown in a scheme. Distribution of heat and heat control in the heating walls of coke ovens are analyzed: burners, distribution of flue channels in heating walls, systems for temperature control of gases in flue channels. Gas flow in flue channels of 4 coke oven types is evaluated. Effects of coke oven design on its performance and on coke quality are also discussed.

  12. Mutations in PAX3 that cause Waardenburg syndrome type I: Ten new mutations and review of the literature

    Energy Technology Data Exchange (ETDEWEB)

    Baldwin, C.T.; Hoth, C.F.; Milunsky, A. [Boston Univ. School of Medicine, MA (United States)] [and others

    1995-08-28

    Waardenburg syndrome (WS) is an autosomal-dominant disorder characterized by sensorineural hearing loss, dystopia canthorum, and pigmentary disturbances, and it represents the most common form of inherited deafness in infants. WS type I is characterized by the presence of dystopia canthorum, while individuals with WS type II have normally-located canthi. WS type III is similar to WS type I but is also characterized by musculoskeletal abnormalities. Defects in the PAX3 gene, a transcription factor expressed during embryonic development, have been shown to cause WS types I and III in several families. In contrast, mutations in PAX3 do not cause WS type II, and linkage of the disease to other chromosomal regions has been demonstrated. We describe 10 additional mutations in the PAX3 gene in families with WS type I. Eight of these mutations are in the region of PAX3, where only one mutation has been previously described. These mutations, together with those previously reported, cover essentially the entire PAX3 gene and represent a wide spectrum of mutations that can cause WS type I. Thus far, all but one of the mutations are private; only one mutation has been reported in two apparently unrelated families. Our analysis thus far demonstrates little correlation between genotype and phenotype; deletions of the entire PAX3 gene result in phenotypes indistinguishable from those associated with single-base substitutions in the paired domain or homeodomain of PAX3. Moreover, two similar mutations in close proximity can result in significantly different phenotypes, WS type I in one family and WS type III in another. 47 refs., 3 figs., 5 tabs.

  13. Type 2 Pfeiffer syndrome. Report of a case and review of the literature

    Directory of Open Access Journals (Sweden)

    Roldán Arce Jorge

    2014-07-01

    Full Text Available Pfeiffer syndrome is a rare autosomal dominant disease that affects almost 1 out of every 100,000 live newborns, and it is associated with craniosynostosis, broad and deviated thumbs and big toes, and partial syndactyly in hands and feet. Three types of this syndrome have been described based on the presence of other abnormalities and the severity of the condition. “Classic” type 1 consists of mild severity with normal to near-normal intelligence and generally a good prognosis. Type 2 is characterized by a cloverleaf skull, severe proptosis, elbow ankylosis or synostosis, growth retardation and life-threatening neurological and respiratory complications. Type 3 is similar to type 2 but without the cloverleaf cranium. This syndrome is genetically heterogeneous, it is caused by mutations in the fibroblast growth factor receptor genes FGFR- 1 or FGFR-2. Occasionally Pfeiffer syndrome can be diagnosed prenatally by sonography or molecularly if the causative mutation is known. Management must be multidisciplinary and it includes multiple-staged surgery. In this report we present the clinical and radiographic findings in female newborn, whose clinical features were consistent with Pfeiffer syndrome type 2. A brief updated review of the literature is included.

  14. Plasma Glucose and Serum Ceruloplasmin in Metabolic Syndrome and Diabetes Mellitus Type 2

    Directory of Open Access Journals (Sweden)

    Ashok Kumar Jeppu

    2016-04-01

    Full Text Available Diabetes mellitus type 2 and metabolic syndrome are conditions associated with insulin resistance and hyperglycemia. Metabolic syndrome is a risk factor for diabetes mellitus type 2. Plasma glucose (fasting/postprandial and serum ceruloplasmin levels and their relationship were studied. Study population consisted of 150 individuals—50 individuals with diabetes mellitus type 2, 50 individuals with metabolic syndrome, and 50 age- and sex-matched healthy controls. Plasma levels of fasting and postprandial glucose were measured along with serum ceruloplasmin. Data was analyzed by ANOVA and Pearson correlation. The fasting and postprandial plasma glucose levels in metabolic syndrome and diabetes mellitus type 2 were increased when compared to control. Serum ceruloplasmin level was 327.8 ± 68.9 in control, 227.3 ± 46.8 in metabolic syndrome, and 194.0 ± 49.6 in diabetes mellitus type 2 individuals. There was a statistically significant negative correlation between the fasting, postprandial plasma glucose, and serum ceruloplasmin in type 2 diabetes mellitus.

  15. An Angiotensin II type 1 receptor activation switch patch revealed through Evolutionary Trace analysis

    DEFF Research Database (Denmark)

    Bonde, Marie Mi; Yao, Rong; Ma, Jian-Nong

    2010-01-01

    in the cytoplasmic parts of TM2, TM3, and TM6 to form an activation switch that is common to all family A 7TM receptors. We tested this hypothesis in the rat Angiotensin II (Ang II) type 1a (AT1a) receptor. The receptor has important roles in the cardiovascular system, but has also frequently been applied as a model...

  16. Design and synthesis of ruthenium(II) OCO pincer type NHC ...

    Indian Academy of Sciences (India)

    well-defined, air and moisture-stable tridentate type bis- phenolate ruthenium(II) N−heterocyclic carbene com- plexes. Herein, we report a full account on our studies of ruthenium(II) N-heterocyclic carbene catalysts in the dehydrogenative amide synthesis from alcohols with amines. 2. Experimental. 2.1 General comments.

  17. Calmodulin dependent protein kinase II activation by exercise regulates saturated & unsaturated fatty acids and improves some metabolic syndrome markers.

    Science.gov (United States)

    Mukwevho, Emmanuel; Joseph, Jitcy S

    2014-08-28

    Activation of Calmodulin dependent protein kinase (CaMK)-II by exercise has a plethora of benefits in health. Fatty acids play a pivotal role in the pathogenesis of metabolic syndrome (MetS). Prevention of MetS and treatment of its main characteristics are very significant to fight against type 2 diabetes. CaMKII activation in the regulation of saturated and unsaturated fatty acids in relation to type 2 diabetes and MetS has not been studied, which became the focus of this present study. Using Gas chromatography-Mass spectrometry, we investigated saturated fatty acids and unsaturated fatty acids. Quantitative real time PCR was also used to assess the gene expression. Results indicate that both palmitoleic acid and oleic acid which are monounsaturated fatty acids were increased in response to CaMKII activation. On the other hand, myristic acid and palmitic acid which are saturated fatty acids known to increase the risk factors of MetS and type 2 diabetes were decreased by exercise induction of CaMKII. Conversely, lauric acid also a saturated fatty acid was increased in response to CaMKII activation by exercise. This fatty acid is known to have beneficial effects in alleviating symptoms of both type 2 diabetes and MetS. According to our knowledge, this is the first study to show that CaMKII activation by exercise regulates fatty acids essential in type 2 diabetes and MetS. CaMKII can be an avenue of designing novel therapeutic drugs in the management and treatment of type 2 diabetes and MetS. Copyright © 2014 Elsevier Inc. All rights reserved.

  18. A case of osteogenesis imperfecta type II, a diagnosis made almost ...

    African Journals Online (AJOL)

    Background: Osteogenesis imperfecta (OI) is a rare autosomal dominant disorder of type I collagen (COL I), characterised by excessive bone fragility with low bone mineral density (BMD). Type II is associated with extreme bone fragility leading to intrauterine or early infant death. Objective: To highlight a case of OI type II ...

  19. CD1d-Restricted Type II NKT Cells Reactive With Endogenous Hydrophobic Peptides.

    Science.gov (United States)

    Nishioka, Yusuke; Masuda, Sakiko; Tomaru, Utano; Ishizu, Akihiro

    2018-01-01

    NKT cells belong to a distinct subset of T cells that recognize hydrophobic antigens presented by major histocompatibility complex class I-like molecules, such as CD1d. Because NKT cells stimulated by antigens can activate or suppress other immunocompetent cells through an immediate production of a large amount of cytokines, they are regarded as immunological modulators. CD1d-restricted NKT cells are classified into two subsets, namely, type I and type II. CD1d-restricted type I NKT cells express invariant T cell receptors (TCRs) and react with lipid antigens, including the marine sponge-derived glycolipid α-galactosylceramide. On the contrary, CD1d-restricted type II NKT cells recognize a wide variety of antigens, including glycolipids, phospholipids, and hydrophobic peptides, by their diverse TCRs. In this review, we focus particularly on CD1d-restricted type II NKT cells that recognize endogenous hydrophobic peptides presented by CD1d. Previous studies have demonstrated that CD1d-restricted type I NKT cells usually act as pro-inflammatory cells but sometimes behave as anti-inflammatory cells. It has been also demonstrated that CD1d-restricted type II NKT cells play opposite roles to CD1d-restricted type I NKT cells; thus, they function as anti-inflammatory or pro-inflammatory cells depending on the situation. In line with this, CD1d-restricted type II NKT cells that recognize type II collagen peptide have been demonstrated to act as anti-inflammatory cells in diverse inflammation-induction models in mice, whereas pro-inflammatory CD1d-restricted type II NKT cells reactive with sterol carrier protein 2 peptide have been demonstrated to be involved in the development of small vessel vasculitis in rats.

  20. Binge eating and other psychopathology in patients with type II diabetes mellitus.

    Science.gov (United States)

    Crow, S; Kendall, D; Praus, B; Thuras, P

    2001-09-01

    Type II diabetes mellitus (DM), a common disease with many potential complications, is strongly associated with obesity. Alterations in food consumption can dramatically alter glucose control in individuals with Type II DM. Binge eating disorder (BED) is also closely associated with obesity. The nature of the relationship, if any, between Type II DM and BED is unclear. Forty-three individuals (23 females, 20 males) with Type II DM were assessed using the Structured Clinical Interview for DSM-IV (SCID-I), the Three-Factor Eating Questionnaire (TFEQ), and the Impact of Weight Scale. The most recent hemoglobin A1c level was recorded. Height and weight were also measured. Eleven subjects (25.6%) were diagnosed with BED. Individuals with BED had higher body mass index (BMI) scores, higher TFEQ Disinhibition and Hunger scores, and higher scores on all Impact of Weight subscales (except eating) compared with those without BED. Glycosylated hemoglobin levels did not differ between the two groups (8.1% vs. 8.4%; p = 0.553). Rates of BED in subjects with Type II DM were substantial. Other types of psychopathology were also common. Although glycosylated hemoglobin levels were similar in patients with and without BED, the presence of BED was associated with greater obesity. Assessment for BED is an important aspect of the management of patients with Type II DM. Copyright 2001 by John Wiley & Sons, Inc.

  1. Influence of coffee brew in metabolic syndrome and type 2 diabetes.

    Science.gov (United States)

    Abrahão, Sheila Andrade; Pereira, Rosemary Gualberto Fonseca Alvarenga; de Sousa, Raimundo Vicente; Lima, Adriene Ribeiro; Crema, Gabriela Previatti; Barros, Bianca Sacramento

    2013-06-01

    This study aimed to evaluate the effect of coffee drinking on clinical markers of diabetes and metabolic syndrome in Zucker rats. Diabetic Zucker rats with metabolic syndrome and control Zucker rats were used for in vivo tests. The animals received daily doses of coffee drink by gavage for 30 days. After the treatment, the levels of glucose, triglycerides, total cholesterol and fractions, creatinine, uric acid, activity of aspartate aminotransferase and alanine aminotransferase were evaluated. Urea and creatinine levels were also analyzed in urine. By collaborating in the modulation of the metabolic syndrome and diabetes mellitus type 2, coffee drink helped in reducing serum glucose, total cholesterol and triglycerides. The results demonstrate that treatment with roasted coffee drink, because of its hypoglycemic and hypolipidemic effect, is efficient in the protection of animals with metabolic syndrome and diabetes mellitus type 2.

  2. High-Detectivity Type-II Superlattice Detectors for 6-14 um Infrared Applications Project

    Data.gov (United States)

    National Aeronautics and Space Administration — SVT Associates proposes an novel type II superlattice structure to extend the cutoff wavelength and CBIRD SL photo diode structure with unipolar barriers to suppress...

  3. Plasmonic Enhanced Type-II Superlattice Focal Plane Arrays, Phase I

    Data.gov (United States)

    National Aeronautics and Space Administration — SVT Associates proposes an novel type II superlattice structure to extend the cutoff wavelength and CBIRD SL photo diode structure with unipolar barriers to suppress...

  4. Hydrogenation of Very Long Wavelength Infrared Focal Plane Arrays Based on Type II Superlattices, Phase I

    Data.gov (United States)

    National Aeronautics and Space Administration — We propose to advance the Ga-free InAs/InAsSb type II superlattice (T2SL) materials technology for very long wavelength infrared (VLWIR) focal plane arrays (FPAs) by...

  5. Long-term use of metformin and colorectal cancer risk in type II diabetics

    DEFF Research Database (Denmark)

    Cardel, Majken; Jensen, S. M.; Pottegård, Anton

    2014-01-01

    In vitro and animal studies indicate that metformin prevents colorectal cancer (CRC). Epidemiological studies, however, have been equivocal. We undertook this study to assess whether metformin prevents CRC in individuals with type II diabetes. We performed a nested case-control study restricted...... to Danish citizens with type II diabetes. Data were collected from four Danish nationwide registries. Cases were type II diabetics with a primary CRC between 2000 and 2009, and controls were sampled among subjects with type II diabetes. Longterm exposure to metformin was defined by the redeeming...... of prescriptions for a cumulative dose of 2000 g within 5 years prior to the index date. To control for potential confounders, we used unconditional logistic regression. We generated adjusted odds ratios (OR) for the association between metformin and CRC and performed subanalyses for selected subgroups...

  6. Large Format LW Type-II SLS FPAs for Space Applications, Phase I

    Data.gov (United States)

    National Aeronautics and Space Administration — This Phase I SBIR proposes to develop high performance (low dark current, high quantum efficiency, and low NEdT) infrared epitaxy materials based on Type II Strained...

  7. Study of Statewide Type II Noise Abatement Program for the Texas Department of Transportation

    Science.gov (United States)

    2000-02-01

    This project will provide sufficient information to the Texas Department of Transportation and the Texas Transportation Commission to make an informed decision regarding the development and implementation of a statewide Type II Noise Abatement Progra...

  8. High Quantum Efficiency Type II SLS FPAs for Space-Based Applications Project

    Data.gov (United States)

    National Aeronautics and Space Administration — This Phase I SBIR proposes to develop high quantum efficiency (QE) and low dark current infrared epitaxy materials based on Type II Strained Layer Superlattice (SLS)...

  9. The imaging manifestations of caseous pulmonary tuberculosis with type-II diabetes mellitus

    Directory of Open Access Journals (Sweden)

    Mingyue Wang

    2015-11-01

    Conclusion: Type-II diabetic patients with caseous tuberculosis mainly showed consolidation and atypical lung field lesions on chest radiographs. Becoming familiar with these features will be helpful to imaging diagnosis of DMTB.

  10. Coffee intake and risk of obesity, metabolic syndrome and type 2 diabetes

    DEFF Research Database (Denmark)

    Nordestgaard, Ask Tybjærg; Thomsen, Mette; Nordestgaard, Børge Grønne

    2015-01-01

    BACKGROUND: Coffee is one of the most widely consumed beverages. We tested the hypothesis that genetically high coffee intake is associated with low risk of obesity, metabolic syndrome and type 2 diabetes, and with related components thereof. METHODS: We included 93,179 individuals from two large...... general population cohorts in a Mendelian randomization study. We tested first whether high coffee intake is associated with low risk of obesity, metabolic syndrome and type 2 diabetes, and with related components thereof, in observational analyses; second, whether five genetic variants near the CYP1A1......, CYP1A2 and AHR genes are associated with coffee intake; and third, whether the genetic variants are associated with obesity, metabolic syndrome and type 2 diabetes, and with related components thereof. Finally, we tested the genetic association with type 2 diabetes in a meta-analysis including up...

  11. Dyslipidemias in type II mellitus patients in a teaching hospital of Lahore, Pakistan

    International Nuclear Information System (INIS)

    Naheed, T.; Khan, A.; Masood, G.; Bilal-Bin-Yunus; Chaudhry, M.A.

    2003-01-01

    Subject: One hundred consecutive type II diabetics between the age of 40-70 years. Those who had hyperlipidemia due to other causes e.g. nephrotic syndrome, hypothyroidism and type-I diabetes mellitus were excluded. Results: One hundred patients suffering from type II diabetes were included in the study. Out of these 64% were females and 36% were males. The age range was 41-70 years with mean of 56.1 plus minus 9.38. Out of these 100 patients, duration of diabetes mellitus of less than 10 years was noted in 43% of patients and more than 10 years in 57%. Random blood sugar was 229.34 plus minus 6.23 and fasting blood sugar was 153.5 plus minus 4.45 when it was seen in the total study subjects, random blood sugar 210.51 plus minus 7.68 and fasting blood sugar 143.83 plus minus 5.35 in sub group whose duration of illness was less than 10 years. In sub group whose DM was more than 10 years random blood sugar was 257.91 plus minus 12.81 and fasting blood sugar was 171.21 plus minus 8.14. Serum cholesterol was 226.88 plus minus 18.48 in the patients as one group, in illness of less than 10 years, it was 191.72 plus minus 5.72 and in illness of more than 10 years duration it was 213.11 plus minus 6.70. Serum triglyceride in illness of less than 10 years duration was 191.83 plus minus 8.05 and where it was more than 10 years, it was 210.04 plus minus 8.90. Serum HDL-C was 36.25 plus minus 0.45 in patients illness of less than 10 years and 35.57 plus minus 0.60 in more than 10 years. Serum LDL - C was 127.1 plus minus 3.99 in patients with less than 10 years of diabetes mellitus and 147.5 plus minus 5.20 in patients with more than 10 years of illness. Fifty-eight patients were hypertensive, 43% of the male patients were smokers. Conclusions: Diabetic dyslipidemia in an important cause of morbidity. Duration of diabetes is associated with higher incidence of dyslipidemia. Type II DM is associated with marked increase in the risk of CHD. Dyslipidemia is believed to be a major

  12. Interrupted Aortic Arch Type B in A Patient with Cat Eye Syndrome

    OpenAIRE

    Belangero, Sintia Iole Nogueira; Bellucco, Fernanda Teixeira da Silva; Cernach, Mirlene C. S. P.; Hacker, April M.; Emanuel, Beverly S.; Melaragno, Maria Isabel

    2009-01-01

    We report a patient with cat eye syndrome and interrupted aortic arch type B, a typical finding in the 22q11.2 deletion syndrome. Chromosomal analysis and fluorescent in situ hybridization (FISH) showed a supernumerary bisatellited isodicentric marker chromosome derived from chromosome 22. The segment from 22pter to 22q11.2 in the supernumerary chromosome found in our patient does not overlap with the region deleted in patients with the 22q11.2 deletion syndrome. However, the finding of an in...

  13. The Nickel Mass Distribution of Normal Type II Supernovae

    Science.gov (United States)

    Müller, Tomás; Prieto, José L.; Pejcha, Ondřej; Clocchiatti, Alejandro

    2017-06-01

    Core-collapse supernova (SN) explosions expose the structure and environment of massive stars at the moment of their death. We use the global fitting technique of Pejcha & Prieto to estimate a set of physical parameters of 19 normal SNe II, such as their distance moduli, reddenings, 56Ni masses {M}{Ni}, and explosion energies {E}\\exp from multicolor light curves and photospheric velocity curves. We confirm and characterize known correlations between {M}{Ni} and bolometric luminosity at 50 days after the explosion, and between {M}{Ni} and {E}\\exp . We pay special attention to the observed distribution of {M}{Ni} coming from a joint sample of 38 SNe II, which can be described as a skewed-Gaussian-like distribution between 0.005 {M}⊙ and 0.280 {M}⊙ , with a median of 0.031 {M}⊙ , mean of 0.046 {M}⊙ , standard deviation of 0.048 {M}⊙ , and skewness of 3.050. We use a two-sample Kolmogorov-Smirnov test and two-sample Anderson-Darling test to compare the observed distribution of {M}{Ni} to results from theoretical hydrodynamical codes of core-collapse explosions with the neutrino mechanism presented in the literature. Our results show that the theoretical distributions obtained from the codes tested in this work, KEPLER and Prometheus Hot Bubble, are compatible with the observations irrespective of different pre-SN calibrations and different maximum mass of the progenitors.

  14. Waardenburg syndrome type I with heterochromia iridis and circumscribed hypopigmentation of the skin.

    Science.gov (United States)

    Eigelshoven, Sibylle; Kameda, Gitta; Kortüm, Anne-Katrin; Hübsch, Simone; Angerstein, Wolfgang; Singh, Preeti; Vöhringer, Renate; Goecke, Timm; Mayatepek, Ertan; Ruzicka, Thomas; Wildhardt, Gabriele; Meissner, Thomas; Kruse, Roland

    2009-01-01

    We report a 3-year-old girl with autosomal dominant inherited Waardenburg syndrome type I showing circumscribed hypopigmentation of the skin, heterochromia iridis, sensorineural deafness, and dental aberrations. Clinical diagnosis was confirmed by the identification of an underlying missense mutation (C811T) in the PAX3 gene. Early diagnosis of Waardenburg syndrome among children with pigment anomalies enables a successful interdisciplinary medical care.

  15. Design and Fabrication of High-Performance LWIR Photodetectors Based on Type-II Superlattices

    Science.gov (United States)

    2017-08-11

    and strain-balanced InAs1-xSbx/InAs Type- II superlattices for LWIR detection and imaging . After this study, it is expected to achieve a superlattice...persistent surveillance applications. Improvement in material quality and processing technique, as well as evolutionary modifications in device... imaging . 15. SUBJECT TERMS Focal plane array, improved minority carrier lifetime, type II superlattice and infrared 16. SECURITY CLASSIFICATION OF: 17

  16. Throughput of Type II HARQ-OFDM/TDM Using MMSE-FDE in a Multipath Channel

    Directory of Open Access Journals (Sweden)

    Haris Gacanin

    2009-01-01

    Full Text Available In type II hybrid ARQ (HARQ schemes, the uncoded information bits are transmitted first, while the error correction parity bits are sent upon request. Consequently, frequency diversity cannot be exploited during the first transmission. In this paper, we present the use of OFDM/TDM with MMSE-FDE and type II HARQ to increase throughput of OFDM due to frequency diversity gain.

  17. Carbon black nanoparticles induce type II epithelial cells to release chemotaxins for alveolar macrophages

    Directory of Open Access Journals (Sweden)

    Donaldson Ken

    2005-12-01

    Full Text Available Abstract Background Alveolar macrophages are a key cell in dealing with particles deposited in the lungs and in determining the subsequent response to that particle exposure. Nanoparticles are considered a potential threat to the lungs and the mechanism of pulmonary response to nanoparticles is currently under intense scrutiny. The type II alveolar epithelial cell has previously been shown to release chemoattractants which can recruit alveolar macrophages to sites of particle deposition. The aim of this study was to assess the responses of a type II epithelial cell line (L-2 to both fine and nanoparticle exposure in terms of secretion of chemotactic substances capable of inducing macrophage migration. Results Exposure of type II cells to carbon black nanoparticles resulted in significant release of macrophage chemoattractant compared to the negative control and to other dusts tested (fine carbon black and TiO2 and nanoparticle TiO2 as measured by macrophage migration towards type II cell conditioned medium. SDS-PAGE analysis of the conditioned medium from particle treated type II cells revealed that a higher number of protein bands were present in the conditioned medium obtained from type II cells treated with nanoparticle carbon black compared to other dusts tested. Size-fractionation of the chemotaxin-rich supernatant determined that the chemoattractants released from the epithelial cells were between 5 and 30 kDa in size. Conclusion The highly toxic nature and reactive surface chemistry of the carbon black nanoparticles has very likely induced the type II cell line to release pro-inflammatory mediators that can potentially induce migration of macrophages. This could aid in the rapid recruitment of inflammatory cells to sites of particle deposition and the subsequent removal of the particles by phagocytic cells such as macrophages and neutrophils. Future studies in this area could focus on the exact identity of the substance(s released by the

  18. Type-II Quantum Dot Nanowire Structures with Large Oscillator Strengths for Optical Quantum Gating Applications

    DEFF Research Database (Denmark)

    Taherkhani, Masoomeh; Gregersen, Niels; Willatzen, Morten

    2017-01-01

    The exciton oscillator strength (OS) in type-II quantum dot (QD) nanowires is calculated by using a fast and efficient method. We propose a new structure in Double-Well QD (DWQD) nanowire that considerably increases OS of type-II QDs which is a key parameter in optical quantum gating in the stimu...... in the stimulated Raman adiabatic passage (STIRAP) process [1] for implementing quantum gates....

  19. Functional analysis of a SOX10 gene mutation associated with Waardenburg syndrome II.

    Science.gov (United States)

    Wang, Xue-Ping; Hao, Zi-Qi; Liu, Ya-Lan; Mei, Ling-Yun; He, Chu-Feng; Niu, Zhi-Jie; Sun, Jie; Zhao, Yu-Lin; Feng, Yong

    2017-11-04

    Waardenburg syndrome (WS) is an autosomal dominant inherited non-syndromic type of hereditary hearing loss characterized by varying combinations of sensorineural hearing loss and abnormal pigmentation of the hair, skin, and inner ear. WS is classified into four subtypes (WS1-WS4) based on additional symptoms. WS2 is characterized by the absence of additional symptoms. Recently, we identified a SOX10 missense mutation c.422T > C (p.L141P) associated with WS2. We performed functional assays and found the mutant loses DNA-binding capacity, shows aberrant cytoplasmic and nuclear localization, and fails to interact with PAX3. Therefore, the mutant cannot transactivate the MITF promoter effectively, inhibiting melanin synthesis and leading to WS2. Our study confirmed haploinsufficiency as the underlying pathogenesis for WS2. Copyright © 2017 Elsevier Inc. All rights reserved.

  20. Discovery and development of the N-terminal procollagen type II (NPII) biomarker: a tool for measuring collagen type II synthesis.

    Science.gov (United States)

    Nemirovskiy, O V; Sunyer, T; Aggarwal, P; Abrams, M; Hellio Le Graverand, M P; Mathews, W R

    2008-12-01

    Progression of joint damage in osteoarthritis (OA) is likely to result from an imbalance between cartilage degradation and synthesis processes. Markers reflecting these two components appear to be promising in predicting the rate of OA progression. Both N- and C-terminal propeptides of type II collagen reflect the rates of collagen type II synthesis. The ability to quantify the procollagen peptides in biological fluids would enable a better understanding of OA disease pathology and provide means for assessing the proof of mechanism of anabolic disease modifying OA drugs (DMOADs). A polyclonal antibody that recognizes the sequence GPKGQKGEPGDIKDI in the propeptide region of rat, dog, and human type II collagen was raised in chicken and peptide-affinity purified. The immunoaffinity liquid chromatography mass spectrometry (LC-MS/MS) was used to extensively characterize N-terminal procollagen type II (NPII) peptides found in biological fluids. The novel competition enzyme-linked immunosorbent assay (ELISA) assay was developed to quantitatively measure the NPII peptides. Several peptides ranging from 17 to 41 amino acids with various modifications including hydroxylations on proline and lysine residues, oxidation of lysines to allysines, and attachments of glucose and galactose moieties to hydroxylysines were identified in a simple system such as ex vivo cultures of human articular cartilage (HAC) explants as well as in more complex biological fluids such as human urine and plasma. A competitive ELISA assay has been developed and applied to urine, plasma, and synovial fluid matrices in human, rat and dog samples. A novel NPII assay has been developed and applied to OA and normal human subjects to understand the changes in collagen type II synthesis related to the pathology of OA.

  1. Complex regional pain syndrome type 1 predictors - Epidemiological perspective from a national database analysis.

    Science.gov (United States)

    Elsharydah, Ahmad; Loo, Nathaniel H; Minhajuddin, Abu; Kandil, Enas S

    2017-06-01

    Complex regional pain syndrome type 1 is a disabling pain disorder with unclear etiology. It is usually triggered by an injury to a limb with or without specific nerve injury. The objective of this study is to explore the risk factors and predictors for this disease utilizing a large national database. Retrospective analysis of the Nationwide Inpatient Sample database from 2007 to 2011 in the United States. Adult inpatients diagnosed with complex regional pain syndrome type 1. Chi-square, simple and multivariate logistic regression analyses were conducted. The regression model was adjusted to the patient's demographics and comorbidities. There were 22,533 patients with the discharge diagnosis of complex regional pain syndrome type 1 of an inpatient sample of 33,406,123. It peaks between age 45 and 55. Female gender, Caucasian race, higher median household income, headache, depression, drug abuse and private insurance patients (vs Medicaid patients) were associated with higher rate of complex regional pain syndrome type 1. On the other hand, diabetes, obesity, hypothyroidism, and anemia were associated with a lower rate. Utilizing a large database, our study added more information to the risk profile of the complex regional pain syndrome type 1 in an inpatient population. Such information should be useful for physician for early recognition, diagnosis of patients at risk. Copyright © 2017 Elsevier Inc. All rights reserved.

  2. Risk of development of chronic kidney disease in patients with type 2 diabetes having metabolic syndrome.

    Science.gov (United States)

    Moin, Shaheen; Gondal, Ghulam Murtaza; Bano, Uzma

    2008-08-01

    To measure the relation of creatinine clearance in type-2 diabetic patients with different components of metabolic syndrome and to quantify the relationship of frequency of incident CKD with increasing number of metabolic syndrome components while controlling for age, gender and duration of diabetes. Cross-sectional descriptive study. Diabetes Clinic, Fauji Foundation Hospital, Rawalpindi, from January to August 2006. Patients having type-2 Diabetes for more than 5 years were enrolled. Information regarding age, gender, duration of diabetes , type of diabetes, treatment taking, complete fasting lipid profile, fasting blood glucose, Body Mass Index (BMI), 24 hours urinary proteins and creatinine clearance, co-existent risk factors like hypertension and ischemic heart disease was taken. Patients were divided into groups having one to all five metabolic syndrome traits. Progressive increase in the metabolic syndrome traits was compared with decline in creatinine clearance. Pearson correlation test and multiple logistic regression were applied to determine correlation with significance at 'r' and 'p' creatinine clearance, 37% had a creatinine clearance between 60-90 ml/min, 19% had a creatinine clearance of 30-59 ml/min, 18% had a creatinine clearance of less than 30 ml/min and 10% were already in stage 5 CKD. The decline in renal function was more severe in subjects evaluated who had a higher number of features of the metabolic syndrome. Age was the only significant determinant of development of CKD (p=0.05). The renal function progressively declined with 3 or more features of the metabolic syndrome.

  3. Structural and biochemical characterization of the type-II LOG protein from Streptomyces coelicolor A3.

    Science.gov (United States)

    Seo, Hogyun; Kim, Kyung-Jin

    2018-03-29

    Streptomyces coelicolor A3 contains Sc5140, a gene coding for poorly understood bacterial LOG-like protein. In this study, we determined the crystal structure of Sc5140 and found it resembles the overall structure of other type-II LOGs. In addition, Sc5140 exhibited phosphoribohydrolase activity against adenosine monophosphate (AMP), indicating that it had the same function as known type-II LOGs. Based on these results, we designated Sc5140 as ScLOGII. We performed docking calculations of AMP into the ScLOGII structure, which suggested the mode of binding for type-II LOG with their AMP substrate. The ScLOGII structure uniquely exhibited a long tail-like structure at the N-terminus that was involved in hexamerization of the protein; the disordered N-terminal region (DNR). Truncation of DNR in ScLOGII negatively affected both the phosphoribohydrolase activity and the oligomerization of the protein, suggesting that this region functioned in enzyme stabilization. However, results from truncation experiments using ScLOGII and CgLOGII, a type-II LOG homologue from Corynebacterium glutamicum, were quite different, leaving uncertainty regarding the general functions of DNR in type-II LOGs. Overall, the current structural work may help in understand the significance of type-II LOG protein at the molecular level. Copyright © 2018 Elsevier Inc. All rights reserved.

  4. Alveolar type II cell transplantation restores pulmonary surfactant protein levels in lung fibrosis.

    Science.gov (United States)

    Guillamat-Prats, Raquel; Gay-Jordi, Gemma; Xaubet, Antoni; Peinado, Victor I; Serrano-Mollar, Anna

    2014-07-01

    Alveolar Type II cell transplantation has been proposed as a cell therapy for the treatment of idiopathic pulmonary fibrosis. Its long-term benefits include repair of lung fibrosis, but its success partly depends on the restoration of lung homeostasis. Our aim was to evaluate surfactant protein restoration after alveolar Type II cell transplantation in an experimental model of bleomycin-induced lung fibrosis in rats. Lung fibrosis was induced by intratracheal instillation of bleomycin. Alveolar Type II cells were obtained from healthy animals and transplanted 14 days after bleomycin was administered. Furthermore, one group transplanted with alveolar macrophages and another group treated with surfactant were established to evaluate the specificity of the alveolar Type II cell transplantation. The animals were euthanized at 21 days after bleomycin instillation. Lung fibrosis was confirmed by a histologic study and an evaluation of the hydroxyproline content. Changes in surfactant proteins were evaluated by mRNA expression, Western blot and immunofluorescence studies. The group with alveolar Type II cell transplantation was the only one to show a reduction in the degree of lung fibrosis and a complete recovery to normal levels of surfactant proteins. One of the mechanisms involved in the beneficial effect of alveolar Type II cell transplantation is restoration of lung surfactant protein levels, which is required for proper respiratory function. Copyright © 2014 International Society for Heart and Lung Transplantation. Published by Elsevier Inc. All rights reserved.

  5. Creation of a type IIS restriction endonuclease with a long recognition sequence.

    Science.gov (United States)

    Lippow, Shaun M; Aha, Patti M; Parker, Matthew H; Blake, William J; Baynes, Brian M; Lipovsek, Dasa

    2009-05-01

    Type IIS restriction endonucleases cleave DNA outside their recognition sequences, and are therefore particularly useful in the assembly of DNA from smaller fragments. A limitation of type IIS restriction endonucleases in assembly of long DNA sequences is the relative abundance of their target sites. To facilitate ligation-based assembly of extremely long pieces of DNA, we have engineered a new type IIS restriction endonuclease that combines the specificity of the homing endonuclease I-SceI with the type IIS cleavage pattern of FokI. We linked a non-cleaving mutant of I-SceI, which conveys to the chimeric enzyme its specificity for an 18-bp DNA sequence, to the catalytic domain of FokI, which cuts DNA at a defined site outside the target site. Whereas previously described chimeric endonucleases do not produce type IIS-like precise DNA overhangs suitable for ligation, our chimeric endonuclease cleaves double-stranded DNA exactly 2 and 6 nt from the target site to generate homogeneous, 5', four-base overhangs, which can be ligated with 90% fidelity. We anticipate that these enzymes will be particularly useful in manipulation of DNA fragments larger than a thousand bases, which are very likely to contain target sites for all natural type IIS restriction endonucleases.

  6. Cardiovascular risk markers in type II diabetes and hypertension at ...

    African Journals Online (AJOL)

    Background:Inflammation has been suugested to be associated with hypertension and type 2 diabetes; inflammation either precedes or is a consequence of the development of these diseases. This study sought to evaluate the role of inflammatory markers as cardiovascular risk factors and also determine their association ...

  7. Numerical simulation for i - ii type of distribution header throttle

    International Nuclear Information System (INIS)

    Yuheng, Feng; Wenjun, Hu; Xuedong, Qiao; Zhifeng, Hou

    2009-01-01

    In the simulation of distribution header throttle structure, using the computational fluid dynamic code-CFX, compared with experiment, the reasons of error is discussed and the reliability of this simulation is proved. Authors have checked same types of calculations, particularly introduced the relationship between CFD and experiment. The results will be theoretic base and reference

  8. Relationship between Fatigue and Gait Abnormality in Joint Hypermobility Syndrome/Ehlers-Danlos Syndrome Hypermobility Type

    Science.gov (United States)

    Celletti, Claudia; Galli, Manuela; Cimolin, Veronica; Castori, Marco; Albertini, Giorgio; Camerota, Filippo

    2012-01-01

    Ehlers-Danlos syndrome (EDS) is a clinically and genetically heterogeneous group of inherited connective tissue disorders characterised by joint hypermobility, skin hyperextensibility and tissue fragility. It has recently been shown that muscle weakness occurs frequently in EDS, and that fatigue is a common and clinically important symptom. The…

  9. NO EVIDENCE FOR A SYSTEMATIC Fe II EMISSION LINE REDSHIFT IN TYPE 1 ACTIVE GALACTIC NUCLEI

    International Nuclear Information System (INIS)

    Sulentic, Jack W.; Marziani, Paola; Zamfir, Sebastian; Meadows, Zachary A.

    2012-01-01

    We test the recent claim by Hu et al. that Fe II emission in type 1 active galactic nuclei shows a systematic redshift relative to the local source rest frame and broad-line Hβ. We compile high signal-to-noise median composites using Sloan Digital Sky Survey spectra from both the Hu et al. sample and our own sample of the 469 brightest DR5 spectra. Our composites are generated in bins of FWHM Hβ and Fe II strength as defined in our 4D Eigenvector 1 formalism. We find no evidence for a systematic Fe II redshift and consistency with previous assumptions that Fe II shift and width (FWHM) follow Hβ shift and FWHM in virtually all sources. This result is consistent with the hypothesis that Fe II emission (quasi-ubiquitous in type 1 sources) arises from a broad-line region with geometry and kinematics the same as that producing the Balmer lines.

  10. Chronic fatigue in Ehlers-Danlos syndrome-Hypermobile type.

    Science.gov (United States)

    Hakim, Alan; De Wandele, Inge; O'Callaghan, Chris; Pocinki, Alan; Rowe, Peter

    2017-03-01

    Chronic fatigue is an important contributor to impaired health-related quality of life in Ehlers-Danlos syndrome. There is overlap in the symptoms and findings of EDS and chronic fatigue syndrome. A proportion of those with CFS likely have EDS that has not been identified. The evaluation of chronic fatigue in EDS needs to include a careful clinical examination and laboratory testing to exclude common causes of fatigue including anemia, hypothyroidisim, and chronic infection, as well as dysfunction of major physiological or organ systems. Other problems that commonly contribute to fatigue in EDS include sleep disorders, chronic pain, deconditioning, cardiovascular autonomic dysfunction, bowel and bladder dysfunction, psychological issues, and nutritional deficiencies. While there is no specific pharmacological treatment for fatigue, many medications are effective for specific symptoms (such as headache, menstrual dysfunction, or myalgia) and for co-morbid conditions that result in fatigue, including orthostatic intolerance and insomnia. Comprehensive treatment of fatigue needs to also evaluate for biomechanical problems that are common in EDS, and usually involves skilled physical therapy and attention to methods to prevent deconditioning. In addition to managing specific symptoms, treatment of fatigue in EDS also needs to focus on maintaining function and providing social, physical, and nutritional support, as well as providing on-going medical evaluation of new problems and review of new evidence about proposed treatments. © 2017 Wiley Periodicals, Inc. © 2017 Wiley Periodicals, Inc.

  11. Ca II H and K emission from late-type stars

    International Nuclear Information System (INIS)

    Middlekoop, F.

    1982-01-01

    This thesis is based on a study of the Ca II H and K emission features of late main-sequence stars. In Chapter II it is shown that rotation periods can be determined from a modulation in the Ca II H and K signal for many stars in a broad range of spectral types. In Chapter III it is shown that a clear correlation exists between Ca II H and K emission and rotational velocity in active main-sequence stars. There is an indication for a (probably colour-dependent) critical velocity at which the Ca II H and K emission suddenly drops. Chapter IV discusses the dependence of Ca II H and K emission on the rotation rate for evolved stars. (Auth./C.F.)

  12. Clinical characteristics of abnormal savda syndrome type in human immunodeficiency virus infection and acquired immune deficiency syndrome patients: A cross-sectional investigation in Xinjiang, China.

    Science.gov (United States)

    Peierdun, Mi-ji-ti; Liu, Wen-xian; Renaguli, Ai-ze-zi; Nurmuhammat, Amat; Li, Xiao-chun; Gulibaier, Ka-ha-er; Ainivaer, Wu-la-mu; Halmurat, Upur

    2015-12-01

    To investigate the distribution of abnormal hilit syndromes in traditional Uighur medicine (TUM) among human immunodeficiency virus infection and acquired immune deficiency syndrome (HIV/AIDS) patients, and to find out the clinical characteristics of abnormal savda syndrome type HIV/AIDS patients. Between June and July in 2012, 307 eligible HIV/AIDS patients from in-patient department and out-patient clinics of Xinjiang Uighur Autonomous Region the Sixth People's Hospital in Urumqi were investigated. TUM syndrome differentiation was performed by a senior TUM physician. Each participant completed a Sign and Symptom Check-List for Persons Living with HIV/AIDS (SSC-HIV) questionnaire. Depression was evaluated by using Hamilton Rating Scale for Depression Questionnaire. Blood specimen was collected from each participant to test the levels of blood chemicals. Of 307 HIV/AIDS patients, 189 (61.6%) were abnormal savda syndrome type, 118 (38.4%) were non-abnormal-savda syndrome type. Mean CD4 counts of abnormal savda syndrome type patients was (227.61±192.93) cells/µL, and the prevalence of anemia, thrombocytopenia, and elevated cystatin C were 49.7%, 28.6%, and 44.7%, which were significantly higher than those in the non-abnormal-savda syndrome type patients (26.3%, 16.0% and 25.0%,Psyndrome patients (Psyndrome is the dominant syndrome among HIV/AIDS patients, and they present a more sever clinical manifestation.

  13. Supersymmetric RG flows and Janus from type II orbifold compactification

    Energy Technology Data Exchange (ETDEWEB)

    Karndumri, Parinya; Upathambhakul, Khem [Chulalongkorn University, String Theory and Supergravity Group, Department of Physics, Faculty of Science, Bangkok (Thailand)

    2017-07-15

    We study holographic RG flow solutions within four-dimensional N = 4 gauged supergravity obtained from type IIA and IIB string theories compactified on T{sup 6}/Z{sub 2} x Z{sub 2} orbifold with gauge, geometric and non-geometric fluxes. In type IIB non-geometric compactifications, the resulting gauged supergravity has ISO(3) x ISO(3) gauge group and admits an N = 4 AdS{sub 4} vacuum dual to an N = 4 superconformal field theory (SCFT) in three dimensions. We study various supersymmetric RG flows from this N = 4 SCFT to N = 4 and N = 1 non-conformal field theories in the IR. The flows preserving N = 4 supersymmetry are driven by relevant operators of dimensions Δ = 1, 2 or alternatively by one of these relevant operators, dual to the dilaton, and irrelevant operators of dimensions Δ = 4 while the N = 1 flows in addition involve marginal deformations. Most of the flows can be obtained analytically. We also give examples of supersymmetric Janus solutions preserving N = 4 and N = 1 supersymmetries. These solutions should describe two-dimensional conformal defects within the dual N = 4 SCFT. Geometric compactifications of type IIA theory give rise to N = 4 gauged supergravity with ISO(3) x U(1){sup 6} gauge group. In this case, the resulting gauged supergravity admits an N = 1 AdS{sub 4} vacuum. We also numerically study possible N = 1 RG flows to non-conformal field theories in this case. (orig.)

  14. Dietary Patterns and Metabolic Syndrome among Type 2 Diabetes Patients in Gaza Strip, Palestine.

    Science.gov (United States)

    El Bilbeisi, Abdel Hamid; Hosseini, Saeed; Djafarian, Kurosh

    2017-05-01

    The prevalence of metabolic syndrome is raising worldwide; however, the role of diet in the origin of metabolic syndrome is not understood well. This study identifies major dietary patterns among type 2 diabetes mellitus patients with and without metabolic syndrome; and its association with metabolic syndrome components in Gaza Strip, Palestine. This cross sectional study was conducted among 1200 previously diagnosed type 2 diabetes mellitus (both genders, aged 20 - 64 years) patients receiving care in primary healthcare centers in Gaza Strip, Palestine. Metabolic syndrome was defined based on the International Diabetes Federation criteria; dietary patterns were evaluated using a validated semi-quantitative food frequency questionnaire. Statistical analysis was performed using SPSS version 20. Two major dietary patterns were identified by factor analysis: Asian-like pattern and sweet-soft drinks-snacks pattern. After adjustment for confounding variables, patients in the highest tertile of the Asian-like pattern characterized by a high intake of whole grains, potatoes, beans, legumes, vegetables, tomatoes and fruithad a lower odds for (Metabolic syndrome, central obesity, high triglycerides, low HDL cholesterol and high blood pressure), (OR 0.766 CI 95% (.642-.914)), (OR 0.797 CI 95% (.652-.974)), (OR 0.791 CI 95% (.687-.911)), (OR 0.853 CI 95% (.743-.978)) and (OR 0.815 CI 95% (.682-.973)) respectively, (P value metabolic syndrome and its components. The Asian-like pattern may be associated with a lower prevalence of metabolic syndrome and its components among type 2 diabetes patients.

  15. The Functions of Type I and Type II Natural Killer T (NKT) Cells in Inflammatory Bowel Diseases

    Science.gov (United States)

    Liao, Chia-Min; Zimmer, Michael I.; Wang, Chyung-Ru

    2013-01-01

    CD1d-restricted natural killer T (NKT) cells are a distinct subset of T cells that rapidly produce an array of cytokines upon activation and play a critical role in regulating various immune responses. NKT cells are classified into two groups based on differences in T cell receptor (TCR) usage. Type I NKT cells have an invariant TCRα-chain and are readily detectable by α-galactosylceramide (α-GalCer)-loaded CD1d tetramers. Type II NKT cells have a more diverse TCR repertoire and cannot be directly identified. Both types of NKT cells as well as multiple CD1d-expressing cell types are present in the intestine and their interactions are likely to be modulated by pathogenic and commensal microbes, which in turn contribute to the intestinal immune responses in health and disease. Indeed, in several animal models of inflammatory bowel disease (IBD), Type I NKT cells have been shown to make both protective and pathogenic contributions to disease. In contrast, in human patients suffering from ulcerative colitis (UC), and a mouse model in which both CD1d expression and the frequency of Type II NKT cells are increased, Type II NKT cells appear to promote intestinal inflammation. In this review, we summarize present knowledge on the antigen recognition, activation and function of NKT cells with a particular focus on their role in IBD, and discuss factors that may influence the functional outcome of NKT cell responses in intestinal inflammation. PMID:23518808

  16. Natural transformation of an engineered Helicobacter pylori strain deficient in type II restriction endonucleases.

    Science.gov (United States)

    Zhang, Xue-Song; Blaser, Martin J

    2012-07-01

    Restriction-modification (RM) systems are important for bacteria to limit foreign DNA invasion. The naturally competent bacterium Helicobacter pylori has highly diverse strain-specific type II systems. To evaluate the roles of strain-specific restriction in H. pylori natural transformation, a markerless type II restriction endonuclease-deficient (REd) mutant was constructed. We deleted the genes encoding all four active type II restriction endonucleases in H. pylori strain 26695 using sacB-mediated counterselection. Transformation by donor DNA with exogenous cassettes methylated by Escherichia coli was substantially (1.7 and 2.0 log(10) for cat and aphA, respectively) increased in the REd strain. There also was significantly increased transformation of the REd strain by donor DNA from other H. pylori strains, to an extent corresponding to their shared type II R-M system strain specificity with 26695. Comparison of the REd and wild-type strains indicates that restriction did not affect the length of DNA fragment integration during natural transformation. There also were no differentials in cell growth or susceptibility to DNA damage. In total, the data indicate that the type II REd mutant has enhanced competence with no loss of growth or repair facility compared to the wild type, facilitating H. pylori mutant construction and other genetic engineering.

  17. Type II NKT Cells in Inflammation, Autoimmunity, Microbial Immunity, and Cancer.

    Science.gov (United States)

    Marrero, Idania; Ware, Randle; Kumar, Vipin

    2015-01-01

    Natural killer T cells (NKT) recognize self and microbial lipid antigens presented by non-polymorphic CD1d molecules. Two major NKT cell subsets, type I and II, express different types of antigen receptors (TCR) with distinct mode of CD1d/lipid recognition. Though type II NKT cells are less frequent in mice and difficult to study, they are predominant in human. One of the major subsets of type II NKT cells reactive to the self-glycolipid sulfatide is the best characterized and has been shown to induce a dominant immune regulatory mechanism that controls inflammation in autoimmunity and in anti-cancer immunity. Recently, type II NKT cells reactive to other self-glycolipids and phospholipids have been identified suggesting both promiscuous and specific TCR recognition in microbial immunity as well. Since the CD1d pathway is highly conserved, a detailed understanding of the biology and function of type II NKT cells as well as their interplay with type I NKT cells or other innate and adaptive T cells will have major implications for potential novel interventions in inflammatory and autoimmune diseases, microbial immunity, and cancer.

  18. Canagliflozin improves risk factors of metabolic syndrome in patients with type 2 diabetes mellitus and metabolic syndrome

    Directory of Open Access Journals (Sweden)

    Davies MJ

    2017-01-01

    Full Text Available Michael J Davies,1 Katherine W Merton,1 Ujjwala Vijapurkar,2 Dainius A Balis,2 Mehul Desai2 1Janssen Scientific Affairs, LLC, Titusville, NJ, USA; 2Janssen Research & Development, LLC, Raritan, NJ, USA Objective: Metabolic syndrome refers to a collection of risk factors associated with the development of cardiovascular disease and type 2 diabetes mellitus (T2DM. Canagliflozin, a sodium glucose co-transporter 2 inhibitor, improves glycemic control and reduces body weight and blood pressure (BP in a broad range of patients with T2DM. This post hoc analysis assessed the effects of canagliflozin on the components of metabolic syndrome in patients with T2DM and metabolic syndrome.Methods: This analysis was based on data from 2 head-to-head studies of canagliflozin in patients with T2DM on background metformin versus glimepiride (study 1 and background metformin plus sulfonylurea versus sitagliptin 100 mg (study 2. Changes from baseline in glycemic efficacy, anthropometric measures, BP, and lipids were evaluated with canagliflozin versus glimepiride and sitagliptin at week 52 in patients who met ≥2 of the criteria for metabolic syndrome (in addition to T2DM: triglycerides ≥1.7 mmol/L; high-density lipoprotein cholesterol (HDL-C <1.0 mmol/L (men or <1.3 mmol/L (women; waist circumference ≥102 cm (non-Asian men, ≥88 cm (non-Asian women, >90 cm (Asian men, or >80 cm (Asian women; diagnosis of hypertension or meeting BP-related criteria (systolic BP ≥130 mmHg or diastolic BP ≥85 mmHg. Safety was assessed based on adverse event reports.Results: In study 1, canagliflozin 100 and 300 mg provided similar and greater HbA1c reductions versus glimepiride, respectively. In study 2, canagliflozin 300 mg provided greater HbA1c lowering versus sitagliptin 100 mg. Canagliflozin also reduced fasting plasma glucose, body weight, body mass index, waist circumference, BP, and triglycerides, and increased HDL-C and low-density lipoprotein cholesterol versus

  19. Immunogenetics of rheumatoid arthritis and primary Sjögren's syndrome: DNA polymorphism of HLA class II genes

    DEFF Research Database (Denmark)

    Morling, Niels; Andersen, V; Fugger, L

    1992-01-01

    We investigated the DNA restriction fragment length polymorphism (RFLP) of the Major Histocompatability Complex (MHC) class II genes: HLA-DRB, -DQA, -DQB, DPA, and -DFB in 24 patients with rheumatoid arthritis (RA), in 19 patients with primary Sjögren's syndrome (primary SS), and healthy Danes. T...

  20. ACh-induced hyperpolarization and decreased resistance in mammalian type II vestibular hair cells.

    Science.gov (United States)

    Poppi, Lauren A; Tabatabaee, Hessam; Drury, Hannah R; Jobling, Phillip; Callister, Robert J; Migliaccio, Americo A; Jordan, Paivi M; Holt, Joseph C; Rabbitt, Richard D; Lim, Rebecca; Brichta, Alan M

    2018-01-01

    In the mammalian vestibular periphery, electrical activation of the efferent vestibular system (EVS) has two effects on afferent activity: 1) it increases background afferent discharge and 2) decreases afferent sensitivity to rotational stimuli. Although the cellular mechanisms underlying these two contrasting afferent responses remain obscure, we postulated that the reduction in afferent sensitivity was attributed, in part, to the activation of α9- containing nicotinic acetylcholine (ACh) receptors (α9*nAChRs) and small-conductance potassium channels (SK) in vestibular type II hair cells, as demonstrated in the peripheral vestibular system of other vertebrates. To test this hypothesis, we examined the effects of the predominant EVS neurotransmitter ACh on vestibular type II hair cells from wild-type (wt) and α9-subunit nAChR knockout (α9 -/- ) mice. Immunostaining for choline acetyltransferase revealed there were no obvious gross morphological differences in the peripheral EVS innervation among any of these strains. ACh application onto wt type II hair cells, at resting potentials, produced a fast inward current followed by a slower outward current, resulting in membrane hyperpolarization and decreased membrane resistance. Hyperpolarization and decreased resistance were due to gating of SK channels. Consistent with activation of α9*nAChRs and SK channels, these ACh-sensitive currents were antagonized by the α9*nAChR blocker strychnine and SK blockers apamin and tamapin. Type II hair cells from α9 -/- mice, however, failed to respond to ACh at all. These results confirm the critical importance of α9nAChRs in efferent modulation of mammalian type II vestibular hair cells. Application of exogenous ACh reduces electrical impedance, thereby decreasing type II hair cell sensitivity. NEW & NOTEWORTHY Expression of α9 nicotinic subunit was crucial for fast cholinergic modulation of mammalian vestibular type II hair cells. These findings show a multifaceted

  1. Type-II second-harmonic-generation properties of YCOB and GdCOB single crystals.

    Science.gov (United States)

    Liu, Yanqing; Qi, Hongwei; Lu, Qingming; Yu, Fapeng; Wang, Zhengping; Xu, Xinguang; Zhao, Xian

    2015-02-09

    As excellent nonlinear optical (NLO) crystals, YCa(4)O(BO(3))(3) (YCOB) and GdCa(4)O(BO(3))(3) (GdCOB) have been paid much attention since their first appearance in 1990's. From that time to now, almost all of related researches and applications have focused on their type-I phase-matching (PM) configurations which possess large effective NLO coefficient (d(eff)). In this paper, type-II second-harmonic-generation (SHG) properties of these two crystals are reported, including PM curve, d(eff), angular acceptance and walk-off angle. Both of the type-II SHG experiments for 1064 and 1320 nm have indicated that the optimum directions which have maximum d(eff) locate in the second octant, i.e. (90° crystal, the largest type-II SHG conversion efficiency of a 1064 nm Nd:YAG pico-second laser is 55%, which reaches the same level of the optimum type-I sample. To our knowledge this is the first time that type-II SHG performance of YCOB and GdCOB crystals is investigated intensively. Our research has shown that the smaller d(eff) of type-II PM can be compensated by its larger angular acceptance and less beam walk-off. The same level SHG conversion efficiency implies for such type crystals the type-II components have the potential to replace type-I ones and obtain important NLO applications in the future.

  2. Prevalence of human T-lymphotropic virus type I and type II antibody among blood donors in Eastern Saudi Arabia.

    Science.gov (United States)

    Ul-Hassan, Zahoor; Al-Bahrani, Ahmad T; Panhotra, Bodh R

    2004-10-01

    Human T-cell leukemia/lymphoma virus type I and type II (HTLV-I/II) infections can be transfusion associated, leading to tropical paraparesis, myelopathy and other neurological disorders. The aim of this study is to circumvent the risk of transmission through blood transfusion and to describe the prevalence of HTLV-I/II antibody among blood donors of Al-Hasa region and the cost effectiveness of screening blood donors. The study was conducted at the Department of Laboratory and Blood Bank, King Fahad Hospital, Al-Hofuf, Al-Hasa, Kingdom of Saudi Arabia during the period of 1997 to 2003. A total of 47426 blood donors were screened for HTLV-I/II antibody by enzyme-linked immunosorbent assay test, during the 7 years of study period. The positive samples were confirmed by western blot analysis. Overall, HTLV-I antibody positivity (confirmed by western blot) was 3/47426 (0.006%). Out of 3 donors positive for HTLV-I antibody during 1997 to 1998, 2 were expatriates (Indian) and one was native Saudi donor. Human T-cell leukemia/lymphoma virus type I antibody positivity among the native Saudi donors was 1/47426 (0.002%) (2/100000 blood donors). None of the donor were positive for HTLV-II antibody. During the last 5 consecutive years of the study period (1999-2003), none of the donor was positive for HTLV-I/II antibody. Al-Hasa region is non-endemic for HTLV-I/II virus infections. Screening of native Saudi blood donors for these viruses does not appear to be cost effective.

  3. Oral-facial-digital syndrome type II: Transitional type between Mohr ...

    African Journals Online (AJOL)

    Rabah M. Shawky

    2013-04-16

    Apr 16, 2013 ... Interestingly, the patient also had mesoaxial polydactyly of the left hand with extra metacarpal bones characteristic of OFDS. ... Neurological examination showed normal tone and reflexes. Feeding was normal at .... This criticism appears justified based on reported family members with distinctive findings of ...

  4. Rules for distinguishing toxicants that cause type I and type II narcosis syndromes.

    OpenAIRE

    Veith, G D; Broderius, S J

    1990-01-01

    Narcosis is a nonspecific reversible state of arrested activity of protoplasmic structures caused by a wide variety of organic chemicals. The vast majority of industrial organic chemicals can be characterized by a baseline structure-toxicity relationship as developed for diverse aquatic organisms, using only the n-octanol/water partition coefficient as a descriptor. There are, however, many apparent narcotic chemicals that are more toxic than baseline narcosis predicts. Some of these chemical...

  5. Metabolic syndrome and periodontitis in Gullah African Americans with type 2 diabetes mellitus.

    Science.gov (United States)

    Sora, Nicoleta D; Marlow, Nicole M; Bandyopadhyay, Dipankar; Leite, Renata S; Slate, Elizabeth H; Fernandes, Jyotika K

    2013-06-01

    To assess associations of metabolic syndrome, and its individual components, with extent of severe periodontitis among patients with type 2 diabetes mellitus (T2DM). We performed a secondary data analysis (N = 283) using a cross-sectional study population of Gullah African Americans with T2DM. Extent of severe periodontitis was assessed as total diseased tooth-sites/person [evaluated as separate outcomes: 6+mm clinical attachment level (CAL), 5+mm periodontal probing depth (PPD)] using negative binomial regression techniques. Primary independent variables assessed in separate models included metabolic syndrome (yes/no), each metabolic syndrome component (low HDL, hypertension, high triglycerides, large waist circumference) and glycemic control (poor/good). Multivariable CAL-model results showed a significant association for metabolic syndrome status with extent of severe periodontitis (RR = 2.77, p = 0.03). The separate multivariable CAL-model including each metabolic syndrome component showed marginally increased rates among those with large waist circumference (RR = 2.33, p = 0.09) and those with HbA1c ≥ 7% (RR = 1.73, p = 0.06). Multivariable PPD-models showed marginally increased rates among those with metabolic syndrome (RR = 2.18, p = 0.06). Metabolic syndrome is associated with the extent of severe periodontitis in this Gullah population with T2DM. © 2013 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

  6. First Case Report of Turcot Syndrome Type 1 in Colombia

    Directory of Open Access Journals (Sweden)

    Vallejo Dora

    2012-01-01

    Full Text Available Turcot syndrome is an autosomal recessive disorder clinically characterized by the occurrence of primary tumors of the central nervous system and adenomatous colonic polyps during the first or second decades of life, with a spectrum of clinical features such as “café-au-lait” spots, axillary freckling, and hyperpigmented spots. Currently its prevalence globally and in Colombia remains unknown. We present the case of a 20-year-old male with a clinical presentation of both glioblastoma multiforme and multiple adenomatous colonic polyps. The molecular genetics study revealed a mutation in KrasAsp12 gene and altered expression of HMSH2 and HMSH6 proteins encoded by the DNA mismatch repair genes in two of the colonic polyps. Even though this clinical presentation may suggest a shorter survival rate, this patient is still alive after seven months of treatment. A literature review complements this report.

  7. Shaken baby syndrome manifesting as infantile spasms seizure type

    Directory of Open Access Journals (Sweden)

    Der-Shiun Wang

    2014-01-01

    Full Text Available The diagnosis of child maltreatment leading to head injury is challenging. Here, we present the case of a 3-month-old female infant who presented with focal seizures that lasted for several minutes. After admission, she began to show intermittent clusters of head nods, irritable crying, arching, writhing, stiffening, and jerking of both arms. These results and electroencephalography findings were attributed as the diagnosis of infantile spasms (IS. Brain computed tomography and magnetic resonance imaging (MRI revealed the presence of chronic subdural hematoma mixed with acute ischemic injuries. Examination of the eye fundus confirmed the presence of retinal hemorrhage. Therefore, all evidence pointed to a diagnosis of shaken baby syndrome (SBS. Based on this case, we suggest that physicians should consider a diagnosis of SBS for children with new-onset IS and that should be evaluated, diagnosed, and treated as promptly as possible.

  8. Prevalence of Metabolic Syndrome in Children With Type 1 Diabetes in South of Iran

    Directory of Open Access Journals (Sweden)

    Saki

    2016-08-01

    Full Text Available Objectives The aim of this study was to investigate the prevalence of metabolic syndrome, in children with type one diabetes mellitus (T1DM for the first time in a population in the Middle East, and assess the influence of type of insulin therapy, daily dosage of insulin, family history of type 2 diabetes, gender and level of HbA1c on the prevalence of metabolic syndrome. Methods This cross-sectional study was conducted on children with T1DM aged 2 years during years 2013 to 2014. Waist circumference, blood pressure, height and weight of children with diabetes, for calculation of body mass index (BMI, were measured by one physician. Fasting blood glucose and lipids were also measured. According to the age-modified standards of the ATPIII, metabolic syndrome was defined. All data were analyzed using the SPSS 18 software. Results In this study, 87 children with diabetes (48 females and 39 males aged 12.38 ± 4.2 were enrolled. Overall, 40.9% of our patients had hypertension, 55.2% had hypertriglyceridemia, 36.8% had low high-density lipoprotein (HDL and 6.9% of patients had abdominal obesity. Furthermore, 29.9% of these children had metabolic syndrome, which did not have a significant association with the type of insulin regimen (P = 0.97, nor the daily dosage of insulin (P = 0.234, however the serum concentration of HbA1c had a significant correlation with metabolic syndrome (P = 0.027. Conclusions This study provides evidence indicating high prevalence of metabolic syndrome in children with T1DM in southern Iran. Preventive programs aimed towards decreasing the risk factors of metabolic syndrome and interpretation of a healthier diet and physical activity for children with T1DM should be considered in our country.

  9. A case of Ehlers-Danlos syndrome type VIA with a novel PLOD1 gene mutation.

    Science.gov (United States)

    Tosun, Ayşe; Kurtgoz, Serkan; Dursun, Siar; Bozkurt, Gokay

    2014-10-01

    The kyphoscoliotic type of the Ehlers-Danlos syndrome is an autosomal recessive connective tissue disorder characterized by soft extensible skin, laxity of joints, severe muscle hypotonia at birth, and kyphoscoliosis. We describe a 3-year-old girl with the kyphoscoliotic type of the Ehlers-Danlos syndrome whose parents were cousins. She was born with breech presentation by vaginal delivery at term after a normal pregnancy. At birth she manifested hypotonia and congenital kyphosis. On the second postnatal day, subdural and intraparenchymal hemorrhages were detected by magnetic resonance imaging. During follow-up at 18 months of age, strabismus, umbilical hernia, kyphoscoliosis, joint laxity, bilateral hip dislocation, muscular hypotonia, and motor developmental delay. The cranial magnetic resonance imaging revealed periventricular leukomalacia and abnormal signal related to previous hemorrhage. Metabolic investigations and neuromuscular evaluation were normal, excluding other possible explanations of hypotonia. An analysis of urinary cross-links demonstrated an increase in the lysyl-pyridinoline to hydroxylysyl-pyridinoline ratio, suggesting the diagnosis of kyphoscoliotic type of the Ehlers-Danlos syndrome. Molecular analysis of the PLOD1 gene revealed that she had a novel homozygous p.Pro622Argfs*3 (c. 1863_1864dupCG) mutation in exon 17 that is expected to cause complete loss of the enzyme lysyl hydroxylase 1 and to cause kyphoscoliotic type of the Ehlers-Danlos syndrome. We describe a child with the kyphoscoliotic type of the Ehlers-Danlos syndrome with a novel mutation of the PLOD1 gene. Our observations suggest that vascular lesions in the neonatal period may be a rare additional clinical feature of kyphoscoliotic type of the Ehlers-Danlos syndrome. Copyright © 2014 Elsevier Inc. All rights reserved.

  10. Optogenetic Stimulation Shifts the Excitability of Cerebral Cortex from Type I to Type II: Oscillation Onset and Wave Propagation.

    Directory of Open Access Journals (Sweden)

    Stewart Heitmann

    2017-01-01

    Full Text Available Constant optogenetic stimulation targeting both pyramidal cells and inhibitory interneurons has recently been shown to elicit propagating waves of gamma-band (40-80 Hz oscillations in the local field potential of non-human primate motor cortex. The oscillations emerge with non-zero frequency and small amplitude-the hallmark of a type II excitable medium-yet they also propagate far beyond the stimulation site in the manner of a type I excitable medium. How can neural tissue exhibit both type I and type II excitability? We investigated the apparent contradiction by modeling the cortex as a Wilson-Cowan neural field in which optogenetic stimulation was represented by an external current source. In the absence of any external current, the model operated as a type I excitable medium that supported propagating waves of gamma oscillations similar to those observed in vivo. Applying an external current to the population of inhibitory neurons transformed the model into a type II excitable medium. The findings suggest that cortical tissue normally operates as a type I excitable medium but it is locally transformed into a type II medium by optogenetic stimulation which predominantly targets inhibitory neurons. The proposed mechanism accounts for the graded emergence of gamma oscillations at the stimulation site while retaining propagating waves of gamma oscillations in the non-stimulated tissue. It also predicts that gamma waves can be emitted on every second cycle of a 100 Hz oscillation. That prediction was subsequently confirmed by re-analysis of the neurophysiological data. The model thus offers a theoretical account of how optogenetic stimulation alters the excitability of cortical neural fields.

  11. Reflex sympathetic dystrophy/complex regional pain syndrome, type 1

    African Journals Online (AJOL)

    Enrique

    over the left ankle was also present. (Fig. 6 and Figs 7a and 7b). There was contradiction between the two diagnoses of stress fractures and CPRS type 1. As CPRS type 1 is a clinical diagnosis the boy was treated as such. He was admitted into hospital and received epidural narcotic infusion with sympathetic blockage for a ...

  12. The association of type II diabetes with gut microbiota composition.

    Science.gov (United States)

    Navab-Moghadam, Fatemeh; Sedighi, Mansour; Khamseh, Mohammad E; Alaei-Shahmiri, Fariba; Talebi, Malihe; Razavi, Shabnam; Amirmozafari, Nour

    2017-09-01

    It is known that type 2 diabetes (T2D) in humans could be linked to the composition of gut microbiota. The aim of this study was to evaluate three faecal bacterial species, including Bacteroides fragilis, Bifidobacterium longum and Faecalibacterium prausnitzii in patients with T2D. This case control study included 18 patients with T2D and 18 matched persons without diabetes. The concentrations of B. fragilis, B. longum and F. prausnitzii were determined by quantitative Real-Time PCR. Quantitative PCR analysis revealed that the gut bacterial composition in patients with T2D was partially different from that in the healthy individuals. Faecalibacterium prausnitzii was significantly lower in patients with T2D (P-value = 0.038). Bacteroides fragilis was under-represented in the microbiota of the group with diabetes, but its difference between two groups was not significant (P-value = 0.38). No difference was observed for B. longum community between the both groups (P-value = 0.99). Characterization of specific species of intestinal microbiota shows some compositional changes in patients with T2D. The results may be valuable for developing strategies to control type 2 diabetes by modifying the intestinal microbiota. Long-term studies with emphasis on other bacterial groups are suggested to clarify the association of T2D with gut microbiota. Copyright © 2017 Elsevier Ltd. All rights reserved.

  13. Type IIB flux vacua from G-theory II

    Energy Technology Data Exchange (ETDEWEB)

    Candelas, Philip [Mathematical Institute, University of Oxford,Andrew Wiles Building, Radcliffe Observatory Quarter,Woodstock Road, Oxford, OX2 6GG (United Kingdom); Constantin, Andrei [Department of Physics and Astronomy, Uppsala University,SE-751 20, Uppsala (Sweden); Damian, Cesar [Departamento de Fisica, DCI, Campus Leon, Universidad de Guanajuato,C.P. 37150, Leon, Guanajuato (Mexico); Larfors, Magdalena [Department of Physics and Astronomy, Uppsala University,SE-751 20, Uppsala (Sweden); Morales, Jose Francisco [INFN - Sezione di Roma “TorVergata”,Dipartimento di Fisica, Universita di Roma “TorVergata”, Via della Ricerca Scientica, 00133 Roma (Italy)

    2015-02-27

    We find analytic solutions of type IIB supergravity on geometries that locally take the form Mink×M{sub 4}×ℂ with M{sub 4} a generalised complex manifold. The solutions involve the metric, the dilaton, NSNS and RR flux potentials (oriented along the M{sub 4}) parametrised by functions varying only over ℂ. Under this assumption, the supersymmetry equations are solved using the formalism of pure spinors in terms of a finite number of holomorphic functions. Alternatively, the solutions can be viewed as vacua of maximally supersymmetric supergravity in six dimensions with a set of scalar fields varying holomorphically over ℂ. For a class of solutions characterised by up to five holomorphic functions, we outline how the local solutions can be completed to four-dimensional flux vacua of type IIB theory. A detailed study of this global completion for solutions with two holomorphic functions has been carried out in the companion paper http://arxiv.org/abs/1411.4785. The fluxes of the global solutions are, as in F-theory, entirely codified in the geometry of an auxiliary K3 fibration over ℂℙ{sup 1}. The results provide a geometric construction of fluxes in F-theory.

  14. Heights of Coronal Mass Ejections and Shocks Inferred from Metric and DH Type II Radio Bursts

    Science.gov (United States)

    Shanmugaraju, A.; Bendict Lawrance, M.; Moon, Y. J.; Lee, Jae-Ok; Suresh, K.

    2017-09-01

    A set of 27 continuous events that showed extension of metric Type-II radio bursts (m-Type IIs) into the deca-hectometric (DH) domain is considered. The coronal mass ejections (CMEs) associated with this type of continuous event supply more energy to produce space-weather effects than the CMEs that produce Type-II bursts in any one region. Since the heights of shock formation at the start of m-Type IIs were not available from observations, they were estimated using kinematic modeling in previous studies. In the present study, the heights of shock formation during metric and DH Type-II bursts are determined using two methods: i) the CME leading-edge method and ii) a method employing known electron-density models and start/end frequencies. In the first method, assuming that the shocks are generated by the associated CMEs at the leading edge, the height of the CME leading edge (LE) is calculated at the onset and end of m-Type IIs using the kinematic equation with constant acceleration or constant speed. The LE heights of CMEs that are assumed to be the heights of shock formation/end of nearly 79% of m-Type IIs are found to be within the acceptable range of 1 - 3 R_{⊙}. For other events, the heights are beyond this range, for which the shocks might either have been generated at the CME flanks/flare-blast waves, or the initial CME height might have been different. The CME/shock height at the onset and end of 17 DH Type IIs are found to be in the range of 2 - 6 R_{⊙} and within 30 R_{⊙}, respectively. In addition, the CME LE heights from observations at the onset and end of metric/DH Type IIs are compared with the heights corresponding to the observed frequency that is determined using the known electron-density models, and they are in agreement with the model results. The heights are also estimated using the space speed available for 15 halo CMEs, and it is found that the difference is smaller at the m-Type II start/end (0.02 to 0.66 R_{⊙}) and slightly greater

  15. Genetic influences on type 2 diabetes and metabolic syndrome related quantitative traits in Mauritius.

    Science.gov (United States)

    Jowett, Jeremy B; Diego, Vincent P; Kotea, Navaratnam; Kowlessur, Sudhir; Chitson, Pierrot; Dyer, Thomas D; Zimmet, Paul; Blangero, John

    2009-02-01

    Epidemiological studies report a high prevalence of type 2 diabetes and metabolic syndrome in the island nation of Mauritius. The Mauritius Family Study was initiated to examine heritable factors that contribute to these high rates of prevalence and consists of 400 individuals in 24 large extended multigenerational pedigrees. Anthropometric and biochemical measurements relating to the metabolic syndrome were undertaken in addition to family and lifestyle based information for each individual. Variance components methods were used to determine the heritability of the type 2 diabetes and metabolic syndrome related quantitative traits. The cohort was made up of 218 females (55%) and 182 males with 22% diagnosed with type 2 diabetes and a further 30% having impaired glucose tolerance or impaired fasting glucose. Notably BMI was not significantly increased in those with type 2 diabetes (P= .12), however a significant increase in waist circumference was observed in these groups (P= .02). The heritable proportion of trait variance was substantial and greater than values previously published for hip circumference, LDL and total cholesterol, diastolic and systolic blood pressure and serum creatinine. Height, weight and BMI heritabilities were all in the upper range of those previously reported. The phenotypic characteristics of the Mauritius family cohort are similar to those previously reported in the Mauritian population with a high observed prevalence rate of type 2 diabetes. A high heritability for key type 2 diabetes and metabolic syndrome related phenotypes (range 0.23 to 0.68), suggest the cohort will have utility in identifying genes that influence these quantitative traits.

  16. Intrathoracic drainage of a perforated prepyloric gastric ulcer with a type II paraoesophageal hernia

    Directory of Open Access Journals (Sweden)

    Zonneveld Bas JGL

    2008-12-01

    Full Text Available Abstract Background With an incidence of less than 5%, type II paraesophageal hernias are one of the less common types of hiatal hernias. We report a case of a perforated prepyloric gastric ulcer which, due to a type II hiatus hernia, drained into the mediastinum. Case presentation A 61-year old Caucasian man presented with acute abdominal pain. On a conventional x-ray of the chest a large mediastinal air-fluid collection and free intra-abdominal air was seen. Additional computed tomography revealed a large intra-thoracic air-fluid collection with a type II paraesophageal hernia. An emergency upper midline laparotomy was performed and a perforated pre-pyloric gastric ulcer was treated with an omental patch repair. The patient fully recovered after 10 days and continues to do well. Conclusion Type II paraesophageal hernia is an uncommon diagnosis. The main risk is gastric volvulus and possible gastric torsion. Intrathoracic perforation of gastric ulcers due to a type II hiatus hernia is extremely rare and can be a diagnostic and treatment challenge.

  17. Dental pulp stem cell-derived chondrogenic cells demonstrate differential cell motility in type I and type II collagen hydrogels.

    Science.gov (United States)

    Yao, Li; Flynn, Nikol

    2018-02-13

    Advances in the development of biomaterials and stem cell therapy provide a promising approach to regenerating degenerated discs. The normal nucleus pulposus (NP) cells exhibit the similar phenotype as chondrocytes. Because dental pulp stem cells (DPSCs) can be differentiated into chondrogenic cells, the DPSCs and DPSCs-derived chondrogenic cells encapsulated in type I and type II collagen hydrogels can potentially be transplanted into degenerated nucleus pulposus (NP) to repair damaged tissue. The motility of transplanted cells is critical because the cells need to migrate away from the hydrogels containing the cells of high density and disperse into the NP tissue after implantation. The purpose of this study was to determine the motility of DPSC and DPSC-derived chondrogenic cells in type I and type II collagen hydrogels. The time lapse imaging that recorded cell migration was analyzed to quantify the cell migration velocity and distance. The cell viability of DPSCs in native or 4S-StarPEG - crosslinked type I and type II collagen hydrogels was determined using LIVE/DEAD ® cell viability assay and AlamarBlue® assay. DPSCs were differentiated into chondrogenic cells. The migration of DPSCs and DPSC-derived chondrogenic cells in these hydrogels was recorded using a time lapse imaging system. This study was funded by Regional Institute on Aging and Wichita Medical Research and Education Foundation and the authors declare no competing interest. DPSCs showed high cell viability in non-crosslinked and crosslinked collagen hydrogels. DPSCs migrated in collagen hydrogels, and the cell migration speed was not significantly different in either type I collagen or type II collagen hydrogels. The migration speed of DPSC-derived chondrogenic cells was higher in type I collagen hydrogel than in type II collagen hydrogel. Crosslinking of type I collagen with 4S-StarPEG significantly reduced the cell migration speed of DPSC-derived chondrogenic cells. After implantation of

  18. The influence of hormone therapies on type I and II endometrial cancer

    DEFF Research Database (Denmark)

    Mørch, Lina S.; Kjær, Susanne K.; Keiding, Niels

    2016-01-01

    identified from the National Cancer Registry: 4,972 Type I tumors and 500 Type II tumors. Incidence rate ratios (RRs) and 95% confidence intervals (Cls) were estimated by Poisson regression. Compared with women never on HT, the RR of endometrial cancer was increased with conjugated estrogen: 4.27 (1...

  19. Crosstalk between type II NKT cells and T cells leads to spontaneous chronic inflammatory liver disease.

    Science.gov (United States)

    Weng, Xiufang; He, Ying; Visvabharathy, Lavanya; Liao, Chia-Min; Tan, Xiaosheng; Balakumar, Arjun; Wang, Chyung-Ru

    2017-10-01

    Natural killer T (NKT) cells are CD1d-restricted innate-like T cells that modulate innate and adaptive immune responses. Unlike the well-characterized invariant/type I NKT cells, type II NKT cells with a diverse T cell receptor repertoire are poorly understood. This study defines the pathogenic role of type II NKT cells in the etiology of chronic liver inflammation. Transgenic mice with the Lck promoter directing CD1d overexpression on T cells in Jα18 wild-type (Lck-CD1dTgJα18 + ; type I NKT cell sufficient) and Jα18-deficient (Lck-CD1dTgJα18 o , type I NKT cell deficient) mice were analyzed for liver pathology and crosstalk between type II NKT cells and conventional T cells. CD1d expression on T cells in peripheral blood samples and liver sections from autoimmune hepatitis patients and healthy individuals were also examined. Lck-CD1dTgJα18 o and Lck-CD1dTgJα18 + mice developed similar degrees of liver pathology resembling chronic autoimmune hepatitis in humans. Increased CD1d expression on T cells promoted the activation of type II NKT cells and other T cells. This resulted in T h 1-skewing and impaired T h 2 cytokine production in type II NKT cells. Dysfunction of type II NKT cells was accompanied by conventional T cell activation and pro-inflammatory cytokine production, leading to a hepatic T/B lymphocyte infiltration, elevated autoantibodies and hepatic injury in Lck-CD1dTg mice. A similar mechanism could be extended to humans as CD1d expression is upregulated on activated human T cells and increased presence of CD1d-expressing T cells was observed in autoimmune hepatitis patients. Our data reveals enhanced crosstalk between type II NKT cells and conventional T cells, leading to a T h 1-skewed inflammatory milieu, and consequently, to the development of chronic autoimmune liver disease. Lay summary: CD1d overexpression on T cells enhances crosstalk between type II NKT cells and T cells, resulting in their aberrant activation and leading to the

  20. Mutant cohesin affects RNA polymerase II regulation in Cornelia de Lange syndrome.

    Science.gov (United States)

    Mannini, Linda; C Lamaze, Fabien; Cucco, Francesco; Amato, Clelia; Quarantotti, Valentina; Rizzo, Ilaria M; Krantz, Ian D; Bilodeau, Steve; Musio, Antonio

    2015-11-19

    In addition to its role in sister chromatid cohesion, genome stability and integrity, the cohesin complex is involved in gene transcription. Mutations in core cohesin subunits SMC1A, SMC3 and RAD21, or their regulators NIPBL and HDAC8, cause Cornelia de Lange syndrome (CdLS). Recent evidence reveals that gene expression dysregulation could be the underlying mechanism for CdLS. These findings raise intriguing questions regarding the potential role of cohesin-mediated transcriptional control and pathogenesis. Here, we identified numerous dysregulated genes occupied by cohesin by combining the transcriptome of CdLS cell lines carrying mutations in SMC1A gene and ChIP-Seq data. Genome-wide analyses show that genes changing in expression are enriched for cohesin-binding. In addition, our results indicate that mutant cohesin impairs both RNA polymerase II (Pol II) transcription initiation at promoters and elongation in the gene body. These findings highlight the pivotal role of cohesin in transcriptional regulation and provide an explanation for the typical gene dysregulation observed in CdLS patients.

  1. Signature of type-II Weyl semimetal phase in MoTe2

    Science.gov (United States)

    Jiang, J.; Liu, Z. K.; Sun, Y.; Yang, H. F.; Rajamathi, C. R.; Qi, Y. P.; Yang, L. X.; Chen, C.; Peng, H.; Hwang, C.-C.; Sun, S. Z.; Mo, S.-K.; Vobornik, I.; Fujii, J.; Parkin, S. S. P.; Felser, C.; Yan, B. H.; Chen, Y. L.

    2017-01-01

    Topological Weyl semimetal (TWS), a new state of quantum matter, has sparked enormous research interest recently. Possessing unique Weyl fermions in the bulk and Fermi arcs on the surface, TWSs offer a rare platform for realizing many exotic physical phenomena. TWSs can be classified into type-I that respect Lorentz symmetry and type-II that do not. Here, we directly visualize the electronic structure of MoTe2, a recently proposed type-II TWS. Using angle-resolved photoemission spectroscopy (ARPES), we unravel the unique surface Fermi arcs, in good agreement with our ab initio calculations that have nontrivial topological nature. Our work not only leads to new understandings of the unusual properties discovered in this family of compounds, but also allows for the further exploration of exotic properties and practical applications of type-II TWSs, as well as the interplay between superconductivity (MoTe2 was discovered to be superconducting recently) and their topological order.

  2. Na+ currents in vestibular type I and type II hair cells of the embryo and adult chicken.

    Science.gov (United States)

    Masetto, S; Bosica, M; Correia, M J; Ottersen, O P; Zucca, G; Perin, P; Valli, P

    2003-08-01

    In birds, type I and type II hair cells differentiate before birth. Here we describe that chick hair cells, from the semicircular canals, begin expressing a voltage-dependent Na current (INa) from embryonic day 14 (E14) and continue to express the current up to hatching (E21). During this period, INa was present in most (31/43) type I hair cells irrespective of their position in the crista, in most type II hair cells located far from the planum semilunatum (48/63), but only occasionally in type II hair cells close to the planum semilunatum (2/35). INa activated close to -60 mV, showed fast time- and voltage-dependent activation and inactivation, and was completely, and reversibly, blocked by submicromolar concentrations of tetrodotoxin (Kd = 17 nM). One peculiar property of INa concerns its steady-state inactivation, which is complete at -60 mV (half-inactivating voltage = -96 mV). INa was found in type I and type II hair cells from the adult chicken as well, where it had similar, although possibly not identical, properties and regional distribution. Current-clamp experiments showed that INa could contribute to the voltage response provided that the cell membrane was depolarized from holding potentials more negative than -80 mV. When recruited, INa produced a significant acceleration of the cell membrane depolarization, which occasionally elicited a large rapid depolarization followed by a rapid repolarization (action-potential-like response). Possible physiological roles for INa in the embryo and adult chicken are discussed.

  3. Massively parallel DNA sequencing facilitates diagnosis of patients with Usher syndrome type 1.

    Directory of Open Access Journals (Sweden)

    Hidekane Yoshimura

    Full Text Available Usher syndrome is an autosomal recessive disorder manifesting hearing loss, retinitis pigmentosa and vestibular dysfunction, and having three clinical subtypes. Usher syndrome type 1 is the most severe subtype due to its profound hearing loss, lack of vestibular responses, and retinitis pigmentosa that appears in prepuberty. Six of the corresponding genes have been identified, making early diagnosis through DNA testing possible, with many immediate and several long-term advantages for patients and their families. However, the conventional genetic techniques, such as direct sequence analysis, are both time-consuming and expensive. Targeted exon sequencing of selected genes using the massively parallel DNA sequencing technology will potentially enable us to systematically tackle previously intractable monogenic disorders and improve molecular diagnosis. Using this technique combined with direct sequence analysis, we screened 17 unrelated Usher syndrome type 1 patients and detected probable pathogenic variants in the 16 of them (94.1% who carried at least one mutation. Seven patients had the MYO7A mutation (41.2%, which is the most common type in Japanese. Most of the mutations were detected by only the massively parallel DNA sequencing. We report here four patients, who had probable pathogenic mutations in two different Usher syndrome type 1 genes, and one case of MYO7A/PCDH15 digenic inheritance. This is the first report of Usher syndrome mutation analysis using massively parallel DNA sequencing and the frequency of Usher syndrome type 1 genes in Japanese. Mutation screening using this technique has the power to quickly identify mutations of many causative genes while maintaining cost-benefit performance. In addition, the simultaneous mutation analysis of large numbers of genes is useful for detecting mutations in different genes that are possibly disease modifiers or of digenic inheritance.

  4. GREEN DIPLOMACY-A NEW TYPE OF INTERNATIONAL COOPERATION (II

    Directory of Open Access Journals (Sweden)

    Elena IFTIME

    2014-07-01

    Full Text Available We mention our attempt in a broader context reserved to a generous theme, of a great complexity and of a strict actuality that aims the planet’s health, of human and of other forms of living and nonliving forms of life. Particularly insisting on legal international coordinates of environmental protection and conservation, through which are being accomplished the valences of human’s right to a prosperous, healthy and ecologically balanced environment. This right occupies a central place among human rights, one of those essential gifts of nature to which no one should be detrimental to. It is considered to be a law of human solidarity consecrated by international and internal regulations, which involves in its content: the right to live in an unpolluted environment, which is not degraded by activities that can affect the environment, health, human welfare, sustainable development of society; the right to the highest medical care, unaffected by environmental degradation; right to a healthy working environment; right to benefit of durable usage of nature and its resources, the right to adequate water resources and food. This valences exercise of this right in the context of each state’s internal affairs, but especially in the life of international community, involves a new type of international cooperation suggestively called green diplomacy. It is a special form of the classical diplomacy, adapted to the specific and universality of environmental problems, particularly in the second half of the second century onwards. A diplomacy that seeks to harmonize the interests of a state and other’s interests along with the interests of every human being on the Planet, concerning the conservation and development of natural conditions of life. The major objective of this modern type of diplomacy is highlighted to empower the human beings, the micro and macro human community towards protecting, conserving and sustainable development of the Earth

  5. The impaired proprioception in Ehlers-Danlos Syndrome-Hypermobility Type/Joint hypermobility Syndrome: the rehabilitation role

    Directory of Open Access Journals (Sweden)

    Filippo Camerota

    2015-10-01

    Full Text Available Ehlers-Danlos Syndrome Hypermobility Type/Joint Hypermobility Syndrome (JHS/EDS-HT is an hereditary disorder of the connective tissue mainly manifesting with generalized joint hypermobility and skin hyperextensibility with an involvement of the connective tissue matrix proteins. Collagen alterations may influence the quality of movement in these patients but also movement has a role for the collagen quality: motion has a prevention role in the formation of contractures and adhesions. A poor sense of proprioception correlated with the collagenous connective tissues alterations could explain why people with JHS/EDS-HT become injured, having a lack of sensation of the joint at the end of the range. Rehabilitation approach may consider all these aspects.

  6. Impaired glucose tolerance, type 2 diabetes and metabolic syndrome in polycystic ovary syndrome: a systematic review and meta-analysis.

    Science.gov (United States)

    Moran, Lisa J; Misso, Marie L; Wild, Robert A; Norman, Robert J

    2010-01-01

    BACKGROUND Polycystic ovary syndrome (PCOS) is a common condition in reproductive-aged women associated with impaired glucose tolerance (IGT), type 2 diabetes mellitus (DM2) and the metabolic syndrome. METHODS A literature search was conducted (MEDLINE, CINAHL, EMBASE, clinical trial registries and hand-searching) identifying studies reporting prevalence or incidence of IGT, DM2 or metabolic syndrome in women with and without PCOS. Data were presented as odds ratio (OR) [95% confidence interval (CI)] with fixed- and random-effects meta-analysis by Mantel-Haenszel methods. Quality testing was based on Newcastle-Ottawa Scaling and The Cochrane Collaboration's risk of bias assessment tool. Literature searching, data abstraction and quality appraisal were performed by two investigators. RESULTS A total of 2192 studies were reviewed and 35 were selected for final analysis. Women with PCOS had increased prevalence of IGT (OR 2.48, 95% CI 1.63, 3.77; BMI-matched studies OR 2.54, 95% CI 1.44, 4.47), DM2 (OR 4.43, 95% CI 4.06, 4.82; BMI-matched studies OR 4.00, 95% CI 1.97, 8.10) and metabolic syndrome (OR 2.88, 95% CI 2.40, 3.45; BMI-matched studies OR 2.20, 95% CI 1.36, 3.56). One study assessed IGT/DM2 incidence and reported no significant differences in DM2 incidence (OR 2.07, 95% CI 0.68, 6.30). One study assessed conversion from normal glucose tolerance to IGT/DM2 (OR 2.4, 95% CI 0.7, 8.0). No studies reported metabolic syndrome incidence. CONCLUSIONS Women with PCOS had an elevated prevalence of IGT, DM2 and metabolic syndrome in both BMI and non-BMI-matched studies. Few studies have determined IGT/DM2 or metabolic syndrome incidence in women with and without PCOS and further research is required.

  7. Lifshitz Transitions, Type-II Dirac and Weyl Fermions, Event Horizon and All That

    Science.gov (United States)

    Volovik, G. E.; Zhang, K.

    2017-12-01

    The type-II Weyl and type-II Dirac points emerge in semimetals and also in relativistic systems. In particular, the type-II Weyl fermions may emerge behind the event horizon of black holes. In this case the horizon with Painlevé-Gullstrand metric serves as the surface of the Lifshitz transition. This relativistic analogy allows us to simulate the black hole horizon and Hawking radiation using the fermionic superfluid with supercritical velocity, and the Dirac and Weyl semimetals with the interface separating the type-I and type-II states. The difference between such type of the artificial event horizon and that which arises in acoustic metric is discussed. At the Lifshitz transition between type-I and type-II fermions the Dirac lines may also emerge, which are supported by the combined action of topology and symmetry. The type-II Weyl and Dirac points also emerge as the intermediate states of the topological Lifshitz transitions. Different configurations of the Fermi surfaces, involved in such Lifshitz transition, are discussed. In one case the type-II Weyl point connects the Fermi pockets and the Lifshitz transition corresponds to the transfer of the Berry flux between the Fermi pockets. In the other case the type-II Weyl point connects the outer and inner Fermi surfaces. At the Lifshitz transition the Weyl point is released from both Fermi surfaces. They loose their Berry flux, which guarantees the global stability, and without the topological support the inner surface disappears after shrinking to a point at the second Lifshitz transition. These examples reveal the complexity and universality of topological Lifshitz transitions, which originate from the ubiquitous interplay of a variety of topological characters of the momentum-space manifolds. For the interacting electrons, the Lifshitz transitions may lead to the formation of the dispersionless (flat) band with zero energy and singular density of states, which opens the route to room

  8. Analysis of predisposing factors in elderly people with type II odontoid fracture.

    Science.gov (United States)

    Watanabe, Masahiko; Sakai, Daisuke; Yamamoto, Yukihiro; Nagai, Toshihiro; Sato, Masato; Mochida, Joji

    2014-06-01

    Type II odontoid fracture is the most frequent individual fracture in elderly people. An older person usually sustains a Type II odontoid fracture in a fall from standing or a seated height. A relationship between osteoarthritis in the upper cervical spine and Type II odontoid fracture has been reported. However, to our knowledge, few reports have investigated statistically whether disproportionate degeneration between joints influences the susceptibility to fracture. The purpose of this study was to assess predisposition to Type II odontoid fracture in the elderly. Retrospective review of elderly patients sustained Type II odontoid fracture and other axis fractures. Thirty-eight patients aged 65 years and older with axis fractures. Evaluation of computed tomography findings by focusing on osteoporosis and the disproportion in degeneration between each of the upper cervical joints (atlantooccipital, atlantoodontoid, and lateral atlantoaxial joints). Seventeen patients had a Type II odontoid fracture, and 21 patients had other axis fractures. Using the computed tomography findings, we classified osteoporosis at the dens-body junction and the severity of degenerative changes in the atlantoodontoid, atlantooccipital, and lateral atlantoaxial joints as none, mild, moderate, or severe. The proportion of patients with moderate or severe osteoporosis and degenerative changes in each joint and that of patients with disproportionate degenerative changes between joints (difference in grade of ≥2 levels between joints) were compared statistically. The authors report no conflict of interest concerning the materials or methods used in this study or the findings specified in this article. Patients with osteoporosis and with disproportionate degenerative changes between the atlantoodontoid and lateral atlantoaxial joints were significantly more likely to have a Type II odontoid fracture than other axis fractures. These two factors were also assessed in multivariate logistic

  9. Structural and Molecular Properties of Insect Type II Motor Axon Terminals

    Directory of Open Access Journals (Sweden)

    Bettina Stocker

    2018-03-01

    Full Text Available A comparison between the axon terminals of octopaminergic efferent dorsal or ventral unpaired median neurons in either desert locusts (Schistocerca gregaria or fruit flies (Drosophila melanogaster across skeletal muscles reveals many similarities. In both species the octopaminergic axon forms beaded fibers where the boutons or varicosities form type II terminals in contrast to the neuromuscular junction (NMJ or type I terminals. These type II terminals are immunopositive for both tyramine and octopamine and, in contrast to the type I terminals, which possess clear synaptic vesicles, only contain dense core vesicles. These dense core vesicles contain octopamine as shown by immunogold methods. With respect to the cytomatrix and active zone peptides the type II terminals exhibit active zone-like accumulations of the scaffold protein Bruchpilot (BRP only sparsely in contrast to the many accumulations of BRP identifying active zones of NMJ type I terminals. In the fruit fly larva marked dynamic changes of octopaminergic fibers have been reported after short starvation which not only affects the formation of new branches (“synaptopods” but also affects the type I terminals or NMJs via octopamine-signaling (Koon et al., 2011. Our starvation experiments of Drosophila-larvae revealed a time-dependency of the formation of additional branches. Whereas after 2 h of starvation we find a decrease in “synaptopods”, the increase is significant after 6 h of starvation. In addition, we provide evidence that the release of octopamine from dendritic and/or axonal type II terminals uses a similar synaptic machinery to glutamate release from type I terminals of excitatory motor neurons. Indeed, blocking this canonical synaptic release machinery via RNAi induced downregulation of BRP in neurons with type II terminals leads to flight performance deficits similar to those observed for octopamine mutants or flies lacking this class of neurons (Brembs et al., 2007.

  10. Apparent diffusion coefficient vale of the brain in patients with Gaucher's disease type II and type III

    International Nuclear Information System (INIS)

    Abdel Razek, Ahmed Abdel Khalek; Abd El-Gaber, Nahed; Abdalla, Ahmed; Fathy, Abeer; Azab, Ahmed; Rahman, Ashraf Abdel

    2009-01-01

    The aim of this work is to assess the usefulness of apparent diffusion coefficient (ADC) value of the brain for diagnosis of patients with Gaucher's disease type II and type III. Prospective study was conducted upon 13 patients (nine boys and four girls aged 8 months-14 years: mean 6.1 years) with Gaucher's disease type II and III and for age-matched control group (n = 13). Diffusion-weighted magnetic resonance imaging using a single-shot echo-planar imaging with a diffusion-weighted factor b of 0, 500, and 1,000 s/mm 2 was done for all patients and volunteers. The ADC value was calculated in ten regions of the brain parenchyma and correlated with genotyping. There was significantly lower ADC value of the cortical frontal (P = 0.003), cortical temporal (P = 0.04), frontal subcortical white matter (P = 0.02), corticospinal tract (P = 0.001), cerebellum (P = 0.001), medulla (P = 0.002), and midbrain (P = 0.02) between patients and volunteers. There was significant difference in the ADC value of the frontal and temporal gray matter (P = 0.04 and 0.05, respectively) between patients with heterozygous and homozygous gene mutation. We concluded that ADC value is a new promising quantitative imaging parameter that can be used for the detection of brain abnormalities in patients with Gaucher's disease type II and type III and has a correlation with genotyping. (orig.)

  11. Type Ia supernova rate studies from the SDSS-II Supernova Study

    Energy Technology Data Exchange (ETDEWEB)

    Dilday, Benjamin [Univ. of Chicago, IL (United States)

    2008-08-01

    The author presents new measurements of the type Ia SN rate from the SDSS-II Supernova Survey. The SDSS-II Supernova Survey was carried out during the Fall months (Sept.-Nov.) of 2005-2007 and discovered ~ 500 spectroscopically confirmed SNe Ia with densely sampled (once every ~ 4 days), multi-color light curves. Additionally, the SDSS-II Supernova Survey has discovered several hundred SNe Ia candidates with well-measured light curves, but without spectroscopic confirmation of type. This total, achieved in 9 months of observing, represents ~ 15-20% of the total SNe Ia discovered worldwide since 1885. The author describes some technical details of the SN Survey observations and SN search algorithms that contributed to the extremely high-yield of discovered SNe and that are important as context for the SDSS-II Supernova Survey SN Ia rate measurements.

  12. Semiclassical theory of anomalous transport in type-II topological Weyl semimetals

    Science.gov (United States)

    McCormick, Timothy M.; McKay, Robert C.; Trivedi, Nandini

    2017-12-01

    Weyl semimetals possess low-energy excitations which act as monopoles of Berry curvature in momentum space. These emergent monopoles are at the heart of the many novel transport properties that Weyl semimetals exhibit. The singular nature of the Berry curvature around the nodal points in Weyl semimetals allows for the possibility of large anomalous transport coefficients in zero applied magnetic field. Recently, a new class, termed type-II Weyl semimetals, has been demonstrated in a variety of materials, where the Weyl nodes are tilted. We present here a theoretical study of anomalous transport in this new class of Weyl semimetals. We find that the parameter governing the tilt of these type-II Weyl points is intimately related to the zero-field transverse transport properties. We also find that the temperature dependence of the chemical potential plays an important role in determining how the transport coefficients can effectively probe the Berry curvature of the type-II Weyl points. In particular, we find that the transverse thermoelectric transport coefficient Lxy E T is strongly enhanced with the tilt of the type-II Weyl nodes and with increasing temperature. We also discuss the experimental implications of our work for time-reversal breaking type-II Weyl semimetals.

  13. Erythrocyte Membrane Antigen Frequencies in Patients with Type II Congenital Smell Loss

    Science.gov (United States)

    Stateman, William A.; Henkin, Robert I.; Knöppel, Alexandra; Flegel, Willy A.

    2014-01-01

    OBJECTIVE The objective of this study was to determine whether there are genetic factors associated with Type II congenital smell loss. STUDY DESIGN The expression frequencies of 16 erythrocyte antigens among patients with Type II congenital smell loss were determined and compared to those of a large control group. METHODS Blood samples were obtained from 99 patients with Type II congenital smell loss. Presence of the erythrocyte surface antigens A, B, M, N, S, s, Fya, Fyb, D, C, c, E, e, K, Jka, and Jkb was analyzed by blood group serology. Comparisons of expression frequencies of these antigens were made between the patients and a large control group. RESULTS Patients tested for the Duffy b antigen (Fyb haplotype) exhibited a statistically significant 11% decrease in expression frequency compared to the controls. There were no significant differences between patients and controls in the expression frequencies for all other erythrocyte antigens (A, B, M, N, S, s, Fya, D, C, c, E, e, K, Jka, or Jkb). CONCLUSIONS These findings describe the presence of a previously unrevealed genetic tendency among patients with Type II congenital smell loss related to erythrocyte surface antigen expression. The deviation in expression rate of Duffy b suggests a target gene and chromosome region in which future research into this form of congenital smell loss may reveal a more specific genetic basis for Type II congenital smell loss. PMID:25456515

  14. In vivo metabolism of pulmonary alveolar epithelial type II pneumonocytes and macrophages from Syrian hamsters

    International Nuclear Information System (INIS)

    Pfleger, R.C.; Waide, J.J.

    1976-01-01

    Young adult Syrian hamsters were injected intraperitoneally with 14 C-glycerol and 3 H-palmitate 17 hr before they were sacrificed and pulmonary alveolar epithelial type II cells and pulmonary alveolar macrophages (PAM) were isolated. Incorporation of the two labeled components into the cellular lipids showed that the 3 H-specific activity of the phospholipids from the type II cells was three times that of the PAM and the utilization of 14 C-glycerol into phosphatidyl choline (PC) was 50% greater than incorporation into the PC from PAMs. The PC from type II cells showed that 30% was disaturated and from PAMs 21% was disaturated. Another phosphatide, phosphatidyl glycerol contained about one-third of the molecules in disaturated form. These data are consistent with the view that both type II cells and PAMs can synthesize surface-active phospholipids but it is generally accepted that only the pulmonary alveolar epithelial type II cells excrete the disaturated phospholipids which comprise the surface-active components of pulmonary surfactant

  15. Formation of a DNA Mini-Dumbbell with a Quasi-Type II Loop.

    Science.gov (United States)

    Liu, Yuan; Guo, Pei; Lam, Sik Lok

    2017-03-30

    Quasi-loops, wherein the backbone has a discontinuous site in the loop, have been found to provide structural flexibility in the formation of DNA three-way junctions. Recently, a highly compact mini-dumbbell (MDB) structure composed of two adjacent CCTG or TTTA type II loops has been reported. Yet, it remains elusive if the presence of a quasi-loop will also facilitate the formation of an MDB. In this study, the possibility of whether an MDB can be formed containing a quasi-type II loop has been investigated. We first demonstrate that two adjacent CTTG type II loops can also form an MDB, which is thermodynamically more stable than those formed by CCTG and TTTA loops. Then, we systematically introduce quasi-type II loops with their discontinuous sites at different backbone positions in the CTTG MDB. Our results show that an MDB can be formed with a quasi-type II loop, in which there is a discontinuous site between the third thymine and the fourth guanine loop residues. The possible inclusion of a quasi-loop in MDBs expands the sequence criteria for the formation of MDBs by natural DNA sequences.

  16. Osteogenesis imperfecta type III/Ehlers-Danlos overlap syndrome in a Chinese man.

    Science.gov (United States)

    Lu, Yanqin; Wang, Yanzhou; Rauch, Frank; Li, Hu; Zhang, Yao; Zhai, Naixiang; Zhang, Jian; Ren, Xiuzhi; Han, Jinxiang

    2018-02-01

    Osteogenesis imperfecta (OI) and Ehlers-Danlos syndrome (EDS) are rare genetic disorders that are typically inherited in an autosomal dominant manner. Few cases of OI/EDS overlap syndrome have been documented. Described here is a 30-year-old Chinese male with OI type III and EDS. Sequencing of genomic DNA revealed a heterozygous COL1A1 mutation (c.671G>A, p.Gly224Asp) that affected the N-anchor domain of the alpha 1 chain of collagen type I. Ultrastructural analysis of a skin biopsy specimen revealed thin collagen fibers with irregular alignment of collagen fibers. These findings have expanded the genotypic spectrum of the OI/EDS overlap syndrome.

  17. Sanfilippo's syndrome type C - the first known case in South Africa

    International Nuclear Information System (INIS)

    Peterson, E.M.

    1986-01-01

    The clinical, radiological and biochemical findings in a black girl with a rare, inherited mucopolysaccharide storage disease, Sanfilippo's syndrome (mucopoly-saccharidosis (MPS) III) type C, are described. Practical points concerning the biochemical diagnosis of this condition, arising from unusual characteristics of the deficient enzyme acetyl CoA: α-glucosaminide N-acetyltransherase, are discussed. Some information also occurs about the abnormal uptake of radiolabelled sulphur ( 35 SO 4 ). Because phenotypic manifestations of mucopolysaccharidosis are mild in all four types of Sanfilippo's syndrome and screening tests for mucopolysacchariduria in these patients may be negative, many cases may be passed unrecognized or simply labelled as cases of nonspecific mental retardation. It is suggested that Sanfilippo's syndrome is grossly underdiagnosed in the RSA and clinicians are urged to develop a greater awareness of the existence, and often subtle presentation, of the condition

  18. Silver nanowire interactions with primary human alveolar type-II epithelial cell secretions: contrasting bioreactivity with human alveolar type-I and type-II epithelial cells

    Science.gov (United States)

    Sweeney, Sinbad; Theodorou, Ioannis G.; Zambianchi, Marta; Chen, Shu; Gow, Andrew; Schwander, Stephan; Zhang, Junfeng (Jim); Chung, Kian Fan; Shaffer, Milo S. P.; Ryan, Mary P.; Porter, Alexandra E.; Tetley, Teresa D.

    2015-06-01

    Inhaled nanoparticles have a high deposition rate in the alveolar units of the deep lung. The alveolar epithelium is composed of type-I and type-II epithelial cells (ATI and ATII respectively) and is bathed in pulmonary surfactant. The effect of native human ATII cell secretions on nanoparticle toxicity is not known. We investigated the cellular uptake and toxicity of silver nanowires (AgNWs; 70 nm diameter, 1.5 μm length) with human ATI-like cells (TT1), in the absence or presence of Curosurf® (a natural porcine pulmonary surfactant with a low amount of protein) or harvested primary human ATII cell secretions (HAS; containing both the complete lipid as well as the full protein complement of human pulmonary surfactant i.e. SP-A, SP-B, SP-C and SP-D). We hypothesised that Curosurf® or HAS would confer improved protection for TT1 cells, limiting the toxicity of AgNWs. In agreement with our hypothesis, HAS reduced the inflammatory and reactive oxygen species (ROS)-generating potential of AgNWs with exposed TT1 cells. For example, IL-8 release and ROS generation was reduced by 38% and 29%, respectively, resulting in similar levels to that of the non-treated controls. However in contrast to our hypothesis, Curosurf® had no effect. We found a significant reduction in AgNW uptake by TT1 cells in the presence of HAS but not Curosurf. Furthermore, we show that the SP-A and SP-D are likely to be involved in this process as they were found to be specifically bound to the AgNWs. While ATI cells appear to be protected by HAS, evidence suggested that ATII cells, despite no uptake, were vulnerable to AgNW exposure (indicated by increased IL-8 release and ROS generation and decreased intracellular SP-A levels one day post-exposure). This study provides unique findings that may be important for the study of lung epithelial-endothelial translocation of nanoparticles in general and associated toxicity within the alveolar unit.Inhaled nanoparticles have a high deposition rate in

  19. A gene for the mouse pink-eyed dilution locus and for human type II oculocutaneous albinism.

    Science.gov (United States)

    Rinchik, E M; Bultman, S J; Horsthemke, B; Lee, S T; Strunk, K M; Spritz, R A; Avidano, K M; Jong, M T; Nicholls, R D

    1993-01-07

    The mouse pink-eyed dilution (p) locus on chromosome 7 is associated with defects of skin, eye and coat pigmentation. Mutations at p cause a reduction of eumelanin (black-brown) pigment and altered morphology of black pigment granules (eumelanosomes), but have little effect on pheomelanin (yellow-red) pigment. We show here that the human complementary DNA DN10, linked to the p locus in mice, identifies the human homologue (P) of the mouse p gene, and appears to encode an integral membrane transporter protein. The expression pattern of this gene in various p mutant mice correlates with the pigmentation phenotype; moreover, an abnormally sized messenger RNA is detected in one mutant, p(un), which reverts to the normal size in p(un) revertants. The human P gene corresponds to the D15S12 locus within the chromosome segment 15q11-q13, which is typically deleted in patients with Prader-Willi and Angelman syndrome (see ref. 5 for review). These disorders are phenotypically distinct, depending on the parent of origin of the deleted chromosome, but both syndromes are often associated with hypopigmentation of the skin, hair and eyes (see ref. 8 for review), and deletion of the P gene may be responsible for this hypopigmentation. In addition, we report a mutation in both copies of the human P gene in one case of tyrosinase-positive (type II) oculocutaneous albinism, recently linked to 15q11-q13 (ref. 9).

  20. Macrophage-to-sensory neuron crosstalk mediated by Angiotensin II type-2 receptor elicits neuropathic pain

    OpenAIRE

    Krause, Eric; Shepherd, Andrew; Mickle, Aaron; Copits, Bryan; Karlsson, Pall; Kadunganattil, Suraj; Golden, Judith; Tadinada, Satya; Mack, Madison; Haroutounian, Simon; De Kloet, Annette; Samineni, Vijay; Valtcheva, Manouela; Mcilvried, Lisa; Sheahan, Tayler

    2017-01-01

    Peripheral nerve damage initiates a complex series of cellular and structural processes that culminate in chronic neuropathic pain. Our study defines local angiotensin signaling via activation of the Angiotensin II (Ang II) type-2 receptor (AT2R) on macrophages as the critical trigger of neuropathic pain. An AT2R-selective antagonist attenuates neuropathic, but not inflammatory pain hypersensitivity in mice, and requires the cell damage-sensing ion channel transient receptor potential family-...