Prostaglandins E and F in endocrine diarrheagenic syndromes.

PubMed Central

Jaffe, B M; Condon, S

1976-01-01

The role of prostaglandins in endocrine diarrheagenic syndromes was evaluated by measuring peripheral concentration of immunoreactive PGE and PGF in patients with non-endocrine diarrhea as well as those with the Zollinger-Ellison (Z-E) syndrome, MCT, carcinoid tumors and the WDHA syndrome. In 21 normals, PGE and PGF levels averaged 272 +/- 18 and 119 +/- 14 pg/ml, respectively. Twenty eight patients with diarrhea of non-endocrine origin (mainly inflammatory bowel disease) had levels indistinguishable from normal, i.e. 353 +/- 25 and 77 +/- 37 pg/ml, respectively. Among 29 patients with the Zollinger-Ellison syndrome (mean gastrin 6127 +/- 3267 pg/ml) only 2 had significantly elevated PGE levels; mean PGE levels, 382 +/- 32 pg/ml, were not significantly different from normal and did not correlate with either diarrhea or the serum gastrin concentration. In contrast, 18 of 22 patients with carcinoid tumors (mean blood serotonin concentration 1655 +/- 604 ng/ml; mean urinary excretion of 5 HIAA 66.8 +/- 16.7 mg/day) had elevated peripheral concentrations of PGE. The mean PGE level (1367 +/- 245 pg/ml) was significantly elevated (P less than 0.001). Nonetheless PGE levels did not correlate with diarrhea, blood concentrations of serotonin, or urinary indole excretion. MCT (mean serum calcitonin 24.5 +/- 6.3 ng/ml) was similarly associated with consistent (18/19) elevation in peripheral concentrations of PGE (mean 1922 +/- 541 pg/ml; P less than 0.001). Inthis syndrome, PGE levels were higher in patients with diarrhea and in those with markedly elevated serum thyrocalcitonin levels. Finally, 8 of 21 patients with the WDHA syndrome had increased levels of PGE. Although 13 of 17 patients had high levels of VIP (mean 8133 pg/ml), 2 patients had hyperprostaglandinemia in the face of normal peripheral concentrations of VIP. In one patient the serum PGE level was elevated prior to resection of the primary pancreatic neoplasm (9939 pg/ml) as well as the subsequent extirpation of

Diverticulosis and Diverticulitis

MedlinePlus

... Digestive System & How it Works Zollinger-Ellison Syndrome Diverticular Disease View or Print All Sections Definition & Facts Diverticulosis is a condition that occurs when small pouches, or sacs, form and push outward through weak spots in the wall of your colon. In diverticulitis, one or a few of the ...

21 CFR 862.1320 - Gastric acidity test system.

Code of Federal Regulations, 2013 CFR

2013-04-01

... and treatment of patients with peptic ulcer, Zollinger-Ellison syndrome (peptic ulcer due to gastrin... 21 Food and Drugs 8 2013-04-01 2013-04-01 false Gastric acidity test system. 862.1320 Section 862....1320 Gastric acidity test system. (a) Identification. A gastric acidity test system is a device...

21 CFR 862.1320 - Gastric acidity test system.

Code of Federal Regulations, 2011 CFR

2011-04-01

... and treatment of patients with peptic ulcer, Zollinger-Ellison syndrome (peptic ulcer due to gastrin... 21 Food and Drugs 8 2011-04-01 2011-04-01 false Gastric acidity test system. 862.1320 Section 862....1320 Gastric acidity test system. (a) Identification. A gastric acidity test system is a device...

Causes of death and prognostic factors in multiple endocrine neoplasia type 1: a prospective study: comparison of 106 MEN1/Zollinger-Ellison syndrome patients with 1613 literature MEN1 patients with or without pancreatic endocrine tumors.

PubMed

Ito, Tetsuhide; Igarashi, Hisato; Uehara, Hirotsugu; Berna, Marc J; Jensen, Robert T

2013-05-01

Multiple endocrine neoplasia type 1 (MEN1) is classically characterized by the development of functional or nonfunctional hyperplasia or tumors in endocrine tissues (parathyroid, pancreas, pituitary, adrenal). Because effective treatments have been developed for the hormone excess state, which was a major cause of death in these patients in the past, coupled with the recognition that nonendocrine tumors increasingly develop late in the disease course, the natural history of the disease has changed. An understanding of the current causes of death is important to tailor treatment for these patients and to help identify prognostic factors; however, it is generally lacking.To add to our understanding, we conducted a detailed analysis of the causes of death and prognostic factors from a prospective long-term National Institutes of Health (NIH) study of 106 MEN1 patients with pancreatic endocrine tumors with Zollinger-Ellison syndrome (MEN1/ZES patients) and compared our results to those from the pooled literature data of 227 patients with MEN1 with pancreatic endocrine tumors (MEN1/PET patients) reported in case reports or small series, and to 1386 patients reported in large MEN1 literature series. In the NIH series over a mean follow-up of 24.5 years, 24 (23%) patients died (14 MEN1-related and 10 non-MEN1-related deaths). Comparing the causes of death with the results from the 227 patients in the pooled literature series, we found that no patients died of acute complications due to acid hypersecretion, and 8%-14% died of other hormone excess causes, which is similar to the results in 10 large MEN1 literature series published since 1995. In the 2 series (the NIH and pooled literature series), two-thirds of patients died from an MEN1-related cause and one-third from a non-MEN1-related cause, which agrees with the mean values reported in 10 large MEN1 series in the literature, although in the literature the causes of death varied widely. In the NIH and pooled literature

Fred P. Ellison and Portuguese Program Development

ERIC Educational Resources Information Center

Milleret, Margo

2016-01-01

The written record of Ellison's involvement in Portuguese program development begins in 1964 when he became chairman of the Portuguese Language Development Group that met at several Modern Language Association meetings before being accepted by the American Association of Teachers of Spanish and Portuguese (AATSP) in 1967. The record ends in the…

Gastrointestinal involvement in systemic mastocytosis.

PubMed Central

Ammann, R W; Vetter, D; Deyhle, P; Tschen, H; Sulser, H; Schmid, M

1976-01-01

Four consecutive patients with systemic mastocytosis were studied. One patient had a malabsorption syndrome with only minor histological changes of the intestinal mucosa. Another patient with ulcer diathesis had a gastric secretory pattern resembling Zollinger-Ellison syndrome. Serum gastrin and histamine levels were consistently normal in all patients. Endoscopy of stomach and colon disclosed urticaria-like papulae either spontaneously or after topical provocation in all patients. No increase of mast cells was found in multiple mucosal biopsies. A markedly increased gastric tissue content of histamine was found, however, in the three patients studied. The findings suggest that urticaria-like lesions associated with a high tissue content of histamine may be more important that hyperhistaminaemia in causing the various gastrointestinal symptoms. PMID:1261881

The Use of Cimetidine in Hospitalized Patients

PubMed Central

Kopala, Lili

1984-01-01

Cimetidine is the most commonly prescribed drug in North America. A clinical review was conducted to identify physicians' prescribing habits. From September 1, 1981 to March 31, 1982, the charts were reviewed of 50 patients receiving cimetidine in an isolated coastal community hospital in British Columbia. It was discovered that physicians prescribed the drug for reasons approved by the Food and Drug Administration (FDA) only 14% of the time. The FDA guidelines approve cimetidine for duodenal ulcer, Zollinger-Ellison syndrome, and other hypersecretory states. A literature review was conducted, and guidelines on prescribing cimetidine were given to all members of the hospital's medical staff. PMID:21283494

The use of cimetidine in hospitalized patients.

PubMed

Kopala, L

1984-01-01

Cimetidine is the most commonly prescribed drug in North America. A clinical review was conducted to identify physicians' prescribing habits. From September 1, 1981 to March 31, 1982, the charts were reviewed of 50 patients receiving cimetidine in an isolated coastal community hospital in British Columbia. It was discovered that physicians prescribed the drug for reasons approved by the Food and Drug Administration (FDA) only 14% of the time. The FDA guidelines approve cimetidine for duodenal ulcer, Zollinger-Ellison syndrome, and other hypersecretory states. A literature review was conducted, and guidelines on prescribing cimetidine were given to all members of the hospital's medical staff.

"O tradutor e os seus trebelhos": Fred P. Ellison and Translation

ERIC Educational Resources Information Center

Frizzi, Adria

2016-01-01

In this article, Adria Frizzi provides a brief overview of Fred Ellison's work in the field of literary translation. Frizzi does so by outlining Ellison's trajectory as a translator--highlighting how his choices in this area of his scholarship fit into a broader, multipronged approach to the study and diffusion of the language, culture, and…

Fred P. Ellison and Interamerican Imperatives

ERIC Educational Resources Information Center

Perrone, Charles A.

2016-01-01

This article briefly describes Fred P. Ellison's ground breaking contributions in Brazilian literary studies in North America. Further, his key role in the development of Brazilian Portuguese language instruction is highlighted, along with the numerous scholarly connections he made in the the field of Luso-Brazilian Studies.

FT-IR and FT-Raman spectra of cimetidine and its metallocomplexes

NASA Astrophysics Data System (ADS)

Barańska, M.; Proniewicz, L. M.

1999-11-01

We present vibrational spectra of three stable, well-reproducible, polymorphic forms of cimetidine ( cim), a drug which is a powerful histamine H 2-receptor antagonist used in the treatment of peptic ulcer and the Zollinger-Ellison syndrome. Assignments of Raman and IR bands are made using semiempirical methods: MNDO, AM1 and PM3. We also describe the synthesis of Me( cim) 2(ClO 4) 2, where Me=Cu(II), Cd(II), Co(II) and Ni(II), and present their vibrational data. We show that the obtained complexes are isostructural, however a metal ion that occupies a center of octahedral unit introduces some distortions that can be seen in the spectra. We also make tentative assignment of metal-ligand stretching modes observed in low frequency range.

Veliparib, Capecitabine, and Temozolomide in Patients With Advanced, Metastatic, and Recurrent Neuroendocrine Tumor

ClinicalTrials.gov

2017-09-26

Functional Pancreatic Neuroendocrine Tumor; Malignant Somatostatinoma; Merkel Cell Carcinoma; Metastatic Adrenal Gland Pheochromocytoma; Metastatic Carcinoid Tumor; Multiple Endocrine Neoplasia Type 1; Multiple Endocrine Neoplasia Type 2A; Multiple Endocrine Neoplasia Type 2B; Neuroendocrine Neoplasm; Non-Functional Pancreatic Neuroendocrine Tumor; Pancreatic Glucagonoma; Pancreatic Insulinoma; Recurrent Adrenal Cortex Carcinoma; Recurrent Adrenal Gland Pheochromocytoma; Recurrent Merkel Cell Carcinoma; Somatostatin-Producing Neuroendocrine Tumor; Stage III Adrenal Cortex Carcinoma; Stage III Thyroid Gland Medullary Carcinoma; Stage IIIA Merkel Cell Carcinoma; Stage IIIB Merkel Cell Carcinoma; Stage IV Adrenal Cortex Carcinoma; Stage IV Merkel Cell Carcinoma; Stage IVA Thyroid Gland Medullary Carcinoma; Stage IVB Thyroid Gland Medullary Carcinoma; Stage IVC Thyroid Gland Medullary Carcinoma; Thymic Carcinoid Tumor; VIP-Producing Neuroendocrine Tumor; Well Differentiated Adrenal Cortex Carcinoma; Zollinger Ellison Syndrome

Astronaut Ellison Onizuka eating with chopsticks on the middeck

NASA Technical Reports Server (NTRS)

1985-01-01

Mission specialist Ellison S. Onizuka is attempting to use chopsticks to eat his meal on the middeck of the Discovery during the STS 51-C mission. A food tray is floating on his lap and another is attached to the middeck lockers.

Experimental and calculated 1H, 13C, 15N NMR spectra of famotidine

NASA Astrophysics Data System (ADS)

Barańska, M.; Czarniecki, K.; Proniewicz, L. M.

2001-05-01

Famotidine, 3-[[[2-[(aminoiminomethyl)amino]-4-thiazolyl]methyl]thio]- N-(aminosulfonyl), is a histamine H 2-receptor blocker that has been used mainly for the treatment of peptic ulcers and the Zollinger-Ellison syndrome. Its NMR spectra in different solvents were reported earlier; however, detailed interpretation has not been done thus far. In this work, experimental 1H, 13C and 15N NMR spectra of famotidine dissolved in DMSO-d 6 are shown. The assignment of observed chemical shifts is based on quantum chemical calculation at the Hartree-Fock/6-31G ∗ level. The geometry optimization of the famotidine molecule with two internal hydrogen bonds, i.e. [N(3)-H(23)⋯N(9) and N(3)⋯H(34)-N(20)], is done by using the B3LYP method with the 6-31G ∗ basis set.

Clinical aspects of ECL-cell abnormalities.

PubMed Central

Hirschowitz, B. I.

1998-01-01

ECL cell hyperplasia results from hypergastrinemia, and in man this occurs due to achlorhydria in atrophic gastritis (pernicious anemia [PA]) and gastrinoma (Zollinger-Ellison syndrome [ZES]). Progression to neoplasia, i.e., ECL cell carcinoids (usually small, multicentric and non-functional), occurs in some five to 10 percent of patients with PA where they remain gastrin-dependent and reversible by normalization of serum gastrin by antrectomy. Even if untreated, the carcinoids are almost invariably benign and do not cause death. In ZES, ECL cell hyperplasia is progressive due to hypergastrinemia. However, carcinoids develop only in the MEN-I subtype but pose no additional threat of malignancy. A conservative approach is recommended for small multicentric carcinoids, and the tumors do not need removal. By contrast, single, large, non-gastrin-dependent carcinoids represent a different biological and clinical problem and are frequently malignant. PMID:10461361

Diagnosis and treatment of ECL cell tumors.

PubMed Central

Cadiot, G.; Cattan, D.; Mignon, M.

1998-01-01

The diagnosis of ECL-omas is easy to perform. In patients with Zollinger-Ellison syndrome (ZES), ECL-omas are almost always observed in the setting of multiple endocrine neoplasia type I. In patients without ZES, the first step is to discard non-gastrin-related sporadic ECL-omas whose prognosis is poor. By contrast, prognosis of ECL-omas in patients with ZES or chronic atrophic gastritis is good. Metastases are rare, and tumor-related deaths are exceptional. In both conditions, ECL-omas measuring less than 1 cm should be treated by endoscopic polypectomy and survey. Treatment modalities (surgery, endoscopic polypectomy) for larger tumors are still discussed. The impact of endoscopic ultrasonography on the therapeutic decision has not yet been evaluated. Considering the good prognosis of these tumors, aggressive surgery could be limited to selected patients. Multicentric studies should be undertaken to determine the best treatment modalities. PMID:10461362

In the Ellison Tradition: In/Visible Bodies of Adolescent and YA Fiction

ERIC Educational Resources Information Center

Stewart, Susan Louise

2009-01-01

When Ralph Ellison's "Invisible Man" was published in 1952, he could not have known the impact his metaphor of invisibility would have on adolescent and YA literature. However, upon closer inspection, the importance and prevalence of his metaphor becomes evident. Authors of adolescent and YA literature routinely use the metaphor as an intertextual…

Gastric neuroendocrine tumours.

PubMed

Crosby, David A; Donohoe, Claire L; Fitzgerald, Louise; Muldoon, Cian; Hayes, Brian; O'Toole, Dermot; Reynolds, John V

2012-01-01

Gastric neuroendocrine tumours (NETs) are increasingly recognised, and management decisions may be difficult due to an incomplete understanding of aetiology, natural history and optimum therapy. This article presents a current understanding based on recent advances in epidemiology, classification, molecular profiling, and treatment. Relevant medical literature was identified from searches of PubMed and references cited in appropriate articles identified. Selection of articles was based on peer review, journal and relevance. Gastric NETs may be divided into three clinical prognostic groups: type I is associated with autoimmune atrophic gastritis and hypergastrinaemia, type II is associated with Zollinger-Ellison syndrome, and type III lesions are gastrin-independent, have the greatest metastatic potential and poorest prognosis. There has been an increased frequency of gastric NETs reported. Management approaches have evolved in parallel with advances in endoscopic staging and surgery, as well as improved understanding of the biology and natural history of NETs. Gastric NETs present a spectrum of activity from indolent tumours to metastatic malignancy. Treatment decisions for patients must be individualised and are best managed by a multidisciplinary team approach. The current evidence base is limited to small series and efforts to treat patients within clinical networks of expertise are warranted. Copyright © 2012 S. Karger AG, Basel.

Somali Opposition to Government Education: R. E. Ellison and the Berbera School Affair, 1938-1940

ERIC Educational Resources Information Center

Olden, Anthony

2008-01-01

British Somaliland, a protectorate from which Christian missionaries were excluded, opened its first government-run school in 1938. The intention of the new director of education, Randall Ellison, was to use written Somali in preference to Arabic. This drew intense criticism from local religious leaders, and had to be abandoned. Accused of being a…

Review article: Pathogenesis and management of gastric carcinoid tumours.

PubMed

Burkitt, M D; Pritchard, D M

2006-11-01

Gastric carcinoid tumours are rare, but are increasing in incidence. To discuss tumour pathogenesis and outline current approaches to patient management. Review of published articles following a Pubmed search. Although interest in gastric carcinoids has increased since it was recognized that they are associated with achlorhydria, to date there is no definite evidence that humans taking long-term acid suppressing medication are at increased risk. Type I tumours are associated with autoimmune atrophic gastritis and hypergastrinaemia, type II are associated with Zollinger-Ellison syndrome, multiple endocrine neoplasia-1 and hypergastrinaemia and sporadic type III carcinoids are gastrin-independent and carry the worst prognosis. Careful investigation of these patients is required, particularly to identify the tumour type, the source of hypergastrinaemia and the presence of metastases. Treatment can be directed at the source of hypergastrinaemia if type I or II tumours are still gastrin responsive and not growing autonomously. Type III tumours should be treated surgically. Advances in our understanding of the pathogenesis of gastric carcinoids have led to recent improvements in investigation and management. Challenges remain in identifying the genetic and environmental factors, in addition to hypergastrinaemia, that are responsible for tumour development in susceptible patients.

Gastrointestinal Neuroendocrine Tumors: Pancreatic Endocrine Tumors

PubMed Central

Metz, David C.

2008-01-01

Pancreatic endocrine tumors (PETs) have long fascinated clinicians and investigators despite their relative rarity. Their clinical presentation varies depending upon whether the tumor is functional or not and also according to the specific hormonal syndrome produced. Tumors may be sporadic or inherited but little is known about their molecular pathology, especially the sporadic forms. Chromogranin A appears to be the most useful serum marker for diagnosis, staging and monitoring. Initially, therapy should be directed at the hormonal syndrome as this has the major initial impact on the patient's health. Most PETs are relatively indolent but ultimately malignant, except for insulinomas which are predominantly benign. Surgery is the only modality that offers the possibility of cure although it is generally noncurative in patients with Zollinger-Ellison syndrome or nonfunctional PETs with MEN1. Preoperative staging of disease extent is necessary to determine the likelihood of complete resection though debulking surgery is often felt to be useful in unresectable patients. Once metastatic, biotherapy is usually the first modality employed because it is generally well tolerated. Systemic or regional therapies are generally reserved until symptoms occur or tumor growth is rapid. Recently a number of newer agents, as well as receptor-directed radiotherapy, are being evalulated for patients with advanced disease. This review addresses a number of recent advances regarding the molecular pathology, diagnosis, localization and management of PETs including discussion of peptide receptor radionuclide therapy and other novel antitumor approaches. We conclude with a discussion of future directions and unsettled problems in the field. PMID:18703061

Endocrine tumors of the duodenum. A study of 55 cases relative to clinicopathological features and hormone content.

PubMed

Heymann, M F; Hamy, A; Triau, S; Miraillé, E; Toquet, C; Chomarat, H; Cohen, C; Maitre, F; Le Bodie, M F

2004-01-01

Study of prognosis of duodenal endocrine tumors. Retrospective study concerned 55 duodenal endocrine tumors discovered in biopsy or surgical specimens. Follow-up records available for 49 patients indicated that inconspicuous associated clinical manifestations were often found subsequently. Seven patients were classified as Zollinger-Ellison syndrome and seven as multiple endocrine neoplasia (6 MEN I and 1 MEN II). Tumors were small (mean 1.28cm) and located preferentially in the first and second part of the duodenum. Fifty-four were well-differentiated and one poorly differentiated. Immunochemistry revealed 30 G-cell tumors (54.6%), 15 D-cell (27.3%), two plurihormonal (EC cell and G cell), and one GRH-cell, whereas seven could not be classified. Fifteen patients died (five in relation to their disease). Twenty-one had metastases (liver, nodes, lung), eight of whom are still alive. Eighty-eight percent of duodenal endocrine tumors were gastrinomas, small plurifocal tumors and somatostatinomas preferentially located in the ampullar region and diagnosed because of hematemesis or icterus. Size is an important prognostic factor in determining whether surgery is required. The prognosis is better for D- and G-cell tumors than pancreatic endocrine tumors. Duodenal endocrine tumors in multiple endocrine neoplasia have a good prognosis, but can be associated with pancreatic plurihormonal tumors and metastases.

Working Group 2 Summary:. Space Charge Effects in Bending Systems

NASA Astrophysics Data System (ADS)

Bohn, Courtlandt L.; Emma, Paul J.

2000-12-01

Participants in Working Group 2 included: Y. Batygin, C. Bohn, B. Carlsten, J. Ellison, P. Emma, Z. Huang, A. Kabel, R. Kishek, R. Li, P. Musumeci, S. Nagaitsev, J. Qiang, M. Reiser, A. Ruggerio, R. Warnock, and M. Zeitlin.

Midlife Transition and Women's Spirituality Groups: A Preliminary Investigation

ERIC Educational Resources Information Center

Geertsma, Elisabeth J.; Cummings, Anne L.

2004-01-01

The purpose of this preliminary study was to describe midlife transition, spirituality, and healing of relationships for members of women's spirituality groups. Ten women completed the Spiritual Well-Being Scale (R. Paloutzian & C. Ellison, 1982) and a 45-minute interview about spirituality, religion, life transitions, relationships, and…

The group of epidermal nevus syndromes Part I. Well defined phenotypes.

PubMed

Happle, Rudolf

2010-07-01

The epidermal nevus syndromes represent a group of distinct disorders that can be distinguished by the type of associated epidermal nevus and by the criterion of presence or absence of heritability. Well defined syndromes characterized by organoid epidermal nevi include Schimmelpenning syndrome, phacomatosis pigmentokeratotica, nevus comedonicus syndrome, angora hair nevus syndrome, and Becker nevus syndrome. The molecular basis of these disorders has so far not been identified. By contrast, the group of syndromes characterized by keratinocytic nevi comprises three phenotypes with a known molecular etiology in the form of CHILD (congenital hemidysplasia with ichthyosiform nevus and limb defects) syndrome, type 2 segmental Cowden disease, and fibroblast growth factor receptor 3 epidermal nevus syndrome (García-Hafner-Happle syndrome), whereas Proteus syndrome is still of unknown origin. From this overview, it is clear that a specific type of these disorders cannot be classified by the name "epidermal nevus syndrome" nor by the terms "organoid nevus syndrome" or "keratinocytic nevus syndrome." After completing this learning activity, participants should be able to distinguish nine different epidermal nevus syndromes by their characteristic features, understand the practical significance of avoiding terms like "epidermal nevus syndrome" or "keratinocytic nevus syndrome" to define any specific entity within this group of disorders, and differentiate between nonhereditary traits and those bearing a genetic risk because of either Mendelian or non-Mendelian inheritance. Copyright (c) 2010 American Academy of Dermatology, Inc. Published by Mosby, Inc. All rights reserved.

Gastrinomas associated with MEN-1 syndrome: new insights for the diagnosis and management in a series of 11 patients.

PubMed

Nikou, George C; Toubanakis, Christos; Nikolaou, Panagiota; Giannatou, Eleanna; Marinou, Kiriakoula; Safioleas, Michael; Karamanolis, Dimitrios

2005-01-01

Approximately, 25-30% of patients (pts) have gastrinomas, (Zollinger-Ellison syndrome, ZES), as part of the inherited syndrome, multiple endocrine neoplasia 1 (MEN-1). The identification of MEN-1 syndrome in these pts is always important, as there are some differences in their management and prognosis. Among 33 pts with ZES, we present in this study 11 pts with ZES and MEN-1 syndrome, describing our diagnostic and therapeutic approach. Eleven pts with ZES and MEN-1 syndrome (6 females and 5 males) were included (mean age 51.8 years). The diagnosis of ZES was based upon: a) clinical features and b) high serum gastrin levels, while in 7/11 pts diagnosis was confirmed histopathologically. A variety of other gastrointestinal peptides, as well as the general neuroendocrine tumor marker, Chromogranin-A (CgA) were also estimated. All pts underwent conventional imaging methods (CT, MRI) and OCTREOSCAN or EUS when necessary, in order to localize the primary lesion or the metastases. The diagnosis of MEN-1 was based upon the presence of the other two MEN-1 related endocrinopathies (hyperparathyroidism, pituitary adenomas), revealed by estimation of several hormones (PTH, Prolactin, ACTH etc.) and performance of imaging studies of the pituitary and parathyroid glands. When MEN-1 syndrome was established, a familiar screening of pts was also performed, when possible. The mean duration of pts' follow-up was 6.1 years (range: 2.1-8.5 years). At the time of presentation, 91% pts, had symptoms of peptic ulcer disease, refractory to treatment, while a history of colicky abdominal pain due to nephrolithiasis was also reported by 45% pts. Four of our pts had a blood relation. Serum gastrin levels at the time of diagnosis were greater than 1000pg/mL in 63.5% pts, while at the same time serum CgA levels were greater than 10 times the upper normal limit (<98ng/mL) in all pts. OCTREOSCAN and EUS revealed the primary tumor (in duodenum or pancreas) in 64% pts, in whom conventional methods

Current Diagnosis and Management of Suspected Reflux Symptoms Refractory to Proton Pump Inhibitor Therapy

PubMed Central

2014-01-01

Suspected reflux symptoms that are refractory to proton pump inhibitors (PPIs) are rapidly becoming the most common presentation of gastroesophageal reflux disease (GERD) in patients seen in gastroenterology clinics. These patients are a heterogeneous group, differing in symptom frequency and severity, PPI dosing regimens, and responses to therapy (from partial to absent). Before testing, the physician needs to question the patient carefully about PPI compliance and the timing of drug intake in relation to meals. Switching PPIs or doubling the dose is the next step, but only 20% to 25% of the group refractory to PPIs will respond. The first diagnostic test should be upper gastrointestinal endoscopy. In more than 90% of cases, the results will be normal, but persistent esophagitis may suggest pill esophagitis, eosinophilic esophagitis, or rarer diseases, such as lichen planus, Zollinger-Ellison syndrome, or genotype variants of PPI metabolism. If the endoscopy results are normal, esophageal manometry and especially reflux testing should follow. Whether patients should be tested on or off PPI therapy is controversial. Most physicians prefer to test patients off PPIs to identify whether abnormal acid reflux is even present; if it is not, PPIs can be stopped and other diagnoses sought. Testing patients on PPI therapy allows nonacid reflux to be identified, but more than 50% of patients have a normal test result, leaving the clinician with a conundrum—whether to stop PPIs or continue them because the GERD is being treated adequately. Alternative diagnoses in patients with refractory GERD and normal reflux testing include achalasia, eosinophilic esophagitis, gastroparesis, rumination, and aerophagia. However, more than 50% will be given the diagnosis of functional heartburn, a visceral hypersensitivity syndrome. Treating patients with PPI-refractory GERD–like symptoms can be difficult and frustrating. Any of the following may help: a histamine-2 receptor antagonist

Occupational contact allergy to omeprazole and ranitidine.

PubMed

Herrera-Mozo, Inmaculada; Sanz-Gallen, Pere; Martí-Amengual, Gabriel

2017-05-16

Omeprazole is a proton pump inhibition and ranitidine is an H2 histamine receptor antagonist widely used in the treatment of gastroesophageal reflex disease, peptic ulcer disease, Zollinger-Ellison syndrome and as a protector of the gastric mucosae. We report a case of occupational contact allergy to omeprazole and ranitidine. A 48-year-old man, with no pre-existing history of atopy or lifestyle factors. He neither had any medical history of consumption of drugs such as ranitidine and omeprazole. He worked for 19 months in the pharmaceutical company that manufactured ranitidine base. He presented rash in the face and eczema on the dorsum of the hands with itching. The study by prick tests with ranitidine gave negative response. Patch testing with ranitidine base and ranitidine hydrochloride gave positive response. A month later, when the patient was asymptomatic he returned to the pharmaceutical company, being switched from this previous job to the reactor manufacturing omeprazole. A few days after that, he presented erythematous eruptions involving face and neck with itching. Prick tests, path tests and in vitro laboratories studies with omeprazole gave positives. In this case the patient presented hypersensitivity type I at omeprazole and hypersensitivity type IV at omeprazole and ranitidine. Our aportation indicates the importance of careful analysis of the occupational exposure histories of patients with the suspected type I or type IV hypersensitivity to allergens, to determine whether work exposure is the cause. Med Pr 2017;68(3):433-435. This work is available in Open Access model and licensed under a CC BY-NC 3.0 PL license.

Beyond the GIST: Mesenchymal Tumors of the Stomach

PubMed Central

Menias, Christine O.; Gaballah, Ayman H.; Shroff, Stuti; Taggart, Melissa W.; Garg, Naveen; Elsayes, Khaled M.

2013-01-01

Intramural gastric masses arise in the wall of the stomach (generally within the submucosa or muscularis propria), often with intact overlying mucosa. These tumors are typically mesenchymal in origin and have overlapping radiologic appearances. A combination of features such as location, attenuation, enhancement, and growth pattern may suggest one diagnosis over another. Gastrointestinal stromal tumors (GISTs) account for the majority of intramural tumors and can vary widely in appearance, from small intraluminal lesions to exophytic masses that protrude into the peritoneal cavity, commonly with areas of hemorrhage or necrosis. A well-circumscribed mass measuring −70 to −120 HU is a lipoma. Leiomyomas usually manifest as low-attenuation masses at the gastric cardia. Homogeneous attenuation is a noteworthy characteristic of schwannomas, particularly for larger lesions that might otherwise be mistaken for GISTs. A hypervascular mass in the antrum is a common manifestation of glomus tumors. Hemangiomas are also hypervascular but often manifest in childhood. Inflammatory fibroid polyps usually arise as a polypoid mass in the antrum. Inflammatory myofibroblastic tumors are infiltrative neoplasms with a propensity for local recurrence. Plexiform fibromyxomas are rare, usually antral tumors. Carcinoid tumors are epithelial in origin, but often submucosal in location, and therefore should be distinguished from other intramural lesions. Multiple carcinoid tumors are associated with hypergastrinemia, either in the setting of chronic atrophic gastritis or Zollinger-Ellison syndrome. Sporadic solitary carcinoid tumors not associated with hypergastrinemia have a higher rate of metastasis. Histopathologic analysis, including immunohistochemistry, is usually required for diagnosis of intramural masses. © RSNA, 2013 PMID:24108557

Possible Primary Lymph Node Gastrinoma: Occurrence, Natural History, and Predictive Factors

PubMed Central

Norton, Jeffrey A.; Alexander, H. Richard; Fraker, Douglas L.; Venzon, David J.; Gibril, Fathia; Jensen, Robert T.

2003-01-01

Objective To analyze the results of a prospective study of 176 patients with Zollinger-Ellison syndrome (ZES) (138 sporadic, 38 MEN1) undergoing 207 operations over a 17-year period. Summary Background Data The existence of lymph node (LN) primary gastrinoma causing ZES is controversial. Methods Three groups of patients were compared: LN only resected, cured, and no relapse (likely LN primary); same criteria but relapse (unlikely LN primary); and duodenal primary and LN metastases (Duo-LN). Results Forty-five (26%) had only LN(s) as the initial tumor found. Twenty-six of the 45 (58%) fit the definition of a likely LN primary because they were apparently cured postresection. At 10.4 ± 1.2 years, 69% of the 26 patients with likely LN primary tumors have remained cured and have LN primaries. In the 8 of 26 with recurrent ZES, it occurred at 5 ± 1 years, and 3 had duodenal gastrinoma that had been missed. Ten percent (13/138) of all patients with sporadic ZES and 0% (0/38) with ZES and MEN1 remained cured with only a LN tumor removed. In patients with sporadic gastrinomas no clinical, laboratory, or radiographic localization feature differed among patients with likely LN primary (n = 16) and those with unlikely LN primary (n = 6) or those with Duo-LN (n = 37). In the likely LN primary group, the largest LN was 2.2 ± 0.2 cm, the number of LNs removed was 1.3 ± 0.1 (25% ≥1 LN), and 78% were in the gastrinoma triangle, which also did not differ from the other 2 groups. Disease-free survival was similar in the likely LN primary group, patients with Duo-LN, and those with pancreatic primaries. Conclusions These results support the conclusion that primary LN gastrinomas occur and are not rare (approximately 10% of sporadic cases). These results suggest that a proportion (25%) of these tumors are either multiple or malignant. Because no clinical, laboratory, or tumoral characteristic distinguishes patients with LN primary tumors, all patients with ZES undergoing surgery

Determinants of surgical resection for pancreatic neuroendocrine tumors.

PubMed

Doi, Ryuichiro

2015-08-01

Pancreatic neuroendocrine tumors (pNETs) include functioning and non-functional tumors. Functioning tumors consist of tumors that produce a variety of hormones and their clinical effects. Therefore, determinants of resection of pNETs should be discussed for each group of tumors. Less than 10% of insulinomas are malignant, therefore more than 90% of the cases can be cured by surgical resection. Lymphadenectomy is generally not necessary in insulinoma operation. If preoperative localization of the insulinoma is completed, enucleation from the pancreatic body or tail, and distal pancreatectomy can be performed safely by laparoscopy. When preoperative localization of a sporadic insulinoma is not confirmed, surgical exploration is needed. Intraoperative localization of a tumor, intraoperative insulin sampling and frozen section are required. The crucial purpose of surgical resection is to control inappropriate insulin secretion by removing all insulinomas. Gastrinomas are usually located in the duodenum or pancreas, which secrete gastrin and cause Zollinger-Ellison syndrome (ZES). Duodenal gastrinomas are usually small, therefore they are not seen on preoperative imaging studies or endoscopic ultrasound, and can be found only at surgery if a duodenotomy is performed. In addition, lymph node metastasis is found in 40-60% of cases. Therefore, the experienced surgeons should direct operation for gastrinomas. Surgical exploration with duodenotomy should be performed at a laparotomy. Other functioning pNETs can occur in the pancreas or in other locations. Curative resection is always recommended whenever possible after optimal symptomatic control of the clinical syndrome by medical treatment. Indications for surgery depend on clinical symptom control, tumor size, location, extent, malignancy and presence of metastasis. A lot of non-functioning pNETs are found incidentally according to the quality improvement of imaging techniques. Localized, small, malignant non

Group B Streptococcal Toxic Shock Syndrome and covR/S Mutations Revisited.

PubMed

Sendi, Parham; El Hay, Muad Abd; Brandt, Claudia M; Spellerberg, Barbara

2017-01-01

Gene mutations in the virulence regulator CovR/S of group A Streptococcus play a substantial role in the pathogenesis of streptococcal toxic shock syndrome. We screened 25 group B Streptococcus (GBS) isolates obtained from patients with streptococcal toxic shock syndrome and found only 1 GBS clone harboring this kind of mutation.

Group B Streptococcal Toxic Shock Syndrome and covR/S Mutations Revisited

PubMed Central

Sendi, Parham; el Hay, Muad Abd; Brandt, Claudia M.

2017-01-01

Gene mutations in the virulence regulator CovR/S of group A Streptococcus play a substantial role in the pathogenesis of streptococcal toxic shock syndrome. We screened 25 group B Streptococcus (GBS) isolates obtained from patients with streptococcal toxic shock syndrome and found only 1 GBS clone harboring this kind of mutation. PMID:27983484

Surgery Increases Survival in Patients With Gastrinoma

PubMed Central

Norton, Jeffrey A.; Fraker, Douglas L.; Alexander, H R.; Gibril, Fathia; Liewehr, David J.; Venzon, David J.; Jensen, Robert T.

2006-01-01

Objective: To determine whether the routine use of surgical exploration for gastrinoma resection/cure in 160 patients with Zollinger-Ellison syndrome (ZES) altered survival compared with 35 ZES patients who did not undergo surgery. Summary Background Data: The role of routine surgical exploration for resection/cure in patients with ZES has been controversial since the original description of this disease in 1955. This controversy continues today, not only because medical therapy for acid hypersecretion is so effective, but also in large part because no studies have shown an effect of tumor resection on survival. Methods: Long-term follow-up of 160 ZES patients who underwent routine surgery for gastrinoma/resection/cure was compared with 35 patients who had similar disease but did not undergo surgery for a variety of reasons. All patients had preoperative CT, MRI, ultrasound; if unclear, angiography and somatostatin receptor scintigraphy since 1994 to determine resectability. At surgery, all had the same standard ZES operation. All patients were evaluated yearly with imaging studies and disease activity studies. Results: The 35 nonsurgical patients did not differ from the 160 operated in clinical, laboratory, or tumor imaging results. The 2 groups did not differ in follow-up time since initial evaluation (range, 11.8–12 years). At surgery, 94% had a tumor removed, 51% were cured immediately, and 41% at last follow-up. Significantly more unoperated patients developed liver metastases (29% vs. 5%, P = 0.0002), died of any cause (54 vs. 21%, P = 0.0002), or died a disease-related death (23 vs. 1%, P < 0.00001). Survival plots showed operated patients had a better disease-related survival (P = 0.0012); however, there was no difference in non-disease-related survival. Fifteen-year disease-related survival was 98% for operated and 74% for unoperated (P = 0.0002). Conclusions: These results demonstrate that routine surgical exploration increases survival in patients with

Professional Support of Self-Help Groups: A Support Group Project for Chronic Fatigue Syndrome Patients.

ERIC Educational Resources Information Center

Carlsen, Benedicte

2003-01-01

Study follows a collaborative support group project between a team of health professionals and a Chronic Fatigue Syndrome patients' group. While advantageous for professionals to decide upon the aim of a joint intervention in dialogue with participants, simply asking participants what their aims are does not guarantee actual agreement. Case study…

Rubinstein-Taybi syndrome predisposing to non-WNT, non-SHH, group 3 medulloblastoma.

PubMed

Bourdeaut, Franck; Miquel, Catherine; Richer, Wilfrid; Grill, Jacques; Zerah, Michel; Grison, Camille; Pierron, Gaelle; Amiel, Jeanne; Krucker, Clementine; Radvanyi, Francois; Brugieres, Laurence; Delattre, Olivier

2014-02-01

Medulloblastomas (MB) are classified in four subgroups: the well defined WNT and Sonic Hedgehog (SHH) subgroups, and the less defined groups 3 and 4. They occasionally occur in the context of a cancer predisposition syndrome. While germline APC mutations predispose to WNT MB, germline mutations in SUFU, PTCH1, and TP53 predispose to SHH tumors. We report on a child with a Rubinstein-Taybi syndrome (RTS) due to a germline deletion in CREBBP, who developed a MB. Biological profilings demonstrate that this tumor belongs to the group 3. RTS may therefore be the first predisposition syndrome identified for non-WNT/non-SHH MB. © 2013 Wiley Periodicals, Inc.

Using novel control groups to dissect the amygdala's role in Williams syndrome.

PubMed

Thornton-Wells, Tricia A; Avery, Suzanne N; Blackford, Jennifer Urbano

2011-07-01

Williams syndrome is a neurodevelopmental disorder with an intriguing behavioral phenotype-hypersociability combined with significant non-social fears. Previous studies have demonstrated abnormalities in amygdala function in individuals with Williams syndrome compared to typically-developing controls. However, it remains unclear whether the findings are related to the atypical neurodevelopment of Williams syndrome, or are also associated with behavioral traits at the extreme end of a normal continuum. We used functional magnetic resonance imaging (fMRI) to compare amygdala blood-oxygenation-level-dependent (BOLD) responses to non-social and social images in individuals with Williams syndrome compared to either individuals with inhibited temperament (high non-social fear) or individuals with uninhibited temperament (high sociability). Individuals with Williams syndrome had larger amygdala BOLD responses when viewing the non-social fear images than the inhibited temperament control group. In contrast, when viewing both fear and neutral social images, individuals with Williams syndrome did not show smaller amygdala BOLD responses relative to the uninhibited temperament control group, but instead had amygdala responses proportionate to their sociability. These results suggest heightened amygdala response to non-social fear images is characteristic of WS, whereas, variability in amygdala response to social fear images is proportionate to, and might be explained by, levels of trait sociability.

Streptococcal Toxic Shock Syndrome Caused by Group G Streptococcus, United Kingdom.

PubMed

Baxter, Melissa; Morgan, Marina

2017-01-01

We describe successful management of 3 patients with streptococcal toxic shock syndrome (STSS) attributable to group G Streptococcus infection. This small series supports recognition of group G Streptococcus in the etiology of STSS. We propose intravenous immunoglobulin be used in treatment as it is for STSS caused by group A Streptococcus.

Severe group A streptococcal infection and streptococcal toxic shock syndrome.

PubMed

Baxter, F; McChesney, J

2000-11-01

To review the literature on group A streptococcal toxic shock syndrome, (STSS). Medline and EMBASE searches were conducted using the key words group A streptococcal toxic shock syndrome, alone and in combination with anesthesia; and septic shock, combined with anesthesia. Medline was also searched using key words intravenous immunoglobulin, (IVIG) and group A streptococcus, (GAS); and group A streptococcus and antibiotic therapy. Other references were included in this review if they addressed the history, microbiology, pathophysiology, incidence, mortality, presentation and management of invasive GAS infections. Relevant references from the papers reviewed were also considered. Articles on the foregoing topics were included regardless of study design. Non-English language studies were excluded. Literature on the efficacy of IVIG and optimal antibiotic therapy was specifically searched. Reports of invasive GAS infections have recently increased. Invasive GAS infection is associated with a toxic shock syndrome, (STSS), in 8-14% of cases. The STSS characteristically results in shock and multi-organ failure soon after the onset of symptoms, and is associated with a mortality of 33-81%. Many of these patients will require extensive soft tissue debridement or amputation in the operating room, on an emergency basis. The extent of tissue debridement required is often underestimated before skin incision. Management of STSS requires volume resuscitation, vasopressor/inotrope infusion, antibiotic therapy and supportive care in an intensive care unit, usually including mechanical ventilation. Intravenous immunoglobulin infusion has been recommended. Further studies are needed to define the role of IVIG in STSS management and to determine optimal anesthetic management of patients with septic shock.

Management of gastric and duodenal neuroendocrine tumors

PubMed Central

Sato, Yuichi; Hashimoto, Satoru; Mizuno, Ken-ichi; Takeuchi, Manabu; Terai, Shuji

2016-01-01

Gastrointestinal neuroendocrine tumors (GI-NETs) are rare neoplasms, like all NETs. However, the incidence of GI-NETS has been increasing in recent years. Gastric NETs (G-NETs) and duodenal NETs (D-NETs) are the common types of upper GI-NETs based on tumor location. G-NETs are classified into three distinct subgroups: type I, II, and III. Type I G-NETs, which are the most common subtype (70%-80% of all G-NETs), are associated with chronic atrophic gastritis, including autoimmune gastritis and Helicobacter pylori associated atrophic gastritis. Type II G-NETs (5%-6%) are associated with multiple endocrine neoplasia type 1 and Zollinger-Ellison syndrome (MEN1-ZES). Both type I and II G-NETs are related to hypergastrinemia, are small in size, occur in multiple numbers, and are generally benign. In contrast, type III G-NETs (10%-15%) are not associated with hypergastrinemia, are large-sized single tumors, and are usually malignant. Therefore, surgical resection and chemotherapy are generally necessary for type III G-NETs, while endoscopic resection and follow-up, which are acceptable for the treatment of most type I and II G-NETs, are only acceptable for small and well differentiated type III G-NETs. D-NETs include gastrinomas (50%-60%), somatostatin-producing tumors (15%), nonfunctional serotonin-containing tumors (20%), poorly differentiated neuroendocrine carcinomas (< 3%), and gangliocytic paragangliomas (< 2%). Most D-NETs are located in the first or second part of the duodenum, with 20% occurring in the periampullary region. Therapy for D-NETs is based on tumor size, location, histological grade, stage, and tumor type. While endoscopic resection may be considered for small nonfunctional D-NETs (G1) located in the higher papilla region, surgical resection is necessary for most other D-NETs. However, there is no consensus regarding the ideal treatment of D-NETs. PMID:27570419

Munchausen Syndrome Masquerading as Bleeding Disorder in a Group of Pediatric Patients

PubMed Central

Sridharan, Srivani; Shukla, Deepak; Mehta, Ritambhara; Oswal, Rajat

2011-01-01

This short communication is about Munchausen's syndrome in a group of pediatric patients and co morbid Munchausen's syndrome by proxy. A 7-year-old girl presented with spontaneous bleeding from forehead, eyes and scalp. The girl was investigated thoroughly by pediatricians at a tertiary care hospital in western India for all possible bleeding disorders, but there was no conclusive diagnosis. After two days, cases with similar complaints were reported among children residing in the same locality and with similar socioeconomic background. All of them were investigated in detail for possible causes of bleeding but nothing came out. There was a media reporting of the cases as a mysterious bleeding disorder. At this point of time, an expert opinion from the psychiatrist was demanded. Covert video surveillance and series of interviews revealed Munchausen's syndrome and possible Munchausen's syndrome by proxy. An in-depth literature review with special reference to Munchausen's syndrome was carried out to come to a final conclusive diagnosis. PMID:22021962

Munchausen syndrome masquerading as bleeding disorder in a group of pediatric patients.

PubMed

Sridharan, Srivani; Shukla, Deepak; Mehta, Ritambhara; Oswal, Rajat

2011-01-01

This short communication is about Munchausen's syndrome in a group of pediatric patients and co morbid Munchausen's syndrome by proxy. A 7-year-old girl presented with spontaneous bleeding from forehead, eyes and scalp. The girl was investigated thoroughly by pediatricians at a tertiary care hospital in western India for all possible bleeding disorders, but there was no conclusive diagnosis. After two days, cases with similar complaints were reported among children residing in the same locality and with similar socioeconomic background. All of them were investigated in detail for possible causes of bleeding but nothing came out. There was a media reporting of the cases as a mysterious bleeding disorder. At this point of time, an expert opinion from the psychiatrist was demanded. Covert video surveillance and series of interviews revealed Munchausen's syndrome and possible Munchausen's syndrome by proxy. An in-depth literature review with special reference to Munchausen's syndrome was carried out to come to a final conclusive diagnosis.

[Invasive infection caused Streptococcus group A and streptococcal toxic shock syndrome].

PubMed

Danilova, T A

2001-01-01

Modern data on the etiology and pathogenesis of invasive streptococcal infection and the syndrome of streptococcal toxic shock are presented. In the course of the last 10-15 years essential changes in the system of interaction of group A streptococci and the macroorganism have been noted. The growth of morbidity in severe invasive forms of streptococcal infection with different clinical manifestations, including the syndrome of toxic shock, is observed. Most often this disease develops in elderly people, making up a group of risk, but sometimes affects healthy young people. Different pathogenicity factors of streptococci, capable of inducing the development of infection, are analyzed. Special attention is given to superantigens: pyrogenic toxins and M-protein. The suggestion that the development of the disease is seemingly linked with the state of specific protective immunity is substantiated. In spite of achievements in the field of the microbiology and immunology of group A streptococci, the causes of the appearance and development of invasive streptococcal infection have not yet been determined.

Prevalence of rheumatic regional pain syndromes in Latin-American indigenous groups: a census study based on COPCORD methodology and syndrome-specific diagnostic criteria.

PubMed

Alvarez-Nemegyei, José; Peláez-Ballestas, Ingris; Goñi, Mario; Julián-Santiago, Flor; García-García, Conrado; Quintana, Rosana; Silvestre, Adriana M R; García-Olivera, Imelda; Mathern, Nora A; Loyola-Sanchez, Adalberto; Conti, Silvana; Sanabria, Alvaro J; Pons-Estel, Bernardo A

2016-07-01

This study assessed the overall and specific prevalence of the main rheumatic regional pain syndromes (RRPS) in four Latin-American indigenous groups. A Community Oriented Program for Control of Rheumatic Diseases (COPCORD) methodology-based census study was performed in 4240 adults (participation rate: 78.88 %) in four indigenous groups: Chontal (Oaxaca, Mexico, n = 124), Mixteco (Oaxaca, Mexico; n = 937), Maya-Yucateco (Yucatán, Mexico; n = 1523), and Qom (Rosario, Argentina; n = 1656). Subjects with musculoskeletal pain were identified using a cross-cultural, validated COPCORD questionnaire administered by bilingual personnel, and reviewed by general practitioners or rheumatologists using standardized case definitions for the 12 most frequent RRPS. The overall prevalence of RRPS was confirmed in 239 cases (5.64 %, 95 % CI: 4.98-6.37). The prevalence in each group was Chontal n = 19 (15.32 %, 95 % CI: 10.03-22.69); Maya-Yucateco n = 165 (10.83 %, 95 % CI: 9.37-12.49); Qom n = 48 (2.90 %, 95 % CI: 2.19-3.82); and Mixteco n = 7 (0.75 %, 95 % CI: 0.36-1.53). In the whole sample, the syndrome-specific prevalence was rotator cuff tendinopathy: 1.98 % (95 % CI: 1.60-2.45); lateral epicondylalgia: 0.83 % (95 % CI: 0.59-1.15); medial epicondylalgia: 0.73 % (95 % CI: 0.52-1.04); biceps tendinopathy: 0.71 % (95 % CI: 0.50-1.01); anserine syndrome: 0.64 % (95 % CI: 0.44-0.92); inferior heel pain: 0.61 % (95 % CI: 0.42-0.90); trochanteric syndrome: 0.49 % (95 % CI: 0.25-0.64); de Quervain's tendinopathy: 0.45 % (95 % CI: 0.29-0.70); trigger finger: 0.42 % (95 % CI: 0.27-0.67); carpal tunnel syndrome: 0.28 % (95 % CI: 0.16-0.49); Achilles tendinopathy (insertional): 0.12 % (95 % CI: 0.05-0.28); and Achilles tendinopathy (non-insertional): 0.07 % (95 % CI: 0.02-0.21). Leaving aside the comparison between Maya-Yucateco and Chontal groups (p = 0.18), we found significant differences (p < 0.001) in

Schizophrenia and organic brain syndrome with trisomy 8 (group-C trisomy 8 [47, XX, 8+]).

PubMed

Sperber, M A

1975-02-01

A supernumerary autosomal syndrome in the C group of submetacentric autosomes has not yet been delineated phenotypically, although cases of an extra C-group autosome have been reported. Recent technical advances (fluorescence and Giemsa banding) now permit positive identification of each autosome. The present case reports the presence of schizophrenia and organic brain syndrome in association with trisomy 8. It is the sixth case of trisomy 8 reported to date. A stress-diathesis model is used to explain the development of the psychiatric disturbances. The patient's autosomal aberration is regarded as diathetic, and the multiple congenital anomalies, surgical interventions, infections, familial, and other environmental responses as stress. This report provides further data for the phenotypic delineation of a trisomy 8 syndrome.

Prevalence of the Metabolic Syndrome among Korean Workers by Occupational Group: Fifth Korean National Health and Nutrition Examination Survey (KNHANES) 2010

PubMed Central

2013-01-01

Objectives The prevalence of the metabolic syndrome has increased rapidly in South Korea over the past 10 years. However, the occurrence of the metabolic syndrome in workers grouped according to the specific type of work is not well understood in Korea. In this study, we assessed the differences in the prevalence of the metabolic syndrome by occupational group and evaluated the risk of the metabolic syndrome among occupational groups. Methods From the Fifth Korean National Health and Nutrition Examination Survey (2010), 3,303 employed participants were included in this study. The unadjusted and age-adjusted prevalences of the metabolic syndrome were estimated and multiple logistic regression analysis was conducted using the presence of the metabolic syndrome as a dependent variable, and adjusting for age, education level, household income, drinking behavior, smoking status, physical activity, work hours, and work scheduling pattern. Results Among male workers, non-manual workers had the greatest age-adjusted prevalence (26.4%, 95% CI: 22.3-30.5%) among the occupational groups. In a logistic regression analysis, male manual workers had a significantly lower odds ratio for the metabolic syndrome relative to non-manual workers (0.59, 95% CI: 0.41-0.85). Conclusion Our study demonstrated differences in the prevalence of the metabolic syndrome by occupational group and identified the greatest risk for the metabolic syndrome in male non-manual workers. PMID:24472422

A Group Counseling and Educational Program for Students with Usher's Syndrome.

ERIC Educational Resources Information Center

Vernon, McCay; Hicks, Wanda

1983-01-01

Group counseling for secondary students with Usher's syndrome, a genetic condition resulting in hearing impairment at birth and gradual loss of vision, was intended to provide information and opportunities for expression. Results included practical changes in school environment, increased information about deaf-blindness for the students, and help…

ABO-Rh blood groups distribution in cardiac syndrome X patients.

PubMed

Kheradmand, Fatemeh; Rasmi, Yousef; Nemati, Mohaddeseh; Mohammadzad, Mir Hossein Seyed

2012-07-01

Data on frequency distribution of ABO-Rh blood groups in cardiac syndrome X (CSX) patients are not available. We aimed to investigate the distribution of ABO-Rh blood groups in these patients. A total of 247 CSX patients' records were reviewed in a cross-sectional study from 2006 to 2010. One hundred forty six patients (59.1%) were female, and the mean patient age was 52 ± 11 years. The frequency of ABO-Rh blood groups was compared to the frequency of these blood groups in the West-Azerbaijan province, Iran; general population. Blood groups distribution among CSX patients showed phenotypes A, B, AB, O and Rh negative as 33.1%, 21.9%, 9.3%, 35.8%, and 7.9%, respectively. According to our results, there were no differences in ABO-Rh blood groups distribution between CSX patients and normal population. These data suggest that ABO-Rh blood groups might be unassociated with CSX.

Prospective Study of Surgery for Primary Hyperparathyroidism (HPT) in Multiple Endocrine Neoplasia-type 1 (MEN1), and Zollinger-Ellison syndrome (ZES): Long-term Outcome of a More Virulent form of HPT

PubMed Central

Norton, JA; Venzon, DJ; Berna, MJ; Alexander, HR; Frake, DL; Libutti, SK; Marx, SJ; Gibril, F; Jensen, RT

2009-01-01

Background HPT in MEN1 patients with ZES is caused by parathyroid hyperplasia. Surgery for parathyroid hyperplasia is tricky and difficult. Long-term outcome in ZES/MEN1 /HPT is not well known. Methods 84 consecutive patients (49 F/35 M) with ZES/MEN1 /HPT underwent intial parathyroidectomy (PTX) and were followed at 1−3 yr intervals. Results Age at PTX was 36±2 yrs. Mean follow-up was 17±1 yrs. Prior to PTX, mean Ca=2.8 mmol/L (nl<2.5), PTHi=243 pg/ml (nl <65), and gastrin=6950 pg/ml (nl <100). 61% had nephrolithiasis. Each patient had parathyroid hyperplasia. 58% of patients had four parathyroid glands identified. 9/84 (11%) had 4 glands removed with immediate autograft, 40/84 (47%) 3−3.5 glands, while 35/84 (42%) <3 glands.removed. Persistent/recurrent HPT occurred in 42%/48% of patients with <3 glands, 12%/44% with 3−3.5 glands, and 0%/55% with 4 glands removed. Hypoparathyroidism occurred in 3%, 10% and 22%, respectively. The disease-free interval following surgery was significantly longer if >3 glands were removed. After surgery to correct the HPT, each biochemical parameter of ZES was improved and 20% of patients no longer had laboratory evidence of ZES. Conclusions HPT /MEN1/ZES is a severe form of parathyroid hyperplasia with a high rate of nephrolithiasis, persistent and recurrent HPT. Surgery to correct the hypercalcemia significantly ameliorates the ZES. Removal of less than 3 and ½ glands has an unacceptably high incidence of persistent HPT (42%), while 4 gland resection and transplant has an high rate of permanent hypoparathyroidism (22%). >3gland resection has a longer disease-free interval. 3 and ½ gland parathyroidectomy is the surgical procedure of choice for patients with HPT/MEN1/ ZES. Careful long-term follow-up is mandatory as a significant proportion will develop recurrent HPT. PMID:18376196

Therapeutic intent of proton pump inhibitor prescription among elderly nonsteroidal anti-inflammatory drug users.

PubMed

Dries, A M; Richardson, P; Cavazos, J; Abraham, N S

2009-09-15

Prescription of proton pump inhibitors (PPIs) has increased dramatically. To assess therapeutic intent of PPI prescription among elderly veterans prescribed nonsteroidal anti-inflammatory drugs. Medical-record abstraction identified therapeutic intent of PPI prescription. An 'appropriate therapeutic intent' was defined as symptomatic gastro-oesophageal reflux disease or endoscopic oesophagitis, Zollinger-Ellison disease, dyspepsia, upper gastrointestinal event, Helicobacter pylori infection or nonsteroidal anti-inflammatory drug gastroprotection. Logistic regression predicted the outcome while adjusting for clinical characteristics. Of 1491 patients [mean 73 years (s.d. 5.6), 73% white and 99.8% men], among those charts which did document a therapeutic indication, 88.8% were appropriate. Prior gastroscopy was predictive of an appropriate therapeutic intent (OR 2.7; 95% CI: 1.9-3.7). Prescription to patients who used VA pharmacy services only, to in-patients, or by a cardiologist or an otolaryngologist were less likely to be appropriate. Gastroprotection was poorly recognized as an indication for PPI prescription, except by rheumatologists (OR 46.7; 95% CI: 15.9-136.9), or among highly co-morbid patients (OR 1.8; 95% CI: 1.1-2.9). Among in-patients, 45% of PPI prescriptions were initiated for unknown or inappropriate reasons. Type of provider predicts appropriate PPI use. In-patient prescription is associated with poor recognition of necessary gastroprotection and unknown therapeutic intent.

Care of girls and women with Turner syndrome: a guideline of the Turner Syndrome Study Group.

PubMed

Bondy, Carolyn A

2007-01-01

The objective of this work is to provide updated guidelines for the evaluation and treatment of girls and women with Turner syndrome (TS). The Turner Syndrome Consensus Study Group is a multidisciplinary panel of experts with relevant clinical and research experience with TS that met in Bethesda, Maryland, April 2006. The meeting was supported by the National Institute of Child Health and unrestricted educational grants from pharmaceutical companies. The study group used peer-reviewed published information to form its principal recommendations. Expert opinion was used where good evidence was lacking. The study group met for 3 d to discuss key issues. Breakout groups focused on genetic, cardiological, auxological, psychological, gynecological, and general medical concerns and drafted recommendations for presentation to the whole group. Draft reports were available for additional comment on the meeting web site. Synthesis of the section reports and final revisions were reviewed by e-mail and approved by whole-group consensus. We suggest that parents receiving a prenatal diagnosis of TS be advised of the broad phenotypic spectrum and the good quality of life observed in TS in recent years. We recommend that magnetic resonance angiography be used in addition to echocardiography to evaluate the cardiovascular system and suggest that patients with defined cardiovascular defects be cautioned in regard to pregnancy and certain types of exercise. We recommend that puberty should not be delayed to promote statural growth. We suggest a comprehensive educational evaluation in early childhood to identify potential attention-deficit or nonverbal learning disorders. We suggest that caregivers address the prospect of premature ovarian failure in an open and sensitive manner and emphasize the critical importance of estrogen treatment for feminization and for bone health during the adult years. All individuals with TS require continued monitoring of hearing and thyroid function

Group cognitive behaviour therapy for adults with Asperger syndrome and anxiety or mood disorder: a case series.

PubMed

Weiss, Jonathan A; Lunsky, Yona

2010-01-01

Individuals with Asperger syndrome are at increased risk for mental health problems compared with the general population, especially with regard to mood and anxiety disorders. Generic mental health services are often ill-equipped to offer psychotherapeutic treatments to this population, and specialized supports are difficult to find. This case series used a manualized cognitive behaviour therapy group programme (Mind Over Mood) with three adults diagnosed with Asperger syndrome, who were each unable to access psychotherapy through mainstream mental health services. This review highlights the benefits of a cognitive behaviour therapy (CBT) group approach for adults with Asperger syndrome and suggests some potential modifications to traditional CBT provision.  © 2010 John Wiley & Sons, Ltd.

[An rare complication of scarlet fever : invasive group A streptococcal infection with streptococcal toxic shock syndrome].

PubMed

Warnier, H; Depuis, Z; Nyamugabo, K; Desprechins, B; Seghaye, M-C

2017-03-01

Invasive Group A Streptococcus infections and streptococcal toxic shock syndrome are rare complications of common diseases in children such as scarlet fever or impetigo. These invasive diseases are particulary challenging because of their rapid progression and the lack of predisposing factors in most cases. Prompt diagnosis and treatment are mandatory to reduce the mortality associated with these severe diseases. We report the case of an 8- year-old girl who developped an invasive group A streptococcal disease with osteomyelitis and streptococcal toxic shock syndrome in the course of a classical scarlet fever.

MRI of normal and abnormal duodenum using Half-Fourier Single-Shot RARE and gadolinium-enhanced spoiled gradient echo sequences.

PubMed

Marcos, H B; Semelka, R C; Noone, T C; Woosley, J T; Lee, J K

1999-07-01

The objective of this research was two-fold: First, to describe the normal and abnormal MR appearances of the duodenum using combined Half-Fourier Acquisition Single Shot RARE (HASTE) and gadolinium-enhanced standard and fat suppressed spoiled gradient echo (SGE) sequences. The second objective was to assess the ability of these combined sequences to detect and characterize duodenal diseases. MR examinations were performed on fifty consecutive patients with no clinical history of duodenal diseases, who were 1) imaged with HASTE and gadolinium-enhanced standard and fat suppressed SGE sequences and 2) referred to MR examination for reasons other than duodenal diseases, and were reviewed retrospectively to determine the normal MR appearances of the duodenum. A second population of patients with abnormal duodenum who were imaged with the same MR sequences were included in the second part of this study. This population was composed of 20 consecutive patients with subsequently proven duodenal abnormalities, including: malrotation (2), diverticula (4), intussusception (1), sprue (1), polyps (2), neurofibroma (1), lymphoma (1), Zollinger Ellison syndrome (1), metastatic disease (1), Crohn's disease (1), and wall thickening and duodenitis (5). Normal measurements of the duodenum are described. Abnormalities of wall thickness and duodenal masses required combined HASTE and gadolinium-enhanced SGE images to evaluate well. Abnormalities of the bowel lumen (e.g., diverticula and intussusception), and developmental variants (e.g., malrotation), were sufficiently visualized on HASTE images alone. Bowel inflammation was best shown on gadolinium-enhanced fat suppressed SGE images. HASTE and gadolinium-enhanced fat suppressed SGE sequences are complementary techniques for the demonstration of normal and abnormal duodenum. The combined use of both sequences allows evaluation of different aspects of bowel diseases; abnormalities of position, lumen, and contents are well shown on HASTE

A modified technique for esophagojejunostomy or esophagogastrostomy after laparoscopic gastrectomy.

PubMed

Chong-Wei, Ke; Dan-Lei, Chen; Dan, Ding

2013-06-01

Reconstruction of the digestive tract involving esophageal anastomosis after laparoscopic gastrectomy is a surgically difficult procedure. In this study, a newly developed transoral pretilted circular anvil, a "the oral to the abdomen" method, was proven to be effective. A total of 34 consecutive patients underwent esophageal anastomosis using the OrVil in our hospital from July 2009 to February 2011. The esophagus was transected and a small hole was then made in the esophageal stump through which the nasogastric tube of the OrVil was passed to insert the anvil into the abdominal cavity. After fixation with a stapler and a glove at the jejunal loop or the remnant stomach, the abdominal cavity was entered through the minilaparotomy. Pneumoperitoneum and airtightness were reestablished after the glove edge was turned over to seal off the protector. Eventually, intracorporeal esophagojejunostomy or esophagogastrostomy was accomplished under the guidance of laparoscopy. There were 34 patients in the study: 1 with Zollinger-Ellison syndrome, 7 with stromal tumors in cardia, 23 with adenocarcinoma in the stomach, and 3 with cardia adenocarcinoma involving the lower esophagus. The surgical margins for all tumor patients were negative for tumor cells. The mean operative time was 175.0 minutes (90 to 240 min) and the mean intraoperative blood loss was 195.6 mL (50 to 800 mL). The 34 patients underwent successful laparoscopic surgeries with no open conversions. For 32 patients, there were no technological complications in the transoral insertion of the anvil to the esophageal stump. There were no anastomotic leaks after the surgery. The use of the OrVil device, a "the oral to the abdomen" method, changes the direction of the anvil insertion and significantly decreases both difficulty and duration of the laparoscopic surgery. More importantly, if the mass is at a higher position, this approach can achieve a higher surgical margin compared with the hand-sewn purse

Features of Turner syndrome among a group of Cameroonian patients.

PubMed

Wonkam, Ambroise; Veigne, Sandra W; Abass, Ali; Ngo Um, Suzanne; Noubiap, Jean Jacques N; Mbanya, Jean-Claude; Sobngwi, Eugene

2015-06-01

To describe the features of Turner syndrome among a group of Cameroonian patients. A descriptive cross-sectional study was conducted among patients with amenorrhea and/or short stature who attended the genetic unit of Yaoundé Gynecology, Obstetrics and Pediatric Hospital (Yaoundé, Cameroon) for a specialist consultation between July 1, 2007, and December 31, 2008. Sociodemographic, clinical, and cytogenetic data were collected. Turner syndrome was confirmed among 11 of the 14 participants (seven had monosomy of the X chromosome; four had mosaicism involving a structural abnormality of the second X chromosome). The mean age at diagnosis was 18.4±2.8years. The reasons for consultation were delayed puberty (n=10) and short stature (n=1). Nine patients had a short neck, nine had a forearm carrying-angle deformity, eight had a low hairline, and two had a webbed neck. Abdominal ultrasonography identified a horseshoe kidney in two patients and a rudimentary uterus in nine patients. None of the patients displayed cardiac abnormalities. Hypergonadotropic hypogonadism was reported among five patients. Eight patients did not receive hormonal treatment owing to advanced bone age or economic reasons. Late diagnosis and variable phenotypic expression were key features of Cameroonian patients with Turner syndrome. Copyright © 2015 International Federation of Gynecology and Obstetrics. Published by Elsevier Ireland Ltd. All rights reserved.

Metabolic syndrome and renal sodium handling in three ethnic groups living in England.

PubMed

Barbato, A; Cappuccio, F P; Folkerd, E J; Strazzullo, P; Sampson, B; Cook, D G; Alberti, K G M M

2004-01-01

Increased proximal renal sodium re-absorption is associated with central adiposity and insulin resistance in white men. Our study examined whether this association also exists in other ethnic groups with different prevalences of insulin resistance and associated metabolic abnormalities. We studied the association between fractional renal excretion of endogenous lithium (FELi) and metabolic syndrome in a population study of 1190 randomly selected men and women who where 40 to 59 years of age (426 white, 397 of African and 367 of South Asian origin). Anthropometric values, blood pressure, biochemical values, questionnaire data and timed urine collections were obtained with standardised techniques. Endogenous lithium in serum and urine was measured by absorption spectrophotometry. Metabolic markers were the homeostasis model assessment (HOMA) index, waist circumference, serum triglycerides, serum HDL cholesterol and metabolic syndrome as defined by Adult Treatment Panel III criteria. In white men and women a higher rate of proximal sodium re-absorption was inversely associated with higher waist circumference, serum triglycerides and HOMA index, and with lower serum HDL cholesterol (all p< or =0.001). No associations were found in people of African or South Asian origin. The former had lower FELi than the other groups. White people with the metabolic syndrome had a lower FELi than those without (15.9% vs 19.0%; p=0.003). No difference was found in people of African or South Asian origin. Increased proximal sodium re-absorption is associated with the metabolic syndrome in white men and women. This relationship is not seen in people of African or South Asian origin, despite a greater degree of insulin resistance.

[Are members of fibromyalgia syndrome self-help groups "different"? Demographic and clinical characteristics of members and non-members of fibromyalgia syndrome self-help groups].

PubMed

Jung, E; Erbslöh-Möller, B; Gesmann, M; Kühn-Becker, H; Petermann, F; Langhorst, J; Weiss, T; Thoma, R; Winkelmann, A; Häuser, W

2013-06-01

No data were available on demographic and clinical characteristics of members of fibromyalgia syndrome (FMS) self-help groups in Germany. The study was carried out from November 2010 to April 2011. A set of questionnaires was distributed by the German League Against Rheumatism and the German Fibromyalgia Association to members and to all consecutive FMS patients at nine clinical centres of different levels of care. The set included a self-developed questionnaire on demographic and medical data and on previously and currently used therapies, the patient health questionnaire (PHQ 4) and the fibromyalgia survey questionnaire. Members of FMS self-help groups (N = 1,014) were older and reported a longer duration of chronic widespread pain, less anxiety and depression and a more frequent current use of aerobic exercise, relaxation training and complementary alternative medication than participants not affiliated with FMS self-help groups (N = 630). Membership in FMS self-help groups was associated with less psychological distress and a more frequent use of active self-management strategies.

Seckel syndrome: an overdiagnosed syndrome.

PubMed Central

Thompson, E; Pembrey, M

1985-01-01

Five children in whom a diagnosis of Seckel syndrome had previously been made were re-examined in the genetic unit. One child had classical Seckel syndrome, a sib pair had the features of the syndrome with less severe short stature, and in two children the diagnosis was not confirmed. Seckel syndrome is only one of a group of low birth weight microcephalic dwarfism and careful attention should be paid to fulfillment of the major criteria defined by Seckel before the diagnosis is made. There remains a heterogeneous group of low birth weight microcephalic dwarfism yet to be defined. Images PMID:4040172

The relationship between group A streptococcal infections and Tourette syndrome: a study on a large service-based cohort.

PubMed

Martino, Davide; Chiarotti, Flavia; Buttiglione, Maura; Cardona, Francesco; Creti, Roberta; Nardocci, Nardo; Orefici, Graziella; Veneselli, Edvige; Rizzo, Renata

2011-10-01

To evaluate the relationship between diagnosis and clinical course of Tourette syndrome and group A Streptococcus (GAS). GAS infections, anti-streptococcal, and anti-basal ganglia antibodies (ABGA) were compared between 168 patients (136 males, 32 females) with Tourette syndrome; (median [range] age [25th-75th centile] 10y [8-11y]); median Tourette syndrome duration (25th-75th centile), 3y (1y 3mo-5y 9mo) and a comparison group of 177 patients (117 males, 60 females) with epileptic or sleep disorders median age [25th-75th centile], 10y [8y-1y 6mo]). One hundred and forty-four patients with Tourette syndrome were followed up at 3-month intervals; exacerbations of tics, obsessive-compulsive symptoms, and other psychiatric comorbidities were defined by a bootstrap procedure. The effect of new GAS infections and identification of new ABGA upon risk of exacerbation was assessed using logistic regression analysis. Cross-sectionally, patients with Tourette syndrome exhibited a higher frequency of GAS infection (8% vs 2%; p=0.009), higher anti-streptolysin O (ASO) titres (246 [108-432] vs 125 [53-269]; p<0.001), and higher ABGA frequency (25% vs 8%; p<0.001) than the comparison group. On prospective analysis, ASO titres were persistently elevated in 57% of patients with Tourette syndrome; however, new infections or newly identified ABGA did not predict clinical exacerbations (all p>0.05). Patients with Tourette syndrome might be more prone to GAS infections and develop stronger antibody responses to GAS, probably as a result of underlying immune dysregulation. New GAS infections are unlikely to exert, years after their onset, a major effect upon the severity of neuropsychiatric symptoms. © The Authors. Developmental Medicine & Child Neurology © 2011 Mac Keith Press.

Xeroderma pigmentosum complementation group G associated with Cockayne syndrome

DOE Office of Scientific and Technical Information (OSTI.GOV)

Vermeulen, W.; Jaspers, N.G.J.; Bootsma, D.

1993-07-01

Xeroderma pigmentosum (XP) and Cockayne syndrome (CS) are two rare inherited disorders with a clinical and cellular hypersensitivity to the UV component of the sunlight spectrum. Although the two traits are generally considered as clinically and genetically distinct entities, on the biochemical level a defect in the nucleotide excision-repair (NER) pathway is involved in both. Classical CS patients are primarily deficient in the preferential repair of DNA damage in actively transcribed genes, whereas in most XP patients the genetic defect affects both [open quotes]preferential[close quotes] and [open quotes]overall[close quotes] NER modalities. Here the authors report a genetic study of twomore » unrelated, severely affected patients with the clinical characteristics of CS but with a biochemical defect typical of XP. By complementation analysis, using somatic cell fusion and nuclear microinjection of cloned repair genes, they assign these two patients to XP complementation group G, which previously was not associated with CS. This observation extends the earlier identification of two patients with a rare combined XP/CS phenotype within XP complementation groups B and D, respectively. It indicates that some mutations in at least three of the seven genes known to be involved in XP also can result in a picture of partial or even full-blown CS. It is concluded that the syndromes XP and CS are biochemically closely related and may be part of a broader clinical disease spectrum. The authors suggest, as a possible molecular mechanism underlying this relation, that the XPGC repair gene has an additional vital function, as shown for some other NER genes. 33 refs., 5 tabs.« less

Experience of sleep disruption in primary Sjögren’s syndrome: A focus group study

PubMed Central

Deary, Vincent; Deane, Katherine HO; Newton, Julia L; Ng, Wan-Fai; Rapley, Tim

2018-01-01

Introduction Primary Sjögren’s syndrome is the third most common systemic autoimmune rheumatic disease, following rheumatoid arthritis and systemic lupus erythematosus, and results in dryness, fatigue, discomfort and sleep disturbances. Sleep is relatively unexplored in primary Sjögren’s syndrome. We investigated the experiences of sleep disturbances from the viewpoint of primary Sjögren’s syndrome patients and their partners and explored the acceptability of cognitive behavioural therapy for insomnia. Method We used focus groups to collect qualitative data from 10 patients with primary Sjögren’s syndrome and three partners of patients. The data were recorded, transcribed verbatim and analysed using thematic analysis. Results Five themes emerged from the data: (a) Experience of sleep disturbances; (b) variation and inconsistency in sleep disturbances; (c) the domino effect of primary Sjögren’s syndrome symptoms; (d) strategies to manage sleep; (e) acceptability of evidence-based techniques. Sleep disturbances were problematic for all patients, but specific disturbances varied between participants. These included prolonged sleep onset time and frequent night awakenings and were aggravated by pain and discomfort. Patients deployed a range of strategies to try and self-manage. Cognitive behavioural therapy for insomnia was seen as an acceptable intervention, as long as a rationale for its use is given and it is tailored for primary Sjögren’s syndrome. Conclusion Primary Sjögren’s syndrome patients described a range of sleep disturbances. Applying tailored, evidence-based sleep therapy interventions may improve sleep, severity of other primary Sjögren’s syndrome symptoms and functional ability. PMID:29657352

Outcome of acute lymphoblastic leukemia in children with down syndrome-Polish pediatric leukemia and lymphoma study group report.

PubMed

Zawitkowska, Joanna; Odój, Teresa; Drabko, Katarzyna; Zaucha-Prażmo, Agnieszka; Rudnicka, Julia; Romiszewski, Michał; Matysiak, Michał; Kwiecińska, Kinga; Ćwiklińska, Magdalena; Balwierz, Walentyna; Owoc-Lempach, Joanna; Derwich, Katarzyna; Wachowiak, Jacek; Niedźwiecki, Maciej; Adamkiewicz-Drożyńska, Elżbieta; Trelińska, Joanna; Młynarski, Wojciech; Kołtan, Andrzej; Wysocki, Mariusz; Tomaszewska, Renata; Szczepański, Tomasz; Płonowski, Marcin; Krawczuk-Rybak, Maryna; Ociepa, Tomasz; Urasiński, Tomasz; Mizia-Malarz, Agnieszka; Sobol-Milejska, Grażyna; Karolczyk, Grażyna; Kowalczyk, Jerzy

2017-05-01

Children with Down syndrome (DS) have a 20-fold increased risk of developing leukemia compared with the general population. The aim of the study was to analyze the outcome of patients diagnosed with Down syndrome and acute lymphoblastic leukemia (ALL) in Poland between the years 2003 and 2010. A total of 1848 children were diagnosed with ALL (810 females and 1038 males). Of those, 41 (2.2%) had DS. The children were classified into three risk groups: a standard-risk group-14 patients, an intermediate-risk group-24, a high-risk group-3. All patients were treated according to ALLIC 2002 protocol. The median observation time of all patients was 6.1 years, and in patients with DS 5.3 years. Five-year overall survival (OS) was the same in all patients (86% vs 86%, long-rank test, p = .9). The relapse-free survival (RFS) was calculated as 73% in patients with DS and 81% in patients without DS during a median observation time (long-rank test, p = .3). No statistically significant differences were found in the incidence of nonrelapse mortality between those two groups of patients (p = .72). The study was based on children with ALL and Down syndrome who were treated with an identical therapy schedule as ALL patients without DS, according to risk group. This fact can increase the value of the presented results.

Cost analysis of plasma-exchange therapy for the treatment of Guillain-Barré syndrome. French Cooperative Group on Plasma Exchange in Guillain-Barré Syndrome.

PubMed

Espérou, H; Jars-Guincestre, M C; Bolgert, F; Raphaël, J C; Durand-Zaleski, I

2000-08-01

To undertake a cost analysis of therapeutic strategies with plasma exchange (PE) for the treatment of patients with Guillain-Barré syndrome. A randomized clinical trial including 556 patients with Guillain-Barré syndrome. We demonstrated that in the group with mild disease (walking possible) two PEs were more effective than none in shortening the time to beginning motor recovery. In the groups with moderate disease (walking impossible) and or severe disease (mechanically ventilated patients) four sessions were more effective than two and no more effective than six in shortening the time to recovery of walking with assistance and for the recovery rate of full muscle strength within 1 year. Data on outcomes and costs was collected. Complete cost data were available on 546 from the 556 patients of the trial. Costs were estimated from the viewpoint of the healthcare system and computed over a 1-year period. Because the analysis of medical outcomes did not show any difference regarding mortality but only on intermediate short-term and long-term outcomes, we carried out a cost minimization analysis. In two groups a dominant strategy appeared, with greater efficacy and lower costs in the two-PE arm for the mild group: 21,353 euros vs. 38,753 euros and in the four-PE arm in the moderate group: 59,480 euros vs. 80,737 euros. In the severe group four PEs were as efficient and somewhat less expensive than six: 57,621 vs. 61,056 euros. The treatment of Guillain-Barré syndrome by PE at the onset of disease appears to have medical justification. The least expensive strategies are either more or equally efficient as more expensive strategies.

Mathematics learning disability in girls with Turner syndrome or fragile X syndrome.

PubMed

Murphy, Melissa M; Mazzocco, Michèle M M; Gerner, Gwendolyn; Henry, Anne E

2006-07-01

Two studies were carried out to examine the persistence (Study 1) and characteristics (Study 2) of mathematics learning disability (MLD) in girls with Turner syndrome or fragile X during the primary school years (ages 5-9 years). In Study 1, the rate of MLD for each syndrome group exceeded the rate observed in a grade-matched comparison group, although the likelihood of MLD persisting through the primary school years was comparable for all three groups. In Study 2, formal and informal math skills were compared across the syndrome groups, a normative group, and children from the normative group who had MLD. Few differences were observed between the Turner syndrome and normative groups. Despite having rote counting and number representation skills comparable to those in the normative group, girls with fragile X had difficulty with counting rules (e.g., cardinality, number constancy). However, this difficulty did not distingush them from the MLD group. Overall, counting skills appear to distinguish the Turner syndrome and fragile X groups, suggesting that the specificity of math deficits emerges earlier for fragile X than Turner syndrome.

Event-Related Potential Patterns Associated with Hyperarousal in Gulf War Illness Syndrome Groups

PubMed Central

Tillman, Gail D.; Calley, Clifford S.; Green, Timothy A.; Buhl, Virginia I.; Biggs, Melanie M.; Spence, Jeffrey S.; Briggs, Richard W.; Haley, Robert W.; Hart, John; Kraut, Michael A.

2012-01-01

An exaggerated response to emotional stimuli is one of several symptoms widely reported by veterans of the 1991 Persian Gulf War. Many have attributed these symptoms to post-war stress; others have attributed the symptoms to deployment-related exposures and associated damage to cholinergic, dopaminergic, and white matter systems. We collected event-related potential (ERP) data from 20 veterans meeting Haley criteria for Gulf War Syndromes 1–3 and from 8 matched Gulf War veteran controls, who were deployed but not symptomatic, while they performed an auditory three-condition oddball task with gunshot and lion roar sounds as the distractor stimuli. Reports of hyperarousal from the ill veterans were significantly greater than those from the control veterans; different ERP profiles emerged to account for their hyperarousability. Syndromes 2 and 3, who have previously shown brainstem abnormalities, show significantly stronger auditory P1 amplitudes, purported to indicate compromised cholinergic inhibitory gating in the reticular activating system. Syndromes 1 and 2, who have previously shown basal ganglia dysfunction, show significantly weaker P3a response to distractor stimuli, purported to indicate dysfunction of the dopaminergic contribution to their ability to inhibit distraction by irrelevant stimuli. All three syndrome groups showed an attenuated P3b to target stimuli, which could be secondary to both cholinergic and dopaminergic contributions or disruption of white matter integrity. PMID:22691951

Development and characteristics of children with Usher syndrome and CHARGE syndrome.

PubMed

Dammeyer, Jesper

2012-09-01

Individuals with Usher syndrome or CHARGE syndrome are faced with a number of difficulties concerning hearing, vision, balance, and language development. The aim of the study is to describe the developmental characteristics of children with Usher syndrome and CHARGE syndrome, respectively. Data about the developmental characteristics of 26 children with Usher syndrome and 17 children with CHARGE syndrome was obtained. Associations between deafblindness (dual sensory loss), motor development (age of walking), language abilities, and intellectual outcome of these children were explored for each group independently. Both groups of children face a number of difficulties associated with vision, hearing, language, balance and intellectual outcome. Intellectual disability and/or language delay was found among 42% of the children with Usher syndrome and among 82% of the children with CHARGE syndrome. Intellectual disability was associated with language delay and age of walking for both groups. Even though Usher and CHARGE are two different genetic syndromes, both groups are challenged with a number of similar developmental delays. Clinicians need to be aware of several developmental issues in order to offer adequate support to children with Usher or CHARGE syndrome. Copyright © 2012 Elsevier Ireland Ltd. All rights reserved.

Group hypnotherapy for irritable bowel syndrome with long-term follow-up.

PubMed

Gerson, Charles D; Gerson, Jessica; Gerson, Mary-Joan

2013-01-01

This study tested whether group gut-focused hypnotherapy would improve irritable bowel syndrome (IBS). Several possible outcome predictors were also studied. Before treatment, 75 patients completed a Symptom Severity Scale, a Mind-Body attribution questionnaire, and a Quality of Relationship Inventory (QRI). The symptom scale was completed posttreatment, 3, 6, and 12 months later. There was significant symptom reduction at each data point (p < .001). Sixty percent had a reduction of more than 50 points, indicative of clinical improvement. Initial severity score (p = .0004) and QRI conflict (p = .057) were directly correlated with a response to hypnotherapy, while attribution of symptoms to mind (emotional) causation was inversely correlated (p = .0056). The authors conclude that group hypnotherapy is effective in patients with IBS.

Phlegmonous gastritis associated with group A streptococcal toxic shock syndrome.

PubMed

Morimoto, Masaya; Tamura, Shinobu; Hayakawa, Takahiro; Yamanishi, Hirofumi; Nakamoto, Chiaki; Nakamoto, Hiromichi; Ikebe, Tadayoshi; Nakano, Yoshio; Fujimoto, Tokuzo

2014-01-01

Phlegmonous gastritis (PG) is a rare, acute, severe infectious disease of the gastric wall that is often fatal due to Streptococcus spp. A 77-year-old man with diabetes and a gastric ulcer was urgently admitted due to prolonged nausea and vomiting. Computed tomography revealed widespread diffuse thickening of the gastric wall, and PG was suspected. The patient expired less than 9 hours after admission despite intensive treatments. Later, an analysis of the blood and gastric juice revealed group A streptococcus (GAS) and virulence factors associated with toxic shock syndrome (TSS). We herein diagnosed a patient with an extremely aggressive course of PG caused by GAS TSS.

A Cross-Syndrome Study of the Development of Holistic Face Recognition in Children with Autism, Down Syndrome, and Williams Syndrome

ERIC Educational Resources Information Center

Annaz, Dagmara; Karmiloff-Smith, Annette; Johnson, Mark H.; Thomas, Michael S. C.

2009-01-01

We report a cross-syndrome comparison of the development of holistic processing in face recognition in school-aged children with developmental disorders: autism, Down syndrome, and Williams syndrome. The autism group was split into two groups: one with high-functioning children and one with low-functioning children. The latter group has rarely…

[A postpartum woman with toxic shock syndrome: group A streptococcal infection, a much feared postpartum complication.

PubMed

Abbink, K; Kortekaas, J C; Buise, M P; Dokter, J; Kuppens, S M I; Hasaart, T H M

2016-01-01

The development of toxic shock syndrome (TSS) after an invasive group A streptococcal (GAS) infection in the postpartum period is a much feared complication. The mortality rate of TSS with necrotizing fasciitis is 30 to 50%. We present the case of a woman with atypical pelvic pain which was the first symptom of toxic shock syndrome as a consequence of a GAS infection. Clinical deterioration necessitated a hysterectomy. Also a fasciotomy was performed as consequence of lower extremity compartment syndrome. After this, multiple debridement operations were necessary, followed by split skin grafts. This case illustrates the extremely serious complications of GAS infection. In some cases aggressive surgical intervention is necessary, in addition to an optimal antibiotic treatment regime. Ideally, the treatment of a GAS-induced TSS should be managed by a multidisciplinary medical team.

Experiences of parenting young people with a diagnosis of Asperger syndrome: a focus group study.

PubMed

Chell, Neil

2006-05-01

Asperger syndrome only became recognised as a distinct diagnostic category in more recent versions of ICD 10 (WHO 1992) and DSM IV (APA 1994). Whilst a great deal of work has taken place since this time, there has been little research directed at understanding the experiences of families raising children with this diagnosis (Blacher 2003). This focus group study involved engaging directly with parents of children diagnosed with Asperger syndrome in order to understand something of their experiences with particular reference to what has or might be helpful. The aim of the study is to identify parent's perspectives and insights in order to inform service development.

Psychosomatic syndromes and anorexia nervosa

PubMed Central

2013-01-01

Background In spite of the role of some psychosomatic factors as alexithymia, mood intolerance, and somatization in both pathogenesis and maintenance of anorexia nervosa (AN), few studies have investigated the prevalence of psychosomatic syndromes in AN. The aim of this study was to use the Diagnostic Criteria for Psychosomatic Research (DCPR) to assess psychosomatic syndromes in AN and to evaluate if psychosomatic syndromes could identify subgroups of AN patients. Methods 108 AN inpatients (76 AN restricting subtype, AN-R, and 32 AN binge-purging subtype, AN-BP) were consecutively recruited and psychosomatic syndromes were diagnosed with the Structured Interview for DCPR. Participants were asked to complete psychometric tests: Body Shape Questionnaire, Beck Depression Inventory, Eating Disorder Inventory–2, and Temperament and Character Inventory. Data were submitted to cluster analysis. Results Illness denial (63%) and alexithymia (54.6%) resulted to be the most common syndromes in our sample. Cluster analysis identified three groups: moderate psychosomatic group (49%), somatization group (26%), and severe psychosomatic group (25%). The first group was mainly represented by AN-R patients reporting often only illness denial and alexithymia as DCPR syndromes. The second group showed more severe eating and depressive symptomatology and frequently DCPR syndromes of the somatization cluster. Thanatophobia DCPR syndrome was also represented in this group. The third group reported longer duration of illness and DCPR syndromes were highly represented; in particular, all patients were found to show the alexithymia DCPR syndrome. Conclusions These results highlight the need of a deep assessment of psychosomatic syndromes in AN. Psychosomatic syndromes correlated differently with both severity of eating symptomatology and duration of illness: therefore, DCPR could be effective to achieve tailored treatments. PMID:23302180

Cervical neuro-muscular syndrome: discovery of a new disease group caused by abnormalities in the cervical muscles.

PubMed

Matsui, Takayoshi; Ii, Kunio; Hojo, Shuntaro; Sano, Keiji

2012-01-01

Our previous study of whiplash injury found that abnormalities in the cervical muscles cause autonomic dystonia. Further research has found that abnormalities in the cervical muscles cause headache, chronic fatigue syndrome, vertigo, and dizziness. We named this group of diseases cervical neuro-muscular syndrome. Patients treated within a 2-year period from April 1, 2002 to March 31, 2004 reported good outcomes in 83.8% for headache, 88.4% for vertigo and dizziness, 84.5% for chronic fatigue syndrome, 88.0% for autonomic dystonia, and 83.7% for whiplash-associated disorder. A large number of outpatients present with general malaise, including many general physical complaints without identifiable cause. We propose that treatment of the cervical muscle is effective for general malaise.

Receiving the Initial Down Syndrome Diagnosis: A Comparison of Prenatal and Postnatal Parent Group Experiences

ERIC Educational Resources Information Center

Nelson Goff, Briana S.; Springer, Nicole; Foote, Laura Cline; Frantz, Courtney; Peak, Madison; Tracy, Courtney; Veh, Taylor; Bentley, Gail E.; Cross, Kayli A.

2013-01-01

This study explored the preliminary experiences of parents upon learning of their child's diagnosis of Down syndrome. Qualitative data from a web-based, national survey were analyzed based on two groups: prenatal ("n" = 46) or postnatal ("n" = 115) diagnosis. Three primary categories emerged from the data analysis:…

Oral Health Condition and Treatment Needs of a Group of Nigerian Individuals with Down Syndrome

ERIC Educational Resources Information Center

Oredugba, Folakemi A.

2007-01-01

Objective: This study was carried out to determine the oral health condition and treatment needs of a group of individuals with Down syndrome in Nigeria. Method: Participants were examined for oral hygiene status, dental caries, malocclusion, hypoplasia, missing teeth, crowding and treatment needs. Findings were compared with controls across age…

Clinical and genetic characteristics in a group of 45 patients with Turner syndrome (monocentric study).

PubMed

Bucerzan, Simona; Miclea, Diana; Popp, Radu; Alkhzouz, Camelia; Lazea, Cecilia; Pop, Ioan Victor; Grigorescu-Sido, Paula

2017-01-01

Recent years have seen a shift in perspective on Turner syndrome, as it is no longer considered a significant disability due to therapeutic advances. The delay of diagnosis and the underdiagnosis are common in Turner syndrome, especially because of the great phenotypic variability and lack of firm diagnostic criteria. Our first aim was to assess the clinical and the cytogenetic characteristics and growth rate in growth hormone (GH)-treated patients as compared to those with spontaneous growth. The second aim was to analyze the Y chromosomal sequences. We analyzed 45 patients diagnosed with Turner syndrome in Genetic Pathology Centre of Cluj Emergency Children's Hospital. We carried out a study of the clinical features, the correlations between the karyotype and the phenotype, and we also made a research of Y chromosome sequences. The average age at diagnosis was 8.9±5.4 years. A significant association was observed between the number of external phenotypical abnormalities and internal malformations ( r =0.45), particularly the cardiovascular ones ( r =0.44). Patients treated with GH showed improvement in growth rate, with final stature significantly better than in untreated patients; benefits following treatment were greater if diagnosis was made before the age of 5 years. Thirteen percent of patients experienced spontaneous and complete puberty, whereas 30% experienced incomplete puberty. Patients with the 45,X genotype had a greater stature deficit and a higher incidence of cardiac malformations, compared with patients with 45,X/46,XX mosaic karyotype. Y chromosome sequences were found in only one patient, who subsequently underwent gonadectomy. The importance of this study resides, to the best of our knowledge, in the fact that the largest group of patients in Romania was analyzed and assessed. To draw firm conclusions on the most valuable clinical indicators for Turner syndrome diagnosis in clinical practice, studies on large groups of patients should be

Evaluation of Brief Group-Administered Instruction for Parents to Prevent or Minimize Sleep Problems in Young Children with Down Syndrome

ERIC Educational Resources Information Center

Stores, Rebecca; Stores, Gregory

2004-01-01

Background: The study concerns the unknown value of group instruction for mothers of young children with Down syndrome (DS) in preventing or minimizing sleep problems. Method: (1) Children with DS were randomly allocated to an Instruction group (given basic information about children's sleep) and a Control group for later comparison including…

Clinical and genetic characteristics in a group of 45 patients with Turner syndrome (monocentric study)

PubMed Central

Bucerzan, Simona; Miclea, Diana; Popp, Radu; Alkhzouz, Camelia; Lazea, Cecilia; Pop, Ioan Victor; Grigorescu-Sido, Paula

2017-01-01

Introduction Recent years have seen a shift in perspective on Turner syndrome, as it is no longer considered a significant disability due to therapeutic advances. The delay of diagnosis and the underdiagnosis are common in Turner syndrome, especially because of the great phenotypic variability and lack of firm diagnostic criteria. Aim Our first aim was to assess the clinical and the cytogenetic characteristics and growth rate in growth hormone (GH)-treated patients as compared to those with spontaneous growth. The second aim was to analyze the Y chromosomal sequences. Materials and methods We analyzed 45 patients diagnosed with Turner syndrome in Genetic Pathology Centre of Cluj Emergency Children’s Hospital. We carried out a study of the clinical features, the correlations between the karyotype and the phenotype, and we also made a research of Y chromosome sequences. Results The average age at diagnosis was 8.9±5.4 years. A significant association was observed between the number of external phenotypical abnormalities and internal malformations (r=0.45), particularly the cardiovascular ones (r=0.44). Patients treated with GH showed improvement in growth rate, with final stature significantly better than in untreated patients; benefits following treatment were greater if diagnosis was made before the age of 5 years. Thirteen percent of patients experienced spontaneous and complete puberty, whereas 30% experienced incomplete puberty. Patients with the 45,X genotype had a greater stature deficit and a higher incidence of cardiac malformations, compared with patients with 45,X/46,XX mosaic karyotype. Y chromosome sequences were found in only one patient, who subsequently underwent gonadectomy. Conclusion The importance of this study resides, to the best of our knowledge, in the fact that the largest group of patients in Romania was analyzed and assessed. To draw firm conclusions on the most valuable clinical indicators for Turner syndrome diagnosis in clinical

Relationship between two blood stasis syndromes and inflammatory factors in patients with acute coronary syndrome.

PubMed

Ma, Cai-Yun; Liu, Jing-Hua; Liu, Jian-Xun; Shi, Da-Zhuo; Xu, Zhen-Ye; Wang, Shao-Ping; Jia, Min; Zhao, Fu-Hai; Jiang, Yue-Rong; Ma, Qin; Peng, Hong-Yu; Lu, Yuan; Zheng, Ze; Ren, Feng-Xue

2017-11-01

To investigate the relationship between inflammatory factors and two Chinese medicine (CM) syndrome types of qi stagnation and blood stasis (QSBS) and qi deficiency and blood stasis (QDBS) in patients with acute coronary syndrome (ACS). Sixty subjects with ACS, whose pathogenesis changes belongs to qi disturbance blood stasis syndrome, were divided into 2 groups: 30 in the QSBS group and 30 in the QDBS group. The comparative analysis on them was carried out through comparing general information, coronary angiography and inflammatory factors including intracellular adhesion molecule-1 (ICAM-1), chitinase-3-like protein 1 (YKL-40) and lipoprotein-associated phospholipase A2 (Lp-PLA2). Compared with the QSBS group, Lp-PLA2 and YKL-40 levels in the QDBS group showed no-significant difference (P>0.05); ICAM-1 was significantly higher in the QDBS group than in the QSBS group in the pathological processes of qi disturbance and blood stasis syndrome of ACS (P<0.05). Inflammatory factor ICAM-1 may be an objective basis for syndrome typing of QSBS and QDBS, which provides a research direction for standardization research of CM syndrome types.

Brief Report: Repetitive Behaviour Profiles in Williams syndrome: Cross Syndrome Comparisons with Prader-Willi and Down syndromes.

PubMed

Royston, R; Oliver, C; Moss, J; Adams, D; Berg, K; Burbidge, C; Howlin, P; Nelson, L; Stinton, C; Waite, J

2018-01-01

This study describes the profile of repetitive behaviour in individuals with Williams syndrome, utilising cross-syndrome comparisons with people with Prader-Willi and Down syndromes. The Repetitive Behaviour Questionnaire was administered to caregivers of adults with Williams (n = 96), Prader-Willi (n = 103) and Down (n = 78) syndromes. There were few group differences, although participants with Williams syndrome were more likely to show body stereotypies. Individuals with Williams syndrome also showed more hoarding and less tidying behaviours than those with Down syndrome. IQ and adaptive ability were negatively associated with repetitive questioning in people with Williams syndrome. The profile of repetitive behaviour amongst individuals with Williams syndrome was similar to the comparison syndromes. The cognitive mechanisms underlying these behaviours in genetic syndromes warrant further investigation.

Metabolic syndrome: its features in overweight women with polycystic ovary syndrome as compared with obese women without ovarian dysfunction?

PubMed

Stoian, Dana; Craciunescu, Mihaela; Nitu, R; Navolan, D; Dumitru, C; Craina, M

2013-01-01

OVARIAN DYSFUNCTIOBJECTIVE: The study assesses the frequency of metabolic changes in overweight patients with or without polycystic ovary syndrome. The study group was made up by 148 patients of whom 99 patients without polycystic ovary syndrome (group A, control group) and 49 with polycystic ovary syndrome (group B), that came in our endocrine unit for a weight loss program, in the September 2008 March 2009 period. Morphometric parameters (height, weight, body mass index), biological parameters (cholesterol, triglycerides, blood glucose, glycated hemoglobin) and body composition analysis by measuring the electrical bioimpedance, were evaluated. Patients with polycystic ovary syndrome have a higher percentage of total fat (38.22+/-7.2) than patients without polycystic ovary syndrome (36.316+/-5.65) (p<0.05), for the same characteristics. Glycated hemoglobin, blood glucose and triglycerides were found higher in group B patients. Furthermore, the amount of free testosterone is higher in group B patients compared to those in group A. The prevalence of metabolic syndrome was higher in polycystic ovary syndrome cases (26.13%) comparative with overweight cases (16.16%, p<0.01). In the group of overweight patients, the group of patients with polycystic ovary syndrome is a particular group showing more severe metabolic changes.

The Impact of Tourette's Syndrome in the School and the Family: Perspectives from Three Stakeholder Groups

ERIC Educational Resources Information Center

Rivera-Navarro, Jesús; Cubo, Esther; Almazán, Javier

2014-01-01

This article analyzes the perceptions of Spanish health professionals, children with Tourette's Syndrome (TS) and their parents about social, school and family problems related to the disorder. A qualitative research methodology was used involving Focus Groups (FGs) made up of children with TS (× 2 FGs), parents/caregivers of persons with TS (× 2…

Effectiveness of Group Cognitive-Behavioral Therapy on Symptoms of Premenstrual Syndrome (PMS) ‎.

PubMed

Maddineshat, Maryam; Keyvanloo, Sodabe; Lashkardoost, Hossein; Arki, Mina; Tabatabaeichehr, Mahbubeh

2016-01-01

Standards of care and treatment of premenstrual syndrome (PMS) vary. Non-drug ‎psychosocial intervention therapy is recommended for women with any kind of ‎discomfort or distress caused by PMS. The current study examined the effectiveness of ‎group cognitive-behavioral therapy on the symptoms of PMS at a girls' dormitory of ‎North Khorasan University of Medical Sciences. In this quasi-experimental study, 32 female students with PMS who were majoring in ‎nursing and midwifery and residing in the dormitory were selected using the ‎convenience sampling method and were assigned to experimental and control groups. ‎The Standardized Premenstrual Symptoms Screening Tool was used as the research ‎tool. Eight sessions of cognitive-behavioral group therapy were held for the students Results: There was a significant difference in psychological symptoms before and after ‎cognitive-behavioral therapy (p=0.012). Furthermore, cognitive-behavioral therapy was ‎effective on social interferences caused by PMS symptoms (p=0.012).‎ Group cognitive-behavioral therapy effectively alleviates PMS symptoms in female ‎college students.‎.

The developmental trajectory of disruptive behavior in Down syndrome, fragile X syndrome, Prader-Willi syndrome and Williams syndrome.

PubMed

Rice, Lauren J; Gray, Kylie M; Howlin, Patricia; Taffe, John; Tonge, Bruce J; Einfeld, Stewart L

2015-06-01

The aim of this study was to investigate the developmental trajectories of verbal aggression, physical aggression, and temper tantrums in four genetic syndrome groups. Participants were part of the Australian Child to Adult Development Study (ACAD), which collected information from a cohort of individuals with an intellectual disability at five time points over 18 years. Data were examined from a total of 248 people with one of the four following syndromes: Down syndrome, Fragile X syndrome, Prader-Willi syndrome, or Williams syndrome. Changes in behaviors were measured using validated items from the Developmental Behavior Checklist (DBC). The results indicate that, while verbal aggression shows no evidence of diminishing with age, physical aggression, and temper tantrums decline with age before 19 years for people with Down syndrome, Fragile X syndrome, and William syndrome; and after 19 years for people with Prader-Willi syndrome. These findings offer a somewhat more optimistic outlook for people with an intellectual disability than has previously been suggested. Research is needed to investigate the mechanisms predisposing people with PWS to persistence of temper tantrums and physical aggression into adulthood. © 2015 Wiley Periodicals, Inc.

Effectiveness of a group-based self-management program for people with chronic fatigue syndrome: a randomized controlled trial.

PubMed

Pinxsterhuis, Irma; Sandvik, Leiv; Strand, Elin Bolle; Bautz-Holter, Erik; Sveen, Unni

2017-01-01

To evaluate the effectiveness of a group-based self-management program for people with chronic fatigue syndrome. A randomized controlled trial. Four mid-sized towns in southern Norway and two suburbs of Oslo. A total of 137 adults with chronic fatigue syndrome. A self-management program including eight biweekly meetings of 2.5 hours duration. The control group received usual care. Primary outcome measure: Medical Outcomes Study-Short Form-36 physical functioning subscale. Fatigue severity scale, self-efficacy scale, physical and mental component summary of the Short Form-36, and the illness cognition questionnaire (acceptance subscale). Assessments were performed at baseline, and at six-month and one-year follow-ups. At the six-month follow-up, a significant difference between the two groups was found concerning fatigue severity ( p = 0.039) in favor of the control group, and concerning self-efficacy in favor of the intervention group ( p = 0.039). These significant differences were not sustained at the one-year follow-up. No significant differences were found between the groups concerning physical functioning, acceptance, and health status at any of the measure points. The drop-out rate was 13.9% and the median number of sessions attended was seven (out of eight). The evaluated self-management program did not have any sustained effect, as compared with receiving usual care.

Cognitive and Affective Uses of a Thoracic Outlet Syndrome Facebook Support Group.

PubMed

Walker, Kimberly K

2014-09-01

There are currently many disease-specific groups on Facebook in which patients may take an active part (Greene, Choudhry, Kilabuk, & Shrank, 2011). Although uses and gratifications of patient-disease groups have begun to be identified for chronic diseases, rare diseases have been omitted, even though they collectively affect roughly 30 million people in the United States and 350 million people worldwide. This study is a content analysis of one Facebook rare disease patient group, the Thoracic Outlet Syndrome (TOS) Awareness group. All wall posts were recorded and content analyzed for cognitive and affective categories and subcategories between October 9, 2011 (date of site origin), and May 1, 2012. Analysis of cognitive needs indicated TOS patients used the site more to share information about their own TOS symptoms and journey with diagnosis than to seek information. Analysis of affective needs found patients were more likely to use the site to give support and encouragement to others than to express concerns and complaints. The complaints they did express were primarily related to their frustration with the general medical community's perceived inability to diagnose and understand their disease or to question a specific doctor's diagnosis/recommendation. Results point to needs specific to TOS patients that uses and gratifications research can help clarify.

Detection of Severe Acute Respiratory Syndrome-Like, Middle East Respiratory Syndrome-Like Bat Coronaviruses and Group H Rotavirus in Faeces of Korean Bats.

PubMed

Kim, H K; Yoon, S-W; Kim, D-J; Koo, B-S; Noh, J Y; Kim, J H; Choi, Y G; Na, W; Chang, K-T; Song, D; Jeong, D G

2016-08-01

Bat species around the world have recently been recognized as major reservoirs of several zoonotic viruses, such as severe acute respiratory syndrome coronavirus (SARS-CoV), Middle East respiratory syndrome coronavirus (MERS-CoV), Nipah virus and Hendra virus. In this study, consensus primer-based reverse transcriptase polymerase chain reactions (RT-PCRs) and high-throughput sequencing were performed to investigate viruses in bat faecal samples collected at 11 natural bat habitat sites from July to December 2015 in Korea. Diverse coronaviruses were first detected in Korean bat faeces, including alphacoronaviruses, SARS-CoV-like and MERS-CoV-like betacoronaviruses. In addition, we identified a novel bat rotavirus belonging to group H rotavirus which has only been described in human and pigs until now. Therefore, our results suggest the need for continuing surveillance and additional virological studies in domestic bat. © 2016 Blackwell Verlag GmbH.

Effects of ICT Group Work on Interactions and Social Acceptance of a Primary Pupil with Asperger's Syndrome

ERIC Educational Resources Information Center

Lewis, Lynda; Trushell, John; Woods, Pat

2005-01-01

The aim of this study was to ascertain whether collaborative group work on a computer, facilitated by an adult, could provide a means for a primary schoolboy with Asperger's Syndrome (AS) -- moderately-highly affected in all areas of the "triad of impairments" -- to develop appropriate task-related interactions with his peers. Data were gathered…

Bacterial phenotype variants in group B streptococcal toxic shock syndrome.

PubMed

Sendi, Parham; Johansson, Linda; Dahesh, Samira; Van-Sorge, Nina M; Darenberg, Jessica; Norgren, Mari; Sjölin, Jan; Nizet, Victor; Norrby-Teglund, Anna

2009-02-01

We conducted genetic and functional analyses of isolates from a patient with group B streptococcal (GBS) necrotizing fasciitis and toxic shock syndrome. Tissue cultures simultaneously showed colonies with high hemolysis (HH) and low hemolysis (LH). Conversely, the HH and LH variants exhibited low capsule (LC) and high capsule (HC) expression, respectively. Molecular analysis demonstrated that the 2 GBS variants were of the same clonal origin. Genetic analysis found a 3-bp deletion in the covR gene of the HH/LC variant. Functionally, this isolate was associated with an increased growth rate in vitro and with higher interleukin-8 induction. However, in whole blood, opsonophagocytic and intracellular killing assays, the LH/HC phenotype demonstrated higher resistance to host phagocytic killing. In a murine model, LH/HC resulted in higher levels of bacteremia and increased host mortality rate. These findings demonstrate differences in GBS isolates of the same clonal origin but varying phenotypes.

Macular structural characteristics in children with Down syndrome.

PubMed

O'Brien, Scott; Wang, Jingyun; Smith, Heather A; Donaldson, Dana L; Haider, Kathryn M; Roberts, Gavin J; Sprunger, Derek T; Neely, Daniel E; Plager, David A

2015-12-01

This prospective study aimed to investigate macular structural characteristics in children with Down syndrome compared to those in healthy children. Two groups of children (aged 6-16 years) were enrolled: children with Down syndrome (Down syndrome group, N = 17) and age-matched healthy children who were full-term at birth (control group, N = 18). Eligible patients had visual acuity of 20/100 or better and gestational age at birth of ≥ 36 weeks. Fourier domain optical coherence tomography was used for imaging of the macular retinal structure, and retinal volume scans centered on the macula were obtained. Central subfield thickness (CST) and the thickness of the inner and outer retinal layer regions were analyzed using the instrument's segmentation software. The analysis of data is provided for the right eye only, since there was no significant difference between right and left eyes for either the Down syndrome or control groups. Children in the Down syndrome group generally had identifiable retinal structure. The CST for the full retina and inner and outer retinal layers were all significantly greater in the Down syndrome group than the control group (independent t test, all p < 0.05). Despite the significantly thicker macula, only about 29 % (5 of 17) of the right eyes of patients with Down syndrome had macular thickness outside the normal range. Visual acuity in the Down syndrome group was not directly correlated with increased CST (t = 1.288, r = 0.326, p = 0.202). On average, CST in the Down syndrome group was greater than that in the control group, suggesting abnormal macular development in children with Down syndrome.

Prune belly syndrome

MedlinePlus

... treat or help prevent urinary tract infections. Support Groups The following resources can provide more information on prune belly syndrome: Prune Belly Syndrome Network -- www.prunebelly.org National Organization for Rare Disorders -- ...

Mathematics Learning Disability in Girls with Turner Syndrome or Fragile X Syndrome

ERIC Educational Resources Information Center

Murphy, Melissa M.; Mazzocco, Michele M. M.; Gerner, Gwendolyn; Henry, Anne E.

2006-01-01

Two studies were carried out to examine the persistence (Study 1) and characteristics (Study 2) of mathematics learning disability (MLD) in girls with Turner syndrome or fragile X during the primary school years (ages 5-9 years). In Study 1, the rate of MLD for each syndrome group exceeded the rate observed in a grade-matched comparison group,…

Cross Syndrome Comparison of Sleep Problems in Children with Down Syndrome and Williams Syndrome

ERIC Educational Resources Information Center

Ashworth, Anna; Hill, Catherine M.; Karmiloff-Smith, Annette; Dimitriou, Dagmara

2013-01-01

Based on previous findings of frequent sleep problems in children with Down syndrome (DS) and Williams syndrome (WS), the present study aimed to expand our knowledge by using parent report and actigraphy to define sleep problems more precisely in these groups. Twenty-two school-aged children with DS, 24 with WS and 52 typically developing (TD)…

The effects of growth hormone therapy on the somatic development of a group of Polish children with Silver-Russell syndrome.

PubMed

Sienko, Magdalena; Petriczko, Elżbieta; Zajaczek, Stanislaw; Zygmunt-Gorska, Agata; Starzyk, Jerzy; Korpysz, Alicja; Petriczko, Jan; Walczak, Alicja; Walczak, Mieczysław

2017-12-01

Silver-Russell Syndrome is both clinically and genetically a heterogeneous syndrome. Among the most important dysmorphic features of this condition are: a triangular shaped face with a small mandible, a prominent frontal eminence, a thin vermilion border with downward-pointing lip corners, clino- and brachydactyly of the 5th fingers as well as body asymmetry. The most well-known genetic mutations in this syndrome are: the 11p15 epimutation (20-60% patients) and the maternal uniparental chromosome 7 disomy present in 7% to 15% of patients. Children with SRS have severely impaired physical growth - intrauterine and after birth. This, together with the aforementioned dysmorphic features, forms the main diagnostic criteria. The study group consisted of 12 children treated with growth hormone, aged 2 to 17 (8.9±4.0 years), therein, all of whom met the phenotype diagnostic criteria by Wollmann and Price. The effects of growth hormone therapy on somatic development of these children are also presented. Height and weight improved as a result of growth hormone treatment, but the effects were significantly worse than in children with IUGR. Children from the study group presented also a smaller an improvement in growth velocity than children from the control group, but the difference was statistically insignificant. Growth hormone therapy accelerates the growth of children with SRS but to a smaller extent than the growth of children born with intrauterine growth retardation without dysmorphic features.

Genetics Home Reference: Bartter syndrome

MedlinePlus

... Email Facebook Twitter Home Health Conditions Bartter syndrome Bartter syndrome Printable PDF Open All Close All Enable Javascript to view the expand/collapse boxes. Description Bartter syndrome is a group of very similar kidney disorders ...

Memory in intellectually matched groups of young participants with 22q11.2 deletion syndrome and those with schizophrenia.

PubMed

Kravariti, Eugenia; Jacobson, Clare; Morris, Robin; Frangou, Sophia; Murray, Robin M; Tsakanikos, Elias; Habel, Alex; Shearer, Jo

2010-01-01

The 22q11.2 deletion syndrome (22qDS) and schizophrenia have genetic and neuropsychological similarities, but are likely to differ in memory profile. Confirming differences in memory function between the two disorders, and identifying their genetic determinants, can help to define genetic subtypes in both syndromes, identify genetic risk factors for the emergence of psychosis, and develop pharmacological interventions for cognitive dysfunction. However, no study has compared memory function between 22qDS and schizophrenia, while indirect comparisons are confounded by marked differences in IQ between the two populations. We compared verbal and visual memory in 29 children and adolescents with 22qDS and 15 intellectually matched youths with schizophrenia using age-appropriate, directly comparable, Wechsler scales. Verbal memory was markedly superior in the 22qDS group by 21 points. There were no group differences in visual memory. The inherently low COMT activity in 22qDS merits investigation as a potential protective factor for verbal memory. 2010 Elsevier Ltd. All rights reserved.

[Degree of physical activity and metabolic syndrome: a cross-sectional study among the Khisêdjê group in the Xingu Indigenous Park, Brazil].

PubMed

Santos, Kennedy Maia Dos; Tsutsui, Mario Luiz da Silva; Galvão, Patrícia Paiva de Oliveira; Mazzucchetti, Lalucha; Rodrigues, Douglas; Gimeno, Suely Godoy Agostinho

2012-12-01

This study aimed to verify the existence of an association between degree of physical activity and presence of metabolic syndrome in the Khisêdjê indigenous group. The authors evaluated 170 individuals 20 years or older, based on demographic data, physical examination, and laboratory tests. The data were analyzed with the chi-square test (p < 0.05), crude and adjusted prevalence ratios (point and 95% confidence intervals), and Student's t-test. Satisfactory results were observed in relation to cardiorespiratory endurance, flexibility, bending of arms and trunk, and measurement of physical activity according to the number of steps/day. Prevalence of metabolic syndrome was 27.8% and was higher in women, the 39-49-year and ≥ 50-year age groups, and in individuals with lower performance on the cardiorespiratory endurance test, horizontal impulse, and number of steps/day. The results indicate the need for greater surveillance in the control and prevention of risk factors for metabolic syndrome.

Habit reversal training and educational group treatments for children with tourette syndrome: A preliminary randomised controlled trial.

PubMed

Yates, Rachel; Edwards, Katie; King, John; Luzon, Olga; Evangeli, Michael; Stark, Daniel; McFarlane, Fiona; Heyman, Isobel; İnce, Başak; Kodric, Jana; Murphy, Tara

2016-05-01

Quality of life of children with Tourette Syndrome (TS) is impacted greatly by its symptoms and their social consequences. Habit Reversal Training (HRT) is effective but has not, until now, been empirically evaluated in groups. This randomised controlled trial evaluated feasibility and preliminary efficacy of eight HRT group sessions compared to eight Education group sessions. Thirty-three children aged 9-13 years with TS or Chronic Tic Disorder took part. Outcomes evaluated were tic severity and quality of life (QoL). Tic severity improvements were found in both groups. Motor tic severity (Yale Global Tic Severity Scale) showed greatest improvements in the HRT group. Both groups showed a strong tendency toward improvements in patient reported QoL. In conclusion, group-based treatments for TS are feasible and exposure to other children with tics did not increase tic expression. HRT led to greater reductions in tic severity than Education. Implications, such as cost-effectiveness of treatment delivery, are discussed. Copyright © 2016. Published by Elsevier Ltd.

ABO blood group in primary antiphospholipid syndrome: influence in the site of thrombosis?

PubMed

Nascimento, Natália Mastantuono; Bydlowski, Sergio Paulo; Soares, Rosangela Paula Silva; de Andrade, Danieli Castro Oliveira; Bonfá, Eloísa; Seguro, Luciana Parente Costa; Borba, Eduardo Ferreira

2015-10-01

Antiphospholipid syndrome (APS) is characterized by vascular thrombosis and/or obstetric complications associated with presence of antiphospholipid antibodies (aPL) but additional factors would also induce thrombosis. ABO (H) blood groups are known to be closely related to thrombosis, especially non-O blood type with venous events. The aim of this study was to investigate possible role of ABO (H) blood types in the thrombotic events in primary APS (PAPS). Seventy PAPS patients were selected for the study and were divided according to ABO blood group in: O PAPS (n = 26) and non-O PAPS (n = 44). ABO blood group phenotyping was performed by indirect technique. aPL anticardiolipin (aCL) and anti-βeta2 glycoprotein-1 (aβ2GPI) and the concentrations and activities of von Willebrand factor (VWF) were measured with ELISA. Lupus anticoagulant (LA) was detected by coagulation assays. A significant higher frequency of venous events was observed in non-O PAPS group (72.7 vs. 46.2 %, p = 0.040). In contrast, the frequency of arterial events was significantly higher in the O PAPS compared to the non-O PAPS group (69.2 vs. 36.4 %, respectively; p = 0.013). Frequencies of aCL, LA, aβ2GPI and triple aPL positivity were similar in both groups (p > 0.05). VWF antigen (75.54 ± 8.68 vs. 79.51 ± 7.07 IU/dl, p = 0.041) and activity (70.23 ± 11.96 vs. 77.92 ± 13.67 %, p = 0.020) were decreased in O PAPS compared to non-O blood group. VWF:CB/VWF:Ag ratio was similar among groups (p > 0.05). This is the first report that confirms the role of ABO blood system in thrombosis of PAPS and suggests that non-O blood group was related with venous events and O blood group with arterial thrombosis.

Cytogenic and molecular analyses of 46,XX male syndrome with clinical comparison to other groups with testicular azoospermia of genetic origin.

PubMed

Chiang, Han-Sun; Wu, Yi-No; Wu, Chien-Chih; Hwang, Jiann-Loung

2013-02-01

XX male is a rare sex chromosomal disorder in infertile men. The purpose of this study was to distinguish the clinical and genetic features of the 46,XX male syndrome from other more frequent, testicular-origin azoospermic causes of male infertility. To study 46,XX male syndrome, we compared clinical and endocrinological parameters to other groups with testicular-origin azoospermia, and to an age-matched group of healthy males and females as normal control. Fluorescent in situ hybridization for detection and localization of the sex-determining region of the Y gene (SRY), array-based comparative genomic hybridization screening, and real-time qualitative polymerase chain reaction of FGF9, WT1, NR5A1, and SPRY2 genes were performed in this genetic investigation. Our three patients with 46,XX male syndrome had a much higher follicular-stimulating hormone level, lower body height, lower testosterone level, and ambiguous external genitalia. One of the three patients with 46,XX male syndrome was SRY-negative. A further genetic study, including a comparative genomic hybridization array and real-time polymerase chain reaction, showed a gain of FGF9 copy numbers only in the SRY-negative 46,XX male. The genetic copy number of the FGF9 gene was duplicated in that case compared to the normal female control and was significantly lower than that of the normal male control. No such genomic gain was observed in the case of the two SRY-positive 46,XX males. Similar to clinical manifestations of 46,XX male syndrome, genetic evidence in this study suggests that FGF9 may contribute to sex reversal, but additional confirmation with more cases is still needed. Copyright © 2012. Published by Elsevier B.V.

Bacterial Phenotype Variants in Group B Streptococcal Toxic Shock Syndrome1

PubMed Central

Johansson, Linda; Dahesh, Samira; Van Sorge, Nina M.; Darenberg, Jessica; Norgren, Mari; Sjölin, Jan; Nizet, Victor; Norrby-Teglund, Anna

2009-01-01

We conducted genetic and functional analyses of isolates from a patient with group B streptococcal (GBS) necrotizing fasciitis and toxic shock syndrome. Tissue cultures simultaneously showed colonies with high hemolysis (HH) and low hemolysis (LH). Conversely, the HH and LH variants exhibited low capsule (LC) and high capsule (HC) expression, respectively. Molecular analysis demonstrated that the 2 GBS variants were of the same clonal origin. Genetic analysis found a 3-bp deletion in the covR gene of the HH/LC variant. Functionally, this isolate was associated with an increased growth rate in vitro and with higher interleukin-8 induction. However, in whole blood, opsonophagocytic and intracellular killing assays, the LH/HC phenotype demonstrated higher resistance to host phagocytic killing. In a murine model, LH/HC resulted in higher levels of bacteremia and increased host mortality rate. These findings demonstrate differences in GBS isolates of the same clonal origin but varying phenotypes. PMID:19193266

A content analysis of cognitive and affective uses of patient support groups for rare and uncommon vascular diseases: comparisons of may thurner, thoracic outlet, and superior mesenteric artery syndrome.

PubMed

Walker, Kimberly K

2015-01-01

Rare disease patients are the predominant group of patients who are now connecting online to patient support groups, yet research on their uses of support groups has received little attention. This is a content analysis of three vascular diseases of differing degrees of rarity. Wall posts from Facebook patient support groups for May Thurner syndrome, thoracic outlet syndrome, and superior mesenteric artery syndrome were analyzed over a period of two years. Using Uses and Gratifications as the theoretical framework, the study purpose was to assess how variations in health condition and rarity of condition affect online support group user needs. Results indicated common main cognitive and affective uses across conditions, indicating a consistent pattern of needs communicated by all patients. However, there were nuanced differences in subcategories of cognitive and affective uses between the most and least rare disorders, which inform areas for tailored support mechanisms. Additionally, these vascular patients used their respective support groups primarily for cognitive reasons, especially for the rarest conditions, which informs of basic medical informational needs these patients face related to tests, treatment, surgery, and diagnoses.

Targets to treat metabolic syndrome in polycystic ovary syndrome

PubMed Central

Mahalingaiah, Shruthi; Diamanti-Kandarakis, Evanthia

2016-01-01

Introduction Metabolic syndrome is comprised of a combination of the following states: increased insulin resistance, dyslipidemia, cardiovascular disease, and increased abdominal obesity. Women with polycystic ovary syndrome (PCOS) have an increased risk of developing metabolic syndrome over the course of their lives. Metabolic syndrome increases risk of major cardiovascular events, morbidity, quality of life, and overall health care costs. Though metabolic syndrome in women with PCOS is an area of great concern, there is no effective individual medical therapeutic to adequately treat this issue. Areas Covered This article will review key aspects of metabolic syndrome in PCOS. We will discuss classic and novel therapeutics to address metabolic syndrome in women with PCOS. We will conclude with the importance of developing strategic interventions to increase the compliance to lifestyle and dietary modification, in addition to appreciation of the emerging pharmaceutical therapeutics available. Expert Opinion Innovation in lifestyle modification, including diet, exercise, with and without dedicated stress reduction techniques is the future in treatment of metabolic syndrome in PCOS. Application of novel interventions, such as group medical care, may improve future adherence to lifestyle modification recommendations, in addition to or in combination with pharmaceutical therapeutics. PMID:26488852

Multicenter validation study of a transplantation-specific cytogenetics grouping scheme for patients with myelodysplastic syndromes.

PubMed

Armand, P; Deeg, H J; Kim, H T; Lee, H; Armistead, P; de Lima, M; Gupta, V; Soiffer, R J

2010-05-01

Cytogenetics is an important prognostic factor for patients with myelodysplastic syndromes (MDS). However, existing cytogenetics grouping schemes are based on patients treated with supportive care, and may not be optimal for patients undergoing allo-SCT. We proposed earlier an SCT-specific cytogenetics grouping scheme for patients with MDS and AML arising from MDS, based on an analysis of patients transplanted at the Dana-Farber Cancer Institute/Brigham and Women's Hospital. Under this scheme, abnormalities of chromosome 7 and complex karyotype are considered adverse risk, whereas all others are considered standard risk. In this retrospective study, we validated this scheme on an independent multicenter cohort of 546 patients. Adverse cytogenetics was the strongest prognostic factor for outcome in this cohort. The 4-year relapse-free survival and OS were 42 and 46%, respectively, in the standard-risk group, vs 21 and 23% in the adverse group (P<0.0001 for both comparisons). This grouping scheme retained its prognostic significance irrespective of patient age, disease type, earlier leukemogenic therapy and conditioning intensity. Therapy-related disease was not associated with increased mortality in this cohort, after taking cytogenetics into account. We propose that this SCT-specific cytogenetics grouping scheme be used for patients with MDS or AML arising from MDS who are considering or undergoing SCT.

National Identity in a Multicultural Society: Malaysian Children's Literature in English

ERIC Educational Resources Information Center

Desai, Christina M.

2006-01-01

This article explores the question of how children's literature reflects national identity in a diverse society. Drawing parallels with Ellison's "Invisible Man," it speculates on how literary omissions and misrepresentations of diverse groups may influence the minds of young readers in their attitudes toward themselves, their nation,…

[Streptococcal toxic shock syndrome].

PubMed

Gvozdenović, Ljiljana; Pasternak, Janko; Milovanović, Stanislav; Ivanov, Dejan; Milić, Sasa

2010-01-01

Streptococcal toxic shock syndrome is now recognized as a toxin-mediated, multisystem illness. It is characterized by an early onset of shock with multiorgan failure and continues to be associated with high morbidity and mortality, caused by group A Streptococcus pyogenes. The symptoms for staphylococcal and streptococcal toxic shock syndrome are similar. Streptococcal toxic shock syndrome was not well described until 1993, when children who had suffered from varicella presented roughly 2-4 weeks later with a clinical syndrome highly suggestive of toxic shock syndrome. It is characterized by a sudden onset of fever, chills, vomiting, diarrhea, muscle aches and rash. It can rapidly progress to severe and intractable hypotension and multisystem dysfunction. Almost every organ system can he involved. Complications of streptococcal toxic shock syndrome may include kidney failure, liver failure (and even death. Crystalloids and inotropic agents are used to treat the hypovolemic shock aggressively, with close monitoring of the patient's mean arterial pressure and central venous pressure. An immediate and aggressive management of hypovolemic shock is essential in streptococcal toxic shock syndrome. Targeted antibiotics are indicated: penicillin or a beta-lactam antibiotic is used for treating group A streptococci, and clindamycin has emerged as a key portion of the standard treatment.

Increasing Students' Familiarity with Cocurricular Experiences: A Pilot Trial

ERIC Educational Resources Information Center

Waterman, Emily A.; Small, Meg L.; Newman, Siri; Steich, Samantha P.

2016-01-01

Web based social media networks (SMNs) are one avenue used by students to seek cocurricular activities and social interactions that are valuable for college adjustment (DeAndrea, Ellison, LaRose, Steinfield, & Fiore, 2011; Ellison, Steinfield, & Lampe, 2007; Leung & Lee, 2005). Thus, the current project aims to increase students'…

Conversational behaviour of children with Asperger syndrome and conduct disorder.

PubMed

Adams, Catherine; Green, Jonathan; Gilchrist, Anne; Cox, Anthony

2002-07-01

Social communication problems in individuals who have Asperger syndrome constitute one of the most significant problems in the syndrome. This study makes a systematic analysis of the difficulties demonstrated with the use of language (pragmatics) in adolescents who have Asperger syndrome. Recent advances in discourse analysis were applied to conversational samples from a group of children with Asperger syndrome and a matched control group of children with severe conduct disorder. Two types of conversation were sampled from each group, differing in emotional content. The results showed that in these contexts children with Asperger syndrome were no more verbose as a group than controls, though they showed a tendency to talk more in more emotion-based conversations. Children with Asperger syndrome, as a group, performed similarly to control subjects in ability to respond to questions and comments. However, they were more likely to show responses which were problematic in both types of conversation. In addition, individuals with Asperger syndrome showed more problems in general conversation than during more emotionally and socially loaded topics. The group with Asperger syndrome was found to contain a small number of individuals with extreme verbosity but this was not a reliable characteristic of the group as a whole.

[Comparative study on Chinese medical syndrome typing and treatment combined different surgical methods for treating clomiphene-resistant polycystic ovary syndrome].

PubMed

Zeng, Lei; Zeng, Cheng; Tao, Li-Li

2012-11-01

To observe the therapeutic efficacy of Chinese medical syndrome typing and treatment combined cold needle puncture drainage operation or unipolar electrocoagulation drilling technique under laparoscope for treating clomiphene-resistant polycystic ovary syndrome (PCOS). Forty infertility patients with clomiphene-resistant PCOS were assigned to two groups using stratified random sampling method according to age, infertility time, and body mass index, 20 in each group. Patients in Group A were treated with Chinese medical syndrome typing and treatment combined cold needle puncture drainage operation, while those in Group B were treated with Chinese medical syndrome typing and treatment combined unipolar electrocoagulation drilling technique. After operation Chinese herbal treatment was administered to all patients according to syndrome typing. The serum levels of luteinizing hormone (LH), follicle stimulating hormone (FSH), androgen (T), estradiol (E2), and prolactin (PRL) were determined before and after operation. The ovulation was monitored. The pregnancy rate and the pregnancy outcomes were recorded after operation. There was no statistical difference in the 3-month spontaneous ovulation rate or the 1-year pregnancy rate (P > 0.05). The levels of LH, T, and PRL were significantly lower after operation than before operation in the two groups (P < 0.05). The menstruation and ovulation were obviously improved after operation. The total ovulation rate was 95% (19/20) in Group A. Successful pregnancy occurred in 15 cases of Group A. Ovarian hyperstimulation syndrome (OHSS) occurred in 1 case of Group A. The total ovulation rate was 90% (18/20) in Group B. Successful pregnancy occurred in 13 cases of Group B. Hypovaria occurred in 1 case of Group B. Luteinized unruptured follicle (LUFS) occurred in 2 cases of Group A and 1 case of Group B. Chinese medical syndrome typing and treatment combined cold needle puncture drainage operation or unipolar electrocoagulation

[Traditional Chinese medicine syndrome distribution and neuroendocrine mechanisms of irritable bowel syndrome: cross-sectional study].

PubMed

Hou, Zheng-Kun; Li, Mei; Xie, Di; Liu, Feng-Bin

2016-04-01

In order to clarify the traditional Chinese medicine(TCM) syndrome distribution and pathogenesis of irritable bowel syndrome(IBS), the patients in the first affiliated hospital of Guangzhou university of Chinese medicine were enrolled for the cross-sectional study. The data of 12 sociological variables, 13 risk factors, 84 symptoms and signs variables(in 9 aspects), and 19 neuroendocrine indices were extracted for group-between analysis with one-way ANOVA, chi-square test and nonparametric test, and the relationship analysis between clinical symptoms and diseases sub-types was done with binary Logistic regression. In addition, the patterns of TCM syndromes were divided by several syndrome factors to analyze the difference in neuroendocrine indices between various patterns and syndrome factors. A total of 383 IBS patients were enrolled, including 353(92.2%) cases of diarrhea, 14(3.7%) cases of constipation and 16(4.1%) cases of mixed types. In IBS-diarrhea patients, there were 291(76.0%), 18(4.7%), 48(12.5%) and 26(6.8%)cases of syndrome of liver depression and spleen deficiency (sLDSD), syndrome of liver depression and qi stagnation (sLDQS), syndrome of dampness-heat in the spleen and stomach (sDHSS), and syndrome of spleen deficiency with dampness encumbrance (sSDDE) respectively. There was significant differences in blood groups between IBS-diarrhea patients, IBS-constipation patients and IBS-mixed types patients; their disease classification was significantly correlated with the allergies, drinking, irregular meals habits, no or less vacations, and other causes of morbidity (P<0.05, f<0.3). A total of 15 symptoms and signs variables (e.g., chills, facial abnormalities, epigastric fullness, etc.) had significant differences between different groups (P<0.05), and 5, 8, 5 variables were respective independent factors for IBS-diarrhea, constipation and mixed type. There was no significant difference in neuroendocrine indices between various groups. The sLDSD, s

Self Concept in People with Williams Syndrome and Prader-Willi Syndrome

ERIC Educational Resources Information Center

Plesa-Skwerer, Daniela; Sullivan, Kate; Joffre, Kristen; Tager-Flusberg, Helen

2004-01-01

This study explored self concepts in matched groups of adolescents and adults with Williams syndrome (WS) and Prader-Willi syndrome (PWS), using Damon and Hart's [Self-understanding in Childhood and Adolescence, Cambridge University Press, New York, 1988] semi-structured interview. The main findings were that the WS participants were more…

Metabolic Syndrome Risk Profiles Among African American Adolescents

PubMed Central

Fitzpatrick, Stephanie L.; Lai, Betty S.; Brancati, Frederick L.; Golden, Sherita H.; Hill-Briggs, Felicia

2013-01-01

OBJECTIVE Although African American adolescents have the highest prevalence of obesity, they have the lowest prevalence of metabolic syndrome across all definitions used in previous research. To address this paradox, we sought to develop a model of the metabolic syndrome specific to African American adolescents. RESEARCH DESIGN AND METHODS Data from the National Health and Nutrition Examination Survey (2003–2010) of 822 nonpregnant, nondiabetic, African American adolescents (45% girls; aged 12 to 17 years) who underwent physical examinations and fasted at least 8 h were analyzed. We conducted a confirmatory factor analysis to model metabolic syndrome and then used latent profile analysis to identify metabolic syndrome risk groups among African American adolescents. We compared the risk groups on probability of prediabetes. RESULTS The best-fitting metabolic syndrome model consisted of waist circumference, fasting insulin, HDL, and systolic blood pressure. We identified three metabolic syndrome risk groups: low, moderate, and high risk (19% boys; 16% girls). Thirty-five percent of both boys and girls in the high-risk groups had prediabetes, a significantly higher prevalence compared with boys and girls in the low-risk groups. Among adolescents with BMI higher than the 85th percentile, 48 and 36% of boys and girls, respectively, were in the high-risk group. CONCLUSIONS Our findings provide a plausible model of the metabolic syndrome specific to African American adolescents. Based on this model, approximately 19 and 16% of African American boys and girls, respectively, are at high risk for having the metabolic syndrome. PMID:23093663

[Pseudo-Bartter syndrome--2 cases].

PubMed

Jóźwiak, Lucyna; Jaroszyński, Andrzej; Baranowicz-Gaszczyk, Iwona; Borowicz, Ewa; Ksiazek, Andrzej

2010-01-01

Bartter syndrome represents the group of renal disturbances characterized by hypokaliemia and metabolic alkalosis. Some diseases could display hypokalemic metabolic alkalosis without primary tubular dysfunction. These disorders are called pseudo-Bartter syndrome. In this paper we present 2 cases of pseudo-Bartter syndrome related among to other things to overuse of diuretic drugs.

The Gin Builder: Examining the Skills Needed for the New Industrial Age.

ERIC Educational Resources Information Center

Kosty, Carlita; Lubar, Steven; Rhar, Bill

2000-01-01

Presents a lesson plan in which students explore the impact of industrialization on agriculture, the experience of William Ellison, a free black cotton gin mechanic, and the skills that Ellison needed. Students discuss handwritten documents, diagrams, and census information related to the cotton gin. Includes a bibliography and four handouts. (CMK)

The Capgras syndrome in paranoid schizophrenia.

PubMed

Silva, J A; Leong, G B

1992-01-01

Capgras syndrome is characterized by a delusion of impostors who are thought to be physically similar but psychologically distinct from the misidentified person. This syndrome is generally thought to be relatively rare. Most of our knowledge about Capgras syndrome derives from single case studies and small series of cases usually from diagnostically heterogeneous groups. In this article, a series of 31 patients suffering from both paranoid schizophrenia and Capgras syndrome is described. Issues pertaining to the phenomenology of Capgras syndrome, the possible relation between Capgras syndrome and other delusional misidentification syndromes, and a neurobiological hypothesis aimed at explaining Capgras syndrome are discussed.

Hand-arm vibration syndrome among a group of construction workers in Malaysia.

PubMed

Su, Ting Anselm; Hoe, Victor Chee Wai; Masilamani, Retneswari; Awang Mahmud, Awang Bulgiba

2011-01-01

To determine the extent of hand transmitted vibration exposure problems, particularly hand-arm vibration syndrome (HAVS), among construction workers in Malaysia. A cross-sectional study was conducted on a construction site in Kuala Lumpur, Malaysia. 243 workers were recruited. Questionnaire interviews and hand examinations were administered to 194 respondents. Vibration magnitudes for concrete breakers, drills and grinders were measured using a 3-axis accelerometer. Clinical outcomes were compared and analysed according to vibration exposure status. Vibration total values for concrete breakers, impact drills and grinders were 10.02 ms(-2), 7.72 ms(-2) and 5.29ms(-2), respectively. The mean 8 h time-weighted hand transmitted vibration exposure, A(8), among subjects on current and previous construction sites was 7.52 (SD 2.68) ms(-2) and 9.21 (SD 2.48) ms(-2), respectively. Finger tingling, finger numbness, musculoskeletal problems of the neck, finger coldness, abnormal Phalen's test and abnormal light touch sensation were significantly more common in the high vibration exposure group (n=139) than the low-moderate vibration exposure group (n=54). Mean total lifetime vibration dose among exposed subjects was 15.2 (SD 3.2) m(2) h(3) s(-4) (ln scale). HAVS prevalence was 18% and the prevalence ratio of stage 1 and higher disease in the high vibration exposure group versus the low-moderate vibration exposure group was 4.86 (95% CI 1.19 to 19.80). Hand transmitted vibration is a recognisable problem in tropical countries including Malaysia. The current study has identified clinical symptoms and signs suggesting HAVS among construction workers exposed to hand transmitted vibration in a warm environment.

Audiological findings in Noonan syndrome.

PubMed

Tokgoz-Yilmaz, Suna; Turkyilmaz, Meral Didem; Cengiz, Filiz Basak; Sjöstrand, Alev Pektas; Kose, Serdal Kenan; Tekin, Mustafa

2016-10-01

The aim of this study was to evaluate audiologic properties of patients with Noonan syndrome and compare these findings with those of unaffected peers. The study included 17 children with Noonan syndrome and 20 typically developing children without Noonan syndrome. Pure tone and speech audiometry, immitancemetric measurement, otoacoustic emissions measurement and auditory brainstem response tests were applied to all (n = 37) children. Hearing thresholds of children with Noonan syndrome were higher (poorer) than those observed unaffected peers, while the hearing sensitivity of the both groups were normal limits (p = 0.013 for right, p = 0.031 for left ear). Transient evoked otoacoustic emissions amplitudes of the children with Noonan syndrome were lower than the children without Noonan syndrome (p = 0.005 for right, p = 0.002 for left ear). Middle ear pressures and auditory brainstem response values were within normal limits and there was no difference between the two groups (p > 0.05). General benefit of the present study is to characterize the audiologic findings of children with Noonan syndrome, which is beneficial in clinics evaluating children with Noonan syndrome. Copyright © 2016 Elsevier Ireland Ltd. All rights reserved.

A cross-syndrome study of the development of holistic face recognition in children with autism, Down syndrome, and Williams syndrome.

PubMed

Annaz, Dagmara; Karmiloff-Smith, Annette; Johnson, Mark H; Thomas, Michael S C

2009-04-01

We report a cross-syndrome comparison of the development of holistic processing in face recognition in school-aged children with developmental disorders: autism, Down syndrome, and Williams syndrome. The autism group was split into two groups: one with high-functioning children and one with low-functioning children. The latter group has rarely been studied in this context. The four disorder groups were compared with typically developing children. Cross-sectional trajectory analyses were used to compare development in a modified version of Tanaka and Farah's part-whole task. Trajectories were constructed linking part-whole performance either to chronological age or to several measures of mental age (receptive vocabulary, visuospatial construction, and the Benton Facial Recognition Test). In addition to variable delays in onset and rate of development, we found an atypical profile in all disorder groups. These profiles were atypical in different ways, indicating multiple pathways to, and variable outcomes in, the development of face recognition. We discuss the implications for theories of face recognition in both atypical and typical development, including the idea that part-whole and rotation manipulations may tap different aspects of holistic and/or configural processing.

A YAC contig spanning the nevoid basal cell carcinoma syndrome, Fanconi anaemia group C, and xeroderma pigmentosum group A loci on chromosome 9q

DOE Office of Scientific and Technical Information (OSTI.GOV)

Morris, D.J.; Reis, A.

1994-09-01

Nevoid basal cell carcinoma syndrome (NBCCS, Gorlin syndrome) is an autosomal dominant disorder, characterized primarily by multiple basal cell carcinomas, epithelium-lined jaw cysts, and palmar and plantar pits, as well as various other features. Loss of heterozygosity studies and linkage analysis have mapped the NBCCS gene to chromosome 9q and suggested that it is a tumor suppressor. The apparent sensitivity of NBCCS patients to UV and X-irradiation raises the possibility of hypersensitivity to DNA-damaging reagents or defective DNA repair being etiological in the disorder. The recent mapping of the Fanconi anaemia group C (FACC) and xeroderma pigmentosum complementing group Amore » (XPAC) genes to the same region on 9q has led us to begin the molecular dissection of the 9q22-q31 region. PCR analysis of the presence or absence of 10 microsatellite markers and exons 3 and 4 of the XPAC and FACC genes, respectively, allowed us to order 12 YACs into an overlapping contig and to order the markers as follows: D9S151/D9S12P1-D9S12P2-D9S197-D9S196-D9S280-FACC-D9S287/XPAC-D9S180-D9S6-D9S176. Sizing of the YACs has provided an initial estimate of the size of the NBCCS candidate region between D9S12 and D9S180 to be less than 1.65 Mb. 45 refs., 1 fig., 1 tab.« less

Biochemical and nutritional markers and antioxidant activity in metabolic syndrome.

PubMed

Bernabé García, Juana; Zafrilla Rentero, Pilar; Mulero Cánovas, Juana; Gómez Jara, Purificación; Leal Hernández, Mariano; Abellán Alemán, José

2014-01-01

1) Nutritional assessment of the diet followed by patients with metabolic syndrome, and 2) biochemical analysis of the oxidation-reduction level in patients with metabolic syndrome. A cross-sectional study was conducted in patients with metabolic syndrome in Murcia. Fifty-three patients, 33 with and 20 without (control group) metabolic syndrome, were selected. The intervention consisted of completion of a recall survey and a test to nutritionally assess dietary intake. Anthropometric and laboratory variables, including those related to antioxidant activity, were also tested. Antioxidant activity was within normal limits in both groups (1.7 ± 0.2 mmol/L in the control group and 1.8 ± 0.1 mmol/L in the metabolic syndrome group) (NS). Superoxide dismutase levels were not significantly different between the groups. Mean glutathione reductase levels (U/L) were higher in the control group as compared to patients with metabolic syndrome (P<.05). As regards oxidative stress biomarkers, mean isoprostane levels were higher in the control group (4.9 ± 6.2 ng/mL) than in metabolic syndrome patients (3.5 ± 3.9 ng/mL) (P<.05). Oxidized LDL values tended to be higher in metabolic syndrome patients (96 ± 23.2U/L) as compared to the control group (86.2 ± 17.3 U/L), but differences were not significant. There is a trend to a poorer nutritional and biochemical profile in patients with metabolic syndrome, who also tend to have a greater degree of oxidative stress. Copyright © 2013 SEEN. Published by Elsevier Espana. All rights reserved.

Lung function in post-poliomyelitis syndrome: a cross-sectional study*

PubMed Central

de Lira, Claudio Andre Barbosa; Minozzo, Fábio Carderelli; Sousa, Bolivar Saldanha; Vancini, Rodrigo Luiz; Andrade, Marília dos Santos; Quadros, Abrahão Augusto Juviniano; Oliveira, Acary Souza Bulle; da Silva, Antonio Carlos

2013-01-01

OBJECTIVE: To compare lung function between patients with post-poliomyelitis syndrome and those with sequelae of paralytic poliomyelitis (without any signs or symptoms of post-poliomyelitis syndrome), as well as between patients with post-poliomyelitis syndrome and healthy controls. METHODS: Twenty-nine male participants were assigned to one of three groups: control; poliomyelitis (comprising patients who had had paralytic poliomyelitis but had not developed post-poliomyelitis syndrome); and post-poliomyelitis syndrome. Volunteers underwent lung function measurements (spirometry and respiratory muscle strength assessment). RESULTS: The results of the spirometric assessment revealed no significant differences among the groups except for an approximately 27% lower mean maximal voluntary ventilation in the post-poliomyelitis syndrome group when compared with the control group (p = 0.0127). Nevertheless, the maximal voluntary ventilation values for the post-poliomyelitis group were compared with those for the Brazilian population and were found to be normal. No significant differences were observed in respiratory muscle strength among the groups. CONCLUSIONS: With the exception of lower maximal voluntary ventilation, there was no significant lung function impairment in outpatients diagnosed with post-poliomyelitis syndrome when compared with healthy subjects and with patients with sequelae of poliomyelitis without post-poliomyelitis syndrome. This is an important clinical finding because it shows that patients with post-poliomyelitis syndrome can have preserved lung function. PMID:24068267

Discriminating Down Syndrome and Fragile X Syndrome Based on Language Ability

ERIC Educational Resources Information Center

Finestack, Lizbeth H.; Sterling, Audra M.; Abbeduto, Leonard

2013-01-01

This study compared the receptive and expressive language profiles of verbally expressive children and adolescents with Down Syndrome (DS) and those with Fragile X syndrome (FXS) and examined the extent to which these profiles reliably differentiate the diagnostic groups. A total of twenty-four verbal participants with DS (mean age: 12 years),…

Streptococcal Toxic Shock syndrome.

PubMed

Krishna, Vidya; Sankaranarayan, Shuba; Sivaraman, Rajakumar Padur; Prabaharan, Krithika

2014-09-01

Streptococcal Toxic Shock syndrome (STSS) is a serious complication caused by exotoxins of Group A Streptococcus (GAS). It presents with fulminant shock and rash, is rapidly progressive with Multi-Organ Dysfunction Syndrome (MODS) and requires aggressive therapy with fluids, antibiotics and source control.

Syndrome by Any Other Name. . .

ERIC Educational Resources Information Center

Bowers, Drew

2008-01-01

The word "syndrome" is one of those words that has slipped into one's vocabulary with few realizing what exactly it means or all the implications it carries. The word "syndrome" can be defined as "a group of signs and symptoms that occur together and characterize a particular abnormality or condition." Typically, a syndrome will be defined by…

Histology of the pharyngeal constrictor muscle in 22q11.2 deletion syndrome and non-syndromic children with velopharyngeal insufficiency.

PubMed

Widdershoven, Josine C C; Spruijt, Nicole E; Spliet, Wim G M; Breugem, Corstiaan C; Kon, Moshe; Mink van der Molen, Aebele B

2011-01-01

Plastic surgeons aim to correct velopharyngeal insufficiency manifest by hypernasal speech with a velopharyngoplasty. The functional outcome has been reported to be worse in patients with 22q11.2 deletion syndrome than in patients without the syndrome. A possible explanation is the hypotonia that is often present as part of the syndrome. To confirm a myogenic component of the etiology of velopharyngeal insufficiency in children with 22q11.2 deletion syndrome, specimens of the pharyngeal constrictor muscle were taken from children with and without the syndrome. Histologic properties were compared between the groups. Specimens from the two groups did not differ regarding the presence of increased perimysial or endomysial space, fiber grouping by size or type, internalized nuclei, the percentage type I fibers, or the diameters of type I and type II fibers. In conclusion, a myogenic component of the etiology of velopharyngeal insufficiency in children with 22q11.2 deletion syndrome could not be confirmed.

Histology of the Pharyngeal Constrictor Muscle in 22q11.2 Deletion Syndrome and Non-Syndromic Children with Velopharyngeal Insufficiency

PubMed Central

Widdershoven, Josine C. C.; Spruijt, Nicole E.; Spliet, Wim G. M.; Breugem, Corstiaan C.; Kon, Moshe; Mink van der Molen, Aebele B.

2011-01-01

Plastic surgeons aim to correct velopharyngeal insufficiency manifest by hypernasal speech with a velopharyngoplasty. The functional outcome has been reported to be worse in patients with 22q11.2 deletion syndrome than in patients without the syndrome. A possible explanation is the hypotonia that is often present as part of the syndrome. To confirm a myogenic component of the etiology of velopharyngeal insufficiency in children with 22q11.2 deletion syndrome, specimens of the pharyngeal constrictor muscle were taken from children with and without the syndrome. Histologic properties were compared between the groups. Specimens from the two groups did not differ regarding the presence of increased perimysial or endomysial space, fiber grouping by size or type, internalized nuclei, the percentage type I fibers, or the diameters of type I and type II fibers. In conclusion, a myogenic component of the etiology of velopharyngeal insufficiency in children with 22q11.2 deletion syndrome could not be confirmed. PMID:21738760

Genetics Home Reference: brain-lung-thyroid syndrome

MedlinePlus

... Twitter Home Health Conditions Brain-lung-thyroid syndrome Brain-lung-thyroid syndrome Printable PDF Open All Close ... Javascript to view the expand/collapse boxes. Description Brain-lung-thyroid syndrome is a group of conditions ...

Characteristics and self-rated health of overlap syndrome.

PubMed

Chung, Jung Wha; Kong, Kyoung Ae; Lee, Jin Hwa; Lee, Seok Jeong; Ryu, Yon Ju; Chang, Jung Hyun

2014-01-01

Overlap syndrome shares features of both asthma and chronic obstructive pulmonary disease (COPD). The aim of this study was to investigate characteristics of overlap syndrome and their effect on self-rated health (SRH). We analyzed data from the Fourth Korea National Health and Nutrition Examination Survey of 2007-2009. Subjects with acceptable spirometry and available wheezing history were included. Subjects were classified into four groups based on forced expiratory volume in one second (FEV1)/forced vital capacity (FVC) results and the presence or absence of self-reported wheezing for the previous 12 months: 1) COPD group, defined as having FEV1/FVC <0.7 without self-reported wheezing history; 2) asthma group, defined as having self-reported wheezing history without FEV1/FVC <0.7; 3) overlap syndrome group, having both FEV1/FVC <0.7 and wheezing history; and 4) non-obstructive disease (NOD) group, having neither FEV1/FVC <0.7 nor self-reported wheezing. SRH was categorized as better or lower based on responses to a questionnaire. From a total 9,104 subjects, 700 were assigned to the COPD group, 560 to the asthma group, 210 to the overlap syndrome group, and 7,634 to the NOD group. Compared to the other groups, subjects in the overlap syndrome group were more likely to have low lung function, a high proportion of smokers, low socioeconomic status, short education duration, lower SRH, and past diagnosis of pulmonary tuberculosis or bronchiectasis. Multiple logistic regression analysis revealed that both overlap syndrome and asthma groups were independently associated with lower SRH after adjustment for age, sex, socioeconomic status, education level, smoking status, comorbidities, and lung function. Female, old age, low education level, low economic status, smoker and other comorbidities were also associated with lower SRH. Overlap syndrome was accompanied by high morbidity and was associated with lower SRH, which needs more appropriate care.

Genetics Home Reference: Tietz syndrome

MedlinePlus

... groups? Genetic Changes Tietz syndrome is caused by mutations in the MITF gene. This gene provides instructions ... development of the retinal pigment epithelium. MITF gene mutations that cause Tietz syndrome either delete or change ...

Molecular defects of the growth hormone receptor gene, including a new mutation, in Laron syndrome patients in Israel: relationship between defects and ethnic groups.

PubMed

Shevah, Orit; Rubinstein, Menachem; Laron, Zvi

2004-10-01

Laron Syndrome, first described in Israel, is a form of dwarfism similar to isolated growth hormone deficiency caused by molecular defects in the GH receptor gene. To characterize the molecular defects of the GH-R in Laron syndrome patients followed in our clinic. Of the 63 patients in the cohort, we investigated 31 patients and 32 relatives belonging to several ethnic origins. Molecular analysis of the GH-R gene was performed using the single strand conformation polymorphism and DNA sequencing techniques. Eleven molecular defects including a novel mutation were found. Twenty-two patients carried mutations in the extracellular domain, one in the transmembrane domain, and 3 siblings with typical Laron syndrome presented a normal GH-R. Of interest are, on one hand, different mutations within the same ethnic groups: W-15X and 5, 6 exon deletion in Jewish-Iraqis, and E180 splice and 5, 6 exon deletion in Jewish-Moroccans; and on the other hand, identical findings in patients from distinct regions: the 785-1 G to T mutation in an Israeli-Druze and a Peruvian patient. A polymorphism in exon 6, Gly168Gly, was found in 15 probands. One typical Laron patient from Greece was heterozygous for R43X in exon 4 and heterozygous for Gly168Gly. In addition, a novel mutation in exon 5: substitution of T to G replacing tyrosine 86 for aspartic acid (Y86D) is described. This study demonstrates: a) an increased focal incidence of Laron syndrome in different ethnic groups from our area with a high incidence of consanguinity; and b) a relationship between molecular defects of the GH-R, ethnic group and geographic area.

Prenatal diagnosis of Bartter syndrome: amniotic fluid aldosterone.

PubMed

Rachid, Myriam; Dreux, Sophie; Pean de Ponfilly, Gauthier; Vargas-Poussou, Rosa; Czerkiewicz, Isabelle; Chevenne, Didier; Oury, Jean-François; Deschênes, Georges; Muller, Françoise

2017-04-01

Bartter syndrome is a severe inherited tubulopathy characterized at birth by salt wasting, severe polyuria, dehydration, growth retardation and secondary hyperaldosteronism. Prenatally, the disease is usually discovered following onset of severe polyhydramnios. We studied amniotic fluid aldosterone concentration in cases of Bartter syndrome and in control groups. Amniotic fluid aldosterone was assayed by radioimmunoassay. We undertook a retrospective case-control study based on 36 cases of postnatally diagnosed Bartter syndrome and 144 controls matched for gestational age. Two controls groups were defined: controls with polyhydramnios (n=72) and control without polyhydramnios (n=72). Amniotic fluid aldosterone was compared between the three groups. The median amniotic fluid aldosterone concentration in the Bartter syndrome group (90 pg/mL) did not differ significantly from that in the controls with polyhydramnios (90 pg/mL, p=0.33) or the controls without polyhydramnios (87 pg/mL, p=0.41). In conclusion, amniotic fluid aldosterone assay cannot be used for prenatal diagnosis of Bartter syndrome.

To compare the efficacy of two kinds of Zhizhu pills in the treatment of functional dyspepsia of spleen-deficiency and qi-stagnation syndrome:a randomized group sequential comparative trial

PubMed Central

2011-01-01

Background In Traditional Chinese Medicine (TCM) theory, functional dyspepsia (FD) can be divided into different syndromes according to different clinical symptoms and signs, and the most common one is spleen-deficiency and qi-stagnation syndrome that can be treated by Chinese traditional patent medicine ---- two kinds of Zhizhu pills, between which the primary difference in ingredients is that one contains immature orange fruit of Citrus aurantium L.(IFCA) and the other contains that of Citrus sinensis Osbeck (IFCS). The trial's objective was to compare the efficacy of two kinds of Zhizhu pills on symptom changes in patients with FD of spleen-deficiency and qi-stagnation syndrome. Methods A randomized, group sequential, double-blinded, multicenter trial was conducted in patients with FD of spleen-deficiency and qi-stagnation syndrome at 3 hospitals in Beijing between June 2003 and May 2005. Participants were randomly allocated into two groups (IFCA group and IFCS group) in a 1:1 ratio, and respectively took one of the two kinds of Zhizhu pills orally, 6 g each time, 3 times a day, for 4 weeks. Statistical analysis was performed with use of a group sequential method, the triangular test (TT). Results A total of 163 patients were randomized, and 3 patients were excluded from analysis because of early dropouts, leaving 160 patients (IFCA group: n = 82; IFCS group: n = 78) for statistical analysis. Three interim analyses were done after 62, 116, and 160 patients had completed their 4-week treatment, respectively. At the third interim analysis, the sample path crossed the upper boundary and the trial was stopped, the cure-markedly effective rates were 45% for IFCS group and 67% for IFCA group, respectively, the one-sided p-value was 0.0036, the median unbiased estimate of the odds ratio (OR) for the benefit of IFCA relative to IFCS was 2.91 with 95%CI: 1.40 to 6.06. No adverse events were observed in the two groups. Conclusions Zhizhu pills containing IFCA was superior

Genetics Home Reference: Winchester syndrome

MedlinePlus

... because Winchester syndrome and MONA are caused by mutations in different genes, they are now thought to ... groups? Genetic Changes Winchester syndrome is caused by mutations in the MMP14 gene (also known as MT1- ...

[Asthenic syndrome in patients with burnout syndrome].

PubMed

Chutko, L S; Surushkina, S Iu; Rozhkova, A V; Nikishena, I S; Iakovenko, E A

2013-01-01

The authors present the results of a survey of 103 patients aged 25 to 45 years with burnout syndrom. The results showed that most patients with the syndrome of burnout have clinical manifestations of asthenia, varying degrees of severity. According to psychological and psychophysiological examination in this group of patients were found attention and memory dysfunction. This study evaluated the efficacy of memoplant in the treatment of this pathology. The high efficiency of memoplant (improvement in 69.7% of cases) was detected, confirmed by the data of the clinical, psychological and neuropsychological research.

[Williams-Beuren syndrome (Williams syndrome). Case report].

PubMed

Miklós, Györgyi; Fekete, György; Haltrich, Irén; Tóth, Miklós; Reismann, Péter

2017-11-01

Williams syndrome is a rare genetic disorder, that occurs equally in all ethnic groups and both sexes. The diagnosis might be missed during childhood in mild cases. However, establishing the diagnosis is important, not only to find the cause of intellectual disability but to look for cardiovascular, endocrine, psychiatry, urology and other conditions, which can occur at any age in the patients' lifetime. This case report presents the story of 47-year-old woman, who was admitted with haematemesis. During her stay on the ward, in the light of the distinctive facial features, mental retardation, and social behaviour patterns, the possibility of Williams syndrome emerged. Later, the diagnosis was confirmed by genetic analysis. This female is the oldest living patient with Williams syndrome in Hungary. Orv Hetil. 2017; 158(47): 1883-1888.

Obstructive sleep apnoea/hypopnoea syndrome in adults with Down syndrome

PubMed Central

2016-01-01

Key points Adults with Down syndrome are predisposed to obstructive sleep apnoea/hypopnoea syndrome (OSAHS) due to overlap between the Down syndrome phenotype and OSAHS risk factors. The prevalence of OSAHS in adults with Down syndrome is estimated at 35–42%. This is up to ten-times higher than in the general adult population. Symptoms of OSAHS, including behavioural and emotional disturbances as well as standard symptoms such as sleepiness, should be monitored as part of regular health surveillance in adults with Down syndrome. There is evidence that the use of continuous positive airway pressure (CPAP) therapy in adults with Down syndrome and comorbid OSAHS can lead to significant improvements in subjective sleepiness, behaviour and cognitive function, though further large-scale trials are required. Educational aims To discuss the relationship between the phenotypic features of Down syndrome and the risk factors for obstructive sleep apnoea/hypopnoea syndrome (OSAHS). To examine the prevalence of OSAHS in adults with Down syndrome. To review recent research into the effectiveness of treatment of OSAHS in adults with Down syndrome using continuous positive airway pressure (CPAP) therapy. Obstructive sleep apnoea/hypopnoea syndrome (OSAHS) is characterised by repeated cycles of upper airway obstruction during sleep, leading to diurnal symptoms. Individuals with Down syndrome are predisposed to OSAHS due to overlap between the Down syndrome phenotype and OSAHS risk factors. Recent large studies using subjective and objective measures estimate that OSAHS affects around 40% of adults with Down syndrome, in contrast to 2–4% of the general adult population. The “double-hit” of comorbid Down syndrome and OSAHS may accelerate cognitive decline in adults with Down syndrome. However, with the appropriate care and support, OSAHS can be treated effectively in this group using continuous positive airway pressure (CPAP) therapy, improving daytime function and behaviour

Obstructive sleep apnoea/hypopnoea syndrome in adults with Down syndrome.

PubMed

Hill, Elizabeth A

2016-12-01

Adults with Down syndrome are predisposed to obstructive sleep apnoea/hypopnoea syndrome (OSAHS) due to overlap between the Down syndrome phenotype and OSAHS risk factors.The prevalence of OSAHS in adults with Down syndrome is estimated at 35-42%. This is up to ten-times higher than in the general adult population.Symptoms of OSAHS, including behavioural and emotional disturbances as well as standard symptoms such as sleepiness, should be monitored as part of regular health surveillance in adults with Down syndrome.There is evidence that the use of continuous positive airway pressure (CPAP) therapy in adults with Down syndrome and comorbid OSAHS can lead to significant improvements in subjective sleepiness, behaviour and cognitive function, though further large-scale trials are required. To discuss the relationship between the phenotypic features of Down syndrome and the risk factors for obstructive sleep apnoea/hypopnoea syndrome (OSAHS).To examine the prevalence of OSAHS in adults with Down syndrome.To review recent research into the effectiveness of treatment of OSAHS in adults with Down syndrome using continuous positive airway pressure (CPAP) therapy. Obstructive sleep apnoea/hypopnoea syndrome (OSAHS) is characterised by repeated cycles of upper airway obstruction during sleep, leading to diurnal symptoms. Individuals with Down syndrome are predisposed to OSAHS due to overlap between the Down syndrome phenotype and OSAHS risk factors. Recent large studies using subjective and objective measures estimate that OSAHS affects around 40% of adults with Down syndrome, in contrast to 2-4% of the general adult population. The "double-hit" of comorbid Down syndrome and OSAHS may accelerate cognitive decline in adults with Down syndrome. However, with the appropriate care and support, OSAHS can be treated effectively in this group using continuous positive airway pressure (CPAP) therapy, improving daytime function and behaviour. Symptoms of OSAHS should be routinely

[Types of dislipidemia in children with metabolic syndrome].

PubMed

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.

The Politics of Adult Education

ERIC Educational Resources Information Center

Ellison, Art

2016-01-01

Art Ellison is longtime advocate for adult education, having managed numerous advocacy campaigns over the past forty years on the state and national levels. Prior to his employment in 1980 as the NH State Director of Adult Education he worked for many years as a high school teacher and as a community organizer. In this article, Ellison offers some…

NSD1 Mutations Are the Major Cause of Sotos Syndrome and Occur in Some Cases of Weaver Syndrome but Are Rare in Other Overgrowth Phenotypes

PubMed Central

Douglas, Jenny; Hanks, Sandra; Temple, I. Karen; Davies, Sally; Murray, Alexandra; Upadhyaya, Meena; Tomkins, Susan; Hughes, Helen E.; Cole, Trevor R. P.; Rahman, Nazneen

2003-01-01

Sotos syndrome is a childhood overgrowth syndrome characterized by a distinctive facial appearance, height and head circumference >97th percentile, advanced bone age, and developmental delay. Weaver syndrome is characterized by the same criteria but has its own distinctive facial gestalt. Recently, a 2.2-Mb chromosome 5q35 microdeletion, encompassing NSD1, was reported as the major cause of Sotos syndrome, with intragenic NSD1 mutations identified in a minority of cases. We evaluated 75 patients with childhood overgrowth, for intragenic mutations and large deletions of NSD1. The series was phenotypically scored into four groups, prior to the molecular analyses: the phenotype in group 1 (n=37) was typical of Sotos syndrome; the phenotype in group 2 (n=13) was Sotos-like but with some atypical features; patients in group 3 (n=7) had Weaver syndrome, and patients in group 4 (n=18) had an overgrowth condition that was neither Sotos nor Weaver syndrome. We detected three deletions and 32 mutations (13 frameshift, 8 nonsense, 2 splice-site, and 9 missense) that are likely to impair NSD1 functions. The truncating mutations were spread throughout NSD1, but there was evidence of clustering of missense mutations in highly conserved functional domains between exons 13 and 23. There was a strong correlation between presence of an NSD1 alteration and clinical phenotype, in that 28 of 37 (76%) patients in group 1 had NSD1 mutations or deletions, whereas none of the patients in group 4 had abnormalities of NSD1. Three patients with Weaver syndrome had NSD1 mutations, all between amino acids 2142 and 2184. We conclude that intragenic mutations of NSD1 are the major cause of Sotos syndrome and account for some Weaver syndrome cases but rarely occur in other childhood overgrowth phenotypes. PMID:12464997

Cognitive and behavioral heterogeneity in genetic syndromes.

PubMed

Pegoraro, Luiz F L; Steiner, Carlos E; Celeri, Eloisa H R V; Banzato, Claudio E M; Dalgalarrondo, Paulo

2014-01-01

this study aimed to investigate the cognitive and behavioral profiles, as well as the psychiatric symptoms and disorders in children with three different genetic syndromes with similar sociocultural and socioeconomic backgrounds. thirty-four children aged 6 to 16 years, with Williams-Beuren syndrome (n=10), Prader-Willi syndrome (n=11), and Fragile X syndrome (n=13) from the outpatient clinics of Child Psychiatry and Medical Genetics Department were cognitively assessed through the Wechsler Intelligence Scale for Children (WISC-III). Afterwards, a full-scale intelligence quotient (IQ), verbal IQ, performance IQ, standard subtest scores, as well as frequency of psychiatric symptoms and disorders were compared among the three syndromes. significant differences were found among the syndromes concerning verbal IQ and verbal and performance subtests. Post-hoc analysis demonstrated that vocabulary and comprehension subtest scores were significantly higher in Williams-Beuren syndrome in comparison with Prader-Willi and Fragile X syndromes, and block design and object assembly scores were significantly higher in Prader-Willi syndrome compared with Williams-Beuren and Fragile X syndromes. Additionally, there were significant differences between the syndromes concerning behavioral features and psychiatric symptoms. The Prader-Willi syndrome group presented a higher frequency of hyperphagia and self-injurious behaviors. The Fragile X syndrome group showed a higher frequency of social interaction deficits; such difference nearly reached statistical significance. the three genetic syndromes exhibited distinctive cognitive, behavioral, and psychiatric patterns. Copyright © 2013 Sociedade Brasileira de Pediatria. Published by Elsevier Editora Ltda. All rights reserved.

Diagnosis of antenatal Bartter syndrome.

PubMed

Narayan, R; Peres, M; Kesby, G

2016-01-01

Bartter syndrome is a rare heterogeneous group of autosomal-recessive salt-losing renal tubular disorders that can present in fetal life (antenatal Bartter syndrome; ABS) as "unexplained" early-onset polyhydramnios, often associated with growth restriction. Prenatal diagnosis of the condition involves assessment of amniotic fluid biochemistry in a setting of polyuric polyhydramnios; with elevated chloride levels considered a consistent and diagnostic finding. Other amniotic fluid biochemical markers have been described, notably increased aldosterone levels, and low total protein levels. NOVEL INSIGHT: Antenatal Bartter syndrome is a heterogeneous group of renal disorders. While certain biochemical features in amniotic fluid might heighten suspicion, final diagnosis can only be made in the postnatal setting. In the setting of unexplained severe polyhydramnios, clinicians should continue to entertain the diagnosis of antenatal Bartter Syndrome and maintain neonatal surveillance, even if amniotic fluid markers do not support the diagnosis.

Association of Amelogenesis Imperfecta and Bartter's Syndrome.

PubMed

Kumar, A C V; Alekya, V; Krishna, M S V V; Alekya, K; Aruna, M; Reddy, M H K; Sangeetha, B; Ram, R; Kumar, V S

2017-01-01

Bartter's syndrome is an autosomal recessive renal tubular disorder characterized by hypokalemia, hypochloremia, metabolic alkalosis, and hyperreninemia with normal blood pressure. Bartter's syndrome is associated with hypercalciuria and nephrocalcinosis. Amelogenesis imperfecta (AI) is a group of hereditary disorders that affect dental enamel. AI could be part of several syndromes. The enamel renal syndrome is the association of AI and nephrocalcinosis. We report two patients of AI with Bartter's syndrome.

Survey of Genes Encoding Staphylococcal Enterotoxins, Toxic Shock Syndrome Toxin 1, and Exfoliative Toxins in Members of the Staphylococcus sciuri Group

PubMed Central

Dakić, Ivana; Vuković, Dragana; Stepanović, Srdjan; Hauschild, Tomasz; Ježek, Petr; Petráš, Petr; Morrison, Donald

2005-01-01

Genes encoding staphylococcal enterotoxins (sea to see, seg, and seh), toxic shock syndrome toxin 1 (tst), and exfoliative toxins (eta and etb) were not detected in a large panel of 48 Staphylococcus sciuri group isolates tested. This strongly suggests that production of the staphylococcal exotoxins by these bacteria is highly unlikely. PMID:16145164

Metabolic syndrome in family practice in Jordan: a study of high-risk groups.

PubMed

Yasein, N; Masa'd, D

2011-12-01

This study assessed the prevalence of the metabolic syndrome, and its components, as defined by Adult Treatment Panel III criteria in Jordanian patients attending a family practice clinic for management of cardiovascular risk factors. The sample was 730 randomly selected patients aged > or = 25 years. The prevalence of metabolic syndrome was 37.4% (31.7% in men; 41.0% in women). The prevalence increased with age in the total sample and in both sexes. High waist circumference showed the highest prevalence in the total sample (61.6%). Among females it ranked as the first criterion (73.5%). High serum triglyceride level showed the highest prevalence in males (50.2%). Differences between the sexes were significant. Family practitioners should be alerted to the importance of multiple risk factors in the metabolic syndrome.

Metabolic syndrome and risk of acute coronary syndromes in patients younger than 45 years of age.

PubMed

Milionis, Haralampos J; Kalantzi, Kallirroi J; Papathanasiou, Athanasios J; Kosovitsas, Athanasios A; Doumas, Michael T; Goudevenos, John A

2007-06-01

There is a paucity of data with regard to the association of the metabolic syndrome with cardiovascular risk in young adults. We investigated the association of the metabolic syndrome with acute coronary syndrome in adults aged 45 years or younger. A total of 136 consecutive patients (128 men and eight women; mean age, 41.2+/-3.7 years) presenting with a first-ever acute coronary syndrome, and 136 age-matched and sex-matched controls were evaluated. The diagnosis of the metabolic syndrome was established according to the Adult Treatment Panel III criteria. The prevalence of the metabolic syndrome was significantly higher in the patients' group compared with the control group (40.4 versus 23.5%; P=0.003). Multivariate logistic regression analysis showed that smoking, positive family history of premature coronary artery disease, and the metabolic syndrome were associated with odds ratios 4.46 (95% confidence interval, 2.30-8.66; P<0.001), 3.11 (95% confidence interval, 1.71-5.66; P<0.001), and 1.97 (95% confidence interval, 1.08-3.56; P=0.02) higher odds, respectively, of having an acute coronary syndrome, after taking into account the matching for age and sex and controlling for potential confounders. Moreover, a 10-mg/dl increase in total cholesterol was associated with 1.06 higher odds of having an acute coronary syndrome. Analysis of interaction showed that smoking and a positive family history of premature coronary artery disease in young individuals with metabolic syndrome had an incremental effect on the odds of suffering an acute coronary syndrome (odds ratio, 7.12; 95% confidence interval, 2.42-20.96; P<0.001). The metabolic syndrome is highly associated with acute coronary syndrome in patients younger than 45 years of age, indicating the need for early and intensive preventive measures.

Red ear syndrome.

PubMed

Purdy, R Allan; Dodick, David W

2007-08-01

The red ear syndrome is a rare syndrome originally described by Lance in 1994. It involves pain in and around the ear and associated autonomic phenomena, the most significant of which is cutaneous erythema of the ear ipsilateral to the pain and obvious to the patient and examiner during the attack. It may well represent an auriculo-autonomic cephalgia and/or be part of the group of disorders recognized as trigeminal autonomic cephalalgias. As a syndrome, it still lacks specificity in regard to etiology, mechanisms, and treatment but is important to recognize clinically because of its associations.

Frequency of the metabolic syndrome in screened South African corporate executives.

PubMed

Ker, J; Rheeder, P; Van Tonder, R

2007-01-01

The aim of the study was to determine the frequency of the metabolic syndrome in a specific group of people. The ATP III criteria were used to identify the metabolic syndrome in a group of 1,410 corporate executives belonging to a specialist health and fitness company in South Africa. Using three criteria as specified by the ATP III panel, 31% of this group of corporate executives fulfilled the criteria for the diagnosis of the metabolic syndrome. In a small subset of black executives, a similar finding was obtained. Another one-third of the executives had two criteria of the metabolic syndrome. The metabolic syndrome was common in a group of corporate executives.

Perceived motor problems in daily life: Focus group interviews with people with Noonan syndrome and their relatives.

PubMed

Croonen, Ellen A; Harmsen, Mirjam; Van der Burgt, Ineke; Draaisma, Jos M; Noordam, Kees; Essink, Marlou; Nijhuis-van der Sanden, Maria W G

2016-09-01

Studies from a patient perspective on motor performance problems in Noonan syndrome in daily life are lacking. The aims of this study were to provide insight into the motor performance problems that people with Noonan syndrome and/or their relatives experienced, the major consequences they suffered, the benefits of interventions they experienced, and the experiences with healthcare professionals they mentioned. We interviewed 10 adults with Noonan syndrome (two were joined by their parent), and 23 mothers (five of whom had Noonan syndrome), nine fathers (one of whom had Noonan syndrome) and one cousin who reported on 28 children with Noonan syndrome. People with Noonan syndrome reported particular problems related to pain, decreased muscle strength, fatigue, and clumsiness, which had an evident impact on functioning in daily life. Most participants believed that problems with motor performance improved with exercise, appropriate physiotherapy guidance, and other supportive interventions. Nevertheless, people with Noonan syndrome and/or their relatives did not feel heard and supported and experienced no understanding of their problems by healthcare professionals. This was the first study from a patient perspective that described the motor performance problems in people with Noonan syndrome, the major consequences in daily life, the positive experiences of interventions and the miscommunication with healthcare professionals. To achieve optimal support, healthcare professionals, as well as people with Noonan syndrome and/or their relatives themselves, should be aware of these frequently presented problems with motor performance. Research on these different aspects is needed to better understand and support people with Noonan syndrome.© 2016 Wiley Periodicals, Inc. © 2016 Wiley Periodicals, Inc.

Group training in interpersonal problem-solving skills for workplace adaptation of adolescents and adults with Asperger syndrome: a preliminary study.

PubMed

Bonete, Saray; Calero, María Dolores; Fernández-Parra, Antonio

2015-05-01

Adults with Asperger syndrome show persistent difficulties in social situations which psychosocial treatments may address. Despite the multiple studies focusing on social skills interventions, only some have focused specifically on problem-solving skills and have not targeted workplace adaptation training in the adult population. This study describes preliminary data from a group format manual-based intervention, the Interpersonal Problem-Solving for Workplace Adaptation Programme, aimed at improving the cognitive and metacognitive process of social problem-solving skills focusing on typical social situations in the workplace based on mediation as the main strategy. A total of 50 adults with Asperger syndrome received the programme and were compared with a control group of typical development. The feasibility and effectiveness of the treatment were explored. Participants were assessed at pre-treatment and post-treatment on a task of social problem-solving skills and two secondary measures of socialisation and work profile using self- and caregiver-report. Using a variety of methods, the results showed that scores were significantly higher at post-treatment in the social problem-solving task and socialisation skills based on reports by parents. Differences in comparison to the control group had decreased after treatment. The treatment was acceptable to families and subject adherence was high. The Interpersonal Problem-Solving for Workplace Adaptation Programme appears to be a feasible training programme. © The Author(s) 2014.

Clinical characteristics of mirror syndrome: a comparison of 10 cases of mirror syndrome with non-mirror syndrome fetal hydrops cases.

PubMed

Hirata, Go; Aoki, Shigeru; Sakamaki, Kentaro; Takahashi, Tsuneo; Hirahara, Fumiki; Ishikawa, Hiroshi

2016-01-01

To investigate clinical features of mirror syndrome. We retrospectively reviewed 71 cases of fetal hydrops with or without mirror syndrome, and compared with respect to maternal age, the body mass index, the primipara rate, the gestational age at delivery, the timing of fetal hydrops onset, the severity of fetal edema, placental swelling, the laboratory data and the fetal mortality. The data are expressed as the medians. Mirror syndrome developed in 29% (10/35) of the cases with fetal hydrops. In mirror group, the onset time of fetal hydrops was significantly earlier (29 weeks versus 31 weeks, p = 0.011), and the severity of fetal hydrops (fetal edema/biparietal diameter) was significantly higher than non-mirror group (0.23 versus 0.16, p < 0.001). There was significantly higher serum human chorionic gonadotropin (hCG) (453,000 IU/L versus 80,000 IU/L, p < 0.001) and lower hemoglobin (8.9 g/dL versus 10.1 g/dL, p =0.002), hypoalbuminemia (2.3 mg/dL versus 2.7 mg/dL, p = 0.007), hyperuricemia (6.4 mg/dL versus 5.0 mg/dL, p = 0.043) in mirror group. Mirror syndrome is occurred frequently in early and severe fetal hydrops and cause hemodilution and elevation of serum hCG.

C-reactive protein and reactive oxygen metabolites in subjects with metabolic syndrome.

PubMed

Kotani, K; Sakane, N

2012-01-01

This cross-sectional study investigated the correlation between diacron reactive oxygen metabolites (d-ROMs) and high-sensitivity C-reactive protein (hs-CRP) in subjects with or without metabolic syndrome. Cardiometabolic risk factors, d-ROMs and hs-CRP were determined in 457 women: 123 with metabolic syndrome and 334 without metabolic syndrome. The correlation between d-ROMs and hs-CRP levels was compared between the two groups. The group with metabolic syndrome had significantly higher d-ROMs and hs-CRP levels than the group without metabolic syndrome. While the d-ROMs level was significantly and positively correlated with the hs-CRP level in both groups, the correlation level between the two groups was significantly different. Multiple linear regression analysis adjusted for other cardiometabolic risk factors also showed significant positive correlation between dROMs and hs-CRP levels in both groups. Subjects with metabolic syndrome may have a closer relationship between inflammation and oxidative stress than subjects without metabolic syndrome, possibly reflecting their increased predisposition to atherosclerosis. Further studies are necessary to confirm the observed relationship.

KIAA1530 Protein Is Recruited by Cockayne Syndrome Complementation Group Protein A (CSA) to Participate in Transcription-coupled Repair (TCR)

PubMed Central

Fei, Jia; Chen, Junjie

2012-01-01

Transcription-coupled repair (TCR) is the major pathway involved in the removal of UV-induced photolesions from the transcribed strand of active genes. Two Cockayne syndrome (CS) complementation group proteins, CSA and CSB, are important for TCR repair. The molecular mechanisms by which CS proteins regulate TCR remain elusive. Here, we report the characterization of KIAA1530, an evolutionarily conserved protein that participates in this pathway through its interaction with CSA and the TFIIH complex. We found that UV irradiation led to the recruitment of KIAA1530 onto chromatin in a CSA-dependent manner. Cells lacking KIAA1530 were highly sensitive to UV irradiation and displayed deficiency in TCR. In addition, KIAA1530 depletion abrogated stability of the CSB protein following UV irradiation. More excitingly, we found that a unique CSA mutant (W361C), which was previously identified in a patient with UVsS syndrome, showed defective KIAA1530 binding and resulted in a failure of recruiting KIAA1530 and stabilizing CSB after UV treatment. Together, our data not only reveal that KIAA1530 is an important player in TCR but also lead to a better understanding of the molecular mechanism underlying UVsS syndrome. PMID:22902626

Prostate-specific antigen lowering effect of metabolic syndrome is influenced by prostate volume.

PubMed

Choi, Woo Suk; Heo, Nam Ju; Paick, Jae-Seung; Son, Hwancheol

2016-04-01

To investigate the influence of metabolic syndrome on prostate-specific antigen levels by considering prostate volume and plasma volume. We retrospectively analyzed 4111 men who underwent routine check-ups including prostate-specific antigen and transrectal ultrasonography. The definition of metabolic syndrome was based on the modified Adult Treatment Panel III criteria. Prostate-specific antigen mass density (prostate-specific antigen × plasma volume / prostate volume) was calculated for adjusting plasma volume and prostate volume. We compared prostate-specific antigen and prostate-specific antigen mass density levels of participants with metabolic syndrome (metabolic syndrome group, n = 1242) and without metabolic syndrome (non-prostate-specific antigen metabolic syndrome group, n = 2869). To evaluate the impact of metabolic syndrome on prostate-specific antigen, linear regression analysis for the natural logarithm of prostate-specific antigen was used. Patients in the metabolic syndrome group had significantly older age (P < 0.001), larger prostate volume (P < 0.001), higher plasma volume (P < 0.001) and lower mean serum prostate-specific antigen (non-metabolic syndrome group vs metabolic syndrome group; 1.22 ± 0.91 vs 1.15 ± 0.76 ng/mL, P = 0.006). Prostate-specific antigen mass density in the metabolic syndrome group was still significantly lower than that in the metabolic syndrome group (0.124 ± 0.084 vs 0.115 ± 0.071 μg/mL, P = 0.001). After adjusting for age, prostate volume and plasma volume using linear regression model, the presence of metabolic syndrome was a significant independent factor for lower prostate-specific antigen (prostate-specific antigen decrease by 4.1%, P = 0.046). Prostate-specific antigen levels in patients with metabolic syndrome seem to be lower, and this finding might be affected by the prostate volume. © 2016 The Japanese Urological Association.

Cognitive, Environmental, and Linguistic Predictors of Syntax in Fragile X Syndrome and Down Syndrome

ERIC Educational Resources Information Center

Estigarribia, Bruno; Martin, Gary E.; Roberts, Joanne E.

2012-01-01

Purpose: To examine which cognitive, environmental, and speech-language variables predict expressive syntax in boys with fragile X syndrome (FXS), boys with Down syndrome (DS), and typically developing (TD) boys, and whether predictive relationships differed by group. Method: We obtained Index of Productive Syntax ( Scarborough, 1990) scores for…

Streptococcal toxic shock syndrome secondary to group A Streptococcus vaginitis.

PubMed

Hikone, Mayu; Kobayashi, Ken-Ichiro; Washino, Takuya; Ota, Masayuki; Sakamoto, Naoya; Iwabuchi, Sentaro; Ohnishi, Kenji

2015-12-01

Streptococcal toxic shock syndrome (TSS) is a systemic illness usually caused in the setting of infection by group A Streptococcus (GAS). The primary infections are often invasive infections of the respiratory tract or necrotizing infections of the skin and soft tissue, but some infections occur without relevant focus. GAS vaginitis is a rare condition among adult women and is accordingly thought to be uncommon as a cause of streptococcal TSS. Here we report the cases of two postmenopausal women with streptococcal TSS secondary to GAS vaginitis, one aged 55 and one aged 60. Both came to our emergency department with complaints or symptoms of abdominal pain, fever, hypotension, and multi-organ failure. In both cases, the relevant factor associated with streptococcal infection was a recent episode of GAS vaginitis. Both underwent fluid management and 14 days of antibiotic treatment and fully recovered without complications. Vaginitis was likely to be the primary infectious trigger of TSS in these two cases. Intrauterine device insertion, endometrial biopsy, and post-partum state have all been previously reported in TSS patients, and the female genital tract has been described as a portal of entry. GAS vaginitis warrants appropriate treatment as it may progress to severe systemic infection as described. Copyright © 2015 Japanese Society of Chemotherapy and The Japanese Association for Infectious Diseases. Published by Elsevier Ltd. All rights reserved.

[Therapeutic efficacy of modified zigui decoction in treatment of polycystic ovary syndrome of gan-shen yin deficiency syndrome].

PubMed

Li, Xiao-ping; Lin, Shu; Ye, Shuang

2011-08-01

To study the therapeutic efficacy of Modified Zigui Decoction (MZD) in treatment of polycystic ovary syndrome of Gan-Shen yin deficiency syndrome. 66 polycystic ovary syndrome patients of Gan-Shen yin deficiency syndrome were randomly assigned to the MZD group (Group A) and the Westem medicine group (Group B), 33 patients in each. Patients in Group A orally took MZD, while those in Group B orally took Diane-35. Their menstrual cycle rate, basal body temperature (BBT), the ovarian size, the number of follicles, and changes of endocrine hormones were observed before treatment, the first menstrual cycle, and the sixth menstrual cycle after treatment. (1) The normal rate of one menstrual cycle after stopping taking medicine was 57.58% in Group A and 63.64% in Group B. There was no statistical difference between the two groups (P>0.05). The normal rate of six menstrual cycles after stopping taking medicine was 45. 45% in Group A and 21.21% in Group B. The former was superior to the latter, showing statistical difference (P<0.05). (2) The biphasic BBT rates of one menstrual cycle after stopping taking medicine were somewhat elevated in the two groups, better than before treatment respectively (P<0.01). But there was no statistical difference between the two groups (P>0.05). The biphasic BBT rate of six menstrual cycles after stopping taking medicine was 45.45% in Group A and 18.18% in Group B. The former was superior to the latter, showing statistical difference (P<0.05). (3) The bilateral ovarian volume of one menstrual cycle after stopping taking medicine was obviously reduced in both groups (P<0.01). The bilateral ovarian volume of six menstrual cycles after stopping taking medicine was still more reduced than before treatment in Group A (P<0.01), while it returned to the size of before treatment in Group B (P>0.05). (4) The number of follicles of one menstrual cycle after stopping taking medicine was obviously reduced in both groups (P<0.01). The number of follicles

Formant Amplitude of Children with Down's Syndrome.

ERIC Educational Resources Information Center

Pentz, Arthur L., Jr.

1987-01-01

The sustained vowel sounds of 14 noninstitutionalized 7- to 10-year-old children with Down's syndrome were analyzed acoustically for vowel formant amplitude levels. The subjects with Down's syndrome had formant amplitude intensity levels significantly lower than those of a similar group of speakers without Down's syndrome. (Author/DB)

Abnormal serum IgG subclass pattern in children with Down's syndrome.

PubMed

Annerén, G; Magnusson, C G; Lilja, G; Nordvall, S L

1992-05-01

Susceptibility to infections is a well known feature of Down's syndrome. The possible relation between this predisposition and the serum concentrations of the IgG subclasses was studied in 38 children with Down's syndrome aged 1-12 years. An age matched group of 50 healthy children served as controls. The serum concentrations of IgG1 and IgG3 were significantly raised among children with Down's syndrome in all three age groups studied (that is 1-2.5, 4-8, and 9-12 years). The serum concentrations of IgG2 were normal in the first two groups but significantly reduced in the third age group. In contrast, the concentrations of IgG4 among children with Down's syndrome were significantly reduced in all three age groups. Moreover, among the children with Down's syndrome aged 4-12 years 68% (15/22) had IgG4 concentrations below 2 SDs of the geometrical mean of the controls. The results may partially explain the proneness of children with Down's syndrome to infections with encapsulated bacteria. Although the underlying cause of these abnormalities is unknown, IgG subclass determination seems relevant in the clinical evaluation of children with Down's syndrome.

Comparison of childhood myelodysplastic syndrome, AML FAB M6 or M7, CCG 2891: report from the Children's Oncology Group.

PubMed

Barnard, Dorothy R; Alonzo, Todd A; Gerbing, Robert B; Lange, Beverly; Woods, William G

2007-07-01

Myelodysplastic syndromes (MDS), acute erythroleukemia (FAB M6), and acute megakaryocytic leukemia (FAB M7) have overlapping features. Children without Down syndrome or acute promyelocytic leukemia who were newly diagnosed with primary myelodysplastic syndrome or acute myeloid leukemia (AML) M6 or M7 were compared to children with de novo AML M0-M5. All children were entered on the Children's Cancer Group therapeutic research study CCG 2891. The presentation and outcomes of the 132 children diagnosed with MDS (60 children), AML FAB M6 (19 children), or AML FAB M7 (53 children) were similar. Children with AML FAB M7 were diagnosed at a significantly younger age (P = 0.001). Children with MDS, M6, or M7 had significantly lower white blood cell (WBC) counts (P = 0.001), lower peripheral blast counts (P < 0.001), and an increased frequency of -7/7q- (P = 0.003) at presentation. All three groups had significantly inferior overall survival (OS) (P < 0.001) and event free survival (P < 0.001) compared with the 748 children diagnosed with AML FAB M0-M5 when assessed from entry on study. This poor survival was largely attributable to induction death and failure. However, when assessed from successful completion of induction therapy, the 5-year OS (P = 0.090)(49.1 vs. 56.9%) and disease-free survival (DFS) (P = 0.113)(38.0 vs. 46.3%) therapy were not significantly different from other children with AML. Childhood AML FAB M6 and AML M7 resemble MDS in presentation, poor induction success rates, and outcomes.

Perinatal features of the RASopathies: Noonan syndrome, cardiofaciocutaneous syndrome and Costello syndrome.

PubMed

Myers, Angela; Bernstein, Jonathan A; Brennan, Marie-Luise; Curry, Cynthia; Esplin, Edward D; Fisher, Jamie; Homeyer, Margaret; Manning, Melanie A; Muller, Eric A; Niemi, Anna-Kaisa; Seaver, Laurie H; Hintz, Susan R; Hudgins, Louanne

2014-11-01

The RASopathies are a family of developmental disorders caused by heritable defects of the RAS/MAPK signaling pathway. While the postnatal presentation of this group of disorders is well known, the prenatal and neonatal findings are less widely recognized. We report on the perinatal presentation of 10 patients with Noonan syndrome (NS), nine with Cardiofaciocutaneous syndrome (CFCS) and three with Costello syndrome (CS), in conjunction with the results of a comprehensive literature review. The majority of perinatal findings in NS, CS, and CFCS are shared: polyhydramnios; prematurity; lymphatic dysplasia; macrosomia; relative macrocephaly; respiratory distress; hypotonia, as well as cardiac and renal anomalies. In contrast, fetal arrhythmia and neonatal hypoglycemia are relatively specific to CS. NS, CS, and CFCS should all be considered as a possible diagnosis in pregnancies with a normal karyotype and ultrasound findings of a RASopathy. Recognition of the common perinatal findings of these disorders should facilitate both their prenatal and neonatal diagnosis. © 2014 Wiley Periodicals, Inc.

Congenital Abnormalities and Acute Leukemia among Children with Down Syndrome: A Children’s Oncology Group Study

PubMed Central

Linabery, Amy M.; Blair, Cindy K.; Gamis, Alan S.; Olshan, Andrew F.; Heerema, Nyla A.; Ross, Julie A.

2008-01-01

Children with Down syndrome, due to their heightened risk of leukemia and increased prevalence of congenital abnormalities, comprise a valuable population in which to study etiology. A Children’s Oncology Group study investigated the causes of childhood leukemia in children with Down syndrome diagnosed at ages 0 to 19 years during the period 1997–2002. Telephone interviews were completed with mothers of 158 cases [n = 97 acute lymphoblastic leukemia (ALL) and n = 61 acute myeloid leukemia (AML)] and 173 controls. Odds ratios (OR) and 95% confidence intervals (95% CI) were computed via unconditional logistic regression to evaluate the association between congenital abnormalities and acute leukemia overall, and ALL and AML analyzed separately. The results do not provide evidence for an association among the index children (ORCombined, 0.74; 95% CI, 0.45–1.23; ORALL, 0.67; 95% CI, 0.38–1.20; ORAML,1.03; 95% CI, 0.49–2.16) or their siblings (ORCombined, 1.23; 95% CI, 0.71–2.13; ORALL, 1.12; 95% CI, 0.60–2.09; ORAML, 1.60; 95% CI, 0.66–3.86), suggesting congenital malformations do not confer additional risk of leukemia beyond the risk attributable to trisomy 21 in this population. PMID:18829445

[Psychopharmacology and metabolic syndrome].

PubMed

Telles-Correia, Diogo; Guerreiro, Diogo F; Coentre, Ricardo; Coentre, Rui; Góis, C; Figueira, Luísa

2008-01-01

Metabolic Syndrome consists in a group of metabolic changes, being the most important problem insulin resistence. Other important components of this syndrome are abdominal obesity, hypertension and hyperlipidemia /hypercholestrolemia. It was demonstrated that psychiatric patients have a greater risk to develop metabolic syndrome with a prevalence of 41%. Prevalence of this syndrome in psychiatric male patients is 138% higher than in general population and in female patients 251% higher. Some of the factors that can explain this increase of metabolic risk in psychiatric patients are psychiatric drugs. We preformed a systematic review of literature published until June, 2007, by means of MEDLINE. Studies reviewed include clinical cases, reviews, analytic and observational studies. We selected 72 articles. Authors pretend to understand the mechanisms, by which, different psychiatric drugs can influence metabolic syndrome, and strategies for prevention of this situation.

Long-term consequences for offspring of paternal diabetes and metabolic syndrome.

PubMed

Linares Segovia, Benigno; Gutiérrez Tinoco, Maximiliano; Izquierdo Arrizon, Angeles; Guízar Mendoza, Juan Manuel; Amador Licona, Norma

2012-01-01

Recent studies have reported an increase in the prevalence of obesity and metabolic syndrome in children and adolescents. However, few have focused how diabetes mellitus and metabolic syndrome together in parents can influence on obesity and metabolic disturbances in offspring. To know the risk obesity and metabolic disturbance in children, adolescents, and young adults whose parents have diabetes mellitus and metabolic syndrome. A comparative survey was made in healthy children of parents with diabetes mellitus and metabolic syndrome compared with offspring of healthy parents. We performed anthropometry and evaluated blood pressure, glucose, total cholesterol, HDL cholesterol, and triglycerides levels in plasma. We registered parent antecedents to diabetes mellitus and metabolic syndrome and investigated the prevalence of overweight, obesity, and metabolic disturbances in offspring. We studied 259 subjects of 7 to 20 years of age. The prevalence of overweight and obesity was 27% and 37%, respectively. The highest proportion of BMI >95th of the entire group was found in offspring with both diabetic parents. Glucose and total cholesterol levels were lower in the group with healthy parents compared with the group with diabetic mother and metabolic syndrome but with healthy father. HDL cholesterol was higher in the group with both healthy parents than in the group with diabetic mother and metabolic syndrome but healthy father. The offspring of parents with diabetes plus metabolic syndrome showed higher proportion of variables related to metabolic syndrome compared with healthy parents.

Hypogonadism Makes Dyslipidemia in Klinefelter's Syndrome.

PubMed

Lee, Hyo Serk; Park, Chan Woo; Lee, Joong Shik; Seo, Ju Tae

2017-11-01

Klinefelter's syndrome (KS) is a genetic syndrome that presents with hypogonadism and is associated with metabolic syndrome. Patients demonstrating hypogonadism show a greater prevalence of metabolic syndrome due to changes in body composition. We aimed to determine the association between KS and dyslipidemia. The KS group comprised 55 patients who visited the infertility clinic for an infertility evaluation and were confirmed as having a diagnosis of KS. The control group comprised 120 patients who visited the clinic for health screening. Patient characteristics were compared between the two groups with respect to height, weight, body mass index (BMI), testosterone, total cholesterol, high-density lipoprotein (HDL) cholesterol, low-density lipoprotein (LDL) cholesterol, and triglyceride (TG) levels. Height and weight were significantly greater in patients belonging to the KS group, but no statistically significant difference was found with respect to the BMI. Testosterone levels in patients belonging to the KS group were significantly lower compared to the control group (2.4 ± 2.6 vs. 5.2 ± 1.8 ng/mL, P < 0.001). Compared to the control group, TG levels in patients belonging to the KS group were increased (134.9 ± 127.8 vs. 187.9 ± 192.1 mg/dL, P = 0.004) and HDL cholesterol was significantly decreased (51.2 ± 22.0 vs. 44.0 ± 9.5 mg/dL, P = 0.009). LDL cholesterol and total cholesterol were not significantly different between the two groups (P = 0.076 and P = 0.256, respectively). Significant differences were noted between patients belonging to the KS group and normal control group with respect to elevated TG and decreased HDL cholesterol levels. © 2017 The Korean Academy of Medical Sciences.

Tactile Sensitivity in Asperger Syndrome

ERIC Educational Resources Information Center

Blakemore, Sarah-Jayne; Tavassoli, Teresa; Calo, Susana; Thomas, Richard M.; Catmur, Caroline; Frith, Uta; Haggard, Patrick

2006-01-01

People with autism and Asperger syndrome are anecdotally said to be hypersensitive to touch. In two experiments, we measured tactile thresholds and suprathreshold tactile sensitivity in a group of adults with Asperger syndrome. In the first experiment, tactile perceptual thresholds were measured. Two frequencies of vibrotactile stimulation were…

Genetics Home Reference: Li-Fraumeni syndrome

MedlinePlus

... are some genetic conditions more common in particular ethnic groups? Genetic Changes The CHEK2 and TP53 genes are associated with Li-Fraumeni syndrome . More than half of all families with Li-Fraumeni syndrome have inherited mutations in ...

Effects of kinesio taping and hot packs on premenstrual syndrome in females.

PubMed

Choi, Jung-Hyun

2017-09-01

[Purpose] This study aimed to evaluate the effects of taping and hot packs on premenstrual syndrome, in an attempt to generate basic data for physical therapy intervention for premenstrual syndrome. [Subjects and Methods] Thirty-two females in their 20s with premenstrual syndrome were randomly assigned to a taping group (n=10), hot pack group (n=11), and taping with hot pack group (n=11). Premenstrual syndrome was assessed using the Menstrual Distress Questionnaire in each participant prior to intervention and was re-assessed after applying kinesio taping and/or hot pack from 10 days before the estimated date of menstruation until the first day of menstruation. [Results] Data revealed that the taping and taping with hot pack groups showed significantly reduced premenstrual syndrome following intervention. In terms of the differences in the Menstrual Distress Questionnaire total score among the groups, the taping with hot pack and hot pack groups showed a significant difference. [Conclusion] These findings indicate that kinesio taping is an easy, non-drug intervention for female college students with premenstrual syndrome.

Effects of kinesio taping and hot packs on premenstrual syndrome in females

PubMed Central

Choi, Jung-Hyun

2017-01-01

[Purpose] This study aimed to evaluate the effects of taping and hot packs on premenstrual syndrome, in an attempt to generate basic data for physical therapy intervention for premenstrual syndrome. [Subjects and Methods] Thirty-two females in their 20s with premenstrual syndrome were randomly assigned to a taping group (n=10), hot pack group (n=11), and taping with hot pack group (n=11). Premenstrual syndrome was assessed using the Menstrual Distress Questionnaire in each participant prior to intervention and was re-assessed after applying kinesio taping and/or hot pack from 10 days before the estimated date of menstruation until the first day of menstruation. [Results] Data revealed that the taping and taping with hot pack groups showed significantly reduced premenstrual syndrome following intervention. In terms of the differences in the Menstrual Distress Questionnaire total score among the groups, the taping with hot pack and hot pack groups showed a significant difference. [Conclusion] These findings indicate that kinesio taping is an easy, non-drug intervention for female college students with premenstrual syndrome. PMID:28931978

Does Alport syndrome affect the basement membrane of peritoneal vessels?

PubMed

Sampimon, Denise E; Vlijm, Anniek; Struijk, Dirk G; Krediet, Raymond T

2010-01-01

Alport syndrome and encapsulating peritoneal sclerosis (EPS) are both rare diseases. Their joint occurrence is highly unlikely. Two patients at our center with Alport syndrome developed EPS. We therefore hypothesized that Alport syndrome might predispose to the development of EPS and that this predisposition might be reflected in a fast peritoneal transport rate at baseline. We compared the mass transfer area coefficient (MTAC) of creatinine and the clearances of albumin, immunoglobulin G, and alpha2-macroglobulin at baseline and for all subsequent available measurements in four patient groups: EPS patients with Alport syndrome, EPS patients without Alport syndrome, Alport patients without EPS, and long-term peritoneal dialysis (PD) patients without EPS. The transport characteristics were obtained during a standard peritoneal permeability analysis. Between July 1995 and December 2008, 5 of 417 PD patients treated at our center had Alport syndrome as their primary kidney disease, and 13 of the 417 developed EPS. Of those 13 EPS patients, 2 had Alport syndrome. We observed no differences in the baseline transport characteristics of the four groups under consideration. Taking all measures of transport characteristics into account, only the MTAC of creatinine was higher in the two EPS groups than in the other two groups (p = 0.01). We could not confirm our hypothesis that Alport syndrome affects peritoneal solute clearances.

Parenting of children with Down syndrome compared to fragile X syndrome.

PubMed

Sterling, Audra; Warren, Steven F

2018-01-01

Children with Down syndrome (DS) and fragile X syndrome (FXS) struggle with language development. Parenting variables, such as responsiveness to children's communication attempts (Maternal Responsivity), and techniques used to support and teach appropriate behavior (Behavior Management) are known to have a significant impact on early child development. We examined these two aspects of parenting style via coded, videotaped parent-child interactions in two groups of participants matched on child age (2-5 years) and child expressive language level: mothers of children with DS and mothers of children with FXS. The mothers differed in their use of gestures and redirecting the child's attention. Overall, mothers in both groups of children appeared to adapt appropriately to their children's developmental needs.

Abnormal serum IgG subclass pattern in children with Down's syndrome.

PubMed Central

Annerén, G; Magnusson, C G; Lilja, G; Nordvall, S L

1992-01-01

Susceptibility to infections is a well known feature of Down's syndrome. The possible relation between this predisposition and the serum concentrations of the IgG subclasses was studied in 38 children with Down's syndrome aged 1-12 years. An age matched group of 50 healthy children served as controls. The serum concentrations of IgG1 and IgG3 were significantly raised among children with Down's syndrome in all three age groups studied (that is 1-2.5, 4-8, and 9-12 years). The serum concentrations of IgG2 were normal in the first two groups but significantly reduced in the third age group. In contrast, the concentrations of IgG4 among children with Down's syndrome were significantly reduced in all three age groups. Moreover, among the children with Down's syndrome aged 4-12 years 68% (15/22) had IgG4 concentrations below 2 SDs of the geometrical mean of the controls. The results may partially explain the proneness of children with Down's syndrome to infections with encapsulated bacteria. Although the underlying cause of these abnormalities is unknown, IgG subclass determination seems relevant in the clinical evaluation of children with Down's syndrome. PMID:1534650

Alice in Wonderland Syndrome, Burning Mouth Syndrome, Cold Stimulus Headache, and HaNDL: Narrative Review.

PubMed

Valença, Marcelo M; de Oliveira, Daniella A; Martins, Hugo André de L

2015-10-01

Unusual headache syndromes are not as infrequent in clinical practice as was generally believed. About three fourths of the classified headache disorders found in the ICHD-II can be considered rare. The aim of this narrative review was to perform a literature review of the pathophysiology, clinical presentation, diagnostic criteria, and treatment of the following unusual headache disorders: Alice in Wonderland syndrome, burning mouth syndrome, cold stimulus headache, and the syndrome of transient headache and neurologic deficits with cerebrospinal fluid lymphocytosis. A literature review was performed using PubMed for each of the abovementioned headache disorders. The unusual headache syndromes as a distinct group of disorders are not as infrequent in clinical practice as was generally believed. Some of them, albeit considered as unusual, may occur with relative frequency, such as cold stimulus headache and burning mouth syndrome. © 2015 American Headache Society.

Carpal tunnel syndrome and work organisation in repetitive work: a cross sectional study in France. Study Group on Repetitive Work

PubMed Central

Leclerc, A.; Franchi, P.; Cristofari, M. F.; Delemotte, B.; Mereau, P.; Teyssier-Cotte, C.; Touranchet, A.

1998-01-01

OBJECTIVES: To study the determinants of signs of carpal tunnel syndrome (CTS) in repetitive industrial work, with special attention to occupational constraints at group level and management practices of the companies. METHOD: A cross sectional study was conducted in three sectors: assembly line; clothing and shoe industry; food industry. A total of 1210 workers in repetitive work, from 53 different companies, was compared with a control group of 337 workers. Constraints at the workplace were partly self declared, and partly assessed by the occupational physicians in charge of the employees of the company. The definition of CTS was based on a standardised clinical examination. RESULTS: CTS was associated with repetitive work, especially packaging. It was more frequent among subjects who declared psychological and psychosomatic problems and those with a body mass index > or = 27. Dissatisfaction with work, lack of job control, short cycle time, and having to press repeatedly with the hand were associated with the syndrome. An odds ratio (OR) of 2.24 was found for "just in time" production. CONCLUSION: The results emphasise the complexity of the determinants of CTS, the role of psychosocial factors at work and the potentially negative effects of some practices of the companies aimed at enhancing their competitiveness.   PMID:9624269

Behavioral Phenotype of Fragile X Syndrome in Adolescence and Adulthood

PubMed Central

Smith, Leann E.; Barker, Erin T.; Seltzer, Marsha Mailick; Abbeduto, Leonard; Greenberg, Jan S.

2012-01-01

The present study explored the behavioral profile of individuals with fragile X syndrome during adolescence and adulthood. Individuals with both fragile X syndrome and autism (n = 30) were compared with (a) individuals diagnosed with fragile X syndrome (but not autism; n = 106) and (b) individuals diagnosed with autism (but not fragile X syndrome; n = 135) on measures of autism symptoms, adaptive functioning, behavior problems, and psychological symptoms. Results indicated that individuals dually diagnosed with fragile X syndrome and autism displayed greater communication and social reciprocity impairments than individuals with fragile X syndrome only. Individuals in the dually diagnosed group also exhibited higher levels of repetitive and challenging behaviors than either comparison group, suggesting a unique profile of vulnerability for those diagnosed with both fragile X syndrome and autism. PMID:22264109

Comparing the broad socio-cognitive profile of youth with Williams syndrome and 22q11.2 deletion syndrome.

PubMed

Weisman, O; Feldman, R; Burg-Malki, M; Keren, M; Geva, R; Diesendruck, G; Gothelf, D

2017-12-01

Numerous studies have assessed the socio-cognitive profile in Williams syndrome (WS) and, independently, in 22q11.2 deletion syndrome (22q11.2DS). Yet, a cross-syndrome comparison of these abilities between individuals with these two syndromes with known social deficits has not been conducted. Eighty-two children participated in four study groups: WS (n = 18), 22q112.DS (n = 24), age-matched individuals with idiopathic developmental disability (IDD; n = 20) and typically developing (TD) controls (n = 20). Participants completed four socio-cognitive tests: facial emotion recognition, mental state attribution, differentiating real from apparent emotions and trait inference based on motives and actions-outcomes. The current findings demonstrate that children with WS were better in labelling happy faces compared with children with 22q11.2DS, partially reflecting their exaggerated social drive. In the false belief task, however, the WS and IDD groups performed poorly compared with the 22q11.2DS group, possibly due to their difficulty to interpret subtle social cues. When asked to identify the gap between real-negative vs. apparent-positive emotions, the 22q11.2DS group performed similarly to TD children but better than the WS group, possibly due to their anxious personality and their innate bias towards negatively valence cues. Finally, individuals with WS were more willing to become friends with a story character even when the character's motives were negative, reflecting their difficulty to avoid potentially harmful real-life situations. Overall, our multi-facet socio-cognitive battery uncovered strengths and weaknesses in social cognition that are syndrome-specific, shared among the genetic syndromes, or common to the three clinical groups compared with healthy controls. Our findings underscore the need to devise age-specific and condition-specific assessment tools and intervention programs towards improving these children's socio-cognitive deficits. © 2017

Estradiol to testosterone ratio in metabolic syndrome men aged started 40 years above

NASA Astrophysics Data System (ADS)

Kusuma, R.; Siregar, Y.; Mardianto

2018-03-01

Disruption of adipose tissue, an endocrine organ, could turn out into the so-called metabolic syndrome. Aging men with lowering testosterone were related to metabolic syndrome and excessive aromatase activity in adipose tissue would increase estradiol level. This study hypothesized that estradiol to testosterone ratio is increasedin aging, metabolic syndrome men. A total of 52 men were randomly recruited for this study. A blood samplewas drawn before 11.00 AM after 10 hoursof overnight fasting, then aliquot serum kept in -20°C pending the research. Subjects were divided evenly into the metabolic syndrome and nonmetabolicsyndrome group. The hormonal assaywas measured on the day of research. Then examined with student t-test. Estradiol level in metabolic syndrome group was increased, but insignificant differ to the other group. Testosterone level decreased and significantly different between groups. In conclusion, estradiol to testosterone ratio was increased in themetabolic syndrome group but insignificant.

Gait Development during Lifespan in Subjects with Down Syndrome

ERIC Educational Resources Information Center

Rigoldi, Chiara; Galli, Manuela; Albertini, Giorgio

2011-01-01

In this work we studied and evaluated the effects of aging in a group of individuals with Down syndrome, using gait analysis as tool of investigation. 32 individuals suffering from Down syndrome (DS) were enrolled in this study as group of pathological participants. The control group (CG) was composed by 36 healthy subjects (10 children, 15…

Major Depression in a Small Group of Adults with Down Syndrome.

ERIC Educational Resources Information Center

Myers, Beverly A.; Pueschel, Siegfried M.

1995-01-01

The clinical histories and treatment of 9 individuals with Down syndrome and major depression are presented, as are clinical characteristics of an additional 13 individuals. Vegetative symptoms of disinterest, withdrawal, mutism, psychomotor retardation, decreased appetite, and insomnia were prominent. Preoccupations with suicide, death,…

Atypical development of configural face recognition in children with autism, Down syndrome and Williams syndrome.

PubMed

Dimitriou, D; Leonard, H C; Karmiloff-Smith, A; Johnson, M H; Thomas, M S C

2015-05-01

Configural processing in face recognition is a sensitivity to the spacing between facial features. It has been argued both that its presence represents a high level of expertise in face recognition, and also that it is a developmentally vulnerable process. We report a cross-syndrome investigation of the development of configural face recognition in school-aged children with autism, Down syndrome and Williams syndrome compared with a typically developing comparison group. Cross-sectional trajectory analyses were used to compare configural and featural face recognition utilising the 'Jane faces' task. Trajectories were constructed linking featural and configural performance either to chronological age or to different measures of mental age (receptive vocabulary, visuospatial construction), as well as the Benton face recognition task. An emergent inversion effect across age for detecting configural but not featural changes in faces was established as the marker of typical development. Children from clinical groups displayed atypical profiles that differed across all groups. We discuss the implications for the nature of face processing within the respective developmental disorders, and how the cross-sectional syndrome comparison informs the constraints that shape the typical development of face recognition. © 2014 MENCAP and International Association of the Scientific Study of Intellectual and Developmental Disabilities and John Wiley & Sons Ltd.

Cross-syndrome comparison of real-world executive functioning and problem solving using a new problem-solving questionnaire.

PubMed

Camp, Joanne S; Karmiloff-Smith, Annette; Thomas, Michael S C; Farran, Emily K

2016-12-01

Individuals with neurodevelopmental disorders like Williams syndrome and Down syndrome exhibit executive function impairments on experimental tasks (Lanfranchi, Jerman, Dal Pont, Alberti, & Vianello, 2010; Menghini, Addona, Costanzo, & Vicari, 2010), but the way that they use executive functioning for problem solving in everyday life has not hitherto been explored. The study aim is to understand cross-syndrome characteristics of everyday executive functioning and problem solving. Parents/carers of individuals with Williams syndrome (n=47) or Down syndrome (n=31) of a similar chronological age (m=17 years 4 months and 18 years respectively) as well as those of a group of younger typically developing children (n=34; m=8years 3 months) completed two questionnaires: the Behavior Rating Inventory of Executive Function (BRIEF; Gioia, Isquith, Guy, & Kenworthy, 2000) and a novel Problem-Solving Questionnaire. The rated likelihood of reaching a solution in a problem solving situation was lower for both syndromic groups than the typical group, and lower still for the Williams syndrome group than the Down syndrome group. The proportion of group members meeting the criterion for clinical significance on the BRIEF was also highest for the Williams syndrome group. While changing response, avoiding losing focus and maintaining perseverance were important for problem-solving success in all groups, asking for help and avoiding becoming emotional were also important for the Down syndrome and Williams syndrome groups respectively. Keeping possessions in order was a relative strength amongst BRIEF scales for the Down syndrome group. Results suggest that individuals with Down syndrome tend to use compensatory strategies for problem solving (asking for help and potentially, keeping items well ordered), while for individuals with Williams syndrome, emotional reactions disrupt their problem-solving skills. This paper highlights the importance of identifying syndrome-specific problem

Short stature in genetic syndromes: Selected issues.

PubMed

Łaczmańska, Izabela; Kuliczkowska-Płaksej, Justyna; Stembalska, Agnieszka

2018-03-14

Short stature, which is defined as height below 2 standard deviations of the mean height for the age and sex, is one of the most frequent reasons for medical consultations in children. Short stature may occur due to a constitutional delay in growth, familial short stature or chronic diseases, including many genetic syndromes, metabolic and endocrine disorders. In this article the authors provide a mini-review of the most frequent genetic syndromes associated with short stature that should be taken into account in the differential diagnosis process. Syndromes caused by chromosomal aberrations and gene mutations were divided into 2 main groups: syndromes that are associated with intrauterine growth retardation (IUGR) and those in which IUGR does not occur in the natural history of the patient. The authors described the most important anomalies in each syndrome. Metabolic diseases and skeletal dysplasias were omitted, as they are major separate groups of diseases involving growth delay.

Are ECG abnormalities in Noonan syndrome characteristic for the syndrome?

PubMed

Raaijmakers, R; Noordam, C; Noonan, J A; Croonen, E A; van der Burgt, C J A M; Draaisma, J M T

2008-12-01

Of all patients with Noonan syndrome, 50-90% have one or more congenital heart defects. The most frequent occurring are pulmonary stenosis (PS) and hypertrophic cardiomyopathy. The electrocardiogram (ECG) of a patient with Noonan syndrome often shows a characteristic pattern, with a left axis deviation, abnormal R/S ratio over the left precordium, and an abnormal Q wave. The objective of this study was to determine if these ECG characteristics are an independent feature of the Noonan syndrome or if they are related to the congenital heart defect. A cohort study was performed with 118 patients from two university hospitals in the United States and in The Netherlands. All patients were diagnosed with definite Noonan syndrome and had had an ECG and echocardiography. Sixty-nine patients (58%) had characteristic abnormalities of the ECG. In the patient group without a cardiac defect (n = 21), ten patients had a characteristic ECG abnormality. There was no statistical relationship between the presence of a characteristic ECG abnormality and the presence of a cardiac defect (p = 0.33). Patients with hypertrophic cardiomyopathy had more ECG abnormalities in total (p = 0.05), without correlation with a specific ECG abnormality. We conclude that the ECG features in patients with Noonan syndrome are characteristic for the syndrome and are not related to a specific cardiac defect. An ECG is very useful in the diagnosis of Noonan syndrome; every child with a Noonan phenotype should have an ECG and echocardiogram for evaluation.

Influence of the thickness of the transverse carpal ligament in carpal tunnel syndrome.

PubMed

Bartolomé-Villar, A; Pastor-Valero, T; Fuentes-Sanz, A; Varillas-Delgado, D; García-de Lucas, F

To determine if the thickness of the transverse carpal ligament measured by T2 axial magnetic resonance imaging actually influences the onset of carpal tunnel syndrome. 94 patients between January 2015 and June 2016, of whom 28 had carpal tunnel syndrome, underwent magnetic resonance imaging, 37 with discomfort in different carpus regions without symptoms of carpal tunnel and 29 healthy subjects. Two observers performed 3 measurements in 3 different levels, and in the 3 groups of patients. No statistically significant differences in transverse carpal ligament thickness measurements between the carpal tunnel syndrome group and the group without carpal tunnel involvement became apparent, but statistical differences between the control group and the carpal tunnel syndrome group, and between the control group and the group without involvement of the carpal tunnel were observed. In both these groups, the thickness of the transverse ligament was higher than in the control group. An increase in the thickness of the transverse ligament in was found in this study in subjects with involvement of carpal tunnel syndrome as evidenced by numerous studies in the literature. There is no certain causative factor, but rather a set of facts that make onset of the syndrome possible in a specific group of patients. Carpal tunnel syndrome is multifactorial. The thickness of the transverse ligament does not directly affect the onset of symptoms. Copyright © 2017 SECOT. Publicado por Elsevier España, S.L.U. All rights reserved.

Physiological Arousal in Autism and Fragile X Syndrome: Group Comparisons and Links With Pragmatic Language

PubMed Central

Klusek, Jessica; Martin, Gary E.; Losh, Molly

2014-01-01

This study tested the hypothesis that pragmatic (i.e., social) language impairment is linked to arousal dysregulation in autism spectrum disorder (ASD) and fragile X syndrome (FXS). Forty boys with ASD, 39 with FXS, and 28 with typical development (TD), aged 4–15 years, participated. Boys with FXS were hyperaroused compared to boys with TD but did not differ from boys with ASD. Dampened vagal tone predicted pragmatic impairment in ASD, and associations emerged between cardiac activity and receptive/expressive vocabulary across groups. Findings support autonomic dysfunction as a mechanism underlying pragmatic impairment in ASD and suggest that biophysiological profiles are shared in ASD and FXS, which has implications for understanding the role of fragile X mental retardation-1 (FMR1, the FXS gene) in the pathophysiology of ASD. PMID:24432860

[The clinical phenomenology of Rett's syndrome].

PubMed

Calderón-González, R; Calderón-Sepulveda, R F; Treviño-Welsh, J

1999-01-01

The work was done to facilitate the clinical diagnosis and understanding of Rett syndrome (RS) by grouping the symptoms and signs in areas of neurological disfunction. This is a retrospective, longitudinal and observational study of 30 young females whose clinical manifestations were grouped using a modified Fitzgerald et al. scale for motor and behavior evaluation of patients with RS. All patients were videotaped at least during one or several appointments during their follow-up for a period of 1 to 10 years. All patients and videotapes were reviewed independently by the three authors. We followed the clinical diagnostic criteria of classic RS, and grouped the symptoms and signs in 12 groups of clinical phenomenology that represented specific areas of central or peripheral nervous system involvement: 1) dementia syndrome (fronto-temporo-parietal and limbic dysfunction); 2) extrapyramidal syndrome (basal ganglia dysfunction); 3) respiratory function disorders (brain stem reticular system disfunction); 4) sleep disorders (reticular system and limbic dysfunction); 5) epilepsy (cortico-subcortical paroxysmal bioelectrical dysfunction); 6) lower motor neuron syndrome (neuropathic dysfunction and/or peripheral neuropathy); 7) body growth retardation; 8) tonic-postural skeletal deformities; 9) deficit of pain sensation (nociceptive deficit); 10) pseudobulbar dysfunction; 11) autonomic dysfunction and 12) others (microcephaly and bruxism). In clinical practice, we recommend the use of this grouping of symptoms and signs because it makes facilities the clinical study, definition of areas of dysfunction and diagnosis of the patient with RS.

Imitation inhibition in children with Tourette syndrome.

PubMed

Brandt, Valerie Cathérine; Moczydlowski, Agnes; Jonas, Melanie; Boelmans, Kai; Bäumer, Tobias; Brass, Marcel; Münchau, Alexander

2017-08-12

Echopraxia, that is, the open and automatic imitation of other peoples' actions, is common in patients with Gilles de la Tourette syndrome, autism spectrum disorder, and also those with frontal lobe lesions. While systematic reaction time tasks have confirmed increased automatic imitation in the latter two groups, adult patients with Tourette syndrome appear to compensate for automatic imitation tendencies by an overall slowing in response times. However, whether children with Tourette syndrome are already able to inhibit automatic imitation tendencies has not been investigated. Fifteen children with Tourette syndrome and 15 healthy children (aged 7-12 years) performed an imitation inhibition paradigm. Participants were asked to respond to an auditory cue by lifting their index finger or their little finger. Participants were simultaneously presented with either compatible or incompatible visual stimuli. Overall responses in children with Tourette syndrome were slower than in healthy children. Although responses were faster in compatible than in incompatible trials in both groups, this 'interference effect' was smaller in children with Tourette syndrome. Children with Tourette syndrome have a smaller interference effect than healthy children, indicating an enhanced ability to behaviourally control automatic imitation tendencies at the cost of reacting slower. The results suggest that children with Tourette syndrome already employ different or additional inhibition strategies compared to healthy children. © 2017 The British Psychological Society.

Extracorporeal membrane oxygenation in children with heart disease and down syndrome: a multicenter analysis.

PubMed

Gupta, Punkaj; Gossett, Jeffrey M; Rycus, Peter T; Prodhan, Parthak

2014-12-01

The data on the outcomes of children with heart disease and Down syndrome receiving extracorporeal membrane oxygenation (ECMO) for cardiac or respiratory failure are limited. This study aimed to evaluate morbidity and mortality associated with ECMO in children with Down syndrome and heart disease. Children younger than 18 years undergoing heart surgery and ECMO reported in the Extracorporeal Life Support Organization (ELSO) registry (1998-2011) were included in the study. The registry was queried for the following five heart defects: common atrioventricular (AV) canal, tetralogy of Fallot, truncus arteriosus, transposition of great vessels, and interrupted aortic arch. Data collection included patient characteristics, ECMO characteristics, and outcomes. The outcomes evaluated included mortality, ECMO duration, and length of hospital stay for patients with Down syndrome and those with no Down syndrome. The study enrolled 2,815 patients qualified for inclusion. Of these patients, 121 had Down syndrome, whereas 2,694 had no genetic syndrome and were included in the control group. The median age of the patients was 45 days (interquartile range [IQR] 9-192 days), and the median weight was 3.8 kg (IQR 3.0-6.1 kg). The most common cardiac defects in Down syndrome group were common AV canal (63 %) and tetralogy of Fallot (40 %). The Down syndrome group included older patients with greater body weight than the control group. The mortality rate was lower in the Down syndrome group than in the control group (44 vs. 56 %; p = 0.01). The duration of ECMO and length of hospital stay were similar in the two groups. The findings showed that ECMO can be used for children with heart disease and Down syndrome with good results. The outcomes were comparable between the children with Down syndrome and the children without Down syndrome.

Intracranial arteries in individuals with the elastin gene hemideletion of Williams syndrome.

PubMed

Wint, D P; Butman, J A; Masdeu, J C; Meyer-Lindenberg, A; Mervis, C B; Sarpal, D; Morris, C A; Berman, K F

2014-01-01

Williams syndrome, a rare genetic disorder with a striking neurobehavioral profile characterized by extreme sociability and impaired visuospatial construction abilities, is caused by a hemideletion that includes the elastin gene, resulting in frequent supravavular aortic stenosis and other stenotic arterial lesions. Strokes have been reported in Williams syndrome. Although the extracranial carotid artery has been studied in a sample of patients with Williams syndrome, proximal intracranial arteries have not. Using MRA, we studied the intracranial vessels in 27 participants: 14 patients with Williams syndrome (age range, 18-44 years; mean age, 27.3 ± 9.1; 43% women) and 13 healthy control participants with similar age and sex distribution (age range, 22-52 years; mean age, 33.4 ± 7.6; 46% women). All participants with Williams syndrome had hemideletions of the elastin gene. Blinded to group allocation or to any other clinical data, a neuroradiologist determined the presence of intracranial vascular changes in the 2 groups. The Williams syndrome group and the healthy control group had similar patency of the proximal intracranial arteries, including the internal carotid and vertebral arteries; basilar artery; and stem and proximal branches of the anterior cerebral artery, MCA, and posterior cerebral arteries. The postcommunicating segment of the anterior cerebral artery was longer in the Williams syndrome group. Despite the elastin haploinsufficiency, the proximal intracranial arteries in Williams syndrome preserve normal patency.

Surveillance of group B streptococcal toxic shock-like syndrome in nonpregnant adults and characterization of the strains in Japan.

PubMed

Chang, Bin; Ikebe, Tadayoshi; Wada, Akihito; Ogata, Kikuyo; Tomita, Masaaki; Katsukawa, Chihiro; Kawahara, Ryuji; Suzuki, Rieko; Endo, Miyoko; Isobe, Junko; Tanaka, Daisuke; Hirasawa, Kyoko; Watanabe, Haruo

2006-06-01

Nine group B streptococci (GBS) strains were isolated from five toxic shock-like syndrome cases of nonpregnant adults in Japan from 2001 to 2005. All of them were identified as Streptococcus agalactiae. The serotypes of these strains were Ib, III, V, and VII. Pulsed-field gel electrophoresis revealed that the patterns of the strains isolated from the different patients were variable. Antimicrobial susceptibility tests showed that all of the strains were susceptible to penicillin G, ampicillin, cefotaxime, clindamycin, and telithromycin. One strain showed intermediate resistance to erythromycin.

Serum Progranulin Levels in Type 2 Diabetic Patients with Metabolic Syndrome.

PubMed

Shafaei, Azam; Marjani, Abdoljalal; Khoshnia, Masoud

2016-12-01

The role of progranulin in individuals with metabolic syndrome is not exactly clear.We aimed to assess the serum level of progranulin in type 2 diabetic patients with and without metabolic syndrome and compare them with healthy controls. The study included 60 patients with type 2 diabetes and 30 healthy individuals as control groups. Biochemical parameters and progranulin levels were determined. Subjects with metabolic syndrome showed significantly higher levels of triglyceride, waist circumference, BMI, systolic and diastolic blood pressure than subjects without metabolic syndrome and the control groups, while HDL-cholesterol level was significantly lower in subjects with metabolic syndrome. Fasting blood sugar was significantly higher in type 2 diabetic patients than in the control groups. Serum level of progranulin was slightly increased in subjects with metabolic syndrome. Serum progranulin level had no significant relationship with metabolic syndrome components. Serum progranulin was also not dependent on cardiometabolic risk factors for subjects with metabolic syndrome, but it could be considered for the management of type 2 diabetes mellitus. Further studies are recommended to explain the effect of progranulin on the pathogenesis of metabolic risk factors.

The People with Asperger syndrome and anxiety disorders (PAsSA) trial: a pilot multicentre, single-blind randomised trial of group cognitive-behavioural therapy.

PubMed

Langdon, Peter E; Murphy, Glynis H; Shepstone, Lee; Wilson, Edward C F; Fowler, David; Heavens, David; Malovic, Aida; Russell, Alexandra; Rose, Alice; Mullineaux, Louise

2016-03-01

There is a growing interest in using cognitive-behavioural therapy (CBT) with people who have Asperger syndrome and comorbid mental health problems. To examine whether modified group CBT for clinically significant anxiety in an Asperger syndrome population is feasible and likely to be efficacious. Using a randomised assessor-blind trial, 52 individuals with Asperger syndrome were randomised into a treatment arm or a waiting-list control arm. After 24 weeks, those in the waiting-list control arm received treatment, while those initially randomised to treatment were followed up for 24 weeks. The conversion rate for this trial was high (1.6:1), while attrition was 13%. After 24 weeks, there was no significant difference between those randomised to the treatment arm compared with those randomised to the waiting-list control arm on the primary outcome measure, the Hamilton Rating Scale for Anxiety. Trials of psychological therapies with this population are feasible. Larger definitive trials are now needed. None. © The Royal College of Psychiatrists 2016. This is an open access article distributed under the terms of the Creative Commons Attribution (CC BY) licence.

Diagnostic Approach to Viral Acute Encephalitis Syndrome (AES) in Paediatric Age Group: A Study from New Delhi.

PubMed

Goel, Shipra; Chakravarti, Anita; Mantan, Mukta; Kumar, Surinder; Ashraf, Md Anzar

2017-09-01

Acute Encephalitis Syndrome has heralded the emergence of multiple virulent pathogens, which may result in severe morbidity and mortality. In India, encephalitis is not notified and there has been a dearth of analysis for trends in encephalitis death rates and causation. A downward trend has been observed in encephalitis deaths, due to 'known' causes, which can be largely explained by improvement in diagnostic, treatment, and prevention methods. There is still a very high proportion of encephalitis deaths in developing countries, where the aetiological diagnosis of the pathogen is not established and thus, lies the importance of monitoring encephalitis morbidity and mortality with a view to improve pathogen diagnosis and identify emerging infectious diseases. To formulate a diagnostic approach to viral acute encephalitis syndrome in paediatric age group. A cross-sectional study including 50 paediatric patients, clinically diagnosed with acute encephalitis syndrome using WHO criteria was conducted. The CSF of all the patients was evaluated to diagnose the aetiology for viral pathogens. ELISA was used for diagnosing Japanese encephalitis and dengue encephalitis; and multiplex real time PCR was used for detecting HSV-1, HSV-2, Varicella zoster virus, Mumps virus, Enterovirus and Parechovirus. Confirmed diagnosis was established in 11 (22%) of 50 cases. A confirmed or probable viral agent of encephalitis was found in 7 (14%), bacterial agent was found in 2 (4%), non-infectious aetiology was found in 2 (4%). Fatal outcome was independently associated with patient age. Despite extensive testing, the aetiologies of more than three fourth of the cases remains elusive. Nevertheless the result from the present study may be useful for future design of early diagnosis and treatment of the disease. New strategies for pathogen identification and continued analysis of clinical features and case histories should help us improve our ability to diagnose, treat and prevent

[Hyperimmunoglobulin D syndrome].

PubMed

Drenth, J P; Denecker, N E; Prieur, A M; Van der Meer, J W

1995-09-16

The hyper-IgD syndrome is a rare entity characterized by early onset of attacks of periodic fever. All patients have an elevated serum IgD (> 100 U/ml). Symptoms during attacks include joint involvements (arthralgias/arthritis), abdominal complaints (vomiting, pain, diarrhoea), skin lesions, swollen lymph nodes, and headache. In 1992 an International hyper-IgD study group was established, and to date the diagnosis has been made in 60, mainly European patients; 14 come from France. The disorder occurs in families and is transmitted by autosomal recessive inheritance. Linkage studies indicate that the gene encoding for familial Mediterranean fever is different from the gene for the hyper-IgD syndrome. In children the hyper-IgD syndrome should be distinguished from two other periodic febrile disorders. CINCA (chronic inflammatory, neurological, cutaneous and articular syndrome) and FAPA (periodic fever, adenopathies, pharyngitis, and aphtous stomatitis) share some symptoms with the hyper-IgD syndrome but in these syndromes serum IgD is normal. The pathogenesis remains to be elucidated but during attacks all patients have an acute-phase response with elevated C-reactive protein concentrations. During the febrile episodes, the inflammatory cytokines such as IL-6 TNF alpha, IFN gamma are increased together with natural occurring inhibitors such as IL-1ra and sTNFr. There is no therapy for the syndrome and patients will experience attacks during their entire life although frequency and severity tend to diminish with age.

Oral mucosal manifestations in primary and secondary Sjögren syndrome and dry mouth syndrome

PubMed Central

Olewicz-Gawlik, Anna; Polańska, Adriana; Nowak-Gabryel, Michalina; Kocięcki, Jarosław; Witmanowski, Henryk; Sokalski, Jerzy

2016-01-01

Introduction One of the most important symptoms of Sjögren syndrome is xerostomia. The oral cavity deprived of saliva and its natural lubricative, protective and antibacterial properties is prone to a number of unfavourable consequences. Aim To present the most important lesions on the oral mucosa in primary and secondary Sjögren syndrome and in dry mouth syndrome. Material and methods The study group comprised 55 patients including 52 women and 3 men aged 20–72 years (average: 28.25 years). Results Basing on the accepted criteria, primary Sjögren syndrome was diagnosed in 22 (40%) patients, secondary Sjögren syndrome in 18 (32.7%) patients, and dry mouth syndrome in 15 (27.27%) patients. The physical examination and the examination of the mouth were performed and history was elicited from every patient. Conclusions The most common pathologies appearing on the oral mucosa in primary and secondary Sjögren syndrome are angular cheilitis, cheilitis, increased lip dryness as well as non-specific ulcerations, aphthae and aphthoid conditions. PMID:26985175

Effectiveness of physical activity intervention among government employees with metabolic syndrome.

PubMed

Huei Phing, Chee; Abu Saad, Hazizi; Barakatun Nisak, M Y; Mohd Nasir, M T

2017-12-01

Our study aimed to assess the effects of physical activity interventions via standing banners (point-of-decision prompt) and aerobics classes to promote physical activity among individuals with metabolic syndrome. We conducted a cluster randomized controlled intervention trial (16-week intervention and 8-week follow-up). Malaysian government employees in Putrajaya, Malaysia, with metabolic syndrome were randomly assigned by cluster to a point-of-decision prompt group (n = 44), an aerobics group (n = 42) or a control group (n = 103) based on sample size calculation formula. Step counts were evaluated by Lifecorder e-STEP accelerometers for all participants. Metabolic syndrome was defined according to the 'harmonizing' definition, in which individuals who have at least three of the five metabolic risk factors (waist circumference, high-density lipoprotein cholesterol, triglycerides, fasting glucose levels, systolic and diastolic blood pressure) will be classified as having metabolic syndrome. A total of 80% of the enrolled government employees with metabolic syndrome completed the programme. Data were analyzed using SPSS for Windows (version 20, SPSS, Chicago, IL). There were significantly higher step counts on average in the aerobics group compared to the control group over assessments. Assessments at baseline, post-intervention and follow-up showed a significant difference in step counts between the intervention and control groups. The greatest reductions in the proportions of individuals with metabolic syndrome were observed in the aerobics group with a reduction of 79.4% in the post-intervention assessment compared to the assessment at baseline. The findings of this study suggest that physical activity intervention via aerobics classes is an effective strategy for improving step counts and reducing the prevalence of metabolic syndrome.

Testicular thecoma in an 11-year-old boy with nevoid basal-cell carcinoma syndrome (Gorlin syndrome).

PubMed

Ueda, Masakatsu; Kanematsu, Akihiro; Nishiyama, Hiroyuki; Yoshimura, Koji; Watanabe, Kenichiro; Yorifuji, Tohru; Mikami, Yoshiki; Kamoto, Toshiyuki; Ogawa, Osamu

2010-03-01

We report a case of testicular thecoma in an 11-year-old Japanese boy with nevoid basal-cell carcinoma syndrome (Gorlin syndrome). He presented with left testicular swelling and underwent a radical orchiectomy on suspicion of a malignant paratesticular tumor. The tumor arose from the testis exophytically and was diagnosed as a thecoma histopathologically. Ovarian thecoma-fibroma group tumors are closely associated with Gorlin syndrome or with abnormalities in PTCH, a candidate gene for the syndrome. The occurrence of an extremely rare testicular thecoma in this case (the second in the literature) suggests that such an etiological association may also exist in the pathogenesis of testicular tumors.

Living with Moebius syndrome: adjustment, social competence, and satisfaction with life.

PubMed

Bogart, Kathleen Rives; Matsumoto, David

2010-03-01

Moebius syndrome is a rare congenital condition that results in bilateral facial paralysis. Several studies have reported social interaction and adjustment problems in people with Moebius syndrome and other facial movement disorders, presumably resulting from lack of facial expression. To determine whether adults with Moebius syndrome experience increased anxiety and depression and/or decreased social competence and satisfaction with life compared with people without facial movement disorders. Internet-based quasi-experimental study with comparison group. Thirty-seven adults with Moebius syndrome recruited through the United States-based Moebius Syndrome Foundation newsletter and Web site and 37 age- and gender-matched control participants recruited through a university participant database. Anxiety and depression, social competence, satisfaction with life, ability to express emotion facially, and questions about Moebius syndrome symptoms. People with Moebius syndrome reported significantly lower social competence than the matched control group and normative data but did not differ significantly from the control group or norms in anxiety, depression, or satisfaction with life. In people with Moebius syndrome, degree of facial expression impairment was not significantly related to the adjustment variables. Many people with Moebius syndrome are better adjusted than previous research suggests, despite their difficulties with social interaction. To enhance interaction, people with Moebius syndrome could compensate for the lack of facial expression with alternative expressive channels.

The metabolic syndrome in a Congolese population and its implications for metabolic syndrome definitions.

PubMed

Longo-Mbenza, B; Kasiam Lasi On'kin, J B; Nge Okwe, A; Kangola Kabangu, N

2011-01-01

Metabolic syndrome defined by International cut-off values are limited to detect people at high cardiometabolic risk in Central Africans in comparison with metabolic syndrome defined by ethnic-specific definition. We examined the relationship between metabolic syndromes, diabetes control, abdominal obesity, HDL-cholesterol groups and atherosclerotic complications. A representative sample of type-2 diabetic central Africans from Kinshasa were studied. Outcome measures included control of diabetes, atherosclerosis, abdominal obesity, insulin resistance, total cholesterol, triglycerides, HDL-cholesterol, metabolic syndromes and atherosclerosis. Of 1266 type-2 diabetic patients (48.8%), (61.8%), (27.1%) and (81%) had uncontrolled diabetes, atherosclerotics, metabolic syndrome (IDF/Europe), and metabolic syndrome (IDF/local) respectively. There was a significant U-shaped relationship between atherosclerotics complications, insulin resistance, delta postprandial glycaemia and HDL-cholesterol stratification. There was also a significant U-shaped relationship between cardiometabolic risk (P<0.01) and atherosclerotic complications. Type-2 diabetic Central Africans exhibit very high rates of uncontrolled diabetes, atherosclerotic complications and metabolic syndrome. Both, abdominal obesity, insulin resistance, low and very high HDL-cholesterol levels are cardiometabolic risk factors. Crown Copyright © 2010. Published by Elsevier Ltd. All rights reserved.

The Role of Follicular Fluid Thiol/Disulphide Homeostasis in Polycystic Ovary Syndrome.

PubMed

Tola, Esra Nur; Köroğlu, Nadiye; Ergin, Merve; Oral, Hilmi Baha; Turgut, Abdülkadir; Erel, Özcan

2018-04-04

Oxidative stress is suggested as a potential triggering factor in the etiopathogenesis of Polycystic ovary syndrome related infertility. Thiol/disulphide homeostasis, a recently oxidative stress marker, is one of the antioxidant mechanism in human which have critical roles in folliculogenesis and ovulation. The aim of our study is to investigate follicular fluid thiol/disulphide homeostasis in the etiopathogenesis of Polycystic ovary syndrome and to determine its' association with in vitro fertilization outcome. The study procedures were approved by local ethic committee. Cross sectional design Methods: Follicular fluid of twenty-two Polycystic ovary syndrome women and twenty ovulatory controls undergoing in vitro fertilization treatment were recruited. Thiol/disulphide homeostasis was analyzed via a novel spectrophotometric method. Follicular native thiol levels were found to be lower in Polycystic ovary syndrome group than non- Polycystic ovary syndrome group (p=0.041) as well as native thiol/total thiol ratio (p<0.0001). Disulphide level, disulphide/native thiol and disulphide/total thiol ratios were increased in Polycystic ovary syndrome group (p<0.0001). A positive correlation between fertilization rate and native thiol (p=0.01, r=0.53) and total thiol (p=0.01, r=0.052) among Polycystic ovary syndrome patients was found. A positive predictive effect of native thiol on fertilization rate among Polycystic ovary syndrome group was also found (p=0.03, β=0.45, 95% CI=0.031-0.643). Deterioration in thiol/disulphide homeostasis, especially elevated disulphide levels could be one of the etiopathogenetic mechanism in Polycystic ovary syndrome. Increased native thiol levels is related to fertilization rate among Polycystic ovary syndrome patients and also positive predictor marker of fertilization rate among Polycystic ovary syndrome patients. Improvement of thiol/disulphide homeostasis could be of importance in the treatment of Polycystic ovary syndrome to increase in

Intrinsic Information Processing and Energy Dissipation in Stochastic Input-Output Dynamical Systems

DTIC Science & Technology

2015-07-09

Crutchfield. Information Anatomy of Stochastic Equilibria, Entropy , (08 2014): 0. doi: 10.3390/e16094713 Virgil Griffith, Edwin Chong, Ryan James...Christopher Ellison, James Crutchfield. Intersection Information Based on Common Randomness, Entropy , (04 2014): 0. doi: 10.3390/e16041985 TOTAL: 5 Number...Learning Group Seminar, Complexity Sciences Center, UC Davis. Korana Burke and Greg Wimsatt (UCD), reviewed PRL “Measurement of Stochastic Entropy

Prolapse of all cardiac valves in Noonan syndrome.

PubMed

Otikunta, Adikesava Naidu; Subbareddy, Y V; Polamuri, Praneeth; Thakkar, Ashok

2015-02-25

Noonan syndrome is an autosomal dominant disorder with genetically heterogeneous inheritance. The incidence of cardiac abnormalities is higher in patients with Noonan syndrome and approximately 80% patients with Noonan syndrome are reported to have cardiac abnormalities during their lifetimes. However, polyvalvular disease in Noonan syndrome is rare. In this case-report, we describe a case of a young man whose features were strongly suggestive of Noonan syndrome and who was diagnosed with prolapse of all four cardiac valves after 22 years of uneventful survival. 2015 BMJ Publishing Group Ltd.

Theory of mind in Asperger's syndrome, schizophrenia and personality disordered forensic patients.

PubMed

Murphy, David

2006-03-01

The ability to conceptualise other individuals' mental states is dependent on having a 'theory of mind' (ToM). Individuals with Asperger's syndrome typically display ToM impairments, as do some individuals with schizophrenia, notably those with paranoid delusions. The presenting features of these and other individuals, such as those with some personality disorders, particularly in forensic patients, are often unclear. ToM performance was examined to see whether it could distinguish forensic patients with Asperger's syndrome from other patient groups. The performance of three male patient groups (N = 39) detained in high security psychiatric care, including those with Asperger's syndrome, schizophrenia (with paranoid delusions and/or auditory hallucinations as their predominant symptoms), or a dissocial and/or borderline personality disorder were compared using the revised eyes task and the modified advanced ToM test. The Asperger's syndrome and schizophrenia groups performed significantly worse than the personality disorder group on both ToM measures. However, the Asperger's syndrome and the personality disorder groups had significantly higher levels of general intellectual functioning than the schizophrenia group. Whilst ToM performance may help to discriminate patients with Asperger's syndrome or schizophrenia from personality disorder ed patients, a wide range in performance made it difficult to specify a patient to a particular group. Theoretical and methodological issues are discussed along with the usefulness of ToM assessments with forensic patients.

Cost-utility of a specific collaborative group intervention for patients with functional somatic syndromes.

PubMed

Konnopka, Alexander; König, Hans-Helmut; Kaufmann, Claudia; Egger, Nina; Wild, Beate; Szecsenyi, Joachim; Herzog, Wolfgang; Schellberg, Dieter; Schaefert, Rainer

2016-11-01

Collaborative group intervention (CGI) in patients with functional somatic syndromes (FSS) has been shown to improve mental quality of life. To analyse incremental cost-utility of CGI compared to enhanced medical care in patients with FSS. An economic evaluation alongside a cluster-randomised controlled trial was performed. 35 general practitioners (GPs) recruited 300 FSS patients. Patients in the CGI arm were offered 10 group sessions within 3months and 2 booster sessions 6 and 12months after baseline. Costs were assessed via questionnaire. Quality adjusted life years (QALYs) were calculated using the SF-6D index, derived from the 36-item short-form health survey (SF-36). We calculated patients' net-monetary-benefit (NMB), estimated the treatment effect via regression, and generated cost-effectiveness acceptability curves. Using intention-to-treat analysis, total costs during the 12-month study period were 5777EUR in the intervention, and 6858EUR in the control group. Controlling for possible confounders, we found a small, but significant positive intervention effect on QALYs (+0.017; p=0.019) and an insignificant cost saving resulting from a cost-increase in the control group (-10.5%; p=0.278). NMB regression showed that the probability of CGI to be cost-effective was 69% for a willingness to pay (WTP) of 0EUR/QALY, increased to 92% for a WTP of 50,000EUR/QALY and reached the level of 95% at a WTP of 70,375EUR/QALY. Subgroup analyses yielded that CGI was only cost-effective in severe somatic symptom severity (PHQ-15≥15). CGI has a high probability to be a cost-effective treatment for FSS, in particular for patients with severe somatic symptom severity. Copyright © 2016 Elsevier Inc. All rights reserved.

Articulation and Noncomprehension Signaling in Adolescent and Adult Males with Down Syndrome and Fragile X Syndrome

ERIC Educational Resources Information Center

Fedak, Larissa Ann

2012-01-01

The purpose of this study was to determine whether or not decreased articulation of speech played a role in the ability of an individual with Down syndrome or Fragile X syndrome to signal noncomprehension and whether the two groups differed in their levels of articulation of speech and noncomprehension signaling ability. The research was conducted…

Association between cardiovascular fitness and metabolic syndrome among American workers.

PubMed

Lewis, John E; Cutrono, Stacy E; Hodgson, Nicole; LeBlanc, William G; Arheart, Kristopher L; Fleming, Lora E; Lee, David J

2015-02-01

To explore the association between cardiovascular fitness and metabolic syndrome across occupational groups using a nationally representative sample of the US population. Respondents aged 18 to 49 years from the 1999 to 2004 National Health and Nutrition Examination Survey were evaluated for cardiovascular fitness and classified with regard to metabolic syndrome. Comparisons were made across 40 occupational categories. For all occupations with and without metabolic syndrome, the estimated maximal oxygen consumption (VO2max) was 38.8 mL/kg/min (standard error = 0.5) and 41.1 mL/kg/min (standard error = 0.2), respectively. The estimated VO2max was higher for those without metabolic syndrome for most occupational groups, particularly for sales supervisors and proprietors, sales representatives, finance, business, and commodities, and freight, stock, and material movers. Low estimated VO2max among workers with metabolic syndrome can be addressed, in part, by workplace interventions designed to increase fitness. This study identifies priority occupational groups for these interventions.

Autobiographical Memory and Social Problem-Solving in Asperger Syndrome

ERIC Educational Resources Information Center

Goddard, Lorna; Howlin, Patricia; Dritschel, Barbara; Patel, Trishna

2007-01-01

Difficulties in social interaction are a central feature of Asperger syndrome. Effective social interaction involves the ability to solve interpersonal problems as and when they occur. Here we examined social problem-solving in a group of adults with Asperger syndrome and control group matched for age, gender and IQ. We also assessed…

Streptococcal toxic shock syndrome following total thyroidectomy.

PubMed

Hung, J A Z; Rajeev, P

2013-10-01

Group A streptococcal toxic shock syndrome following clean surgery is a rare occurrence. Its incidence following thyroid surgery has not been described in the literature. We report on the presentation and management of severe streptococcal toxic shock syndrome following a total thyroidectomy for a multinodular goitre in a patient with Cowden syndrome. This report presents an overview of streptococcal toxic shock syndrome with a focus on the management issues to consider so as to improve patient outcome. All surgeons must maintain a high index of suspicion for this rare but dangerous entity.

Streptococcal toxic shock syndrome following total thyroidectomy

PubMed Central

Hung, J AZ

2013-01-01

Group A streptococcal toxic shock syndrome following clean surgery is a rare occurrence. Its incidence following thyroid surgery has not been described in the literature. We report on the presentation and management of severe streptococcal toxic shock syndrome following a total thyroidectomy for a multinodular goitre in a patient with Cowden syndrome. This report presents an overview of streptococcal toxic shock syndrome with a focus on the management issues to consider so as to improve patient outcome. All surgeons must maintain a high index of suspicion for this rare but dangerous entity. PMID:24112488

Association between Metabolic Syndrome and Job Rank.

PubMed

Mehrdad, Ramin; Pouryaghoub, Gholamreza; Moradi, Mahboubeh

2018-01-01

The occupation of the people can influence the development of metabolic syndrome. To determine the association between metabolic syndrome and its determinants with the job rank in workers of a large car factory in Iran. 3989 male workers at a large car manufacturing company were invited to participate in this cross-sectional study. Demographic and anthropometric data of the participants, including age, height, weight, and abdominal circumference were measured. Blood samples were taken to measure lipid profile and blood glucose level. Metabolic syndrome was diagnosed in each participant based on ATPIII 2001 criteria. The workers were categorized based on their job rank into 3 groups of (1) office workers, (2) workers with physical exertion, and (3) workers with chemical exposure. The study characteristics, particularly the frequency of metabolic syndrome and its determinants were compared among the study groups. The prevalence of metabolic syndrome in our study was 7.7% (95% CI 6.9 to 8.5). HDL levels were significantly lower in those who had chemical exposure (p=0.045). Diastolic blood pressure was significantly higher in those who had mechanical exertion (p=0.026). The frequency of metabolic syndrome in the office workers, workers with physical exertion, and workers with chemical exposure was 7.3%, 7.9%, and 7.8%, respectively (p=0.836). Seemingly, there is no association between metabolic syndrome and job rank.

Establishing equivalence: methodological progress in group-matching design and analysis.

PubMed

Kover, Sara T; Atwoo, Amy K

2013-01-01

This methodological review draws attention to the challenges faced by intellectual and developmental disabilities researchers in the appropriate design and analysis of group comparison studies. We provide a brief overview of matching methodologies in the field, emphasizing group-matching designs used in behavioral research on cognition and language in neurodevelopmental disorders, including autism spectrum disorder, Fragile X syndrome, Down syndrome, and Williams syndrome. The limitations of relying on p values to establish group equivalence are discussed in the context of other existing methods: equivalence tests, propensity scores, and regression-based analyses. Our primary recommendation for advancing research on intellectual and developmental disabilities is the use of descriptive indices of adequate group matching: effect sizes (i.e., standardized mean differences) and variance ratios.

Establishing Equivalence: Methodological Progress in Group-Matching Design and Analysis

PubMed Central

Kover, Sara T.; Atwood, Amy K.

2017-01-01

This methodological review draws attention to the challenges faced by intellectual and developmental disabilities researchers in the appropriate design and analysis of group comparison studies. We provide a brief overview of matching methodologies in the field, emphasizing group-matching designs utilized in behavioral research on cognition and language in neurodevelopmental disorders, including autism spectrum disorder, fragile X syndrome, Down syndrome, and Williams syndrome. The limitations of relying on p-values to establish group equivalence are discussed in the context of other existing methods: equivalence tests, propensity scores, and regression-based analyses. Our primary recommendation for advancing research on intellectual and developmental disabilities is the use of descriptive indices of adequate group matching: effect sizes (i.e., standardized mean differences) and variance ratios. PMID:23301899

Hearing loss in Behçet syndrome.

PubMed

Bakhshaee, Mehdi; Mahdi, Bakhshaee; Ghasemi, Mohammad Mehdi; Mehdi, Ghasemi Mohammad; Hatef, Mohammad Reza; Reza, Hatef Mohammad; Talebmehr, Mahdieh; Mahdieh, Talebmehr; Shakeri, Mohammad Taghi; Taghi, Shakeri Mohammad

2007-09-01

To determine the prevalence and characteristics of hearing loss in Behçet syndrome. This study included 27 patients with Behçet syndrome and 35 sex-and age-matched controls. A complete audiological evaluation was performed. The average pure-tone audiograms from both groups showed a statistically significant hearing loss in the Behçet group. Sixteen patients (59.26%) showed some degrees of sensorineural hearing loss (SNHL), with the high-frequency type (4, 8, 10, and 12 kHz) being the most common pattern (93.75%). Hearing loss was the fourth most common manifestation. Although the patient's age, sex, and the duration of the disease were not related to hearing loss, there was a significant correlation between a negative pathergy test and hearing loss in patients with Behçet syndrome. We should consider audiovestibular involvement in Behçet syndrome as a common finding.

Marfan syndrome: current perspectives

PubMed Central

Pepe, Guglielmina; Giusti, Betti; Sticchi, Elena; Abbate, Rosanna; Gensini, Gian Franco; Nistri, Stefano

2016-01-01

Marfan syndrome (MFS) is a pleiotropic connective tissue disease inherited as an autosomal dominant trait, due to mutations in the FBN1 gene encoding fibrillin 1. It is an important protein of the extracellular matrix that contributes to the final structure of a microfibril. Few cases displaying an autosomal recessive transmission are reported in the world. The FBN1 gene, which is made of 66 exons, is located on chromosome 15q21.1. This review, after an introduction on the clinical manifestations that leads to the diagnosis of MFS, focuses on cardiovascular manifestations, pharmacological and surgical therapies of thoracic aortic aneurysm and/or dissection (TAAD), mechanisms underlying the progression of aneurysm or of acute dissection, and biomarkers associated with progression of TAADs. A Dutch group compared treatment with losartan, an angiotensin II receptor-1 blocker, vs no other additional treatment (COMPARE clinical trial). They observed that losartan reduces the aortic dilatation rate in patients with Marfan syndrome. Later on, they also reported that losartan exerts a beneficial effect on patients with Marfan syndrome carrying an FBN1 mutation that causes haploinsufficiency (quantitative mutation), while it has no significant effect on patients displaying dominant negative (qualitative) mutations. Moreover, a French group in a 3-year trial compared the administration of losartan vs placebo in patients with Marfan syndrome under treatment with beta-receptor blockers. They observed that losartan decreases blood pressure but has no effect on aortic diameter progression. Thus, beta-receptor blockers remain the gold standard therapy in patients with Marfan syndrome. Three potential biochemical markers are mentioned in this review: total homocysteine, serum transforming growth factor beta, and lysyl oxidase. Moreover, markers of oxidative stress measured in plasma, previously correlated with clinical features of Marfan syndrome, may be explored as potential

Marfan syndrome: current perspectives.

PubMed

Pepe, Guglielmina; Giusti, Betti; Sticchi, Elena; Abbate, Rosanna; Gensini, Gian Franco; Nistri, Stefano

2016-01-01

Marfan syndrome (MFS) is a pleiotropic connective tissue disease inherited as an autosomal dominant trait, due to mutations in the FBN1 gene encoding fibrillin 1. It is an important protein of the extracellular matrix that contributes to the final structure of a microfibril. Few cases displaying an autosomal recessive transmission are reported in the world. The FBN1 gene, which is made of 66 exons, is located on chromosome 15q21.1. This review, after an introduction on the clinical manifestations that leads to the diagnosis of MFS, focuses on cardiovascular manifestations, pharmacological and surgical therapies of thoracic aortic aneurysm and/or dissection (TAAD), mechanisms underlying the progression of aneurysm or of acute dissection, and biomarkers associated with progression of TAADs. A Dutch group compared treatment with losartan, an angiotensin II receptor-1 blocker, vs no other additional treatment (COMPARE clinical trial). They observed that losartan reduces the aortic dilatation rate in patients with Marfan syndrome. Later on, they also reported that losartan exerts a beneficial effect on patients with Marfan syndrome carrying an FBN1 mutation that causes haploinsufficiency (quantitative mutation), while it has no significant effect on patients displaying dominant negative (qualitative) mutations. Moreover, a French group in a 3-year trial compared the administration of losartan vs placebo in patients with Marfan syndrome under treatment with beta-receptor blockers. They observed that losartan decreases blood pressure but has no effect on aortic diameter progression. Thus, beta-receptor blockers remain the gold standard therapy in patients with Marfan syndrome. Three potential biochemical markers are mentioned in this review: total homocysteine, serum transforming growth factor beta, and lysyl oxidase. Moreover, markers of oxidative stress measured in plasma, previously correlated with clinical features of Marfan syndrome, may be explored as potential

Divorce in Families of Children with Down Syndrome: A Population-Based Study

ERIC Educational Resources Information Center

Urbano, Richard C.; Hodapp, Robert M.

2007-01-01

In this study, we examined the nature, timing, and correlates of divorce in families of children with Down syndrome (647), other birth defects (10,283) and no identified disability (361,154). Divorce rates among families of children with Down syndrome were lower than in the other two groups. When divorce did occur in the Down syndrome group,…

Mathematics learning disabilities in girls with fragile X or Turner syndrome during late elementary school.

PubMed

Murphy, Melissa M; Mazzocco, Michèle M M

2008-01-01

The present study focuses on math and related skills among 32 girls with fragile X (n = 14) or Turner (n = 18) syndrome during late elementary school. Performance in each syndrome group was assessed relative to Full Scale IQ-matched comparison groups of girls from the general population (n = 32 and n = 89 for fragile X syndrome and Turner syndrome, respectively). Differences between girls with fragile X and their comparison group emerged on untimed arithmetic calculations, mastery of counting skills, and arithmetic problem verification accuracy. Relative to girls in the comparison group, girls with Turner syndrome did not differ on untimed arithmetic calculations or problem verification accuracy, but they had limited mastery of counting skills and longer response times to complete the problem verification task. Girls with fragile X or Turner syndrome also differed from their respective comparison groups on math-related abilities, including visual-spatial, working memory, and reading skills, and the associations between math and those related skills. Together, these findings support the notion that difficulty with math and related skills among girls with fragile X or Turner syndrome continues into late elementary school and that the profile of math and related skill difficulty distinguishes the two syndrome groups from each other.

Remineralization of primary tooth enamel from individuals with Down syndrome.

PubMed

Okamoto, Takuma; Shibata, Munenori; Tsuboi, Shinji; Nakagaki, Haruo; Fukuta, Osamu; Kusabe, Yoshitaka; Inukai, Junko

2011-01-01

The purpose of this study was to clarify the characteristics of primary tooth enamel of Down syndrome patients (DSPs). We examined 9 primary teeth of Down syndrome children and 11 primary teeth of normally developed children to investigate the remineralization processes of enamel by transverse microradiography and X ray micro analyzer (XMA). Mineral loss, lesion depth, maximum mineral value, minimum mineral value, depth of maximum mineral value, and depth of minimum mineral value were used to analyze transverse microradiography (TMR). In addition, we calculated the percentage of enamel remineralization. All the parameters in the 2 groups showed marked recovery. The results indicated that the Down syndrome group was significantly remineralized the same way as the control group. According to the comparison of mineral content distribution by XMA, the content distribution of magnesium was different between the 2 groups. While recovery through remineralization of primary teeth was similar between Down syndrome children and normally developed children, the mechanism of remineralization process may be different between the 2 groups; consequently, magnesium may be considered as one of the factors affecting recovery.

Barth Syndrome Is Associated with a Cognitive Phenotype

PubMed Central

Mazzocco, Michèle M.M.; Henry, Anne E.; Kelly, Richard I.

2010-01-01

Objective Barth syndrome is a rare, X-linked recessive disorder that affects only boys. The cardinal characteristics include growth retardation, cardioskeletal myopathy, chronic or cyclic neutropenia, and 3-methylglutaconic aciduria. A preliminary study of five young boys with Barth syndrome suggested a distinct cognitive phenotype. Methods The present study was designed to explore whether additional evidence for a cognitive phenotype emerged from a larger sample. A psychoeducational assessment battery was administered to 15 boys with Barth syndrome. Data from these boys were compared to data from 15 typically developing boys individually matched on age and grade in school to each of the 15 boys with Barth syndrome. Results Although boys with Barth syndrome had age-appropriate performance on all measures of reading-related skills, their performance on mathematics and visual spatial tasks was significantly lower than that of boys in the comparison group. Moreover, specific aspects of visual short-term memory also differed from available norms. Conclusion Our findings support the validity of the preliminary findings and reflect a higher incidence of cognitive difficulties in boys with Barth syndrome relative to boys in the comparison group. Coupled with the fatigue regularly experienced by boys with Barth syndrome, our findings indicate that educational support should be implemented during the early school-age years for children with Barth syndrome. PMID:17353728

Language and Literacy Development of Children with Williams Syndrome

ERIC Educational Resources Information Center

Mervis, Carolyn B.

2009-01-01

Williams syndrome is a rare neurodevelopmental disorder caused by deletion of approximately 25 genes on chromosome 7q11.23. Children with the syndrome evidence large individual differences in both broad language and reading abilities. Nevertheless, as a group, children with this syndrome show a consistent pattern characterized by relative…

The Serum Analysis of Dampness Syndrome in Patients with Coronary Heart Disease and Chronic Renal Failure Based on the Theory of "Same Syndromes in Different Diseases".

PubMed

Hao, Yiming; Yuan, Xue; Qian, Peng; Bai, Guanfeng; Wang, Yiqin

2017-01-01

To analyze the serum metabolites in patients with coronary heart disease (CHD) showing dampness syndrome and patients with chronic renal failure (CRF) showing dampness syndrome and to seek the substance that serves as the underlying basis of dampness syndrome in "same syndromes in different diseases." Methods . Metabolic spectrum by GC-MS was performed using serum samples from 29 patients with CHD showing dampness syndrome and 32 patients with CRF showing dampness syndrome. The principal component analysis and statistical analysis of partial least squares were performed to detect the metabolites with different levels of expression in patients with CHD and CRF. Furthermore, by comparing the VIP value and data mining in METLIN and HMDB, we identified the common metabolites in both patient groups. (1) Ten differential metabolites were found in patients with CHD showing dampness syndrome when compared to healthy subjects. Meanwhile, nine differential metabolites were found in patients with CRF showing dampness syndrome when compared to healthy subjects. (2) There were 9 differential metabolites identified when the serum metabolites of the CHD patients with dampness syndrome were compared to those of CRF patients with dampness syndrome. There were 4 common metabolites found in the serums of both patient groups.

[Psychosomatic aspects of dry eye syndrome].

PubMed

Nepp, J

2016-02-01

Patients with dry eye syndrome are known to suffer from anxiety and depression. Analysis of psychological disorders in therapy-resistant dry eye syndrome. A retrospective analysis of the training for interactive psychiatric screening (TRIPS) questionnaire from 110 patients with therapy-resistant dry eye syndrome was carried out. The results of the questionnaire allow the diagnosis of psychological disorders and vegetative disorders. Patients were divided into groups with anxiety, depression, mixed diagnoses, vegetative disorders and no diagnosis. A sicca score was used for assessment of dryness comprising the Schirmer test, measurement of tear meniscus, break up time, lipid layer thickness, the use of fluorescein and rose bengal staining tests and the subjective visual analogue scale. The diagnosis of dry eye syndrome was compared with the psychological disorders of anxiety and depression. Of the patients 52.7 % had psychological disorders with anxiety in 21.8 %, depression in 15.3 %, mixed diagnoses in 14.5 %, dystonia in 25.4 % and in 22.7 % no psychological disorders were diagnosed. General anxiety was frequent and panic disorders were often associated with other kinds of anxiety. Severe depression, such as bipolar disorder was rare. Dry eye scores were highest in the mixed group (0.59), and lowest in the group with mild anxiety (0.38). No single sicca phase disorder could be correlated with any of the psychological diagnoses. Patients with therapy-resistant dry eye syndrome often suffer from anxiety and depression. The psychological stress acts on the nervous system to suppress lacrimal gland function. Further investigation of the correlation between the lacrimal tear film phase and psychological disorders is recommended. Knowledge of personality disorders may allow psychological support that would improve the treatment options for dry eye syndrome.

Formal Specification and Analysis of Cloud Computing Management

DTIC Science & Technology

2012-01-24

te r Cloud Computing in a Nutshell We begin this introduction to Cloud Computing with a famous quote by Larry Ellison: “The interesting thing about...the wording of some of our ads.” — Larry Ellison, Oracle CEO [106] In view of this statement, we summarize the essential aspects of Cloud Computing...1] M. Abadi, M. Burrows , M. Manasse, and T. Wobber. Moderately hard, memory-bound functions. ACM Transactions on Internet Technology, 5(2):299–327

Preschool children with intellectual disability: syndrome specificity, behaviour problems, and maternal well-being.

PubMed

Eisenhower, A S; Baker, B L; Blacher, J

2005-09-01

Children with intellectual disability (ID) are at heightened risk for behaviour problems and diagnosed mental disorder. Likewise, mothers of children with ID are more stressed than mothers of typically developing children. Research on behavioural phenotypes suggests that different syndromes of ID may be associated with distinct child behavioural risks and maternal well-being risks. In the present study, maternal reports of child behaviour problems and maternal well-being were examined for syndrome-specific differences. The present authors studied the early manifestation and continuity of syndrome-specific behaviour problems in 215 preschool children belonging to 5 groups (typically developing, undifferentiated developmental delays, Down syndrome, autism, cerebral palsy) as well as the relation of syndrome group to maternal well-being. At age 3, children with autism and cerebral palsy showed the highest levels of behaviour problems, and children with Down syndrome and typically developing children showed the lowest levels. Mothers of children with autism reported more parenting stress than all other groups. These syndrome-specific patterns of behaviour and maternal stress were stable across ages 3, 4 and 5 years, except for relative increases in behaviour problems and maternal stress in the Down syndrome and cerebral palsy groups. Child syndrome contributed to maternal stress even after accounting for differences in behaviour problems and cognitive level. These results, although based on small syndrome groups, suggest that phenotypic expressions of behaviour problems are manifested as early as age 3. These behavioural differences were paralleled by differences in maternal stress, such that mothers of children with autism are at elevated risk for high stress. In addition, there appear to be other unexamined characteristics of these syndromes, beyond behaviour problems, which also contribute to maternal stress.

Longterm visual prognosis in Usher syndrome types 1 and 2.

PubMed

Sadeghi, André M; Eriksson, Kristina; Kimberling, William J; Sjöström, Anders; Möller, Claes

2006-08-01

To estimate the age at diagnosis of retinitis pigmentosa and to determine visual acuity deterioration, visual field impairment and the frequency of cataracts in Usher syndrome types 1 and 2. We carried out a retrospective study of 328 affected subjects with Usher syndrome types 1 and 2. Study subjects were divided into seven different age groups by decade. Data were analysed using descriptive statistics, general linear model anova and survival analysis. Retinitis pigmentosa was diagnosed significantly earlier in subjects with Usher syndrome type 1 than in those with type 2. Visual acuity was significantly more impaired in affected subjects with Usher syndrome type 1 than in those with type 2 from 50 years of age onwards. Survival analysis revealed a significant difference in visual field loss (groups, with type 2 subjects tending to be more impaired, while comparison indicated no significant differences between the groups in any of the other visual field categories. Cataract was found to be generally more common in Usher syndrome type 1 than type 2. Progressive loss of visual acuity and visual field begins to be substantial between the second and third decades of life in both Usher types. The rate of degeneration varies between individuals in both groups. The data are useful for the counselling of affected subjects with Usher syndrome types 1 and 2.

Group A streptococcal toxic shock syndrome secondary to necrotizing pelvic inflammatory disease in a postmenopausal woman.

PubMed

Paulson, Qiwei; Douglass, Elizabeth; Moreno, Alejandro; Aydelotte, Jayson

2016-01-01

Group A β-hemolytic streptococcus (GAS) is well known to cause upper respiratory tract or cutaneous infections, but some more virulent species of GAS can lead to a rapidly progressive life threatening soft tissue necrotizing infection and streptococcal toxic shock syndrome (STSS). In the modern era, GAS infections within the female reproductive tract leading to STSS are unusual and are often the result of retained products of conception or intrauterine devices. This report describes a case of GAS necrotizing pelvic infection in a previously healthy menopausal woman with no obvious portal of entry. Her clinical course rapidly progressed to septic shock and multiorgan failure. She required multiple surgeries in addition to targeted antimicrobials and aggressive management of shock and organ failures. After a prolonged hospital stay, she had a full recovery.

Clinicopathological correlates of adrenal Cushing's syndrome.

PubMed

Duan, Kai; Hernandez, Karen Gomez; Mete, Ozgur

2015-06-01

Endogenous Cushing's syndrome is a rare endocrine disorder that incurs significant cardiovascular morbidity and mortality, due to glucocorticoid excess. It comprises adrenal (20%) and non-adrenal (80%) aetiologies. While the majority of cases are attributed to pituitary or ectopic corticotropin (ACTH) overproduction, primary cortisol-producing adrenal cortical lesions are increasingly recognised in the pathophysiology of Cushing's syndrome. Our understanding of this disease has progressed substantially over the past decade. Recently, important mechanisms underlying the pathogenesis of adrenal hypercortisolism have been elucidated with the discovery of mutations in cyclic AMP signalling (PRKACA, PRKAR1A, GNAS, PDE11A, PDE8B), armadillo repeat containing 5 gene (ARMC5) a putative tumour suppressor gene, aberrant G-protein-coupled receptors, and intra-adrenal secretion of ACTH. Accurate subtyping of Cushing's syndrome is crucial for treatment decision-making and requires a complete integration of clinical, biochemical, imaging and pathology findings. Pathological correlates in the adrenal glands include hyperplasia, adenoma and carcinoma. While the most common presentation is diffuse adrenocortical hyperplasia secondary to excess ACTH production, this entity is usually treated with pituitary or ectopic tumour resection. Therefore, when confronted with adrenalectomy specimens in the setting of Cushing's syndrome, surgical pathologists are most commonly exposed to adrenocortical adenomas, carcinomas and primary macronodular or micronodular hyperplasia. This review provides an update on the rapidly evolving knowledge of adrenal Cushing's syndrome and discusses the clinicopathological correlations of this important disease. Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://group.bmj.com/group/rights-licensing/permissions.

Clinicopathological correlates of adrenal Cushing's syndrome.

PubMed

Duan, Kai; Gomez Hernandez, Karen; Mete, Ozgur

2015-03-01

Endogenous Cushing's syndrome is a rare endocrine disorder that incurs significant cardiovascular morbidity and mortality, due to glucocorticoid excess. It comprises adrenal (20%) and non-adrenal (80%) aetiologies. While the majority of cases are attributed to pituitary or ectopic corticotropin (ACTH) overproduction, primary cortisol-producing adrenal cortical lesions are increasingly recognised in the pathophysiology of Cushing's syndrome. Our understanding of this disease has progressed substantially over the past decade. Recently, important mechanisms underlying the pathogenesis of adrenal hypercortisolism have been elucidated with the discovery of mutations in cyclic AMP signalling (PRKACA, PRKAR1A, GNAS, PDE11A, PDE8B), armadillo repeat containing 5 gene (ARMC5) a putative tumour suppressor gene, aberrant G-protein-coupled receptors, and intra-adrenal secretion of ACTH. Accurate subtyping of Cushing's syndrome is crucial for treatment decision-making and requires a complete integration of clinical, biochemical, imaging and pathology findings. Pathological correlates in the adrenal glands include hyperplasia, adenoma and carcinoma. While the most common presentation is diffuse adrenocortical hyperplasia secondary to excess ACTH production, this entity is usually treated with pituitary or ectopic tumour resection. Therefore, when confronted with adrenalectomy specimens in the setting of Cushing's syndrome, surgical pathologists are most commonly exposed to adrenocortical adenomas, carcinomas and primary macronodular or micronodular hyperplasia. This review provides an update on the rapidly evolving knowledge of adrenal Cushing's syndrome and discusses the clinicopathological correlations of this important disease. Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://group.bmj.com/group/rights-licensing/permissions.

Accessing Autonomic Function Can Early Screen Metabolic Syndrome

PubMed Central

Dai, Meng; Li, Mian; Yang, Zhi; Xu, Min; Xu, Yu; Lu, Jieli; Chen, Yuhong; Liu, Jianmin; Ning, Guang; Bi, Yufang

2012-01-01

Background Clinical diagnosis of the metabolic syndrome is time-consuming and invasive. Convenient instruments that do not require laboratory or physical investigation would be useful in early screening individuals at high risk of metabolic syndrome. Examination of the autonomic function can be taken as a directly reference and screening indicator for predicting metabolic syndrome. Methodology and Principal Findings The EZSCAN test, as an efficient and noninvasive technology, can access autonomic function through measuring electrochemical skin conductance. In this study, we used EZSCAN value to evaluate autonomic function and to detect metabolic syndrome in 5,887 participants aged 40 years or older. The EZSCAN test diagnostic accuracy was analyzed by receiver operating characteristic curves. Among the 5,815 participants in the final analysis, 2,541 were diagnosed as metabolic syndrome and the overall prevalence was 43.7%. Prevalence of the metabolic syndrome increased with the elevated EZSCAN risk level (p for trend <0.0001). Moreover, EZSCAN value was associated with an increase in the number of metabolic syndrome components (p for trend <0.0001). Compared with the no risk group (EZSCAN value 0–24), participants at the high risk group (EZSCAN value: 50–100) had a 2.35 fold increased risk of prevalent metabolic syndrome after the multiple adjustments. The area under the curve of the EZSCAN test was 0.62 (95% confidence interval [CI], 0.61–0.64) for predicting metabolic syndrome. The optimal operating point for the EZSCAN value to detect a high risk of prevalent metabolic syndrome was 30 in this study, while the sensitivity and specificity were 71.2% and 46.7%, respectively. Conclusions and Significance In conclusion, although less sensitive and accurate when compared with the clinical definition of metabolic syndrome, we found that the EZSCAN test is a good and simple screening technique for early predicting metabolic syndrome. PMID:22916265

Endothelial dysfunction in patients with obstructive sleep apnoea independent of metabolic syndrome.

PubMed

Amra, Babak; Karbasi, Elaheh; Hashemi, Mohammad; Hoffmann-Castendiek, Birgit; Golshan, Mohammad

2009-05-01

Obstructive sleep apnoea syndrome (OSAS), characterised by intermittent hypoxia/re-oxygenation, has been identified as an independent risk factor for cardiovascular diseases and endothelial dysfunction. Our aim was to investigate flow-mediated dilatation (FMD) in patients with obstructive sleep apnoea with and without metabolic syndrome. Fifty-two subjects with OSAS diagnosed by polysomnography were classified into 2 groups according to the presence and absence of the metabolic syndrome and also according to the severity: mild to moderate OSAS group and severe OSAS group. Endothelial function of the brachial artery was evaluated by using high-resolution vascular ultrasound. Endothelial-dependent dilatation (EDD) was assessed by establishing reactive hyperaemia and endothelial-independent dilatation (EID) was determined by using sublingual isosorbide dinitrate. Spearman correlation and regression analysis were performed. EDD was not significantly different in patients with OSAS and metabolic syndrome as compared with OSAS without metabolic syndrome (4.62 +/- 0.69 versus 4.49 +/- 0.93, P >0.05). Endothelial dysfunction in OSA may be independent of metabolic syndrome.

Communication Profiles of Adolescents with Down Syndrome.

ERIC Educational Resources Information Center

Rosin, Margaret M.; And Others

1988-01-01

The study compared communication patterns of male adolescents with Down Syndrome with males matched for chronological age and mental age. The Down Syndrome group was significantly different for mean length of utterance, comprehension of syntax, single word articulation, selected diadochokinetic tasks, and some aerodynamic tasks. (Author/JDD)

An Indirect Examination of the Function of Problem Behavior Associated with Fragile X Syndrome and Smith-Magenis Syndrome

ERIC Educational Resources Information Center

Langthorne, Paul; McGill, Peter

2012-01-01

Fragile X syndrome (FXS) and Smith-Magenis syndrome (SMS) are associated with a number of specific topographies of problem behavior. Very few studies have examined the function served by problem behavior in these groups. Using the Questions About Behavioral Function scale Matson and Vollmer (User's guide: questions about behavioral function…

The People with Asperger syndrome and anxiety disorders (PAsSA) trial: a pilot multicentre, single-blind randomised trial of group cognitive–behavioural therapy

PubMed Central

Murphy, Glynis H.; Shepstone, Lee; Wilson, Edward C.F.; Fowler, David; Heavens, David; Malovic, Aida; Russell, Alexandra; Rose, Alice; Mullineaux, Louise

2016-01-01

Background There is a growing interest in using cognitive–behavioural therapy (CBT) with people who have Asperger syndrome and comorbid mental health problems. Aims To examine whether modified group CBT for clinically significant anxiety in an Asperger syndrome population is feasible and likely to be efficacious. Method Using a randomised assessor-blind trial, 52 individuals with Asperger syndrome were randomised into a treatment arm or a waiting-list control arm. After 24 weeks, those in the waiting-list control arm received treatment, while those initially randomised to treatment were followed up for 24 weeks. Results The conversion rate for this trial was high (1.6:1), while attrition was 13%. After 24 weeks, there was no significant difference between those randomised to the treatment arm compared with those randomised to the waiting-list control arm on the primary outcome measure, the Hamilton Rating Scale for Anxiety. Conclusions Trials of psychological therapies with this population are feasible. Larger definitive trials are now needed. Declaration of interest None. Copyright and usage © The Royal College of Psychiatrists 2016. This is an open access article distributed under the terms of the Creative Commons Attribution (CC BY) licence. PMID:27703772

Worldwide distribution of Waardenburg syndrome.

PubMed

Nayak, Chetan S; Isaacson, Glenn

2003-09-01

To clarify the multiracial occurrence of Waardenburg syndrome, we present a case series and literature review. A computerized review of the English-language literature was conducted to assess the distribution of reported occurrences of Waardenburg syndrome in populations around the world. We detail the clinical features of 2 family cohorts: one of Western European origin and the other from South Asia. A computerized literature review found sporadic cases of the syndrome in many ethnic groups, including Japanese, Taiwanese, and Middle Eastern families. The highest reported incidence is among Kenyan Africans. Waardenburg syndrome accounts for between 2% and 5% of cases of congenital deafness. It was first described in Northern European cohorts and is widely identified in fair-skinned populations. We hope to raise awareness of the worldwide distribution of this important cause of hearing loss.

Impaired processing speed and attention in first-episode drug naive schizophrenia with deficit syndrome.

PubMed

Chen, Ce; Jiang, Wenhui; Zhong, Na; Wu, Jin; Jiang, Haifeng; Du, Jiang; Li, Ye; Ma, Xiancang; Zhao, Min; Hashimoto, Kenji; Gao, Chengge

2014-11-01

Although first-episode drug naive patients with schizophrenia are known to show cognitive impairment, the cognitive performances of these patients, who suffer deficit syndrome, compared with those who suffer non-deficit syndrome is undetermined. The aim of this study was to compare cognitive performances in first-episode drug-naive schizophrenia with deficit syndrome or non-deficit syndrome. First-episode drug naive patients (n=49) and medicated patients (n=108) with schizophrenia, and age, sex, and education matched healthy controls (n=57 for the first-episode group, and n=128 for the medicated group) were enrolled. Patients were divided into deficit or non-deficit syndrome groups, using the Schedule for Deficit Syndrome. Cognitive performance was assessed using the CogState computerized cognitive battery. All cognitive domains in first-episode drug naive and medicated patients showed significant impairment compared with their respective control groups. Furthermore, cognitive performance in first-episode drug naive patients was significantly worse than in medicated patients. Interestingly, the cognitive performance markers of processing speed and attention, in first-episode drug naive patients with deficit syndrome, were both significantly worse than in equivalent patients without deficit syndrome. In contrast, no differences in cognitive performance were found between the two groups of medicated patients. In conclusion, this study found that first-episode drug naive schizophrenia with deficit syndrome showed significantly impaired processing speed and attention, compared with patients with non-deficit syndrome. These findings highlight processing speed and attention as potential targets for pharmacological and psychosocial interventions in first-episode schizophrenia with deficit syndrome, since these domains are associated with social outcomes. Copyright © 2014 Elsevier B.V. All rights reserved.

Low basal salivary flow and burning mouth syndrome: new evidence in this enigmatic pathology.

PubMed

Spadari, Francesco; Venesia, Paolo; Azzi, Lorenzo; Veronesi, Giovanni; Costantino, Dario; Croveri, Fabio; Farronato, Davide; Tagliabue, Angelo; Tettamanti, Lucia

2015-03-01

Burning mouth syndrome remains a puzzling condition. One symptom commonly associated with the burning sensation is xerostomia. The current study measured basal and stimulated salivary flow in a group of burning mouth syndrome patients. Three groups of patients were recruited: 44 burning mouth syndrome patients, 27 oral lichen planus patients and 40 healthy patients. We chose to measure basal salivary flow and stimulated salivary flow in the three groups of patients using the 'spitting' method. Thus, the patients were asked to spit every minute for 5 min. Afterwards, they were asked to repeat the procedure a second time, but a drop of citric acid was positioned on their tongue every minute to stimulate salivary secretion. After 14 days, the same procedure was repeated for 15 min. Although there was no significant difference between the burning mouth syndrome group and the other two groups regarding the stimulated volumes, an important difference was found in the basal volumes, with the burning mouth syndrome patients showing lower values. The outcomes of our research demonstrate the presence of very low basal salivary flow in burning mouth syndrome patients compared with the other two groups, but the stimulated salivary flow was equal, if not higher, in the burning mouth syndrome patients. This study contributes new topics for further investigation of a solution to the very mysterious pathology represented by burning mouth syndrome. © 2014 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

[Practical update of Tsaktubo syndrome].

PubMed

Núñez-Gil, Iván J; Mejía-Rentería, Hernán D; Martínez-Losas, Pedro

2016-03-04

Takotsubo syndrome, apical ballooning or «broken heart» syndrome, is a growing diagnostic entity which clinically mimics an acute coronary syndrome. Included into the stress cardiomyopathy group of cardiopathies, this condition is characterized by the absence of potentially responsible coronary lesions, while displaying a transient abnormal ventricular motion, usually affecting various coronary territories. It is generally observed in postmenopausal women and frequently seen in the presence of a stressful situation, both physical and emotional. With a prevalence of 1.2% among patients undergoing a cardiac catheterization with a suspected diagnosis of acute coronary syndromes, Takotsubo syndrome usually has a good prognosis. However, complications can occur in the acute phase, generally heart failure, which can even lead to death. In this review we discuss the latest available information on this disease and present it in a practical and useful way for the attending physician. Copyright © 2015 Elsevier España, S.L.U. All rights reserved.

[Joubert syndrome and related disorders].

PubMed

Paprocka, Justyna; Jamroz, Ewa

2012-01-01

The cerebellum plays a role not only in motor control but also in motor learning and cognition. Joubert syndrome is a rare heterogeneous inherited genetic disorder characterized by ataxia, hypotonia, developmental delay, and at least one of the following features: neonatal respiratory disturbances or abnormal eye movement. The estimated frequency of Joubert syndrome in the United States is around 1 : 100 000. The term Joubert syndrome and related disorders (JSRD) has been recently coined to describe all disorders presenting with molar tooth sign on brain neuroimaging. Joubert syndrome is believed to be a representative of a new group of disorders named ciliopathies. The identification of seven causal genes (NPHP1, AHI1, CEP290, RPGRIP1L, TMEM67/MKS3, ARL13B, CC2D2A) has led to substantial progress in the understanding of the genetic basis of Joubert syndrome. The authors focus on clinical presentation of JSRD, differential diagnosis and molecular background.

Pharmacological reversal of synaptic plasticity deficits in the mouse model of fragile X syndrome by group II mGluR antagonist or lithium treatment.

PubMed

Choi, Catherine H; Schoenfeld, Brian P; Bell, Aaron J; Hinchey, Paul; Kollaros, Maria; Gertner, Michael J; Woo, Newton H; Tranfaglia, Michael R; Bear, Mark F; Zukin, R Suzanne; McDonald, Thomas V; Jongens, Thomas A; McBride, Sean M J

2011-03-22

Fragile X syndrome is the leading single gene cause of intellectual disabilities. Treatment of a Drosophila model of Fragile X syndrome with metabotropic glutamate receptor (mGluR) antagonists or lithium rescues social and cognitive impairments. A hallmark feature of the Fragile X mouse model is enhanced mGluR-dependent long-term depression (LTD) at Schaffer collateral to CA1 pyramidal synapses of the hippocampus. Here we examine the effects of chronic treatment of Fragile X mice in vivo with lithium or a group II mGluR antagonist on mGluR-LTD at CA1 synapses. We find that long-term lithium treatment initiated during development (5-6 weeks of age) and continued throughout the lifetime of the Fragile X mice until 9-11 months of age restores normal mGluR-LTD. Additionally, chronic short-term treatment beginning in adult Fragile X mice (8 weeks of age) with either lithium or an mGluR antagonist is also able to restore normal mGluR-LTD. Translating the findings of successful pharmacologic intervention from the Drosophila model into the mouse model of Fragile X syndrome is an important advance, in that this identifies and validates these targets as potential therapeutic interventions for the treatment of individuals afflicted with Fragile X syndrome. Copyright © 2010 Elsevier B.V. All rights reserved.

The association between the metabolic syndrome and metabolic syndrome score and pulmonary function in non-smoking adults.

PubMed

Yoon, Hyun; Gi, Mi Young; Cha, Ju Ae; Yoo, Chan Uk; Park, Sang Muk

2018-03-01

This study assessed the association of metabolic syndrome and metabolic syndrome score with the predicted forced vital capacity and predicted forced expiratory volume in 1 s (predicted forced expiratory volume in 1 s) values in Korean non-smoking adults. We analysed data obtained from 6684 adults during the 2013-2015 Korean National Health and Nutrition Examination Survey. After adjustment for related variables, metabolic syndrome ( p < 0.001) and metabolic syndrome score ( p < 0.001) were found to be inversely associated with the predicted forced vital capacity and forced expiratory volume in 1 s values. The odds ratios of restrictive pulmonary disease (the predicted forced vital capacity < 80.0% with forced expiratory volume in 1 s/FVC ⩾ 70.0%) by metabolic syndrome score with metabolic syndrome score 0 as a reference group showed no significance for metabolic syndrome score 1 [1.061 (95% confidence interval, 0.755-1.490)] and metabolic syndrome score 2 [1.247 (95% confidence interval, 0.890-1.747)], but showed significant for metabolic syndrome score 3 [1.433 (95% confidence interval, 1.010-2.033)] and metabolic syndrome score ⩾ 4 [1.760 (95% confidence interval, 1.216-2.550)]. In addition, the odds ratio of restrictive pulmonary disease of the metabolic syndrome [1.360 (95% confidence interval, 1.118-1.655)] was significantly higher than those of non-metabolic syndrome. Metabolic syndrome and metabolic syndrome score were inversely associated with the predicted forced vital capacity and forced expiratory volume in 1 s values in Korean non-smoking adults. In addition, metabolic syndrome and metabolic syndrome score were positively associated with the restrictive pulmonary disease.

Smoking Cessation without Educational Instruction could Promote the Development of Metabolic Syndrome.

PubMed

Takayama, Shin; Takase, Hiroyuki; Tanaka, Takamitsu; Sugiura, Tomonori; Ohte, Nobuyuki; Dohi, Yasuaki

2018-01-01

Smoking cessation is particularly important for maintaining health; however, the subsequent risk of an increased body weight is of major concern. The present study investigated the influence of smoking cessation on the incidence of metabolic syndrome and its components in the Japanese general population. This study enrolled individuals without metabolic syndrome or a history of smoking via our annual health checkup program (n=5,702, 55.2±11.5 years). Participants were divided into three groups mentioned below and followed up with the endpoint being the development of metabolic syndrome: (1) subjects who had never smoked and did not smoke during the observation period (non-smoker); (2) those who continued smoking during the observation period (continuous smoker); and (3) those who ceased smoking during the observation period (smoking cessation). During the observation period (median 1,089 days), 520 subjects developed metabolic syndrome, and Kaplan-Meier analysis showed a higher incidence of metabolic syndrome in the smoking cessation group than in the other groups. Smoking cessation was confirmed as an independent predictor of the new onset of metabolic syndrome by multivariate Cox proportional hazard analysis after adjustment. Subjects only from the smoking cessation group showed a significant deterioration in metabolic factors during the study in correlation with an increased waist circumference after smoking cessation. Smoking cessation without instruction could be followed by the development of metabolic syndrome, and the incidence of metabolic syndrome might reduce the benefit obtained from smoking cessation. Therefore, further educational outreach is needed to prevent the progression of metabolic syndrome during the course of smoking cessation.

Metabolic Syndrome and Breast Cancer Risk.

PubMed

Wani, Burhan; Aziz, Shiekh Aejaz; Ganaie, Mohammad Ashraf; Mir, Mohammad Hussain

2017-01-01

The study was meant to estimate the prevalence of metabolic syndrome in patients with breast cancer and to establish its role as an independent risk factor on occurrence of breast cancer. Fifty women aged between 40 and 80 years with breast cancer and fifty controls of similar age were assessed for metabolic syndrome prevalence and breast cancer risk factors, including age at menarche, reproductive status, live births, breastfeeding, and family history of breast cancer, age at diagnosis of breast cancer, body mass index, and metabolic syndrome parameters. Metabolic syndrome prevalence was found in 40.0% of breast cancer patients, and 18.0% of those in control group ( P = 0.02). An independent and positive association was seen between metabolic syndrome and breast cancer risk (odds ratio = 3.037; 95% confidence interval 1.214-7.597). Metabolic syndrome is more prevalent in breast cancer patients and is an independent risk factor for breast cancer.

Aberrant face and gaze habituation in fragile x syndrome.

PubMed

Bruno, Jennifer Lynn; Garrett, Amy S; Quintin, Eve-Marie; Mazaika, Paul K; Reiss, Allan L

2014-10-01

The authors sought to investigate neural system habituation to face and eye gaze in fragile X syndrome, a disorder characterized by eye-gaze aversion, among other social and cognitive deficits. Participants (ages 15-25 years) were 30 individuals with fragile X syndrome (females, N=14) and a comparison group of 25 individuals without fragile X syndrome (females, N=12) matched for general cognitive ability and autism symptoms. Functional MRI (fMRI) was used to assess brain activation during a gaze habituation task. Participants viewed repeated presentations of four unique faces with either direct or averted eye gaze and judged the direction of eye gaze. Four participants (males, N=4/4; fragile X syndrome, N=3) were excluded because of excessive head motion during fMRI scanning. Behavioral performance did not differ between the groups. Less neural habituation (and significant sensitization) in the fragile X syndrome group was found in the cingulate gyrus, fusiform gyrus, and frontal cortex in response to all faces (direct and averted gaze). Left fusiform habituation in female participants was directly correlated with higher, more typical levels of the fragile X mental retardation protein and inversely correlated with autism symptoms. There was no evidence for differential habituation to direct gaze compared with averted gaze within or between groups. Impaired habituation and accentuated sensitization in response to face/eye gaze was distributed across multiple levels of neural processing. These results could help inform interventions, such as desensitization therapy, which may help patients with fragile X syndrome modulate anxiety and arousal associated with eye gaze, thereby improving social functioning.

Propofol Infusion Syndrome in Refractory Status Epilepticus

PubMed Central

Hwang, Woo Sub; Gwak, Hye Min; Seo, Dae-Won

2013-01-01

Background and Purpose: Propofol is used for treating refractory status epilepticus, which has high rate of mortality. Propofol infusion syndrome is a rare but often fatal syndrome, characterized by lactic acidosis, lipidemia, and cardiac failure, associated with propofol infusion over prolonged periods of time. We investigated the clinical factors that characterize propofol infusion syndrome to know the risk of them in refractory status epilepticus. Methods: This retrospective observation study was conducted in Samsung medical center from Jan. 2005 to Dec. 2009. Thirty two patients (19 males, 13 females, aged between 16 and 64 years), with refractory status epilepsy were included. Their clinical findings and treatment outcomes were evaluated retrospectively. We divided our patients into established status epilepticus (ESE) and refractory status epilepticus (RSE). And then the patients with RSE was further subdivided into propofol treatment group (RSE-P) and the other anesthetics treatment group (RSE-O). We analyzed the clinical characteristics by comparison of the groups. Results: There were significant differences of hypotension and lipid change between ESE and RSE (p<0.05). However, there was no significant difference between RSE-P and RSE-O groups. The hospital days were longer in RSE than in ESE (p=0.012) and treatment outcome was also worse in RSE than in ESE (p=0.007) but there were no significant differences of hospital stays and treatment outcome between RSE-P and RSE-O. Conclusions: RSE is very critical disease with high mortality, which may show as many clinical changes as propofol infusion syndrome. Therefore propofol infusion syndrome might be considered as one of the clinical manifestations of RSE. PMID:24649467

Pragmatic Language Impairment and Social Deficits in Williams Syndrome: A Comparison with Down's Syndrome and Specific Language Impairment

ERIC Educational Resources Information Center

Laws, Glynis; Bishop, Dorothy V. M.

2003-01-01

The social communication strength of individuals with Williams syndrome described by some researchers contrasts with the picture of social difficulties painted by others. To study the pragmatic aspects of language, social relationships and unusual interests in a group of children and adults with Williams syndrome, and to compare them with a group…

The association between rehabilitation programs and metabolic syndrome in chronic inpatients with schizophrenia.

PubMed

Lin, Yi-Chun; Lai, Chien-Liang; Chan, Hung-Yu

2017-12-02

The correlation between different rehabilitation programs and the prevalence of metabolic syndrome in people with schizophrenia is unclear. We tested the association in chronic inpatients with schizophrenia of a psychiatric hospital in Taiwan. Patients with schizophrenia and age from 20 to 65 years old were included. The criteria of metabolic syndrome were according to the adapted Adult Treatment Protocol for Asians. According to different types of rehabilitations, patients were divided into work group, occupational therapy group and daily activities group. A total of 359 chronic inpatients with schizophrenia were recruited. Participants had a mean age of 45.9 years and the prevalence of metabolic syndrome was 37.3%. There was a significantly higher prevalence of metabolic syndrome in the work group than in the daily activity group (adjusted odds ratio (aOR) = 1.91, 95% CI = 1.019-3.564, p < 0.05) after adjusted related confounders. Other factors associated with higher prevalence of metabolic syndrome included old age, female gender, low psychotic symptoms severity and clozapine user. This study identified a high prevalence of metabolic syndrome in chronic inpatients with schizophrenia especially in patients with good occupational function. Further investigation of the relationship between the occupational function and metabolic syndrome is necessary for chronic inpatients with schizophrenia. Copyright © 2017 Elsevier B.V. All rights reserved.

Arousal Modulation in Females with Fragile X or Turner Syndrome

ERIC Educational Resources Information Center

Roberts, Jane; Mazzocco, Michele M. M.; Murphy, Melissa M.; Hoehn-Saric, Rudolf

2008-01-01

The present study was carried out to examine physiological arousal modulation (heart activity and skin conductance), across baseline and cognitive tasks, in females with fragile X or Turner syndrome and a comparison group of females with neither syndrome. Relative to the comparison group, for whom a greater increase in skin conductance was…

77 FR 35844 - Safety Zone; Olde Ellison Bay Days Fireworks Display, Ellison Bay, WI

Federal Register 2010, 2011, 2012, 2013, 2014

2012-06-15

... of Proposed Rulemaking A. Regulatory History and Information The Coast Guard is issuing this... of any grant or loan recipients, and will not raise any novel legal or policy issues. The safety zone...

A new proposal for a clinical-oriented subclassification of baboon syndrome and a review of baboon syndrome.

PubMed

Miyahara, Atsushi; Kawashima, Hisashi; Okubo, Yukari; Hoshika, Akinori

2011-06-01

To review baboon syndrome (BS). Date sources were obtained from PubMed and Google Scholar: Photographs of baboon syndrome were obtained from our patient. PubMed and Google Scholar were searched up to June 30, 2010. The search terms were "baboon syndrome", "SDRIFE" and "thimerosal allergy". Reverse references from relevant articles and Google Scholar were also used. As BS is a classical disease and cases of offending agents were relatively old, some references were more than five years old. In order to gather as many cases of offending agents as possible, more than 50 references were collected. We divided BS into as 4 groups; classical baboon syndrome, topical drug-induced baboon syndrome, systemic drug-induced baboon syndrome and symmetrical drug-related intertriginous and flexural exanthema (SDRIFE). The pathomechanism of BS is still unknown. A delayed type of hypersensitivity reaction, a recall phenomenon, pharmacologic interaction with immune-receptors and anatomical factors may be involved in the causation of BS.

Metabolic effects of polycystic ovary syndrome in adolescents

PubMed Central

Han, Yejin; Lee, Hye-Jin; Oh, Jee-Young; Sung, Yeon-Ah

2015-01-01

Purpose Polycystic ovary syndrome (PCOS) is characterized by hyperandrogenic anovulation in women of reproductive age. We investigated the metabolic effects of lean and overweight adolescents with PCOS. Methods Anthropometric measurements and biochemical parameters were evaluated in 49 adolescents with PCOS and 40 age- and body mass index (BMI)-matched controls. We further divided both PCOS and control groups into those having BMI within the normal range of less than 85th percentile and those being overweight and obese with a BMI greater than 85th percentile. Results Hemoglobin, gamma-glutamyl transferase (r-GT), total cholesterol, low-density lipoprotein-cholesterol and 2-hour postglucose load plasma insulin levels were significantly elevated in the lean PCOS group than in the lean control group. In the overweight/obese PCOS group, hemoglobin and r-GT levels were significantly elevated than in the overweight/obese control group. In the normal weight group, none of the subjects had metabolic syndrome according to the Adult Treatment Panel III criteria, but the incidence of metabolic syndrome in the overweight/obese PCOS group was 8.3% and that in the overweight/obese control group was 6.7%. Conclusion PCOS in adolescents causes metabolic abnormalities, underscoring the importance of early diagnosis of PCOS in oligomenorrheic adolescents. PMID:26512349

Obstructive Sleep Apnea Syndrome is Associated with Metabolic Syndrome among Adolescents and Youth in Beijing: Data from Beijing Child and Adolescent Metabolic Syndrome Study

PubMed Central

Qu, Xiao-Xue; Esangbedo, Issy C; Zhang, Xiu-Juan; Liu, Shu-Jun; Li, Lian-Xia; Gao, Shan; Li, Ming

2015-01-01

Background: Obstructive sleep apnea (OSA) syndrome has a negative impact on the health of millions of adolescents and youth. The aim of this study was to evaluate the associations of OSA syndrome with obesity and cardiometabolic risk factors among adolescents and youth at risk for metabolic syndrome (MS). Methods: A total of 558 subjects aged 14–28 years were recruited from the Beijing Child and Adolescent Metabolic Syndrome Study. Each underwent a 2-h oral glucose tolerance test (OGTT), echocardiography, and liver ultrasonography. Anthropometric measures, blood levels of glucose, lipids, and liver enzymes were assessed. Subjects with high or low risk for OSA were identified by Berlin Questionnaire (BQ). Results: Among the subjects in obesity, 33.7% of whom were likely to have OSA by BQ. Subjects with high risk for OSA had higher neck and waist circumference and fat mass percentage compared to those with low risk for OSA (P < 0.001). Moreover, significant differences in levels of lipids, glucose after OGTT, and liver enzymes, as well as echocardiographic parameters were found between the two groups with high or low risk for OSA (P < 0.05). The rates of nonalcoholic fatty liver disease (71.0% vs. 24.2%), MS (38.9% vs. 7.0%), and its components in high-risk group were significantly higher than in low-risk group. Conclusions: The prevalence of OSA by BQ was high in obese adolescents and youth. A high risk for OSA indicates a high cardiometabolic risk. Mechanisms mediating the observed associations require further investigation. PMID:26315072

Obstructive Sleep Apnea Syndrome is Associated with Metabolic Syndrome among Adolescents and Youth in Beijing: data from Beijing Child and Adolescent Metabolic Syndrome Study.

PubMed

Qu, Xiao-Xue; Esangbedo, Issy C; Zhang, Xiu-Juan; Liu, Shu-Jun; Li, Lian-Xia; Gao, Shan; Li, Ming

2015-09-05

Obstructive sleep apnea (OSA) syndrome has a negative impact on the health of millions of adolescents and youth. The aim of this study was to evaluate the associations of OSA syndrome with obesity and cardiometabolic risk factors among adolescents and youth at risk for metabolic syndrome (MS). A total of 558 subjects aged 14-28 years were recruited from the Beijing Child and Adolescent Metabolic Syndrome Study. Each underwent a 2-h oral glucose tolerance test (OGTT), echocardiography, and liver ultrasonography. Anthropometric measures, blood levels of glucose, lipids, and liver enzymes were assessed. Subjects with high or low risk for OSA were identified by Berlin Questionnaire (BQ). Among the subjects in obesity, 33.7% of whom were likely to have OSA by BQ. Subjects with high risk for OSA had higher neck and waist circumference and fat mass percentage compared to those with low risk for OSA (P < 0.001). Moreover, significant differences in levels of lipids, glucose after OGTT, and liver enzymes, as well as echocardiographic parameters were found between the two groups with high or low risk for OSA (P < 0.05). The rates of nonalcoholic fatty liver disease (71.0% vs. 24.2%), MS (38.9% vs. 7.0%), and its components in high-risk group were significantly higher than in low-risk group. The prevalence of OSA by BQ was high in obese adolescents and youth. A high risk for OSA indicates a high cardiometabolic risk. Mechanisms mediating the observed associations require further investigation.

Prenatal diagnosis of Bartter syndrome: amniotic fluid aldosterone.

PubMed

Rachid, Myriam L; Dreux, Sophie; Pean de Ponfilly, Gauthier; Vargas-Poussou, Rosa; Czerkiewicz, Isabelle; Chevenne, Didier; Oury, Jean-François; Deschênes, Georges; Muller, Françoise

2016-01-01

Bartter syndrome is a severe inherited tubulopathy characterized by postnatal salt wasting, severe polyuria, dehydration, failure to thrive and secondary hyperaldosteronism. Prenatally, the disease is usually discovered following the onset of severe polyhydramnios in the second trimester. We studied amniotic fluid aldosterone concentration in Bartter syndrome and in controls. Amniotic fluid aldosterone was assayed by radioimmunoassay. We undertook a retrospective case-control study based on 36 cases of prenatally suspected and postnatally confirmed Bartter syndrome (22 with identified mutations): and 72 gestational age matched controls presenting with polyhydramnios and 72 without polyhydramnios. Amniotic fluid aldosterone was compared between the three groups. The median amniotic fluid aldosterone concentration in the Bartter syndrome group (90 pg/mL) was not different from that in the controls with polyhydramnios (90 pg/mL, P = 0.33) or without polyhydramnios (87 pg/mL, P = 0.41). Amniotic fluid aldosterone assay cannot be used for prenatal diagnosis of Bartter syndrome. © 2015 John Wiley & Sons, Ltd. © 2015 John Wiley & Sons, Ltd.

Mother-child play: children with Down syndrome and typical development.

PubMed

Venuti, P; de Falco, S; Esposito, G; Bornstein, Marc H

2009-07-01

Child solitary and collaborative mother-child play with 21 children with Down syndrome and 33 mental-age-matched typically developing children were compared. In solitary play, children with Down syndrome showed less exploratory but similar symbolic play compared to typically developing children. From solitary to collaborative play, children with Down syndrome increased their exploratory play, attaining the same level as typically developing children. Pretense significantly increased from solitary to collaborative play only in typically developing children. Differences between mothers' play in the two groups mirrored those between their children. Both groups showed similar attunement and synchrony. Mothers contribute to the play development of children with Down syndrome through their own adaptation to their children's limitations and potentialities.

Assessment of symptoms of urinary incontinence in women with polycystic ovary syndrome.

PubMed

Montezuma, Thais; Antônio, Flávia Ignácio; Rosa e Silva, Ana Carolina Japur de Sá; Sá, Marcos Felipe Silva de; Ferriani, Rui Alberto; Ferreira, Cristine Homsi Jorge

2011-01-01

The pelvic floor muscles are sensitive to androgens, and due to hyperandrogenism, women with polycystic ovary syndrome can have increased mass in these muscles compared to controls. The aim of this study is to compare reports of urine leakage and quality of life between women with and without polycystic ovary syndrome. One hundred thirteen 18-to 40-year-old nulliparous women with polycystic ovary syndrome or without the disease (controls) were recruited at the University Hospital of School Medicine of São Paulo University at Ribeirão Preto City, Brazil. The subjects were not taking any hormonal medication, had not undergone previous pelvic surgery and did not exercise their pelvic floor muscles. The women were divided into the following four groups: I-polycystic ovary syndrome with normal body mass index (n = 18), II-polycystic ovary syndrome with body mass index >25 (n = 32), III-controls with normal body mass index (n = 29), and IV-controls with Body Mass Index >25 (n = 34). Quality of life was evaluated using the SF-36 questionnaire, and the subjects with urinary complaints also completed the International Consultation on Incontinence Questionnaire Short Form to evaluate the severity of their urinary incontinence. The replies to the International Consultation on Incontinence Questionnaire Short Form revealed a significant difference in urinary function between groups, with 24% of the subjects in group IV reporting urinary incontinence. The mean scores for the SF-36 questionnaire revealed that group II had the lowest quality of life. The control obese group (IV) reported a higher prevalence of urinary incontinence. There was no difference in the reported frequency of urine loss between the polycystic ovary syndrome and control groups with normal body mass index or between the polycystic ovary syndrome and control groups with body mass index >25.

Auditory evoked potentials in children and adolescents with Down syndrome.

PubMed

Gregory, Letícia; Rosa, Rafael F M; Zen, Paulo R G; Sleifer, Pricila

2018-01-01

Down syndrome, or trisomy 21, is the most common genetic alteration in humans. The syndrome presents with several features, including hearing loss and changes in the central nervous system, which may affect language development in children and lead to school difficulties. The present study aimed to investigate group differences in the central auditory system by long-latency auditory evoked potentials and cognitive potential. An assessment of 23 children and adolescents with Down syndrome was performed, and a control group composed of 43 children and adolescents without genetic and/or neurological changes was used for comparison. All children underwent evaluation with pure tone and vocal audiometry, acoustic immitance measures, long-latency auditory evoked potentials, and cognitive potential. Longer latencies of the waves were found in the Down syndrome group than the control group, without significant differences in amplitude, suggesting that individuals with Down syndrome have difficulty in discrimination and auditory memory. It is, therefore, important to stimulate and monitor these children in order to enable adequate development and improve their life quality. We also emphasize the importance of the application of auditory evoked potentials in clinical practice, in order to contribute to the early diagnosis of hearing alterations and the development of more research in this area. © 2017 Wiley Periodicals, Inc.

Genetics Home Reference: 47,XYY syndrome

MedlinePlus

... group of developmental conditions that affect communication and social interaction. Enlarge Frequency This condition occurs in about 1 in 1,000 newborn boys. Five to 10 boys with 47,XYY syndrome are born in the United States each ... Kushner H, Zinn AR, Reiss A, Bardsley MZ, McCauley E, Tartaglia N. Behavioral and social phenotypes in boys with 47,XYY syndrome or ...

Hypoglycemia-occipital syndrome: a specific neurologic syndrome following neonatal hypoglycemia?

PubMed

Karimzadeh, Parvaneh; Tabarestani, Sepideh; Ghofrani, Mohammad

2011-02-01

This study attempted to elaborate the existence of a specific neurologic pattern observed in children who experienced neonatal hypoglycemia. Twenty-seven patients with seizure and history of neonatal hypoglycemia were compared with 28 children suffering from idiopathic occipital epilepsy. In both groups the most common type of seizure activities included eye movements and impaired consciousness responding well to treatment; however, ictal vomiting was more common in controls. Subjects were in epileptic and nonepileptic groups. Ninety percent of cases showed abnormal signal of the posterior head region on magnetic resonance imaging (MRI). A large number showed posterior abnormalities on electroencephalography (EEG). Visual loss with abnormal visual evoked potential was the most frequent visual finding. Fifty-five percent showed mild psychomotor retardation. This study demonstrates that neonatal hypoglycemia can induce a syndrome with a specific clinical spectrum consisting of epilepsy, visual disturbances, and psychomotor retardation. Hypoglycemia-occipital syndrome is an entity without statistically significant semiologic differences from the idiopathic type.

Cephalometric and anthropometric data of obstructive apnea in different age groups.

PubMed

Borges, Paulo de Tarso Moura; Silva, Benedito Borges da; Moita Neto, José Machado; Borges, Núbia Evangelista de Sá; Li, Li M

2015-01-01

Patients with obstructive sleep apnea syndrome usually present with changes in upper airway morphology and/or body fat distribution, which may occur throughout life and increase the severity of obstructive sleep apnea syndrome with age. To correlate cephalometric and anthropometric measures with obstructive sleep apnea syndrome severity in different age groups. A retrospective study of cephalometric and anthropometric measures of 102 patients with obstructive sleep apnea syndrome was analyzed. Patients were divided into three age groups (≥20 and <40 years, ≥40 and <60 years, and ≥60 years). Pearson's correlation was performed for these measures with the apnea-hypopnea index in the full sample, and subsequently by age group. The cephalometric measures MP-H (distance between the mandibular plane and the hyoid bone) and PNS-P (distance between the posterior nasal spine and the tip of the soft palate) and the neck and waist circumferences showed a statistically significant correlation with apnea-hypopnea index in both the full sample and in the ≥40 and <60 years age group. These variables did not show any significant correlation with the other two age groups (<40 and ≥60 years). Cephalometric measurements MP-H and PNS-P and cervical and waist circumferences correlated with obstructive sleep apnea syndrome severity in patients in the ≥40 and <60 age group. Copyright © 2014 Associação Brasileira de Otorrinolaringologia e Cirurgia Cérvico-Facial. Published by Elsevier Editora Ltda. All rights reserved.

Ethnic disparities in metabolic syndrome in malaysia: an analysis by risk factors.

PubMed

Tan, Andrew K G; Dunn, Richard A; Yen, Steven T

2011-12-01

This study investigates ethnic disparities in metabolic syndrome in Malaysia. Data were obtained from the Malaysia Non-Communicable Disease Surveillance-1 (2005/2006). Logistic regressions of metabolic syndrome health risks on sociodemographic and health-lifestyle factors were conducted using a multiracial (Malay, Chinese, and Indian and other ethnic groups) sample of 2,366 individuals. Among both males and females, the prevalence of metabolic syndrome amongst Indians was larger compared to both Malays and Chinese because Indians are more likely to exhibit central obesity, elevated fasting blood glucose, and low high-density lipoprotein cholesterol. We also found that Indians tend to engage in less physical activity and consume fewer fruits and vegetables than Malays and Chinese. Although education and family history of chronic disease are associated with metabolic syndrome status, differences in socioeconomic attributes do not explain ethnic disparities in metabolic syndrome incidence. The difference in metabolic syndrome prevalence between Chinese and Malays was not statistically significant. Whereas both groups exhibited similar obesity rates, ethnic Chinese were less likely to suffer from high fasting blood glucose. Metabolic syndrome disproportionately affects Indians in Malaysia. Additionally, fasting blood glucose rates differ dramatically amongst ethnic groups. Attempts to decrease health disparities among ethnic groups in Malaysia will require greater attention to improving the metabolic health of Malays, especially Indians, by encouraging healthful lifestyle changes.

Ethnic Disparities in Metabolic Syndrome in Malaysia: An Analysis by Risk Factors

PubMed Central

Dunn, Richard A.; Yen, Steven T.

2011-01-01

Abstract Background This study investigates ethnic disparities in metabolic syndrome in Malaysia. Methods Data were obtained from the Malaysia Non-Communicable Disease Surveillance-1 (2005/2006). Logistic regressions of metabolic syndrome health risks on sociodemographic and health–lifestyle factors were conducted using a multiracial (Malay, Chinese, and Indian and other ethnic groups) sample of 2,366 individuals. Results Among both males and females, the prevalence of metabolic syndrome amongst Indians was larger compared to both Malays and Chinese because Indians are more likely to exhibit central obesity, elevated fasting blood glucose, and low high-density lipoprotein cholesterol. We also found that Indians tend to engage in less physical activity and consume fewer fruits and vegetables than Malays and Chinese. Although education and family history of chronic disease are associated with metabolic syndrome status, differences in socioeconomic attributes do not explain ethnic disparities in metabolic syndrome incidence. The difference in metabolic syndrome prevalence between Chinese and Malays was not statistically significant. Whereas both groups exhibited similar obesity rates, ethnic Chinese were less likely to suffer from high fasting blood glucose. Conclusions Metabolic syndrome disproportionately affects Indians in Malaysia. Additionally, fasting blood glucose rates differ dramatically amongst ethnic groups. Attempts to decrease health disparities among ethnic groups in Malaysia will require greater attention to improving the metabolic health of Malays, especially Indians, by encouraging healthful lifestyle changes. PMID:21815810

Genetic syndromes associated with overgrowth in childhood

PubMed Central

2013-01-01

Overgrowth syndromes comprise a diverse group of conditions with unique clinical, behavioral and molecular genetic features. While considerable overlap in presentation sometimes exists, advances in identification of the precise etiology of specific overgrowth disorders continue to improve clinicians' ability to make an accurate diagnosis. Among them, this paper introduces two classic genetic overgrowth syndromes: Sotos syndrome and Beckwith-Wiedemann syndrome. Historically, the diagnosis was based entirely on clinical findings. However, it is now understood that Sotos syndrome is caused by a variety of molecular genetic alterations resulting in haploinsufficiency of the NSD1 gene at chromosome 5q35 and that Beckwith-Wiedemann syndrome is caused by heterogeneous abnormalities in the imprinting of a number of growth regulatory genes within chromosome 11p15 in the majority of cases. Interestingly, the 11p15 imprinting region is also associated with Russell-Silver syndrome which is a typical growth retardation syndrome. Opposite epigenetic alterations in 11p15 result in opposite clinical features shown in Beckwith-Wiedemann syndrome and Russell-Silver syndrome. Although the exact functions of the causing genes have not yet been completely understood, these overgrowth syndromes can be good models to clarify the complex basis of human growth and help to develop better-directed therapies in the future. PMID:24904861

Interaction between the helicases genetically linked to Fanconi anemia group J and Bloom's syndrome

PubMed Central

Suhasini, Avvaru N; Rawtani, Nina A; Wu, Yuliang; Sommers, Joshua A; Sharma, Sudha; Mosedale, Georgina; North, Phillip S; Cantor, Sharon B; Hickson, Ian D; Brosh, Robert M

2011-01-01

Bloom's syndrome (BS) and Fanconi anemia (FA) are autosomal recessive disorders characterized by cancer and chromosomal instability. BS and FA group J arise from mutations in the BLM and FANCJ genes, respectively, which encode DNA helicases. In this work, FANCJ and BLM were found to interact physically and functionally in human cells and co-localize to nuclear foci in response to replication stress. The cellular level of BLM is strongly dependent upon FANCJ, and BLM is degraded by a proteasome-mediated pathway when FANCJ is depleted. FANCJ-deficient cells display increased sister chromatid exchange and sensitivity to replication stress. Expression of a FANCJ C-terminal fragment that interacts with BLM exerted a dominant negative effect on hydroxyurea resistance by interfering with the FANCJ–BLM interaction. FANCJ and BLM synergistically unwound a DNA duplex substrate with sugar phosphate backbone discontinuity, but not an ‘undamaged' duplex. Collectively, the results suggest that FANCJ catalytic activity and its effect on BLM protein stability contribute to preservation of genomic stability and a normal response to replication stress. PMID:21240188

Ehlers-Danlos syndrome(s) mimicking child abuse: Is there an impact on clinical practice?

PubMed

Castori, Marco

2015-12-01

Ehlers-Danlos syndrome is a heterogeneous group of heritable connective tissue disorders characterized by increased fragility of various non-ossified tissues. It is usually ascertained due to abnormal skin texture, scarring complications, vascular fragility, or chronic symptoms, such as fatigue and musculoskeletal pain. Sometimes, Ehlers-Danlos syndrome remains undetected until the patient, usually in the pediatric age, shows extensive or severe mucocutaneous injuries after only minor traumas. In this scenario, the misdiagnosis of Ehlers-Danlos syndrome with child abuse is a possibility, as occasionally reported in the literature. Recently, more attention was posed by lay people between the possible association of Ehlers-Danlos syndrome and bone fragility. Literature and personal experience show a strong association between Ehlers-Danlos syndrome, generalized joint hypermobility and reduced bone mass density in older children and adults, especially fertile women. The existence of a true increased risk of fracture in Ehlers-Danlos syndrome is still a matter of debate in children and adults with little and conflicting evidence. In case of suspected child abuse, Ehlers-Danlos syndrome is certainly on the differential for bruising, especially in EDS types with marked cutaneous and capillary involvement. In suspected child abuse cases, careful examination of the index case and her/his extended family is routine, as well as exclusion of other disorders such as osteogenesis imperfecta. The hypothesis of Ehlers-Danlos syndrome as an alternative explanation for infantile fractures remains speculative. © 2015 Wiley Periodicals, Inc.

[Gallbladder contractility in children with functional abdominal pain or irritable bowel syndrome].

PubMed

Iwańczak, Franciszek; Siedlecka-Dawidko, Jolanta; Iwanczak, Barbara

2013-07-01

III Rome Criteria of functional gastrointestinal disorders in children, distinguished the disturbances with abdominal pain, to which irritable bowel syndrome, functional abdominal pains, functional dyspepsia and abdominal migraine were included. THE AIM OF THE STUDY was sonographic assessment of the gallbladder and its contractility in functional abdominal pain and irritable bowel syndrome in children. The study comprised 96 children aged 6 to 18 years, 59 girls and 37 boys. Depending on diagnosis, the children were divided into three groups. 38 children with functional abdominal pain constituted the first group, 26 children with irritable bowel syndrome were included to the second group, the third group consisted of 32 healthy children (control group). Diagnosis of functional abdominal pain and irritable bowel syndrome was made based on the III Rome Criteria. In irritable bowel syndrome both forms with diarrhea (13) and with constipation (13) were observed. Anatomy and contractility of the gallbladder were assessed by ultrasound examination. The presence of septum, wall thickness, thick bile, vesicle volume in fasting state and 30th and 60th minute after test meal were taken into consideration. Test meal comprised about 15% of caloric requirement of moderate metabolism. Children with bile stones and organic diseases were excluded from the study. Thickened vesicle wall and thick bile were present more frequently in children with irritable bowel syndrome and functional abdominal pain than in control group (p < 0.02). Fasting vesicle volume was significantly greater in children with functional abdominal pain than in irritable bowel syndrome and control group (p = 0.003, p = 0.05). Vesicle contractility after test meal was greatest in children with functional abdominal pain. Evaluation of diminished (smaller than 30%) and enlarged (greater then 80%) gallbladder contractility at 30th and 60th minute after test meal demonstrated disturbances of contractility in children

Gelatinases and their tissue inhibitors in a group of subjects with obstructive sleep apnea syndrome.

PubMed

Hopps, Eugenia; Canino, Baldassare; Montana, Maria; Calandrino, Vincenzo; Urso, Caterina; Lo Presti, Rosalia; Caimi, Gregorio

2016-01-01

Obstructive sleep apnea syndrome (OSAS) is associated with an elevated risk of cardiovascular events and stroke. Matrix metalloproteinases (MMPs) are endopeptidases involved in extracellular matrix degradation and then in the development and progression of cardiovascular diseases. Our aim was to evaluate plasma levels of gelatinases (MMP-2 and MMP-9) and their tissue inhibitors (TIMP-1 and TIMP-2) in a group of subjects with OSAS. We enrolled 48 subjects (36 men and 12 women; mean age 49.7 ± 14.68 yrs) with OSAS diagnosed with a 1-night cardiorespiratory study and then we subdivided these subjects into two subgroups according to the apnea/hypopnea index (AHI): Low (L = 21 subjects with AHI <30) and High (H = 27 subjects with AHI >30). We measured plasma concentration of the gelatinases and their inhibitors using ELISA kits. We observed a significant increase in plasma concentration of MMP-9, MMP-2, TIMP-1 and TIMP-2 in the entire group of OSAS subjects and in the two subgroups, with higher levels in the H in comparison with the L subgroup. In the whole group of OSAS subjects we also noted a significant decrease in MMP-9/TIMP-1 ratio in comparison with normal controls. Only MMP-9 was significantly correlated with the severity of the disease, expressed as AHI, with the oxygen desaturation index and also with the mean oxygen saturation. MMPs pattern is altered in OSAS and significantly influenced by the severity of the disease; it probably contributes to the vascular remodeling that leads to the atherosclerotic disease and cardiovascular complications.

Charles Bonnet syndrome: a review.

PubMed

Schadlu, Anita P; Schadlu, Ramin; Shepherd, J Banks

2009-05-01

The aging of the population and the resultant increase in the number of patients with low vision due to age-related macular degeneration and other ocular diseases necessitate an increase in awareness of the Charles Bonnet syndrome among ophthalmic care providers. The clinical features of Charles Bonnet syndrome have been described by several different authors as formed visual hallucinations due to disturbances of the visual system in patients who are otherwise mentally normal. Theories regarding the causes underlying the Charles Bonnet syndrome are multifaceted and offer insight into the function of the visual system. The incidence of the Charles Bonnet syndrome varies among different population groups, but is underdiagnosed in most settings. Recent case reports of treatment options involve varied pharmacologic interventions, but visual improvement and patient reassurance remain the mainstays of treatment. As Charles Bonnet syndrome becomes more prevalent as the population ages, all physicians who care for low vision or elderly patients should be aware of its clinical characteristics and treatment options. Understanding of this syndrome by caregivers will lead to decreased anxiety among the patients who experience it. Further exploration of treatment options will be necessary in the future.

The association between blood lipid and phlegm turbidity syndrome of angina pectoris: a systematic review and meta-analysis.

PubMed

Kong, Dezhao; Wang, Yang; Liu, Yue; Zhang, Zhe; Liu, Guanghui; Qi, Wencheng; Xiao, Lei; Yuan, Dongchao; Yang, Guanlin

2014-08-01

A series of case-control studies have been conducted to investigate the association between blood lipid and phlegm turbidity syndrome of angina pectoris, but produced inconsistent results. We performed a meta-analysis to determine the association between blood lipid and phlegm turbidity syndrome of angina pectoris more precisely. Manual screening as well as screening of the China National Knowledge Infrastructure (CNKI), Chinese Journal full-text database (VIP), Wanfang database (WF), ScienceDirect, Pubmed, the Cochrane Library, and Embase were carried out for relevant literature. The formula was translated to calculate the pooled mean value and standard deviation value. The "Newcastle-Ottawa Quality Assessment Scale: Case-Control Studies" (NOS) was taken to assess the quality of the included studies. The Revman 5.2.6 software provided by "The Cochrane Collaboration" was used to analyze the collected data. The subgroup analysis was established according to the sample size proportion between the test group and the control group. Sensitivity analysis was constructed by using two different effect models. Besides, a funnel plot was created to analyze potential publication bias. No statistically meaningful difference existed between the test group and control group of total cholesterol (TC) and low-density lipoprotein-cholesterol (LDL-C) in non-Qi and yin deficiency syndrome (QYDS) and non-Yang deficiency syndrome (YDS) subgroup, whereas the two biotic indicators in the test group were higher than the non-phlegm syndrome group in other subgroups. Triglyceride (TG) in phlegm syndrome group showed superior to non-phlegm syndrome group in the rest subgroups except for the non-CCS (Cold coagulating syndrome)-non-YDS subgroup. High-density lipoprotein-cholesterol (HDL-C) levels of the phlegm group were lower than that of the non-phlegm group in all subgroups. When comparing with Traditional Chinese Medicine (TCM) syndromes of asthenia nature, such as YDS, QYDS, and heart qi

Cardiopulmonary Syndrome Overview

MedlinePlus

... to Cancer Off-Label Drug Use Access to Experimental Drugs Complementary & Alternative Medicine (CAM) CAM for Patients ... pressure on the heart. Treatment may be to control the symptoms of ... vena cava syndrome (SVCS) is a group of signs and symptoms that occur when the ...

Learning potential and cognitive abilities in preschool boys with fragile X and Down syndrome.

PubMed

Valencia-Naranjo, Nieves; Robles-Bello, Mª Auxiliadora

2017-01-01

Enhancing cognitive abilities is relevant when devising treatment plans. This study examined the performance of preschool boys with Down syndrome and fragile X syndrome in cognitive tasks (e.g., nonverbal reasoning and short-term memory), as well as in improving cognitive functions by means of a learning potential methodology. The basic scales corresponding to the Skills and Learning Potential Preschool Scale were administered to children with Down syndrome and others with fragile X syndrome, matched for chronological age and nonverbal cognitive development level. The fragile X syndrome group showed stronger performance on short-term memory tasks than the Down syndrome group prior to intervention, with no differences recorded in nonverbal reasoning tasks. In addition, both groups' cognitive performance improved significantly between pre- and post-intervention. However, learning potential relative to auditory memory was limited in both groups, and for rule-based categorization in Down syndrome children. The scale offered the opportunity to assess young children's abilities and identify the degree of cognitive modifiability. Furthermore, factors that may potentially affect the children's performance before and during learning potential assessment are discussed. Copyright © 2016 Elsevier Ltd. All rights reserved.

Efficacy and safety of rotigotine in Japanese patients with restless legs syndrome: a phase 3, multicenter, randomized, placebo-controlled, double-blind, parallel-group study.

PubMed

Inoue, Yuichi; Shimizu, Tetsuo; Hirata, Koichi; Uchimura, Naohisa; Ishigooka, Jun; Oka, Yasunori; Ikeda, Junji; Tomida, Takayuki; Hattori, Nobutaka

2013-11-01

We aimed to ascertain the efficacy and safety of transdermal rotigotine (2 and 3mg/24h) in Japanese patients with restless legs syndrome (RLS). In our double-blind placebo-controlled study, 284 Japanese patients with idiopathic RLS were randomly assigned to receive rotigotine 2mg/24h or 3mg/24h, or placebo, for 13 weeks. The primary endpoint was the change in International Restless Legs Syndrome Study Group rating scale (IRLS) total score. The placebo-subtracted decreases in IRLS total score for rotigotine 2 mg/24 h and 3 mg/24 h were -2.8±1.3 and -3.1±1.3, respectively, which were significant (P<0.05). The interaction between baseline Pittsburgh Sleep Quality Index (PSQI) and treatment group for the change in IRLS total score was significant, indicating greater improvements in IRLS total score in patients with severe insomnia. Overall, 80.0%, 86.2%, and 51.6% of patients in the rotigotine 2 mg/24 h, 3 mg/24 h, and placebo groups, respectively, experienced adverse events (AEs) including application site reactions in 42.1%, 50.0%, and 7.4% of patients, respectively. None of the AEs were severe. Our results showed that rotigotine was effective without major safety concerns at doses of up to 3 mg/24 h in Japanese patients with RLS. Copyright © 2013 Elsevier B.V. All rights reserved.

Theory of Mind in Adults with HFA and Asperger Syndrome

ERIC Educational Resources Information Center

Spek, Annelies A.; Scholte, Evert M.; Van Berckelaer-Onnes, Ina A.

2010-01-01

Theory of mind was assessed in 32 adults with HFA, 29 adults with Asperger syndrome and 32 neurotypical adults. The HFA and Asperger syndrome groups were impaired in performance of the Strange stories test and the Faux-pas test and reported more theory of mind problems than the neurotypical adults. The three groups did not differ in performance of…

Coping with the Usual Family Diet: Eating Behaviour and Food Choices of Children with Down's Syndrome, Autistic Spectrum Disorders or Cri du Chat Syndrome and Comparison Groups of Siblings.

ERIC Educational Resources Information Center

Collins, Margaret S. R.; Kyle, Rosalind; Smith, Suzanne; Laverty, Anne; Roberts, Sylvia; Eaton-Evans, Jill

2003-01-01

A study of 405 Irish children (ages 2-18) with Down syndrome, autism, and cri du chat syndrome, and 280 siblings found most had some level of self-feeding skills. Chewing problems were reported for some children, including siblings of children with Down syndrome and autism. Behavioral problems at meals were common. (Contains references.)…

The Serum Analysis of Dampness Syndrome in Patients with Coronary Heart Disease and Chronic Renal Failure Based on the Theory of “Same Syndromes in Different Diseases”

PubMed Central

Yuan, Xue; Bai, Guanfeng

2017-01-01

Aim To analyze the serum metabolites in patients with coronary heart disease (CHD) showing dampness syndrome and patients with chronic renal failure (CRF) showing dampness syndrome and to seek the substance that serves as the underlying basis of dampness syndrome in “same syndromes in different diseases.” Methods. Metabolic spectrum by GC-MS was performed using serum samples from 29 patients with CHD showing dampness syndrome and 32 patients with CRF showing dampness syndrome. The principal component analysis and statistical analysis of partial least squares were performed to detect the metabolites with different levels of expression in patients with CHD and CRF. Furthermore, by comparing the VIP value and data mining in METLIN and HMDB, we identified the common metabolites in both patient groups. Results (1) Ten differential metabolites were found in patients with CHD showing dampness syndrome when compared to healthy subjects. Meanwhile, nine differential metabolites were found in patients with CRF showing dampness syndrome when compared to healthy subjects. (2) There were 9 differential metabolites identified when the serum metabolites of the CHD patients with dampness syndrome were compared to those of CRF patients with dampness syndrome. There were 4 common metabolites found in the serums of both patient groups. PMID:28713825

A focus group assessment of patient perspectives on irritable bowel syndrome and illness severity.

PubMed

Drossman, Douglas A; Chang, Lin; Schneck, Susan; Blackman, Carlar; Norton, William F; Norton, Nancy J

2009-07-01

There is a growing need to understand from the patient's perspective the experience of irritable bowel syndrome (IBS) and the factors contributing to its severity; this has been endorsed by the Food and Drug Administration (FDA). Accordingly, we conducted focus groups to address this issue. A total of 32 patients with mostly moderate to severe IBS were recruited through advertising and were allocated into three focus groups based on predominant stool pattern. The focus groups were held using standard methodology to obtain a general assessment of the symptoms experienced with IBS, its impact, and of factors associated with self-perceived severity. Patients described IBS not only as symptoms (predominantly abdominal pain) but mainly as it affects daily function, thoughts, feelings and behaviors. Common responses included uncertainty and unpredictability with loss of freedom, spontaneity and social contacts, as well as feelings of fearfulness, shame, and embarrassment. This could lead to behavioral responses including avoidance of activities and many adaptations in routine in an effort for patients to gain control. A predominant theme was a sense of stigma experienced because of a lack of understanding by family, friends and physicians of the effects of IBS on the individual, or the legitimacy of the individual's emotions and adaptation behaviors experienced. This was a barrier to normal functioning that could be ameliorated through identifying with others who could understand this situation. Severity was linked to health-related quality of life (HRQOL) and was influenced by the intensity of abdominal pain and other symptoms, interference with and restrictions relating to eating, work, and social activities, and of the unpredictability of the condition. This study confirms the heterogeneous and multi-component nature of IBS. These qualitative data can be used in developing health status and severity instruments for larger-scale studies.

Wideband acoustic absorbance in children with Down syndrome.

PubMed

Durante, Alessandra Spada; Santos, Mayara; Roque, Nayara M C de F; Gameiro, Marcella S; Almeida, Katia de; Sousa Neto, Osmar Mesquita de

2018-01-10

Tympanometry is currently the most frequently used tool for assessing the status of the middle ear, commonly assessed using a single 226Hz tone. However, the use of the Acoustic Immittance Measures with a wideband stimulus is a promising high-resolution evaluation, especially in individuals known to have middle ear alterations, such as Down syndrome patients. The aim of this study was to analyze the acoustic absorbance measurements in children with Down syndrome. Cross-sectional study, approved by the institution's ethics committee. Data were collected from 30 children, with a mean age of 8.4 years, 15 with Down syndrome (DS-study group) and 15 children with typical development and no hearing complaints (control group). Energy absorbance was measured at frequencies of 226-8000Hz at ambient pressure and at peak pressure as a function of frequency using TITAN equipment. Statistical analysis was performed using the established level of statistical significance of 5%. With the 226Hz probe tone, 30 ears of the control group and 22 of the study group exhibited Type A tympanograms, whereas Type B was observed in eight children in the study group. The mean acoustic absorbance ratio of the study group was lower than that of the control group at frequencies centered at 2520Hz (p=0.008) for those with normal tympanometry results, and 226-4000Hz (p<0.03) for those with a Type B tympanometry curve. The low energy absorption in the presence of normal tympanograms in children with Down syndrome may suggest middle ear abnormalities. Copyright © 2018 Associação Brasileira de Otorrinolaringologia e Cirurgia Cérvico-Facial. Published by Elsevier Editora Ltda. All rights reserved.

Utility of Shear Wave Elastography for Differentiating Biliary Atresia From Infantile Hepatitis Syndrome.

PubMed

Wang, Xiaoman; Qian, Linxue; Jia, Liqun; Bellah, Richard; Wang, Ning; Xin, Yue; Liu, Qinglin

2016-07-01

The purpose of this study was to investigate the potential utility of shear wave elastography (SWE) for diagnosis of biliary atresia and for differentiating biliary atresia from infantile hepatitis syndrome by measuring liver stiffness. Thirty-eight patients with biliary atresia and 17 patients with infantile hepatitis syndrome were included, along with 31 healthy control infants. The 3 groups underwent SWE. The hepatic tissue of each patient with biliary atresia had been surgically biopsied. Statistical analyses for mean values of the 3 groups were performed. Optimum cutoff values using SWE for differentiation between the biliary atresia and control groups were calculated by a receiver operating characteristic (ROC) analysis. The mean SWE values ± SD for the 3 groups were as follows: biliary atresia group, 20.46 ± 10.19 kPa; infantile hepatitis syndrome group, 6.29 ± 0.99 kPa; and control group, 6.41 ± 1.08 kPa. The mean SWE value for the biliary atresia group was higher than the values for the control and infantile hepatitis syndrome groups (P < .01). The mean SWE values between the control and infantile hepatitis syndrome groups were not statistically different. The ROC analysis showed a cutoff value of 8.68 kPa for differentiation between the biliary atresia and control groups. The area under the ROC curve was 0.997, with sensitivity of 97.4%, specificity of 100%, a positive predictive value of 100%, and a negative predictive value of 96.9%. Correlation analysis suggested a positive correlation between SWE values and age for patients with biliary atresia, with a Pearson correlation coefficient of 0.463 (P < .05). The significant increase in liver SWE values in neonates and infants with biliary atresia supports their application for differentiating biliary atresia from infantile hepatitis syndrome.

Behavioral phenotypes of genetic syndromes with intellectual disability: comparison of adaptive profiles.

PubMed

Di Nuovo, Santo; Buono, Serafino

2011-10-30

The study of distinctive and consistent behaviors in the most common genetic syndromes with intellectual disability is useful to explain abnormalities or associated psychiatric disorders. The behavioral phenotypes revealed outcomes totally or partially specific for each syndrome. The aim of our study was to compare similarities and differences in the adaptive profiles of the five most frequent genetic syndromes, i.e. Down syndrome, Williams syndrome, Angelman syndrome, Prader-Willi syndrome, and Fragile-X syndrome (fully mutated), taking into account the relation with chronological age and the overall IQ level. The research was carried out using the Vineland Adaptive Behavior Scale (beside the Wechsler Intelligence scales to obtain IQ) with a sample of 181 persons (107 males and 74 females) showing genetic syndromes and mental retardation. Syndrome-based groups were matched for chronological age and mental age (excluding the Angelman group, presenting with severe mental retardation). Similarities and differences in the adaptive profiles are described, relating them to IQs and maladaptive behaviors. The results might be useful in obtaining a global index of adjustment for the assessment of intellectual disability level as well as for educational guidance and rehabilitative plans. Copyright © 2011 Elsevier Ireland Ltd. All rights reserved.

Ellis-van Creveld syndrome

MedlinePlus

... high-risk group, or who have a family history of EVC syndrome. Alternative Names ... In: Kliegman RM, Stanton BF, St. Geme JW, Schor NF, eds. Nelson Textbook of Pediatrics . 20th ed. Philadelphia, PA: Elsevier; 2016: ...

Effects of metabolic syndrome on the functional outcomes of corticosteroid injection for De Quervain tenosynovitis.

PubMed

Roh, Y H; Noh, J H; Gong, H S; Baek, G H

2017-06-01

Metabolic syndrome is a constellation of medical conditions that arise from insulin resistance and abnormal adipose deposition and function. In patients with metabolic syndrome and De Quervain tenosynovitis this might affect the outcome of treatment by local corticosteroid injection. A total of 64 consecutive patients with De Quervain tenosynovitis and metabolic syndrome treated with corticosteroid injection were age- and sex-matched with 64 control patients without metabolic syndrome. The response to treatment, including visual analogue scale score for pain, objective findings consistent with De Quervain tenosynovitis (tenderness at first dorsal compartment, Finkelstein test result), and Disability of the Arm, Shoulder, and Hand score were assessed at 6, 12, and 24 weeks follow-up. Treatment failure was defined as persistence of symptoms or surgical intervention. Prior to treatment, patients with metabolic syndrome had mean initial pain visual analogue scale and Disability of the Arm, Shoulder, and Hand scores similar to those in the control group. The proportion of treatment failure in the metabolic syndrome group (43%) was significantly higher than that in the control group (20%) at 6 months follow-up. The pain visual analogue scale scores in the metabolic syndrome group were higher than the scores in the control group at the 12- and 24-week follow-ups. The Disability of the Arm, Shoulder, and Hand scores of the metabolic syndrome group were higher (more severe symptoms) than those of the control group at the 12- and 24-week follow-ups. Although considerable improvements in symptom severity and hand function will likely occur in patients with metabolic syndrome, corticosteroid injection for De Quervain tenosynovitis is not as effective in these patients compared with age- and sex-matched controls in terms of functional outcomes and treatment failure. III.

Global and local music perception in children with Williams syndrome.

PubMed

Deruelle, Christine; Schön, Daniele; Rondan, Cécilie; Mancini, Josette

2005-04-25

Musical processing can be decomposed into the appreciation of global and local elements. This global/local dissociation was investigated with the processing of contour-violated and interval-violated melodies. Performance of a group of 16 children with Williams syndrome and a group of 16 control children were compared in a same-different task. Control participants were more accurate in detecting differences in the contour-violated than in the interval-violated condition while Williams syndrome individuals performed equally well in both conditions. This finding suggests that global precedence may occur at an early perceptual stage in normally developing children. In contrast, no such global precedence is observed in the Williams syndrome population. These data are discussed in the context of atypical cognitive profiles of individuals with Williams syndrome.

Overgrowth syndromes with vascular anomalies.

PubMed

Blei, Francine

2015-04-01

Overgrowth syndromes with vascular anomalies encompass entities with a vascular anomaly as the predominant feature vs those syndromes with predominant somatic overgrowth and a vascular anomaly as a more minor component. The focus of this article is to categorize these syndromes phenotypically, including updated clinical criteria, radiologic features, evaluation, management issues, pathophysiology, and genetic information. A literature review was conducted in PubMed using key words "overgrowth syndromes and vascular anomalies" as well as specific literature reviews for each entity and supportive genetic information (e.g., somatic mosaicism). Additional searches in OMIM and Gene Reviews were conducted for each syndrome. Disease entities were categorized by predominant clinical features, known genetic information, and putative affected signaling pathway. Overgrowth syndromes with vascular anomalies are a heterogeneous group of disorders, often with variable clinical expression, due to germline or somatic mutations. Overgrowth can be focal (e.g., macrocephaly) or generalized, often asymmetrically (and/or mosaically) distributed. All germ layers may be affected, and the abnormalities may be progressive. Patients with overgrowth syndromes may be at an increased risk for malignancies. Practitioners should be attentive to patients having syndromes with overgrowth and vascular defects. These patients require proactive evaluation, referral to appropriate specialists, and in some cases, early monitoring for potential malignancies. Progress in identifying vascular anomaly-related overgrowth syndromes and their genetic etiology has been robust in the past decade and is contributing to genetically based prenatal diagnosis and new therapies targeting the putative causative genetic mutations. Copyright © 2015 Mosby, Inc. All rights reserved.

Familial occurrence of pigment dispersion syndrome.

PubMed

Bovell, A M; Damji, K F; Dohadwala, A A; Hodge, W G; Allingham, R R

2001-02-01

Pigment dispersion syndrome affects up to 4% of the white population. It is characterized by the presence of transillumination defects, Krukenberg's spindle and dense trabecular meshwork pigmentation. Open-angle glaucoma will develop in as many as 50% of affected patients. In this study we describe the familial occurrence of pigment dispersion syndrome in six North American pedigrees and the phenotypic characteristics with respect to pigment dispersion syndrome and glaucoma. Probands with pigment dispersion syndrome were identified in glaucoma clinics at university eye centres in Ottawa and Durham, NC. Families with two or more affected members were evaluated. All willing members in each family underwent a thorough clinical examination and were classified as affected with pigment dispersion syndrome, suspect or unaffected. The previous medical records were reviewed to obtain the past medical and ocular history, including risk factors for glaucoma. All six families are white. Three families show at least two generations of affected members. Of the 43 subjects examined 58% were women. All 14 affected members showed moderate to heavy trabecular meshwork pigmentation and either Krukenberg's spindle or transillumination defects. The affected members were also considerably more myopic (mean spherical equivalent for the right eye -4.72 dioptres) than the suspect group or the unaffected group (mean spherical equivalent -0.79 D and +1.19 D respectively) (p < or = 0.001), and the intraocular pressure was higher for the affected than the unaffected group (mean for the right eye 20 mm Hg vs. 16 mm Hg) (p = 0.004). Half of those affected also had open-angle glaucoma. We have identified and phenotypically characterized six North American families with autosomal dominant pigment dispersion syndrome. Our ultimate goal is to identify the gene(s) that causes this disorder in order to clarify its molecular etiology and pathophysiology. This may give rise to a molecular classification

Paraneoplastic syndromes and autoimmune encephalitis

PubMed Central

Rosenfeld, Myrna R.; Titulaer, Maarten J.

2012-01-01

Summary We review novel findings in paraneoplastic syndromes including the Lambert-Eaton myasthenic syndrome, and then focus on the novel disorders associated with antibodies against cell surface antigens, discussing the importance and caveats of antibody testing, and providing an algorithm for interpretation of results. In anti-NMDAR encephalitis 2 novel findings include the recognition of a characteristic EEG pattern (“extreme delta brush”) in 30% of patients and the demonstration of a fronto-temporo-occipital gradient of glucose metabolism that correlates with disease activity. In limbic encephalitis, antibodies to GABA(B) receptor are the most frequently detected in patients with small-cell lung cancer who are anti-Hu negative, and antibodies to mGluR5 distinctively associate with Hodgkin lymphoma (Ophelia syndrome). We also address the syndromes associated with “VGKC-complex antibodies,” a problematic term that groups well-characterized immune-mediated disorders (LGI1, Caspr2) with others that lack syndrome specificity, are less responsive to treatment, and for which the target antigens are unknown. PMID:23634368

Decompressive L5 Transverse Processectomy for Bertolotti's Syndrome: A Preliminary Study.

PubMed

Ju, Chang Il; Kim, Seok Won; Kim, Jong Gyue; Lee, Seung Myung; Shin, Ho; Lee, Hyeun Young

2017-09-01

Bertolotti's syndrome is a spinal disorder characterized by abnormal enlargement of the transverse process of the most caudal lumbar vertebra. The L5 transverse process may be enlarged either unilaterally or bilaterally and may articulate or fuse with the sacrum or ilium. Pseudoarticulation between the transverse process of the L5 and the alar of the sacrum can cause buttock pain and leg pain. In addition, the L4 exiting nerve root could be compressed by an enlarged L5 transverse process. The authors could have obtained satisfactory results from the selected cases of Bertolotti's syndrome by applying a selective transverse processectomy of the L5. The objective of this study is to determine the effectiveness of L5 transverse processectomy for symptomatic Bertolotti's syndrome. A retrospective study. A total of 256 patients with Bertolotti's syndrome who had severe buttock pain and unilateral or bilateral radiating leg pain were selected. The correct diagnosis was made based on imaging studies which included computed tomography (CT), plain x-rays, and magnetic resonance imaging (MRI). The final diagnosis was made by confirming pain relief from anesthetic block. A total of 87 patients were classified into 2 groups: group A included 50 patients whose pain was relieved by block into the pseudoarticulation and group B included 37 patients whose pain was relieved by block into the L4 exiting nerve root. A total of 61 cases (group A: 39 cases, group B: 22 cases) were selected as pure L5 transverse processectomy. The primary outcome measures were reduction in pain scores and improvement in quality of life. Among 61 patients, there were 19 men and 42 women. The mean age of the patients was 53.2 ± 12 years (group A: 57.8 ± 14 years [16 - 86 years], group B: 53.4 ± 14 years [27 - 77 years]). The mean follow-up period was 6.5 months. The patients' mean visual analog scale (VAS) prior to surgery was 7.54 ± 0.81 (group A: 7.59 ± 0.93, group B: 7.50 ± 0.86), and the mean

[Frequency of NAFLD in a group of patients with metabolic syndrome in Veracruz, Mexico].

PubMed

Roesch-Dietlen, Federico; Dorantes-Cuéllar, Alicia; Carrillo-Toledo, Maria Graciela; Martínez-Sibaja, Cristina; Rojas-Carrera, Sonia; Bonilla-Rojas, Q C Sashenka; Uchino-Higueras, Virginia; Lagunas, Teresa; Carrasco-Arróniz, Miguel Angel; Soler-Leal, Bertha; León-Valdivieso, Johnatan; Cid-Juárez, Silvia; Martínez, José Angel

2006-01-01

Nonalcoholic fatty liver disease is a very common disease that is being described principally in obese, diabetic and hiperlipidemic patients without significant alcohol consumption (less than 28 ethanol Units per week). Nowadays it is considered as the hepatic manifestation of the metabolic syndrome. The frequency of Non Alcoholic Sreatohepatic (NASH) is 30 to 35% in general population, but it reaches to 70% in patients whose Body Mass Index (BMI) is above 30 kg/m2 as it occurs with diabetic patients. In Mexico there are only isolated reports about it's frequency, nearly 7.1% in general population and 18.5% in diabetic patients. To know the frequency of the Nonalcoholic fatty liver disease in patients who receive medical attention at the city of Veracruz. We studied 337 patients, who were divided into 4 groups: Normal Weight, Overweight, Obese and Diabetes type 2 patients. The individuals who reported previous hepatitis and alcohol consumption were excluded. All patients made a test in order to determinate: age, gender, presence of hepatic stigmata and complaints. Laboratory tests were done to all patients including: Blood glucose, seric lipids, transaminases, proteins and alkaline phosphatase. In those cases with impairment in transaminases results, it was done upper abdominal ultrasound (USG) and hepatic biopsy, in patients who accepted. We identified 53 cases (15.72%) with characteristics of Nonalcoholic fatty liver disease. The frequency in patient with normal weight and overweight was 7.14% to 7.76%, while in obese subjects it was 14.15% and 28% in diabetic patients; 73.58% of all patients were female and the other 28.41% were males. The average age of the group was 48.11 years, it was similar the specific age of the normal weight and obese patients, in overweight patients was 61.5 years and the average age in diabetics was 56.42 years. There were significant differences in the results of blood glucose level, glycosilated hemoglobin, cholesterol, seric lipid

Sequence of the toxic shock syndrome toxin gene (tstH) borne by strains of Staphylococcus aureus isolated from patients with Kawasaki syndrome.

PubMed Central

Deresiewicz, R L; Flaxenburg, J; Leng, K; Kasper, D L

1996-01-01

To explore whether a novel staphylococcal clone or structural variant of toxic shock syndrome toxin 1 is associated with Kawasaki syndrome, six toxigenic strains of Staphylococcus aureus from Kawasaki syndrome patients were studied. The strains were divisible into two groups based on phenotypic and genotypic characteristics and are therefore unequivocally not clonal. Portions of the tstH genes of each strain were sequenced. Three were sequenced in their entirety, while the remainder were sequenced from codon 66 to codon 137 of the mature protein only. Two of the former group differed slightly in the sequences of their signal peptides relative to the sequence published for the tstH signal peptide. Those differences did not affect toxin processing or secretion. The sequenced portions of the regions encoding mature toxic shock syndrome toxin 1 were identical in all six strains and corresponded exactly to the published sequence of tstH. No evidence was found for the existence of a structural variant of tstH uniquely associated with Kawasaki syndrome. PMID:8757881

Binaural masking release in children with Down syndrome.

PubMed

Porter, Heather L; Grantham, D Wesley; Ashmead, Daniel H; Tharpe, Anne Marie

2014-01-01

with Down syndrome and control adults had similar MLDs. Similarities in simulated spatial release from masking were observed for all groups for the experimental parameters used in this study. No association was observed for any measure of binaural ability and developmental age for children with Down syndrome. Similar group psychometric functions were observed for children with Down syndrome and typically developing children in most instances, suggesting that attentiveness and motivation contributed equally to performance for both groups on most tasks. The binaural advantages afforded to typically developing children, such as enhanced hearing sensitivity in noise, were not as robust for children with Down syndrome in this study. Children with Down syndrome experienced less binaural benefit than typically developing peers for some stimuli, suggesting that they could require more favorable signal-to-noise ratios to achieve optimal performance in some adverse listening conditions. The reduced release from masking observed for children with Down syndrome could represent a delay in ability rather than a deficit that persists into adulthood. This could have implications for the planning of interventions for individuals with Down syndrome.

[Obesity and metabolic syndrome in adolescents].

PubMed

Cárdenas Villarreal, Velia Margarita; Rizo-Baeza, María M; Cortés Castell, Ernesto

2009-03-01

In spite of the lack of a uniform definition for metabolic syndrome in pediatry, recent studies have shown that it develops during childhood and is highly prevalent among children and adolescents who suffer from obesity. In light of the current epidemic of obesity in this age category in western countries, and specifically in Mexico, it becomes essential to know the means to prevent, detect and treat this syndrome. Nurses play an important role in promoting childhood health with regards to metabolic syndrome. To put into practice the strategies which resolve underlying problems related with this syndrome is a priority for the well-being of this age group. These strategies should include the application and management of public policies; the collaboration by health services, social services and schools; but, furthermore, the prevention and the management of this syndrome require a family commitment, while the changes in living habits benefit the entire family. This review article proposes to introduce prevention, diagnostic and treatment strategies which nursing personnel can carry out while dealing with metabolic syndrome in adolescents.

Psychosocial Predictors of Metabolic Syndrome among Latino Groups in the Multi-Ethnic Study of Atherosclerosis (MESA)

PubMed Central

Ortiz, Manuel S.; Myers, Hector F.; Dunkel Schetter, Christine; Rodriguez, Carlos J.; Seeman, Teresa E.

2015-01-01

Objective We sought to determine the contribution of psychological variables to risk for metabolic syndrome (MetS) among Latinos enrolled in the Multi-Ethnic Study of Atherosclerosis (MESA), and to investigate whether social support moderates these associations, and whether inflammatory markers mediate the association between psychological variables and MetS. Research design and methods Cross-sectional analyses at study baseline were conducted with a national Latino cohort (n = 1,388) that included Mexican Americans, Dominican Americans, Puerto Rican Americans and Central/South Americans. Hierarchical logistic regression analyses were conducted to test the effects of psychosocial variables (chronic stress, depressive symptoms, and social support) on MetS. In addition, separate subgroup-specific models, controlling for nationality, age, gender, socioeconomic position, language spoken at home, exercise, smoking and drinking status, and testing for the effects of chronic stress, depressive symptoms and inflammation (IL-6, CRP, fibrinogen) in predicting risk for MetS were conducted. Results In the overall sample, high chronic stress independently predicted risk for MetS, however this association was found to be significant only in Mexican Americans and Puerto Rican Americans. Social support did not moderate the associations between chronic stress and MetS for any group. Chronic stress was not associated with inflammatory markers in either the overall sample or in each group. Conclusions Our results suggest a differential contribution of chronic stress to the prevalence of MetS by national groups. PMID:25906072

Amnioinfusion for the prevention of the meconium aspiration syndrome.

PubMed

Fraser, William D; Hofmeyr, Justus; Lede, Roberto; Faron, Gilles; Alexander, Sophie; Goffinet, François; Ohlsson, Arne; Goulet, Céline; Turcot-Lemay, Lucile; Prendiville, Walter; Marcoux, Sylvie; Laperrière, Louise; Roy, Chantal; Petrou, Stavros; Xu, Hai-Rong; Wei, Bin

2005-09-01

It is uncertain whether amnioinfusion (infusion of saline into the amniotic cavity) in women who have thick meconium staining of the amniotic fluid reduces the risk of perinatal death, moderate or severe meconium aspiration syndrome, or both. We performed a multicenter trial in which 1998 pregnant women in labor at 36 or more weeks of gestation who had thick meconium staining of the amniotic fluid were stratified according to the presence or absence of variable decelerations in fetal heart rate and then randomly assigned to amnioinfusion or to standard care. The composite primary outcome measure was perinatal death, moderate or severe meconium aspiration syndrome, or both. Perinatal death, moderate or severe meconium aspiration syndrome, or both occurred in 44 infants (4.5 percent) of women in the amnioinfusion group and 35 infants (3.5 percent) of women in the control group (relative risk, 1.26; 95 percent confidence interval, 0.82 to 1.95). Five perinatal deaths occurred in the amnioinfusion group and five in the control group. The rate of cesarean delivery was 31.8 percent in the amnioinfusion group and 29.0 percent in the control group (relative risk, 1.10; 95 percent confidence interval, 0.96 to 1.25). For women in labor who have thick meconium staining of the amniotic fluid, amnioinfusion did not reduce the risk of moderate or severe meconium aspiration syndrome, perinatal death, or other major maternal or neonatal disorders. Copyright 2005 Massachusetts Medical Society.

Gingival fibromatosis with hypertrichosis syndrome: Case series of rare syndrome.

PubMed

Balaji, Preetha; Balaji, S M

2017-01-01

Gingival fibromatosis with hypertrichosis syndrome is an extremely rare genetic condition characterized by profound overgrowth of hair and gums, as well as other variable features. Gingival fibromatosis is characterized by a large increase in the gingival dimension which extends above the dental crowns, covering them partially or completely. They were found to have a genetic origin, may also occur in isolation or be part of a syndrome, or acquired origin, due to specific drugs administered systemically. Congenital generalized hypertrichosis is a heterogeneous group of diseases with continuing excessive growth of terminal hair without androgenic stimulation. It has informally been called werewolf syndrome because the appearance is similar to that of a werewolf. Various syndromes have been associated with these features such as epilepsy, mental retardation, cardiomegaly, or osteochondrodysplasia. As so far very few cases have been reported in literature, we are reporting a series of three cases with management of the same. The excess gingival tissues, in these cases, were removed by conventional gingivectomy under general anesthesia. The postoperative result was uneventful and the patient's appearance improved significantly. Good esthetic result was achieved to allow patient to practice oral hygiene measures. Though this is not a serious condition clinically, psychosocial trauma cannot be neglected owing to the cosmetic disfigurement it produces.

Understanding Bartter syndrome and Gitelman syndrome.

PubMed

Fremont, Oliver T; Chan, James C M

2012-02-01

We aim to review the clinical features of two renal tubular disorders characterized by sodium and potassium wasting: Bartter syndrome and Gitelman syndrome. Selected key references concerning these syndromes were analyzed, together with a PubMed search of the literature from 2000 to 2011. The clinical features common to both conditions and those which are distinct to each syndrome were presented. The new findings on the genetics of the five types of Bartter syndrome and the discrete mutations in Gitelman syndrome were reviewed, together with the diagnostic workup and treatment for each condition. Patients with Bartter syndrome types 1, 2 and 4 present at a younger age than classic Bartter syndrome type 3. They present with symptoms, often quite severe in the neonatal period. Patients with classic Bartter syndrome type 3 present later in life and may be sporadically asymptomatic or mildly symptomatic. The severe, steady-state hypokalemia in Bartter syndrome and Gitelman syndrome may abruptly become life-threatening under certain aggravating conditions. Clinicians need to be cognizant of such renal tubular disorders, and promptly treat at-risk patients.

Salivary Periodontopathic Bacteria in Children and Adolescents with Down Syndrome

PubMed Central

Lopes Devito, Karina; Ribeiro, Luiz Cláudio

2016-01-01

Objective To assess and compare salivary periodontopathic bacteria between groups of Down syndrome and non-Down syndrome children and adolescents. Materials and Methods This study included a sample of 30 Down syndrome children and adolescents (G-DS) and 30 age- and sex-matched non-Down syndrome subjects (G-ND). Clinical examination determined the gingival bleeding index (GBI) and plaque index. Unstimulated whole saliva samples were collected from all participants. The fluorescence in situ hybridization (FISH) technique identified the presence and density of eight periodontopathic bacteria in saliva. The statistical analysis included chi-square and Mann-Whitney U tests. Results In the G-DS group, bleeding on probing was more frequent (p = 0.037) and higher densities of Campylobacter rectus (p = 0.013), Porphyromonas gingivalis (p = 0.025), Treponema denticola (p = 0.026), Fusobacterium nucleatum (p = 0.013), Prevotella intermedia (p = 0.001) and Prevotella nigrescens (p = 0.008) were observed. Besides, in the G-DS, the densities of bacteria from the orange complex were significantly higher in the age group 3–7 years for F. nucleatum (p = 0.029), P. intermedia (p = 0.001) and P. nigrescens (p = 0.006). C. rectus was higher in the age group 8–12 years (p = 0.045). Conclusion The results showed that children and adolescents with Down syndrome have higher susceptibility to periodontal disease and number of periodontopathic bacteria. PMID:27727287

Racial and ethnic differences in the prevalence of metabolic syndrome and its components of metabolic syndrome in women with polycystic ovary syndrome: a regional cross-sectional study.

PubMed

Chan, Jessica L; Kar, Sujata; Vanky, Eszter; Morin-Papunen, Laure; Piltonen, Terhi; Puurunen, Johanna; Tapanainen, Juha S; Maciel, Gustavo Arantes Rosa; Hayashida, Sylvia Asaka Yamashita; Soares, Jose Maria; Baracat, Edmund Chada; Mellembakken, Jan Roar; Dokras, Anuja

2017-08-01

Polycystic ovary syndrome is a heterogeneous disorder and its presentation varies with race and ethnicity. Reproductive-age women with polycystic ovary syndrome are at increased risk of metabolic syndrome; however, it is not clear if prevalence of metabolic syndrome and clustering of its components differs based on race and ethnicity. Moreover, the majority of these women do not undergo routine screening for metabolic syndrome. We sought to compare the prevalence of metabolic syndrome and clustering of its components in women with polycystic ovary syndrome in the United States with women in India, Brazil, Finland, and Norway. This is a cross-sectional study performed in 1089 women with polycystic ovary syndrome from 1999 through 2016 in 5 outpatient clinics in the United States, India, Brazil, Finland, and Norway. Polycystic ovary syndrome was defined by the Rotterdam criteria. Main outcome measures were: metabolic syndrome prevalence, blood pressure, body mass index, fasting high-density lipoprotein cholesterol, fasting triglycerides, and fasting glucose. Data from all sites were reevaluated for appropriate application of diagnostic criteria for polycystic ovary syndrome, identification of polycystic ovary syndrome phenotype, and complete metabolic workup. The US White women with polycystic ovary syndrome were used as the referent group. Logistic regression models were used to evaluate associations between race and metabolic syndrome prevalence and its components and to adjust for potential confounders, including age and body mass index. The median age of the entire cohort was 28 years. Women from India had the highest mean Ferriman-Gallwey score for clinical hyperandrogenism (15.6 ± 6.5, P < .001). The age-adjusted odds ratio for metabolic syndrome was highest in US Black women at 4.52 (95% confidence interval, 2.46-8.35) compared with US White women. When adjusted for age and body mass index, the prevalence was similar in the 2 groups. Significantly more Black

Structural differences within negative and depressive syndrome dimensions in schizophrenia, organic brain disease, and major depression: A confirmatory factor analysis of the positive and negative syndrome scale.

PubMed

Eisenberg, Daniel P; Aniskin, Dmitry B; White, Leonard; Stein, Judith A; Harvey, Philip D; Galynker, Igor I

2009-01-01

The emerging dimensional approach to classification and treatment of psychiatric disorders calls for better understanding of diagnosis-related variations in psychiatric syndromes and for proper validation of psychometric scales used for the evaluation of those syndromes. This study tested the hypothesis that negative and depressive syndromes as measured by the Positive and Negative Syndrome Scale (PANSS) are consistent across different diagnoses. We administered the PANSS to subjects with schizophrenia (n = 305), organic brain disease (OBD, n = 66) and major depressive disorder (MDD, n = 75). Confirmatory factor analysis (CFA) was used to establish if the PANSS items for negative symptoms and for depression fit the hypothesized factor structure and if the item factor loadings were similar among the diagnostic groups. The negative and depressive symptom subscales fit well according to a variety of fit indexes for all groups individually after some modest model modification. However, multisample modeling procedures indicated that the pattern of factor loadings was significantly different among the groups in most cases. The results of this study indicate diagnosis-related variations in the negative and depressive syndrome dimensions in schizophrenia, OBD and MDD. These results also validate limited use of the PANSS for evaluation of negative and depressive syndromes in disorders other than schizophrenia. Larger studies are warranted to further evaluate clinical and nosologic significance of diagnostic categories, dimensions and structures of psychiatric syndromes. 2009 S. Karger AG, Basel.

Children with Prader-Willi syndrome vs. Williams syndrome: indirect effects on parents during a jigsaw puzzle task.

PubMed

Ly, T M; Hodapp, R M

2005-12-01

Genetic disorders predispose individuals to exhibit characteristic behaviours, which in turn elicit particular behaviours from others. In response to the strength of Prader-Willi syndrome (PWS) and weakness of Williams syndrome (WS) in visual-spatial tasks such as jigsaw puzzles, parents' behaviours can be affected by their child's level of puzzle ability or syndrome diagnosis. Children were asked to complete two jigsaw puzzles (one with the experimenter and the other with the parent) for 5 min each. Frequencies of parental helping and reinforcement behaviours, along with ratings of parental directiveness, were examined as parents interacted with their children on a jigsaw puzzle task. Within each aetiological group, correlates of parental behaviours with child characteristics were also examined. Compared to parents of children with PWS, parents of children with WS engaged in a more directive style of interaction, and provided more help and reinforcement. Relative to parents of children with higher puzzle abilities (from both aetiologies), parents of children with lower abilities also showed the same pattern. Both the child's aetiology and puzzle abilities were important in predicting parents' directiveness and helping and reinforcement behaviours. Within the PWS group, parents' behaviours correlated negatively with the child's puzzle abilities and general cognitive functioning; no such relations occurred in the WS group. Parents' behaviours were affected by both the child's diagnosis and actual puzzle abilities, suggesting important implications for understanding and intervening with parents and children with different genetic syndromes.

Hypothermia in the sepsis syndrome and clinical outcome. The Methylprednisolone Severe Sepsis Study Group.

PubMed

Clemmer, T P; Fisher, C J; Bone, R C; Slotman, G J; Metz, C A; Thomas, F O

1992-10-01

To evaluate the consequences of clinical hypothermia associated with sepsis syndrome and septic shock. Analysis of data from a multi-institutional, randomized, placebo-controlled, prospective study with predetermined end-point analysis of development of shock, recovery from shock, hospital length of stay, and death. Multi-institutional medical and surgical ICUs. Patients meeting predetermined criteria for severe sepsis syndrome. Appropriate sepsis and shock care with 50% of patients receiving methylprednisolone and 50% receiving placebo. The occurrence rate of hypothermia (< 35.5 degrees C) is 9% in this population. When compared with febrile patients, hypothermic patients had a higher frequency of central nervous system dysfunction (88% vs. 60%), increased serum bilirubin concentration (35% vs. 15%), prolonged prothrombin times (50% vs. 23%), shock (94% vs. 61%), failure to recover from shock (66% vs. 26%), and death (62% vs. 26%). The hypothermic patients were also more likely to be classified as having a rapidly or ultimately fatal disease upon study admission. This prospective study confirms that hypothermia associated with sepsis syndrome has a significant relationship to outcome manifest by increased frequency of shock and death from shock. This finding is in sharp contrast to the protective effects of induced hypothermia in septic animals and perhaps man.

[Guiding-qi acupuncture for dry eye syndrome].

PubMed

Xie, Wenzhang; Zeng, Liang; Tao, Ying; Zhou, Yingfan; Zhao, Ran; Huang, Xinyun; Hou, Wenguang; Zhang, Ren; Zong, Lei

2018-02-12

To observe the clinical efficacy differences between different needling methods for dry eye syndrome. Sixty patients of dry eye syndrome were randomly divided into an observation group and a control group, 30 cases (60 eyes) in each group. Shangjingming (Extra), Xiajingming (Extra), Tongziliao (GB 1), Cuanzhu (BL 2), Fengchi (GB 20), Hegu (LI 4), Sanyinjiao (SP 6), Taixi (KI 3) and Taichong (LR 3) were selected in the two groups. The control group was treated with conventional acupuncture, while the observation group was treated with guiding- qi acupuncture. Electroacupuncture (EA) was used at bilateral Tongziliao (GB1) and Cuanzhu (BL 2), 30 min per treatment. The treatment was given three times per week. Totally 1-month treatment (12 treatments) was given. The eye symptom score, breakup time of tear film (BUT), Schirmer Ⅰ test (SⅠT) and visual analogue scale (VAS) score were compared before and after treatment in the two groups. The clinical efficacy was compared between the two groups. Compared before treatment, the eye symptom score, BUT, SⅠT and VAS score were improved after treatment in the two groups (all P <0.001); the improvements of eye symptom score and SⅠT in the observation group were superior to those in the control group (both P <0.05). The differences of BUT and VSA score between the two groups were not significant (both P >0.05). The total effective rate was 86.7% (52/60) in the observation group, which was superior to 73.3% (44/60) in the control group ( P <0.05). . The conventional EA and guiding- qi acupuncture combined with EA are both effective for dry eye syndrome, and the efficacy of guiding- qi acupuncture combined with EA is superior to that of conventional EA.

A Review of Differences in Clinical Characteristics between Tardive Syndrome Induced or Improved by Aripiprazole Treatment.

PubMed

Chen, Yen-Wen; Tseng, Ping-Tao

2016-09-15

Tardive syndrome is a troublesome complication secondary to the long-term usage of antipsychotic medication. At present, there is a lack of effective treatment for tardive syndrome. Aripiprazole has been used in the treatment of tardive syndrome, with some reports of a good response. However, other reports have suggested that tardive syndrome can actually be induced by aripiprazole. The aim of current study was to investigate whether aripiprazole is beneficial or harmful for the treatment of tardive syndrome in specific patients. We performed a thorough literature search via PubMed. We included all of the studies discussing the relationship between tardive syndrome and aripiprazole, either with regards to "inducing" or "improving" the disease. None of the included studies were well-designed clinical trials, and all were case reports or case series. A total of 26 articles were included in which aripiprazole induced tardive syndrome, and another 24 in which tardive syndrome was improved by aripiprazole treatment. In the "improved" group, there were significantly more cases of schizophrenia than in the "induced" group (p=0.002). However, there were significantly more cases with other miscellaneous diagnoses in the "induced" group than in the "improved" group (p=0.003). In addition, the cases in the "induced" group had a significantly longer duration of aripiprazole usage than those in the "improved" group (p=0.001). Current study is important for clinicians to pay attention to the risk of tardive syndrome when prescribing aripiprazole in patients with a diagnosis other than a psychiatric illness or in the long-term administration of aripiprazole.

Developmental delays in phonological recoding among children and adolescents with Down syndrome and Williams syndrome.

PubMed

Danielsson, Henrik; Henry, Lucy; Messer, David; Carney, Daniel P J; Rönnberg, Jerker

2016-08-01

This study examined the development of phonological recoding in short-term memory (STM) span tasks among two clinical groups with contrasting STM and language profiles: those with Down syndrome (DS) and Williams syndrome (WS). Phonological recoding was assessed by comparing: (1) performance on phonologically similar and dissimilar items (phonological similarity effects, PSE); and (2) items with short and long names (word length effects, WLE). Participant groups included children and adolescents with DS (n=29), WS (n=25) and typical development (n=51), all with average mental ages around 6 years. The group with WS, contrary to predictions based on their relatively strong verbal STM and language abilities, showed no evidence for phonological recoding. Those in the group with DS, with weaker verbal STM and language abilities, showed positive evidence for phonological recoding (PSE), but to a lesser degree than the typical group (who showed PSE and WLE). These findings provide new information about the memory systems of these groups of children and adolescents, and suggest that STM processes involving phonological recoding do not fit with the usual expectations of the abilities of children and adolescents with WS and DS. Copyright © 2016 Elsevier Ltd. All rights reserved.

[Successful continuous renal replacement therapy in a neonate with early-onset group B streptococcal sepsis and multi-organ dysfunction syndrome].

PubMed

von Schnakenburg, C; Hufnagel, M; Superti-Furga, A; Rieger-Fackeldey, E; Berner, R

2009-01-01

Group B streptococcal early-onset sepsis (GBS EOS) in neonates has a mortality rate of approximately 5%, particularly in the presence of multi-organ dysfunction. Fluid management is crucial in these patients, and continuous venovenous haemofiltration (CVVH) should be considered a therapeutic option even in newborn babies. After an uneventful pregnancy within hours after birth, a female term infant presented with dyspnoea, irritability and cyanosis. The systemic inflammatory response syndrome (SIRS) progressed to multi-organ dysfunction with acute respiratory distress syndrome (ARDS), impaired myocardial contractility, pulmonary hypertension and fluid overload. The maximum PRISM score was 51. The child required maximal respiratory and inotropic support with high volume intravenous fluid administration. However, only by using of CVVH from day 5 to 14, we successfully resolved progressive pulmonary and cardiovascular dysfunction. The child improved directly after initiation of fluid removal, was extubated on day 17 and discharged without obvious sequelae on day 57. All microbiology studies revealed GBS. Perinatal GBS-infections remain a major life-threatening event for newborn babies. CVVH should be considered an option for reversing fluid overload even in neonates with overwhelming SIRS. Alternatively, extracorporeal membrane oxygenation (ECMO) is discussed.

Comparison of telomere length and association with progenitor cell markers in lacrimal gland between Sjögren syndrome and non-Sjögren syndrome dry eye patients

PubMed Central

Kawashima, Motoko; Maida, Yoshiko; Kamoi, Mizuka; Ogawa, Yoko; Shimmura, Shigeto; Masutomi, Kenkichi; Tsubota, Kazuo

2011-01-01

Purpose Indicators of aging such as disruption of telomeric function due to shortening may be more frequent in dysfunctional lacrimal gland. The aims of this study were to 1) determine the viability of quantitative fluorescence in situ hybridization of telomeres (telo-FISH) for the assessment of telomere length in lacrimal gland in Sjögren and non- Sjögren syndrome patients; and 2) investigate the relationship between progenitor cell markers and telomere length in both groups. Methods Quantitative fluorescence in situ hybridization with a peptide nucleic acid probe complementary to the telomere repeat sequence was performed on frozen sections from human lacrimal gland tissues. The mean fluorescence intensity of telomere spots was automatically quantified by image analysis as relative telomere length in lacrimal gland epithelial cells. Immunostaining for p63, nucleostemin, ATP-binding cassette, sub-family G, member 2 (ABCG2), and nestin was also performed. Results Telomere intensity in the Sjögren syndrome group (6,785.0±455) was significantly lower than that in the non-Sjögren syndrome group (7,494.7±477; p=0.02). Among the samples from the non-Sjögren syndrome group, immunostaining revealed that p63 was expressed in 1–3 acinar cells in each acinar unit and continuously in the basal layer of duct cells. In contrast, in the Sjögren syndrome group, p63 and nucleostemin showed a lower level of expression. ABCG2 was expressed in acinar cells in both sjogren and non-Sjogren syndrome. Conclusions The results of this study indicate that 1) telo-FISH is a viable method of assessing telomere length in lacrimal gland, and 2) telomere length in Sjögren syndrome is shorter and associated with lower levels of expression of p63 and nucleostemin than in non-Sjögren syndrome. PMID:21655359

The refeeding syndrome and glucose load.

PubMed

O'Connor, Graeme; Goldin, Jonathon

2011-03-01

A 10-year-old girl with anorexia nervosa developed the refeeding syndrome following cautious reintroduction of nutrition, emphasizing that even with cautious refeeding a shift in fluid, glucose, and electrolytes can still occur, increasing the risk of morbidity and mortality in this ever growing vulnerable group. Biochemical, nutritional, and anthropometrical monitoring in the patient, who followed a conservative refeeding program after a prolonged period of nutritional inadequacy. The refeeding syndrome presented itself with hypophosphatemia, hypotension, and cardiac abnormalities whilst refeeding at 25 kcal/kg (600 kcal/day). Comprises of a literature review, highlighting this case as the youngest reported case of refeeding syndrome in anorexia nervosa. Discussion focuses on the possible deleterious affects that carbohydrates may have in exacerbating the refeeding syndrome. Copyright © 2009 Wiley Periodicals, Inc.

Targeted next generation sequencing for molecular diagnosis of Usher syndrome.

PubMed

Aparisi, María J; Aller, Elena; Fuster-García, Carla; García-García, Gema; Rodrigo, Regina; Vázquez-Manrique, Rafael P; Blanco-Kelly, Fiona; Ayuso, Carmen; Roux, Anne-Françoise; Jaijo, Teresa; Millán, José M

2014-11-18

Usher syndrome is an autosomal recessive disease that associates sensorineural hearing loss, retinitis pigmentosa and, in some cases, vestibular dysfunction. It is clinically and genetically heterogeneous. To date, 10 genes have been associated with the disease, making its molecular diagnosis based on Sanger sequencing, expensive and time-consuming. Consequently, the aim of the present study was to develop a molecular diagnostics method for Usher syndrome, based on targeted next generation sequencing. A custom HaloPlex panel for Illumina platforms was designed to capture all exons of the 10 known causative Usher syndrome genes (MYO7A, USH1C, CDH23, PCDH15, USH1G, CIB2, USH2A, GPR98, DFNB31 and CLRN1), the two Usher syndrome-related genes (HARS and PDZD7) and the two candidate genes VEZT and MYO15A. A cohort of 44 patients suffering from Usher syndrome was selected for this study. This cohort was divided into two groups: a test group of 11 patients with known mutations and another group of 33 patients with unknown mutations. Forty USH patients were successfully sequenced, 8 USH patients from the test group and 32 patients from the group composed of USH patients without genetic diagnosis. We were able to detect biallelic mutations in one USH gene in 22 out of 32 USH patients (68.75%) and to identify 79.7% of the expected mutated alleles. Fifty-three different mutations were detected. These mutations included 21 missense, 8 nonsense, 9 frameshifts, 9 intronic mutations and 6 large rearrangements. Targeted next generation sequencing allowed us to detect both point mutations and large rearrangements in a single experiment, minimizing the economic cost of the study, increasing the detection ratio of the genetic cause of the disease and improving the genetic diagnosis of Usher syndrome patients.

Influencing physiotherapy student attitudes toward exercise for adolescents with Down syndrome.

PubMed

Shields, Nora; Bruder, Andrea; Taylor, Nicholas; Angelo, Tom

2011-01-01

Negative attitudes of physiotherapists may prevent them from implementing exercise as an intervention among people with disabilities. The aim of this study was to examine whether physiotherapy student attitudes towards the barriers to exercise for adolescents with Down syndrome changed as a result of participating in a 10-week exercise programme. Data were collected as part of a randomised controlled trial. Twenty physiotherapy students (2 men, 18 women; mean age 19.5±1.3 years) volunteered to act as mentors. Each mentor was matched with an adolescent with Down syndrome from the same metropolitan suburb, who had been randomly allocated to either the intervention or the control group. The 10 adolescents and students in the intervention group all completed a 10-week, twice a week progressive resistance exercise training programme. The 10 adolescents and students in the control group continued with their usual activities. The students completed the 18-item Exercise Barriers Scale at baseline and after 10 weeks. There was a positive change in attitudes, significant at the p <0.05 level, favouring the intervention group on 9 of the 18 items on the Exercise Barriers Scale. After engagement in a 10-week exercise programme with an adolescent with Down syndrome, physiotherapy students identified fewer barriers that would prevent adolescents with Down syndrome from exercising. Results indicate that contact with adolescents with Down syndrome during clinical placement can positively influence attitudes towards exercise for people with Down syndrome among physiotherapy students.

[Features of autonomic dysfunction in myofascial pain syndromes cervicobrachial localization].

PubMed

Морозова, О Г; Ярошевский, А А; Липинская, Я В

2015-01-01

The relevance of this study is due to the prevalence of autonomic disorders and musculoskeletal pain, especially among the young people of working age. In recent years, many authors in scientific works have been highlighted aspects of mutual development myofascial and autonomic dysfunction, which is caused by neurophysiological preconditions and anatomical and topographical relationships that need to be considered in the diagnostic and therapeutic approaches. To study the characteristics of the formation and flow of autonomic dysfunction syndrome with paroxysmal and permanent types of flow in patients with myofascial pain syndromes cervicobrachial localization. Using clinical neurological, vertebral neurological, neuropsychological methods of studying the severity of pain (visual analogue scale and Pain questionnaire of Mac Gill) examined 84 patients suffering from autonomic dysfunction on the background of myofascial pain syndromes cervicobrachial localization. To identify the features of vegetative regulation of patients were divided into two groups: group 1 (51 people) - with a permanent type of course; group 2 (33 patients) - a type of paroxysmal of course of autonomic dysfunction. It was found more pronounced disturbances in patients with paroxysmal type of course of autonomic dysfunction. The frequency and severity of autonomic paroxysms associated with the severity of musculo-tonic syndrome and location of active trigger points in the muscles of the neck and shoulder girdle, due to anatomic and topographic features of these muscles, namely the proximity of their location to the sympathetic formations neck. The formation and development of emotional and affective disorders in both groups played a significant role of pain and musculo-tonic syndrome. The syndrome of autonomic dysfunction, in particular its paroxysmal type of flow, on the one hand is a response to the development of myofascial pain syndromes cervicobrachial localization, with another - a factor

The effects of polycystic ovary syndrome on gestational diabetes mellitus.

PubMed

Aktun, Hale Lebriz; Yorgunlar, Betul; Acet, Mustafa; Aygun, Banu Kumbak; Karaca, Nilay

2016-01-01

The aim of this study was to explore the inter-relationship between polycystic ovary syndrome and gestational diabetes mellitus, and demonstrate maternal and fetal outcomes. This was a case-control study in 1360 pregnant women who received a diagnosis of gestational diabetes mellitus between 24 and 28 weeks of gestational age. Among all diagnosed with gestational diabetes mellitus, 150 pregnant women had received a polycystic ovary syndrome, and 160 women who did not have polycystic ovary syndrome were designated as controls. The incidence of pregnancy-induced hypertension was 26.3% and 12% in the case and control groups, respectively. Preeclampsia was seen at an incidence of 12% and 6% in case and in control groups, respectively. The difference in neonatal hypoglycemia between the two groups was statistically significant, with an incidence of 17% and 5% in the case and in control groups, respectively. This study demonstrated that the presence of polycystic ovary syndrome along with gestational diabetes mellitus increases the risk of pregnancy induced hypertension by 2.4 fold, preeclampsia by 2 fold and neonatal hypoglycemia by 3.2 fold, compared to gestational diabetes mellitus alone.

Further delineation of Malan syndrome.

PubMed

Priolo, Manuela; Schanze, Denny; Tatton-Brown, Katrin; Mulder, Paul A; Tenorio, Jair; Kooblall, Kreepa; Acero, Inés Hernández; Alkuraya, Fowzan S; Arias, Pedro; Bernardini, Laura; Bijlsma, Emilia K; Cole, Trevor; Coubes, Christine; Dapia, Irene; Davies, Sally; Di Donato, Nataliya; Elcioglu, Nursel H; Fahrner, Jill A; Foster, Alison; González, Noelia García; Huber, Ilka; Iascone, Maria; Kaiser, Ann-Sophie; Kamath, Arveen; Liebelt, Jan; Lynch, Sally Ann; Maas, Saskia M; Mammì, Corrado; Mathijssen, Inge B; McKee, Shane; Menke, Leonie A; Mirzaa, Ghayda M; Montgomery, Tara; Neubauer, Dorothee; Neumann, Thomas E; Pintomalli, Letizia; Pisanti, Maria Antonietta; Plomp, Astrid S; Price, Sue; Salter, Claire; Santos-Simarro, Fernando; Sarda, Pierre; Segovia, Mabel; Shaw-Smith, Charles; Smithson, Sarah; Suri, Mohnish; Valdez, Rita Maria; Van Haeringen, Arie; Van Hagen, Johanna M; Zollino, Marcela; Lapunzina, Pablo; Thakker, Rajesh V; Zenker, Martin; Hennekam, Raoul C

2018-06-13

Malan syndrome is an overgrowth disorder described in a limited number of individuals. We aim to delineate the entity by studying a large group of affected individuals. We gathered data on 45 affected individuals with a molecularly confirmed diagnosis through an international collaboration and compared data to the 35 previously reported individuals. Results indicate that height is > 2 SDS in infancy and childhood but in only half of affected adults. Cardinal facial characteristics include long, triangular face, macrocephaly, prominent forehead, everted lower lip, and prominent chin. Intellectual disability is universally present, behaviorally anxiety is characteristic. Malan syndrome is caused by deletions or point mutations of NFIX clustered mostly in exon 2. There is no genotype-phenotype correlation except for an increased risk for epilepsy with 19p13.2 microdeletions. Variants arose de novo, except in one family in which mother was mosaic. Variants causing Malan and Marshall-Smith syndrome can be discerned by differences in the site of stop codon formation. We conclude that Malan syndrome has a well recognizable phenotype that usually can be discerned easily from Marshall-Smith syndrome but rarely there is some overlap. Differentiation from Sotos and Weaver syndrome can be made by clinical evaluation only. © 2018 The Authors. Human Mutation published by Wiley Periodicals, Inc.

Influence of CHDs on psycho-social and neurodevelopmental outcomes in children with Down syndrome.

PubMed

Visootsak, Jeannie; Huddleston, Lillie; Buterbaugh, Allison; Perkins, Adrienne; Sherman, Stephanie; Hunter, Jessica

2016-02-01

To evaluate the family psycho-social outcomes of children with Down syndrome and atrioventricular septal defect, and examine the impact of these variables on the child's neurodevelopmental outcome. This was a cross-sectional study that consisted of 57 children with Down syndrome - 20 cases and 37 controls - of ~12-14 months of age. In both groups, we assessed the development of the child, the quality of the child's home environment, and parenting stress. Compared with the Down syndrome without CHD group, the atrioventricular septal defect group revealed lower scores in all developmental domains, less optimal home environments, and higher parental stress. Significant differences in development were seen in the areas of cognition (p=0.04), expressive language (p=0.05), and gross motor (p<0.01). The Home Observation for Measurement of the Environment revealed significant differences in emotional and verbal responsiveness of the mother between the two groups. The Parenting Stress Index revealed that the Down syndrome with atrioventricular septal defect group had a significantly higher child demandingness subdomain scores compared with the Down syndrome without CHD group. The diagnosis of a CHD in addition to the diagnosis of Down syndrome may provide additional stress to the child and parents, elevating parental concern and disrupting family dynamics, resulting in further neurodevelopmental deficits. Finding that parental stress and home environment may play a role in the neurodevelopmental outcomes may prompt new family-directed interventions and anticipatory guidance for the families of children with Down syndrome who have a CHD.

Genetic analysis in Bartter syndrome from India.

PubMed

Sharma, Pradeep Kumar; Saikia, Bhaskar; Sharma, Rachna; Ankur, Kumar; Khilnani, Praveen; Aggarwal, Vinay Kumar; Cheong, Hae

2014-10-01

Bartter syndrome is a group of inherited, salt-losing tubulopathies presenting as hypokalemic metabolic alkalosis with normotensive hyperreninemia and hyperaldosteronism. Around 150 cases have been reported in literature till now. Mutations leading to salt losing tubulopathies are not routinely tested in Indian population. The authors have done the genetic analysis for the first time in the Bartter syndrome on two cases from India. First case was antenatal Bartter syndrome presenting with massive polyuria and hyperkalemia. Mutational analysis revealed compound heterozygous mutations in KCNJ1(ROMK) gene [p(Leu220Phe), p(Thr191Pro)]. Second case had a phenotypic presentation of classical Bartter syndrome however, genetic analysis revealed only heterozygous novel mutation in SLC12A gene p(Ala232Thr). Bartter syndrome is a clinical diagnosis and genetic analysis is recommended for prognostication and genetic counseling.

BURNOUT SYNDROME AMONG EDUCATORS IN PRE-SCHOOL INSTITUTIONS.

PubMed

Hozo, Endica Radic; Sucic, Goran; Zaja, Ivan

2015-12-01

The occurrence of burnout syndrome (BS) has been recognized in many professions (pilots, firefighters, police officers, doctors…) that during their work are subjected to high levels of stress. For educators in preschool institutions stress level is very high thus creating the possibility of developing BS. For this research is selected preschool institution - kindergarten "Radost" (Joy) in Split, in which by use of questionnaires (modified scale by Freudenberger and modified scales by Girdin, Everly and Dusek) during 2014 among educators (100 respondents) is conducted a survey regarding the frequency of burnout syndrome. According to questionnaires by Girdin, Everly and Dusek there is no statistically significant difference between the number of educators who feel good and those that are under significant stress (χ2=1.04; p=0.307). According to questionnaire by Freudenberg educators are classified into 3 categories and distribution of educators by the groups is almost uniform (χ2=2.76; p=0.250), which means that one third of a teacher is in good condition, a third is in the risk area for burn-out syndrome, while one third are candidates for development of this syndrome. Comparing a teacher in good condition compared to other (at risk and those who are candidates for the burn-out syndrome) is up to 1.5 times higher in those who are at risk and the candidates for development of this syndrome than in others (χ2=4.5; p=0.033). The occurrence of burnout syndrome is very high for the group of educators (half of the educators!) in pre-school institutions which should be taken into account by the institutions management. For this purpose, it is necessary to organize regular medical check-ups with particular reference to burnout syndrome with signs of the syndrome to prevent its further development.

BURNOUT SYNDROME AMONG EDUCATORS IN PRE-SCHOOL INSTITUTIONS

PubMed Central

Hozo, Endica Radic; Sucic, Goran; Zaja, Ivan

2015-01-01

Introduction: The occurrence of burnout syndrome (BS) has been recognized in many professions (pilots, firefighters, police officers, doctors…) that during their work are subjected to high levels of stress. For educators in preschool institutions stress level is very high thus creating the possibility of developing BS. Material and methods: For this research is selected preschool institution – kindergarten „Radost” (Joy) in Split, in which by use of questionnaires (modified scale by Freudenberger and modified scales by Girdin, Everly and Dusek) during 2014 among educators (100 respondents) is conducted a survey regarding the frequency of burnout syndrome. Research results: According to questionnaires by Girdin, Everly and Dusek there is no statistically significant difference between the number of educators who feel good and those that are under significant stress (χ2=1.04; p=0.307). According to questionnaire by Freudenberg educators are classified into 3 categories and distribution of educators by the groups is almost uniform (χ2=2.76; p=0.250), which means that one third of a teacher is in good condition, a third is in the risk area for burn-out syndrome, while one third are candidates for development of this syndrome. Comparing a teacher in good condition compared to other (at risk and those who are candidates for the burn-out syndrome) is up to 1.5 times higher in those who are at risk and the candidates for development of this syndrome than in others (χ2=4.5; p=0.033). Conclusion: The occurrence of burnout syndrome is very high for the group of educators (half of the educators!) in pre-school institutions which should be taken into account by the institutions management. For this purpose, it is necessary to organize regular medical check-ups with particular reference to burnout syndrome with signs of the syndrome to prevent its further development. PMID:26889099

Diagnostic standards for dopaminergic augmentation of restless legs syndrome: report from a World Association of Sleep Medicine-International Restless Legs Syndrome Study Group consensus conference at the Max Planck Institute.

PubMed

García-Borreguero, Diego; Allen, Richard P; Kohnen, Ralf; Högl, Birgit; Trenkwalder, Claudia; Oertel, Wolfgang; Hening, Wayne A; Paulus, Walter; Rye, David; Walters, Arthur; Winkelmann, Juliane; Earley, Christopher J

2007-08-01

Augmentation of symptom severity is the main complication of dopaminergic treatment of restless legs syndrome (RLS). The current article reports on the considerations of augmentation that were made during a European Restless Legs Syndrome Study Group (EURLSSG)-sponsored Consensus Conference in April 2006 at the Max Planck Institute (MPI) in Munich, Germany, the conclusions of which were endorsed by the International RLS Study Group (IRLSSG) and the World Association of Sleep Medicine (WASM). The Consensus Conference sought to develop a better understanding of augmentation and generate a better operational definition for its clinical identification. Current concepts of the pathophysiology, clinical features, and therapy of RLS augmentation were evaluated by subgroups who presented a summary of their findings for general consideration and discussion. Recent data indicating sensitivity and specificity of augmentation features for identification of augmentation were also evaluated. The diagnostic criteria of augmentation developed at the National Institutes of Health (NIH) conference in 2002 were reviewed in light of current data and theoretical understanding of augmentation. The diagnostic value and criteria for each of the accepted features of augmentation were considered by the group. A consensus was then developed for a revised statement of the diagnostic criteria for augmentation. Five major diagnostic features of augmentation were identified: usual time of RLS symptom onset each day, number of body parts with RLS symptoms, latency to symptoms at rest, severity of the symptoms when they occur, and effects of dopaminergic medication on symptoms. The quantitative data available relating the time of RLS onset and the presence of other features indicated optimal augmentation criteria of either a 4-h advance in usual starting time for RLS symptoms or a combination of the occurrence of other features. A paradoxical response to changes in medication dose also indicates

Neuropsychological Correlates of Word Identification in Down Syndrome

ERIC Educational Resources Information Center

Fidler, Deborah J.; Most, David E.; Guiberson, Mark M.

2005-01-01

In order to better understand the neuropsychological underpinnings of the relative strength in word identification in individuals with Down syndrome, the performance of children and adolescents with Down syndrome (N=29) was compared to the performance of a nonverbal-IQ matched group of children and adolescents with developmental disabilities of…

Is Pseudoexfoliation Syndrome a Risk Factor for Cerebro Vascular Disease?

PubMed

Kan, Emrah; Yılmaz, Ahmet; Demirağ, Mehmet Derya; Çalık, Murat

2017-01-01

To determine the relationship between cerebro vascular disease and pseudoexfoliation syndrome. This cross-sectional case control study consisted of 50 patients with ischemic-type cerebro vascular disease and 50 control subjects. All subjects were investigated for diabetes mellitus and hypertension status and underwent a detailed ophthalmic examination. A diagnosis of pseudoexfoliation syndrome was made if characteristic greyish particulate matter was found on the anterior lens capsule after pupillary dilatation by slit-lamp examination. All subjects were compared in terms of pseudoexfoliation syndrome, diabetes mellitus, and hypertension. Pearson Chi Square and Student's t test were used for statistical analysis. Logistic regression analyses of the risk factors between groups were also made. The presence of pseudoexfoliation syndrome was significantly higher in patients with cerebro vascular disease when compared to the control subjects (p = 0.02). The frequency of diabetes mellitus was similar between the two groups. Arterial hypertension was significantly more frequent in the patient group when compared to the control subjects (p < 0.01). The logistic regression analysis showed that both pseudoexfoliation syndrome and hypertension were significantly associated with cerebro vascular disease. In the present study, we found that pseudoexfoliation syndrome frequency was found to be higher in patients with cerebro vascular disease than in control subjects. A slit-lamp examination of the eye could be an important marker that indicates the risk of cerebro vascular disease. We recommend an evaluation of all subjects with pseudoexfoliation syndrome for the presence of cerebro vascular disease. Longitudinal studies with larger populations are needed to confirm this relationship.

Effectiveness of Kinesiotaping and Subacromial Corticosteroid Injection in Shoulder Impingement Syndrome.

PubMed

Şahin Onat, Şule; Biçer, Seda; Şahin, Zehra; Küçükali Türkyilmaz, Ayşegül; Kara, Murat; Özbudak Demir, Sibel

2016-08-01

The aim of this study was to investigate whether kinesiotaping or subacromial corticosteroid injection provides additional benefit when used with nonsteroidal anti-inflammatory drugs (NSAIDs) in patients with shoulder impingement syndrome. Patients with shoulder impingement syndrome were divided into 3 groups as follows: NSAID group (n = 33), kinesiotaping group (kinesiotaping + NSAID) (n = 33), and injection group (subacromial corticosteroid injection + NSAID) (n = 33). Outcome measures including visual analog scale, shoulder ranges of motion, Shoulder Disability Questionnaire, and University of California-Los Angeles (UCLA) scale were evaluated before and after the treatment (fourth week). A total of 99 patients (21 male and 78 female patients) were enrolled in this study. Demographic and baseline clinical characteristics of the groups (except for body mass index and visual analog scale at night, both P = 0.05) were similar between the groups (all P > 0.05). Clinical parameters were found to have improved in the 3 groups (all P < 0.001). While the kinesiotaping and injection groups showed similar improvements (all P > 0.05), each group had better outcome than did the NSAID group as regards pain (activity visual analog scale), ranges of motion, and Shoulder Disability Questionnaire and UCLA scale scores (all P < 0.05). Addition of kinesiotaping or subacromial corticosteroid injection to NSAID treatment seems to have better/similar effectiveness in patients with shoulder impingement syndrome. Therefore, kinesiotaping might serve as an alternative treatment in case (injection of) corticosteroids are contraindicated. Complete the self-assessment activity and evaluation online at http://www.physiatry.org/JournalCME CME OBJECTIVES:: Upon completion of this article, the reader should be able to: (1) Delineate appropriate treatment options for shoulder impingement syndrome; (2) Identify treatment benefits of kinesiotaping and corticosteroid injections in shoulder

Development of a group-based self-management programme for individuals with chronic fatigue syndrome: a pilot study.

PubMed

Pinxsterhuis, Irma; Hellum, Live Lange; Aannestad, Hilde Hassum; Sveen, Unni

2015-03-01

The aim of the study was to develop a group-based self-management programme for individuals with chronic fatigue syndrome (CFS) by using the participants' experiences with the initial version of the programme, which intends to promote coping with the illness in a primary healthcare setting. An initial programme was developed, based on self-efficacy theory and the concepts of client-centred practice and empowerment. Subsequently, the programme was tested and further developed by drawing on the participants' experiences with the programme. Focus-group interviews were applied. The interviews were analysed using thematic analysis. The initial programme was found to be feasible, although several modifications regarding the content and practical organization of the programme were proposed. In line with the participants' experiences, the final self-management programme was developed, which includes short presentations of eight topics, exchange of experiences among participants, goal-setting, construction of action plans, and relaxation exercises, in addition to a meeting for relatives. The programme will be provided in eight biweekly sessions and be led by juxtaposed peer counsellors and occupational therapists. The effects of the final programme will be evaluated in a randomized controlled trial.

Xeroderma pigmentosum-Cockayne syndrome complex.

PubMed

Natale, Valerie; Raquer, Hayley

2017-04-04

Xeroderma pigmentosum-Cockayne syndrome complex is a very rare multisystem degenerative disorder (Orpha: 220295; OMIM: 278730, 278760, 278780, 610651). Published information on XP-CS is mostly scattered throughout the literature. We compiled statistics related to symptom prevalence in XP-CS and have written a clinical description of the syndrome. We also drew on clinical practices used in XP and in Cockayne syndrome without XP to aid management of XP-CS.Extensive searches of the literature identified 43 XP-CS patients. The diagnosis had been confirmed with molecular or biochemical methods in 42 of them. Clinical features of each patient were summarized in spreadsheets and summary statistics were generated from this data. XP patients are classified into complementation groups according to the gene that is mutated. There are four groups in XP-CS, and classification was available for 42 patients. Twenty-one were in the XP-G complementation group, 13 in XP-D, 5 in XP-B, and 3 in XP-F. Overall, the clinical features of XP-CS are very similar to those of CS without XP, with the exception of skin cancers in XP-CS. However, one intriguing finding was that cancer incidence was lower in XP-CS compared to XP alone or XP-neurological disorder. The cancer rate in XP-CS was higher than in CS without XP, an unsurprising finding. There is preliminary evidence for the existence of severity groups in XP-CS, as is the case in CS.Although health problems in XP-CS vary both in severity and in when they the first occur, there was overall homogeneity between all complementation groups and putative severity groups. Severely affected patients met fewer milestones and died at younger ages compared to more mildly affected patients.

Nephrocalcinosis as adult presentation of Bartter syndrome type II.

PubMed

Huang, L; Luiken, G P M; van Riemsdijk, I C; Petrij, F; Zandbergen, A A M; Dees, A

2014-02-01

Bartter syndrome consists a group of rare autosomal-recessive renal tubulopathies characterised by renal salt wasting, hypokalaemic metabolic alkalosis, hypercalciuria and hyperreninaemic hyperaldosteronism. It is classified into five types. Mutations in the KCNJ1 gene (classified as type II) usually cause the neonatal form of Bartter syndrome. We describe an adult patient with a homozygous KCNJ1 mutation resulting in a remarkably mild phenotype of neonatal type Bartter syndrome.

Oral health in a group of patients with Rett syndrome in the regions of Valencia and Murcia (Spain): A case-control study

PubMed Central

Fuertes-González, María C.

2014-01-01

Objectives: Rett syndrome (RS) is a rare disease with oral manifestations that have not been described in detail or in a standardized manner in the literature. The present study describes the oral health of the population with RS in two Spanish regions, following the protocol of the World Health Organization for conducting common oral health surveys. Study Design: A prospective, observational case-control study was carried out, involving a group of patients with RS (n1=41) and a mean age of 13.37±3.19 years, and an age- and gender-matched control group without RS (n0=82). The data referred to oral health and habits were recorded by means of a questionnaire and oral examination was used to document caries indicators (prevalence of caries, df(t), df(s), DMF(T), DMF(S) and indices referred to dental loss, morbidity, restoration), the Community Periodontal Index (CPI), and the most characteristic oral manifestations. Results: The most frequent oral habit in the patients with RS was diurnal bruxism, followed by stereotyped tongue movements and oral breathing. The caries scores were lower in the RS population than in the control group, but patients with RS showed greater periodontal alterations and a greater prevalence of drooling, dental wear, high-arched palate and anterior open bite. Conclusions: The population with RS exhibits characteristic and early oral habits and alterations, and periodontal problems that are more notorious than caries disease, so that our efforts should focus on the diagnosis and early correction of the parafunctional habits, promoting restorative treatment, and providing instructions on correct oral hygiene. Key words:Rett syndrome, oral habits, bruxism, caries. PMID:25350594

Subclinical hypothyroidism is associated with metabolic syndrome and clomiphene citrate resistance in women with polycystic ovary syndrome.

PubMed

Lu, Yue-Hong; Xia, Zhou-Lan; Ma, Ying-Ying; Chen, Hui-Juan; Yan, Li-Ping; Xu, Hui-Fang

2016-10-01

To evaluate the possible relationship between subclinical hypothyroidism (SCH) and metabolic syndrome (MS) and the response to clomiphene citrate (CC) stimulation in women with polycystic ovary syndrome (PCOS). One hundred and ninety-six women with PCOS were divided into two groups: (1) the SCH group with 92 patients; (2) the euthyroid (EU) group with 104 patients. Physical characteristics and metabolic parameters as well as the reaction to CC stimulating test were compared between these two groups. (1) In the SCH group, significantly higher body mass index, Ferriman-Gallwey score, serum triglyceride, insulin and glucose of oral glucose tolerance test, homeostatic model assessment-insulin resistance (HOMA-IR) and significantly lower serum high-density lipoprotein cholesterol was observed in comparison with those in the EU group (p < 0.05). (2) The prevalence of CC resistance (30.4%), IR (43.5%) and MS (34.8%) in the SCH group was significantly higher than that in the EU group (p < 0.05). SCH was found associated with IR, MS and CC resistance in women with PCOS. PCOS patients with SCH may have a poorer treatment response to ovulation induction with CC.

Social Anxiety in Cornelia de Lange Syndrome

ERIC Educational Resources Information Center

Richards, Caroline; Moss, Jo; O'Farrell, Laura; Kaur, Gurmeash; Oliver, Chris

2009-01-01

In this study we assessed the behavioral presentation of social anxiety in Cornelia de Lange syndrome (CdLS) using a contrast group of Cri du Chat syndrome (CdCS). Behaviors indicative of social anxiety were recorded in twelve children with CdLS (mean age = 11.00; SD = 5.15) and twelve children with CdCS (8.20; SD = 2.86) during social…

Renal disease in the acquired immunodeficiency syndrome in north central Nigeria.

PubMed

Agaba, E I; Agaba, P A; Sirisena, N D; Anteyi, E A; Idoko, J A

2003-01-01

The brunt of the human immunodeficiency virus infection/the acquired immunodeficiency syndrome is largely borne by communities in sub-Saharan Africa. We describe renal disease in Nigerians with the acquired immunodeficiency syndrome. Consecutive patients with the acquired immunodeficiency syndrome (AIDS) seen in the infections unit of the Jos University Teaching Hospital and a similar group of healthy controls were evaluated for renal disease. Subjects with past history of renal disease, hypovolemia, hypertension, diabetes mellitus and/or a documented fever were excluded from the study. Of the 79 patients with the acquired immunodeficiency syndrome and 57 controls studied, renal disease was present in 41 (51.8%) of the patients in the AIDS group and 7 (12.2%) of controls. While 15 (19%) of the AIDS group had azotemia alone and 20 (25.3%) had proteinuria alone, 6 (7.6%) had azotemia and proteinuria. The mean protein excretion/24 hours was significantly higher in the AIDS group compared to controls, (2.99 +/- 54 g and 0.56 +/- 0.12 g respectively, p = 0.001), while the GFR was significantly higher in controls compared to the study group (103.30 +/- 37.78 and 68.03 +/- 37.55 respectively, p = 0.004). Subjects in the AIDS group with renal disease had a significantly longer duration of illness compared to those without (12.33 +/- 8.67 months and 7.28 +/- 7.78 months respectively, p = 0.008). Age and serum CD4+ cell counts were similar in patients with and without renal disease in the AIDS group. Renal disease is a common complication of acquired immunodeficiency syndrome, the duration of illness being strongly associated with its presence.

Six controversial issues on subclinical Cushing's syndrome.

PubMed

Chiodini, Iacopo; Albani, Adriana; Ambrogio, Alberto Giacinto; Campo, Michela; De Martino, Maria Cristina; Marcelli, Giorgia; Morelli, Valentina; Zampetti, Benedetta; Colao, Annamaria; Pivonello, Rosario

2017-05-01

Subclinical Cushing's syndrome is a condition of hypercortisolism in the absence of signs specific of overt cortisol excess, and it is associated with an increased risk of diabetes, hypertension, fragility fractures, cardiovascular events and mortality. The subclinical Cushing's syndrome is not rare, being estimated to be between 0.2-2 % in the adult population. Despite the huge number of studies that have been published in the recent years, several issues remain controversial for the subclinical Cushing's syndrome screening, diagnosis and treatment. The Altogether to Beat Cushing's syndrome Group was founded in 2012 for bringing together the leading Italian experts in the hypercortisolism-related diseases. This document represents the Altogether to Beat Cushing's syndrome viewpoint regarding the following controversial issues on Subclinical Cushing's syndrome (SCS): (1) Who has to be screened for subclinical Cushing's syndrome? (2) How to screen the populations at risk? (3) How to diagnose subclinical Cushing's syndrome in patients with an adrenal incidentaloma? (4) Which consequence of subclinical Cushing's syndrome has to be searched for? (5) How to address the therapy of choice in AI patients with subclinical Cushing's syndrome? (6) How to follow-up adrenal incidentaloma patients with subclinical Cushing's syndrome surgically or conservatively treated? Notwithstanding the fact that most studies that faced these points may have several biases (e.g., retrospective design, small sample size, different criteria for the subclinical Cushing's syndrome diagnosis), we believe that the literature evidence is sufficient to affirm that the subclinical Cushing's syndrome condition is not harmless and that the currently available diagnostic tools are reliable for identifying the majority of individuals with subclinical Cushing's syndrome.

Association between habitual daytime napping and metabolic syndrome: a population-based study.

PubMed

Lin, Diaozhu; Sun, Kan; Li, Feng; Qi, Yiqin; Ren, Meng; Huang, Chulin; Tang, Juying; Xue, Shengneng; Li, Yan; Yan, Li

2014-12-01

Our objective was to evaluate the association between habitual daytime napping and the prevalence of metabolic syndrome. We conducted a population-based study of 8,547 subjects aged 40 years or older. Metabolic syndrome was defined according to a harmonized definition from a joint statement and the recommended thresholds for the Chinese population. Information about sleep duration was self-reported. The prevalence of metabolic syndrome in the no daytime napping group, the 0 to 1 hour daytime napping group and the more than 1 hour daytime napping group were 35.0%, 36.0% and 44.5% among the females (P<0.0001). Increased daytime napping hours were positively associated with parameters of metabolic syndrome in the female subjects, including waist circumference, systolic blood pressure, triglycerides and fasting plasma glucose (P<0.05 for all). Multivariate adjusted logistic regression analysis revealed that, compared to the no habitual daytime napping females, napping for more than 1 hour was independently associated with an increased prevalence of metabolic syndrome (odds ratio 1.39, 95% confidence interval, 1.13-1.72). Compared to the female subjects in the no daytime napping group, those habitually napped for more than 1 hour exhibited 46% and 26% increases in the prevalence of central obesity and hypertriglyceridemia (all P<0.05). No statistically significant associations were detected between daytime napping hours and metabolic syndrome among the male subjects. Daytime napping is associated with an increased prevalence of metabolic syndrome in middle-aged non-obese Chinese women. Copyright © 2014. Published by Elsevier Inc.

[PHACES syndrome].

PubMed

Morcillo Azcárate, J; Bernabeu-Wittel, J; Fernández-Pineda, I; Conejo-Mir, M D; Tuduri Limousin, I; Aspiazu Salinas, D A; de Agustín Asensio, J C

2010-04-01

PHACES syndrome associates a segmental facial hemangioma with cerebral malformations, aortic branches/cranial arteries anomalies, cardiac defects, eye anomalies or ventral wall defects. The aim of this study is to analyze our experience with this syndrome. Retrospective study of the cases seen at our unit in the last year. We treat 4 cases; 3 girls and 1 child. Besides the segmental hemangioma they presented: 3 vascular cerebral malformations; 2 structural cardiopathies; 2 cerebral malformations, 1 microftalmia. We did not find ventral wall defects. A case received treatment with two cycles of metilprednisolone i.v. and oral prednisone, with favourable course; two cases received initial treatment with oral prednisone continued of oral propanolol in rising pattern up to 2 mg/kg/day, Obtaining both the detention of the tumour growth and regression of the lesion, with very good tolerance. A 7-year-old patient has been treated with colouring pulse laser for her residual lesions. When we see a segmental facial hemangioma we must perform a wide diagnostic study in order to discard a PHACES syndrome. Multidisciplinar approach to the patient by a wide expert's group gets an earlier diagnose and improves the outcome. Propranolol is a promising therapeutic alternative.

Mathematics Learning Disabilities in Girls with Fragile X or Turner Syndrome during Late Elementary School

ERIC Educational Resources Information Center

Murphy, Melissa M.; Mazzocco, Michele M. M.

2008-01-01

The present study focuses on math and related skills among 32 girls with fragile X (n = 14) or Turner (n = 18) syndrome during late elementary school. Performance in each syndrome group was assessed relative to Full Scale IQ-matched comparison groups of girls from the general population (n = 32 and n = 89 for fragile X syndrome and Turner…

Behavioral and Emotional Disturbance in Individuals with Williams Syndrome.

ERIC Educational Resources Information Center

Einfeld, Stewart L.; Tonge, Bruce J.; Florio, Tony

1997-01-01

Comparison of behavioral and emotional disturbance in 70 children and adolescents with Williams Syndrome (characterized by mental retardation and short stature) and a control group, found Williams Syndrome subjects were more likely to be diagnosed with a psychiatric disorder characterized by anxiety, hyperactivity, preoccupations, and…

[Symptoms of anxiety and depression in atopic eczema/dermatitis syndrome].

PubMed

Brzoza, Zenon; Badura-Brzoza, Karina; Nowakowski, Marek; Matysiakiewicz, Jerzy; Rogala, Barbara; Hese, Robert T

2005-01-01

The presence of chronic disease is a risk factor for the development of mood disturbances and panic disorders. They can influence the course of disease and effectiveness of therapy. Depression may be the cause of making light doctor's advice. Anxious patients often aggravate symptoms of the disease. To study symptoms of anxiety and depression in patients suffering from atopic eczema/dermatitis syndrome (ZAZS). Material. We studied 38 patients suffering from adequately controlled moderate ZAZS and 62 volunteers in the control group. Mental status of subjects was assessed by means of State and Trait Anxiety Inventory (STAI) and Beck Depression Inventory (BDI) questionnaires. ZAZS patients demonstrated higher intensity of anxiety (as a trait and as a state) than healthy subjects. Intensity and prevalence of depression in the atopic eczema/ dermatitis syndrome group was higher than in the control group. Patients suffering from atopic/eczema dermatitis syndrome are pre-disposed to anxiety and depression manifestation. Even adequately controlled symptoms of atopic/eczema dermatitis syndrome may be the cause of those disturbances' occurrence.

Role of Doppler Sonography in Early Detection of Splenic Steal Syndrome.

PubMed

Li, Chaolun; Quintini, Cristiano; Hashimoto, Koji; Fung, John; Obuchowski, Nancy A; Sands, Mark J; Wang, Weiping

2016-07-01

To retrospectively investigate the role of Doppler sonography in the early detection of splenic steal syndrome. Fifty cases of splenic steal syndrome after orthotopic liver transplantation were identified. A control group was matched to the splenic steal syndrome group. Information was collected about the clinical presentation, liver enzyme levels, Doppler sonographic results, and follow-up after patients underwent splenic artery embolization. A persistent hepatic arterial diastolic reversal waveform was observed in 25 patients with splenic steal syndrome versus 0 control patients. The mean hepatic arterial resistive index (RI) values ± SD were 0.95 ± 0.09 in patients with splenic steal syndrome and 0.80 ± 0.10 in control patients (P < .0001). One week after orthotopic liver transplantation, the area under the receiver operating characteristic curve for the RI was 0.884 (95% confidence interval, 0.793-0.975; P = .001) for splenic steal syndrome diagnosis. After splenic artery embolization, there was normalization of the reversal waveform, with an average RI of 0.77 ± 0.11 (P < .0001). Dynamic changes in the hepatic arterial waveform and RI are keys to detecting splenic steal syndrome with Doppler sonography.

[Münchausen syndrome by proxy].

PubMed

Scheuerman, Oded; Grinbaum, Iris; Garty, Ben Zion

2013-11-01

Münchausen syndrome by proxy (also known as factitious disorder by proxy) is a psychiatric disorder which consists of fabricating or inducing illness in a child, usually by his mother. The motivation for the perpetrator's behavior is receivng satisfaction from the investigations and treatments that the child receives and from the medical environment, as part of a unique mental disturbance. External incentives for the behavior (such as economic gain) are absent. During the last few years about 20 cases of Münchausen syndrome by proxy were diagnosed in our ward. We describe a few less typical cases of patients with Münchausen syndrome by proxy. In all cases the offender, the mother, had only secondary education and no medical background. The socioeconomic background was variable. Recognition of the syndrome and a high index of clinical suspicion are needed in order to diagnose the disorder. Suspicious signs and symptoms include prolonged and illogical course of disease, odd complications, exacerbation that appear just before discharge from the hospital and symptoms that occur only in the presence of a specific care giver. Münchausen syndrome by proxy is not very rare. It appears in all ethnic groups, socioeconomic status and educational backgrounds.

Grouping and trajectories of the neuropsychiatric symptoms in patients with Alzheimer's disease, part I: symptom clusters.

PubMed

Garre-Olmo, Josep; López-Pousa, Secundino; Vilalta-Franch, Joan; de Gracia Blanco, Manuel; Vilarrasa, Antoni Bulbena

2010-01-01

Behavioral and psychological symptoms of dementia (BPSD) are frequently observed in Alzheimer's disease (AD) and affect more than 80% of patients over the course of AD. The goal of this study was to establish a model for grouping the symptoms of BPSD into clinical syndromes. Over a 24-month period, an observational study was conducted using a population of ambulatory patients with AD of mild to moderate severity. The Neuropsychiatric Inventory (NPI) was administered to the patients' caregivers every 6 months. BPSD were grouped using exploratory factor analysis (EFA) and confirmatory factor analysis (CFA) of the NPI scores of each assessment. The sample population consisted of 491 patients (70.9% women) with an average age of 75.2 years (SD=6.6). The five EFA suggested that there was a stable three-factor structure. According to the results of the EFA, three models of symptom grouping were adjusted using CFA methodology. The CFA model that satisfactorily grouped the NPI scores into three factors included a psychotic syndrome (hallucinations, delusions), an affective syndrome (depression, anxiety, irritability, agitation) and a behavior syndrome (euphoria, disinhibition, apathy, aberrant motor behavior). Based on our findings, we propose a model for grouping the BDSD in which there are core nuclear syndromes (psychotic and affective) as well as an unspecified behavior syndrome comprising satellite symptoms that may be related to the presence of the nuclear syndromes.

Association of adiponectin gene -11377C>G polymorphism with adiponectin levels and the metabolic syndrome in Thais.

PubMed

Suriyaprom, Kanjana; Phonrat, Benjaluck; Tungtrongchitr, Rungsunn

2014-01-01

The metabolic syndrome is related to increased risk of developing cardiovascular disease and type 2 diabetes. Adiponectin is an adipocyte-secreted protein with insulin-sensitizing and anti-atherogenic properties. The aims of this study were to evaluate adiponectin levels and biochemical parameters in metabolic-syndrome subjects and healthy controls. The study also sought to identify links between two polymorphisms, -11377C>G (rs266729) and +45T>G (rs2241766) of the adiponectin gene, in relation to adiponectin levels and the metabolic syndrome. Three hundres and thirty-two Thai volunteers: 164 metabolic-syndrome subjects and 168 healthy control subjects were investigated. The adiponectin and HDL-C levels of the metabolic-syndrome group were significantly lower than the control group (p<0.001). Decreased concentration of adiponectin was associated with -11377C>G polymorphism (p<0.001); this polymorphism was significantly more frequent in the metabolic syndrome group than in the control group (p<0.001). However, +45T>G polymorphism of the adiponectin gene was found not to be related to adiponectin level or metabolic syndrome. Therefore, -11377C>G polymorphism was related to the metabolic syndrome susceptibility, and this polymorphism impacted on circulating adiponectin concentrations among Thais.

Genetics Home Reference: Sotos syndrome

MedlinePlus

... gene are the primary cause of Sotos syndrome , accounting for up to 90 percent of cases. Other ... molecule called a methyl group to histones (a process called methylation), histone methyltransferases regulate the activity of ...

Wideband energy reflectance findings in presence of normal tympanogram in children with Down's syndrome.

PubMed

Kaf, Wafaa A

2011-02-01

The prevalence of middle ear disorders in children with Down syndrome is higher than normal children due to the associated craniofacial abnormalities. The goal of this study is to evaluate middle ear function using wideband energy reflectance at ambient pressure in 14 young children with Down syndrome and matched control group (2½-5 years old; N=19 ears per group) who each have a normal 226Hz tympanogram. All children underwent otoscopic examination, hearing screening using play audiometry (500-4000Hz), and middle ear testing using 226Hz tympanometry and wideband energy reflectance. The chirp signals for the wideband energy reflectance were presented to the child's ear at 65dB SPL stimulus level and the recording was done over 220-8000Hz range. The measured energy reflectance represents the ratio of the sound energy reflected from the tympanic membrane to the incident sound energy transmitted to the middle ear at a specific frequency. Paired Samples t-test was computed for the mean, 95th, 75th, 25th, and 5th percentile data of each frequency of the two groups. Despite the presence of normal tympanometric findings in both groups, results revealed abnormal wideband energy reflectance findings in 63% of the children with Down syndrome compared to the normal wideband energy reflectance findings in the control group. The mean energy reflectance ratio of the Down syndrome group was abnormally lower than that of the control at 5700-8000Hz (p<0.0005). The 5th and 95th percentile ratios of the Down syndrome group fell outside the 5th and 95th percentile of the control group (p<0.0005). Abnormally low energy reflectance ratios above 4000Hz in the presence of normal tympanograms in the Down syndrome group may suggest associated congenital middle ear anomalies in children with DS. The present findings suggest that wideband energy reflectance has the potential to be of more practical value in children with DS than tympanometry. Further research with a larger number of Down

Differences in manifestations of Marfan syndrome, Ehlers-Danlos syndrome, and Loeys-Dietz syndrome.

PubMed

Meester, Josephina A N; Verstraeten, Aline; Schepers, Dorien; Alaerts, Maaike; Van Laer, Lut; Loeys, Bart L

2017-11-01

Many different heritable connective tissue disorders (HCTD) have been described over the past decades. These syndromes often affect the connective tissue of various organ systems, including heart, blood vessels, skin, joints, bone, eyes, and lungs. The discovery of these HCTD was followed by the identification of mutations in a wide range of genes encoding structural proteins, modifying enzymes, or components of the TGFβ-signaling pathway. Three typical examples of HCTD are Marfan syndrome (MFS), Ehlers-Danlos syndrome (EDS), and Loeys-Dietz syndrome (LDS). These syndromes show some degree of phenotypical overlap of cardiovascular, skeletal, and cutaneous features. MFS is typically characterized by cardiovascular, ocular, and skeletal manifestations and is caused by heterozygous mutations in FBN1 , coding for the extracellular matrix (ECM) protein fibrillin-1. The most common cardiovascular phenotype involves aortic aneurysm and dissection at the sinuses of Valsalva. LDS is caused by mutations in TGBR1/2 , SMAD2/3 , or TGFB2/3 , all coding for components of the TGFβ-signaling pathway. LDS can be distinguished from MFS by the unique presence of hypertelorism, bifid uvula or cleft palate, and widespread aortic and arterial aneurysm and tortuosity. Compared to MFS, LDS cardiovascular manifestations tend to be more severe. In contrast, no association is reported between LDS and the presence of ectopia lentis, a key distinguishing feature of MFS. Overlapping features between MFS and LDS include scoliosis, pes planus, anterior chest deformity, spontaneous pneumothorax, and dural ectasia. EDS refers to a group of clinically and genetically heterogeneous connective tissue disorders and all subtypes are characterized by variable abnormalities of skin, ligaments and joints, blood vessels, and internal organs. Typical presenting features include joint hypermobility, skin hyperextensibility, and tissue fragility. Up to one quarter of the EDS patients show aortic aneurysmal

Differences in manifestations of Marfan syndrome, Ehlers-Danlos syndrome, and Loeys-Dietz syndrome

PubMed Central

Meester, Josephina A. N.; Verstraeten, Aline; Schepers, Dorien; Alaerts, Maaike; Van Laer, Lut

2017-01-01

Many different heritable connective tissue disorders (HCTD) have been described over the past decades. These syndromes often affect the connective tissue of various organ systems, including heart, blood vessels, skin, joints, bone, eyes, and lungs. The discovery of these HCTD was followed by the identification of mutations in a wide range of genes encoding structural proteins, modifying enzymes, or components of the TGFβ-signaling pathway. Three typical examples of HCTD are Marfan syndrome (MFS), Ehlers-Danlos syndrome (EDS), and Loeys-Dietz syndrome (LDS). These syndromes show some degree of phenotypical overlap of cardiovascular, skeletal, and cutaneous features. MFS is typically characterized by cardiovascular, ocular, and skeletal manifestations and is caused by heterozygous mutations in FBN1, coding for the extracellular matrix (ECM) protein fibrillin-1. The most common cardiovascular phenotype involves aortic aneurysm and dissection at the sinuses of Valsalva. LDS is caused by mutations in TGBR1/2, SMAD2/3, or TGFB2/3, all coding for components of the TGFβ-signaling pathway. LDS can be distinguished from MFS by the unique presence of hypertelorism, bifid uvula or cleft palate, and widespread aortic and arterial aneurysm and tortuosity. Compared to MFS, LDS cardiovascular manifestations tend to be more severe. In contrast, no association is reported between LDS and the presence of ectopia lentis, a key distinguishing feature of MFS. Overlapping features between MFS and LDS include scoliosis, pes planus, anterior chest deformity, spontaneous pneumothorax, and dural ectasia. EDS refers to a group of clinically and genetically heterogeneous connective tissue disorders and all subtypes are characterized by variable abnormalities of skin, ligaments and joints, blood vessels, and internal organs. Typical presenting features include joint hypermobility, skin hyperextensibility, and tissue fragility. Up to one quarter of the EDS patients show aortic aneurysmal

Investigation of Demodex folliculorum frequency in patients with polycystic ovary syndrome.

PubMed

Eser, Ayla; Erpolat, Seval; Kaygusuz, Ikbal; Balci, Hatice; Kosus, Aydin

2017-01-01

Background: Demodex mites are acari that reside in the pilosebaceous unit of the skin and have been associated with skin disorders. The objective of this study was to investigate the prevalence of Demodex folliculorum (D. folliculorum) mites in polycystic ovary syndrome patients as well as to examine the relationship between Demodex infestation and the presence of acne and oily or dry skin types in polycystic ovary syndrome patients. 41 polycystic ovary syndrome patients and 47 non-polycystic ovary syndrome control subjects were enrolled in the study. polycystic ovary syndrome was diagnosed according to the revised 2003 ESHRE/ASRM polycystic ovary syndrome Consensus Workshop Group diagnostic criteria. Microscopic examination of D. folliculorum mites was carried out by standardized skin surface biopsy. The result was considered positive when there were more than 5 mites per cm2. D. folliculorum was positive in 53.7% of the polycystic ovary syndrome patients and 31.9% of the non-polycystic ovary syndrome group (p=0.052). Demodex positivity was significantly associated with acne (p=0.003) and oily skin (p=0.005) in the polycystic ovary syndrome patients but not in the controls. Our study is limited by the relatively small number of subjects and the observational nature of the study design. Demodex mites might have a role in acne pathogenesis in patients with polycystic ovary syndrome. Anti-Demodex treatment may increase the response to treatment of acne. Further studies are indicated.

Comparison of office visit and nurse advice hotline data for syndromic surveillance--Baltimore-Washington, D.C., metropolitan area, 2002.

PubMed

Henry, Jade Vu; Magruder, S; Snyder, M

2004-09-24

Kaiser Permanente of the Mid-Atlantic States (KPMAS) is collaborating with the Electronic Surveillance System for Early Notification of Community-Based Epidemics II (ESSENCE II) program to understand how managed-care data can be effectively used for syndromic surveillance. This study examined whether KPMAS nurse advice hotline data would be able to predict the syndrome diagnoses made during subsequent KPMAS office visits. All nurse advice hotline calls during 2002 that were linked to an outpatient office visit were identified. By using International Classification of Diseases, Ninth Revision (ICD-9) codes, outpatient visits were categorized into seven ESSENCE II syndrome groups (coma, gastrointestinal, respiratory, neurologic, hemorrhagic, infectious dermatologic, and fever). Nurse advice hotline calls were categorized into ESSENCE II syndrome groups on the basis of the advice guidelines assigned. For each syndrome group, the sensitivity, specificity, and positive predictive value of hotline calls were calculated by using office visits as a diagnostic standard. For matching syndrome call-visit pairs, the lag (i.e., the number of hours that elapsed between the date and time the patient spoke to an advice nurse and the date and time the patient made an office visit) was calculated. Of all syndrome groups, the sensitivity of hotline calls for respiratory syndrome was highest (74.7%), followed by hotline calls for gastrointestinal syndrome (72.0%). The specificity of all nurse advice syndrome groups ranged from 88.9% to 99.9%. The mean lag between hotline calls and office visits ranged from 8.3 to 50 hours, depending on the syndrome group. The timeliness of hotline data capture compared with office visit data capture, as well as the sensitivity and specificity of hotline calls for detecting respiratory and gastrointestinal syndromes, indicate that KPMAS nurse advice hotline data can be used to predict KPMAS syndromic outpatient office visits.

Psychological Well-being in Fathers of Adolescents and Young Adults with Down Syndrome, Fragile X Syndrome, and Autism.

PubMed

Hartley, Sigan L; Seltzer, Marsha Mailick; Head, Lara; Abbeduto, Leonard

2012-04-01

The psychological well-being of fathers of children with developmental disabilities remains poorly understood. The present study examined depressive symptoms, pessimism, and coping in fathers of adolescents and young adults with Down syndrome (DS; n = 59), autism spectrum disorders (ASDs; n = 135), and fragile X syndrome (FXS; n = 46) Fathers of sons/daughters with ASDs reported a higher level of depressive symptoms than the other groups of fathers. Fathers of sons/daughters with DS reported a lower level of pessimism than the other groups of fathers. There were no group differences in paternal coping style. Group differences in paternal depressive symptoms and pessimism were, in part, related to differences in paternal age, the child's behavior problems, risk of having additional children with a disability, and maternal depressive symptoms. Findings from this study can be used to educate providers and design services for fathers during the later parenting years.

Psychological Well-being in Fathers of Adolescents and Young Adults with Down Syndrome, Fragile X Syndrome, and Autism

PubMed Central

Hartley, Sigan L.; Seltzer, Marsha Mailick; Head, Lara; Abbeduto, Leonard

2011-01-01

The psychological well-being of fathers of children with developmental disabilities remains poorly understood. The present study examined depressive symptoms, pessimism, and coping in fathers of adolescents and young adults with Down syndrome (DS; n = 59), autism spectrum disorders (ASDs; n = 135), and fragile X syndrome (FXS; n = 46) Fathers of sons/daughters with ASDs reported a higher level of depressive symptoms than the other groups of fathers. Fathers of sons/daughters with DS reported a lower level of pessimism than the other groups of fathers. There were no group differences in paternal coping style. Group differences in paternal depressive symptoms and pessimism were, in part, related to differences in paternal age, the child’s behavior problems, risk of having additional children with a disability, and maternal depressive symptoms. Findings from this study can be used to educate providers and design services for fathers during the later parenting years. PMID:22611299

[Correlation between obstructive apnea syndrome and difficult airway in ENT surgery].

PubMed

Pera, Marcia Hiray; Tardelli, Maria Angela; Novo, Neil Ferreira; Juliano, Yara; Silva, Helga Cristina Almeida da

2017-12-21

ENT patients with obstructive sleep apnea syndrome have a tendency of collapsing the upper airways in addition to anatomical obstacles. Obstructive sleep apnea syndrome is related to the increased risk of difficult airway and also increased perioperative complications. In order to identify these patients in the preoperative period, the STOP Bang questionnaire has been highlighted because it is summarized and easy to apply. Evaluate through the STOP Bang questionnaire whether patients undergoing ENT surgery with a diagnosis of obstructive sleep apnea syndrome have a higher risk of complications, particularly the occurrence of difficult airway. Measurements of anatomical parameters for difficult airway and questionnaire application for clinical prediction of obstructive sleep apnea syndrome were performed in 48 patients with a previous polysomnographic study. The sample detected difficult airway in about 18.7% of patients, all of them with obstructive sleep apnea syndrome. This group had older age, cervical circumference > 40cm, ASA II and Cormack III/IV. Patients with obstructive sleep apnea syndrome had higher body mass index, cervical circumference, and frequent apnea. In subgroup analysis, the group with severe obstructive sleep apnea syndrome showed a significantly higher SB score compared to patients without this syndrome or with a mild/moderate obstructive sleep apnea syndrome. The STOP Bang questionnaire was not able to predict difficult airway and mild obstructive sleep apnea syndrome, but it identified marked obstructive sleep apnea syndrome. All patients with difficult airway had moderate and marked obstructive sleep apnea syndrome, although this syndrome did not involve difficult airway. The variables Cormack III/IV and BMI greater than 35 Kg.m -2 were able to predict difficult airway and obstructive sleep apnea syndrome, respectively. Copyright © 2017 Sociedade Brasileira de Anestesiologia. Publicado por Elsevier Editora Ltda. All rights reserved.

Frailty syndrome in patients with heart rhythm disorders.

PubMed

Mlynarska, Agnieszka; Mlynarski, Rafal; Golba, Krzysztof S

2017-09-01

To assess the prevalence of frailty syndrome in patients with heart rhythm disorders that qualified for pacemaker implantation. The study included 171 patients (83 women, aged 73.9 ± 6.7 years) who qualified for pacemaker implantation as a result of sinus node dysfunction (81 patients) or atrio-ventricular blocks (AVB; 90 patients). A total of 60 patients (25 women, aged 72.40 ± 7.09 years) without heart rhythm disorders were included in the control group. Frailty syndrome was diagnosed using the Canadian Study of Health and Aging Clinical Frailty Scale test. Frailty syndrome was diagnosed in 25.15% of the patients, and pre-frailty in 36.84% of the patients. Frailty syndrome was diagnosed in 10% of the control group, and the average value of frailty was 3.35 ± 0.92. Frailty occurred significantly more often among patients with AVB (33.34%) compared with patients who were diagnosed with sinus node dysfunction (16.05%); P = 0.0081. The average score of frailty for sinus node dysfunction was 3.71 ± 0.89, and for AVB it was 4.14 ± 0.93; P = 0.0152. In the case of AVB, the women had a statistically more intense level of frailty of 4.54 ± 0.90 as compared with the men 3.87 ± 0.85; P = 0.0294. In the multiple logistic analysis, the presence of any arrhythmia was strongly associated with frailty syndrome (OR 2.1286, 95% CI 1.4594 - 3.1049; P = 0.0001). Frailty syndrome was diagnosed in one-quarter of patients with cardiac arrhythmias, whereas a further 40% were at a higher risk of frailty syndrome, and its occurrence was significantly higher if compared with the control group. Frailty occurred significantly more often among patients with atrio-ventricular blocks, especially in women. The results of the present research showed that there is a statistical association between frailty and arrhythmias. Geriatr Gerontol Int 2017; 17: 1313-1318. © 2016 Japan Geriatrics Society.

ASB clinical biomechanics award winner 2006 prospective study of the biomechanical factors associated with iliotibial band syndrome.

PubMed

Noehren, Brian; Davis, Irene; Hamill, Joseph

2007-11-01

Iliotibial band syndrome is the leading cause of lateral knee pain in runners. Despite its high prevalence, little is known about the biomechanics that lead to this syndrome. The purpose of this study was to prospectively compare lower extremity kinematics and kinetics between a group of female runners who develop iliotibial band syndrome compared to healthy controls. It was hypothesized that runners who develop iliotibial band syndrome will exhibit greater peak hip adduction, knee internal rotation, rearfoot eversion and no difference in knee flexion at heel strike. Additionally, the iliotibial band syndrome group were expected to have greater hip abduction, knee external rotation, and rearfoot inversion moments. A group of healthy female recreational runners underwent an instrumented gait analysis and were then followed for two years. Eighteen runners developed iliotibial band syndrome. Their initial running mechanics were compared to a group of age and mileage matched controls with no history of knee or hip pain. Comparisons of peak hip, knee, rearfoot angles and moments were made during the stance phase of running. Variables of interest were averaged over the five running trials, and then averaged across groups. The iliotibial band syndrome group exhibited significantly greater hip adduction and knee internal rotation. However, rearfoot eversion and knee flexion were similar between groups. There were no differences in moments between groups. The development of iliotibial band syndrome appears to be related to increased peak hip adduction and knee internal rotation. These combined motions may increase iliotibial band strain causing it to compress against the lateral femoral condyle. These data suggest that treatment interventions should focus on controlling these secondary plane movements through strengthening, stretching and neuromuscular re-education.

Memory Skills of Boys with Fragile X Syndrome

ERIC Educational Resources Information Center

Ornstein, Peter A.; Schaaf, Jennifer M.; Hooper, Stephen R.; Hatton, Deborah D.; Mirrett, Penny; Bailey, Donald B., Jr.

2008-01-01

Multiple aspects of memory were examined in 42 boys with fragile X syndrome and a comparison group of 42 typically developing boys matched on MA. Working memory, incidental memory, and deliberate memory were assessed with a battery that included both free-recall and recognition tasks. Findings indicated that boys with fragile X syndrome performed…

Manual Physical Therapy Versus Surgery for Carpal Tunnel Syndrome: A Randomized Parallel-Group Trial.

PubMed

Fernández-de-Las Peñas, César; Ortega-Santiago, Ricardo; de la Llave-Rincón, Ana I; Martínez-Perez, Almudena; Fahandezh-Saddi Díaz, Homid; Martínez-Martín, Javier; Pareja, Juan A; Cuadrado-Pérez, Maria L

2015-11-01

This randomized clinical trial investigated the effectiveness of surgery compared with physical therapy consisting of manual therapies including desensitization maneuvers in carpal tunnel syndrome (CTS). The setting was a public hospital and 2 physical therapy practices in Madrid, Spain. One hundred twenty women with CTS were enrolled between February 2013 and January 2014, with 1-year follow-up completed in January 2015. Interventions consisted of 3 sessions of manual therapies including desensitization maneuvers of the central nervous system (physical therapy group, n = 60) or decompression/release of the carpal tunnel (surgical group, n = 60). The primary outcome was pain intensity (mean pain and the worst pain), and secondary outcomes included functional status and symptoms severity subscales of the Boston Carpal Tunnel Questionnaire and the self-perceived improvement. They were assessed at baseline and 1, 3, 6, and 12 months by a blinded assessor. Analysis was by intention to treat. At 12 months, 111 (92%) women completed the follow-up (55/60 physical therapy, 56/60 surgery). Adjusted analyses showed an advantage (all, P < .01) for physical therapy at 1 and 3 months in mean pain (Δ -2.0 [95% confidence interval (CI) -2.8 to -1.2]/-1.3 [95% CI -2.1 to -.6]), the worst pain (Δ -2.9 [-4.0 to -2.0]/-2.0 [-3.0 to -.9]), and function (Δ -.8 [-1.0 to -.6]/-.3 [-.5 to -.1]), respectively. Changes in pain and function were similar between the groups at 6 and 12 months. The 2 groups had similar improvements in the symptoms severity subscale of the Boston Carpal Tunnel Questionnaire at all follow-ups. In women with CTS, physical therapy may result in similar outcomes on pain and function to surgery. http://www.clinicaltrials.gov, ClinicalTrials.gov, NCT01789645. This study found that surgery and physical manual therapies including desensitization maneuvers of the central nervous system were similarly effective at medium-term and long-term follow-ups for improving pain

Down Syndrome and Short-Term Memory Impairment: A Storage or Retrieval Deficit?

ERIC Educational Resources Information Center

Adler, Sol; McDade, Hiram L.

1980-01-01

Three groups of eight Ss (Down's syndrome, CA control, and MA control) received a battery of tests to assess recall and recognition memory using either auditory or visual input with verbal and nonverbal responses. Results indicated that the Down's syndrome group possessed deficits in both storage and retrieval abilities, with storage of visually…

Oxidative status and lipid profile in metabolic syndrome: gender differences.

PubMed

Kaya, Aysem; Uzunhasan, Isil; Baskurt, Murat; Ozkan, Alev; Ataoglu, Esra; Okcun, Baris; Yigit, Zerrin

2010-02-01

Metabolic syndrome is associated with cardiovascular disease and oxidative stress. The aim of this study was to investigate the differences of novel oxidative stress parameters and lipid profiles in men and women with metabolic syndrome. The study population included 88 patients with metabolic syndrome, consisting of 48 postmenauposal women (group I) and 40 men (group II). Premenauposal women were excluded. Plasma levels of total antioxidant status (TAS) and total oxidative status (TOS) were determined by using the Erel automated measurement method, and oxidative stress index (OSI) was calculated. To perform the calculation, the resulting unit of TAS, mmol Trolox equivalent/L, was converted to micromol equivalent/L and the OSI value was calculated as: OSI = [(TOS, micromol/L)/(TAS, mmol Trolox equivalent/L) x 100]. The Student t-test, Mann-Whitney-U test, and chi-squared test were used for statistical analysis; the Pearson correlation coefficient and Spearman rank test were used for correlation analysis. P < or = 0.05 was considered to be statistically significant. Both women and men had similar properties regarding demographic characteristics and biochemical work up. Group II had significantly lower levels of antioxidant levels of TAS and lower levels of TOS and OSI compared with group I (P = 0.0001, P = 0.0035, and P = 0,0001). Apolipoprotein A (ApoA) levels were significantly higher in group I compared with group II. Our findings indicate that women with metabolic syndrome have a better antioxidant status and higher ApoA levels compared with men. Our findings suggest the existence of a higher oxidative stress index in men with metabolic syndrome. Considering the higher risk of atherosclerosis associated with men, these novel oxidative stress parameters may be valuable in the evaluation of patients with metabolic sydrome.

Polycystic ovary syndrome: perceptions and attitudes of women and primary health care physicians on features of PCOS and renaming the syndrome.

PubMed

Teede, Helena; Gibson-Helm, Melanie; Norman, Robert J; Boyle, Jacqueline

2014-01-01

Polycystic ovary syndrome (PCOS) is an under-recognized, common, and complex endocrinopathy. The name PCOS is a misnomer, and there have been calls for a change to reflect the broader clinical syndrome. The aim of the study was to determine perceptions held by women and primary health care physicians around key clinical features of PCOS and attitudes toward current and alternative names for the syndrome. We conducted a cross-sectional study utilizing a devised questionnaire. Participants were recruited throughout Australia via professional associations, women's health organizations, and a PCOS support group. Fifty-seven women with PCOS and 105 primary care physicians participated in the study. Perceptions of key clinical PCOS features and attitudes toward current and alternative syndrome names were investigated. Irregular periods were identified as a key clinical feature of PCOS by 86% of the women with PCOS and 90% of the primary care physicians. In both groups, 60% also identified hormone imbalance as a key feature. Among women with PCOS, 47% incorrectly identified ovarian cysts as key, 48% felt the current name is confusing, and 51% supported a change. Most primary care physicians agreed that the name is confusing (74%) and needs changing (81%); however, opinions on specific alternative names were divided. The name "polycystic ovary syndrome" is perceived as confusing, and there is general support for a change to reflect the broader clinical syndrome. Engagement of primary health care physicians and consumers is strongly recommended to ensure that an alternative name enhances understanding and recognition of the syndrome and its complex features.

Down syndrome: national conference on patient registries, research databases, and biobanks.

PubMed

Oster-Granite, Mary Lou; Parisi, Melissa A; Abbeduto, Leonard; Berlin, Dorit S; Bodine, Cathy; Bynum, Dana; Capone, George; Collier, Elaine; Hall, Dan; Kaeser, Lisa; Kaufmann, Petra; Krischer, Jeffrey; Livingston, Michelle; McCabe, Linda L; Pace, Jill; Pfenninger, Karl; Rasmussen, Sonja A; Reeves, Roger H; Rubinstein, Yaffa; Sherman, Stephanie; Terry, Sharon F; Whitten, Michelle Sie; Williams, Stephen; McCabe, Edward R B; Maddox, Yvonne T

2011-01-01

A December 2010 meeting, "Down Syndrome: National Conference on Patient Registries, Research Databases, and Biobanks," was jointly sponsored by the Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) at the National Institutes of Health (NIH) in Bethesda, MD, and the Global Down Syndrome Foundation (GDSF)/Linda Crnic Institute for Down Syndrome based in Denver, CO. Approximately 70 attendees and organizers from various advocacy groups, federal agencies (Centers for Disease Control and Prevention, and various NIH Institutes, Centers, and Offices), members of industry, clinicians, and researchers from various academic institutions were greeted by Drs. Yvonne Maddox, Deputy Director of NICHD, and Edward McCabe, Executive Director of the Linda Crnic Institute for Down Syndrome. They charged the participants to focus on the separate issues of contact registries, research databases, and biobanks through both podium presentations and breakout session discussions. Among the breakout groups for each of the major sessions, participants were asked to generate responses to questions posed by the organizers concerning these three research resources as they related to Down syndrome and then to report back to the group at large with a summary of their discussions. This report represents a synthesis of the discussions and suggested approaches formulated by the group as a whole. Copyright © 2011. Published by Elsevier Inc. All rights reserved.

Nonsurgically treated carpal tunnel syndrome in the manual worker.

PubMed

Monsivais, J J; Bucher, P A; Monsivais, D B

1994-10-01

This study evaluates the course of carpal tunnel syndrome in a group of manual laborers who declined surgery for personal or social reasons. Thirty-five patients and 67 extremities with carpal tunnel syndrome were evaluated in a group of manual laborers. The carpal tunnel syndrome was classified as mild, moderate, or severe on the basis of initial evaluation data. Sensory batteries, motor and sensory conduction velocities, and electrical studies were performed on a scheduled basis. Follow-up ranged between 14 and 58 months, with an average of 34.3 months. Three patients became worse and one improved during the study period. All others remained unchanged. Six patients returned to work, but only three returned to their original jobs. Although carpal tunnel syndrome does not appear to be a progressive condition once the triggering cause is removed, nonsurgical treatment does not seem to be the treatment of choice for patients who must continue in a manual labor position.

[Relationship between hyperuricemia and primary nephrotic syndrome in children].

PubMed

Xiao, Huijie; Li, Qian; Wang, Fang; Yao, Yong; Zhong, Xuhui

2014-11-01

To analyze the relationship between hyperuricemia and primary nephrotic syndrome in childhood. A retrospective study was carried out in 107 children with primary nephrotic syndrome. The clinical data were analyzed with statistical methods to identify the related factors with hyperuricemia. The morbidity of hyperuricemia in children with primary nephrotic syndrome was 45% (48/107). Compared to those in normal serum uric acid group, the incidence of hypertension (33%, 16/48), serum triglyceride [2.59(1.62-3.87) mmol/L], creatinine [43.85(33.38-56.38)mmol/L], urea [6.11(3.77-8.40)mmol/L] and blood uric acid/creatinine ratio [9.30(7.03-12.72)] increased while creatinine clearance rate [141.74(103.57-160.97)ml/(min·1.73 (2))] decreased in hyperuricemia group. Hyperuricemia in children with primary nephrotic syndrome correlated with the increase of serum creatinine, urea and blood uric acid/creatinine ratio, the decrease of creatinine clearance rate and the occurance of hypertension.

Poor phonemic discrimination does not underlie poor verbal short-term memory in Down syndrome.

PubMed

Purser, Harry R M; Jarrold, Christopher

2013-05-01

Individuals with Down syndrome tend to have a marked impairment of verbal short-term memory. The chief aim of this study was to investigate whether phonemic discrimination contributes to this deficit. The secondary aim was to investigate whether phonological representations are degraded in verbal short-term memory in people with Down syndrome relative to control participants. To answer these questions, two tasks were used: a discrimination task, in which memory load was as low as possible, and a short-term recognition task that used the same stimulus items. Individuals with Down syndrome were found to perform significantly better than a nonverbal-matched typically developing group on the discrimination task, but they performed significantly more poorly than that group on the recognition task. The Down syndrome group was outperformed by an additional vocabulary-matched control group on the discrimination task but was outperformed to a markedly greater extent on the recognition task. Taken together, the results strongly indicate that phonemic discrimination ability is not central to the verbal short-term memory deficit associated with Down syndrome. Copyright © 2013 Elsevier Inc. All rights reserved.

Colorectal cancer risk in hamartomatous polyposis syndromes

PubMed Central

Campos, Fábio Guilherme; Figueiredo, Marleny Novaes; Martinez, Carlos Augusto Real

2015-01-01

Colorectal cancer (CRC) is a major cause of morbidity and mortality around the world, and approximately 5% of them develop in a context of inherited mutations leading to some form of familial colon cancer syndromes. Recognition and characterization of these patients have contributed to elucidate the genetic basis of CRC. Polyposis Syndromes may be categorized by the predominant histological structure found within the polyps. The aim of the present paper is to review the most important clinical features of the Hamartomatous Polyposis Syndromes, a rare group of genetic disorders formed by the peutz-Jeghers syndrome, juvenil polyposis syndrome and PTEN Hamartoma Tumor Syndrome (Bannayan-Riley-Ruvalacaba and Cowden Syndromes). A literature search was performed in order to retrieve the most recent and important papers (articles, reviews, clinical cases and clinical guidelines) regarding the studied subject. We searched for terms such as “hamartomatous polyposis syndromes”, “Peutz-Jeghers syndrome”, “juvenile polyposis syndrome”, “juvenile polyp”, and “PTEN hamartoma tumour syndrome” (Cowden syndrome, Bananyan-Riley-Ruvalcaba). The present article reports the wide spectrum of disease severity and extraintestinal manifestations, with a special focus on their potential to develop colorectal and other neoplasia. In the literature, the reported colorectal cancer risk for Juvenile Polyposis, Peutz-Jeghers and PTEN Hamartoma Tumor Syndromes are 39%-68%, 39%-57% and 18%, respectively. A review regarding cancer surveillance recommendations is also presented. PMID:25848489

Cerebral specialization for spatial processing in adults with Down syndrome.

PubMed

Elliott, D; Pollock, B J; Chua, R; Weeks, D J

1995-05-01

Cerebral specialization for spatial processing in adults with Down syndrome was examined. In the first experiment, both control and right-handed subjects with Down syndrome exhibited no lateral advantage in a dihaptic shape-matching task, whereas left-handed subjects with Down syndrome displayed an expected left-hand advantage. In a visual field dot enumeration task in the second experiment, all groups exhibited left-field superiority. Thus, atypical cerebral organization of function in adults with Down syndrome appears to be confined to speech perception (Elliott & Weeks, 1993).

Clinical and microbiologic study of periodontitis associated with Kindler syndrome.

PubMed

Wiebe, Colin B; Penagos, Homero; Luong, Nancy; Slots, Jørgen; Epstein, Ervin; Siegel, Dawn; Häkkinen, Lari; Putnins, Edward E; Larjava, Hannu S

2003-01-01

Little is known about the onset and prevalence of periodontal disease in patients with the rare Kindler syndrome, a genodermatological disorder. This study investigated the level of clinical periodontal attachment in relation to age and presence of putative periodontopathogenic bacteria in individuals with Kindler syndrome. Eighteen individuals diagnosed with Kindler syndrome and 13 control subjects, aged 4 to 37 years, from rural Panama received a limited clinical periodontal examination. Subgingival samples were collected for identification of putative periodontal pathogens by polymerase chain reaction. Mild to severe gingivitis was a common finding in all adults of the study population. Seventy-two percent (13/18) of the Kindler patients and 46% (6/13) of the control subjects showed mild to severe periodontal disease (P = 0.001, chi-square test). The onset of periodontitis was earlier and the progression occurred at a faster rate in the Kindler group. There was a strong correlation (r = 0.83) between the level of attachment loss and age in the Kindler group and a weaker correlation (r = 0.66) in the control group. The appearance of gingival tissues suggested atypical periodontitis with spontaneous bleeding and fragile, often desquamative, gingiva. In periodontitis patients, Porphyromonas gingivallis and Diallster pneumosintes tended to occur more frequently in control individuals compared to those with Kindler syndrome. In the Kindler group, periodontitis had an onset in early teenage years and progressed more rapidly compared to non-Kindler individuals of the same geographic and ethnic group. Clinical and microbiological findings suggest atypical periodontitis in Kindler patients. We propose to include Kindler syndrome in the category of medical disorders predisposing to destructive periodontal disease.

Paraneoplastic syndromes

DOE Office of Scientific and Technical Information (OSTI.GOV)

Weller, R.E.

1994-03-01

Paraneoplastic syndromes (PNS) comprise a diverse group of disorders that are associated with cancer but unrelated to the size, location, metastases, or physiologic activities of the mature tissue of origin. They are remote effects of tumors that may appear as signs, symptoms, or syndromes which can mimic other disease conditions encountered in veterinary medicine. Recognition of PNS is valuable for several reasons: the observed abnormalities may represent tumor cell markers and facilitate early diagnosis of the tumor; they may allow assessment of premalignant states; they may aid in the search metastases; they may help quantify and monitor response to therapy;more » and, they may provide insight into the study of malignant transformation and oncogene expression. This review will concentrate on the pathophysiology, diagnosis, and treatment of some of the common PNS encountered in veterinary medicine.« less

Persistence survey of toxic shock syndrome toxin-1 producing Staphylococcus aureus and serum antibodies to this superantigen in five groups of menstruating women.

PubMed

Parsonnet, Jeffrey; Hansmann, Melanie A; Seymour, Jon L; Delaney, Mary L; Dubois, Andrea M; Modern, Paul A; Jones, Michaelle B; Wild, John E; Onderdonk, Andrew B

2010-08-23

Menstrual Toxic Shock Syndrome (mTSS) is thought to be associated with the vaginal colonization with specific strains of Staphylococcus aureus TSST-1 in women who lack sufficient antibody titers to this toxin. There are no published studies that examine the seroconversion in women with various colonization patterns of this organism. Thus, the aim of this study was to evaluate the persistence of Staphylococcus aureus colonization at three body sites (vagina, nares, and anus) and serum antibody to toxic shock syndrome toxin-producing Staphylococcus aureus among a small group of healthy, menstruating women evaluated previously in a larger study. One year after the completion of that study, 311 subjects were recalled into 5 groups. Four samples were obtained from each participant at several visits over an additional 6-11 month period: 1) an anterior nares swab; 2) an anal swab; 3) a vagina swab; and 4) a blood sample. Gram stain, a catalase test, and a rapid S. aureus-specific latex agglutination test were performed to phenotypically identify S. aureus from sample swabs. A competitive ELISA was used to quantify TSST-1 production. Human TSST-1 IgG antibodies were determined from the blood samples using a sandwich ELISA method. We found only 41% of toxigenic S. aureus and 35.5% of non-toxigenic nasal carriage could be classified as persistent. None of the toxigenic S. aureus vaginal or anal carriage could be classified as persistent. Despite the low persistence of S. aureus colonization, subjects colonized with a toxigenic strain were found to display distributions of antibody titers skewed toward higher titers than other subjects. Seven percent (5/75) of subjects became seropositive during recall, but none experienced toxic shock syndrome-like symptoms. Nasal carriage of S. aureus appears to be persistent and the best predicator of subsequent colonization, whereas vaginal and anal carriage appear to be more transient. From these findings, it appears that antibody titers

Subjective and objective voice evaluation in Sjögren's syndrome.

PubMed

Saltürk, Ziya; Özdemir, Erdi; Kumral, Tolgar Lütfi; Karabacakoğlu, Zeynep; Kumral, Esra; Yildiz, Hatice Elvin; Mersinlioğlu, Gökhan; Atar, Yavuz; Berkiten, Güler; Yildirim, Güven; Uyar, Yavuz

2017-04-01

Objective The aim of this study is to assess the subjective and objective aspects of voice in Sjögren's syndrome. Methods The study enrolled 10 women with Sjögren's syndrome and 12 healthy women. Maximum phonation time, fundamental frequency, jitter, shimmer, and noise-to-harmonics ratio were determined during acoustic voice analysis. The Stroboscopy Evaluation Rating Form was used for the laryngostroboscopic evaluation. A subjective evaluation was performed using the Turkish version of Voice Handicap Index-10. Results The mean age of the Sjögren's syndrome and control groups was 46 ± 13.89 and 41.27 ± 6.99 years, respectively, and did not differ (P = 0.131). In the laryngostroboscopic evaluation, the smoothness and straightness of vocal folds, regularity, and glottal closure differed significantly. In the acoustic and aerodynamic analyses, none of the parameters differed statistically, while the Sjögren's syndrome group had significantly higher Voice Handicap Index-10 scores than the controls. Conclusion Sjögren's syndrome affects the voice and voice quality.

Prevalence of metabolic syndrome and associated risk factors in Asian Indians.

PubMed

Balasubramanyam, Ajay; Rao, Shaun; Misra, Ranjita; Sekhar, Rajagopal V; Ballantyne, Christie M

2008-08-01

This study examined the association between metabolic syndrome, lifestyle behaviors, and perception and knowledge of current health and cardiovascular disease (CVD) among Asian Indians in the US. The sample comprised of 143 adult Asian Indians recruited through health fairs for survey and bioclinical measures. The prevalence of metabolic syndrome was 32%, much higher than other ethnic groups, did not vary by gender but increased with age. Respondents had high physical inactivity and poor knowledge of CVD risk factors. Dietary behavior, age, number of years lived in the US, self-rated physical and mental health and BMI were significant predictors and explained 40.1% of variance in metabolic syndrome score. Poorer physical health status had the greatest predictive influence on metabolic syndrome. Asian Indians are a high risk group for CVD.

An assessment of fatigue in patients with postural orthostatic tachycardia syndrome.

PubMed

Wise, Shelby; Ross, Amanda; Brown, Abigail; Evans, Meredyth; Jason, Leonard

2017-05-01

Individuals with postural orthostatic tachycardia syndrome share many symptoms with those who have chronic fatigue syndrome; one of which is severe fatigue. Previous literature found that those with chronic fatigue syndrome experience many forms of fatigue. The goal of this study was to investigate whether individuals with postural orthostatic tachycardia syndrome also experience multidimensional fatigue and whether these individuals can be clustered into subgroups based on the types of fatigue they endorse. A convenience sample of 138 participants (aged 14-29) with postural orthostatic tachycardia syndrome completed questionnaires that assessed fatigue, brain fog symptom severity, activities that improve brain fog, and brain fog-related disability. An exploratory factor analysis was conducted on the Fatigue Types Questionnaire, and a three-factor solution was produced. Factor scores were then used to cluster the patients into groups using a TwoStep cluster analysis. This resulted in two clusters, a high severity group and a low severity group. The clusters were then compared on a number of items related to symptom expression. Individuals within the more severe cluster had significantly more brain fog at the beginning and end of the survey when compared to cluster two. Those in the more severe cluster also described more activity impairment as well as more frequent, more severe, and more debilitation from postural orthostatic tachycardia syndrome and brain fog. The findings of the factor analysis suggest that patients with postural orthostatic tachycardia syndrome experience fatigue as a multidimensional construct and they also can be subgrouped based on symptom severity.

Morphological and Glucose Metabolism Abnormalities in Alcoholic Korsakoff's Syndrome: Group Comparisons and Individual Analyses

PubMed Central

Pitel, Anne-Lise; Aupée, Anne-Marie; Chételat, Gaël; Mézenge, Florence; Beaunieux, Hélène; de la Sayette, Vincent; Viader, Fausto; Baron, Jean-Claude; Eustache, Francis; Desgranges, Béatrice

2009-01-01

Background Gray matter volume studies have been limited to few brain regions of interest, and white matter and glucose metabolism have received limited research attention in Korsakoff's syndrome (KS). Because of the lack of brain biomarkers, KS was found to be underdiagnosed in postmortem studies. Methodology/Principal Findings Nine consecutively selected patients with KS and 22 matched controls underwent both structural magnetic resonance imaging and 18F-fluorodeoxyglucose positron emission tomography examinations. Using a whole-brain analysis, the between-group comparisons of gray matter and white matter density and relative glucose uptake between patients with KS and controls showed the involvement of both the frontocerebellar and the Papez circuits, including morphological abnormalities in their nodes and connection tracts and probably resulting hypometabolism. The direct comparison of the regional distribution and degree of gray matter hypodensity and hypometabolism within the KS group indicated very consistent gray matter distribution of both abnormalities, with a single area of significant difference in the middle cingulate cortex showing greater hypometabolism than hypodensity. Finally, the analysis of the variability in the individual patterns of brain abnormalities within our sample of KS patients revealed that the middle cingulate cortex was the only brain region showing significant GM hypodensity and hypometabolism in each of our 9 KS patients. Conclusions/Significance These results indicate widespread brain abnormalities in KS including both gray and white matter damage mainly involving two brain networks, namely, the fronto-cerebellar circuit and the Papez circuit. Furthermore, our findings suggest that the middle cingulate cortex may play a key role in the pathophysiology of KS and could be considered as a potential in vivo brain biomarker. PMID:19936229

Dry eye syndrome. Etiological and therapeutic aspects.

PubMed

Apostol, Silvia; Filip, M; Dragne, Carmen; Filip, A

2003-01-01

"Dry eye syndrome" is a common disorder of the tear film that results from inadequate tear production, excessive tear evaporation or abnormality in mucin or lipid components of the tear film. A number of 53 patients suffering from dry eye syndrome were followed up for a period of 18 months. The study group was heterogeneous, including a lot of conditions accompanied by dry eye syndrome: Syogren's syndrome, lupus erythematous, ocular rosacea, patients with systemic treatments with antidepressants, betablockers, diuretics, oral contraceptives, glaucomatous patients with topical beta-blockers, postmenopausal women, aging people, computer users and long-term contact lens wearers. The therapeutical options were dictated by the severity of the syndrome: substitution therapy, treatment of the underlying eyelid diseases, modifying of the environmental conditions and treatment of the complications in the most severe cases. The new pathological approach is innovative and it may provide a real therapeutical measure for this condition: topical A Cyclosporine and androgen drops.

Malignancy in Noonan syndrome and related disorders.

PubMed

Smpokou, P; Zand, D J; Rosenbaum, K N; Summar, M L

2015-12-01

Noonan syndrome (NS) and related disorders, such as NS with multiple lentigines (formerly called LEOPARD syndrome), cardiofaciocutaneous syndrome, and Costello syndrome, constitute an important group of developmental malformation syndromes with variable clinical and molecular features. Their underlying pathophysiologic mechanism involves dysregulation of the Ras/mitogen-activated protein kinase signaling pathway, an essential mediator of developmental and growth processes in the prenatal and postnatal setting. Malignant tumor development is an important complication encountered in other RASopathies, such as neurofibromatosis type 1, but the neoplastic risks and incidence of malignant tumors are less clearly defined in NS and related disorders of the Noonan spectrum. Malignant tumor development remains an important complication variably seen in the RASopathies and, thus, a clear understanding of the underlying risks is essential for appropriate clinical care in this patient population. This review discusses previously published reports of malignancies in individuals with RASopathies of the Noonan spectrum. © 2015 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

Burnout syndrome in first to sixth-year medical students at a private university in the north of Mexico: descriptive cross-sectional study.

PubMed

Asencio-López, Laura; Almaraz-Celis, Guillermo Daniel; Carrillo Maciel, Vicente; Huerta Valenzuela, Paola; Silva Goytia, Luis; Muñoz Torres, Marcos; Monroy Caballero, Fernando; Regalado Tapia, Joel; Dipp Martin, Kerigma; López Miranda, Dinorah; Medina Lavenant, Clyvia; Pizarro Rodríguez, Karen; Santiago Martínez, Cesar; Saucedo Aparicio, Alma Geovanna; Flores Lepe, Rodolfo

2016-04-25

Burnout syndrome is a three-dimensional clinical syndrome caused by stress at work. It is frequent in professions which require direct contact with people. In Mexico, the presence of Burnout Syndrome in doctors and medical students, is characterized as a threat to their health, quality of life and professional performance. To evaluate the prevalence of burnout syndrome in students of years 1 through 6 of medical school at a private university in northern Mexico. Cross-sectional study in the Escuela de Medicina Campus Laguna de la Universidad Autónoma de Durango. The one-dimensional scale of Burnout Student (EUBE) and the Maslach Burnout Inventory (MBI) were applied to the participants. SPSS 19 was used to analyze the data. Of the 344 students, 255 participated; 153 from years 1 to 3 (group 1); and 72 from years 4 to 6 (group 2). We found that 94.1% of the students of group 1 had mild burnout syndrome, and 2.8% had moderate burnout syndrome. In Group 2, 27.8% had moderate burnout syndrome, and 8.3% had severe burnout syndrome. The prevalence of severe burnout syndrome was higher in group 2 than in group 1 (p=0.02). Burnout syndrome affects medical students across all stages of their studies, and develops in a progressive way. In our study, external factors have no influence on the development of burnout syndrome.

Hair phenotype in non-syndromic deafness.

PubMed

Volo, T; Sathiyaseelan, T; Astolfi, L; Guaran, V; Trevisi, P; Emanuelli, E; Martini, A

2013-08-01

The GJB2 gene is located on chromosome 13q12 and it encodes the connexin 26, a transmembrane protein involved in cell-cell attachment of almost all tissues. GJB2 mutations cause autosomal recessive (DFNB1) and sometimes dominant (DFNA3) non-syndromic sensorineural hearing loss. Moreover, it has been demonstrated that connexins are involved in regulation of growth and differentiation of epidermal tissues. Hence, mutations in GJB2 gene, which is responsible for non-syndromic deafness, may be associated with an abnormal skin and hair phenotype. We analyzed hair samples from 96 subjects: a study group of 42 patients with hearing impairments of genetic origin (38 with a non-syndromic form, 4 with a syndromic form), and a control group including 54 people, i.e. 43 patients with other, non-genetic hearing impairments and 11 healthy volunteers aged up to 10 years old. The surface structure of 49 hair samples was normal, whereas in 45 cases it was altered, with a damaged appearance. Two hair samples were considered unclassifiable: one from the patient heterozygotic for the pendrin mutation (Fig. 2C), the other from a patient from Ghana with a R134W mutation (Fig. 2D). Among the 43 altered hair samples, 31 belonged to patients with connexin mutations and the other 12 came from patients without connexin mutations. Copyright © 2013 Elsevier Ireland Ltd. All rights reserved.

Decline in cerebral glucose utilisation and cognitive function with aging in Down's syndrome.

PubMed Central

Schapiro, M B; Haxby, J V; Grady, C L; Duara, R; Schlageter, N L; White, B; Moore, A; Sundaram, M; Larson, S M; Rapoport, S I

1987-01-01

The cerebral metabolic rate for glucose (CMRglc) was measured with positron emission tomography and [18F]2-fluoro-2-deoxy-D-glucose in 14 healthy subjects with Down's syndrome, 19 to 33 years old, and in six healthy Down's syndrome subjects over 35 years, two of whom were demented. Dementia was diagnosed from a history of mental deterioration, disorientation and hallucinations. All Down's syndrome subjects were trisomy 21 karyotype. CMRglc also was examined in 15 healthy men aged 20-35 years and in 20 healthy men aged 45-64 years. All subjects were at rest with eyes covered and ears plugged. Mean hemispheric CMRglc in the older Down's syndrome subjects was significantly less, by 23%, than in the young Down's syndrome group; statistically significant decreases in regional metabolism (rCMRglc) also were present in all lobar regions. Comparison of the younger control group with the older control group showed no difference in CMRglc or any rCMRglc (p greater than 0.05). Assessment of language, visuospatial ability, attention and memory showed significant reductions in test scores of the old as compared with the young Down's syndrome subjects. These results show that significant age differences in CMRglc and rCMRglc occur in Down's syndrome but not in healthy controls, and that, although only some older Down's syndrome subjects are demented, significant age reductions in neuropsychologic variables occur in all of them. PMID:2956363

Knee Deformities in Children With Down Syndrome: A Focus on Knee Malalignment.

PubMed

Duque Orozco, Maria Del Pilar; Abousamra, Oussama; Chen, Brian Po-Jung; Rogers, Kenneth J; Sees, Julieanne P; Miller, Freeman

Patellofemoral instability (PFI) has been the most reported knee abnormality in people with Down syndrome. Other reported knee abnormalities have been associated with PFI and different management approaches have been described with variable outcomes. The aim of this study was to describe the anatomic variations of the knee in children with Down syndrome. A comparison between knees with and without PFI was performed and our experience in treating knee abnormalities in Down syndrome was also reported. Records of all children with Down syndrome were reviewed. Two groups were identified (knees with and without PFI). Radiographic measurements included the mechanical and anatomic lateral distal femoral angles, medial proximal tibial angle, angle of depression of medial tibial plateau, lateral tibial translation, and distal femoral physis-joint angle. On the lateral view, Insall-Salvati and Blackburne-Peel ratios were measured. The sulcus angle was measured on the tangential view. Measurements were compared between the 2 groups (with and without PFI).Knees with PFI were divided into 3 subgroups based on their treatment (group A: surgical valgus correction, group B: surgical soft tissue procedures for PFI, and group C: conservative treatment). Preoperative radiographs were used for the surgical group and last available radiographs were used for the conservative group. Clinical and radiographic data were compared between the groups. For groups A and B, clinical and radiographic data were also compared between preoperative and last visits. Of the 581 children with Down syndrome, 5% (31 children: 22 females, 9 males) had PFI in 56 knees. Mean age at diagnosis was 11.5±3.5 years. Of the remaining 550 children, 75 children had radiographs for 130 knees. Knees with PFI had significantly more valgus and a larger distal femoral physis-joint angle. Depression of the medial tibial plateau and lateral tibial translation were noted in knees with PFI. Insall-Salvati ratio was higher

The characteristics of autonomic nervous system disorders in burning mouth syndrome and Parkinson disease.

PubMed

Koszewicz, Magdalena; Mendak, Magdalena; Konopka, Tomasz; Koziorowska-Gawron, Ewa; Budrewicz, Sławomir

2012-01-01

To conduct a clinical electrophysiologic evaluation of autonomic nervous system functions in patients with burning mouth syndrome and Parkinson disease and estimate the type and intensity of the autonomic dysfunction. The study involved 83 subjects-33 with burning mouth syndrome, 20 with Parkinson disease, and 30 controls. The BMS group included 27 women and 6 men (median age, 60.0 years), and the Parkinson disease group included 15 women and 5 men (median age, 66.5 years). In the control group, there were 20 women and 10 men (median age, 59.0 years). All patients were subjected to autonomic nervous system testing. In addition to the Low autonomic disorder questionnaire, heart rate variability (HRV), deep breathing (exhalation/inspiration [E/I] ratio), and sympathetic skin response (SSR) tests were performed in all cases. Parametric and nonparametric tests (ANOVA, Kruskal-Wallis, and Scheffe tests) were used in the statistical analysis. The mean values for HRV and E/I ratios were significantly lower in the burning mouth syndrome and Parkinson disease groups. Significant prolongation of SSR latency in the foot was revealed in both burning mouth syndrome and Parkinson disease patients, and lowering of the SSR amplitude occurred in only the Parkinson disease group. The autonomic questionnaire score was significantly higher in burning mouth syndrome and Parkinson disease patients than in the control subjects, with the Parkinson disease group having the highest scores. In patients with burning mouth syndrome, a significant impairment of both the sympathetic and parasympathetic nervous systems was found but sympathetic/parasympathetic balance was preserved. The incidence and intensity of autonomic nervous system dysfunction was similar in patients with burning mouth syndrome and Parkinson disease, which may suggest some similarity in their pathogeneses.

Haplotype frequency distribution for 7 microsatellites in chromosome 8 and 11 in relation to the metabolic syndrome in four ethnic groups: Tehran Lipid and Glucose Study.

PubMed

Daneshpour, Maryam Sadat; Hosseinzadeh, Nima; Zarkesh, Maryam; Azizi, Fereidoun

2012-03-01

Different variants of haplotype frequencies may lead to various frequencies of the same variants in individuals with drug resistance and disease susceptibility at the population level. In this study, the haplotype frequencies of 4 STR loci including the D8S1132, D8S1779, D8S514 and D8S1743, and 3 STR loci including D11S1304, D11S1998 and D11S934 were investigated in 563 individuals of four Iranian ethnic groups in the capital city of Iran, Tehran. One hundred thirty subjects had the metabolic syndrome. Haplotype frequencies of all markers were calculated. There were significant differences in the haplotype frequencies in short and long alleles between the metabolic affected subjects and controls. In addition, haplotype frequencies were significant in the four ethnic groups in both chromosomes 8 and 11. Our findings show a relation between the short allele of D8S1743 in all related haplotype frequencies of subjects with metabolic syndrome. These findings may require more studies of some candidate genes, including the lipoprotein lipase gene, in this chromosomal region. Copyright © 2011. Published by Elsevier B.V.

The metabolic syndrome in polycystic ovary syndrome.

PubMed

Essah, P A; Nestler, J E

2006-03-01

Much overlap is present between the polycystic ovary syndrome (PCOS) and the metabolic syndrome. This article reviews the existing data regarding the prevalence, characteristics, and treatment of the metabolic syndrome in women with PCOS. The prevalence of the metabolic syndrome in PCOS is approximately 43-47%, a rate 2-fold higher than that for women in the general population. High body mass index and low serum HDL cholesterol are the most frequently occurring components of the metabolic syndrome in PCOS. The pathogenic link between the metabolic syndrome and PCOS is most likely insulin resistance. Therefore, the presence of the metabolic syndrome in PCOS suggests a greater degree of insulin resistance compared to PCOS without the metabolic syndrome. Obesity, atherogenic dyslipidemia, hypertension, impaired fasting glucose/impaired glucose tolerance, and vascular abnormalities are all common metabolic abnormalities present in PCOS. Lifestyle modification has proven benefit and pharmacological therapy with insulin-sensitizing agents has potential benefit in the treatment of the metabolic syndrome in women with PCOS.

[Relieving pre-exam anxiety syndrome with wrist-ankle acupuncture: a randomized controlled trial].

PubMed

Shu, Shi; Li, Tong-ming; Fang, Fan-fu; He, Hou-luo; Zhou, Qing-hui; Gu, Wei; Zhou, Shuang

2011-06-01

Pre-exam anxiety syndrome is a common condition occurring in pre-exam students and directly affects their examination performance and physical state. Wrist-ankle acupuncture has significant therapeutic effects in treating mental disorders and may also relieve the symptoms of pre-exam anxiety syndrome. To assess the therapeutic effect of wrist-ankle acupuncture on pre-exam anxiety syndrome. A total of 60 students who met the inclusion criteria of pre-exam anxiety syndrome were enrolled from a university in Shanghai and they were randomly divided into treatment group and control group. There were 30 cases in each group, and no case failed to follow-up. In the treatment group, wrist-ankle acupuncture was adopted to point upper 1 bilaterally (impression between flexor carpi ulnaris tendon and ulnar margin), and there was no requirement for Deqi (arrival of qi). In the control group, sham acupuncture was adopted. The treatment was applied 3 times totally in both groups one week before the exam, once every other day, each time with the needles retained for 30 min. The therapeutic effects were compared between two groups. Before and after 3 treatments, Sarason Test Anxiety Scale (TAS) and Expectation and Treatment Credibility Scale (ETCS) were measured and evaluated. The therapeutic effect experienced by the treatment group was better than that of the control group (P<0.05). There were no statistically significant differences in TAS and ETCS before treatment between the two groups. The scores of TAS after treatment in two groups were higher than those before treatment (P<0.05, P<0.01). There were statistical differences in TAS absolute difference and TAS relative difference between the two groups and the treatment group had better results (P<0.05, P<0.01). After treatment, patients in the treatment group had higher scores in ETCS than those in the control group (P<0.05, P<0.01). No adverse reaction was reported. Wrist-ankle acupuncture can relieve the symptoms of pre

Association between Metabolic Syndrome and Gallbladder Polyps in Healthy Korean Adults

PubMed Central

Park, Eun Jung; Lee, Hong Soo; Lee, Sang Hwa; Chun, Hye Jin; Kim, Sun Young; Choi, Yu Kyung; Ryu, Hee Jeong

2013-01-01

The goal of this study was to evaluate the association between gallbladder (GB) polyps and metabolic syndrome. A total of 5,685 healthy subjects were included, and 485 of these subjects had GB polyps and 744 had metabolic syndrome. In this study, metabolic syndrome was diagnosed according to standards suggested by the AHA/NHLBI ATP III 2005, and abdominal obesity (≥ 90 cm in men and ≥ 85 cm in women for Korean) was diagnosed according to standards set forth by the Korean Society for Study of Obesity. Biphasic logistic regression adjusted for age and gender was used to evaluate the association between metabolic syndrome and GB polyps. Subjects who were male (OR, 1.493; 95% CI, 1.11-2.00) and hepatitis B suface Ag (HBsAg) positive (OR, 1.591; 95% CI, 1.06-2.38) were significantly more likely to have GB polyps. The metabolic syndrome group had a higher risk of GB polyps (OR, 1.315; 95% CI, 1.01-1.69) than the group without metabolic syndrome. In conclusion, subjects who were HBsAg positive and male appear to be associated with the risk of GB polyps. The presence of metabolic syndrome also appears to be associated with the risk of GB polyps in Koreans. PMID:23772152

Association between metabolic syndrome and gallbladder polyps in healthy Korean adults.

PubMed

Park, Eun Jung; Lee, Hong Soo; Lee, Sang Hwa; Chun, Hye Jin; Kim, Sun Young; Choi, Yu Kyung; Ryu, Hee Jeong; Shim, Kyung Won

2013-06-01

The goal of this study was to evaluate the association between gallbladder (GB) polyps and metabolic syndrome. A total of 5,685 healthy subjects were included, and 485 of these subjects had GB polyps and 744 had metabolic syndrome. In this study, metabolic syndrome was diagnosed according to standards suggested by the AHA/NHLBI ATP III 2005, and abdominal obesity (≥ 90 cm in men and ≥ 85 cm in women for Korean) was diagnosed according to standards set forth by the Korean Society for Study of Obesity. Biphasic logistic regression adjusted for age and gender was used to evaluate the association between metabolic syndrome and GB polyps. Subjects who were male (OR, 1.493; 95% CI, 1.11-2.00) and hepatitis B suface Ag (HBsAg) positive (OR, 1.591; 95% CI, 1.06-2.38) were significantly more likely to have GB polyps. The metabolic syndrome group had a higher risk of GB polyps (OR, 1.315; 95% CI, 1.01-1.69) than the group without metabolic syndrome. In conclusion, subjects who were HBsAg positive and male appear to be associated with the risk of GB polyps. The presence of metabolic syndrome also appears to be associated with the risk of GB polyps in Koreans.

Study on the correlation between KCNJ11 gene polymorphism and metabolic syndrome in the elderly.

PubMed

Jiang, Fan; Liu, Ning; Chen, Xiao Zhuang; Han, Kun Yuan; Zhu, Cai Zhong

2017-09-01

The aim of the study was to examine the correlation between KCNJ11 gene polymorphism and metabolic syndrome in elderly patients. From January 2014 to January 2015, 54 elderly patients with metabolic syndrome were enrolled in this study as the observation group. During the same period, 46 healthy elderly individuals were enrolled in this study as the control group. KCNJ11 gene polymorphism (rs28502) was analyzed using polymerase chain reaction-restriction fragment length polymorphism. The expression levels of mRNA in different genotypes were detected using FQ-PCR. ELISA was used to evaluate the KCNJ11 protein expression in different genotypes. KCNJ11 gene polymorphism and metabolic syndrome was studied by measuring the blood pressure levels in patients with different genotypes. Three genotypes of KCNJ11 gene in rs28502 were CC, CT and TT. The CC, CT and TT genotype frequencies in healthy population were 8.5, 9.2 and 82.2%, respectively, while the genotype frequencies in patients with metabolic syndrome were 42.4, 49.8 and 7.8%, respectively. There were significant differences between groups (P≤0.05). However, the genotype frequencies of C/T in healthy individuals and metabolic syndrome patients were 35.3 and 38.3%, respectively. There were no significant differences between groups (P>0.05). FQ-PCR results showed that the KCNJ11 mRNA expression levels in the control and observation groups had no significant differences (P>0.05). However, the results obtained from ELISA analysis revealed that KCNJ11 protein expression level in the observation group was significantly higher than that in the control group (P<0.05). In conclusion, KCNJ11 gene polymorphism is associated with metabolic syndrome in the elderly. Elderly patients with the CC and TT genotypes are more likely to develop metabolic syndrome.

Attention skills and executive functioning in children with Noonan syndrome and their unaffected siblings.

PubMed

Pierpont, Elizabeth I; Tworog-Dube, Erica; Roberts, Amy E

2015-04-01

Emerging research indicates that gene mutations within the RAS-MAPK signaling cascade, which cause Noonan syndrome and related disorders, affect neurophysiologic activity in brain regions underlying attention and executive functions. The present study examined whether children with Noonan syndrome are at heightened risk for symptoms of attention-deficit-hyperactivity disorder (ADHD) and executive dysfunction relative to an unaffected sibling comparison group, and investigated three key aspects of behavioral attention: auditory attention, sustained attention, and response inhibition. Children and adolescents with Noonan syndrome (n=32, 17 males, 15 females, mean age 11y 3mo, SD 3y) and their unaffected siblings (n=16, eight males, eight females, mean age 11y, SD 3y 6mo) were administered standardized tests of intellectual functioning and clinic-based measures of behavioral attention. Parent ratings of ADHD symptoms, executive functioning, and behavior were also obtained. Children with Noonan syndrome demonstrated higher rates of past ADHD diagnosis, as well as reduced performance compared with unaffected siblings on behavioral attention measures. Parent-rated functional impairments in attention, social skills, working memory, and self-monitoring were more prevalent in the Noonan syndrome group. The relationship between attention regulation skills (sustained attention and inhibitory control) and intellectual test performance was significantly stronger in the Noonan syndrome group than the comparison group. Clinical screening/evaluation for ADHD and executive dysfunction in Noonan syndrome is recommended to facilitate appropriate intervention and to address functional impact on daily life activities. © 2014 Mac Keith Press.

Single and Multiple Clinical Syndromes in Incarcerated Offenders: Associations With Dissociative Experiences and Emotionality

PubMed Central

Garofalo, Carlo; Velotti, Patrizia; Crocamo, Cristina; Carrà, Giuseppe

2017-01-01

The present study examined the prevalence and correlates of clinical syndromes in a large group (N = 438) of incarcerated violent offenders, looking at differences between inmates with one and those with more than one clinical syndromes. More than a half of the sample (57%) reported clinically relevant symptoms for at least one clinical syndrome (n = 252), and the majority of them (38%) reported more syndromes in comorbidity (n = 169). Increased severity of clinical conditions (none, one, more than one syndrome) corresponded with significantly greater levels of personality disorder traits, psychological symptoms, dissociation, and negative emotionality, with large effect sizes. After controlling for co-occurrence of personality disorder traits and other symptoms, the presence of more than one comorbid syndrome significantly predicted unique variance in dissociation (positively) and positive emotionality (negatively). The presence of one clinical syndrome significantly and positively predicted negative emotionality. Findings support the possibility that the complexity, and not just the presence, of psychopathology could identify different groups of inmates. PMID:27913716

Single and Multiple Clinical Syndromes in Incarcerated Offenders: Associations With Dissociative Experiences and Emotionality.

PubMed

Garofalo, Carlo; Velotti, Patrizia; Crocamo, Cristina; Carrà, Giuseppe

2018-04-01

The present study examined the prevalence and correlates of clinical syndromes in a large group ( N = 438) of incarcerated violent offenders, looking at differences between inmates with one and those with more than one clinical syndromes. More than a half of the sample (57%) reported clinically relevant symptoms for at least one clinical syndrome ( n = 252), and the majority of them (38%) reported more syndromes in comorbidity ( n = 169). Increased severity of clinical conditions (none, one, more than one syndrome) corresponded with significantly greater levels of personality disorder traits, psychological symptoms, dissociation, and negative emotionality, with large effect sizes. After controlling for co-occurrence of personality disorder traits and other symptoms, the presence of more than one comorbid syndrome significantly predicted unique variance in dissociation (positively) and positive emotionality (negatively). The presence of one clinical syndrome significantly and positively predicted negative emotionality. Findings support the possibility that the complexity, and not just the presence, of psychopathology could identify different groups of inmates.

Divorce in families of children with Down syndrome: a population-based study.

PubMed

Urbano, Richard C; Hodapp, Robert M

2007-07-01

In this study, we examined the nature, timing, and correlates of divorce in families of children with Down syndrome (647), other birth defects (10,283) and no identified disability (361,154). Divorce rates among families of children with Down syndrome were lower than in the other two groups. When divorce did occur in the Down syndrome group, however, a higher proportion occurred within the first 2 years after the child's birth. Mothers and fathers of children with Down syndrome were much more likely to divorce if they were younger, had not graduated from high school, and if fathers were less educated and lived in a rural area. Few effects on divorce were noted for a variety of family structure variables.

ADHD and nicotine use in schizophrenia or Asperger syndrome: a controlled study.

PubMed

Hallerbäck, Maria Unenge; Lugnegård, Tove; Gillberg, Christopher

2014-07-01

To examine ADHD prevalence, rating scales, and relationship to nicotine use in adults with schizophrenia or Asperger syndrome. Ninety-five individuals, 41 with schizophrenia and 54 with Asperger syndrome, were included. Self-rating of adult ADHD symptoms with the Wender-Reimherr Adult Attention Deficit Diagnostic Rating Scale (WRAADDS), parent rating of proband's ADHD childhood and adult life symptoms using the Swanson, Nolan, and Pelham Questionnaire (SNAP), and report of clinical ADHD diagnosis were included as ADHD measures. Nicotine use data were compared with data from a population sample. In all, 10% of the schizophrenia group and 30% of the Asperger syndrome group had a clinical ADHD diagnosis. Nicotine dependency in the whole sample was closely linked to ADHD. The prevalence of comorbid ADHD was high in schizophrenia and Asperger syndrome. The WRAADDS self-rating scale for ADHD can be one useful tool for assessing comorbid ADHD in these patient groups. © 2012 SAGE Publications.

Brain perfusion abnormalities in Rett syndrome: a qualitative and quantitative SPET study with 99Tc(m)-ECD.

PubMed

Burroni, L; Aucone, A M; Volterrani, D; Hayek, Y; Bertelli, P; Vella, A; Zappella, M; Vattimo, A

1997-06-01

Rett syndrome is a progressive neurological paediatric disorder associated with severe mental deficiency, which affects only girls. The aim of this study was to determine if brain blood flow abnormalities detected with 99Tc(m)-ethyl-cysteinate-dimer (99Tc[m]-ECD) single photon emission tomography (SPET) can explain the clinical manifestation and progression of the disease. Qualitative and quantitative global and regional brain blood flow was evaluated in 12 girls with Rett syndrome and compared with an aged-matched reference group of children. In comparison with the reference group, SPET revealed a considerable global reduction in cerebral perfusion in the groups of girls with Rett syndrome. A large statistical difference was noted, which was more evident when comparing the control group with girls with stage IV Rett syndrome than girls with stage III Rett syndrome. The reduction in cerebral perfusion reflects functional disturbance in the brain of children with Rett syndrome. These data confirm that 99Tc(m)-ECD brain SPET is sensitive in detecting hypoperfused areas in girls with Rett syndrome that may be associated with brain atrophy, even when magnetic resonance imaging appears normal.

The prevalence of Usher syndrome and other retinal dystrophy-hearing impairment associations.

PubMed

Rosenberg, T; Haim, M; Hauch, A M; Parving, A

1997-05-01

The study was undertaken to procure population-based prevalence data on the various types of Usher syndrome and other retinal dystrophy-hearing impairment associations. The medical files on 646 patients with a panretinal pigmentary dystrophy aged 20-49 years derived from the Danish Retinitis Pigmentosa (RP) register were scrutinised. The data were supplemented by a prior investigation on hearing ability in a part of the study population. After exclusion of patients with possibly extrinsic causes of hearing impairments, 118 patients, including 89 cases of Usher syndrome were allocated to one of five clinically defined groups. We calculated the following prevalence rates: Usher syndrome type I: 1.5/100,000, Usher syndrome type II: 2.2/100,000, and Usher syndrome type III: 0.1/100,000 corresponding to a 2:3 ratio between Usher syndrome type I and II. The overall prevalence rate of Usher syndrome was estimated to 5/100,000 in the Danish population, devoid of genetic isolates. The material comprised 11 cases with retinal dystrophy, hearing impairment, and additional syndromic features. Finally, 18 subjects with various retinal dystrophy-hearing impairment associations without syndromic features were identified, corresponding to a prevalence rate of 0.8/100,000. This group had a significant overrepresentation of X-linked RP, including two persons harboring a mutation in the retinitis pigmentosa GTP-ase regulator (RPGR) gene.

Destination Memory in Korsakoff's Syndrome.

PubMed

El Haj, Mohamad; Kessels, Roy P C; Matton, Christian; Bacquet, Jean-Eudes; Urso, Laurent; Cool, Gaëlle; Guidez, Florence; Potier, Stéphanie; Nandrino, Jean-Louis; Antoine, Pascal

2016-06-01

Context memory, or the ability to remember the context in which an episodic event has occurred (e.g., where and when an event took place), has been found to be compromised in Korsakoff's syndrome. This study examined whether a similar deficit would be observed for destination memory, that is, the ability to remember to whom an information was previously transmitted. Patients with Korsakoff's syndrome and healthy controls were instructed to tell proverbs to pictures of celebrities. In a subsequent recognition test, they had to indicate to which celebrity they had previously told the proverbs. Participants also completed a neuropsychological battery including a binding task in which they were required to associate letters with their correspondent locations to assess context memory. Results showed worse binding and destination memory in patients with Korsakoff's syndrome than in controls. In the Korsakoff group, destination memory was significantly correlated with and predicted by performances on the binding task. The binding process seems to be impaired in Korsakoff's syndrome, a deficit that may account for the destination memory compromise in the syndrome, and probably, for the difficulty to retrieve the "where and when" of an encountered event. Copyright © 2016 by the Research Society on Alcoholism.