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Sample records for adult fanconi syndrome

  1. Fanconi syndrome

    Science.gov (United States)

    De Toni-Fanconi syndrome ... Fanconi syndrome can be caused by faulty genes, or it may result later in life due to kidney damage. Sometimes the cause of Fanconi syndrome is unknown. Common causes of Fanconi syndrome in ...

  2. Fanconi's syndrome and nephrogenic diabetes insipidus in an adult treated with ifosfamide.

    Science.gov (United States)

    Ingemi, Amanda I; Bota, Vasile M; Peguero, Anyeri; Charpentier, Margaret

    2012-01-01

    Fanconi's syndrome is a serious condition characterized by type II proximal renal tubular dysfunction, with urinary loss of glucose, amino acids, phosphate, bicarbonate, and potassium. Ifosfamide-induced Fanconi's syndrome is reported in about 1.4-5% of children being treated for solid tumors, yet only a few cases have been reported in adults. We describe a 54-year-old man who came to the hospital with symptoms of neutropenic fever 4 days after his fourth cycle of ifosfamide and doxorubicin treatment for recurrent sarcoma with metastases to the lung. During admission, he was noted to have severe renal tubular dysfunction; ifosfamide-induced nephrogenic diabetes insipidus and Fanconi's syndrome were suspected. He received supportive therapy that resulted in incomplete resolution of signs and symptoms. The patient was discharged after a 5-day hospital stay when his white blood cell count increased from 0.1-2.5 × 10(3) /mm(3) and his fever had resolved. Use of the Naranjo adverse drug reaction probability scale indicated a probable relationship (score of 7) between the patient's development of diabetes insipidus and Fanconi's syndrome and his use of ifosfamide. This dual diagnosis of diabetes insipidus and Fanconi's syndrome in an adult makes this case unusual, as well as therapeutically challenging. We conducted a review of the existing literature regarding ifosfamide-induced Fanconi's syndrome and describe the proposed mechanisms and therapeutic options. This case suggests that patients treated with ifosfamide should be monitored closely for renal function to identify, and perhaps prevent, these rare adverse events. Preliminary animal models show promise for adding N-acetylcysteine to ifosfamide treatment, but more research is necessary before using this drug as a therapeutic option. © 2012 Pharmacotherapy Publications, Inc.

  3. Fanconi Anemia and Laron Syndrome.

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    Castilla-Cortazar, Inma; de Ita, Julieta Rodriguez; Aguirre, Gabriel Amador; Castorena-Torres, Fabiola; Ortiz-Urbina, Jesús; García-Magariño, Mariano; de la Garza, Rocío García; Diaz Olachea, Carlos; Elizondo Leal, Martha Irma

    2017-05-01

    Fanconi anemia (FA) is a condition characterized by genetic instability and short stature, which is due to growth hormone (GH) deficiency in most cases. However, no apparent relationships have been identified between FA complementation group genes and GH. In this study, we thereby considered an association between FA and Laron syndrome (LS) (insulin-like growth factor 1 [IGF-1] deficiency). A 21-year-old female Mexican patient with a genetic diagnosis of FA was referred to our research department for an evaluation of her short stature. Upon admission to our facility, her phenotype led to a suspicion of LS; accordingly, serum levels of IGF-1 and IGF binding protein 3 were analyzed and a GH stimulation test was performed. In addition, we used a next-generation sequencing approach for a molecular evaluation of FA disease-causing mutations and genes involved in the GH-IGF signaling pathway. Tests revealed low levels of IGF-1 and IGF binding protein 3 that remained within normal ranges, as well as a lack of response to GH stimulation. Sequencing confirmed a defect in the GH receptor signaling pathway. To the best of our knowledge, this study is the first to suggest an association between FA and LS. We propose that IGF-1 administration might improve some FA complications and functions based upon IGF-1 beneficial actions observed in animal, cell and indirect clinical models: erythropoiesis modulation, immune function improvement and metabolic regulation. Copyright © 2017 The Authors. Published by Elsevier Inc. All rights reserved.

  4. Renal Fanconi syndrome with ultrastructural defects in lysinuric protein intolerance

    NARCIS (Netherlands)

    Benninga, M. A.; Lilien, M.; de Koning, T. J.; Duran, M.; Versteegh, F. G. A.; Goldschmeding, R.; Poll-The, B. T.

    2007-01-01

    Renal Fanconi syndrome developed rapidly in a 3-year-old Moroccan girl with established lysinuric protein intolerance. She was hospitalized because of lowered consciousness, uncoordinated movements and hepatosplenomegaly after a febrile period. Laboratory investigations revealed plasma ammonia 270

  5. Late Diagnosis of Fanconi-Bickel Syndrome

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    Nirupama Gupta MD

    2016-11-01

    Full Text Available Fanconi-Bickel syndrome (FBS, also known as glycogen storage disease type XI (GSD XI, is a rare autosomal recessive disorder of carbohydrate metabolism. It is caused by mutations in the gene SLC2A2 , which encodes for the facilitative glucose transporter GLUT2. Diagnosis of FBS is often delayed since the clinical features and laboratory markers often overlap with other disorders whose characteristic features include short stature, fasting hypoglycemia, postprandial hyperglycemia, hepatomegaly, hypophosphatemic rickets, and proximal renal tubular dysfunction. In this article, we present a case of FBS and its management in an African American female who initially presented with persistent proximal tubulopathy, hypercalciuria, and metabolic acidosis. We also include a recent literature review on FBS and discuss other metabolic disorders that should be considered in the differential diagnosis.

  6. Ifosfamide-induced Fanconi syndrome with diabetes insipidus.

    Science.gov (United States)

    Leem, Ah Young; Kim, Han Sang; Yoo, Byung Woo; Kang, Beo Deul; Kim, Min Hwan; Rha, Sun Young; Kim, Hyo Song

    2014-03-01

    Ifosfamide-induced Fanconi syndrome is a rare complication that typically occurs in young patients due to a cumulative dose of ifosfamide > 40-60 g/m(2), a reduction in kidney mass, or concurrent cisplatin treatment. It is usually characterized by severe and fatal progression accompanied by type II proximal renal tubular dysfunction, as evidenced by glycosuria, proteinuria, electrolyte loss, and metabolic acidosis. Diabetes insipidus is also a rare complication of ifosfamide-induced renal disease. We herein describe a case involving a 61-year-old man who developed ifosfamide-induced Fanconi syndrome accompanied by diabetes insipidus only a few days after the first round of chemotherapy. He had no known risk factors. In addition, we briefly review the mechanisms and possible therapeutic options for this condition based on other cases in the literature. Patients who receive ifosfamide must be closely monitored for renal impairment to avoid this rare but fatal complication.

  7. Fractures and Fanconi syndrome due to prolonged sodium valproate use.

    Science.gov (United States)

    Dhillon, N; Högler, W

    2011-06-01

    Sodium valproate (VPA) is commonly used to treat epilepsy in children. Renal dysfunction is a rare side eff ect but can present as tubulopathy such as Fanconi syndrome. We report on an 8-year-old disabled girl with myoclonic epilepsy who was referred for investigation of recurrent low impact fractures of the distal femur which were initially thought to be caused by her severe immobility. However, she was subsequently found to have hypophosphataemia secondary to Fanconi syndrome due to prolonged VPA use. After VPA withdrawal renal function and serum phosphate levels normalised and X-rays improved dramatically. The possibility of drug-induced osteoporosis and fractures should always be considered in disabled children, even in the presence of severe immobility.

  8. Transient renal Fanconi syndrome in a Chihuahua exposed to Chinese chicken jerky treats.

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    Hooijberg, E H; Furman, E; Leidinger, J; Brandstetter, D; Hochleithner, C; Sewell, A C; Leidinger, E; Giger, U

    2015-01-01

    Transient Fanconi syndrome without azotemia was diagnosed in a dog and was associated with ingestion of Chinese chicken jerky treats. Fanconi syndrome is a proximal renal tubular defect and a diagnosis was made based upon severe glucosuria with normoglycemia, and severe generalized aminoaciduria. The clinical signs of polyuria and polydipsia as well as the massive urinary metabolic abnormalities resolved after jerky treat withdrawal. While frequently seen in North America and Australia, this is the first report of jerky treat induced Fanconi syndrome in continental Europe. Clinicians should be aware of this potential intoxication and be vigilant for a history of jerky treat consumption in a dog with glucosuria.

  9. Fanconi's syndrome and subsequent progressive renal failure caused by a Chinese herb containing aristolochic acid.

    Science.gov (United States)

    Lee, Sangho; Lee, Taewon; Lee, Byungcheol; Choi, Hyuckjai; Yang, Munho; Ihm, Chun-Gyoo; Kim, Myungjae

    2004-06-01

    Chinese herb nephropathy contains a variety of clinical features of progressive renal failure (indicated by studies conducted in Belgium) to the variant type of Fanconi's syndrome. Fanconi's syndrome has mostly been reported in Asian countries, and is characterized by proximal tubular dysfunction and slower progression to end-stage renal disease (ESRD); it also often revealed a reversible clinical course. We describe a 43-year-old woman who presented with polyuria and polydipsia caused by Fanconi's syndrome. The cause of Fanconi's syndrome was not identified because the patient denied the intake of the Chinese herbal mixture at first. Fanconi's syndrome seemed to be reversible in its early stage, but it rapidly progressed to renal failure after 3 months, despite the interruption of Chinese mixture use. A renal biopsy revealed typical findings of aristolochic acid-induced nephropathy. Aristolochic acids were also detected in the Chinese herbs that were consumed. This case highlights the variety of the clinical spectrum of aristolochic acid induced nephropathy (AAN). We emphasize that AAN should be suspected in all patients with Fanconi's syndrome, even if patients deny the intake of any Chinese herbal preparation.

  10. Survival time, lifespan, and quality of life in dogs with idiopathic Fanconi syndrome.

    Science.gov (United States)

    Yearley, Jennifer H; Hancock, Dale D; Mealey, Katrina L

    2004-08-01

    To evaluate survival time of dogs with idiopathic Fanconi syndrome. Case series. 60 dogs with idiopathic Fanconi syndrome. Data were collected by means of questionnaires distributed to owners and veterinarians of dogs with idiopathic Fanconi syndrome and by examination of medical records when accessible. Questionnaires and records were reviewed for criteria used in diagnosis, treatments administered, survival time, and subjective owner perceptions regarding their dogs' general condition. 58 of the dogs were Basenjis. Fifty-seven dogs (95%) were reportedly managed by use of a single therapeutic regimen. Median survival time after diagnosis of Fanconi syndrome was 5.25 years; median estimated lifespan was calculated to be between 11.3 and 12.1 years. Owners of 28 of 29 (97%) dogs still alive at the time of the study subjectively assessed their dogs' general condition as good to excellent. Seizures or other neurologic dysfunction was reported for 11 dogs. Results suggest that expected lifespan for dogs with idiopathic Fanconi syndrome was not substantially reduced, compared with expected lifespan for unaffected dogs, and that affected dogs generally had a good to excellent quality of life, as subjectively assessed by their owners. What effect the treatment regimen had on survival time or lifespan could not be determined, given the small number of dogs managed with other methods. The high percentage of dogs with neurologic abnormalities was a concern, but whether this was related to Fanconi syndrome or represented a breed-related predisposition to neurologic disease could not be determined.

  11. Transient Neonatal Diabetes as a Presentation of Fanconi- Bickel Syndrome

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    Aria Setoodeh

    2012-12-01

    Full Text Available Fanconi- Bickel Syndrome (FBS is a rare type of glycogen storage disease (GSD Characterized by hepatomegaly, proximal renal tubular acidosis (RTA and marked growth retardation. We report a case of FBS presenting with diabetic ketoacidosis and transient neonatal diabetes. A female infant, product of consanguineous marriage presented with diabetic ketoacidosis at age 33 days, and was treated as neonatal diabetes with insulin. At age 14 months, insulin was discontinued. She presented with short stature, hepatomegaly, RTA and hypophosphatemic rickets at age 4 and (FBS was diagnosed. Diagnosis was confirmed by mutation analysis, showing mutation in SLC2 A2 gene. In conclusion,: neonatal diabetes or diabetic ketoacidosis may be the first presentation of infants with FBS.

  12. HEAVY-CHAIN DISEASES AND MYELOMA-ASSOCIATED FANCONI SYNDROME: AN UPDATE

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    Roberto Ria

    2018-01-01

    Full Text Available The heavy chain diseases (HCDs are rare B-cell malignancies characterized by the production of a monoclonal immunoglobulin heavy chain without an associated light chain. There are three types of HCD, defined by the class of immunoglobulin heavy chain produced: IgA (α-HCD, IgG (γ-HCD, and IgM (μ-HCD. Alpha-HCD is the most common and usually occurs as intestinal malabsorption in a young adult from a country of the Mediterranean area. Gamma- and μ-HCDs are more rare and associated to a B-cell non-Hodgkin lymphoma that produces an abnormal Ig heavy chain. These patients may occasionally be diagnosed with a monoclonal gammopathy of undetermined significance (MGUS. Fanconi syndrome, on the other hand, can be primary (inherited or secondary (acquired. The only exception to this rule is the idiopathic form. Adult acquired Fanconi syndrome can be a rare complication of a monoclonal gammopathy. At diagnosis, most patients have a MGUS or smoldering multiple myeloma, with renal failure and evidence of osteomalacia. During follow-up, patients can develop end-stage renal disease. Chemotherapy provides little benefit on renal function.

  13. Carnitine Deficiency and Oxidative Stress Provoke Cardiotoxicity in an Ifosfamide-Induced Fanconi Syndrome Rat Model

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    Mohamed M. Sayed-Ahmed

    2010-01-01

    Full Text Available In addition to hemorrhagic cystitis, Fanconi Syndrome is a serious clinical side effect during ifosfamide (IFO therapy. Fanconi syndrome is a generalized dysfunction of the proximal tubule which is characterized by excessive urinary excretion of glucose, phosphate, bicarbonate, amino acids and other solutes excreted by this segment of the nephron including L-carnitine. Carnitine is essential cofactor for β-oxidation of long-chain fatty acids in the myocardium. IFO therapy is associated with increased urinary carnitine excretion with subsequent secondary deficiency of the molecule. Cardiac abnormalities in IFO-treated cancer patients were reported as isolated clinical cases. This study examined whether carnitine deficiency and oxidative stress, secondary to Fanconi Syndrome, provoke IFO-induced cardiomyopathy as well as exploring if carnitine supplementation using Propionyl-L-carnitine (PLC could offer protection against this toxicity. In the current study, an animal model of carnitine deficiency was developed in rats by D-carnitine-mildronate treatment Adult male Wistar albino rats were assigned to one of six treatment groups: the first three groups were injected intraperitoneally with normal saline, D-carnitine (DC, 250 mg/kg/day combined with mildronate (MD, 200 mg/kg/day and PLC (250 mg/kg/day, respectively, for 10 successive days. The 4th, 5th and 6th groups were injected with the same doses of normal saline, DC-MD and PLC, respectively for 5 successive days before and 5 days concomitant with IFO (50 mg/kg/day. IFO significantly increased serum creatinine, blood urea nitrogen (BUN, urinary carnitine excretion and clearance, creatine phosphokinase isoenzyme (CK-MB, lactate dehydrogenase (LDH, intramitochondrial acetyl-CoA/CoA-SH and thiobarbituric acid reactive substances (TBARS in cardiac tissues and significantly decreased adenosine triphosphate (ATP and total carnitine and reduced glutathione (GSH content in cardiac tissues. In carnitine

  14. Co-Existence of Tuberous Sclerosis and the Fanconi Syndrome in Two Saudi Male Siblings: Report on Two Cases

    International Nuclear Information System (INIS)

    Al-Hwiesh, Abdulla K.; Al-Mueilo, Samir H.; Saeed, Ibrahim; Barak, Infal H.; Al-Muhanna, Fahd A.

    2005-01-01

    In this report, we present two cases of familial tuberous sclerosis co-existing with the Fanconi Syndrome. Both cases presented with history of failure to thrive and mental retardation associated with hypokalemic metabolic acidosis. To our knowledge, the association between tuberous sclerosis and the Fanconi Syndrome has not been reported previously. (author)

  15. Fanconi syndrome and CKD in a patient with paroxysmal nocturnal hemoglobinuria and hemosiderosis.

    Science.gov (United States)

    Hsiao, Po-Jen; Wang, Shou-Chieh; Wen, Mei-Chin; Diang, Liang-Kuang; Lin, Shih-Hua

    2010-01-01

    Fanconi syndrome and chronic kidney disease associated with paroxysmal nocturnal hemoglobinuria is rarely reported. We describe a 51-year-old woman with glomerular filtration rate decrease and hypokalemia, glucosuria, and proteinuria during a 4-year period. Paroxysmal nocturnal hemoglobinuria was diagnosed 17 years earlier, and she has received multiple blood transfusions because of hemolytic episodes during the last 5 years. Deteriorating kidney function and persistent Fanconi syndrome were accompanied by a progressive increase in serum ferritin levels. Laboratory studies showed proximal renal tubular acidosis, hypophosphotemic hyperphosphaturia, normoglycemic glucosuria, and aminoaciduria. Serologic testing, tumor markers, Bence-Jones protein, and heavy-metal screening results were negative. Abdominal magnetic resonance imaging showed characteristic features of iron deposition in the bilateral renal cortices. Kidney biopsy showed chronic interstitial nephritis with prominent hemosiderin deposition in the proximal tubules. With potassium citrate, calcitriol, and deferoxamine therapy, Fanconi syndrome persisted, but kidney function was stable. Renal hemosiderosis secondary to both chronic repetitive hemolytic episodes and transfusion-related iron overload in patients with paroxysmal nocturnal hemoglobinuria can lead to Fanconi syndrome and chronic kidney disease. Copyright 2009 National Kidney Foundation, Inc. Published by Elsevier Inc. All rights reserved.

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

    DEFF Research Database (Denmark)

    Suhasini, Avvaru N; Rawtani, Nina A; Wu, Yuliang

    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...

  17. de Toni-Fanconi-Debré syndrome with Leigh syndrome revealing severe muscle cytochrome c oxidase deficiency

    NARCIS (Netherlands)

    Ogier, H.; Lombes, A.; Scholte, H. R.; Poll-The, B. T.; Fardeau, M.; Alcardi, J.; Vignes, B.; Niaudet, P.; Saudubray, J. M.

    1988-01-01

    We describe a patient with severe muscle cytochrome c oxidase deficiency who had de Toni-Fanconi-Debré syndrome and acute neurologic deterioration resembling Leigh syndrome, without clear evidence of muscle abnormality. Metabolic investigations revealed elevated cerebrospinal fluid lactate values

  18. Modern Views on de Toni — Debre — Fanconi Syndrome: the Literature Data and Case Report

    Directory of Open Access Journals (Sweden)

    I.S. Lembryk

    2013-10-01

    Full Text Available Introduction. In the article features of clinical course of de Toni — Debre — Fanconi disease (syndrome in children of different age, depending on form of the disease are represented. The objective of investigation was to study clinical peculiarities of the syndrome in childhood. Materials and Methods. Data of foreign literature on this problem for the last 5–10 years are shown. Case report of the disease in 16-year-old patient is described. Results and Discussion. It was proved that this syndrome has autosomal-recessive pattern of inheritance. It is rare in population, and injures mostly bone tissues, kidneys. This condition, in turn, has significant influence at the development and height of the child in general. Clinical features of the syndrome, besides signs of rickets, include: polyuria, polydypsia, growth inhibition, and different degrees of dehydration. Laboratory findings in children with de Toni — Debre — Fanconi syndrome demonstrates presence of proteinuria, hypophosphatemia, hypokalemia and metabolic acidosis. Treatment involves replacement therapy depending on the metabolic imbalance, as well as administration of diuretics and vitamin D metabolites. In our case, the patient received an adequate dose of vitamin D for therapeutic purposes, metabolic products, as well as a course of massage and physical therapy. Conclusions. De Toni — Debre — Fanconi syndrome is a rare enzymopathy, mainly affecting bone, spine, kidneys. Knowledge of the characteristics of the disease in different age periods greatly help the clinician in establishing diagnosis, involvement of highly specialized doctor, developing an adequate treatment strategy.

  19. Downregulation of Oxidative and Nitrosative Apoptotic Signaling by L-Carnitine in Ifosfamide-Induced Fanconi Syndrome Rat Model

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    Mohamed M. Sayed-Ahmed

    2012-01-01

    Full Text Available It is well documented that ifosfamide (IFO therapy is associated with sever nephropathy in the form of Fanconi syndrome. Although oxidative stress has been reported as a major player in IFO-induced Fanconi syndrome, no mechanism for this effect has been ascertained. Therefore, this study has been initiated to investigate, on gene expression level, the mechanism of IFO-induce nephrotoxicity and those whereby carnitine supplementation attenuates this serious side effect of IFO. To achieve the ultimate goals of this study, adult male rats were assigned to one of four treatment groups, namely, control, L-carnitine, IFO, and IFO plus L-carnitine. Administration of IFO for 5 days significantly increased serum creatinine, blood urea nitrogen (BUN, and total nitrate/nitrite (NOx production in kidney tissues. In addition, IFO significantly increased mRNA expression of inducible nitric oxide synthase (iNOS, caspase-9, and caspase-3 and significantly decreased expression of glutathione peroxides (GPx, catalase (CAT, and Bcl2 in kidney tissues. Administration of L-carnitine to IFO-treated rats resulted in a complete reversal of the all biochemical and gene expression changes, induced by IFO, to the control values. Data from this study suggest that L-carnitine prevents the development of IFO-induced nephrotoxicity via downregulation of oxidative and nitrosative apoptotic signaling in kidney tissues.

  20. Downregulation of oxidative and nitrosative apoptotic signaling by L-carnitine in Ifosfamide-induced Fanconi syndrome rat model.

    Science.gov (United States)

    Sayed-Ahmed, Mohamed M; Hafez, Mohamed M; Aldelemy, Meshan Lafi; Aleisa, Abdulaziz M; Al-Rejaie, Salem S; Al-Hosaini, Khaled A; Al-Harbi, Naif O; Al-Harbi, Mohamed M; Al-Shabanah, Othman A

    2012-01-01

    It is well documented that ifosfamide (IFO) therapy is associated with sever nephropathy in the form of Fanconi syndrome. Although oxidative stress has been reported as a major player in IFO-induced Fanconi syndrome, no mechanism for this effect has been ascertained. Therefore, this study has been initiated to investigate, on gene expression level, the mechanism of IFO-induce nephrotoxicity and those whereby carnitine supplementation attenuates this serious side effect of IFO. To achieve the ultimate goals of this study, adult male rats were assigned to one of four treatment groups, namely, control, L-carnitine, IFO, and IFO plus L-carnitine. Administration of IFO for 5 days significantly increased serum creatinine, blood urea nitrogen (BUN), and total nitrate/nitrite (NOx) production in kidney tissues. In addition, IFO significantly increased mRNA expression of inducible nitric oxide synthase (iNOS), caspase-9, and caspase-3 and significantly decreased expression of glutathione peroxides (GPx), catalase (CAT), and Bcl2 in kidney tissues. Administration of L-carnitine to IFO-treated rats resulted in a complete reversal of the all biochemical and gene expression changes, induced by IFO, to the control values. Data from this study suggest that L-carnitine prevents the development of IFO-induced nephrotoxicity via downregulation of oxidative and nitrosative apoptotic signaling in kidney tissues.

  1. Early Onset of Tenofovir-Related Fanconi Syndrome in a Child with Acute Hepatitis B: A Case Report and Systematic Review of Literature

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    Renato Pascale

    2017-01-01

    Full Text Available Tenofovir disoproxil fumarate- (TDF- related nephropathy is known to be a long-term complication of this drug, more commonly observed in HIV-infected patients, but occurring also in hepatitis B. Cases of Fanconi Syndrome associated with TDF have been reported in adult patients, usually as a long-term complication of chronic hepatitis B treatment. We present here a case of a 12-year-old male developing a severe acute HBV hepatitis treated with TDF. The patient achieved an early virological and biochemical response, but with a subsequent onset of proximal renal tubular damage, consistent with Fanconi Syndrome. After withdrawing this drug and switching to Entecavir, a complete resolution of tubulopathy and, after 6 months, a complete HBsAg seroconversion occurred. To our knowledge, this is the first report of an early renal injury due to TDF-therapy in a pediatric patient treated for acute hepatitis B.

  2. Diagnostic Overlap between Fanconi Anemia and the Cohesinopathies: Roberts Syndrome and Warsaw Breakage Syndrome

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    Petra van der Lelij

    2010-01-01

    Full Text Available Fanconi anemia (FA is a recessively inherited disease characterized by multiple symptoms including growth retardation, skeletal abnormalities, and bone marrow failure. The FA diagnosis is complicated due to the fact that the clinical manifestations are both diverse and variable. A chromosomal breakage test using a DNA cross-linking agent, in which cells from an FA patient typically exhibit an extraordinarily sensitive response, has been considered the gold standard for the ultimate diagnosis of FA. In the majority of FA patients the test results are unambiguous, although in some cases the presence of hematopoietic mosaicism may complicate interpretation of the data. However, some diagnostic overlap with other syndromes has previously been noted in cases with Nijmegen breakage syndrome. Here we present results showing that misdiagnosis may also occur with patients suffering from two of the three currently known cohesinopathies, that is, Roberts syndrome (RBS and Warsaw breakage syndrome (WABS. This complication may be avoided by scoring metaphase chromosomes—in addition to chromosomal breakage—for spontaneously occurring premature centromere division, which is characteristic for RBS and WABS, but not for FA.

  3. Nephrogenic diabetes insipidus with idiopathic Fanconi's syndrome in a child who presented as vitamin D resistant rickets.

    Science.gov (United States)

    Patra, Soumya; Nadri, Gulnaz; Chowdhary, Harish; Pemde, Harish K; Singh, Varinder; Chandra, Jagdish

    2011-10-01

    Fanconi's syndrome is a complex of multiple tubular dysfunctions of proximal tubular cells occurring alone or in association with a variety of inherited (primary) or acquired (secondary) disorders. It is characterized by aminoaciduria, normoglycaemic glycosuria, tubular proteinuria without hematuria, metabolic acidosis without anion gap and excessive urinary excretion of phosphorous, calcium, uric acid, bicarbonate, sodium, potassium, and magnesium. Whereas diabetes insipidus is a disease of collecting tubules and child mainly presents with dehydration and hypernatremia. Though all the cases published till date were secondary to drugs, myeloma, hematological disorders, etc., we are reporting the first case of idiopathic Fanconi's syndrome along with nephrogenic diabetes insipidus in a child who presented to us as resistant rickets. Medline search did not reveal any case of nephrogenic diabetes insipidus associated with idiopathic Fanconi syndrome. We hypothesized that the NDI may be due to of severe hypokalemia induced tubular dysfunction.

  4. Oral carnitine therapy in children with cystinosis and renal Fanconi syndrome

    International Nuclear Information System (INIS)

    Gahl, W.A.; Bernardini, I.; Dalakas, M.; Rizzo, W.B.; Harper, G.S.; Hoeg, J.M.; Hurko, O.; Bernar, J.

    1988-01-01

    11 children with either cystinosis or Lowe's syndrome had a reduced content of plasma and muscle carnitine due to renal Fanconi syndrome. After treatment with oral L-carnitine, 100 mg/kg per d divided every 6 h, plasma carnitine concentrations became normal in all subjects within 2 d. Initial plasma free fatty acid concentrations, inversely related to free carnitine concentrations, were reduced after 7-20 mo of carnitine therapy. Muscle lipid accumulation, which varied directly with duration of carnitine deficiency (r = 0.73), improved significantly in three of seven rebiopsied patients after carnitine therapy. One Lowe's syndrome patient achieved a normal muscle carnitine level after therapy. Muscle carnitine levels remained low in all cystinosis patients, even though cystinotic muscle cells in culture took up L-[ 3 H]carnitine normally. The half-life of plasma carnitine for cystinotic children given a single oral dose approximated 6.3 h; 14% of ingested L-carnitine was excreted within 24 h. Studies in a uremic patient with cystinosis showed that her plasma carnitine was in equilibrium with some larger compartment and may have been maintained by release of carnitine from the muscle during dialysis. Because oral L-carnitine corrects plasma carnitine deficiency, lowers plasma free fatty acid concentrations, and reverses muscle lipid accumulation in some patients, its use as therapy in renal Fanconi syndrome should be considered. However, its efficacy in restoring muscle carnitine to normal, and the optimal dosage regimen, have yet to be determined

  5. De Toni-Debré-Fanconi syndrome in a patient with Kearns-Sayre syndrome: a case report

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    Mihai Cristina

    2009-11-01

    Full Text Available Abstract Introduction Kearns-Sayre syndrome is a mitochondrial myopathy that demonstrates chronic progressive ophthalmoplegia with onset before the age of 20 and pigmentary degeneration of the retina. Case presentation We report the case of an 18-year-old Romanian man with short stature, external ophthalmoplegia, palpebral ptosis, myopathy, sensorineural hearing impairment, cerebellar ataxia, cardiac conduction defect, diabetes mellitus, hypoparathyroidism and hyperaldosteronism. The patient's evolution showed progressive insufficiency of the renal tubule: hyperphosphaturia, hyperaminoaciduria and, later, glucosuria (de Toni-Debré-Fanconi syndrome, a syndrome, to date, rarely diagnosed in association with complete Kearns-Sayre syndrome. The final diagnosis was delayed for several years and was only established when he developed diabetes mellitus. Southern blot analysis and polymerase chain reaction amplification revealed the presence of a deletion in the mitochondrial DNA. Conclusion Despite the rarity of this syndrome, the diagnosis was easily made due to the presence of the classic triad: external ophthalmoplegia, pigmentary retinopathy and onset in a patient younger than 20 years old. In our opinion, a search for Kearns-Sayre syndrome in all patients with de Toni-Debré-Fanconi syndrome is a valuable medical routine.

  6. A multiprotein nuclear complex connects Fanconi anemia and Bloom syndrome.

    NARCIS (Netherlands)

    Meetei, AR; Sechi, S; Wallisch, M; Yang, D; Young, MK; Joenje, H.; Hoatlin, M.E.

    2003-01-01

    Bloom syndrome (BS) is a genetic disorder associated with dwarfism, immunodeficiency, reduced fertility, and an elevated risk of cancer. To investigate the mechanism of this disease, we isolated from human HeLa extracts three complexes containing the helicase defective in BS, BLM. Interestingly, one

  7. Fanconi Syndrome Secondary to Deferasirox in Diamond-Blackfan Anemia: Case Series and Recommendations for Early Diagnosis.

    Science.gov (United States)

    Papneja, Koyelle; Bhatt, Mihir D; Kirby-Allen, Melanie; Arora, Steven; Wiernikowski, John T; Athale, Uma H

    2016-08-01

    Deferasirox is an oral iron chelator used to treat patients with transfusion-related iron overload. We report, from two institutions, two children with Diamond-Blackfan anemia who developed Fanconi syndrome secondary to deferasirox administration, along with a review of the literature. The current recommendation for the laboratory monitoring of patients receiving deferasirox does not include serum electrolytes or urine analysis. Thus, despite routine clinic visits and bloodwork, these two patients presented with life-threatening electrolyte abnormalities requiring hospitalization. Hence, we propose the inclusion of serum electrolytes and urine analysis as part of routine monitoring to facilitate the early diagnosis of Fanconi syndrome in the context of high doses of deferasirox therapy. © 2016 Wiley Periodicals, Inc.

  8. Transfusion-dependent thalassaemic patients with renal Fanconi syndrome due to deferasirox use.

    Science.gov (United States)

    Chuang, Gwo-Tsann; Tsai, I-Jung; Tsau, Yong-Kwei; Lu, Meng-Yao

    2015-12-01

    Deferasirox is a new oral iron chelating agent with several cases reporting renal adverse events in recent years. Our aim was to identify the incidence of deferasirox-related Fanconi syndrome (FS) and its risk factors. All transfusion-dependent thalassaemic patients who received deferasirox at the outpatient department of the National Taiwan University Hospital (NTUH) from January 2006 to February 2014 were evaluated. This cohort study included 57 patients, and mean age of deferasirox initiation was 18.2 ± 7.7 years. After 6.9 ± 1.8 years of follow-up, 5 in 57 (8.8%) thalassaemic patients had FS. Age of starting deferasirox negatively correlated with incidence of FS (correlation coefficient -0.892, P = 0.008). Other factors were not significantly associated with FS. Serum creatinine level at the start of deferasirox compared to at the end of study or onset of FS did not show significant change (P = 0.277). All the deferasirox-related FS manifested with proximal renal tubular acidosis and hypophosphataemia, which needed specific treatment or withdrawal of deferasirox use. We recommend that children, especially of young age, who regularly use deferasirox should undergo routine urinalysis and blood testing for early detection of FS. © 2015 Asian Pacific Society of Nephrology.

  9. Idiopathic Fanconi's syndrome with nephrogenic diabetes insipidus in a child who presented as vitamin D resistant rickets--a case report and review of literature.

    Science.gov (United States)

    Patra, Soumya; Nadri, Gulnaz; Chowdhary, Harish; Pemde, Harish K; Singh, Varinder; Chandra, Jagdish

    2011-01-01

    Fanconi's syndrome is a complex of multiple tubular dysfunctions of proximal tubular cells occurring alone or in association with a variety of inherited (primary) or acquired (secondary) disorders. It is characterized by aminoaciduria, normoglycemic glycosuria, tubular proteinuria without hematuria, metabolic acidosis without anion gap and excessive urinary excretion of phosphorous, calcium, uric acid, bicarbonate, sodium, potassium and magnesium. Diabetes insipidus is a disease of collecting tubules and a child mainly presents with dehydration and hypernatremia. We report the first case of idiopathic Fanconi's syndrome along with nephrogenic diabetes insipidus (NDI) in a child who presented to us as resistant rickets. Medline search did not reveal any case of nephrogenic diabetes insipidus associated with idiopathic Fanconi's syndrome. We hypothesized that the NDI may be due to severe hypokalemia induced tubular dysfunction. The child was treated for hypophosphatemic rickets with severe metabolic acidosis and the treatment for NDI was also given. Now he has healed rickets and normal blood pH, sodium and osmolarity.

  10. A case report of nephrogenic diabetes insipidus with idiopathic Fanconi syndrome in a child who presented with vitamin D resistant rickets.

    Science.gov (United States)

    Patra, Soumya; Nadri, Gulnaz; Chowdhary, Harish; Pemde, Harish K; Singh, Varinder; Chandra, Jagdish

    2014-05-01

    Fanconi syndrome is a complex of multiple tubular dysfunctions of proximal tubular cells, occurring alone or in association with a variety of inherited (primary) or acquired (secondary) disorders. It is characterized by aminoaciduria, normoglycemic glycosuria, tubular proteinuria without hematuria, metabolic acidosis without anion gap and excessive urinary excretion of phosphorous, calcium, uric acid, bicarbonate, sodium, potassium and magnesium. Diabetes insipidus is a disease of collecting tubules and children mainly present with dehydration and hypernatremia. We are reporting the first case of idiopathic Fanconi's syndrome along with nephrogenic diabetes insipidus in a child who presented to us with vitamin D resistant rickets. Medline search did not reveal any case of nephrogenic diabetes insipidus (NDI) associated with idiopathic Fanconi syndrome. We hypothesized that the NDI may be due to to severe hypokalemia induced tubular dysfunction.

  11. Induction of an experimental Fanconi syndrome in mice: Its effect on the glomerular filtration function studied by 99mTc-DTPA

    International Nuclear Information System (INIS)

    Sawas-Dimopoulou, C.; Sigalas, I.; Margaritis, L.

    1996-01-01

    An experimental mice model of maleate (MAL)-induced Fanconi syndrome has been used to test 99m Tc-DTPA ability to detect hampered glomerular filtration rate (GFR) early in drug-induced Fanconi syndrome. In fact, declining GFR has been reported both in idiopathic and acquired Fanconi syndrome. The above MAL model shows urine biochemistry changes similar to those reported in patients suffering from Fanconi syndrome. Moreover, biodistribution study and whole-body autoradiographies performed after IV injection of 99m Tc-DTPA in MAL and control mice show significantly delayed pharmacokinetics of the above radiopharmaceutical in a MAL dose-dependent effect. After administration of a MAL dose of 6 mM/kg BW, the 5-min biodistribution of 99m Tc-DTPA, a radiopharmaceutical freely excreted by glomerular filtration, is significantly changed in all organs. In blood of MAL mice, 27.62 ± 2.86% of the injected dose is still circulating compared to 13.67 ± 1.22% of the injected dose in control mice, and only 1.37 ± 0.31% of the injected dose has been excreted in urine of MAL mice compared to 24.66 ± 4.12% of the injected dose in urine of control mice. The obtained results suggest that 99m Tc-DTPA may be efficient both in the early detection of abnormal GFR in acquired Fanconi syndrome after application of a nephrotoxic treatment, and in the follow-up of patients in recovery phase after discontinuation of the therapy

  12. Living related liver transplantation in an adult patient with hepatocellular adenoma and carcinoma 13 years after bone marrow transplantation for Fanconi anemia : A case report

    NARCIS (Netherlands)

    Colle, Isabelle; Laureys, Geneviève; Raevens, Sarah; Libbrecht, Louis; Leroy, Juliaan G; Reyntjens, Koen; Geerts, Anja; Rogiers, Xavier; Troisi, Roberto I; Hoehn, Holger; Schindler, Detlev; Hanenberg, Helmut; De Wilde, Vincent; Van Vlierberghe, Hans

    Fanconi anemia (FA) is an inherited bone marrow failure syndrome due to defective DNA inter-strand cross-link repair. Hematopoietic stem cell transplantation (HSCT) is curative for pancytopenia, but may not prevent the development of non-hematological malignancies. We describe a 26-year-old male

  13. Fanconi Anemia Research Fund

    Science.gov (United States)

    ... Support Publications Fundraising News What is the Fanconi Anemia Research Fund? Fanconi anemia is an inherited disease that can lead to ... population. Lynn and Dave Frohnmayer started the Fanconi Anemia Research Fund, in 1989 to find effective treatments ...

  14. A case of Fanconi syndrome accompanied by crystal depositions in tubular cells in a patient with multiple myeloma

    Directory of Open Access Journals (Sweden)

    Do Hee Kim

    2014-06-01

    Full Text Available Fanconi syndrome (FS is a rare condition that is characterized by defects in the proximal tubular function. A 48-year-old woman was admitted for evaluation of proteinuria. The patient showed normal anion gap acidosis, normoglycemic glycosuria, hypophosphatemia, and hypouricemia. Thus, her condition was compatible with FS. The M peak was found behind the beta globulin region in urine protein electrophoresis. Upon bone marrow examination, we found that 24% of cells were CD138+ plasma cells with kappa restriction. From a kidney biopsy, we found crystalline inclusions within proximal tubular epithelial cells. Thereafter, she was diagnosed with FS accompanied by multiple myeloma. The patient received chemotherapy and autologous stem cell transplantation, and obtained very good partial hematologic response. However, proximal tubular dysfunction was persistent until 1 year after autologous stem cell transplantation. In short, we report a case of FS accompanied by multiple myeloma, demonstrating crystalline inclusion in proximal tubular cells on kidney biopsy.

  15. Acadian variant of Fanconi syndrome is caused by mitochondrial respiratory chain complex I deficiency due to a non-coding mutation in complex I assembly factor NDUFAF6

    Czech Academy of Sciences Publication Activity Database

    Hartmannová, H.; Piherová, L.; Tauchmannová, Kateřina; Kidd, K.; Acott, P. D.; Crocker, J. F. S.; Oussedik, Y.; Mallet, M.; Hodaňová, K.; Stránecký, V.; Přistoupilová, A.; Barešová, V.; Jedličková, I.; Živná, M.; Sovová, J.; Hůlková, H.; Robins, V.; Vrbacký, Marek; Pecina, Petr; Kaplanová, Vilma; Houštěk, Josef; Mráček, Tomáš; Thibeault, Y.; Bleyer, A. J.; Kmoch, S.

    2016-01-01

    Roč. 25, č. 18 (2016), s. 4062-4079 ISSN 0964-6906 R&D Projects: GA ČR(CZ) GB14-36804G; GA MŠk(CZ) LL1204 Institutional support: RVO:67985823 Keywords : Acadian variant of Fanconi syndrome * mitochondrial complex I deficiency * NDUFAF6 * C8ORF38 * non-coding mutation * alternative splicing variant * protein isoforms Subject RIV: EB - Genetics ; Molecular Biology Impact factor: 5.340, year: 2016

  16. Analysis of molecular forms of urine Retinol-Binding Protein in Fanconi Syndrome and design of an accurate immunoassay.

    Science.gov (United States)

    Burling, Keith A; Cutillas, Pedro R; Church, David; Lapsley, Marta; Norden, Anthony G W

    2012-02-18

    Retinol-Binding Protein in urine (uRBP), a biomarker for the proximal renal tubular disease of congenital and acquired Fanconi Syndrome (FS) occurs in multiple forms. However these have not had quantitative mass spectrometric (MS) analysis, nor is there a validated assay for defined molecular species of uRBP with linearity on sample dilution. A 'Top-down' MS approach identified distinct forms of uRBP differing by only one amino acid. Based on this, we designed a dual-monoclonal antibody-based fluorescence immunoassay calibrated with intact plasma RBP4. LC-MS showed that uRBP in FS (one Dent disease urine) comprised intact plasma RBP4 and C-terminal-truncated RBP4, desL-RBP4 and desLL-RBP4 in molar ratio 2:2:1. DELFIA® assay calibrated with plasma RBP4, formulated with two monoclonal antibodies (HyTest, Finland), mAb48 for capture and biotinylated-mAb42 for detection, provided good sensitivity (1 μg/L), working range>500 μg/L and good linearity on sample dilution. The three predominant forms of uRBP were equipotent over the assay working range. uRBP reference range was <3 μg/mmol creatinine and FS patients had concentrations of 1000-5000 μg/mmol creatinine. Using 'Top-down' MS analysis of uRBP we devised an accurate, linear, fluorescence immunoassay with defined RBP molecular targets optimal for uRBP measurement. Discrimination of elevated uRBP from the upper limit of normal was some 10-fold greater than previous assays. Copyright © 2011 Elsevier B.V. All rights reserved.

  17. X-linked inheritance of Fanconi anemia complementation group B.

    NARCIS (Netherlands)

    Meetei, AR; Levitus, M.; Xue, Y; Medhurst, A.L. dr.; Zwaan, M.; Ling, C; Rooimans, M.A.; Bier, P; Hoatlin, M.; Pals, G.; Winter, de J.P.; Joenje, H.

    2004-01-01

    Fanconi anemia is an autosomal recessive syndrome characterized by diverse clinical symptoms, hypersensitivity to DNA crosslinking agents, chromosomal instability and susceptibility to cancer. Fanconi anemia has at least 11 complementation groups (A, B, C, D1, D2, E, F, G, I, J, L); the genes

  18. Genetics Home Reference: Fanconi anemia

    Science.gov (United States)

    ... Facebook Twitter Home Health Conditions Fanconi anemia Fanconi anemia Printable PDF Open All Close All Enable Javascript to view the expand/collapse boxes. Description Fanconi anemia is a condition that affects many parts of ...

  19. Adult onset Leigh syndrome

    Directory of Open Access Journals (Sweden)

    Pandit Lekha

    2007-01-01

    Full Text Available Leigh syndrome is a rare progressive mitochondrial disorder of oxidative metabolism. Though it has been reported in infancy and childhood, it is rarely described in adults. The authors describe a patient who had clinical and magnetic resonance imaging features diagnostic of Leigh syndrome, with supportive biochemical and muscle histochemistry evidence.

  20. Metformin Therapy for Fanconis Anemia

    Science.gov (United States)

    2017-08-01

    AWARD NUMBER: W81XWH-16-1-0300 TITLE: Metformin Therapy for Fanconis Anemia PRINCIPAL INVESTIGATOR: Markus Grompe CONTRACTING ORGANIZATION... Anemia 5a. CONTRACT NUMBER 5b. GRANT NUMBER W81XWH-16-1-0300 5c. PROGRAM ELEMENT NUMBER 6. AUTHOR(S) Markus Grompe 5d. PROJECT NUMBER 5e. TASK...298 (Rev. 8-98) Prescribed by ANSI Std. Z39.18 This award pertains to the treatment of the inherited bone marrow failure syndrome Fanconi’s Anemia

  1. Patient with Fanconi Syndrome (FS) and retinitis pigmentosa (RP) caused by a deletion and duplication of mitochondrial DNA (mtDNA).

    Science.gov (United States)

    Pitchon, E M; Cachat, F; Jacquemont, S; Hinard, C; Borruat, F-X; Schorderet, D F; Morris, M A; Munier, F L

    2007-04-01

    We report a patient with a highly unusual presentation of a mitochondrial disorder. An 8-year old girl presented with muscular cramps as well as height and weight deceleration. Investigations revealed lactic acidosis, electrolytic imbalance and urinary loss of glucose and electrolytes secondary to proximal renal tubulopathy consistent with Fanconi syndrome (FS). Ophthalmic examination revealed asymptomatic retinitis pigmentosa (RP) with no other ocular manifestations. A mitochondriopathy was suspected and genetic analysis performed. Southern blotting documented a heteroplasmic mutation of mtDNA with deletion/duplication. Three discrete mitochondrial genomes were detected: normal; deletion of 6.7 kb and a deletion/duplication consisting of 1 normal and 1 deleted genome. The relative proportions varied considerably between tissues. The association of FS and RP combines features of Kearns-Sayre syndrome and Pearson marrow-pancreas syndrome, without being typical of either. This highly unusual clinical presentation emphasises the need for systemic investigation of patients with FS and further underlines the importance of mtDNA analysis in patients with unexpected associations of affected tissues.

  2. Fanconi anemia and radiation

    Energy Technology Data Exchange (ETDEWEB)

    Nakamura, Asako; Komatsu, Kenshi [Hiroshima Univ. (Japan). Research Inst. for Nuclear Medicine and Biology

    1999-09-01

    Aplastic Fanconi anemia (FA) accompanying malformation was firstly reported in 1927. This review concerns the recent findings on FA. FA belongs to the chromosomal instability syndrome and its detailed molecular mechanism is still unknown. The disease has been defined to be highly sensitive to radiation, however, which is quite an important problem since irradiation with a large dose of radiation is required before its radical treatment (bone marrow transplantation). FA cells are also mitomycin C-sensitive and FA patients are said to be the mosaic of the sensitive and normal cells. This enables to classify FA into 8 types of A-H groups, whose genotypes (FAA-FAH, FANCA-FANCH) are becoming clear. However, the intracellular function of the FANC-expressed protein, although known to form a big complex, is not elucidated yet. There is an abnormality in DNA processing such as re-linkage of the double strand-broken DNA in FA cells. FA causal gene FANCG is found identical to XRCC9 which is associated to high sensitivity to radiation. Analysis of FANC genes will provide useful findings on molecular mechanism of DNA-repair. (K.H.)

  3. Deletion of the mitochondrial DNA in a case of de Toni-Debré-Fanconi syndrome and Pearson syndrome.

    Science.gov (United States)

    Niaudet, P; Heidet, L; Munnich, A; Schmitz, J; Bouissou, F; Gubler, M C; Rötig, A

    1994-04-01

    We report a patient with Pearson syndrome with failure to thrive, exocrine pancreas insufficiency, growth hormone deficiency and severe tubular dysfunction. The patient had no signs of liver involvement. Normal respiratory chain enzyme activity was found in the lymphocytes, but a mitochondrial DNA deletion was demonstrated in lymphocytes and in the kidney. Polymerase chain reaction amplification and sequence analysis revealed the presence of the 4,977 base pair "common" deletion in the mitochondrial genome. Our findings support the view that tubulopathies of unknown origin may be related to mitochondrial respiratory chain deficiency.

  4. Mouse models of Fanconi anemia

    International Nuclear Information System (INIS)

    Parmar, Kalindi; D'Andrea, Alan; Niedernhofer, Laura J.

    2009-01-01

    Fanconi anemia is a rare inherited disease characterized by congenital anomalies, growth retardation, aplastic anemia and an increased risk of acute myeloid leukemia and squamous cell carcinomas. The disease is caused by mutation in genes encoding proteins required for the Fanconi anemia pathway, a response mechanism to replicative stress, including that caused by genotoxins that cause DNA interstrand crosslinks. Defects in the Fanconi anemia pathway lead to genomic instability and apoptosis of proliferating cells. To date, 13 complementation groups of Fanconi anemia were identified. Five of these genes have been deleted or mutated in the mouse, as well as a sixth key regulatory gene, to create mouse models of Fanconi anemia. This review summarizes the phenotype of each of the Fanconi anemia mouse models and highlights how genetic and interventional studies using the strains have yielded novel insight into therapeutic strategies for Fanconi anemia and into how the Fanconi anemia pathway protects against genomic instability.

  5. Anesthesia for a patient with Fanconi anemia for developmental dislocation of the hip: a case report

    Directory of Open Access Journals (Sweden)

    Zafer Dogan

    2014-06-01

    Full Text Available Fanconi anemia is a rare autosomal recessive inherited bone marrow failure syndrome with congenital and hematological abnormalities. Literature regarding the anesthetic management in these patients is limited. A management of a developmental dislocation of the hip was described in a patient with fanconi anemia. Because of the heterogeneous nature, a patient with fanconi anemia should be established thorough preoperative evaluation in order to diagnose on clinical features. In conclusion, we preferred caudal anesthesia in this patient with fanconi anemia without thrombocytopenia, because of avoiding from N2O, reducing amount of anesthetic, existing microcephaly, hypothyroidism and elevated liver enzymes, providing postoperative analgesia, and reducing amount of analgesic used postoperatively.

  6. Upregulated LINE-1 Activity in the Fanconi Anemia Cancer Susceptibility Syndrome Leads to Spontaneous Pro-inflammatory Cytokine Production.

    Science.gov (United States)

    Brégnard, Christelle; Guerra, Jessica; Déjardin, Stéphanie; Passalacqua, Frank; Benkirane, Monsef; Laguette, Nadine

    2016-06-01

    Fanconi Anemia (FA) is a genetic disorder characterized by elevated cancer susceptibility and pro-inflammatory cytokine production. Using SLX4(FANCP) deficiency as a working model, we questioned the trigger for chronic inflammation in FA. We found that absence of SLX4 caused cytoplasmic DNA accumulation, including sequences deriving from active Long INterspersed Element-1 (LINE-1), triggering the cGAS-STING pathway to elicit interferon (IFN) expression. In agreement, absence of SLX4 leads to upregulated LINE-1 retrotransposition. Importantly, similar results were obtained with the FANCD2 upstream activator of SLX4. Furthermore, treatment of FA cells with the Tenofovir reverse transcriptase inhibitor (RTi), that prevents endogenous retrotransposition, decreased both accumulation of cytoplasmic DNA and pro-inflammatory signaling. Collectively, our data suggest a contribution of endogenous RT activities to the generation of immunogenic cytoplasmic nucleic acids responsible for inflammation in FA. The additional observation that RTi decreased pro-inflammatory cytokine production induced by DNA replication stress-inducing drugs further demonstrates the contribution of endogenous RTs to sustaining chronic inflammation. Altogether, our data open perspectives in the prevention of adverse effects of chronic inflammation in tumorigenesis. Copyright © 2016 The Authors. Published by Elsevier B.V. All rights reserved.

  7. Fanconi Anemia — Case Report of Rare Aplastic Anemia at Child

    Directory of Open Access Journals (Sweden)

    Deaconu Alina

    2014-06-01

    Full Text Available Introduction: Fanconi anemia is an autosomal recessive disease characterized by congenital abnormalities, defective haematopoiesis, and a high risk of developing acute myeloid leukaemia, myelodysplastic syndrome and cancers. FA was first described in 1927 by the Swiss pediatrician Guido Fanconi. The diagnosis is based on morphological abnormalities, hematologic abnormalities (pancytopenia, macrocytic anemia and progressive bone marrow failure and genetic tests (cariograma.

  8. Fanconi anemia - learning from children

    Directory of Open Access Journals (Sweden)

    Johanna Svahn

    2011-06-01

    Full Text Available Fanconi Anemia (FA is a rare autosomic recessive and X-linked disease with chromosomal instability after exposure to crosslinking agents as the hallmark. Clinical features of FA are somatic malformations, progressive bone marrow failure and cancer proneness, however there is wide clinical heterogeneity. The symptom most frequently and early associated with morbidity and mortality is progressive pancytopenia in the first decade of life although acute myelogenous leukemia (AML or myelodysplastic syndrome (MDS can appear before aplastic anemia. Squamous cell carcinoma (SCC of the head-neck, intestinal or genital tract has a very high incidence in FA and can appear at young age. This paper will focus on treatment of bone marrow failure in FA.

  9. Fanconi Bickel Syndrome: Novel Mutations in GLUT 2 Gene Causing a Distinguished Form of Renal Tubular Acidosis in Two Unrelated Egyptian Families

    Directory of Open Access Journals (Sweden)

    Mohammad Al-Haggar

    2011-01-01

    Full Text Available Background. Fanconi-Bickel syndrome (FBS is an autosomal recessive disorder caused by defects in facilitative glucose transporter 2 (GLUT2 or SLC2A2 gene mapped on chromosome 3q26.1-26.3, that codes for the glucose transporter protein 2. Methods. Two unrelated Egyptian families having suspected cases of FBS were enrolled after taking a written informed consent; both had positive consanguinity, and index cases had evidences of proximal renal tubular defects with hepatomegaly; they were subjected to history taking, signs of rickets as well as anthropometric measurements. Laboratory workup included urinalysis, renal and liver function tests including fasting and postprandial blood sugar; serum calcium, phosphorus, alkaline phosphatase, sodium and potassium, lipid profile, and detailed blood gas. Imaging including bone survey and abdominal ultrasound, and liver biopsy were done to confirm diagnosis. Molecular analysis of the GLUT2 gene was done for DNA samples extracted from peripheral blood leukocyte. All coding sequences, including flanking introns in GLUT2 gene, were amplified using PCR followed by direct sequencing. Results. Two new mutations had been detected, one in each family, in exon 3 two bases (GA were deleted (c.253 254delGA and in exon 6 in the second family, G-to-C substitution at position-1 of the splicing acceptor site (c.776-1G>C or IVS5-1G>A. Conclusion. FBS is a rare disease due to mutation in GLUT2 gene; many mutations were reported, about half were novel mutations; yet none of these mutations is more frequent. A more extensive survey for the most frequent mutations among FBS has to be contemplated to allow for use of molecular screening tests like ARMS.

  10. Adult respiratory distress syndrome

    International Nuclear Information System (INIS)

    Murphy, C.H.; Colvin, R.S.

    1987-01-01

    Due to improved emergency resuscitation procedures, and with advancing medical technology in the field of critical care, an increasing number of patients survive the acute phase of shock and catastrophic trauma. Patients who previously died of massive sepsis, hypovolemic or hypotensive shock, multiple fractures, aspiration, toxic inhalation, and massive embolism are now surviving long enough to develop previously unsuspected and unrecognized secondary effects. With increasing frequency, clinicians are recognizing the clinical and radiographic manifestations of pathologic changes in the lungs occurring secondary to various types of massive insult. This paper gives a list of diseases that have been shown to precipitate or predispose to diffuse lung damage. Various terms have been used to describe the lung damage and respiratory failure secondary to these conditions. The term adult respiratory distress syndrome (ARDS) is applied to several cases of sudden respiratory failure in patients with previously healthy lungs following various types of trauma or shock. Numerous investigations and experiments have studied the pathologic changes in ARDS, and, while there is still no clear indication of why it develops, there is now some correlation of the sequential pathologic developments with the clinical and radiographic changes

  11. Oxidative Stress -a Phenotypic Hallmark of Fanconi Anemia and ...

    African Journals Online (AJOL)

    prone diseases such as Fanconi anemia (FA) and Down syndrome (DS). Aim: To explore the oxidative stress state in children with DS and FA by estimating the levels of antioxidants (e.g., malondialdehyde [MDA], total antioxidant capacity, and ...

  12. [Creation and report of the Tunisian Fanconi Anemia Registry (TFAR)].

    Science.gov (United States)

    Hadiji Mseddi, S; Kammoun, L; Bellaaj, H; Ben Youssef, Y; Aissaoui, L; Torjemane, L; Telmoudi, F; Amouri, A; Elghezal, H; Ouederni, M; Ben Abdennebi, Y; Hammemi, S; Ben Othmen, T; Ben Abid, H; Bejaoui, M; Abdelhak, S; Hachicha, M; Dellagi, K; Frikha, M

    2012-05-01

    Fanconi anemia (FA) is a genetically and phenotypically heterogeneous inherited disease. Many groups have established FA registries. In Tunisia, in collaboration with the Tunisian Fanconi Anemia Study Group (TFASG), we set up the Tunisian Fanconi Anemia Registry (TFAR). We contacted all hematology and pediatrics departments to include their FA patients diagnosed between January 1983 and December 2008. The registry is available on the TFASG web site (www.fanconi-tunisie.net). Sorting the files brought out 142 patients belonging to 118 families. The mean age at diagnosis was 11 years. There was consanguinity in 86%, malformative syndrome in 91%, and pancytopenia at diagnosis in 69%. Of 28 patients, 95% belonged to the FANCA group. Androgen treatment was given in 109 cases and genoidentical bone marrow transplantation (BMT) in 27 patients. The diagnosis of a myelodysplastic syndrome was retained in 4%, acute leukemia in 6%, and a solid tumor in 2%. The median overall survival time in all patients is 17 years 5 months; it is significantly better in patients having received allografts (p=0.01). FA seems frequent in Tunisia, which is in part explained by the high consanguinity and endogamy in this country. Hematologic impairment is still the most frequent revealing circumstance of the disease. It is often severe or moderate and requires androgen treatment or bone marrow transplantation. BMT should be proposed to all patients with an HLA-compatible donor. Copyright © 2012 Elsevier Masson SAS. All rights reserved.

  13. Cellular and molecular response to irradiation in ataxia telangiectasia and in Fanconi`s anemia

    Energy Technology Data Exchange (ETDEWEB)

    Ridet, A.; Guillouf, C.; Duchaud, E.; Moustacchi, E.; Rosselli, F. [Institut Curie-Recherche, UMR 218, CNRS, 75 - Paris (France)

    1997-03-01

    Ataxia telangiectasia (AT) and Fanconi anemia (FA) are recessive genetic diseases featuring chromosomal instability, increased predisposition to cancer and in vitro hypersensitivity to ionizing radiation (AT) or DNA cross-linking agents (FA). Moreover, an in vivo hypersensitivity to {gamma}-rays exposure was reported in both syndromes. Cellular response to irradiation includes growth arrest (cell cycle modification) and cell death (by apoptosis or necrosis). Since it is generally accepted that apoptosis modulates cellular sensitivity to genotoxic stress, it was of interest to investigate the contribution of apoptosis in determining FA and AT responses to DNA Damaging Agents. The results support the contention that the in vivo hypersensitivity to radiation in these syndromes is not related to a higher rate of apoptotic cells but could be to a higher necrotic response triggering inflammatory reactions in the patients affected by this syndromes. (authors)

  14. Diagnosis of Fanconi Anemia: Chromosomal Breakage Analysis

    Directory of Open Access Journals (Sweden)

    Anneke B. Oostra

    2012-01-01

    Full Text Available Fanconi anemia (FA is a rare inherited syndrome with diverse clinical symptoms including developmental defects, short stature, bone marrow failure, and a high risk of malignancies. Fifteen genetic subtypes have been distinguished so far. The mode of inheritance for all subtypes is autosomal recessive, except for FA-B, which is X-linked. Cells derived from FA patients are—by definition—hypersensitive to DNA cross-linking agents, such as mitomycin C, diepoxybutane, or cisplatinum, which becomes manifest as excessive growth inhibition, cell cycle arrest, and chromosomal breakage upon cellular exposure to these drugs. Here we provide a detailed laboratory protocol for the accurate assessment of the FA diagnosis as based on mitomycin C-induced chromosomal breakage analysis in whole-blood cultures. The method also enables a quantitative estimate of the degree of mosaicism in the lymphocyte compartment of the patient.

  15. Diagnosis of Fanconi Anemia: Chromosomal Breakage Analysis

    Science.gov (United States)

    Oostra, Anneke B.; Nieuwint, Aggie W. M.; Joenje, Hans; de Winter, Johan P.

    2012-01-01

    Fanconi anemia (FA) is a rare inherited syndrome with diverse clinical symptoms including developmental defects, short stature, bone marrow failure, and a high risk of malignancies. Fifteen genetic subtypes have been distinguished so far. The mode of inheritance for all subtypes is autosomal recessive, except for FA-B, which is X-linked. Cells derived from FA patients are—by definition—hypersensitive to DNA cross-linking agents, such as mitomycin C, diepoxybutane, or cisplatinum, which becomes manifest as excessive growth inhibition, cell cycle arrest, and chromosomal breakage upon cellular exposure to these drugs. Here we provide a detailed laboratory protocol for the accurate assessment of the FA diagnosis as based on mitomycin C-induced chromosomal breakage analysis in whole-blood cultures. The method also enables a quantitative estimate of the degree of mosaicism in the lymphocyte compartment of the patient. PMID:22693659

  16. Loss-of-Function FANCL Mutations Associate with Severe Fanconi Anemia Overlapping the VACTERL Association

    NARCIS (Netherlands)

    Vetro, Annalisa; Iascone, Maria; Limongelli, Ivan; Ameziane, Najim; Gana, Simone; Mina, Erika Della; Giussani, Ursula; Ciccone, Roberto; Forlino, Antonella; Pezzoli, Laura; Rooimans, Martin A.; van Essen, Ton; Messa, Jole; Rizzuti, Tommaso; Bianchi, Paolo; Dorsman, Josephine; de Winter, Johan P.; Lalatta, Faustina; Zuffardi, Orsetta

    The diagnosis of VACTERL syndrome can be elusive, especially in the prenatal life, due to the presence of malformations that overlap those present in other genetic conditions, including the Fanconi anemia (FA). We report on three VACTERL cases within two families, where the two who arrived to be

  17. Adult polysplenia syndrome. A case report

    International Nuclear Information System (INIS)

    Usamentiaga, E.; Garcia-Valtuille, R.; Abascal, F.; Artiz, A.

    1997-01-01

    Polysplenia syndrome is a rare combination of congenital anomalies. It includes in a variable range: abdominal heterotaxy with multiples splenic nodules on the right side, cardiopulmonary anomalies and incomplete development of the inferior vena cava. We present the findings of a case of polysplenia syndrome performed by CT in an Adult asyntomatic patient. 11 refs

  18. Structure of the FANCI-FANCD2 Complex: Insights into the Fanconi Anemia DNA Repair Pathway

    Energy Technology Data Exchange (ETDEWEB)

    Joo, Woo; Xu, Guozhou; Persky, Nicole S.; Smogorzewska, Agata; Rudge, Derek G.; Buzovetsky, Olga; Elledge, Stephen J.; Pavletich, Nikola P. (Harvard-Med); (Cornell); (MSKCC)

    2011-08-29

    Fanconi anemia is a cancer predisposition syndrome caused by defects in the repair of DNA interstrand cross-links (ICLs). Central to this pathway is the Fanconi anemia I-Fanconi anemia D2 (FANCI-FANCD2) (ID) complex, which is activated by DNA damage-induced phosphorylation and monoubiquitination. The 3.4 angstrom crystal structure of the {approx}300 kilodalton ID complex reveals that monoubiquitination and regulatory phosphorylation sites map to the I-D interface, suggesting that they occur on monomeric proteins or an opened-up complex and that they may serve to stabilize I-D heterodimerization. The 7.8 angstrom electron-density map of FANCI-DNA crystals and in vitro data show that each protein has binding sites for both single- and double-stranded DNA, suggesting that the ID complex recognizes DNA structures that result from the encounter of replication forks with an ICL.

  19. Structure of the FANCI-FANCD2 Complex: Insights into the Fanconi Anemia DNA Repair Pathway

    Energy Technology Data Exchange (ETDEWEB)

    W Joo; G Xu; n Persky; A Smogorzewska; D Rudge; O Buzovetsky; S Elledge; N Pavletich

    2011-12-31

    Fanconi anemia is a cancer predisposition syndrome caused by defects in the repair of DNA interstrand cross-links (ICLs). Central to this pathway is the Fanconi anemia I-Fanconi anemia D2 (FANCI-FANCD2) (ID) complex, which is activated by DNA damage-induced phosphorylation and monoubiquitination. The 3.4 angstrom crystal structure of the {approx}300 kilodalton ID complex reveals that monoubiquitination and regulatory phosphorylation sites map to the I-D interface, suggesting that they occur on monomeric proteins or an opened-up complex and that they may serve to stabilize I-D heterodimerization. The 7.8 angstrom electron-density map of FANCI-DNA crystals and in vitro data show that each protein has binding sites for both single- and double-stranded DNA, suggesting that the ID complex recognizes DNA structures that result from the encounter of replication forks with an ICL.

  20. Normal expression of the Fanconi anemia proteins FAA and FAC and sensitivity to mitomycin C in two patients with Seckel syndrome

    NARCIS (Netherlands)

    Abou-Zahr, F; Bejjani, B; Kruyt, FAE; Kurg, R; Bacino, C; Shapira, SK; Youssoufian, H

    1999-01-01

    Seckel syndrome is a rare autosomal recessive disorder. The classical presentation includes pre- and postnatal growth deficiency, mental retardation, and characteristic facial appearance. There have been several reports of associated hematological abnormalities and chromosomal breakage, findings

  1. Ophthalmic Disorders in Adults with Down Syndrome

    Directory of Open Access Journals (Sweden)

    Sharon J. Krinsky-McHale

    2012-01-01

    Full Text Available A myriad of ophthalmic disorders is associated with the phenotype of Down syndrome including strabismus, cataracts, and refractive errors potentially resulting in significant visual impairment. Ophthalmic sequelae have been extensively studied in children and adolescents with Down syndrome but less often in older adults. In-depth review of medical records of older adults with Down syndrome indicated that ophthalmic disorders were common. Cataracts were the most frequent ophthalmic disorder reported, followed by refractive errors, strabismus, and presbyopia. Severity of intellectual disability was unrelated to the presence of ophthalmic disorders. Also, ophthalmic disorders were associated with lower vision-dependent functional and cognitive abilities, although not to the extent that was expected. The high prevalence of ophthalmic disorders highlights the need for periodic evaluations and individualized treatment plans for adults with Down syndrome, in general, but especially when concerns are identified.

  2. The Fanconi Anemia Pathway of Genomic Maintenance

    Directory of Open Access Journals (Sweden)

    Marieke Levitus

    2006-01-01

    Full Text Available Fanconi anemia (FA, a recessive syndrome with both autosomal and X-linked inheritance, features diverse clinical symptoms, such as progressive bone marrow failure, hypersensitivity to DNA cross-linking agents, chromosomal instability and susceptibility to cancer. At least 12 genetic subtypes have been described (FA-A, B, C, D1, D2, E, F, G, I, J, L, M and all except FA-I have been linked to a distinct gene. Most FA proteins form a complex that activates the FANCD2 protein via monoubiquitination, while FANCJ and FANCD1/BRCA2 function downstream of this step. The FA proteins typically lack functional domains, except for FANCJ/BRIP1 and FANCM, which are DNA helicases, and FANCL, which is probably an E3 ubiquitin conjugating enzyme. Based on the hypersensitivity to cross-linking agents, the FA proteins are thought to function in the repair of DNA interstrand cross-links, which block the progression of DNA replication forks. Here we present a hypothetical model, which not only describes the assembly of the FA pathway, but also positions this pathway in the broader context of DNA cross-link repair. Finally, the possible role for the FA pathway, in particular FANCF and FANCB, in the origin of sporadic cancer is discussed.

  3. Lack of mutations in the TP53 tumor suppressor gene exons 5 to 8 in Fanconi's anemia.

    Science.gov (United States)

    Jonveaux, P; Le Coniat, M; Grausz, D; Berger, R

    1991-01-01

    The TP53 gene is considered to be a negative regulator of cell growth whose inactivation is an important step in the development or progression of malignancies. Recently, germ line TP53 mutations have been detected in a familial cancer syndrome, the dominantly inherited Li-Fraumeni syndrome. Using single strand conformation polymorphism analysis of PCR products, we looked for TP53 mutations in DNA of patients with Fanconi anemia, an autosomal recessive disease characterized by increased predisposition to neoplasia. We did not find any TP53 mutation in 13 patients, suggesting that this tumor suppressor gene is not directly involved in the cancer susceptibility observed in Fanconi's anemia.

  4. A novel ubiquitin ligase is deficient in Fanconi anemia.

    NARCIS (Netherlands)

    Meetei, AR; Winter, de J.P.; Medhurst, A.L. dr.; Wallisch, M; Waisfisz, Q.; Vrugt, van der H.J.; Oostra, A.B.; Yan, Z; Ling, C; Bishop, CE; Hoatlin, M.E.; Joenje, H.

    2003-01-01

    Fanconi anemia is a recessively inherited disease characterized by congenital defects, bone marrow failure and cancer susceptibility. Cells from individuals with Fanconi anemia are highly sensitive to DNA-crosslinking drugs, such as mitomycin C (MMC). Fanconi anemia proteins function in a DNA damage

  5. Adult Health: Worried About Empty Nest Syndrome?

    Science.gov (United States)

    ... stage, gender, and age. Journal of Occupational Health Psychology. 2014;19:376. April 13, 2018 Original article: http://www.mayoclinic.org/healthy-lifestyle/adult-health/in-depth/empty-nest-syndrome/art-20047165 . Mayo Clinic Footer Legal Conditions and Terms Any use of ...

  6. Theory of Mind in Adults with HFA and Asperger Syndrome

    Science.gov (United States)

    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…

  7. Cytoplasmic localization of a functionally active Fanconi anemia group A green fluorescent protein chimera in human 293 cells

    NARCIS (Netherlands)

    Kruyt, FAE; Waisfisz, Q; Dijkmans, LM; Hermsen, M.A.; Youssoufian, H; Arwert, F; Joenje, H

    1997-01-01

    Hypersensitivity to cross-linking agents and predisposition to malignancy are characteristic of the genetically heterogeneous inherited bone marrow failure syndrome, Fanconi anemia (FA). The protein encoded by the recently cloned FA complementation group A gene, FAA, has been expected to localize in

  8. Increased radiosensitivity of a subpopulation of T-lymphocyte progenitors from patients with Fanconi's anemia

    International Nuclear Information System (INIS)

    Knox, S.J.; Wilson, F.D.; Greenberg, B.R.; Shifrine, M.; Rosenblatt, L.S.; Reeves, J.D.; Misra, H.

    1981-01-01

    In vitro radiation survival of peripheral blood T lymphocytes was studied in 15 clinically normal adults and 4 patients with Fanconi's anemia. Tritiated thymidine incorporation in a whole blood lymphocyte stimulation test (LST) and a newly developed whole blood T-lymphocyte colony assay were used to measure lymphocyte blastogenesis and colony formation in response to phytohemagglutinin (PHA) or concanavalin-A (Con-A) stimulation. Lymphocyte colony formation was found to be consistently more sensitive than the LST for detection of low-level radiation effects using both normal cells and lymphocytes from Fanconi's anemia patients. Lymphocytes from patients with Fanconi's anemia were significantly more sensitive to in vitro x irradiation than lymphocytes from clinically normal individuals as measured by their ability to divide when stimulated by PHA in the LST and colony formation assay. No significant difference in the radiosensitivity of the Con-A response was observed between the two groups. The PHA-responsive T-lymphocyte subpopulation in Fanconi's anemia patients appears to be intrinsically defective. The nature of this defect, significance in the disease process, and relevancy of these findings to the establishment of radiation protection standards are discussed

  9. [Psychotherapy of Asperger syndrome in adults].

    Science.gov (United States)

    Fangmeier, T; Lichtblau, A; Peters, J; Biscaldi-Schäfer, M; Ebert, D; van Elst, L T

    2011-05-01

    There is an increase in awareness in professionals that the Asperger syndrome (AS) in adulthood is associated with specific problems and burdens which may well differ from those in childhood and adolescence. The core symptoms of AS generally persist into adulthood, however in contrast to childhood and adolescence there is no specific support system for adults in Germany. Also the environment of the afflicted patient changes thus producing different challenges and problems. In addition a subgroup of patients with high functioning AS primarily presents in adulthood generally due to secondary psychosocial problems, depression or anxiety. Difficulties in social interaction, problems with modified daily routines and unforeseen situations cause severe frustration for the majority of the patients. While several therapy programs have been developed and implemented for children and adolescents, for adults there are none. Also there is a lack of comprehensive concepts addressing the specific needs of adult patients with AS. From an economic perspective this is particularly unfortunate since affected people often have good or excellent partial abilities and might be very valuable employees. In this article existing therapeutic concepts for AS are summarized and a newly designed group therapy program for adult patients with Asperger syndrome in Freiburg is introduced (Freiburg Asperger-spezifische Therapie für Erwachsene, FASTER) which specifically addresses the needs and problems of adult patients with AS.

  10. Cantrell Syndrome. Case report of an adult

    Directory of Open Access Journals (Sweden)

    João Luiz Alencar Araripe Falcão

    2000-10-01

    Full Text Available Cantrell syndrome is characterized by defects that involve the diaphragm, abdominal wall, pericardium, heart, and lower region of the sternum. It is a rare entity, usually diagnosed at birth and accompanied by high mortality due to the complexity and gravity of the anomalies. In this report, we present a 32-year-old male patient, who was diagnosed in infancy but who reached adult age asymptomatic.

  11. ADULT VARIANT BARTTER’S SYNDROME- A CASE REPORT

    Directory of Open Access Journals (Sweden)

    Ishwar Sidappa Hasabi

    2017-02-01

    Full Text Available BACKGROUND Bartter syndrome is a group of channelopathies with different genetic origins and molecular pathophysiologies, but sharing common feature of decreased tubular transport of sodium chloride in thick ascending loop of Henle (TAL, 1 although more common in antenatal group. Classic adult variant of Bartter syndrome is a rare entity. We hereby present a rare adult variant of classic Bartter syndrome.

  12. Identification of de Novo Fanconi Anemia in Younger Patients With Newly Diagnosed Acute Myeloid Leukemia

    Science.gov (United States)

    2016-05-13

    Childhood Acute Erythroleukemia (M6); Childhood Acute Megakaryocytic Leukemia (M7); Childhood Acute Minimally Differentiated Myeloid Leukemia (M0); Childhood Acute Monoblastic Leukemia (M5a); Childhood Acute Monocytic Leukemia (M5b); Childhood Acute Myeloblastic Leukemia With Maturation (M2); Childhood Acute Myeloblastic Leukemia Without Maturation (M1); Childhood Acute Myelomonocytic Leukemia (M4); Childhood Myelodysplastic Syndromes; Chronic Myelomonocytic Leukemia; de Novo Myelodysplastic Syndromes; Fanconi Anemia; Refractory Anemia; Refractory Anemia With Excess Blasts; Refractory Anemia With Excess Blasts in Transformation; Refractory Anemia With Ringed Sideroblasts; Secondary Myelodysplastic Syndromes; Untreated Childhood Acute Myeloid Leukemia and Other Myeloid Malignancies

  13. Body composition of Fanconi anemia patients after hematopoietic stem cell transplantation.

    Science.gov (United States)

    Silva, Priscilla Peixoto Policarpo da; Schmit, Daniella; Bonfim, Carmem; Campos, Denise Johnsson; Rabito, Estela Iraci; Vilela, Regina Maria

    Fanconi anemia is a rare genetic disease linked to bone marrow failure; a possible treatment is hematopoietic stem cell transplantation. Changes in the nutritional status of Fanconi anemia patients are not very well known. This study aimed to characterize body composition of adult, children and adolescent patients with Fanconi anemia who were submitted to hematopoietic stem cell transplantation or not. This cross-sectional study enrolled 63 patients (29 adults and 34 children and adolescents). Body composition was assessed based on diverse methods, including triceps skin fold, arm circumference, arm muscle area and bioelectrical impedance analysis, as there is no established consensus for this population. Body mass index was also considered as reference according to age. Almost half (48.3%) of the transplanted adult patients were underweight considering body mass index whereas eutrophic status was observed in 66.7% of the children and adolescents submitted to hematopoietic stem cell transplantation and in 80% of those who were not. At least 50% of all groups displayed muscle mass depletion. Half of the transplanted children and adolescents presented short/very short stature for age. All patients presented low muscle stores, underweight was common in adults, and short stature was common in children and adolescents. More studies are needed to detect whether muscle mass loss measured at the early stages of treatment results in higher risk of mortality, considering the importance of muscle mass as an essential body component to prevent mortality related to infectious and non-infectious diseases and the malnutrition inherent to Fanconi anemia. Copyright © 2017 Associação Brasileira de Hematologia, Hemoterapia e Terapia Celular. Published by Elsevier Editora Ltda. All rights reserved.

  14. [Molecular study of Fanconi anemia in Tunisia].

    Science.gov (United States)

    Bouchlaka, Chiraz; Abdelhak, Sonia; Dellagi, Koussay

    2004-05-01

    Fanconi anemia (FA) is an autosomal recessive rare disease characterized by progressive pancytopenia, congenital malformations and predisposition to acute myeloid leukemia. Fanconi anemia is genetically heterogeneous, with at least eight complementation groups of FA (FAA to FAD2). In order to characterize the molecular defects underlying FA in Tunisia, fourty-one families were genotyped with microsatellite markers linked to known FA gene. Haplotype analysis and homozygosity mapping showed that 92% of these families belong to FAA group. We demonstrated the effectiveness of the molecular analysis for a better selection of bone marrow graft donor and for the evaluation of chimerism after bone marrow transplantation. This study also allows genetic counselling for FA family members.

  15. Osteomalacia in a Case of Adult-Onset Bartter Syndrome

    Directory of Open Access Journals (Sweden)

    Rashid Naseem Khan

    2018-01-01

    Full Text Available Bartter syndrome is a rare heterogeneous disease characterised by a deficiency in sodium and chloride absorption. Gain-of-function mutations in the CASR gene have been described in some patients with Bartter syndrome associated with hypocalcaemia and hypercalciuria. We describe a case of adult-onset Bartter syndrome with hypocalcaemia severe enough to cause osteomalacia.

  16. Mental Health Problems in Adults with Williams Syndrome

    Science.gov (United States)

    Stinton, Chris; Elison, Sarah; Howlin, Patricia

    2010-01-01

    Although many researchers have investigated emotional and behavioral difficulties in individuals with Williams syndrome, few have used standardized diagnostic assessments. We examined mental health problems in 92 adults with Williams syndrome using the Psychiatric Assessment Schedule for Adults with Developmental Disabilities--PAS-ADD (Moss,…

  17. Metabolic syndrome among rural Indian adults.

    Science.gov (United States)

    Barik, Anamitra; Das, Kausik; Chowdhury, Abhijit; Rai, Rajesh Kumar

    2018-02-01

    To prevent an increasing level of mortality due to type 2 diabetes mellitus and cardiovascular disease among the rural Indian population, a management strategy of the metabolic syndrome (MetS) should be devised. This study aims to estimate the burden of MetS and its associated risk factors. Data from the Birbhum Population Project covering 9886 individuals (4810 male and 5076 female population) aged ≥18 years were used. The burden of metabolic syndrome, as defined by the Third Report of the National Cholesterol Education Program Adult Treatment Panel, was determined. Bivariate and multivariate (logistic regression) analyses were used to attain the study objective. Over 10.7% of the males and 20.3% of the females were diagnosed with MetS. Irrespective of sex, older individuals, being overweight/obese (body mass index of ≥23 kg/m 2 ) had higher probability of developing MetS, whereas being underweight is deemed a protective factor against MetS. Low physical activity among women appeared to be a risk factor for MetS. The prevalence of MetS is concerning even in rural India. Any intervention designed to address the issue could emphasize on weight loss, and physical activity, focusing on women and people at an advanced stage of life. Copyright © 2017 European Society for Clinical Nutrition and Metabolism. Published by Elsevier Ltd. All rights reserved.

  18. Macrostructural Narrative Language of Adolescents and Young Adults with Down Syndrome or Fragile X Syndrome

    Science.gov (United States)

    Finestack, Lizbeth H.; Palmer, Meghan; Abbeduto, Leonard

    2012-01-01

    Purpose: To gain a better understanding of language abilities, the expressive macrostructural narrative language abilities of verbally expressive adolescents and young adults with Down syndrome (DS) and those with fragile X syndrome (FXS) were examined. Method: The authors evaluated 24 adolescents and young adults with DS, 12 male adolescents and…

  19. Genetic predisposition syndromes: when should they be considered in the work-up of MDS?

    Science.gov (United States)

    Babushok, Daria V; Bessler, Monica

    2015-03-01

    Myelodysplastic syndromes (MDS) are clonal hematopoietic disorders characterized by cytopenias, ineffective hematopoiesis, myelodysplasia, and an increased risk of acute myeloid leukemia (AML). While sporadic MDS is primarily a disease of the elderly, MDS in children and young and middle-aged adults is frequently associated with underlying genetic predisposition syndromes. In addition to the classic hereditary bone marrow failure syndromes (BMFS) such as Fanconi Anemia and Dyskeratosis Congenita, in recent years there has been an increased awareness of non-syndromic familial MDS/AML predisposition syndromes such as those caused by mutations in GATA2, RUNX1, CEBPA, and SRP72 genes. Here, we will discuss the importance of recognizing an underlying genetic predisposition syndrome a patient with MDS, will review clinical scenarios when genetic predisposition should be considered, and will provide a practical overview of the common BMFS and familial MDS/AML syndromes which may be encountered in adult patients with MDS. Copyright © 2014 Elsevier Ltd. All rights reserved.

  20. Oral Health of Down Syndrome Adults in Bosnia and Herzegovina

    OpenAIRE

    Porovic, Selma; Zukanovic, Amila; Juric, Hrvoje; Dinarevic, Senka Mesihovic

    2016-01-01

    Introduction: The objective of this study was to determine the oral health condition Down syndrome (DS) adults in Bosnia and Herzegovina, by analyzing oral health of Down syndrome individuals in two largest regions, Sarajevo and Tuzla Canton. Patients and Methods: Caries and oral health status of 33 Down syndrome adults aged 19-45 years were examined and assessed according WHO 1997 criteria. Results: The mean DMFT index is 15,96?8,08. The analysis of oral hygiene of Down syndrome children by ...

  1. Fanconi anemia and vaginal squamous cell carcinoma

    Directory of Open Access Journals (Sweden)

    Jesus Paula Carvalho

    2012-01-01

    Full Text Available Fanconi Anemia (FA is an autosomal recessive disease characterized by chromosome instability, cellular hypersensitivity to DNA cross-linking agents, and increased predisposition to malignancies. We describe here a 28 year-old female with FA and vaginal squamous cell carcinoma treated by radiation therapy alone. The patient developed arm phlebitis, pulmonary fungal infection, and severe rectal bleeding, followed by hypocalcaemia, hypokalemia, vaginal bacterial and fungal infection, with subsequent leg and arm phlebitis, perineal abscess, and sepsis. The patient died 12 weeks later.

  2. Adult Prader-Willi Syndrome: An Update on Management

    Directory of Open Access Journals (Sweden)

    Luk Ho-Ming

    2016-01-01

    Full Text Available With the advancement of medical care, the survival of most patients with syndromal genetic disease is greatly improved. In this case report, we have reported an adult Prader-Willi syndrome patient who is being diagnosed at the age of 33. The clinical features and their associated complications during adulthood have been reviewed.

  3. Psychiatric Symptoms in Adults with Down Syndrome and Alzheimer's Disease

    Science.gov (United States)

    Urv, Tiina K.; Zigman, Warren B.; Silverman, Wayne

    2010-01-01

    Changes in psychiatric symptoms related to specific stages of dementia were investigated in 224 adults 45 years of age or older with Down syndrome. Findings indicate that psychiatric symptoms are a prevalent feature of dementia in the population with Down syndrome and that clinical presentation is qualitatively similar to that seen in Alzheimer's…

  4. Adult Prader-Willi Syndrome: An Update on Management

    OpenAIRE

    Ho-Ming, Luk

    2016-01-01

    With the advancement of medical care, the survival of most patients with syndromal genetic disease is greatly improved. In this case report, we have reported an adult Prader-Willi syndrome patient who is being diagnosed at the age of 33. The clinical features and their associated complications during adulthood have been reviewed.

  5. Association between Metabolic Syndrome and Microalbuminuria in Korean Adults

    OpenAIRE

    Lee, Hyun-Ok; Bak, Hyun-Ju; Shin, Jin-Young; Song, Yun-Mi

    2015-01-01

    Background We conducted a population-based cross-sectional study of Korean adults to evaluate the association between metabolic syndrome and microalbuminuria as a marker for early-stage chronic kidney disease. Methods A total of 8,497 adults (3,625 men and 4,872 women) who participated in the Korea National Health and Nutrition Examination Survey between 2011 and 2012 were included. Metabolic syndrome was defined according to recommendation from a joint interim statement of international orga...

  6. [Nosologic discussion between Fanconi disease and congenital dyskeratosis: 1 case of congenital bone marrow aplasia].

    Science.gov (United States)

    Mseddi, S; Ben Aribia, N; Horchani, R; Elloumi, M; Elghezal, H; Souissi, T

    2006-09-01

    Based on a case report of aplastic anemia associated with malformation, we discuss the diagnostic criteria and the nosologic problem between the 2 principal aplastic anemia accompanied with malformation: Fanconi disease and dyskeratosis congenita. A 19-year-old girl, issued from a third degree consanguineous marriage, was admitted because of anemic and hemorrhagic syndrome. Physical examination showed several malformations: microphtalmia, brownish spots, generalized hyperpigmentation and ungueal dystrophy without mucosal leucoplasia. Statural and ponderal retardation were noted. On the hemogram there was a pancytopenia and on biopsy, the bone marrow was desertic. The caryotype performed on peripheral blood lymphocytes after sensibilisation with mitomycin C revealed chromosomal instability aspects. Based on these clinical and biological features, the diagnosis of hereditary aplastic anaemia was retained. The patient was given norethandrolone. She died 3 months later by septic shock. Coexistence of aplastic anemia with a malformative syndrome suggests most probably an hereditary form of aplastic anemia. Fanconi anemia is the most frequent. It associates characteristic anomalies of the face, with microphtalmia, brownish spots, statural and ponderal retardation, and thumb anomalies. Ungueal dystrophy, mucosal leucoplasia are almost pathognomonic of congenital dyskeratosis. When the malformative syndrome is not characteristic, the cytogenetic study may also fail to make the differential diagnosis, as was the situation in our case.

  7. The clinical and radiological features of Fanconi's anaemia pictorial review

    International Nuclear Information System (INIS)

    De Kerviler, E.; Guermazi, A.; Zagdanski, A.-M.; Gluckman, E.; Frija, J.

    2000-01-01

    Fanconi's anaemia is a severe refractory anaemia, associated with congenital malformations in approximately two-thirds of cases. Although these malformations may involve every organ system, suggestive dysmorphic features include growth retardation, radial ray deformities and urinary malformations. These malformations are not specific for Fanconi's anaemia, but should be recognized during pregnancy, or later in childhood, and suggest the possibility of inherited haematopoiesis disorders. De Kerviler, E. (2000)

  8. Neural Mechanisms Underlying Action Observation in Adults with Down Syndrome

    Science.gov (United States)

    Virji-Babul, Naznin; Moiseev, Alexander; Cheung, Teresa; Weeks, Daniel J.; Cheyne, Douglas; Ribary, Urs

    2010-01-01

    Results of a magnetoencephalography (MEG) brain imaging study conducted to examine the cortical responses during action execution and action observation in 10 healthy adults and 8 age-matched adults with Down syndrome are reported. During execution, the motor responses were strongly lateralized on the ipsilateral rather than the contralateral side…

  9. Metabolic syndrome in HIV infected adults in Poland.

    Science.gov (United States)

    Rogalska-Płońska, Magdalena; Grzeszczuk, Anna; Rogalski, Paweł; Łucejko, Mariusz; Flisiak, Robert

    2018-01-19

    Metabolic syndrome (MS) is usually diagnosed based on presence of abdominal obesity, elevated blood pressure, elevated fasting plasma glucose, high serum triglycerides (TG) and low high-density lipoprotein levels (HDL). Whether HIV is associated with a higher prevalence of metabolic syndrome than general population remains unclear. Aim of the study was to determine the incidence of metabolic syndrome in the population of HIV infected adults and its association with clinical, virological and biochemical features. Two hundred and seventy HIV infected Caucasian adult patients were enrolled in the study and evaluated based on clinical records in years 2013-2015. Metabolic syndrome was diagnosed in 60 out of 270 (22%) patients, 47 (24%) males and 13 (17%) females, mostly (72%) aged above 40 years. Percentage of patients with diagnosed metabolic syndrome in specific age groups in comparison to general Polish population for females aged metabolic syndrome in MS population were found as follows: BMI > 30 kg/m2 in 29%, waist circumference exceeding 94cm in men and 80cm in woman - 87.5%, TG ≥ 150 mg/dL - 82%, HDL 100 mg/dL - 42%. In the stepwise multivariate logistic regression analysis, age (OR: 1.052, 95% CI: 1.018 - 1.088, p=0.003) and nadir CD4 metabolic syndrome in HIV infected population is higher than in general Polish population. Age and low nadir CD4 were found to be associated with metabolic syndrome.

  10. UV-repair is impaired in fibroblasts from patients with Fanconi's anemia

    International Nuclear Information System (INIS)

    Schwaiger, H.; Hirsch-Kauffmann, M.; Schweiger, M.; Innsbruck Univ.

    1982-01-01

    Fanconi's anemia, a hereditary autosomal disease with chromosomal instability, elevated incidence of cancer and clinical symptoms is accompanied by a DNA repair deficiency. Fibroblasts from patients with Fanconi's anemia were found to be impaired in the DNA repair of UV damage. Nucleoid decondensation and recondensation after UV irradiation were less efficient in fibroblasts from patients with Fanconi's anemia than in those from a healthy proband. These data confirm our earlier findings that DNA ligase is deficient in Fanconi's anemia. (orig.)

  11. [Evaluation of the primary caregiver syndrome when caring for elderly adults with immobility syndrome].

    Science.gov (United States)

    Morales-Cariño, Elizabeth María; Jiménez-Herrera, Blanca L; Serrano-Miranda, Tirzo A

    2012-01-01

    Caregiver syndrome may develop in caregivers of elderly adults. To evaluate the repercussions of the immobility syndrome present in elderly adults on their primary caregivers as well as to determine the clinical and socio-demographic characteristics of the elderly adult and caregiver. The study population included patients over 65 recruited in the Geriatric Rehabilitation Department, with the diagnosis of immobility syndrome and that required a primary caregiver. A questionnaire including socio-demographic variables was applied to all patients and caregivers, and the Zarit scale was also applied to caregivers in order to determine the presence of caregiver syndrome. Analysis was performed with descriptive statistical methods; Student's t test and Fisher's test were used for comparisons between strata. 75 patients and their caregivers were evaluated; patient average age was 75.9 years and 85.3% were female. 50.7% (38 cases) had mild immobility. The average caregiver's age was 50.6%, 70.7% were female and 57.3% were the patient's daughter. Caregiver syndrome was detected in 60% of them: 57.7% had mild symptoms and in 42.2%, symptoms were moderate to severe. No statistically significant association was established between the development of caregiver syndrome and the degree of patient immobility. Caregivers of patients with immobility syndrome are at high risk of developing caregiver syndrome, thus underscoring the need to include primary caregiver support programs.

  12. Management of Turner syndrome in adult life and beyond.

    Science.gov (United States)

    Castelo-Branco, Camil

    2014-12-01

    To describe in practical terms the clinical management in adult life of patients with Turner syndrome. Systematic review of the literature and practical issues. An evaluation of clinical trials, meta-analysis, case reports and reviews assessing the management of different conditions related to Turner syndrome was done using the following data sources: Medline, PubMed (from 1966 to July 2014) and the Cochrane Controlled Clinical Trials Register, Embase (up to July 2014). Extracted information is summarized here on karyotype, screening of malformations, malformations debuting in adult life, final height, treatments with growth hormone, cardiovascular risk, endocrino-metabolic and liver abnormalities, sensorineural disorders and osteoporosis and its treatment. This review provides recommendations for the management of adult patients with Turner syndrome and insight into the associated medical complaints. A link between karyotypes and clinical features suggests a novel hypothesis to explain the different phenotypes and clinical abnormalities of these patients. Copyright © 2014 Elsevier Ireland Ltd. All rights reserved.

  13. Obesity and Metabolic Syndrome Among Adult Survivors of Childhood Leukemia.

    Science.gov (United States)

    Gibson, Todd M; Ehrhardt, Matthew J; Ness, Kirsten K

    2016-04-01

    Treatment-related obesity and the metabolic syndrome in adult survivors of childhood acute lymphoblastic leukemia (ALL) are risk factors for cardiovascular disease. Both conditions often begin during therapy. Preventive measures, including dietary counseling and tailored exercise, should be initiated early in the course of survivorship, with referral to specialists to optimize success. However, among adults who develop obesity or the metabolic syndrome and who do not respond to lifestyle therapy, medical intervention may be indicated to manage underlying pathology, such as growth hormone deficiency, or to mitigate risk factors of cardiovascular disease. Because no specific clinical trials have been done in this population to treat metabolic syndrome or its components, clinicians who follow adult survivors of childhood ALL should use the existing American Heart Association/National Heart Lung and Blood Institute Scientific Statement to guide their approach.

  14. Cell-Cycle-Specific Function of p53 in Fanconi Anemia Hematopoietic Stem and Progenitor Cell Proliferation

    Directory of Open Access Journals (Sweden)

    Xiaoli Li

    2018-02-01

    Full Text Available Summary: Overactive p53 has been proposed as an important pathophysiological factor for bone marrow failure syndromes, including Fanconi anemia (FA. Here, we report a p53-dependent effect on hematopoietic stem and progenitor cell (HSPC proliferation in mice deficient for the FA gene Fanca. Deletion of p53 in Fanca−/− mice leads to replicative exhaustion of the hematopoietic stem cell (HSC in transplant recipients. Using Fanca−/− HSCs expressing the separation-of-function mutant p53515C transgene, which selectively impairs the p53 function in apoptosis but keeps its cell-cycle checkpoint activities intact, we show that the p53 cell-cycle function is specifically required for the regulation of Fanca−/− HSC proliferation. Our results demonstrate that p53 plays a compensatory role in preventing FA HSCs from replicative exhaustion and suggest a cautious approach to manipulating p53 signaling as a therapeutic utility in FA. : In this article, Pang and colleagues demonstrate a p53-dependent HSPC proliferation regulation in mice deficient for the Fanca gene in the Fanconi anemia (FA pathway. They show that the p53 cell-cycle function is specifically required for the regulation of FA HSC proliferation. These results suggest that overactive p53 may represent a compensatory checkpoint mechanism for FA HSC proliferation. Keywords: p53, bone marrow failure, Fanconi anemia, hematopoietic stem and progenitor cells, apoptosis, cell cycle, proliferation

  15. Theory of mind in adults with HFA and Asperger syndrome.

    Science.gov (United States)

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

    2010-03-01

    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 the Eyes test. Furthermore, correlations between the Eyes test and the three other theory of mind tests were low or absent. Therefore one can question the ability of the Eyes test to measure theory of mind. Of all theory of mind tests used, the self-report questionnaire had the largest discriminating power in differentiating the two disorder groups from the neurotypical group.

  16. Bare lymphocyte syndrome: imaging findings in an adult

    Energy Technology Data Exchange (ETDEWEB)

    Bernaerts, A.; Vandevenne, J.E.; De Schepper, A.M. [Dept. of Radiology, Universitair Ziekenhuis Antwerpen, Edegem (Belgium); Lambert, J. [Dept. of Dermatology, Universitair Ziekenhuis Antwerpen, Edegem (Belgium); De Clerck, L.S. [Dept. of Immunology, Universitair Ziekenhuis Antwerpen, Edegem (Belgium)

    2001-05-01

    Bare lymphocyte syndrome (BLS) is a rare primary immune disorder characterized by defective expression of human leukocyte antigen (HLA) on lymphocytes, often resulting in extensive and recurrent multi-organ infections. We describe a previously undiagnosed case of an adult woman who presented with radiological findings of severe bronchiectases, near-total granulomatous destruction of facial bones, and osteomyelitis. Diagnosis of BLS should be considered when evaluating children with unexplained bronchiectases or adults with long history of chronic multi-organ infections. (orig.)

  17. Association between Metabolic Syndrome and Microalbuminuria in Korean Adults.

    Science.gov (United States)

    Lee, Hyun-Ok; Bak, Hyun-Ju; Shin, Jin-Young; Song, Yun-Mi

    2015-03-01

    We conducted a population-based cross-sectional study of Korean adults to evaluate the association between metabolic syndrome and microalbuminuria as a marker for early-stage chronic kidney disease. A total of 8,497 adults (3,625 men and 4,872 women) who participated in the Korea National Health and Nutrition Examination Survey between 2011 and 2012 were included. Metabolic syndrome was defined according to recommendation from a joint interim statement of international organizations published in 2009. Microalbuminuria was defined as a urinary albumin-to-creatinine ratio of 30 to 300 mg/g. The association between metabolic syndrome and microalbuminuria was evaluated using logistic regression analysis with adjustment for covariates while considering sampling weights and the complex survey design. The prevalence of microalbuminuriain subjects with metabolic syndrome was 11% for men and 14.4% for women, whereas the prevalence in subjects without metabolic syndrome was 3.1% for men and 6.7% for women. Metabolic syndrome was significantly associated with an increased risk of microalbuminuriain both women (odds ratio, 2.79; 95% confidence interval, 2.01 to 3.88) and men (odds ratio, 3.00; 95% confidence interval, 2.11 to 4.27). All components of the metabolic syndrome were associated with a significantly increased risk of microalbuminuria with the strongest association for high blood pressure. The risk of microalbuminuria increased in a dose-dependent manner (P-value for trend metabolic syndrome components observed for both sexes. These findings suggest that metabolic syndrome is a risk factor for chronic kidney disease from an early stage.

  18. Down Syndrome in Adults: Staying Healthy

    Science.gov (United States)

    ... in Children and TeensRead MoreBMI Calculator Ankle Sprains: Healing and Preventing InjuryKnee Bracing: What Works?Cat and ... have Down syndrome may develop symptoms similar to Alzheimer’s disease (a kind of dementia). This can occur ...

  19. Fifteen-Year Follow-Up of Thyroid Status in Adults with Down Syndrome

    Science.gov (United States)

    Prasher, V.; Ninan, S.; Haque, S.

    2011-01-01

    Background: The natural history of thyroid function in adults with Down syndrome is relatively unknown with limited long-term follow-up data. Method: This study investigated annual thyroid function tests in 200 adults with Down syndrome over a 15-year period. Results: For healthy adults with Down syndrome there is a gradual increase in thyroxine…

  20. Examining Reports of Mental Health in Adults with Williams Syndrome

    Science.gov (United States)

    Stinton, Chris; Tomlinson, Katie; Estes, Zachary

    2012-01-01

    Prior research suggests that individuals with Williams syndrome (WS) have a disposition towards anxiety. Information regarding this is typically derived from parents and carers. The perspectives of the individuals with WS are rarely included in research of this nature. We examined the mental health of 19 adults with WS using explicit (psychiatric…

  1. Mobile caecum and ascending colon syndrome in a Nigerian adult

    African Journals Online (AJOL)

    posterior peritoneum. Appendectomy and caecopexy, using a lateral peritoneal flap were performed. The diagnosis of mobile caecal syndrome should be considered in patients with chronic right lower quadrant pain, and appendectomy and caecopexy offers a great relief. Keywords: Adult, ascending colon, mobile caecum, ...

  2. Birth weight and polycystic ovary syndrome in adult life

    DEFF Research Database (Denmark)

    Mumm, Hanne; Kamper-Jørgensen, Mads; Nybo Andersen, Anne-Marie

    2013-01-01

    OBJECTIVE: To study the association between birth weight and polycystic ovary syndrome (PCOS) in adult life in Danish women born 1973-1991. DESIGN: Register study. SETTING: Data were extracted from the Danish Medical Birth Register and the Danish National Patient Register (NPR). PATIENT(S): All...

  3. Posner-Schlossman syndrome in an adult Nigerian male | Dawodu ...

    African Journals Online (AJOL)

    A case of Posner-Schlossman syndrome in an adult Nigerian male is reported. The patient presented at the eye clinic of Irrua Specialist Teaching Hospital in March 1999 with blurring of vision, seeing halos around light, and redness of the right eye. The intraocular pressure in both eyes was high and there were fine keratic ...

  4. Clinical care of adult Turner syndrome--new aspects

    DEFF Research Database (Denmark)

    Trolle, Christian; Mortensen, Kristian Havmand; Hjerrild, Britta Eilersen

    2012-01-01

    Turner syndrome (TS) is characterized by numerous medical challenges during adolescence and adulthood. Puberty has to be induced in most cases, and female sex hormone replacement therapy (HRT) should continue during adult years. These issues are normally dealt with by the paediatrician, but once...

  5. Fanconi anemia proteins and endogenous stresses

    International Nuclear Information System (INIS)

    Pang Qishen; Andreassen, Paul R.

    2009-01-01

    Each of the thirteen identified Fanconi anemia (FA) genes is required for resistance to DNA interstrand crosslinking agents, such as mitomycin C, cisplatin, and melphalan. While these agents are excellent tools for understanding the function of FA proteins in DNA repair, it is uncertain whether a defect in the removal of DNA interstrand crosslinks (ICLs) is the basis for the pathophysiology of FA. For example, DNA interstrand crosslinking agents induce other types of DNA damage, in addition to ICLs. Further, other DNA-damaging agents, such as ionizing or ultraviolet radiation, activate the FA pathway, leading to monoubiquitination of FANCD2 and FANCI. Also, FA patients display congenital abnormalities, hematologic deficiencies, and a predisposition to cancer in the absence of an environmental source of ICLs that is external to cells. Here we consider potential sources of endogenous DNA damage, or endogenous stresses, to which FA proteins may respond. These include ICLs formed by products of lipid peroxidation, and other forms of oxidative DNA damage. FA proteins may also potentially respond to telomere shortening or replication stress. Defining these endogenous sources of DNA damage or stresses is critical for understanding the pathogenesis of deficiencies for FA proteins. We propose that FA proteins are centrally involved in the response to replication stress, including replication stress arising from oxidative DNA damage.

  6. Fanconi anemia proteins and endogenous stresses

    Energy Technology Data Exchange (ETDEWEB)

    Pang Qishen [Division of Experimental Hematology and Cancer Biology, Cincinnati Children' s Research Foundation, Cincinnati, OH (United States); Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, OH (United States); Andreassen, Paul R., E-mail: Paul.Andreassen@cchmc.org [Division of Experimental Hematology and Cancer Biology, Cincinnati Children' s Research Foundation, Cincinnati, OH (United States); Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, OH (United States)

    2009-07-31

    Each of the thirteen identified Fanconi anemia (FA) genes is required for resistance to DNA interstrand crosslinking agents, such as mitomycin C, cisplatin, and melphalan. While these agents are excellent tools for understanding the function of FA proteins in DNA repair, it is uncertain whether a defect in the removal of DNA interstrand crosslinks (ICLs) is the basis for the pathophysiology of FA. For example, DNA interstrand crosslinking agents induce other types of DNA damage, in addition to ICLs. Further, other DNA-damaging agents, such as ionizing or ultraviolet radiation, activate the FA pathway, leading to monoubiquitination of FANCD2 and FANCI. Also, FA patients display congenital abnormalities, hematologic deficiencies, and a predisposition to cancer in the absence of an environmental source of ICLs that is external to cells. Here we consider potential sources of endogenous DNA damage, or endogenous stresses, to which FA proteins may respond. These include ICLs formed by products of lipid peroxidation, and other forms of oxidative DNA damage. FA proteins may also potentially respond to telomere shortening or replication stress. Defining these endogenous sources of DNA damage or stresses is critical for understanding the pathogenesis of deficiencies for FA proteins. We propose that FA proteins are centrally involved in the response to replication stress, including replication stress arising from oxidative DNA damage.

  7. Serum uric acid and metabolic syndrome in Taiwanese adults.

    Science.gov (United States)

    Liu, Pei-Wen; Chang, Tsui-Yen; Chen, Jong-Dar

    2010-06-01

    A positive association between serum uric acid and metabolic syndrome has been reported, but little information is available about the association between serum uric acid and metabolic syndrome in Taiwanese adults. The purpose of this study was to investigate the association between serum uric acid levels and metabolic syndrome in Taiwanese adults. We performed a cross-sectional study of 2085 men and 1557 women. All of the participants underwent a health screening during the period from January 2005 to December 2005 at a health center of the Shin Kong Wu Ho-Su Memorial Hospital. Metabolic syndrome was defined according to the National Cholesterol Education Program Adult Treatment Panel III criteria. The results showed that hyperuricemia was significantly associated with increased risk for hypertriglyceridemia, low high-density lipoprotein cholesterol level, and high blood pressure in men and women. The risk of metabolic syndrome was significantly higher in the fourth quartile than in the first quartile of uric acid level in men (odds ratio [OR], 1.50; 95% confidence interval [CI], 1.06-2.14) and women (OR, 2.33; 95% CI, 1.39-3.93). In addition, uric acid level was inversely associated with hyperglycemia in men. The ORs of hyperglycemia for the second, third, and fourth quartile of uric acid were 0.69 (95% CI, 0.46-1.03), 0.55 (95% CI, 0.37-0.83), and 0.45 (95% CI, 0.29-0.69), respectively, compared with the lowest quartile of uric acid. The results demonstrate that there is a positive association between serum uric acid levels and metabolic syndrome and an inverse association between uric acid and fasting plasma glucose in Taiwanese adults. Copyright 2010 Elsevier Inc. All rights reserved.

  8. Prune belly syndrome in an adult Nigerian: case report.

    Science.gov (United States)

    Salako, A A; Takure, A O; Olajide, A O; Aarowolo, O A; Egberongbe, A A

    2009-12-01

    Prune Belly Syndrome is a rare congenital anomaly characterized by deficient anterior abdominal wall musculature, bilateral cryptorchidism, bilateral megaureters and often unilateral or bilateral vesico-ureteric junction obstruction. The report of prune belly syndrome in the adult is scanty. We report a case of prune belly syndrome in a 24 year old Nigerian who presented with 3 year history of recurrent right loin pain. Examination showed wrinkled abdominal skin, bilateral undescended testes and an hypoplastic rectus abdominis, below the umbilicus. Further evaluation revealed enlarged bladder, bilateral megaureters and right intra-abdominal testis. A diagnosis of Prune Belly Syndrome was made. The challenges in the diagnosis and management of this rare condition are highlighted in this presentation.

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

    Science.gov (United States)

    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 metabolic syndrome score ( p 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.

  10. Hyperleptinemia, Adiposity, and Risk of Metabolic Syndrome in Older Adults

    Directory of Open Access Journals (Sweden)

    Suruchi Mishra

    2013-01-01

    Full Text Available Background. Abdominal adiposity and serum leptin increase with age as does risk of metabolic syndrome. This study investigates the prospective association between leptin and metabolic syndrome risk in relation to adiposity and cytokines. Methods. The Health, Aging, and Body Composition study is a prospective cohort of older adults aged 70 to 79 years. Baseline measurements included leptin, cytokines, BMI, total percent fat, and visceral and subcutaneous fat. Multivariate logistic regression was used to determine the association between leptin and metabolic syndrome (defined per NCEP ATP III incidence after 6 years of follow-up among 1,120 men and women. Results. Leptin predicted metabolic syndrome in men (P for trend = 0.0002 and women (P for trend = 0.0001. In women, risk of metabolic syndrome increased with higher levels of leptin (compared with quintile 1, quintile 2 RR = 3.29, CI = 1.36, 7.95; quintile 3 RR = 3.25, CI = 1.33, 7.93; quintile 4 RR = 5.21, CI = 2.16, 12.56; and quintile 5 RR = 7.97, CI = 3.30, 19.24 after adjusting for potential confounders. Leptin remained independently associated with metabolic syndrome risk after additional adjustment for adiposity, cytokines, and CRP. Among men, this association was no longer significant after controlling for adiposity. Conclusion. Among older women, elevated concentrations of leptin may increase the risk of metabolic syndrome independent of adiposity and cytokines.

  11. Juvenile Fibromyalgia: Different from the Adult Chronic Pain Syndrome?

    Science.gov (United States)

    Kashikar-Zuck, Susmita; King, Christopher; Ting, Tracy V; Arnold, Lesley M

    2016-04-01

    While a majority of research has focused on adult fibromyalgia (FM), recent evidence has provided insights into the presence and impact of FM in children and adolescents. Commonly referred as juvenile fibromyalgia (JFM), youths, particularly adolescent girls, present with persistent widespread pain and cardinal symptoms observed in adult FM. A majority of youth with JFM continue to experience symptoms into adulthood, which highlights the importance of early recognition and intervention. Some differences are observed between adult and juvenile-onset FM syndrome with regard to comorbidities (e.g., joint hypermobility is common in JFM). Psychological comorbidities are common but less severe in JFM. Compared to adult FM, approved pharmacological treatments for JFM are lacking, but non-pharmacologic approaches (e.g., cognitive-behavioral therapy and exercise) show promise. A number of conceptual issues still remain including (1) directly comparing similarities and differences in symptoms and (2) identifying shared and unique mechanisms underlying FM in adults and youths.

  12. Adults with Down syndrome: characterization of a Portuguese sample.

    Science.gov (United States)

    Breia, Paula; Mendes, Rosário; Silvestre, Ana; Gonçalves, Maria Joao; Figueira, Maria Joao; Bispo, Regina

    2014-01-01

    Down syndrome or Trisomy 21 affects physical, behavioral and cognitive development. Ageing people with Down syndrome may suffer from several comorbidities that interfere with their daily life. To analyze in a sample of adults with Down syndrome the presence of common medical diseases, regular use of medication, possible cognitive impairment and oral communication skills. The socio-demographic and clinical data of 209 Portuguese adults (20-58 years) with Down syndrome were collected. Twenty-six subjects were assessed with the WAIS-III. Data was statistically analyzed--SPSS (v.19). Almost half (47.36%) of the sample suffers from comorbidities, with cardiac, psychiatric, epilepsy and hypothyroidism ranked as the most prevalent diseases. Seventy-two patients (34.45%) take medication that acts on the central nervous system. The WAIS-III results revealed IQ scores between 45-61 (mean = 49.65, SD = 4.93) and 141 individuals (67.5%) who can express themselves through basic oral language. In line with other studies, these individuals are vulnerable to various comorbidities. Most have basic oral language, but the IQ values are in the 'extremely low' range, with better performance on verbal tasks. The cognitive constraints and communication difficulties in the population with Down syndrome may difficult the early clinical recognition of comorbidities associated with ageing. The identification of new semiology, with caregiver support, is essential to ensure that appropriate care is provided to this population.

  13. Differential outcomes effect in children and adults with down syndrome.

    Science.gov (United States)

    Estévez, Angeles F; Fuentes, Luis J; Overmier, J Bruce; González, Carmen

    2003-03-01

    In previous studies, researchers have demonstrated that learning of symbolic relations is facilitated when a particular outcome is associated with each relation to be learned. In the present study, we extend this differential outcomes procedure to children and adults with Down syndrome who had to learn a symbolic conditional discrimination task. Participants showed a better terminal accuracy and a faster learning of the task when the alternative correct responses were each followed by unique different outcomes than when nondifferential outcomes were arranged. These findings confirm that the differential outcomes procedure can be a useful tool to ameliorate discriminative learning deficits and demonstrate the benefits of this procedure for people with Down syndrome.

  14. Hereditary Predispositions to Myelodysplastic Syndrome

    Directory of Open Access Journals (Sweden)

    Sarah A. Bannon

    2016-05-01

    Full Text Available Myelodysplastic syndromes (MDS are heterogeneous clonal hematopoietic disorders characterized by ineffective hematopoiesis, bone marrow dysplasia, and peripheral cytopenias. Familial forms of MDS have traditionally been considered rare, especially in adults; however, the increasing availability of somatic and germline genetic analyses has identified multiple susceptibility loci. Bone marrow failure syndromes have been well-described in the pediatric setting, e.g., Fanconi anemia (FA, dyskeratosis congenita (DC, Diamond–Blackfan anemia (DBA, and Shwachman–Diamond syndrome (SBS, hallmarked by clinically-recognizable phenotypes (e.g., radial ray anomalies in FA and significantly increased risks for MDS and/or acute myeloid leukemia (AML in the setting of bone marrow failure. However, additional families with multiple cases of MDS or AML have long been reported in the medical literature with little known regarding potential hereditary etiologies. Over the last decade, genomic investigation of such families has revealed multiple genes conferring inherited risks for MDS and/or AML as the primary malignancy, including RUNX1, ANKRD26, DDX41, ETV6, GATA2, and SRP72. As these syndromes are increasingly appreciated in even apparently de novo presentations of MDS, it is important for hematologists/oncologists to become familiar with these newly-described syndromes. Herein, we provide a review of familial MDS syndromes and practical aspects of management in patients with predisposition syndromes.

  15. Fanconi anaemia in South African patients with Afrikaner ancestry ...

    African Journals Online (AJOL)

    Background. Fanconi anaemia (FA) is a rare genetic disorder of impaired DNA repair that results in physical and haematological consequences in affected individuals. In South Africa (SA), individuals with Afrikaner ancestry are at an increased risk of inheriting disease-causing FA mutations, owing to the three common ...

  16. Multiple TPR motifs characterize the Fanconi anemia FANCG protein.

    NARCIS (Netherlands)

    Blom, E.; Vrugt, van der H.J.; Vries, de Y.; Winter, de J.P.; Arwert, F.; Joenje, H.

    2004-01-01

    The genome protection pathway that is defective in patients with Fanconi anemia (FA) is controlled by at least eight genes, including BRCA2. A key step in the pathway involves the monoubiquitylation of FANCD2, which critically depends on a multi-subunit nuclear 'core complex' of at least six FANC

  17. An atypical case of Fanconi anemia in elderly sibs

    NARCIS (Netherlands)

    Kwee, ML; vanderKleij, JM; vanEssen, AJ; Begeer, JH; Joenje, H; Arwert, F; tenKate, LP

    1997-01-01

    We describe a 56-year-old woman suspected of Fanconi anemia on the basis of the following clinical findings: microcephaly, short stature, congenital deafness, and the clinical findings in her deceased brother. Hematologic or other signs of malignancy were absent. The diagnosis was confirmed by

  18. Allergic bronchopulmonary aspergillosis in an adult with Kartagener syndrome.

    Science.gov (United States)

    Sehgal, Inderpaul Singh; Dhooria, Sahajal; Bal, Amanjit; Agarwal, Ritesh

    2015-08-06

    Allergic bronchopulmonary aspergillosis (ABPA) is a pulmonary disorder resulting from immune responses directed against inhaled Aspergillus fumigatus antigens. It manifests with poorly controlled asthma, fleeting pulmonary opacities and structural lung damage in the form of bronchiectasis. Initially defined in individuals suffering from bronchial asthma and cystic fibrosis, it has also been described in patients with other structural lung disorders such as chronic obstructive pulmonary disease, pulmonary tuberculosis, idiopathic bronchiectasis and others. Kartagener syndrome is a manifestation of primary ciliary dyskinesia characterised by the presence of dextrocardia, bronchiectasis and chronic sinusitis. We report a case of ABPA in an adult suffering from Kartagener syndrome. We also performed a systematic review of the literature on the association between Kartagener syndrome and ABPA. 2015 BMJ Publishing Group Ltd.

  19. Patients with Fanconi anemia and AML have different cytogenetic clones than de novo cases of AML.

    Science.gov (United States)

    Rochowski, Andrzej; Olson, Susan B; Alonzo, Todd A; Gerbing, Robert B; Lange, Beverly J; Alter, Blanche P

    2012-11-01

    Specific cytogenetic clones might distinguish patients with unrecognized Fanconi anemia (FA) who present with acute myeloid leukemia (AML) from those with sporadic AML. Cytogenetic reports in literature cases of FA and AML were compared with de novo cases enrolled on CCG-2961. Gain of 1q, gain of 3q, monosomy 7, deleted 7q, gain of 13q, and deleted 20q were more frequent in FA AML; t(8;21), trisomy 8, t(9;11), t(6;9), and inversion 16 were exclusive to de novo AML cases. Observation of the FA AML cytogenetic clonal patterns should raise suspicion of an underlying leukemia predisposition syndrome and influence management. Copyright © 2012 Wiley Periodicals, Inc. This article is a U.S. Government work and is in the public domain in the USA.

  20. Expressive Language Profiles of Verbally Expressive Adolescents and Young Adults with Down Syndrome or Fragile X Syndrome

    Science.gov (United States)

    Finestack, Lizbeth H.; Abbeduto, Leonard

    2010-01-01

    Purpose: In this study, the authors examined the expressive language abilities of a subset of highly verbally expressive adolescents and young adults with Down syndrome (DS) and those with fragile X syndrome (FXS) for evidence of syndrome-related differences. FXS gender differences were also examined in an exploratory fashion. Method: The authors…

  1. [Eye contact in adult patients with Asperger syndrome].

    Science.gov (United States)

    Roy, M; Wolfgang, D

    2015-05-01

    It is unclear if individuals with autism spectrum disorders rarely hold direct eye contact because eyes are unimportant for them, or if it is actively avoided. The aim of the current investigation was to gain a better understanding for their views on direct eye contact by exploring adult patients with Asperger syndrome. 63 adult patients with Asperger syndrome (28 females, 35 males, 21 - 62 years old) were explored about using and sensing direct eye contact by means of a standardised questionnaire. 87 % of investigated patients depict direct eye contact as being disagreeable. They describe it as arduous and distracting. Therefore they mostly actively avoid direct eye contact. The here gained knowledge about aversion towards direct eye contact in individuals with autism should lead to a stronger understanding and acceptance of this problem in the non-autistic population. © Georg Thieme Verlag KG Stuttgart · New York.

  2. Acquired heterochromia with horner syndrome in two adults.

    Science.gov (United States)

    Diesenhouse, M C; Palay, D A; Newman, N J; To, K; Albert, D M

    1992-12-01

    Heterochromia iridis, asymmetry of iris pigmentation, has been well described with congenital Horner syndrome. Acquired heterochromia associated with lesions in the ocular sympathetic pathways in adulthood, however, is rare. Two cases are reported in which sympathectomy in adults resulted in ipsilateral Horner syndrome with heterochromia. In each case, pharmacologic testing with cocaine and hydroxyamphetamine was performed. In both cases, sympathectomy occurred at the level of the second order neuron, but hydroxyamphetamine testing suggested at least partial third order neuron involvement. Acquired heterochromia can occur in adults. The partial response to hydroxyamphetamine in the two cases presented may reflect trans-synaptic degeneration of the postganglionic neuron. A reduction in trophic influences on iris melanocytes may have contributed to the observed heterochromia.

  3. Randomized trial of behavior therapy for adults with Tourette syndrome.

    Science.gov (United States)

    Wilhelm, Sabine; Peterson, Alan L; Piacentini, John; Woods, Douglas W; Deckersbach, Thilo; Sukhodolsky, Denis G; Chang, Susanna; Liu, Haibei; Dziura, James; Walkup, John T; Scahill, Lawrence

    2012-08-01

    Tics in Tourette syndrome begin in childhood, peak in early adolescence, and often decrease by early adulthood. However, some adult patients continue to have impairing tics. Medications for tics are often effective but can cause adverse effects. Behavior therapy may offer an alternative but has not been examined in a large-scale controlled trial in adults. To test the efficacy of a comprehensive behavioral intervention for tics in adults with Tourette syndrome of at least moderate severity. A randomized controlled trial with posttreatment evaluations at 3 and 6 months for positive responders. Three outpatient research clinics. Patients (N = 122; 78 males; age range, 16-69 years) with Tourette syndrome or chronic tic disorder were recruited between December 27, 2005, and May 21, 2009. Patients received 8 sessions of comprehensive behavioral intervention for tics or 8 sessions of supportive treatment for 10 weeks. Patients with a positive response were given 3 monthly booster sessions. Total tic score on the Yale Global Tic Severity Scale and the Clinical Global Impression-Improvement scale rated by a clinician masked to treatment assignment. Behavior therapy was associated with a significantly greater mean (SD) decrease on the Yale Global Tic Severity Scale (24.0 [6.47] to 17.8 [7.32]) from baseline to end point compared with the control treatment (21.8 [6.59] to 19.3 [7.40]) (P < .001; effect size = 0.57). Twenty-four of 63 patients (38.1%) were rated as much improved or very much improved on the Clinical Global Impression-Improvement scale compared with 4 of 63 (6.4%) in the control group (P < .001). Attrition was 13.9%, with no difference across groups. Patients receiving behavior therapy who were available for assessment at 6 months after treatment showed continued benefit. Comprehensive behavior therapy is a safe and effective intervention for adults with Tourette syndrome. clinicaltrials.gov Identifier: NCT00231985.

  4. Maladaptive and Compulsive Behavior in Prader-Willi Syndrome: New Insights from Older Adults

    Science.gov (United States)

    Dykens, Elisabeth M.

    2004-01-01

    Although maladaptive and compulsive behaviors are increasingly well-described in young persons with Prader-Willi syndrome, it is unclear how these problems manifest in older adults with this syndrome. In Part I, I compared maladaptive and compulsive behaviors in 45 older adults with Prader-Willi syndrome (ages 30 to 50 years) to 195 children,…

  5. Family Environment and Behavior Problems in Children, Adolescents, and Adults with Fragile X Syndrome

    Science.gov (United States)

    Greenberg, Jan S.; Seltzer, Marsha Mailick; Baker, Jason K.; Smith, Leann E.; Warren, Steven F.; Brady, Nancy; Hong, Jinkuk

    2012-01-01

    We examine how the family environment is associated with aspects of the Fragile X syndrome phenotype during childhood, adolescence, and adulthood. Mothers of children (n = 48), adolescents (n = 85), and adults (n = 34) with Fragile X syndrome participated in a multisite study. For children and adults with Fragile X syndrome, the presence of warmth…

  6. Tics and Tourette syndrome: an adult perspective.

    Science.gov (United States)

    Galvez-Jimenez, Nestor

    2012-07-01

    Tourette syndrome (TS) is a disorder characterized by childhood onset multiple motor and vocal tics often accompanied by features of obsessive compulsive disorder, attention deficit hyperactivity disorder (ADHD), or other behavioral manifestations. Tics may be simple or complex, and may include motor and vocal components. Abnormal function of the basal ganglia is thought to be an important underlying cause of tics and other movement disorders. Treatment of TS requires a thorough understanding of the phenomenology of the disease for the individual patient, and should focus on symptoms that are especially troubling. Some nonpharmacologic approaches may help to improve tic severity, including conditioning techniques, relaxation training, and hypnosis. Options for pharmacotherapy include dopamine blockers and depleters, benzodiazepines, central alpha-adrenergic blockers, and botulinum toxin. Many patients require therapy for comorbid conditions such as anxiety, depression, or ADHD. In case studies and small patient series, deep brain stimulation has been shown to markedly reduce tic severity and functional impairment associated with TS. While onset is most frequently in childhood, TS should not be considered exclusively a disorder of pediatric patients. The complications and comorbidities that are encountered in children and adolescents often persist into adulthood.

  7. Adults and Children with Asperger Syndrome: Exploring Adult Attachment Style, Marital Satisfaction and Satisfaction with Parenthood

    Science.gov (United States)

    Lau, Winnie; Peterson, Candida C.

    2011-01-01

    Asperger syndrome (AS) is a disorder resembling autism in its problems with social interaction and cognitive flexibility. Today, a number of adults with AS marry and rear children. Yet there has been little research into the quality of their marital and parental relationships. This study explored romantic attachment style, marital satisfaction and…

  8. Addressing social skills deficits in adults with Williams syndrome.

    Science.gov (United States)

    Fisher, Marisa H; Morin, Lindsay

    2017-12-01

    Individuals with Williams syndrome (WS) are hypersocial; yet, they experience social difficulties and trouble with relationships. This report summarizes findings from three studies examining the social functioning of adults with WS and the feasibility of a social skills training program for adults with WS (SSTP-WS) through the examination of performance on initial lesson plans. Study 1: 114 parents of adults with WS completed the Social Responsiveness Scale-2. Study 2: 10 adults with WS and 12 of their parents participated in focus groups to further describe the deficits identified in Study 1 and to discuss a SSTP-WS. Study 3: 30 adults with WS were randomly assigned to 2 lessons on either conversations or relationships and pre-post change in social skills knowledge was assessed. Study 1 indicates adults with WS experience severe social impairments in social cognition, and mild-moderate impairments in social awareness and social communication. Qualitative results in Study 2 indicate a SSTP-WS should address conversation skills and relationships. In Study 3, participants showed gains in social skills knowledge following completion of lessons. A SSTP-WS may be beneficial for adults with WS. Future research should describe the social needs of individuals with WS at different ages and should further develop a SSTP-WS. Copyright © 2017 Elsevier Ltd. All rights reserved.

  9. Hematological abnormalities in adult patients with Down's syndrome.

    LENUS (Irish Health Repository)

    McLean, S

    2012-02-01

    BACKGROUND: There is a paucity of data regarding hematological abnormalities in adults with Down\\'s syndrome (DS). AIMS: We aimed to characterize hematological abnormalities in adult patients with DS and determine their long-term significance. METHODS: We retrospectively studied a cohort of nine DS patients referred to the adult hematology service in our institution between May 2001 and April 2008. Data collected were: full blood count (FBC), comorbidities, investigations performed, duration of follow-up and outcome to most recent follow-up. RESULTS: Median follow-up was 26 months (9-71). Of the nine patients, two had myelodysplastic syndrome (MDS) at presentation. Of these, one progressed, with increasing marrow failure, and requiring support with transfusions and gCSF. The remaining eight patients, with a variety of hematological abnormalities including leukopenia, macrocytosis, and thrombocytopenia, had persistently abnormal FBCs. However there was no evidence of progression, and no patient has evolved to acute myeloid leukemia (AML). CONCLUSIONS: MDS is a complication of DS and may require supportive therapy. However, minor hematological abnormalities are common in adult DS patients, and may not signify underlying marrow disease.

  10. Dietary patterns are associated with metabolic syndrome in adult Samoans.

    Science.gov (United States)

    DiBello, Julia R; McGarvey, Stephen T; Kraft, Peter; Goldberg, Robert; Campos, Hannia; Quested, Christine; Laumoli, Tuiasina Salamo; Baylin, Ana

    2009-10-01

    The prevalence of metabolic syndrome has reached epidemic levels in the Samoan Islands. In this cross-sectional study conducted in 2002-2003, dietary patterns were described among American Samoan (n = 723) and Samoan (n = 785) adults (> or =18 y) to identify neo-traditional and modern eating patterns and to relate these patterns to the presence of metabolic syndrome using Adult Treatment Panel III criteria. The neo-traditional dietary pattern, similar across both polities, was characterized by high intake of local foods, including crab/lobster, coconut products, and taro, and low intake of processed foods, including potato chips and soda. The modern pattern, also similar across both polities, was characterized by high intake of processed foods such as rice, potato chips, cake, and pancakes and low intake of local foods. The neo-traditional dietary pattern was associated with significantly higher serum HDL-cholesterol in American Samoa (P-trend = 0.05) and a decrease in abdominal circumference in American Samoa and Samoa (P-trend = 0.004 and 0.01, respectively). An inverse association was found with metabolic syndrome, although it did not reach significance (P = 0.23 in American Samoa; P = 0.13 in Samoa). The modern pattern was significantly positively associated with metabolic syndrome in Samoa (prevalence ratio = 1.21 for the fifth compared with first quintile; 95% CI: 0.93.1.57; P-trend = 0.05) and with increased serum triglyceride levels in both polities (P fiber, seafood, and coconut products may help to prevent growth in the prevalence of metabolic syndrome in the Samoan islands.

  11. CLINICO PATHOLOGICAL STUDY OF NEPHROTIC SYNDROME IN ADULTS

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    Deepa

    2015-11-01

    Full Text Available CONTEXT: Etiology of nephrotic syndrome (NS in adults varies depending on the geographical location and is poorly studied in the Indian subcontinent. AIMS: To study the clinical features, biochemical profile and histopathological pattern of various types of glomerulonephritis in adult patients with nephrotic syndrome. METHODS AND MATERIAL: Patients (≥15 years old with nephrotic syndrome presenting to our center and undergoing a kidney biopsy from May 2009 to August 2011 were included for this study. All biopsies were subjected to light microscopy.The histopathological spectrum was analyzed according to the various clinical parameters. STATISTICAL ANALYSIS USED: Analysis was performed using SPSS software version 19.Measures obtained included percentages,medians,correlation coefficients and chi square tests. RESULTS: A total of 50 kidney biopsies were included in analysis. Twenty six(52% patients were male and twenty four(48% patients were female. The average age at presentation was 15-24 years. Among the patients, 22(44% were diagnosed with primary glomerular diseases (PGD and 4(8% with secondary glomerular diseases (SGD. The most common histological lesions was membranous nephropathy(24.4% followed by minimal change disease (MCD (17% and membranous nephropathy (MN (17%. The most common form of SGD was lupus nephritis (LN (10%. Membranous nephropathy and focal segmental glomerulosclerosis were the commonest lesions in males.Among females,membranous nephropathy was the commonest. 31(62% patients were in the age group of 15-34 yrs, 17(34% were in the age group 34- 54yrs and only 2(4% were aged above 55yrs. Among the patients, 6(12% had serum creatinine ≥1.5 mg/dL and 12(24% had either macroscopic or microscopic hematuria. CONCLUSIONS: Membranous nephropathy is still the commonest type of nephrotic syndrome in adults followed closely by focal segmental glomerulosclerosis and minimal change disease as per this study.

  12. The tethered cord syndrome in adults with spina bifida occulta.

    Science.gov (United States)

    Lapsiwala, Samir B; Iskandar, Bermans J

    2004-10-01

    The management of adult-onset tethered cord syndrome (TCA) remains controversial, although the necessity of early surgery in children with TCS is well established. In this paper, we review the major publications that discuss the congenital tethered spinal cord (spina bifida occulta) presenting in adulthood. Data concerning acquired tethered cord from prior myelomeningocele repair were excluded. TCS in adults is an uncommon entity that can become symptomatic. The long-term surgical outcome after tethered cord release in this patient population is generally favorable, as most patients report improvement or stabilization of their symptoms. In addition, the overall post-operative complication rate is low. Although special consideration should be given to older patients with a poor general medical condition, it seems reasonable to recommend early surgical treatment in both symptomatic and asymptomatic adults.

  13. The Sirt1 activator SRT3025 expands hematopoietic stem and progenitor cells and improves hematopoiesis in Fanconi anemia mice

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    Qing-Shuo Zhang

    2015-07-01

    Full Text Available Fanconi anemia is a genetic bone marrow failure syndrome. The current treatment options are suboptimal and do not prevent the eventual onset of aplastic anemia requiring bone marrow transplantation. We previously showed that resveratrol, an antioxidant and an activator of the protein deacetylase Sirt1, enhanced hematopoiesis in Fancd2 mutant mice and improved the impaired stem cell quiescence observed in this disease. Given that Sirt1 is important for the function of hematopoietic stem cells, we hypothesized that Sirt1 activation may improve hematopoiesis. Indeed, Fancd2−/− mice and wild-type mice treated with the selective Sirt1 activator SRT3025 had increased numbers of hematopoietic stem and progenitor cells, platelets and white blood cells. SRT3025 was also protective against acetaldehyde-induced hematopoietic damage. Unlike resveratrol, however, SRT3025 did not affect stem cell quiescence, suggesting distinct mechanisms of action. Conditional deletion of Sirt1 in hematopoietic cells did not abrogate the beneficial effects of SRT3025, indicating that the drug did not act by directly stimulating Sirt1 in stem cells, but must be acting indirectly via extra-hematopoietic effects. RNA-Seq transcriptome analysis revealed the down-regulation of Egr1–p21 expression, providing a potential mechanism for improved hematopoiesis. Overall, our data indicate that SRT3025 or related compounds may be beneficial in Fanconi anemia and other bone marrow failure syndromes.

  14. Recent Treatment Advances and New Trials in Adult Nephrotic Syndrome

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    Eva Königshausen

    2017-01-01

    Full Text Available The etiology of nephrotic syndrome is complex and ranges from primary glomerulonephritis to secondary forms. Patients with nephrotic syndrome often need immunosuppressive treatment with its side effects and may progress to end stage renal disease. This review focuses on recent advances in the treatment of primary causes of nephrotic syndrome (idiopathic membranous nephropathy (iMN, minimal change disease (MCD, and focal segmental glomerulosclerosis (FSGS since the publication of the KDIGO guidelines in 2012. Current treatment recommendations are mostly based on randomized controlled trials (RCTs in children, small RCTs, or case series in adults. Recently, only a few new RCTs have been published, such as the Gemritux trial evaluating rituximab treatment versus supportive antiproteinuric and antihypertensive therapy in iMN. Many RCTs are ongoing for iMN, MCD, and FSGS that will provide further information on the effectiveness of different treatment options for the causative disease. In addition to reviewing recent clinical studies, we provide insight into potential new targets for the treatment of nephrotic syndrome from recent basic science publications.

  15. Classification System for Individualized Treatment of Adult Buried Penis Syndrome.

    Science.gov (United States)

    Tausch, Timothy J; Tachibana, Isamu; Siegel, Jordan A; Hoxworth, Ronald; Scott, Jeremy M; Morey, Allen F

    2016-09-01

    The authors present their experience with reconstructive strategies for men with various manifestations of adult buried penis syndrome, and propose a comprehensive anatomical classification system and treatment algorithm based on pathologic changes in the penile skin and involvement of neighboring abdominal and/or scrotal components. The authors reviewed all patients who underwent reconstruction of adult buried penis syndrome at their referral center between 2007 and 2015. Patients were stratified by location and severity of involved anatomical components. Procedures performed, demographics, comorbidities, and clinical outcomes were reviewed. Fifty-six patients underwent reconstruction of buried penis at the authors' center from 2007 to 2015. All procedures began with a ventral penile release. If the uncovered penile skin was determined to be viable, a phalloplasty was performed by anchoring penoscrotal skin to the proximal shaft, and the ventral shaft skin defect was closed with scrotal flaps. In more complex patients with circumferential nonviable penile skin, the penile skin was completely excised and replaced with a split-thickness skin graft. Complex patients with severe abdominal lipodystrophy required adjacent tissue transfer. For cases of genital lymphedema, the procedure involved complete excision of the lymphedematous tissue, and primary closure with or without a split-thickness skin graft, also often involving the scrotum. The authors' overall success rate was 88 percent (49 of 56), defined as resolution of symptoms without the need for additional procedures. Successful correction of adult buried penis often necessitates an interdisciplinary, multimodal approach. Therapeutic, IV.

  16. The perception of friendship in adults with Down syndrome.

    Science.gov (United States)

    Watt, K J; Johnson, P; Virji-Babul, N

    2010-11-01

    Measuring the perception of friendship in adults with Down syndrome (DS) has long been a research challenge. While there have been studies investigating the number of friends children with DS have in, the study of how adults with DS view the concept of friendship has been relatively unexplored. The aim of this study was to evaluate the perception of friendship in adults with DS using a visually based scale. Sixty-six individuals participated in this study: 22 adults with DS, 22 typical mental age (MA) matched children and 22 typical adults matched for chronological age (CA). We administered a visually based Friendship scale made up of photographs depicting social interactions between individuals or groups. The scale was composed of two parts. In Part 1 participants were shown two photographs and asked to select the photograph that best depicted friends. In Part 2 participants were asked to view one photograph and asked, 'Is it okay for friends to do this?' Adults with DS scored lower on the Friendship scale in comparison with the CA and MA matched groups. Adults with DS made more errors in identifying 'friends' from 'non-friends' but were equally able to distinguish friendly behaviours and actions from non-friendly behaviours as their CA and MA matched peers. Individuals with DS were more likely to incorrectly identify photographs depicting a teacher, or a mother with a child as friends. Actions or behaviours that depicted subtle negative emotions were also incorrectly identified. These results are an important first step in understanding the perception of friendship and social behaviours related to friendship in adults with DS. © 2010 The Authors. Journal of Intellectual Disability Research © 2010 Blackwell Publishing Ltd.

  17. Fanconi anaemia in black South African patients heterozygous for ...

    African Journals Online (AJOL)

    T Wainstein,1 MSc (Med); R Kerr,1 PhD; C L Mitchell,1 MSc (Med);S Madaree,1 BSc (Hons); F B Essop,1 MSc (Med); E Vorster,1 BSc. (Hons); R Wainwright,2 MB BCh; J Poole,3 MB BCh; A Krause,1 MB BCh, PhD ..... Grompe M, D'Andrea AD. Fanconi anaemia and DNA repair. Hum Mol Genet 2001;10(20)2253-2259.

  18. Acute coronary syndrome after levamisole-adultered cocaine abuse.

    Science.gov (United States)

    Michaud, Katarzyna; Grabherr, Silke; Shiferaw, Kebede; Doenz, Franceso; Augsburger, Marc; Mangin, Patrice

    2014-01-01

    Cocaine is a well known trigger of acute coronary syndromes. Over the last 10 years levamisole, a veterinary anthelminthic drug has been increasingly used as an adulterant of cocaine. Levamisole was used to treat pediatric nephritic syndrome and rheumatoid arthritis before being withdrawn from the market due to its significant toxicity, i.e. hematological complications and vasculitis. The major complications of levamisole-adultered cocaine reported up to now are hematological and dermatological. The case reported here is of a 25 year old man with a history of cocaine abuse who died at home after complaining of retrosternal pain. Postmortem CT-angiography, autopsy, and chemical and toxicological analyses were performed. An eroded coronary artery plaque was found at the proximal segment of the left anterior descending coronary artery. Two myocardial infarct scars were present in the left ventricle. Microscopic examination of the coronary artery revealed infiltration of eosinophils into the adventitia and intima. Toxicological examination confirmed the presence of cocaine and its metabolites in the peripheral blood, and of levamisole in the urine and pericardial fluid. Eosinophilic inflammatory coronary artery pathologies have been clinically linked to coronary dissection, hypersensitivity coronary syndrome and vasospastic allergic angina. The coronary pathology in the presented case could be a complication of levamisole-adultered cocaine use, in which an allergic or immune-mediated mechanism might play a role. The rise in cocaine addiction worldwide and the increase of levamisole adulterated cocaine highlights the importance of updating our knowledge of the effects of adultered cocaine abuse. Copyright © 2013 Elsevier Ltd and Faculty of Forensic and Legal Medicine. All rights reserved.

  19. Childhood obesity affects adult metabolic syndrome and diabetes.

    Science.gov (United States)

    Liang, Yajun; Hou, Dongqing; Zhao, Xiaoyuan; Wang, Liang; Hu, Yuehua; Liu, Junting; Cheng, Hong; Yang, Ping; Shan, Xinying; Yan, Yinkun; Cruickshank, J Kennedy; Mi, Jie

    2015-09-01

    We seek to observe the association between childhood obesity by different measures and adult obesity, metabolic syndrome (MetS), and diabetes. Thousand two hundred and nine subjects from "Beijing Blood Pressure Cohort Study" were followed 22.9 ± 0.5 years in average from childhood to adulthood. We defined childhood obesity using body mass index (BMI) or left subscapular skinfold (LSSF), and adult obesity as BMI ≥ 28 kg/m(2). MetS was defined according to the joint statement of International Diabetes Federation and American Heart Association with modified waist circumference (≥ 90/85 cm for men/women). Diabetes was defined as fasting plasma glucose ≥ 7.0 mmol/L or blood glucose 2 h after oral glucose tolerance test ≥ 11.1 mmol/L or currently using blood glucose-lowering agents. Multiple linear and logistic regression models were used to assess the association. The incidence of adult obesity was 13.4, 60.0, 48.3, and 65.1 % for children without obesity, having obesity by BMI only, by LSSF only, and by both, respectively. Compared to children without obesity, children obese by LSSF only or by both had higher risk of diabetes. After controlling for adult obesity, childhood obesity predicted independently long-term risks of diabetes (odds ratio 2.8, 95 % confidence interval 1.2-6.3) or abdominal obesity (2.7, 1.6-4.7) other than MetS as a whole (1.2, 0.6-2.4). Childhood obesity predicts long-term risk of adult diabetes, and the effect is independent of adult obesity. LSSF is better than BMI in predicting adult diabetes.

  20. Intensive treatment of dysarthria in two adults with Down syndrome.

    Science.gov (United States)

    Mahler, Leslie A; Jones, Harrison N

    2012-01-01

    This study investigated the impact of an established behavioural dysarthria treatment on acoustic and perceptual measures of speech in two adults with Down syndrome (DS) and dysarthria to obtain preliminary measures of treatment effect, effect size and treatment feasibility. A single-subject A-B-A experimental design was used to measure the effects of the Lee Silverman Voice treatment (LSVT®) on speech in two adults with DS and dysarthria. Dependent measures included vocal sound pressure level (dB SPL), phonatory stability and listener intelligibility scores. Statistically significant improvements (p dysarthria can respond positively to intensive speech treatment such as LSVT. Further investigations are needed to develop speech treatments specific to DS.

  1. Growth Hormone Therapy in Adults with Prader-Willi Syndrome

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    Karen S. Vogt

    2015-04-01

    Full Text Available Prader-Willi syndrome (PWS is characterized by hyperphagia, obesity if food intake is not strictly controlled, abnormal body composition with decreased lean body mass and increased fat mass, decreased basal metabolic rate, short stature, low muscle tone, cognitive disability, and hypogonadism. In addition to improvements in linear growth, the benefits of growth hormone therapy on body composition and motor function in children with PWS are well established. Evidence is now emerging on the benefits of growth hormone therapy in adults with PWS. This review summarizes the current literature on growth hormone status and the use of growth hormone therapy in adults with PWS. The benefits of growth hormone therapy on body composition, muscle strength, exercise capacity, certain measures of sleep-disordered breathing, metabolic parameters, quality of life, and cognition are covered in detail along with potential adverse effects and guidelines for initiating and monitoring therapy.

  2. Macrostructural narrative language of adolescents and young adults with Down syndrome or fragile X syndrome.

    Science.gov (United States)

    Finestack, Lizbeth H; Palmer, Meghan; Abbeduto, Leonard

    2012-02-01

    To gain a better understanding of language abilities, the expressive macrostructural narrative language abilities of verbally expressive adolescents and young adults with Down syndrome (DS) and those with fragile X syndrome (FXS) were examined. The authors evaluated 24 adolescents and young adults with DS, 12 male adolescents and young adults with FXS, and 21 younger children with typical development (TD). Narrative samples were assessed at the macrostructural level using the narrative scoring scheme (Heilmann, Miller, Nockerts, & Dunaway, 2010). Three group comparisons were made using (a) the full sample matched on nonverbal mental age, (b) a subset of the participants individually matched on nonverbal mental age, and (c) a subset of participants individually matched on mean length of utterance. Study analyses revealed that the DS and FXS groups significantly outperformed the TD group on a limited number of narrative scoring scheme measures. No significant differences emerged between the DS and FXS groups. The study's results suggest that some aspects of macrostructural narrative language may be relative strengths for adolescents and young adults with DS and those with FXS. These results can be used to create more nuanced and informed approaches to assessment and intervention for these populations.

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

    Science.gov (United States)

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

    2012-01-01

    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 (n = 46). Fathers of sons or…

  4. Psychiatric disorders in adults with Rubinstein-Taybi syndrome

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    Reid, C.S.; Levitas, A.S. [Univ. of Medicine and Dentistry of New Jersey, Camden, NJ (United States)

    1994-09-01

    Rubinstein-Taybi syndrome (RTS) is a multiple anomaly/mental retardation syndrome currently mapped to 16p13.3 and characterized by microephaly, hypertelorism, downslanting palpebral fissures, curved nose, elongated nasal columelia and broad thumbs and great toes, often with medial or lateral angulation. Although there are reports of attentional problems and impulsivity among children with RTS there have been no studies to date of behavioral characteristics of the syndrome. Since 1988 we have identified 7 adults with classic RTS and psychiatric disorders among 1500 mentally retarded individuals ascertained primarily for behavioral and psychiatric problems; these patients all had microcephaly, characteristic facies and broad halluces, frequently with angulation. An additional 6 adults with psychiatric disorders had some features suggesting RTS but not classic for the disorder; these patients had microcephaly, characteristic nasal configuration and somewhat broad thumbs but lacked hypertelorism, downslant of palpebral fissures, angulation of halluces, and/or other dysmorphic features typical of classic RTS. Among the seven with classic RTS, three had tic disorder and/or Obsessive Compulsive Disorder, one had Bipolar Disorder with Psychotic Features and one had Major Depressive Disorder with obsessive-compulsive features. The six with some RTS features had similar psychiatric disorders. All patients were extremely sensitive to side effects of antidopaminergic medication, with the exception of clozapine. This clustering of psychiatric disorders and sensitivity suggests possible dysfunction of dopaminergic and serotonergic systems in at least some patients with RTS. The 16p13.3 region should be examined for possible genes affecting metabolism or receptors of these neurotransmitters.

  5. Receptive Language Skills of Adolescents and Young Adults with Down or Fragile X Syndrome.

    Science.gov (United States)

    Abbeduto, Leonard; Murphy, Melissa M.; Cawthon, Stephanie W.; Richmond, Erica K.; Weissman, Michelle D.; Karadottir, Selma; O'Brien, Anne

    2003-01-01

    This study compared the receptive language of adolescents and young adults with either Down syndrome (n=25), fragile X syndrome (n=19), or mental age matched typically developing children (n=24). Individuals with the syndromes differed in relative achievements across the domains of receptive vocabulary, receptive syntax, nonverbal cognition, and…

  6. Adult Reye-like syndrome associated with serologic evidence of acute parvovirus B19 infection

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    Paulo Sérgio Gonçalves da Costa

    Full Text Available Reye's syndrome is an infrequently diagnosed medical condition affecting mainly children. The etiology, epidemiology and natural history of Reye's syndrome have been cloudily written in footnotes of medical books and exotic papers since the initial description in early 1950s. We report here a case of adult Reye's syndrome associated with serologic evidence of parvovirus B19 infection.

  7. Mental Illness, Behavior Problems, and Social Behavior in Adults with Down Syndrome

    Science.gov (United States)

    Straccia, Claudio; Baggio, Stéphanie; Barisnikov, Koviljka

    2014-01-01

    Little is known about the behavioral characteristics of adults with Down syndrome (DS) without dementia. The main purpose of this study was to investigate the psychopathology and social behavior among adults with DS compared to adults with nonspecific intellectual disability (NSID). Thirty-four adults with DS were individually matched with 34…

  8. Insomnia is a frequent finding in adults with Asperger syndrome

    Science.gov (United States)

    Tani, Pekka; Lindberg, Nina; Nieminen-von Wendt, Taina; von Wendt, Lennart; Alanko, Lauri; Appelberg, Björn; Porkka-Heiskanen, Tarja

    2003-01-01

    Background Asperger syndrome (AS) is a neurodevelopmental disorder belonging to autism spectrum disorders with prevalence rate of 0,35% in school-age children. It has been most extensively studied in childhood while there is scarcity of reports concerning adulthood of AS subjects despite the lifelong nature of this syndrome. In children with Asperger syndrome the initiation and continuity of sleep is disturbed because of the neuropsychiatric deficits inherent of AS. It is probable that sleep difficulties are present in adulthood as well. Our hypothesis was that adults with AS suffer from difficulty in initiating and maintaining sleep and nonrestorative sleep (insomnia). Methods 20 AS without medication were compared with 10 healthy controls devoid of neuropsychiatric anamnesis. Clinical examination, blood test battery and head MRI excluded confounding somatic illnesses. Structured psychiatric interview for axis-I and axis-II disorders were given to both groups as well as Beck Depression Inventory and Wechsler adult intelligence scale, revised version. Sleep quality was assessed with sleep questionnaire, sleep diary during 6 consecutive days and description of possible sleep problems by the participants own words was requested. Results compared with controls and with normative values of good sleep, AS adults had frequent insomnia. In sleep questionnaire 90% (18/20), in sleep diary 75% (15/20) and in free description 85% (17/20) displayed insomnia. There was a substantial psychiatric comorbidity with only 4 AS subject devoid of other axis-I or axis-II disorders besides AS. Also these persons displayed insomnia. It can be noted that the distribution of psychiatric diagnoses in AS subjects was virtually similar to that found among patient with chronic insomnia. Conclusions the neuropsychiatric deficits inherent of AS predispose both to insomnia and to anxiety and mood disorders. Therefore a careful assessment of sleep quality should be an integral part of the treatment

  9. Insomnia is a frequent finding in adults with Asperger syndrome

    Directory of Open Access Journals (Sweden)

    von Wendt Lennart

    2003-10-01

    Full Text Available Abstract Background Asperger syndrome (AS is a neurodevelopmental disorder belonging to autism spectrum disorders with prevalence rate of 0,35% in school-age children. It has been most extensively studied in childhood while there is scarcity of reports concerning adulthood of AS subjects despite the lifelong nature of this syndrome. In children with Asperger syndrome the initiation and continuity of sleep is disturbed because of the neuropsychiatric deficits inherent of AS. It is probable that sleep difficulties are present in adulthood as well. Our hypothesis was that adults with AS suffer from difficulty in initiating and maintaining sleep and nonrestorative sleep (insomnia. Methods 20 AS without medication were compared with 10 healthy controls devoid of neuropsychiatric anamnesis. Clinical examination, blood test battery and head MRI excluded confounding somatic illnesses. Structured psychiatric interview for axis-I and axis-II disorders were given to both groups as well as Beck Depression Inventory and Wechsler adult intelligence scale, revised version. Sleep quality was assessed with sleep questionnaire, sleep diary during 6 consecutive days and description of possible sleep problems by the participants own words was requested. Results compared with controls and with normative values of good sleep, AS adults had frequent insomnia. In sleep questionnaire 90% (18/20, in sleep diary 75% (15/20 and in free description 85% (17/20 displayed insomnia. There was a substantial psychiatric comorbidity with only 4 AS subject devoid of other axis-I or axis-II disorders besides AS. Also these persons displayed insomnia. It can be noted that the distribution of psychiatric diagnoses in AS subjects was virtually similar to that found among patient with chronic insomnia. Conclusions the neuropsychiatric deficits inherent of AS predispose both to insomnia and to anxiety and mood disorders. Therefore a careful assessment of sleep quality should be an

  10. Leisure Activity and Caregiver Involvement in Middle-Aged and Older Adults with Down Syndrome

    Science.gov (United States)

    Mihaila, Iulia; Hartley, Sigan L.; Handen, Benjamin L.; Bulova, Peter D.; Tumuluru, Rameshwari V.; Devenny, Darlynne A.; Johnson, Sterling C.; Lao, Patrick J.; Christian, Bradley, T.

    2017-01-01

    The present study examined leisure activity and its association with caregiver involvement (i.e., residence and time spent with primary caregiver) in 62 middle-aged and older adults with Down syndrome (aged 30-53 years). Findings indicated that middle-aged and older adults with Down syndrome frequently participated in social and passive leisure…

  11. Employment in Adults with Down Syndrome in the United States: Results from a National Survey

    Science.gov (United States)

    Kumin, Libby; Schoenbrodt, Lisa

    2016-01-01

    Background: There is no current data about employment/unemployment of adults with Down syndrome in the United States. The data that exists includes adults with Down syndrome as part of the larger group of people with disabilities or people with intellectual disability. Method: This study used a survey to investigate paid and volunteer employment,…

  12. Is an adult with Asperger syndrome sitting in your waiting room?

    Science.gov (United States)

    Prayson, Brigid; Franco, Kathleen

    2012-12-01

    The prevalence of Asperger syndrome, a mild form of autism, appears to be rapidly increasing. This developmental disorder affects children and adults and can present challenges to providing medical care. In this update on Asperger syndrome, we offer guidance on how to interact with adult patients with the disorder. We also address proposed diagnostic changes scheduled to take effect in 2013.

  13. The Use of WAIS-III in Adults with HFA and Asperger Syndrome

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    Spek, Antoinette A.; Scholte, Evert M.; van Berckelaer-Onnes, Ina A.

    2008-01-01

    The WAIS III was administered to 16 adults with high functioning autism (HFA) and 27 adults with Asperger syndrome. Differences between Verbal Intelligence (VIQ) and Performance Intelligence (PIQ) were not found. Processing Speed problems in people with HFA appeared. At the subtest level, the Asperger syndrome group performed weak on Digit Span.…

  14. Variability of the Aging Process in Dementia-Free Adults with Down Syndrome

    Science.gov (United States)

    Tsao, Raphaele; Kindelberger, Cecile; Freminville, Benedicte; Touraine, Renaud; Bussey, Gerald

    2015-01-01

    The aim of this cross-sectional study was to analyze the typical aging process in adults with Down syndrome, focusing on its variability. The sample comprised 120 adults with Down syndrome who were free of dementia. Ages ranged from 20 to 69 years. Each participant was assessed on cognitive functioning and social adaptation, and was checked for…

  15. Mental Health Problems in Adults with Down Syndrome and Their Association with Life Circumstances

    Science.gov (United States)

    Mallardo, Mariarosa; Cuskelly, Monica; White, Paul; Jobling, Anne

    2014-01-01

    This study focused on current life circumstances, previous life events, and engagement with productive and enjoyable activities. It examined the association of these variables with mental health problems and mood in a cohort of young adults with Down syndrome. Participants were 49 adults with Down syndrome (age range 20-31 years) and their…

  16. Mitral valve surgery in the adult Marfan syndrome patient.

    Science.gov (United States)

    Bhudia, Sunil K; Troughton, Richard; Lam, Buu-Khanh; Rajeswaran, Jeevanantham; Mills, William R; Gillinov, A Marc; Griffin, Brian P; Blackstone, Eugene H; Lytle, Bruce W; Svensson, Lars G

    2006-03-01

    Because mitral valve dysfunction in adults with Marfan syndrome is poorly characterized, this study compares mitral valve pathophysiology and morphology with that of myxomatous mitral disease, documents types of mitral valve operations, and assesses long-term survival and durability of mitral valve surgery in Marfan patients. From May 1975 to June 2000, 27 adults with Marfan syndrome underwent mitral valve surgery. Their valve pathophysiology and morphology was compared with that of 119 patients with myxomatous mitral disease undergoing surgery from September 1995 to March 1999. Survival and repair durability were assessed at follow-up. Compared with myxomatous disease patients, Marfan patients had less posterior leaflet prolapse (44% versus 70%, p = 0.01), more bileaflet (44% versus 28%, p = 0.09) and anterior leaflet prolapse (11% versus 3%, p = 0.07), and presented earlier for surgery (age 41 +/- 12 years versus 57 +/- 13, p Marfan patients had longer and thinner leaflets. Mitral valve repair was performed less frequently in Marfan (16 of 27, 59%) than myxomatous disease patients (112 of 119, 94%). There were no hospital deaths; at 10 years, survival was 80% and freedom from reoperation 96%, with only 1 reoperation among the 16 repairs. Mitral valve pathophysiology and morphology differ between Marfan and myxomatous mitral valve diseases. Valve repair in Marfan patients is durable and gives acceptable long-term results, even in adults who present with advanced mitral valve pathology. With increasing use of the modified David reimplantation operation and sparing of the aortic valve, mitral valve repair is a greater imperative, particularly since we have not had to reoperate on any Marfan patients with reimplantations.

  17. Newly Emerging Feeding Difficulties in a 33-Year-Old Adult With CHARGE Syndrome

    OpenAIRE

    Hudson, Alexandra; Blake, Kim

    2015-01-01

    Feeding and swallowing difficulties are common among individuals with CHARGE syndrome. Many children require gastrostomy tube feeding in their early years and often undergo a delay in feeding and oral-motor skill development. There is little information available on adults with CHARGE syndrome, and the feeding difficulties they face. The present case describes newly emerging mouth over-stuffing feeding behaviors and feeding difficulties in a 33-year-old adult with CHARGE syndrome who had not ...

  18. Metabolic syndrome and Framingham risk score in obese young adults

    Directory of Open Access Journals (Sweden)

    Felix F. Widjaja

    2013-05-01

    Full Text Available Background: The increase number of the metabolic syndrome (MetS among young adults was mostly caused by obesity. MetS increases the risk of coronary heart disease (CHD which can be estimated by Framingham risk score (FRS. The study was aimed to know the prevalence of MetS and FRS in obese young adults and to associate them with the components of MetS. Methods: A total of 70 male and female students aged 18 to 25 years with BMI ≥ 25 kg/m2 in Faculty of Medicine Universitas Indonesia were selected consecutively. The blood samples used to test fasting blood glucose, total cholesterol, high-density lipoprotein, and triglyceride were examined in Department of Clinical Pathology, Cipto Mangunkusumo Hospital after fasting for 14 to 16 hours. International Diabetes Federation (IDF definition was used to diagnose MetS. Univariate and bivariate analysis were done. Results: The prevalence of MetS based on IDF definition was 18.6% among obese young adults. The most associated MetS components was hypertriglyceridemia (OR 12.13; 95% CI 2.92-50.46; p = 0.001, followed with high blood pressure (OR 9.33; 95% CI 2.26-38.56; p = 0.001, low-HDL (OR 8.33; 95% CI 2.17-32.05; p = 0.003, and impaired fasting glucose (p = 0.03. Four subjects had FRS ≥ 1% and 66 subjects had risk < 1%. Increased FRS was not associated with MetS (p = 0.154. There was no component of MetS associated with increased FRS. Conclusion: Prevalence of MetS in obese young adults was similar with obese children and adolescents. Although no association of MetS and FRS was found, they are significant predictors for CHD which should not be used separately. (Med J Indones. 2013;22:100-6Keywords: Abdominal obesity, Framingham risk score, metabolic syndrome, young adults

  19. Acute myocardial infarction in young adults with Antiphospholipid syndrome: report of two cases and literature review

    OpenAIRE

    Abid, Leila; Frikha, Faten; Bahloul, Zouhir; Kammoun, Samir

    2011-01-01

    Abstract Acute myocardial infarction (AMI) is rarely associated with antiphospholipid syndrome. The treatment of these patients is a clinical challenge. We report the observations of 2 young adults (1 woman and 1 man), admitted in our acute care unit for acute myocardial infarction (AMI). A coagulopathy work-up concludes the existence of antiphospholipid syndrome (APS) in the 2 cases. APS syndrome was considered primary in 2 cases. All patients presented an intense inflammatory syndrome (high...

  20. Metabolic syndrome prevalence among Northern Mexican adult population.

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    Rogelio Salas

    Full Text Available Dietary habits in the Mexican population have changed dramatically over the last few years, which are reflected in increased overweight and obesity prevalence. The aim was to examine the prevalence of metabolic syndrome (MetS and associated risk factors in Northern Mexican adults aged ≥ 16 years.The study was a population-based cross-sectional nutritional survey carried out in the State of Nuevo León, Mexico. The study included a sub-sample of 1,200 subjects aged 16 and over who took part in the State Survey of Nutrition and Health-Nuevo León 2011/2012. Anthropometric measurements, physical activity, blood pressure and fasting blood tests for biochemical analysis were obtained from all subjects. The prevalence of MetS in Mexican adults aged ≥ 16 years was 54.8%, reaching 73.8% in obese subjects. This prevalence was higher in women (60.4% than in men (48.9% and increased with age in both genders. Multivariate analyses showed no evident relation between MetS components and the level of physical activity.Obese adults, mainly women, are particularly at risk of developing MetS, with the associated implications for their health. The increasing prevalence of MetS highlights the need for developing strategies for its early detection and prevention.

  1. Metabolic Syndrome Prevalence among Northern Mexican Adult Population

    Science.gov (United States)

    Salas, Rogelio; Bibiloni, Maria del Mar; Ramos, Esteban; Villarreal, Jesús Z.; Pons, Antoni; Tur, Josep A.; Sureda, Antoni

    2014-01-01

    Background and Aims Dietary habits in the Mexican population have changed dramatically over the last few years, which are reflected in increased overweight and obesity prevalence. The aim was to examine the prevalence of metabolic syndrome (MetS) and associated risk factors in Northern Mexican adults aged ≥16 years. Methods and Results The study was a population-based cross-sectional nutritional survey carried out in the State of Nuevo León, Mexico. The study included a sub-sample of 1,200 subjects aged 16 and over who took part in the State Survey of Nutrition and Health–Nuevo León 2011/2012. Anthropometric measurements, physical activity, blood pressure and fasting blood tests for biochemical analysis were obtained from all subjects. The prevalence of MetS in Mexican adults aged ≥16 years was 54.8%, reaching 73.8% in obese subjects. This prevalence was higher in women (60.4%) than in men (48.9%) and increased with age in both genders. Multivariate analyses showed no evident relation between MetS components and the level of physical activity. Conclusions Obese adults, mainly women, are particularly at risk of developing MetS, with the associated implications for their health. The increasing prevalence of MetS highlights the need for developing strategies for its early detection and prevention. PMID:25141255

  2. Premonitory urges for tics in adult patients with Tourette syndrome.

    Science.gov (United States)

    Crossley, Eleanor; Seri, Stefano; Stern, Jeremy S; Robertson, Mary M; Cavanna, Andrea E

    2014-01-01

    Patients with Tourette syndrome (TS) often report characteristic sensory experiences, also called premonitory urges (PUs), which precede tic expression and have high diagnostic relevance. This study investigated the usefulness of a scale developed and validated in children and adolescents-the Premonitory Urge for Tics Scale (PUTS, Woods et al., 2005 [13])-for the assessment of PUs in adult patients with TS. Standard statistical methods were applied to test the psychometric properties of the PUTS in 102 adult TS outpatients recruited from two specialist clinics in the United Kingdom. The PUTS showed good acceptability and endorsement rates, with evenly distributed scores and low floor and ceiling effects. Item-total correlations were moderate to strong; PUTS total scores were significantly correlated with quantitative measures of TS severity. The PUTS showed excellent internal consistency reliability (Cronbach's alpha=0.85) and Spearman's correlations demonstrated satisfactory convergent and discriminant validity. Although originally devised to assess urges to tic in young patients with TS, the PUTS demonstrated good psychometric properties in a large sample of adults recruited at specialist TS clinics. This instrument is therefore recommended for use across the life span as a valid and reliable self-report measure of sensory experiences accompanying tic expression. Copyright © 2013 The Japanese Society of Child Neurology. Published by Elsevier B.V. All rights reserved.

  3. Adult Attachment Interview Discourse Patterns Predict Metabolic Syndrome in Midlife

    Science.gov (United States)

    Davis, Cynthia R.; Usher, Nicole; Dearing, Eric; Barkai, Ayelet R.; Crowell-Doom, Cindy; Mantzoros, Christos S.; Crowell, Judith A.

    2017-01-01

    Objective Adult attachment discourse patterns and current family relationship quality were examined as predictors of health behaviors and number of Metabolic Syndrome (MetS) criteria met. Methods A sample of 215 White/European American and Black/African American adults, aged 35 to 55, were examined cross-sectionally. Discourse was assessed with the Adult Attachment Interview (AAI), specifically: 1) coherence, a marker of attachment security, 2) unresolved trauma/loss, a marker of disorganized and distorted cognition related to trauma, and 3) idealization, the tendency to minimize the impact of stressful experiences. Health behaviors of diet, exercise, smoking and alcohol use were also assessed, as were adverse childhood experiences, current depressive symptoms and relationship functioning. MetS includes hypertension, hyperglycemia, high triglycerides, low HDL cholesterol, and obesity. Results Using path analysis and accounting for childhood adversity and depressive symptoms, AAI coherence and unresolved trauma or loss were directly linked to number of MetS criteria met (β = −.22 and .21 respectively). Idealization was indirectly linked to MetS through poor diet (β = −.26 and −.36 respectively), predicting 21% of the variance in number of MetS criteria met. Conclusions Attachment representations related to stress appraisal and care-seeking behaviors appear to serve as cognitive mechanisms increasing risk of MetS. PMID:25264975

  4. Sources of Disability in Tourette Syndrome: Children vs. Adults

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    Katie Kompoliti

    2016-01-01

    Full Text Available Background: Tourette syndrome (TS is a neurodevelopmental disorder characterized by tics and neuropsychiatric co-morbidities like Obsessive Compulsive Disorder (OCD and Attention Deficit Disorder (ADHD, among others. In many instances tics get better with age but this is not always true regarding the psychiatric co-morbidities. Methods: This manuscript reviews the disease-specific Quality of Life (QOL instruments used to measure disability in TS and the existing literature on sources of functional impairment in children and adults with TS. Results: Traditionally, disability in TS has been recorded using objective measures. In recent years there has been a development of disease-specific instruments to measure subjectively the impact of the different aspects of TS on the patient's daily function. The differential impact of tics vs. the psychiatric co-morbidities in children with TS is an issue of debate in the existing literature. In adults with TS, the literature is scant, therefore the sources of disability in this group are even less defined compared to children. Discussion: As clinicians, we need to focus on determining the sources of disability in children and adults with TS so we can target our interventions successfully.

  5. Immune thrombocytopenia in two unrelated Fanconi anemia patients – a mere coincidence?

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    Anna eKarastaneva

    2015-06-01

    Full Text Available Thrombocytopenia and pancytopenia, occurring in patients with Fanconi anemia (FA, are interpreted either as progression to bone marrow failure or as developing myelodysplasia. On the other hand, immune thrombocytopenia (ITP represents an acquired and often self-limiting benign hematologic disorder, associated with peripheral, immune-mediated, platelet destruction requiring different management modalities than those used in congenital bone marrow failure syndromes, including FA. Here we describe the clinical course of two independent FA patients with atypical - namely immune - thrombocytopenia. While in one patient belonging to complementation group FA-A, the ITP started at 17 months of age and showed a chronically persisting course with severe purpura, responding well to intravenous immunoglobulins (IVIG and later also danazol, a synthetic androgen, the other patient (of complementation group FA-D2 had a self-limiting course that resolved after one administration of IVIG. No cytogenetic aberrations or bone marrow abnormalities other than FA-typical mild dysplasia were detected. Our data show that acute and chronic ITP may occur in FA patients and impose individual diagnostic and therapeutic challenges in this rare congenital bone marrow failure / tumor predisposition syndrome. The management and a potential context of immune pathogenesis with the underlying marrow disorder are discussed.

  6. MRI and CT findings of adult Down's syndrome

    International Nuclear Information System (INIS)

    Murata, Tetsuhito; Koshino, Yoshifumi; Omori, Masao

    1993-01-01

    Cranial CT and MRI were performed in 29 adult patients with Down's syndrome aged from 20 to 46 years to examine early aging. Morphological changes with aging, such as brain atrophy and ventricular enlargement, were generally sparse; however, calculi of the basal nucleus and lesions of deep-seated white matter were significantly increased with aging. The pallidum and putamen were shown as low intensity signals on T2-weighted images in many of patients in their fourties, suggesting their involvement in the occurrence of dyskinesia and parkinsonism symptoms that are likely to occur in the elderly. Localized changes, as shown on CT and MRI, may reflect abnormally early occurrence of aging, which precedes morphological changes such as brain atrophy. (N.K.)

  7. Cells Deficient in the Fanconi Anemia Protein FANCD2 are Hypersensitive to the Cytotoxicity and DNA Damage Induced by Coffee and Caffeic Acid.

    Science.gov (United States)

    Burgos-Morón, Estefanía; Calderón-Montaño, José Manuel; Orta, Manuel Luis; Guillén-Mancina, Emilio; Mateos, Santiago; López-Lázaro, Miguel

    2016-07-08

    Epidemiological studies have found a positive association between coffee consumption and a lower risk of cardiovascular disorders, some cancers, diabetes, Parkinson and Alzheimer disease. Coffee consumption, however, has also been linked to an increased risk of developing some types of cancer, including bladder cancer in adults and leukemia in children of mothers who drink coffee during pregnancy. Since cancer is driven by the accumulation of DNA alterations, the ability of the coffee constituent caffeic acid to induce DNA damage in cells may play a role in the carcinogenic potential of this beverage. This carcinogenic potential may be exacerbated in cells with DNA repair defects. People with the genetic disease Fanconi Anemia have DNA repair deficiencies and are predisposed to several cancers, particularly acute myeloid leukemia. Defects in the DNA repair protein Fanconi Anemia D2 (FANCD2) also play an important role in the development of a variety of cancers (e.g., bladder cancer) in people without this genetic disease. This communication shows that cells deficient in FANCD2 are hypersensitive to the cytotoxicity (clonogenic assay) and DNA damage (γ-H2AX and 53BP1 focus assay) induced by caffeic acid and by a commercial lyophilized coffee extract. These data suggest that people with Fanconi Anemia, or healthy people who develop sporadic mutations in FANCD2, may be hypersensitive to the carcinogenic activity of coffee.

  8. Cells Deficient in the Fanconi Anemia Protein FANCD2 are Hypersensitive to the Cytotoxicity and DNA Damage Induced by Coffee and Caffeic Acid

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    Estefanía Burgos-Morón

    2016-07-01

    Full Text Available Epidemiological studies have found a positive association between coffee consumption and a lower risk of cardiovascular disorders, some cancers, diabetes, Parkinson and Alzheimer disease. Coffee consumption, however, has also been linked to an increased risk of developing some types of cancer, including bladder cancer in adults and leukemia in children of mothers who drink coffee during pregnancy. Since cancer is driven by the accumulation of DNA alterations, the ability of the coffee constituent caffeic acid to induce DNA damage in cells may play a role in the carcinogenic potential of this beverage. This carcinogenic potential may be exacerbated in cells with DNA repair defects. People with the genetic disease Fanconi Anemia have DNA repair deficiencies and are predisposed to several cancers, particularly acute myeloid leukemia. Defects in the DNA repair protein Fanconi Anemia D2 (FANCD2 also play an important role in the development of a variety of cancers (e.g., bladder cancer in people without this genetic disease. This communication shows that cells deficient in FANCD2 are hypersensitive to the cytotoxicity (clonogenic assay and DNA damage (γ-H2AX and 53BP1 focus assay induced by caffeic acid and by a commercial lyophilized coffee extract. These data suggest that people with Fanconi Anemia, or healthy people who develop sporadic mutations in FANCD2, may be hypersensitive to the carcinogenic activity of coffee.

  9. Audit of use of stiripentol in adults with Dravet syndrome.

    Science.gov (United States)

    Balestrini, S; Sisodiya, S M

    2017-01-01

    There are very few data available in the literature on the use of stiripentol in adults with Dravet syndrome (DS). DS cases are increasingly recognized in adulthood, and more children with DS now survive to adulthood. The aim of the study was to document the effectiveness and tolerability of stiripentol in adults with DS. We conducted an observational clinical audit in the epilepsy service of the National Hospital for Neurology and Neurosurgery, London (UK). We included 13 adult subjects with DS (eight females, five males). The responder (defined as more than 50% reduction in all seizure types) rate was 3/13 (23%) at 36 months. The following other outcomes were reported: seizure exacerbation (3/13, 23%), no change (3/13, 23%), less than 50% reduction in seizures (2/13, 15%), more than 50% reduction in generalized tonic-clonic seizures but no other seizure types (1/13, 8%), undefined response (1/13, 8%). The retention rate was 62% after 1 year and 31% after 5 years. Adverse effects were reported in 7/13 (54%): the most frequent were anorexia, weight loss, unsteadiness and tiredness. Withdrawal due to adverse effects occurred in 3/13 (23%). Compared with previous studies on children with DS, our results show a lower responder rate and a similar tolerability profile. Stiripentol can be effective with a good tolerability profile. Our audit is small, but supports the use of stiripentol in adults with DS when first-line treatments are ineffective or not tolerated, in keeping with published guidelines. © 2016 The Authors. Acta Neurologica Scandinavica Published by John Wiley & Sons Ltd.

  10. "Quality of Life in Adults with Non-Syndromic Craniosynostosis".

    Science.gov (United States)

    Mazzaferro, Daniel M; Naran, Sanjay; Wes, Ari M; Magee, Leanne; Taylor, Jesse A; Bartlett, Scott P

    2018-03-19

    While studies have analyzed quality of life (QOL) in children with non-syndromic craniosynostosis (NSC), to date nobody has investigated long-term QOL in adults with NSC. The purpose of this study is to compare QOL in adult NSC patients with a cohort of unaffected controls. We queried our institution's prospectively maintained craniofacial registry for NSC patients 18 years and older, and administered the validated World Health Organization Quality of Life (WHOQOL-BREF) questionnaire. Responses were compared, using a two-sample t-test, to an age-matched, United States, normative database provided by the World Health Organization (WHO). 151 adults met inclusion criteria: 52 were successfully contacted and 32 completed the WHOQOL-BREF. Average age of respondents was 23.0±6.1 years old (range, 18.1 to 42.1). 12 subjects had metopic synostosis, 15 had unicoronal, and 5 had sagittal. NSC patients had a superior quality of life compared to comparative norms in all domains: physical health (17.8±2.7 vs. 15.5±3.2, p0.05), while all individual subtypes maintained superior or equivalent QOL relative to controls. Demographic variables, Whitaker score, and number of surgical interventions did not correlate with differences in QOL. Adult patients previously treated for NSC perceive their quality of life to be high, superior to that of a normative United States sample. Future work will seek to analyze additional patients and better understand the reasons behind these findings.

  11. Bone mineral density in adults with Down`s syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Angelopoulou, N.; Souftas, V.; Mandroukas, K. [Ergophysiology Lab., Aristotle Univ. of Thessaloniki, Thessaloniki (Greece); Sakadamis, A. [Medical School, Aristotle Univ. of Thessaloniki (Greece)

    1999-05-01

    The objective of the study was to elucidate if individuals with Down`s syndrome (DS) are likely to experience an increased risk of osteoporosis with advancing age, in addition to precocious aging and their skeletal anomalies. Bone mineral density (BMD) was measured in 22 home-reared adults (9 males and 13 females; age 26.22 {+-} 4.45 and 23.65 {+-} 3.23 years, respectively) by dual energy X-ray absorptiometry (DXA). The BMD of the second to fourth lumbar vertebrae was measured in posteroanterior projection and the mean density expressed as grams per square centimetre. The BMD of DS individuals was compared with 27 control subjects (12 males and 15 females) of the same age (age 24.16 {+-} 3.46 and 23.86 {+-} 2.92 years, respectively). The results showed that the BMD of the lumbar spine in the males as well as in the females with DS was significantly lower than that in their control counterparts (p < 0.001). Comparing the DS males with the females, the BMD was lower in the males at a level of 9 %. Factors that contribute to this disorder may be mainly the muscular hypotonia, the sedentary lifestyle and the accompanying diseases which frequently observed in the syndrome. Future studies must be focused on the biochemistry of bone metabolism, the evaluation of gonadal, thyroid and parathyroid function, and the genes of the extra chromosome 21. (orig.) With 1 tab., 21 refs.

  12. Bone mineral density in adults with Down's syndrome

    International Nuclear Information System (INIS)

    Angelopoulou, N.; Souftas, V.; Mandroukas, K.; Sakadamis, A.

    1999-01-01

    The objective of the study was to elucidate if individuals with Down's syndrome (DS) are likely to experience an increased risk of osteoporosis with advancing age, in addition to precocious aging and their skeletal anomalies. Bone mineral density (BMD) was measured in 22 home-reared adults (9 males and 13 females; age 26.22 ± 4.45 and 23.65 ± 3.23 years, respectively) by dual energy X-ray absorptiometry (DXA). The BMD of the second to fourth lumbar vertebrae was measured in posteroanterior projection and the mean density expressed as grams per square centimetre. The BMD of DS individuals was compared with 27 control subjects (12 males and 15 females) of the same age (age 24.16 ± 3.46 and 23.86 ± 2.92 years, respectively). The results showed that the BMD of the lumbar spine in the males as well as in the females with DS was significantly lower than that in their control counterparts (p < 0.001). Comparing the DS males with the females, the BMD was lower in the males at a level of 9 %. Factors that contribute to this disorder may be mainly the muscular hypotonia, the sedentary lifestyle and the accompanying diseases which frequently observed in the syndrome. Future studies must be focused on the biochemistry of bone metabolism, the evaluation of gonadal, thyroid and parathyroid function, and the genes of the extra chromosome 21. (orig.)

  13. Evaluation of metabolic syndrome in adults of Talca city, Chile

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    Moore-Carrasco Rodrigo

    2008-05-01

    Full Text Available Abstract Objective- Insulin resistance (IR is an important risk factor for type 2 Diabetes Mellitus (DM2 and cardiovascular disease (CVD. Metabolic Syndrome (MS is a clustering of metabolic alterations associated to IR; however, there is no international consensus for defining its diagnosis. Our objective was to evaluate the prevalence and characteristics of MS identified by the ATP III and IDF criteria in adults from Talca city. Research and methods- We studied 1007 individuals, aged 18–74, and residents from Talca. MS subjects were defined according to ATP III (three altered factors and IDF criteria (patients with waist circumference >80/90 cm (W/M and two others altered factors. Results- The prevalence of metabolic syndrome according to the IDF and ATP III criteria was 36.4% and 29.5%, respectively after adjustment for age and sex. The agreement for both criteria was 89%. The prevalence in men was higher than in women for both MS definitions, although not significant. MS probability increased with age, and the highest risk was in the 57–68 age group (ATP-MS and 53–72 age group (IDF-MS. Hypertension, high triglycerides and abdominal obesity are the most frequent alterations in MS. Conclusion- MS prevalence in adults was higher when diagnosed with IDF than with ATP criterion; in both, age is directly related with the MS presence. The MS subjects showed higher levels of blood pressure, waist circumference and plasma triglycerides. Considering our results, it is worrisome that one third of our population has a high risk of developing DM2 and CVD in the future.

  14. Adult mitochondrial DNA depletion syndrome with mild manifestations

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    Josef Finsterer

    2013-06-01

    Full Text Available Mitochondrial DNA depletion syndrome (MDS is usually a severe disorder of infancy or childhood, due to a reduced copy number of mtDNA molecules. MDS with only mild, non-specific clinical manifestations and onset in adulthood has not been reported. A 47-year-old Caucasian female with short stature and a history of migraine, endometriosis, Crohn’s disease, C-cell carcinoma of the thyroid gland, and a family history positive for mitochondrial disorder (2 sisters, aunt, niece, developed day-time sleepiness, exercise intolerance, and myalgias in the lower-limb muscles since age 46y. She slept 9-10 hours during the night and 2 hours after lunch daily. Clinical exam revealed sore neck muscles, bilateral ptosis, and reduced Achilles tendon reflexes exclusively. Blood tests revealed hyperlipidemia exclusively. Nerve conduction studies, needle electromyography, and cerebral and spinal magnetic resonance imaging were non-informative. Muscle biopsy revealed detached lobulated fibers with subsarcolemmal accentuation of the NADH and SDH staining. Real-time polymerase chain reaction revealed depletion of the mtDNA down to 9% of normal. MDS may be associated with a mild phenotype in adults and may not significantly progress during the first year after onset. In an adult with hypersomnia, severe tiredness, exercise intolerance, and a family history positive for mitochondrial disorder, a MDS should be considered.

  15. History of suicide attempts in adults with Asperger syndrome.

    Science.gov (United States)

    Paquette-Smith, Melissa; Weiss, Jonathan; Lunsky, Yona

    2014-01-01

    Individuals with Asperger syndrome (AS) may be at higher risk for attempting suicide compared to the general population. This study examines the issue of suicidality in adults with AS. An online survey was completed by 50 adults from across Ontario. The sample was dichotomized into individuals who had attempted suicide (n = 18) and those who had not (n = 32). We examined the relationship between predictor variables and previous attempts, and compared the services that both groups are currently receiving. Over 35% of individuals with AS reported that they had attempted suicide in the past. Individuals who attempted suicide were more likely to have a history of depression and self-reported more severe autism symptomatology. Those with and without a suicidal history did not differ in terms of the services they were currently receiving. This study looks at predictors retrospectively and cannot ascertain how long ago the attempt was made. Although efforts were made to obtain a representative sample, there is the possibility that the individuals surveyed may be more or less distressed than the general population with AS. The suicide attempt rate in our sample is much higher than the 4.6% lifetime prevalence seen in the general population. These findings highlight a need for more specialized services to help prevent future attempts and to support this vulnerable group.

  16. Postprandial metabolism in adults with Prader-Willi syndrome.

    Science.gov (United States)

    Purtell, Louise; Viardot, Alexander; Sze, Lisa; Loughnan, Georgina; Steinbeck, Katharine; Sainsbury, Amanda; Herzog, Herbert; Smith, Arabella; Campbell, Lesley V

    2015-06-01

    Individuals with Prader-Willi syndrome (PWS) are commonly restricted to 60-75% of height-appropriate calorie intake because they rapidly become obese on a normal diet. This study measured changes in energy expenditure, glucose and lipid homeostasis, and metabolic flexibility in response to a meal in PWS adults. 11 adults with PWS were compared with 12 adiposity-matched and 10 lean subjects. Indirect calorimetry was conducted at baseline and 210 min after a standardized 600 kCal breakfast to assess energy expenditure and substrate utilization. Circulating glucose, insulin, C-peptide, glucagon, nonesterified fatty acids, and triglycerides were measured up to 240 min. Insulin sensitivity and insulin secretion rate were assessed by HOMA-IR and C-peptide deconvolution, respectively. Body composition was determined by dual-energy X-ray absorptiometry. The PWS group had lower lean mass than the obesity control group. Corrected for lean mass, there were no differences between the PWS and obesity groups in resting metabolic rate or metabolic flexibility. Total and abdominal fat mass, insulin sensitivity, and insulin secretion rate were also similar between these groups. This study did not detect an intrinsic metabolic defect in individuals with PWS. Rather, lower lean mass, combined with lower physical activity, may contribute to weight gain on an apparent weight-maintenance diet. © 2015 The Obesity Society.

  17. Prevalence of chronic kidney disease in adults with metabolic syndrome

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    P C Emem-Chioma

    2011-01-01

    Full Text Available The burden of chronic kidney disease (CKD and other non- communicable diseases continues to rise globally, and recent studies suggest that metabolic syndrome (MS may add to this burden by contributing to the development of CKD. Given that reports on the prevalence of CKD in patients with MS in this environment are scanty, this study was undertaken with the sole aim of determining the prevalence of CKD in subjects with MS as defined by the International Diabetes Federation (IDF and the National Cholesterol Education Project Adult Treatment Panel III (NCEP ATP III. A total of 240 consenting adults (18-70 years attending the general out- patient clinic of the General Hospital Okrika for various ailments were studied. Subjects were screened for MS as per the above- mentioned criteria. Estimated GFR (eGFR was determined with Modification of Diet for Renal Disease (MDRD formula and CKD was defined as eGFR less than 60 mL/min/1.73 m2 . Data was analyzed using SPSS version 12.0 and Epi info version 4.06d; P 0.05. CKD was more common in subjects with MS compared with those without, although the difference was not statistically significant. The prevalence of CKD in subjects with MS in our study population did not differ significantly when the different MS definitions were employed.

  18. The investigation and differential diagnosis of Asperger syndrome in adults.

    Science.gov (United States)

    Lehnhardt, Fritz-Georg; Gawronski, Astrid; Pfeiffer, Kathleen; Kockler, Hanna; Schilbach, Leonhard; Vogeley, Kai

    2013-11-08

    As a result of the increased public interest in autism spectrum disorders (ASD), certain core manifestations of ASD--impaired social interaction and communication, bizarre interests--are now commonly recognized as being typical of autism, not only in children, but in adults as well. More often than before, general practitioners, neurologists, and psychiatrists find themselves being asked whether a patient is suffering from previously unrecognized Asperger syndrome (AS). The prevalence of ASD is estimated at 1%, and the ratio of diagnosed to undiagnosed cases at about 3:2. Little is known about the diagnostic evaluation of AS in adulthood. We selectively searched the Medline database for pertinent literature, paying special attention to diagnostic manuals and to the guideline of the United Kingdom's National Institute for Health and Care Excellence (NICE). Centrally important aspects of the diagnosis of AS include an assessment of the patient's ability to assume the emotional perspectives of others, non-verbal modes of expression, repetitive behavior patterns, and childhood social behavioral history. The autism quotient (AQ) is now established as a simple but nonspecific screening test. Up to 70% of all affected adults have comorbid disturbances, most often depression and anxiety disorders. The differential diagnosis includes personality disorders, anxiety disorders, obsessive-compulsive disorder, and attention deficit-hyperactivity disorder. The diagnostic assessment should proceed in stepwise fashion, starting from simple screening in primary care and then moving on to evaluation of the suspected diagnosis by a mental health care specialist, followed by extensive further investigation in an outpatient clinic specifically devoted to patients with autism spectrum disorders. The diagnostic assessment of autism in adults requires knowledge of the core and accompanying manifestations of autism and of their differential diagnoses. More research is needed for the

  19. The Differencies in Adult and Pediatric Myelodysplastic Syndrome: A Review

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    Vasekova P

    2016-08-01

    Full Text Available Myelodysplastic syndrome (MDS represent very heterogenous group of clonal stem cell bone marrow disorders with ineffective haematopoesis leading to cytopenias in peripheral blood and increased risk of blastic transformation and evolution of acute myeloid leukemia. MDS is a disease of older age mostly, in children it seems to be very rare. There are several significant morphological, cytogenetic and prognostic differencies of the disease in adults and in children. Adult MDS patients most commonly manifest with symptoms of anemia, bleeding and infection are uncommon. In childhood, MDS manifests predominantly by neutropenia and thrombocytopenia. In addition, some pediatric MDS patients present also with constitutional disease’s signs and symptoms. Early and correct diagnosis in both age groups is essential for the choice of appropriate therapy and also for next life of patients. However, the diagnosis of MDS is challenging, complex and requiring close correlation of clinical symptoms, laboratory parameters and standardized examination of BM biopsies. The authors present an overview focused on biology of MDS in adults and children, on the differences in the incidence, clinical presentation and treatment. They summarize the possibilities and limits of histopathological diagnosis and differential diagnosis of the disease in different age groups. A major problem in the morphological diagnosis of MDS remains the determination, whether the myelodysplasia is due to clonal disorder. It might result also from some other factors, as significant dysplasia can also occur in reactive conditions, and vice versa, only discrete dysplasia is sometimes observed in MDS patients. Although histomorphological and immunohistochemical analysis of BM biopsy is invasive and time-consuming examination, it has its value in the diagnosis, differential diagnosis and evaluation of therapeutic effect.

  20. Epidemiology of Restless Legs Syndrome in Korean Adults

    Science.gov (United States)

    Cho, Yong Won; Shin, Won Chul; Yun, Chang Ho; Hong, Sung Bong; Kim, Ju Han; Allen, Richard P.; Earley, Christopher J.

    2008-01-01

    Study Objectives: To investigate the prevalence of restless legs syndrome (RLS) in Korea. Design: A large population-based telephone interview method using the Korean version of the Johns Hopkins telephone diagnostic interview for the RLS. Setting: A computer aided telephone interview method Participants: A total of 5,000 subjects (2,470 men and 2,530 women) were interviewed in depth. A representative sample aged 20 to 69 years was constituted according to a stratified, multistage random sampling method. Interventions: N/A Measurements and Results: Of the respondents, 373 respondents (7.5%) of the population (pop) met the criteria for the definite or probable RLS groups: 194 (3.9% of pop) respondents fulfilled the criteria for definite RLS and 179 (3.6% of pop) respondents fulfilled the criteria for probable RLS. The prevalence of RLS was generally higher for women than men (4.4% vs. 3.3% for definite, 8.7% vs. 6.2% for definite plus probable). About 90% of RLS individuals were experiencing symptoms at the time of the interview and this was similar for both RLS groups. Seventy-four respondents (1.48%) reported symptoms were moderately or severely distressing and were therefore classified as RLS “sufferers.” Of those with a diagnosis of RLS sufferer, 24.3% reported being treated for their symptoms, compared to 12.4% of RLS not designated a “sufferer.” Conclusion: RLS is common and underdiagnosed in Korea with nearly 1% of the population reporting disturbed sleep related to their RLS. These results are comparable to other countries. Citation: Cho YW; Shin WC; Yun CH; Hong SB; Kim JH; Allen RP; Earley CJ. Epidemiology of restless legs syndrome in korean adults. SLEEP 2008;31(2):219-223. PMID:18274269

  1. Asperger Syndrome: a frequent comorbidity in first diagnosed adult ADHD patients?

    Science.gov (United States)

    Roy, Mandy; Ohlmeier, Martin D; Osterhagen, Lasse; Prox-Vagedes, Vanessa; Dillo, Wolfgang

    2013-06-01

    Because adult ADHD is often accompanied by psychiatric comorbidities, the diagnostic process should include a thorough investigation for comorbid disorders. Asperger-Syndrome is rarely reported in adult ADHD and commonly little attention is paid to this possible comorbidity. We investigated 53 adult ADHD-patients which visited our out patient clinic for first ADHD-diagnosis (17 females, 36 males; range of age: 18-56 years) for the frequency of a comorbid Asperger-Syndrome. Diagnosis of this autism-spectrum disorder was confirmed by applying the appropriate DSM-IV-criteria. Additionally we tested the power of the two screening-instruments "Autism-spectrum quotient" (AQ) and "Empathy quotient" (EQ) by Baron-Cohen for screening Asperger-Syndrome in adult ADHD. Eight ADHD-patients were diagnosed with a comorbid Asperger-Syndrome (15.1%). The difference in AQ- and EQ-scores between pure ADHD-patients and comorbid patients was analysed, showing significantly higher scores in AQ and significant lower scores in EQ in comorbid patients. Results show that the frequency of Asperger-Syndrome seems to be substantially increased in adult ADHD (versus the prevalence of 0.06% in the general population), indicating that investigators of adult ADHD should also be attentive to autism-spectrum disorders. Especially the AQ seems to be a potential screening instrument for Asperger-Syndrome in adult ADHD-patients.

  2. Prevalence of metabolic syndrome and metabolic syndrome components in young adults: A pooled analysis

    Directory of Open Access Journals (Sweden)

    Paul B. Nolan

    2017-09-01

    Full Text Available Metabolic syndrome (MetSyn represents a clustering of different metabolic abnormalities. MetSyn prevalence is present in approximately 25% of all adults with increased prevalence in advanced ages. The presence of one component of MetSyn increases the risk of developing MetSyn later in life and likely represents a high lifetime burden of cardiovascular disease risk. Therefore we pooled data from multiple studies to establish the prevalence of MetSyn and MetSyn component prevalence across a broad range of ethnicities. PubMed, SCOPUS and Medline databases were searched to find papers presenting MetSyn and MetSyn component data for 18–30 year olds who were apparently healthy, free of disease, and MetSyn was assessed using either the harmonized, National Cholesterol Education Program Adult Treatment Panel III (NCEP-ATPIII, American Heart Association/National Heart, Blood and Lung Institute (AHA/NHBLI, or International Diabetes Federation (IDF definitions of MetSyn. After reviewing returned articles, 26,609 participants' data from 34 studies were included in the analysis and the data were pooled. MetSyn was present in 4.8–7% of young adults. Atherogenic dyslipidaemia defined as low high density lipoprotein (HDL cholesterol was the most prevalent MetSyn component (26.9–41.2%, followed by elevated blood pressure (16.6–26.6%, abdominal obesity (6.8–23.6%, atherogenic dyslipidaemia defined as raised triglycerides (8.6–15.6%, and raised fasting glucose (2.8–15.4%. These findings highlight that MetSyn is prevalent in young adults. Establishing the reason why low HDL is the most prevalent component may represent an important step in promoting primary prevention of MetSyn and reducing the incidence of subsequent clinical disease.

  3. Do adults with Down syndrome do the same amount of physical activity as adults without disability? A proof of principle study.

    Science.gov (United States)

    Shields, Nora; Plant, Samantha; Warren, Catherine; Wollersheim, Dennis; Peiris, Casey

    2017-09-27

    This study compared levels of physical activity completed by adults with and without Down syndrome. Fifteen adults with and 15 adults without Down syndrome matched for age and gender, took part. The intensity and duration of physical activity were measured using RT3 accelerometers worn for seven days. Only, 12 participants with Down syndrome had complete physical activity data, and these participants and their matched controls (total: six females, 18 males; aged 25.8 ± 9.7) were included in the analyses. There were significantly lower levels of moderate and vigorous physical activity per day for people with Down syndrome (median = 27 min) compared to those without (median = 101 min) (p Down syndrome. Adults with Down syndrome appear to participate in lower levels of physical activity than adults without Down syndrome. Further research should validate these estimates. © 2017 John Wiley & Sons Ltd.

  4. Transition from Pediatric to Adult Health Care for Dravet Syndrome Patients

    OpenAIRE

    J Gordon Millichap

    2013-01-01

    Investigators from University Hospital of Rennes; Necker Hospital, Paris; and University Paris Descartes, France used a questionnaire to study the transition and transfer from pediatric to adult health-care system in patients with Dravet syndrome and their families.

  5. Diagnosis of Fanconi Anemia: Mutation Analysis by Next-Generation Sequencing

    Directory of Open Access Journals (Sweden)

    Najim Ameziane

    2012-01-01

    Full Text Available Fanconi anemia (FA is a rare genetic instability syndrome characterized by developmental defects, bone marrow failure, and a high cancer risk. Fifteen genetic subtypes have been distinguished. The majority of patients (≈85% belong to the subtypes A (≈60%, C (≈15% or G (≈10%, while a minority (≈15% is distributed over the remaining 12 subtypes. All subtypes seem to fit within the “classical” FA phenotype, except for D1 and N patients, who have more severe clinical symptoms. Since FA patients need special clinical management, the diagnosis should be firmly established, to exclude conditions with overlapping phenotypes. A valid FA diagnosis requires the detection of pathogenic mutations in a FA gene and/or a positive result from a chromosomal breakage test. Identification of the pathogenic mutations is also important for adequate genetic counselling and to facilitate prenatal or preimplantation genetic diagnosis. Here we describe and validate a comprehensive protocol for the molecular diagnosis of FA, based on massively parallel sequencing. We used this approach to identify BRCA2, FANCD2, FANCI and FANCL mutations in novel unclassified FA patients.

  6. Mouth examination performance by children's parents and by adolescents in Fanconi anemia.

    Science.gov (United States)

    Pivovar, Allana; Furquim, Camila Pinheiro; Bonfim, Carmem; Torres-Pereira, Cassius Carvalho

    2017-11-01

    Fanconi anemia (FA) is a rare genetic syndrome characterized by increased risk of developing malignant neoplasms, particularly oral squamous cell carcinoma. This study aims to ascertain the extent to which adolescents and guardians/parents of children with FA are aware of their oral cancer risks and assess their ability to perform mouth examination (ME). A cross-sectional study was conducted among patients with FA (between 6 and 16 years) and their parents. A total of 45 patients, 19 children and 26 adolescents, participated in the study. Among children less than 12 years of age, caregivers performed ME and adolescents between 12 and 16 years of age performed mouth self-examination (MSE). All parents were given a self-reporting questionnaire to collect sociodemographic data, information about health-related behaviors, and oral cancer awareness. Performance was evaluated using criteria for mucosal visualization and retracting ability. Subsequently, a dentist clinically examined all patient participants. Performance evaluation indicated that the examination quality was unsatisfactory in both groups. Statistical significance was found between ability to perform ME by marital status (P Oral mucosa surveillance performed by parents and adolescents seems to be inaccurate. However, as an oral examination is a relatively inexpensive form of secondary prevention, it merits attention to teaching the technique to patients with FA and their caregivers. © 2017 Wiley Periodicals, Inc.

  7. Genotyping of fanconi anemia patients by whole exome sequencing: advantages and challenges.

    Directory of Open Access Journals (Sweden)

    Kerstin Knies

    Full Text Available Fanconi anemia (FA is a rare genomic instability syndrome. Disease-causing are biallelic mutations in any one of at least 15 genes encoding members of the FA/BRCA pathway of DNA-interstrand crosslink repair. Patients are diagnosed based upon phenotypical manifestations and the diagnosis of FA is confirmed by the hypersensitivity of cells to DNA interstrand crosslinking agents. Customary molecular diagnostics has become increasingly cumbersome, time-consuming and expensive the more FA genes have been identified. We performed Whole Exome Sequencing (WES in four FA patients in order to investigate the potential of this method for FA genotyping. In search of an optimal WES methodology we explored different enrichment and sequencing techniques. In each case we were able to identify the pathogenic mutations so that WES provided both, complementation group assignment and mutation detection in a single approach. The mutations included homozygous and heterozygous single base pair substitutions and a two-base-pair duplication in FANCJ, -D1, or -D2. Different WES strategies had no critical influence on the individual outcome. However, database errors and in particular pseudogenes impose obstacles that may prevent correct data perception and interpretation, and thus cause pitfalls. With these difficulties in mind, our results show that WES is a valuable tool for the molecular diagnosis of FA and a sufficiently safe technique, capable of engaging increasingly in competition with classical genetic approaches.

  8. [Difficulties in the diagnosis of diarrhea-associated hemolytic uremic syndrome in adults].

    Science.gov (United States)

    Malov, V A; Maleev, V V; Kozlovskaya, N L; Tsvetkova, N A; Smetanina, S V; Gorobchenko, A N; Serova, V V; Chentsov, V B; Volkov, A G; Faller, A P

    Hemolytic uremic syndrome (HUS) is a rare, but menacing condition registered mainly in children. The paper gives a detailed description and analysis of a clinical case of HUS with a favorable outcome in an adult woman who developed the syndrome in the presence of bloody diarrhea. It considers an update on the etiology, pathogenesis, and clinical features of HUS associated with diarrheal syndrome and discusses differential diagnostic features, diagnostic problems, and characteristics of management tactics for patients.

  9. Dietary patterns as compared with physical activity in relation to metabolic syndrome among Chinese adults

    NARCIS (Netherlands)

    He, Y.; Li, Y.; Lai, J.; Wang, D.; Zhang, J.; Fu, P.; Yang, X.; Qi, L.

    2013-01-01

    Aims: To examine the nationally-representative dietary patterns and their joint effects with physical activity on the likelihood of metabolic syndrome (MS) among 20,827 Chinese adults. Methods and results: CNNHS was a nationally representative cross-sectional observational study. Metabolic syndrome

  10. Reversal of Handedness Effects on Bimanual Coordination in Adults with Down Syndrome

    Science.gov (United States)

    Mulvey, G. M.; Ringenbach, S. D. R.; Jung, M. L.

    2011-01-01

    Background: Research on unimanual tasks suggested that motor asymmetries between hands may be reduced in people with Down syndrome. Our study examined handedness (as assessed by hand performance) and perceptual-motor integration effects on bimanual coordination. Methods: Adults with Down syndrome (13 non-right-handed, 22 right-handed), along with…

  11. Recognition of Facial Expressions and Prosodic Cues with Graded Emotional Intensities in Adults with Asperger Syndrome

    Science.gov (United States)

    Doi, Hirokazu; Fujisawa, Takashi X.; Kanai, Chieko; Ohta, Haruhisa; Yokoi, Hideki; Iwanami, Akira; Kato, Nobumasa; Shinohara, Kazuyuki

    2013-01-01

    This study investigated the ability of adults with Asperger syndrome to recognize emotional categories of facial expressions and emotional prosodies with graded emotional intensities. The individuals with Asperger syndrome showed poorer recognition performance for angry and sad expressions from both facial and vocal information. The group…

  12. "We Are All There Silently Coping." The Hidden Experiences of Parents of Adults with Asperger Syndrome

    Science.gov (United States)

    Griffith, Gemma M.; Totsika, Vasiliki; Nash, Susie; Jones, Robert S. P.; Hastings, Richard P.

    2012-01-01

    Background: The experiences of older parents of adults with Asperger syndrome have not been explored in the research literature. Method: Four families who had middle-aged offspring with Asperger syndrome were interviewed (3 mothers and 1 couple), and the interviews were analysed using interpretative phenomenological analysis (IPA). Results: Six…

  13. Acute tubulointerstitial nephritis and uveitis syndrome: A report on four adult cases

    Directory of Open Access Journals (Sweden)

    Yosra Ben Ariba

    2017-01-01

    Full Text Available Acute tubulointerstitial nephritis and uveitis (TINU syndrome is a rare disease, generally presenting in children and young women. The interstitial nephritis may precede, follow, or develop concurrent to the uveitis. We report the clinical features and outcomes of four adult patients, aged 41-70 years with the TINU syndrome.

  14. Rett Syndrome Symptomatology of Institutionalized Adults with Mental Retardation: Comparison of Males and Females.

    Science.gov (United States)

    Burd, Larry; And Others

    1991-01-01

    The study of 297 institutionalized adults with mental retardation found no symptom of Rett syndrome occurred more frequently in males than in females and no single cluster of symptoms appeared to differentiate males from females. Only females were found to meet the necessary criteria for diagnosis of Rett syndrome. (Author/DB)

  15. Association between the metabolic syndrome and its components with falls in community-dwelling older adults.

    Science.gov (United States)

    Liao, Kuo-Chen; Pu, Shou-Jin; Lin, Chung-Hao; Chang, Hong-Jyun; Chen, Ying-Jen; Liu, Maw-Sen

    2012-12-01

    The metabolic syndrome and falls are both serious and common health problems in older adults. However, little is known about whether the metabolic syndrome contributes to falls. We investigated the relationship between the metabolic syndrome and its components with falls in community-dwelling older adults. We designed and conducted a cross-sectional study. A total of 1165 community-dwelling older adults who received a geriatric health examination, including interviewer-administered questionnaires and physical and biochemical examinations, were retrospectively enrolled from 2008 to 2010 and specifically asked about the history of falls in the preceding year. The mean age of the participants was 74.9 ± 6.7 years, and 54.3% were women. The overall prevalence of falls and metabolic syndrome were 17.9% and 27.3%, respectively. Compared with those who did not fall, the participants who fell had a higher prevalence of the metabolic syndrome (45.7% versus 23.3%, Prisk factor for falls in community-dwelling older adults (odds ratio=2.56, 95% confidence interval 1.86-3.51). Because falling is a multifactorial geriatric syndrome, many potential confounders, such as visual abnormalities, obesity, arthritis, and polypharmacy, were not considered in this study. The metabolic syndrome is an independent risk factor for falls in community-dwelling older adults and should be addressed with regard to prevention of falls.

  16. Leg ulcer in Werner syndrome (adult progeria): a case report.

    Science.gov (United States)

    Fumo, Giuseppe; Pau, Monica; Patta, Federico; Aste, Nicola; Atzori, Laura

    2013-03-15

    Werner syndrome (WS; MIM#277700) or adult progeria, is a rare disease, associated with mutations of a single gene (RECQL2 or WRN), located on chromosome 8 (8p12). It codes a DNA-helicase, whose defects cause genomic instability. The highest incidences are reported in Japan and Sardinia (Italy). On this major island of the Mediterranean Basin, the WS cases have been observed in the northern areas. The authors describe the apparently first case reported in southern Sardinia, a 51-year-old woman, who was born in and resides in the province of Cagliari. She presented with a 9-year history of an intractable leg ulcer and other characteristic symptoms, including "bird-like" face, high-pitched voice, premature greying, short stature, abdominal obesity in contrast with thin body type, scleroderma-like legs, decreased muscle mass, diabetes, atherosclerosis, and premature menopause. A specialized genetic Institute of Research (IRCCS-IDI, Rome) confirmed the clinical diagnosis. There is no cure or specific treatment and patients must be periodically screened for an increased risk of cardiovascular and cerebrovascular disease and malignancies. Among the many findings, leg ulcers significantly affect the patient's quality of life. This problem may send the patient to the dermatologist, who finally suspects the diagnosis. Poor response to medical treatment may require aggressive repeated surgery, with poor or temporary results.

  17. Tic Exacerbation in Adults with Tourette Syndrome: A Case Series

    Directory of Open Access Journals (Sweden)

    Sara M. Schaefer

    2017-03-01

    Full Text Available Background: Tourette syndrome (TS has been described as peaking in adolescence with subsequent regression. We report patients who were diagnosed with TS during childhood who experienced a latent period (significant reduction in or absence of tics followed by tic re-emergence in adulthood.Methods: We performed a retrospective chart review of outpatients over age 21 seen at the Yale neurology clinic between January 2012 and July 2016 who were diagnosed with childhood-onset tics, and who experienced a latent period of greater than 1 year followed by an exacerbation.Results: Sixteen patients were identified. The mean latent period was 16 years. Ten patients (62.5% identified an exacerbation trigger, most commonly changes in substance use (five patients. Seven patients (43.8% reported worsening of tics since childhood. Six patients (37.5% had received pharmacological intervention for tics as children, and 15 patients (93.8% as adults. Six of 15 patients (40.0% had an effective response from those pharmacological intervention(s.Discussion: Our study demonstrates that the decline in symptoms as patients age may represent temporary improvement. The latent period lasted years in our patients, different from the more rapid waxing and waning in children. A change in substance use was an important trigger. Requests for pharmacological intervention were not necessarily correlated with worsening tic severity. 

  18. Tic Exacerbation in Adults with Tourette Syndrome: A Case Series.

    Science.gov (United States)

    Schaefer, Sara M; Chow, Christopher A; Louis, Elan D; Robakis, Daphne

    2017-01-01

    Tourette syndrome (TS) has been described as peaking in adolescence with subsequent regression. We report patients who were diagnosed with TS during childhood who experienced a latent period (significant reduction in or absence of tics) followed by tic re-emergence in adulthood. We performed a retrospective chart review of outpatients over age 21 seen at the Yale neurology clinic between January 2012 and July 2016 who were diagnosed with childhood-onset tics, and who experienced a latent period of greater than 1 year followed by an exacerbation. Sixteen patients were identified. The mean latent period was 16 years. Ten patients (62.5%) identified an exacerbation trigger, most commonly changes in substance use (five patients). Seven patients (43.8%) reported worsening of tics since childhood. Six patients (37.5%) had received pharmacological intervention for tics as children, and 15 patients (93.8%) as adults. Six of 15 patients (40.0%) had an effective response from those pharmacological intervention(s). Our study demonstrates that the decline in symptoms as patients age may represent temporary improvement. The latent period lasted years in our patients, different from the more rapid waxing and waning in children. A change in substance use was an important trigger. Requests for pharmacological intervention were not necessarily correlated with worsening tic severity.

  19. Frailty syndrome and socioeconomic and health characteristics among older adults.

    Science.gov (United States)

    Dos Santos Tavares, Darlene Mara; de Freitas Corrêa, Thais Aline; Dias, Flavia Aparecida; Dos Santos Ferreira, Pollyana Cristina; Sousa Pegorari, Maycon

    2017-09-30

    To investigate the association of frailty syndrome with socioeconomic and health variables among older adults. This is a cross-sectional, observational and analytical household research conducted with a sample of 1,609 urban elderly. We used: semi-structured questionnaire, scales (Katz, Lawton and shortened version of Geriatric Depression Scale) and Fragility Phenotype proposed by Fried. Descriptive analysis was performed along with a bivariate and multinomial logistic regression model ( p <0.05). The prevalence of pre-frailty condition was 52.0% and the fragility corresponded to 13.6%. Pre-frailty and frailty associated factors were, respectively: age range between 70-79 years and ≥80 years; one to four morbidities and five or more morbidities categories; functional disability for basic and instrumental activities of daily life and depression indicative; whilst lack of a companion or income and female gender were only associated to pre-frailty. The conditions of pre-frailty and frailty levels were elevated with negative effects on the health of the elderly.

  20. Narrative competence in Spanish-speaking adults with Williams syndrome.

    Science.gov (United States)

    Diez-Itza, Eliseo; Martínez, Verónica; Antón, Aránzazu

    2016-08-01

    Williams syndrome (WS) is a genetic disorder associated with intellectual disability and characterised by displaying an atypical neuropsychological profile, with peaks and valleys, where language skills seem better preserved than non-verbal intelligence. This study researches the narrative competence of nine Spanish-speaking adults with WS. Oral narratives were elicited from a silent film, and narrative coherence was analysed as a function of sequential order of the events narrated at three structure levels, while narrative cohesion was assessed through the frequency of use and type of discourse markers. WS subjects were able to remember a significant proportion of the events from the film, but coherence of narratives, i.e., sequential order of events, was more impaired. Consistently with their linguistic abilities, cohesion of narratives was better preserved, as they used discourse markers to introduce a high proportion of events. Construction of mental models of the narratives may be constrained in WS by non-verbal cognitive abilities, but narrative competence is also determined by textual pragmatic abilities to organize discourse, which should be addressed by specific intervention in narrative competence.

  1. Demographic Characteristics, Health Conditions, and Residential Service Use in Adults with Down Syndrome in 25 U.S. States

    Science.gov (United States)

    Stancliffe, Roger J.; Lakin, K. Charlie; Larson, Sheryl A.; Engler, Joshua; Taub, Sarah; Fortune, Jon; Bershadsky, Julie

    2012-01-01

    This study describes service users with Down syndrome (N = 1,199) and a comparative sample with intellectual and developmental disabilities but not Down syndrome (N = 11,182), drawn from National Core Indicator surveys of adult service users in 25 U.S. states. Individuals with Down syndrome were younger than were individuals without Down syndrome.…

  2. Use Massive Parallel Sequencing and Exome Capture Technology to Sequence the Exome of Fanconi Anemia Children and Their Patents

    Science.gov (United States)

    2013-11-21

    Fanconi Anemia; Autosomal or Sex Linked Recessive Genetic Disease; Bone Marrow Hematopoiesis Failure, Multiple Congenital Abnormalities, and Susceptibility to Neoplastic Diseases.; Hematopoiesis Maintainance.

  3. Prevalence and characteristics of the metabolic syndrome among adults in Beijing, China

    DEFF Research Database (Denmark)

    Li, Gang; de Courten, Maximilian; Jiao, Shufang

    2010-01-01

    , was analyzed. The prevalence of the metabolic syndrome increased with age and the age-standardized prevalence of the metabolic syndrome defined by International Diabetes Federation IDF and National Cholesterol Education Program Adult Treatment Panel III ATPIII criteria were 23.2% (24.5% in men and 22......This study was performed to investigate the prevalence of the metabolic syndrome using a large representative sample in Beijing. Data from a total of 16442 adults (6489 men and 9953 women) aged > or =18 years from a survey of behavioral risk factors for chronic diseases in Beijing, in 2005...

  4. Brief Report: The Use of WAIS-III in Adults with HFA and Asperger Syndrome

    Science.gov (United States)

    Scholte, Evert M.; van Berckelaer-Onnes, Ina A.

    2007-01-01

    The WAIS III was administered to 16 adults with high functioning autism (HFA) and 27 adults with Asperger syndrome. Differences between Verbal Intelligence (VIQ) and Performance Intelligence (PIQ) were not found. Processing Speed problems in people with HFA appeared. At the subtest level, the Asperger syndrome group performed weak on Digit Span. Comprehension and Block Design were relative strengths. In the HFA group, performance on Digit-Symbol Coding and Symbol Search was relatively poor. Strengths were found on Information and Matrix Reasoning. The results suggest that the VIQ-PIQ difference cannot distinguish between HFA and Asperger syndrome. WAIS III Factor Scale and Subtest patterning provides a more valid indicator. PMID:17879152

  5. Estudio multidisciplinario del paciente con anemia de Fanconi

    Directory of Open Access Journals (Sweden)

    Benilde García de Teresa

    2016-02-01

    Full Text Available La anemia de Fanconi es el trastorno medular hereditario más frecuente; sin embargo, es una enfermedad rara cuya prevalencia mundial se estima de 1 a 5 por millón de habitantes. Se ha calculado que la frecuencia de portadores es de 1 en 300, aunque en algunos grupos, como los judíos Askenazí o los gitanos españoles, la frecuencia de portadores es de hasta 1 en 70.1 En México se desconocen estos datos pero en el Laboratorio de Citogenética del Instituto Nacional de Pediatría se diagnostican anualmente cerca de 10 casos nuevos de entre unas 80 muestras provenientes de múltiples instituciones de salud de la República.

  6. Leukocyte apoptosis as a predictor of radiosensitivity in Fanconi anemia

    International Nuclear Information System (INIS)

    Petrovic, Sandra; Leskovac, Andreja; Joksic, Ivana; Filipovic, Jelena; Joksic, Gordana; Vujic, Dragana; Guc-Scekic, Marija

    2013-01-01

    Fanconi anemia (FA) is a rare cancer-prone genetic disease characterized by impaired oxygen metabolism and defects in DNA damage repair. Response of FA cells to ionizing radiation has been an issue intensively debated in the literature. To study in vitro radiosensitivity in patients suffering from FA and their parents (heterozygous carriers), we determined radiation-induced leukocyte apoptosis using flow cytometry. As TP53 gene is involved in the control of apoptosis, we studied its status in FA lymphocytes using dual colour fluorescence in situ hybridization (FISH). FA patients and female heterozygous carriers display radiosensitive response to ionizing radiation seen as abnormal elimination of cells via apoptosis. By employment of FISH, the TP53 allele loss in FA lymphocytes was not observed. In diseases related to oxidative stress, determination of radiation-induced apoptosis is the method of choice for testing the radiosensitivity. (author)

  7. Estudio multidisciplinario del paciente con anemia de Fanconi

    OpenAIRE

    Benilde García de Teresa; Alfredo Rodríguez; Sara Frías

    2016-01-01

    La anemia de Fanconi es el trastorno medular hereditario más frecuente; sin embargo, es una enfermedad rara cuya prevalencia mundial se estima de 1 a 5 por millón de habitantes. Se ha calculado que la frecuencia de portadores es de 1 en 300, aunque en algunos grupos, como los judíos Askenazí o los gitanos españoles, la frecuencia de portadores es de hasta 1 en 70.1 En México se desconocen estos datos pero en el Laboratorio de Citogenética del Instituto Nacional de Pediatría se diagnostican an...

  8. Oral and dental findings in children with Fanconi anemia.

    Science.gov (United States)

    Tekcicek, Meryem; Tavil, Betul; Cakar, Asli; Pinar, Asli; Unal, Selma; Gumruk, Fatma

    2007-01-01

    The purpose of this study was to investigate the oral and dental findings in children with Fanconi anemia (FA). The study included 26 FA patients who came to the hospital (Hacettepe University Faculty of Medicine, Pediatric Hematology Unit) from the central region of Anatolia (17 [65%] mole, 9 [35%] female; mean age = 10.0 +/- 5.2 years (range = 2-18; median = 9 years]). Oral and radiological examinations and salivary collection were performed at the Department of Pediatric Dentistry of Hacettepe University Faculty of Dentistry. Among 26 FA children: (a) 16 (62%) had never visited a dentist; (b) 6 (23%) had visited a dentist once; and (c) 4 (15%) had visited a dentist regularly. Furthermore: (a) only 5 children (19%) brushed their teeth regularly; (b) 7 (27%) had never brushed their teeth previously; and (c) the other 14 (54%) had brushed their teeth rarely. The prevalence of dental caries was 35% in this study's patients. Gingival examination revealed that 9 (35%) children had gingivitis and the other 17 (65%) had normal gingival health status. Examination of the oral cavity revealed that: (a) 3 children (12%) had a coated tongue; and (b) 1 (4%) had papillary atrophy. No leukoplakia or other precancerous lesion was detected in this patient group. Salivary flow rate was less than 0.7 ml/minute in 56% of the patients. No patients had a salivary pH less than 5. Salivary buffering capacity of less than 5, however, was detected in 5 patients (33%). Radiological evaluation revealed that the most common congenital dental abnormalities were: (1) microdontia (44%); (2) congenitally missing teeth (26%); (3) transposition (9%); and (4) supernumerary teeth (4%). These results demonstrate that poor oral hygiene, dental decay, gingivitis, and congenital dental abnormalities--including generalized microdontia, supernumerary teeth, transposition, and congenitally missing teeth--are common oral and dental findings in this group of Turkish children with Fanconi anemia.

  9. Social Perception and WAIS-IV Performance in Adolescents and Adults Diagnosed with Asperger's Syndrome and Autism

    Science.gov (United States)

    Holdnack, James; Goldstein, Gerald; Drozdick, Lisa

    2011-01-01

    Previous research using the Wechsler scales has identified areas of cognitive weaknesses in children, adolescents, and adults diagnosed with Autism or Asperger's syndrome. The current study evaluates cognitive functioning in adolescents and adults diagnosed with Autism or Asperger's syndrome using the Wechsler Adult Intelligence Scale-Fourth…

  10. Processing of Facial Expressions of Emotions by Adults with Down Syndrome and Moderate Intellectual Disability

    Science.gov (United States)

    Carvajal, Fernando; Fernandez-Alcaraz, Camino; Rueda, Maria; Sarrion, Louise

    2012-01-01

    The processing of facial expressions of emotions by 23 adults with Down syndrome and moderate intellectual disability was compared with that of adults with intellectual disability of other etiologies (24 matched in cognitive level and 26 with mild intellectual disability). Each participant performed 4 tasks of the Florida Affect Battery and an…

  11. Siblings of Individuals with Autism or Down Syndrome: Effects on Adult Lives

    Science.gov (United States)

    Orsmond, Gael. I.; Seltzer, M. M.

    2007-01-01

    Background: In this study, we examine instrumental and affective involvement in the sibling relationship for adults who have a brother or sister with an autism spectrum disorder (ASD) or Down syndrome (DS). We ask three research questions: (1) How do adult siblings of individuals with ASD differ from siblings of individuals with DS in their…

  12. Do Adults with High Functioning Autism or Asperger Syndrome Differ in Empathy and Emotion Recognition?

    Science.gov (United States)

    Montgomery, Charlotte B.; Allison, Carrie; Lai, Meng-Chuan; Cassidy, Sarah; Langdon, Peter E.; Baron-Cohen, Simon

    2016-01-01

    The present study examined whether adults with high functioning autism (HFA) showed greater difficulties in (1) their self-reported ability to empathise with others and/or (2) their ability to read mental states in others' eyes than adults with Asperger syndrome (AS). The Empathy Quotient (EQ) and "Reading the Mind in the Eyes" Test…

  13. Movement disorders and other motor abnormalities in adults with 22q11.2 deletion syndrome

    NARCIS (Netherlands)

    Boot, Erik; Butcher, Nancy J.; van Amelsvoort, Thérèse A. M. J.; Lang, Anthony E.; Marras, Connie; Pondal, Margarita; Andrade, Danielle M.; Fung, Wai Lun Alan; Bassett, Anne S.

    2015-01-01

    Movement abnormalities are frequently reported in children with 22q11.2 deletion syndrome (22q11.2DS), but knowledge in this area is scarce in the increasing adult population. We report on five individuals illustrative of movement disorders and other motor abnormalities in adults with 22q11.2DS. In

  14. Self-reported presence and experience of pain in adults with Down syndrome

    NARCIS (Netherlands)

    de Knegt, N.C.; Lobbezoo, F.; Schuengel, Carlo; Evenhuis, H.M.; Scherder, E.J.A.

    2016-01-01

    OBJECTIVE: The aim was to examine whether the presence of pain (based on physical conditions and participants' report) and self-reported pain experience in adults with Down syndrome (DS) differ from general population controls. DESIGN: Cross-sectional study of 224 adults with DS (mean age = 38.1

  15. Implicit Memory in Aging Adults with Mental Retardation with and without Down Syndrome.

    Science.gov (United States)

    Krinsky-McHale, Sharon J.; Devenny, Darlynne A.; Kittler, Phyllis; Silverman, Wayne

    2003-01-01

    This study examined effects of age and IQ on implicit memory in adults with mild or moderate mental retardation with (n=48) and without (n=46) Down syndrome. Although implicit memory showed an age-associated difference and IQ-associated variation in adults with mental retardation, these effects were relatively small, which supported theories…

  16. Knowledge of Metabolic Syndrome in Chinese Adults: Implications for Health Education

    Science.gov (United States)

    Lo, Sally Wai Sze; Chair, Sek Ying; Lee, Iris Fung Kam

    2016-01-01

    Objective: The objective of this study was to assess knowledge of metabolic syndrome (MS) among Chinese adults and provide directions for designing healthcare promotion schemes for improving MS awareness in the community. Design: The study adopted a cross-sectional design and a convenience sampling method. Method: Chinese adults aged 18-65 years…

  17. Psychiatric Comorbidity in Young Adults with a Clinical Diagnosis of Asperger Syndrome

    Science.gov (United States)

    Lugnegard, Tove; Hallerback, Maria Unenge; Gillberg, Christopher

    2011-01-01

    In children with autism spectrum disorders, previous studies have shown high rates of psychiatric comorbidity. To date, studies on adults have been scarce. The aim of the present study was to investigate psychiatric comorbidity in young adults with Asperger syndrome. Participants were 26 men and 28 women (mean age 27 years) with a clinical…

  18. Modeling Fanconi Anemia pathogenesis and therapeutics using integration-free patient-derived iPSCs

    Science.gov (United States)

    Montserrat, Nuria; Tarantino, Carolina; Gu, Ying; Yi, Fei; Xu, Xiuling; Zhang, Weiqi; Ruiz, Sergio; Plongthongkum, Nongluk; Zhang, Kun; Masuda, Shigeo; Nivet, Emmanuel; Tsunekawa, Yuji; Soligalla, Rupa Devi; Goebl, April; Aizawa, Emi; Kim, Na Young; Kim, Jessica; Dubova, Ilir; Li, Ying; Ren, Ruotong; Benner, Chris; del Sol, Antonio; Bueren, Juan; Trujillo, Juan Pablo; Surralles, Jordi; Cappelli, Enrico; Dufour, Carlo; Esteban, Concepcion Rodriguez; Belmonte, Juan Carlos Izpisua

    2014-01-01

    Fanconi Anemia (FA) is a recessive disorder characterized by genomic instability, congenital abnormalities, cancer predisposition and bone marrow failure. However, the pathogenesis of FA is not fully understood partly due to the limitations of current disease models. Here, we derive integration-free induced pluripotent stem cells (iPSCs) from an FA patient without genetic complementation and report in situ gene correction in FA-iPSCs as well as the generation of isogenic FANCA deficient human embryonic stem cell (ESC) lines. FA cellular phenotypes are recapitulated in iPSCs/ESCs and their adult stem/progenitor cell derivatives. By using isogenic pathogenic mutation-free controls as well as cellular and genomic tools, our model serves to facilitate the discovery of novel disease features. We validate our model as a drug-screening platform by identifying several compounds that improve hematopoietic differentiation of FA-iPSCs. These compounds are also able to rescue the hematopoietic phenotype of FA-patient bone marrow cells. PMID:24999918

  19. Metabolic syndrome among urban Indian young adults: prevalence and associated risk factors.

    Science.gov (United States)

    Manjunath, Dinaker; Uthappa, Chengapp Kechamada; Kattula, Sri Rama; Allam, Ramesh Reddy; Chava, Nalini; Oruganti, Ganesh

    2014-09-01

    We estimated the prevalence of metabolic syndrome among urban Indian young adults (18-25 years) as defined by the National Cholesterol Education Program Adult Treatment Panel III (NCEP ATP III), Internation Diabetes Federation (IDF), and Indian consensus statement criteria. We included 473 urban young adults through simple random sampling methodology to estimate the prevalence and associated risk factors for metabolic syndrome. Prevalence of metabolic syndrome was estimated to be 3.6 [95% confidence interval (CI) 2.2-5.8], 6.6% (95% CI 4.6-9.1), and 8.7% (95% CI 6.4-11.6) using the NCEP ATP III, IDF, and Indian consensus statement criteria, respectively. Men had significantly higher waist circumference, systolic blood pressure, fasting blood glucose, and triglycerides, whereas mean concentrations of both high-density lipoprotein cholesterol (HDL-C) and total cholesterol were significantly higher among women. Low HDL-C (38.9%), high blood pressure (26%), and central obesity (16.1%) were the most common component risk factors. Although less than 4% of normal weight adults met the criteria for metabolic syndrome, rates increased in overweight individuals and reached a prevalence of 87% in the obese participants. In all, 61.3% of the total population had one or more risk factors for metabolic syndrome. The prevalence of metabolic syndrome is high among urban young adults in India, and it increased with increase in body mass index (BMI). Each component risk factor in isolated form-increased BMI, smoking, and history of hypertension--is an associated risk factor for metabolic syndrome. Although it is unclear whether metabolic syndrome screening in young Indians as a means to prevent adverse cardiovascular health outcomes is appropriate, healthy lifestyles should nevertheless be encouraged, and young adults should be considered as an important group for cardiovascular risk reduction programs.

  20. Relationship Between Vitamin D Deficiency and Markers of Metabolic Syndrome Among Overweight and Obese Adults.

    Science.gov (United States)

    Kaseb, Fatemeh; Haghighyfard, Kimia; Salami, Maryam-Sadat; Ghadiri-Anari, Akram

    2017-06-01

    In recent years, metabolic syndrome, obesity, diabetes and cardiovascular disease has had a tremendous elevation growth. Many studies have demonstrated negative correlation between vitamin D deficiency and indexes of metabolic syndrome in obese patients. This study was designed to find the relation between vitamin D deficiency and markers of metabolic syndrome among overweight and obese adults referred to obesity center of Shahid Sadoughi hospital in 2014. Eighty-nine overweight and obese adults (79 women and 10 men), who 13 subjects were overweight and 76 subjects were obese were recruited in this cross-sectional study. Total cholesterol, high-density lipoprotein cholesterol, triglyceride, plasma glucose and vitamin D were measured. IDF criteria were used for identifying subjects with metabolic syndrome. Demographic questionnaire was completed. Statistical analysis was performed using SPSS version 16.0. Fisher exact test, logistic regression, and Spearman correlation coefficient were used. The frequency of vitamin D deficiency was 93.2%. According to IDF criteria, the frequency of metabolic syndrome was 36%. There was no significant relationship between vitamin D deficiency and metabolic syndrome. Among metabolic syndrome indicators, there was a significant direct relationship between vitamin D level with FBS (P=0.013) and SBP (P=0.023). There was no significant relationship between vitamin D deficiency and metabolic syndrome. Due to the lack of relationship between vitamin D deficiency and metabolic syndrome, small number of participants in this study and very low case of normal vitamin D level, further studies are needed.

  1. Insomnia is a frequent finding in adults with Asperger syndrome

    OpenAIRE

    Tani, Pekka; Lindberg, Nina; Nieminen-von Wendt, Taina; von Wendt, Lennart; Alanko, Lauri; Appelberg, Björn; Porkka-Heiskanen, Tarja

    2003-01-01

    Abstract Background Asperger syndrome (AS) is a neurodevelopmental disorder belonging to autism spectrum disorders with prevalence rate of 0,35% in school-age children. It has been most extensively studied in childhood while there is scarcity of reports concerning adulthood of AS subjects despite the lifelong nature of this syndrome. In children with Asperger syndrome the initiation and continuity of sleep is disturbed because of the neuropsychiatric deficits inherent of AS. It is probable th...

  2. Trajectories of metabolic syndrome development in young adults.

    Directory of Open Access Journals (Sweden)

    Vivian T W Poon

    Full Text Available Metabolic syndrome (MetS is a constellation of metabolic aberrations that collectively increase the risk for cardiovascular disease and type 2 diabetes. Greater understanding of MetS developments may provide insight into targeted prevention strategies for individuals at greatest risk. The purpose of this study was to i identify distinct patterns of longitudinal MetS development and; ii develop a character profile that differentiates groups by level of MetS risk.Data from the Coronary Artery Risk Development in Young Adults (CARDIA study (n = 3 804; 18-30 y was obtained by limited access application from the National Heart, Lung, and Blood Institute and used for this analysis. MetS, as defined by the Harmonized criteria, was assessed over a 20 year follow-up period. Group-level trajectory analysis identified 4 distinct groups with varying rates of component development [No (23.8% of sample; Low (33.5%; Moderate (35.3%; and High MetS (7.4%]. After adjusting for covariates, individuals in the At-Risk groups (Low, Moderate and High MetS were more likely to be of black ethnicity (1.37, 1.14-1.66, have a family history of cardiovascular disease (1.61, 1.31-1.97 and history of dieting (1.69, 1.20-2.39 when compared to the No Risk trajectory group (No MetS. Conversely, increasing baseline education (0.76, 0.65-0.89 and aerobic fitness (0.55, 0.47-0.64 was inversely associated with At-Risk group membership.Results suggest distinct profiles of MetS development that can be identified by baseline risk factors. Further research is necessary to understand the clinical implication of intermediate MetS development groups with respect to overall cardiometabolic risk.

  3. Thyroid function in adult Nigerians with metabolic syndrome ...

    African Journals Online (AJOL)

    Introduction: metabolic syndrome and thyroid dysfunction are two common disorders encountered in the metabolic clinic. Recently, there has been increased interest in the association between the two disorders because of the similarities between symptoms of hypothyroidism and components of the metabolic syndrome.

  4. Effects of Adult Familiarity on Social Behaviours in Angelman Syndrome

    Science.gov (United States)

    Mount, R.; Oliver, C.; Berg, K.; Horsler, K.

    2011-01-01

    Background: Individuals with Angelman syndrome appear strongly motivated by social contact, but there have been few studies that have examined the relationship between sociability and familiarity. In this study we compared social behaviour in Angelman syndrome when in contact with mothers and strangers. Methods: We systematically manipulated adult…

  5. Prevalence of metabolic syndrome and its components based on a harmonious definition among adults in Morocco

    Directory of Open Access Journals (Sweden)

    El Brini O

    2014-07-01

    Full Text Available Otmane El Brini,1 Omar Akhouayri,1 Allal Gamal,2 Abdelhalem Mesfioui,1 Bouchra Benazzouz1 1Laboratory of Genetic, Neuroendocrinology and Biotechnology, University Ibn Tofail, Faculty of Sciences, Kenitra, Morocco; 2Diagnostic center, Rabat, Morocco Purpose: Metabolic syndrome is a cluster of risk factors for diabetes and cardiovascular diseases that includes central obesity, hypertension, glucose intolerance, high triglyceride, and low high-density lipoprotein cholesterol. Its prevalence is rapidly increasing worldwide. This study aimed to estimate the prevalence of the metabolic syndrome and associated risk factors in a representative sample of Morocco adults using the 2009 joint interim statement definition. Patients and methods: We analyzed data of 820 patients aged 19 years and older. For metabolic syndrome diagnosis, we used the criteria of the recently published joint interim statement (2009. Results: The prevalence of metabolic syndrome is 35.73% among all adults, 18.56% among men, and 40.12% among women. Prevalence increased with age, peaking among those aged 50–59 years. The most common abnormality highlights abdominal obesity (49.15%. Also, half of patients have one or two risk factors for developing this syndrome. Conclusion: The prevalence of metabolic syndrome and associated risk factors is high among adults in Morocco, especially in women. The most prevalent component of metabolic syndrome in our population was abdominal obesity. Keywords: central obesity, hypertension, glucose intolerance, triglyceride, cholesterol

  6. Prevalence of metabolic syndrome and its components based on a harmonious definition among adults in Morocco.

    Science.gov (United States)

    El Brini, Otmane; Akhouayri, Omar; Gamal, Allal; Mesfioui, Abdelhalem; Benazzouz, Bouchra

    2014-01-01

    Metabolic syndrome is a cluster of risk factors for diabetes and cardiovascular diseases that includes central obesity, hypertension, glucose intolerance, high triglyceride, and low high-density lipoprotein cholesterol. Its prevalence is rapidly increasing worldwide. This study aimed to estimate the prevalence of metabolic syndrome and associated risk factors in a representative sample of Morocco adults using the 2009 joint interim statement definition. We analyzed data of 820 patients aged 19 years and older. For metabolic syndrome diagnosis, we used the criteria of the recently published joint interim statement (2009). The prevalence of metabolic syndrome is 35.73% among all adults, 18.56% among men, and 40.12% among women. Prevalence increased with age, peaking among those aged 50-59 years. The most common abnormality highlights abdominal obesity (49.15%). Also, half of patients have one or two risk factors for developing this syndrome. The prevalence of metabolic syndrome and associated risk factors is high among adults in Morocco, especially in women. The most prevalent component of metabolic syndrome in our population was abdominal obesity.

  7. Diagnosis of PFAPA syndrome applied to a cohort of 17 adults with unexplained recurrent fevers.

    Science.gov (United States)

    Cantarini, Luca; Vitale, Antonio; Bartolomei, Beatrice; Galeazzi, Mauro; Rigante, Donato

    2012-01-01

    The pathophysiology of PFAPA syndrome, mainly characterised by regularly recurring periodic fevers associated with aphthous stomatitis, pharyngitis and/or lymphadenitis, and mostly occurring in the paediatric setting, resembles an acquired autoinflammatory disease. The description of PFAPA syndrome in adult patients is largely increasing. To recognise PFAPA syndrome in a group of adult patients evaluated for recurrent fevers in our Rheumatology Unit. To apply current diagnostic criteria for PFAPA syndrome in a group of 359 adults with unexplained recurrent fevers monitored in our Unit between January 2007 and June 2011. We have found 17 out of 359 patients fulfilling the diagnosis of PFAPA syndrome: these patients (10 males, 7 females) were Caucasian with a mean age of 33.3±9.5 years, had recurrent febrile episodes begun at a mean age of 25.9±8.3 years and a mean number of episodes of 8.3±5.2 per year with a mean duration of 5.5±1.8 days. In particular, 7/17 patients had the 3 cardinal signs, the other 10 had a combination of 2 signs. Corticosteroids were given in 14/17 patients; tonsillectomy was performed in 9/17 patients: corticosteroid responsiveness and tonsillectomy efficacy were observed respectively in 11 and 2 patients. Our case highlights the importance of considering PFAPA syndrome in adults presenting with unexplained recurrent fevers and symptoms commonly encountered in general medical practice.

  8. The prevalence of metabolic syndrome among older adults in Ecuador: Results of the SABE survey.

    Science.gov (United States)

    Orces, Carlos H; Gavilanez, Enrique Lopez

    2017-12-01

    To describe the prevalence of metabolic syndrome among older adults in Ecuador. A secondary objective was to examine the relationship between metabolic syndrome and its components and insulin resistance among non-diabetic participants. The National Survey of Health, Wellbeing, and Aging survey was used to examine the prevalence of metabolic syndrome according to demographic, behavioral, and health characteristics of the participants. Logistic regression models adjusted for covariates were used to examine the independent association of metabolic syndrome and its components and insulin resistance in non-diabetic older adults. Of 2298 participants with a mean age of 71.6 (SD 8.1) years, the prevalence of metabolic syndrome was 66.0% (95% CI, 62.6%, 69.3%) in women and 47.1% (95% CI, 43.2%, 50.9) in men. However, even higher prevalence rates were seen among literate individuals, residents from urban areas of the coastal and Andes Mountains region, obese subjects, those diagnosed with diabetes, and participants with≥2 comorbidities. Overall, abdominal obesity followed by elevated blood pressure were the metabolic syndrome components more prevalent and associated with insulin resistance among older Ecuadorians. Moreover, after adjustment for covariates, older adults defined as having metabolic syndrome had a 3-fold higher odds of having insulin resistance as compared with those without. The prevalence of metabolic syndrome is high among older adults in Ecuador. The present findings may assist public health authorities to implement programs of lifestyle and behavioral modification targeting older adults at increased risk for this cardio metabolic disorder. Copyright © 2017 Diabetes India. Published by Elsevier Ltd. All rights reserved.

  9. METABOLIC SYNDROME AND DAILY AMBULATION IN CHILDREN, ADOLESCENTS, AND YOUNG ADULTS

    Science.gov (United States)

    Gardner, Andrew W.; Parker, Donald E.; Krishnan, Sowmya; Chalmers, Laura J.

    2012-01-01

    Purposes To compare daily ambulatory measures in children, adolescents, and young adults with and without metabolic syndrome, and to assess which metabolic syndrome components, demographic measures, and body composition measures are associated with daily ambulatory measures. Methods Two-hundred fifty subjects between the ages of 10 and 30 years were assessed on metabolic syndrome components, demographic and clinical measures, body fat percentage, and daily ambulatory strides, durations, and cadences during seven consecutive days. Forty-five of the 250 subjects had metabolic syndrome, as defined by the International Diabetes Federation. Results Subjects with metabolic syndrome ambulated at a slower daily average cadence than those without metabolic syndrome (13.6 ± 2.2 strides/min vs. 14.9 ± 3.2 strides/min; p=0.012), and they had slower cadences for continuous durations of 60 minutes (p=0.006), 30 minutes (p=0.005), 20 minutes (p=0.003), 5 minutes (p=0.002), and 1 minute (p=0.001). However, the total amount of time spent ambulating each day was not different (p=0.077). After adjustment for metabolic syndrome status, average cadence is linearly associated with body fat percentage (pmetabolic syndrome ambulate more slowly and take fewer strides throughout the day than those without metabolic syndrome, even though the total amount of time spent ambulating is not different. Furthermore, the detrimental influence of metabolic syndrome on ambulatory cadence is primarily a function of body fatness. PMID:22811038

  10. Cognitive behaviour therapy for chronic fatigue syndrome in adults.

    Science.gov (United States)

    Price, Jonathan R; Mitchell, Edward; Tidy, Elizabeth; Hunot, Vivien

    2008-07-16

    Chronic fatigue syndrome (CFS) is a common, debilitating and serious health problem. Cognitive behaviour therapy (CBT) may help to alleviate the symptoms of CFS. To examine the effectiveness and acceptability of CBT for CFS, alone and in combination with other interventions, compared with usual care and other interventions. CCDANCTR-Studies and CCDANCTR-References were searched on 28/3/2008. We conducted supplementary searches of other bibliographic databases. We searched reference lists of retrieved articles and contacted trial authors and experts in the field for information on ongoing/completed trials. Randomised controlled trials involving adults with a primary diagnosis of CFS, assigned to a CBT condition compared with usual care or another intervention, alone or in combination. Data on patients, interventions and outcomes were extracted by two review authors independently, and risk of bias was assessed for each study. The primary outcome was reduction in fatigue severity, based on a continuous measure of symptom reduction, using the standardised mean difference (SMD), or a dichotomous measure of clinical response, using odds ratios (OR), with 95% confidence intervals (CI). Fifteen studies (1043 CFS participants) were included in the review. When comparing CBT with usual care (six studies, 373 participants), the difference in fatigue mean scores at post-treatment was highly significant in favour of CBT (SMD -0.39, 95% CI -0.60 to -0.19), with 40% of CBT participants (four studies, 371 participants) showing clinical response in contrast with 26% in usual care (OR 0.47, 95% CI 0.29 to 0.76). Findings at follow-up were inconsistent. For CBT versus other psychological therapies, comprising relaxation, counselling and education/support (four studies, 313 participants), the difference in fatigue mean scores at post-treatment favoured CBT (SMD -0.43, 95% CI -0.65 to -0.20). Findings at follow-up were heterogeneous and inconsistent. Only two studies compared CBT

  11. [Hemophagocytic syndrome in a patient with adult-onset Still's disease: diagnostic problems].

    Science.gov (United States)

    Zakharova, A Yu; Mutovina, Z Yu; Gordeev, A V; Shestakova, I N

    2015-01-01

    Hemophagocytic syndrome (HPS) is a rare life-threatening condition caused by massive cytokine release from activated macrophages and lymphocytes. The paper depicts the development of HPS in different infections, malignancies, and autoimmune diseases. It describes a clinical case of hemophagocytic syndrome in a 63-year-old female patient with adult-onset Still's disease and high fever accompanied by neutrophil leukocytosis and a drastic left leukocyte count shift, high procalcitonin levels, hepatosplenomegaly, edematous syndrome, and progressive multiple organ dysfunction with the development of disseminated intravascular coagulation and adult respiratory distress syndrome. The diagnosis of HPS was established according to the diagnostic criteria and verified by autopsy: phagocytes in liver and lung tissues.

  12. Dairy food consumption is inversely associated with the risk of the metabolic syndrome in Korean adults.

    Science.gov (United States)

    Kim, J

    2013-07-01

    The present study explored the association between dairy food consumption and the risk of the metabolic syndrome in Korean adults using the most recent nationally representative data. The study sample comprised 4862 Korean adults (≥19 years) who participated in the fifth Korean National Health and Nutrition Examination Surveys. Dairy food consumption was assessed using a food frequency questionnaire. The metabolic syndrome was defined according to the joint interim statement of the International Diabetes Federation and the American Heart Association/National Heart, Lung and Blood Institute. We found that the prevalence of the metabolic syndrome was significantly lower in subjects with higher milk or yogurt consumption (P foods may be associated with a lower risk of the metabolic syndrome. © 2013 The Authors Journal of Human Nutrition and Dietetics © 2013 The British Dietetic Association Ltd.

  13. The Cat Cry Syndrome (5p-) in Adolescents and Adults

    Science.gov (United States)

    Niebuhr, E.

    1971-01-01

    Summarized are clinical findings (including chromosome analysis and dermatoglyphics, as well as cytogenic findings in relatives) on five female and three male patients (age 15 years or older) with the cat cry or cri du chat syndrome. (KW)

  14. Dietary patterns of Korean adults and the prevalence of metabolic syndrome: a cross-sectional study.

    Directory of Open Access Journals (Sweden)

    Hae Dong Woo

    Full Text Available The prevalence of metabolic syndrome has been increasing in Korea and has been associated with dietary habits. The aim of our study was to identify the relationship between dietary patterns and the prevalence of metabolic syndrome. Using a validated food frequency questionnaire, we employed a cross-sectional design to assess the dietary intake of 1257 Korean adults aged 31 to 70 years. To determine the participants' dietary patterns, we considered 37 predefined food groups in principal components analysis. Metabolic syndrome was defined according to the National Cholesterol Education Program Adult Treatment Panel III. The abdominal obesity criterion was modified using Asian guidelines. Prevalence ratios and 95% confidence intervals for the metabolic syndrome were calculated across the quartiles of dietary pattern scores using log binomial regression models. The covariates used in the model were age, sex, total energy intake, tobacco intake, alcohol consumption, and physical activity. The prevalence of metabolic syndrome was 19.8% in men and 14.1% in women. The PCA identified three distinct dietary patterns: the 'traditional' pattern, the 'meat' pattern, and the 'snack' pattern. There was an association of increasing waist circumference and body mass index with increasing score in the meat dietary pattern. The multivariate-adjusted prevalence ratio of metabolic syndrome for the highest quartile of the meat pattern in comparison with the lowest quartile was 1.47 (95% CI: 1.00-2.15, p for trend = 0.016. A positive association between the prevalence of metabolic syndrome and the dietary pattern score was found only for men with the meat dietary pattern (2.15, 95% CI: 1.10-4.21, p for trend = 0.005. The traditional pattern and the snack pattern were not associated with an increased prevalence of metabolic syndrome. The meat dietary pattern was associated with a higher prevalence of metabolic syndrome in Korean male adults.

  15. Dietary patterns of Korean adults and the prevalence of metabolic syndrome: a cross-sectional study.

    Science.gov (United States)

    Woo, Hae Dong; Shin, Aesun; Kim, Jeongseon

    2014-01-01

    The prevalence of metabolic syndrome has been increasing in Korea and has been associated with dietary habits. The aim of our study was to identify the relationship between dietary patterns and the prevalence of metabolic syndrome. Using a validated food frequency questionnaire, we employed a cross-sectional design to assess the dietary intake of 1257 Korean adults aged 31 to 70 years. To determine the participants' dietary patterns, we considered 37 predefined food groups in principal components analysis. Metabolic syndrome was defined according to the National Cholesterol Education Program Adult Treatment Panel III. The abdominal obesity criterion was modified using Asian guidelines. Prevalence ratios and 95% confidence intervals for the metabolic syndrome were calculated across the quartiles of dietary pattern scores using log binomial regression models. The covariates used in the model were age, sex, total energy intake, tobacco intake, alcohol consumption, and physical activity. The prevalence of metabolic syndrome was 19.8% in men and 14.1% in women. The PCA identified three distinct dietary patterns: the 'traditional' pattern, the 'meat' pattern, and the 'snack' pattern. There was an association of increasing waist circumference and body mass index with increasing score in the meat dietary pattern. The multivariate-adjusted prevalence ratio of metabolic syndrome for the highest quartile of the meat pattern in comparison with the lowest quartile was 1.47 (95% CI: 1.00-2.15, p for trend = 0.016). A positive association between the prevalence of metabolic syndrome and the dietary pattern score was found only for men with the meat dietary pattern (2.15, 95% CI: 1.10-4.21, p for trend = 0.005). The traditional pattern and the snack pattern were not associated with an increased prevalence of metabolic syndrome. The meat dietary pattern was associated with a higher prevalence of metabolic syndrome in Korean male adults.

  16. The Fanconi anemia/BRCA gene network in zebrafish: Embryonic expression and comparative genomics

    Energy Technology Data Exchange (ETDEWEB)

    Titus, Tom A.; Yan Yilin; Wilson, Catherine; Starks, Amber M.; Frohnmayer, Jonathan D.; Bremiller, Ruth A.; Canestro, Cristian; Rodriguez-Mari, Adriana; He Xinjun [Institute of Neuroscience, University of Oregon, 1425 E. 13th Avenue, Eugene, OR 97403 (United States); Postlethwait, John H., E-mail: jpostle@uoneuro.uoregon.edu [Institute of Neuroscience, University of Oregon, 1425 E. 13th Avenue, Eugene, OR 97403 (United States)

    2009-07-31

    Fanconi anemia (FA) is a genetic disease resulting in bone marrow failure, high cancer risks, and infertility, and developmental anomalies including microphthalmia, microcephaly, hypoplastic radius and thumb. Here we present cDNA sequences, genetic mapping, and genomic analyses for the four previously undescribed zebrafish FA genes (fanci, fancj, fancm, and fancn), and show that they reverted to single copy after the teleost genome duplication. We tested the hypothesis that FA genes are expressed during embryonic development in tissues that are disrupted in human patients by investigating fanc gene expression patterns. We found fanc gene maternal message, which can provide Fanc proteins to repair DNA damage encountered in rapid cleavage divisions. Zygotic expression was broad but especially strong in eyes, central nervous system and hematopoietic tissues. In the pectoral fin bud at hatching, fanc genes were expressed specifically in the apical ectodermal ridge, a signaling center for fin/limb development that may be relevant to the radius/thumb anomaly of FA patients. Hatching embryos expressed fanc genes strongly in the oral epithelium, a site of squamous cell carcinomas in FA patients. Larval and adult zebrafish expressed fanc genes in proliferative regions of the brain, which may be related to microcephaly in FA. Mature ovaries and testes expressed fanc genes in specific stages of oocyte and spermatocyte development, which may be related to DNA repair during homologous recombination in meiosis and to infertility in human patients. The intestine strongly expressed some fanc genes specifically in proliferative zones. Our results show that zebrafish has a complete complement of fanc genes in single copy and that these genes are expressed in zebrafish embryos and adults in proliferative tissues that are often affected in FA patients. These results support the notion that zebrafish offers an attractive experimental system to help unravel mechanisms relevant not only

  17. The Fanconi anemia/BRCA gene network in zebrafish: Embryonic expression and comparative genomics

    International Nuclear Information System (INIS)

    Titus, Tom A.; Yan Yilin; Wilson, Catherine; Starks, Amber M.; Frohnmayer, Jonathan D.; Bremiller, Ruth A.; Canestro, Cristian; Rodriguez-Mari, Adriana; He Xinjun; Postlethwait, John H.

    2009-01-01

    Fanconi anemia (FA) is a genetic disease resulting in bone marrow failure, high cancer risks, and infertility, and developmental anomalies including microphthalmia, microcephaly, hypoplastic radius and thumb. Here we present cDNA sequences, genetic mapping, and genomic analyses for the four previously undescribed zebrafish FA genes (fanci, fancj, fancm, and fancn), and show that they reverted to single copy after the teleost genome duplication. We tested the hypothesis that FA genes are expressed during embryonic development in tissues that are disrupted in human patients by investigating fanc gene expression patterns. We found fanc gene maternal message, which can provide Fanc proteins to repair DNA damage encountered in rapid cleavage divisions. Zygotic expression was broad but especially strong in eyes, central nervous system and hematopoietic tissues. In the pectoral fin bud at hatching, fanc genes were expressed specifically in the apical ectodermal ridge, a signaling center for fin/limb development that may be relevant to the radius/thumb anomaly of FA patients. Hatching embryos expressed fanc genes strongly in the oral epithelium, a site of squamous cell carcinomas in FA patients. Larval and adult zebrafish expressed fanc genes in proliferative regions of the brain, which may be related to microcephaly in FA. Mature ovaries and testes expressed fanc genes in specific stages of oocyte and spermatocyte development, which may be related to DNA repair during homologous recombination in meiosis and to infertility in human patients. The intestine strongly expressed some fanc genes specifically in proliferative zones. Our results show that zebrafish has a complete complement of fanc genes in single copy and that these genes are expressed in zebrafish embryos and adults in proliferative tissues that are often affected in FA patients. These results support the notion that zebrafish offers an attractive experimental system to help unravel mechanisms relevant not only

  18. Unusual presentation of adult Marfan syndrome as a complex diaphragmatic hiatus hernia.

    Science.gov (United States)

    Thakur, Shruti; Jhobta, Anupam; Sharma, Brij; Chauhan, Arun; Thakur, Charu S

    2017-07-01

    Marfan syndrome is multisystem connective tissue disorder that primarily involves the skeletal, cardiovascular, and ocular systems. The gastrointestinal complications in Marfan syndrome are rare, with only a few case reports described in the literature. We present a 25-year-old woman who presented with acute abdominal pain for 1 day. The imaging features revealed complex diaphragmatic hiatus hernia with organoaxial gastric volvulus. This is a unique case report about an adult patient with Marfan syndrome who presented with symptomatic paraesophageal hernia and organoaxial gastric volvulus. Copyright © 2014. Published by Elsevier Taiwan.

  19. Whole exome sequencing reveals concomitant mutations of multiple FA genes in individual Fanconi anemia patients.

    Science.gov (United States)

    Chang, Lixian; Yuan, Weiping; Zeng, Huimin; Zhou, Quanquan; Wei, Wei; Zhou, Jianfeng; Li, Miaomiao; Wang, Xiaomin; Xu, Mingjiang; Yang, Fengchun; Yang, Yungui; Cheng, Tao; Zhu, Xiaofan

    2014-05-15

    Fanconi anemia (FA) is a rare inherited genetic syndrome with highly variable clinical manifestations. Fifteen genetic subtypes of FA have been identified. Traditional complementation tests for grouping studies have been used generally in FA patients and in stepwise methods to identify the FA type, which can result in incomplete genetic information from FA patients. We diagnosed five pediatric patients with FA based on clinical manifestations, and we performed exome sequencing of peripheral blood specimens from these patients and their family members. The related sequencing data were then analyzed by bioinformatics, and the FANC gene mutations identified by exome sequencing were confirmed by PCR re-sequencing. Homozygous and compound heterozygous mutations of FANC genes were identified in all of the patients. The FA subtypes of the patients included FANCA, FANCM and FANCD2. Interestingly, four FA patients harbored multiple mutations in at least two FA genes, and some of these mutations have not been previously reported. These patients' clinical manifestations were vastly different from each other, as were their treatment responses to androstanazol and prednisone. This finding suggests that heterozygous mutation(s) in FA genes could also have diverse biological and/or pathophysiological effects on FA patients or FA gene carriers. Interestingly, we were not able to identify de novo mutations in the genes implicated in DNA repair pathways when the sequencing data of patients were compared with those of their parents. Our results indicate that Chinese FA patients and carriers might have higher and more complex mutation rates in FANC genes than have been conventionally recognized. Testing of the fifteen FANC genes in FA patients and their family members should be a regular clinical practice to determine the optimal care for the individual patient, to counsel the family and to obtain a better understanding of FA pathophysiology.

  20. Mycoplasma salivarium as a dominant coloniser of Fanconi anaemia associated oral carcinoma.

    Directory of Open Access Journals (Sweden)

    Birgit Henrich

    Full Text Available Mycoplasma salivarium belongs to the class of the smallest self-replicating Tenericutes and is predominantly found in the oral cavity of humans. In general it is considered as a non-pathogenic commensal. However, some reports point to an association with human diseases. M. salivarium was found e.g. as causative agent of a submasseteric abscess, in necrotic dental pulp, in brain abscess and clogged biliary stent. Here we describe the detection of M. salivarium on the surface of a squamous cell carcinoma of the tongue of a patient with Fanconi anaemia (FA. FA is an inherited bone marrow failure syndrome based on defective DNA-repair that increases the risk of carcinomas especially oral squamous cell carcinoma. Employing high coverage, massive parallel Roche/454-next-generation-sequencing of 16S rRNA gene amplicons we analysed the oral microbiome of this FA patient in comparison to that of an FA patient with a benign leukoplakia and five healthy individuals. The microbiota of the FA patient with leukoplakia correlated well with that of the healthy controls. A dominance of Streptococcus, Veillonella and Neisseria species was typically observed. In contrast, the microbiome of the cancer bearing FA patient was dominated by Pseudomonas aeruginosa at the healthy sites, which changed to a predominance of 98% M. salivarium on the tumour surface. Quantification of the mycoplasma load in five healthy, two tumour- and two leukoplakia-FA patients by TaqMan-PCR confirmed the prevalence of M. salivarium at the tumour sites. These new findings suggest that this mycoplasma species with its reduced coding capacity found ideal breeding grounds at the tumour sites. Interestingly, the oral cavity of all FA patients and especially samples at the tumour sites were in addition positive for Candida albicans. It remains to be elucidated in further studies whether M. salivarium can be used as a predictive biomarker for tumour development in these patients.

  1. Expressive language profiles of verbally expressive adolescents and young adults with Down syndrome or fragile X syndrome.

    Science.gov (United States)

    Finestack, Lizbeth H; Abbeduto, Leonard

    2010-10-01

    In this study, the authors examined the expressive language abilities of a subset of highly verbally expressive adolescents and young adults with Down syndrome (DS) and those with fragile X syndrome (FXS) for evidence of syndrome-related differences. FXS gender differences were also examined in an exploratory fashion. The authors evaluated 24 adolescents and young adults with DS, 17 adolescents and young adults with FXS, and 21 children with typical development (TD), with the groups matched on nonverbal mental age. Language ability was examined using the Oral and Written Language Scales (OWLS; Carrow-Woolfolk, 1995) and Developmental Sentence Scoring (DSS; Lee, 1974) scores derived from an oral narrative language sample. Study analyses revealed the following group differences: The FXS group outperformed the DS and TD groups on the OWLS measure; the TD group outperformed both other groups on some of the DSS measures; the FXS group outperformed the DS group on the DSS Sentence Point measure; and females with FXS outperformed males with FXS on several measures. Results contribute to the ongoing construction of the language phenotypes of individuals with DS and individuals with FXS and support the conclusion that there are quantitative rather than qualitative differences in their expressive language profiles.

  2. Fanconi Anemia Proteins and Their Interacting Partners: A Molecular Puzzle

    Science.gov (United States)

    Kaddar, Tagrid; Carreau, Madeleine

    2012-01-01

    In recent years, Fanconi anemia (FA) has been the subject of intense investigations, primarily in the DNA repair research field. Many discoveries have led to the notion of a canonical pathway, termed the FA pathway, where all FA proteins function sequentially in different protein complexes to repair DNA cross-link damages. Although a detailed architecture of this DNA cross-link repair pathway is emerging, the question of how a defective DNA cross-link repair process translates into the disease phenotype is unresolved. Other areas of research including oxidative metabolism, cell cycle progression, apoptosis, and transcriptional regulation have been studied in the context of FA, and some of these areas were investigated before the fervent enthusiasm in the DNA repair field. These other molecular mechanisms may also play an important role in the pathogenesis of this disease. In addition, several FA-interacting proteins have been identified with roles in these “other” nonrepair molecular functions. Thus, the goal of this paper is to revisit old ideas and to discuss protein-protein interactions related to other FA-related molecular functions to try to give the reader a wider perspective of the FA molecular puzzle. PMID:22737580

  3. Identification of the Fanconi Anemia Complementation Group I Gene, FANCI

    Directory of Open Access Journals (Sweden)

    Josephine C. Dorsman

    2007-01-01

    Full Text Available To identify the gene underlying Fanconi anemia (FA complementation group I we studied informative FA-I families by a genome-wide linkage analysis, which resulted in 4 candidate regions together encompassing 351 genes. Candidates were selected via bioinformatics and data mining on the basis of their resemblance to other FA genes/proteins acting in the FA pathway, such as: degree of evolutionary conservation, presence of nuclear localization signals and pattern of tissue-dependent expression. We found a candidate, KIAA1794 on chromosome 15q25-26, to be mutated in 8 affected individuals previously assigned to complementation group I. Western blots of endogenous FANCI indicated that functionally active KIAA1794 protein is lacking in FA-I individuals. Knock-down of KIAA1794 expression by siRNA in HeLa cells caused excessive chromosomal breakage induced by mitomycin C, a hallmark of FA cells. Furthermore, phenotypic reversion of a patient-derived cell line was associated with a secondary genetic alteration at the KIAA1794 locus. These data add up to two conclusions. First, KIAA1794 is a FA gene. Second, this gene is identical to FANCI, since the patient cell lines found mutated in this study included the reference cell line for group I, EUFA592.

  4. Modularized Functions of the Fanconi Anemia Core Complex

    Directory of Open Access Journals (Sweden)

    Yaling Huang

    2014-06-01

    Full Text Available The Fanconi anemia (FA core complex provides the essential E3 ligase function for spatially defined FANCD2 ubiquitination and FA pathway activation. Of the seven FA gene products forming the core complex, FANCL possesses a RING domain with demonstrated E3 ligase activity. The other six components do not have clearly defined roles. Through epistasis analyses, we identify three functional modules in the FA core complex: a catalytic module consisting of FANCL, FANCB, and FAAP100 is absolutely required for the E3 ligase function, and the FANCA-FANCG-FAAP20 and the FANCC-FANCE-FANCF modules provide nonredundant and ancillary functions that help the catalytic module bind chromatin or sites of DNA damage. Disruption of the catalytic module causes complete loss of the core complex function, whereas loss of any ancillary module component does not. Our work reveals the roles of several FA gene products with previously undefined functions and a modularized assembly of the FA core complex.

  5. Intermethod discordance for alpha-fetoprotein measurements in Fanconi anemia.

    Science.gov (United States)

    Cassinat, B; Darsin, D; Guardiola, P; Toubert, M E; Rain, J D; Gluckman, E; Schlageter, M H

    2001-08-01

    The significantly higher serum alpha-fetoprotein (AFP) in patients with Fanconi anemia (FA) than in non-FA aplastic patients has potential diagnostic utility, but the increase is method-dependent. The aim of this study was to compare five AFP assays on FA and non-FA samples and to investigate possible explanations for FA-specific discrepancies. Two methods available in our laboratory (Kryptor and IMx) were compared on 59 FA and 27 non-FA patient samples. Kryptor, Immulite, Elecsys, Immuno-I, and Elsa-2 methods were then compared on 14 FA and 14 non-FA patient samples. The AFP glycosylation profile was analyzed by electrophoretic separation in a lectin-containing gel. With all six methods, AFP values were significantly higher in FA than in non-FA patients, but the diagnostic precision and optimal cutoff values varied. Indeed, two methods reached 100% sensitivity and specificity, but in other methods, one or both of these parameters were significantly <100%. Neither heterophilic antibodies nor a specific glycosylation profile was detected in FA samples. AFP results are method-dependent in FA. New methods must be evaluated before use in differential diagnosis of aplastic patients.

  6. Deferasirox therapy in children with Fanconi aplastic anemia.

    Science.gov (United States)

    Tunç, Bahattin; Tavil, Betul; Karakurt, Neslihan; Yarali, Nese; Azik, Fatih Mehmet; Kara, Abdurrahman; Culha, Vildan; Ozkasap, Serdar

    2012-05-01

    Thirty-nine children with Fanconi aplastic anemia (FAA) have been followed up in our center between January 2008 and November 2010. Eight of these children (20%) with a transfusional iron overload had been undergoing deferasirox treatment during the study period. In the English literature, transfusional iron overload and the use of an iron chelator in children with FAA has not yet been evaluated. Here, we have presented the effectivity and tolerability of deferasirox in children with FAA and a transfusional iron overload. Before the deferasirox treatment, the mean serum ferritin level was 3377 ± 2200 ng/mL. After a mean 13.6-month treatment duration, the mean ferritin level decreased to 2274 ± 1300 ng/mL (Pdeferasirox treatment in patients with FAA. In our series, despite the low number of cases, nephrotoxicity and hepatotoxicity were common side effects instead of gastrointestinal disturbances reported in other studies. Deferasirox is an oral, easily applicable, and effective iron chelator; baseline hepatotoxicity and nephrotoxicity may increase the development of toxic side effects in children with FAA. Patients with FAA receiving deferasirox treatment should be followed up closely for these side effects.

  7. Fanconi anemia: correlating central nervous system malformations and genetic complementation groups

    Energy Technology Data Exchange (ETDEWEB)

    Johnson-Tesch, Benjamin A. [University of Minnesota, Department of Radiology, Minneapolis, MN (United States); Gawande, Rakhee S.; Nascene, David R. [University of Minnesota, Department of Radiology, Neuroradiology Section, Minneapolis, MN (United States); Zhang, Lei [University of Minnesota, Biostatistical Design and Analysis Centre, Minneapolis, MN (United States); MacMillan, Margaret L. [University of Minnesota, Blood and Marrow Transplant Program, Department of Pediatrics, Minneapolis, MN (United States)

    2017-06-15

    Congenital central nervous system abnormalities in children with Fanconi anemia are poorly characterized, especially with regard to specific genetic complementation groups. To characterize the impact of genetic complementation groups on central nervous system anatomy. Through chart review we identified 36 patients with Fanconi anemia with available brain MRIs at the University of Minnesota (average age, 11.3 years; range, 1-43 years; M:F=19:17), which we reviewed and compared to 19 age- and sex-matched controls (average age, 7.9 years; range, 2-18 years; M:F=9:10). Genotypic information was available for 27 patients (15 FA-A, 2 FA-C, 3 FA-G, and 7 FA-D1 [biallelic mutations in BRCA2 gene]). Of the 36 patients, 61% had at least one congenital central nervous system or skull base abnormality. These included hypoplastic clivus (n=12), hypoplastic adenohypophysis (n=11), platybasia (n=8), pontocerebellar hypoplasia (n=7), isolated pontine hypoplasia (n=4), isolated vermis hypoplasia (n=3), and ectopic neurohypophysis (n=6). Average pituitary volume was significantly less in patients with Fanconi anemia (P<0.0001) than in controls. Basal angle was significantly greater in Fanconi anemia patients (P=0.006), but the basal angle of those with FA-D1 was not significantly different from controls (P=0.239). Clivus length was less in the Fanconi anemia group (P=0.002), but significance was only observed in the FA-D1 subgroup (P<0.0001). Of the seven patients meeting criteria for pontocerebellar hypoplasia, six belonged to the FA-D1 group. Patients with Fanconi anemia have higher incidences of ectopic neurohypophysis, adenohypophysis hypoplasia, platybasia and other midline central nervous system skull base posterior fossa abnormalities than age- and sex-matched controls. Patients with posterior fossa abnormalities, including pontocerebellar hypoplasia, are more likely to have biallelic BRCA2 mutations. (orig.)

  8. Fanconi anemia: correlating central nervous system malformations and genetic complementation groups

    International Nuclear Information System (INIS)

    Johnson-Tesch, Benjamin A.; Gawande, Rakhee S.; Nascene, David R.; Zhang, Lei; MacMillan, Margaret L.

    2017-01-01

    Congenital central nervous system abnormalities in children with Fanconi anemia are poorly characterized, especially with regard to specific genetic complementation groups. To characterize the impact of genetic complementation groups on central nervous system anatomy. Through chart review we identified 36 patients with Fanconi anemia with available brain MRIs at the University of Minnesota (average age, 11.3 years; range, 1-43 years; M:F=19:17), which we reviewed and compared to 19 age- and sex-matched controls (average age, 7.9 years; range, 2-18 years; M:F=9:10). Genotypic information was available for 27 patients (15 FA-A, 2 FA-C, 3 FA-G, and 7 FA-D1 [biallelic mutations in BRCA2 gene]). Of the 36 patients, 61% had at least one congenital central nervous system or skull base abnormality. These included hypoplastic clivus (n=12), hypoplastic adenohypophysis (n=11), platybasia (n=8), pontocerebellar hypoplasia (n=7), isolated pontine hypoplasia (n=4), isolated vermis hypoplasia (n=3), and ectopic neurohypophysis (n=6). Average pituitary volume was significantly less in patients with Fanconi anemia (P<0.0001) than in controls. Basal angle was significantly greater in Fanconi anemia patients (P=0.006), but the basal angle of those with FA-D1 was not significantly different from controls (P=0.239). Clivus length was less in the Fanconi anemia group (P=0.002), but significance was only observed in the FA-D1 subgroup (P<0.0001). Of the seven patients meeting criteria for pontocerebellar hypoplasia, six belonged to the FA-D1 group. Patients with Fanconi anemia have higher incidences of ectopic neurohypophysis, adenohypophysis hypoplasia, platybasia and other midline central nervous system skull base posterior fossa abnormalities than age- and sex-matched controls. Patients with posterior fossa abnormalities, including pontocerebellar hypoplasia, are more likely to have biallelic BRCA2 mutations. (orig.)

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

    Science.gov (United States)

    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…

  10. Liver enzymes and markers of inflammation in Nigerian adults with metabolic syndrome

    Directory of Open Access Journals (Sweden)

    Udenze Ifeoma Christiana

    2015-01-01

    Full Text Available Aims and objectives: The aim of this study is to determine the plasma levels of the liver enzymes alanine aminotransferase (ALT, aspartate aminotransferase (AST, alkaline phosphatase (ALP, gamma-glutamyl transferase (GGT, and lactate dehydrogenase (LDH in people with metabolic syndrome and to determine the association between the liver enzymes and obesity, insulin resistance, interleukin 6 (IL-6, and C-reactive protein (CRP in adult Nigerians with metabolic syndrome. Materials and Methods: This was a case control study of 50 adult men and women with metabolic syndrome, and 50 age- and sex-matched males and females without metabolic syndrome. Metabolic syndrome was defined based on the National Cholesterol Education Program (NCEP-Adult Treatment Panel III (ATPIII criteria. Written informed consent was obtained from the participants. Sociodemographic and clinical data were collected using a structured questionnaire. Venous blood was collected after an overnight fast. The ethics committee of the Lagos University Teaching Hospital in Lagos, Nigeria, approved the study protocol. Comparison of continuous variables was done using the student′s t-test. Regression and correlation analysis were used to determine the associations between variables. Statistical significance was set at P < 0.05. Results: There was a statistically significant increase in the liver enzymes ALP (P = 0.031, ALT (P = 0.019, and GGT (P = 0.037, as well as in the inflammatory markers CRP (P = 0.019 and the cytokine IL-6 (P = 0.040 between the two study groups. ALP and ALT showed significant correlation with waist circumference, BMI, fasting insulin, and waist/hip ratio (P < 0.05. Multivariate regression also identified ALT, AST, and ALP to be associated with IL-6 and CRP (P < 0.05. Conclusion: Liver enzyme levels were increased in metabolic syndrome and associated with obesity, fasting insulin, and CRP. Elevated liver enzymes may indicate dysmetabolism and increased

  11. Differentiating Aging Among Adults With Down Syndrome and Comorbid Dementia or Psychopathology.

    Science.gov (United States)

    Esbensen, Anna J; Johnson, Emily Boshkoff; Amaral, Joseph L; Tan, Christine M; Macks, Ryan

    2016-01-01

    Differences were examined between three groups of adults with Down syndrome in their behavioral presentation, social life/activities, health, and support needs. We compared those with comorbid dementia, with comorbid psychopathology, and with no comorbid conditions. Adults with comorbid dementia were more likely to be older, have lower functional abilities, have worse health and more health conditions, and need more support in self-care. Adults with comorbid psychopathology were more likely to exhibit more behavior problems and to be living at home with their families. Adults with no comorbidities were most likely to be involved in community employment. Differences in behavioral presentation can help facilitate clinical diagnoses in aging in Down syndrome, and implications for differential diagnosis and service supports are discussed.

  12. Serum uric acid and appropriate cutoff value for prediction of metabolic syndrome among Chinese adults.

    Science.gov (United States)

    Zhang, Mei-Lin; Gao, Yu-Xia; Wang, Xuan; Chang, Hong; Huang, Guo-Wei

    2013-01-01

    The relation between serum uric acid and metabolic syndrome is observed not only with frank hyperuricemia but also with serum uric acid levels within the normal range. The current "normal" range set for hyperuricemia often fails to identify patients with potential metabolic disorders. We investigate the association between serum uric acid within the normal range and incident metabolic syndrome risk, and further to determine the optimal cut-off value of serum uric acid for the diagnosis or prediction of metabolic syndrome. A total of 7399 Chinese adults (2957 men and 4442 women; ≥20 years) free of metabolic syndrome were followed for 3 years. During the 3-year follow-up, 1190 normouricemic individuals developed metabolic syndrome (16.1%). After adjusting the associated variables, the top quartile of serum uric acid levels was associated with higher metabolic syndrome development compared with the bottom quartile in men (hazard ratio (HR), 1.29; puric acid to identify metabolic syndrome were 6.3 mg/dl in men and 4.9 mg/dl in women. Our results suggested that high baseline serum uric acid levels within the normal range predict future development of metabolic syndrome after 3 y of follow-up.

  13. Successful Treatment of Fanconi Anemia and T-Cell Acute Lymphoblastic Leukemia

    Directory of Open Access Journals (Sweden)

    Terrie Flatt

    2012-01-01

    Full Text Available Fanconi anemia is associated with an increased risk of malignancy. Patients are sensitive to the toxic effects of chemotherapy. We report the case of a patient with Fanconi anemia who developed T-cell acute lymphoblastic leukemia. He experienced chemotherapy-related complications including prolonged neutropenia, grade IV vincristine neuropathy, and disseminated aspergillosis. He was successfully treated with modified dosing of cytarabine and intrathecal methotrexate followed by allogeneic bone marrow transplant. The aspergillosis was treated with systemic antifungal treatment and surgical resection. Now 30 months after bone marrow transplant the patient is without evidence of aspergillosis or leukemia.

  14. Association between dietary patterns and the risk of metabolic syndrome among Lebanese adults

    OpenAIRE

    Naja, F.; Nasreddine, L.; Itani, L.; Adra, N.; Sibai, A. M.; Hwalla, N.

    2011-01-01

    Purpose The main objective of this study was to evaluate the association between dietary patterns and the metabolic syndrome (MetS) and its metabolic abnormalities among Lebanese adults, using data from a national nutrition survey. Methods A cross-sectional analysis involving adults aged ?18?years (n?=?323) with no prior history of chronic diseases was conducted. Participants completed a brief sociodemographic and 61-item food frequency questionnaire. Anthropometric measurements and fasting b...

  15. Cerebellar Mutism Syndrome and Other Complications After Surgery in the Posterior Fossa in Adults

    DEFF Research Database (Denmark)

    Wibroe, Morten; Rochat, Per; Juhler, Marianne

    2018-01-01

    BACKGROUND: Cerebellar mutism syndrome (CMS) is rarely described in adults; however, data on self-assessed linguistic complications after posterior fossa surgery do not exist. METHODS: Through a prospective single-center study, data on 59 tumor operations in the posterior fossa were collected pre...... of the few known risk factors for CMS in children. Thus, the cerebellar midline seems to be a vulnerable region for speech and language complications also in adults....

  16. Empathising and Systemising in Adults with and without Asperger Syndrome

    Science.gov (United States)

    Lawson, John; Baron-Cohen, Simon; Wheelwright, Sally

    2004-01-01

    An experiment was devised to test the empathising-systemising (E-S) theory of autism. Three groups of participants took part in the study: males with Asperger Syndrome (AS) (n = 18), males without AS, (n = 44) and females from the general population (n = 45). Each participant completed two tasks: one that involved empathising and another that…

  17. Posterior reversible encephalopathy syndrome in a adult female

    African Journals Online (AJOL)

    Oyinloye, et al.: Posterior reversible encephalopathy syndrome. Annals of African Medicine. Vol. 13, July-September, 2014. Page | 139. Classic neuroimaging applied to patients shows edema involving the white matter in the posterior portions of the cerebral hemispheres, especially bilaterally in the parieto‑occipital regions.

  18. Communication and Self-Esteem in Adults with Down Syndrome

    Science.gov (United States)

    Jackson, Claire; Cavenagh, Penny; Clibbens, John

    2014-01-01

    Background: It is estimated that around 50-90% of people with learning disabilities experience difficulties in communicating. Previous research has linked communication difficulties and self-esteem in other populations, yet this relationship has not previously been investigated for people with Down syndrome. Aims: To explore the relationship…

  19. Prevalence of metabolic syndrome among apparently healthy adults ...

    African Journals Online (AJOL)

    Background: Metabolic syndrome (MetS) is a cluster of multiple metabolic abnormalities that increases the risk of cardiovascular morbidity and mortality, and a resultant severe economic implication.This study assessed the burden of MetS in a Nigerian rural community setting. Method: This was a cross-sectional, community ...

  20. Quality of life in adults with Noonan syndrome

    NARCIS (Netherlands)

    Wingbermühle, P.A.M.; Nobbe, F.; Roelofs, R.L.; Burgt, C.J.A.M. van der; Kessels, R.P.C.; Egger, J.I.M.

    2016-01-01

    Objective: Noonan syndrome (NS) is a genetic disorder related to mutations in the RAS-MAPK pathway. Cardinal features include short stature, facial dysmorphia, congenital heart defects, subtle cognitive decrements and a slightly lowered mean IQ (≈ 90). These characteristics may bring about lowered

  1. Prader-Willi Syndrome in Two Institutionalized Older Adults.

    Science.gov (United States)

    Goldman, Jeri J.

    1988-01-01

    Two case reports are presented of institutionalized women who were diagnosed as having Prader-Willi syndrome at the ages of 54 and 69. Implications are discussed for management of such persons and for program planning/funding for a much longer life expectancy than earlier realized. (Author/JDD)

  2. Propofol Infusion Syndrome in Adults: A Clinical Update

    Directory of Open Access Journals (Sweden)

    Aibek E. Mirrakhimov

    2015-01-01

    Full Text Available Propofol infusion syndrome is a rare but extremely dangerous complication of propofol administration. Certain risk factors for the development of propofol infusion syndrome are described, such as appropriate propofol doses and durations of administration, carbohydrate depletion, severe illness, and concomitant administration of catecholamines and glucocorticosteroids. The pathophysiology of this condition includes impairment of mitochondrial beta-oxidation of fatty acids, disruption of the electron transport chain, and blockage of beta-adrenoreceptors and cardiac calcium channels. The disease commonly presents as an otherwise unexplained high anion gap metabolic acidosis, rhabdomyolysis, hyperkalemia, acute kidney injury, elevated liver enzymes, and cardiac dysfunction. Management of overt propofol infusion syndrome requires immediate discontinuation of propofol infusion and supportive management, including hemodialysis, hemodynamic support, and extracorporeal membrane oxygenation in refractory cases. However, we must emphasize that given the high mortality of propofol infusion syndrome, the best management is prevention. Clinicians should consider alternative sedative regimes to prolonged propofol infusions and remain within recommended maximal dose limits.

  3. Burden and impact of congenital syndromes and comorbidities among adults with congenital heart disease.

    Science.gov (United States)

    Bracher, Isabelle; Padrutt, Maria; Bonassin, Francesca; Santos Lopes, Bruno; Gruner, Christiane; Stämpfli, Simon F; Oxenius, Angela; De Pasquale, Gabriella; Seeliger, Theresa; Lüscher, Thomas F; Attenhofer Jost, Christine; Greutmann, Matthias

    2017-08-01

    Our aim was to assess the overall burden of congenital syndromes and non-cardiac comorbidities among adults with congenital heart disease and to assess their impact on circumstances of living and outcomes. Within a cohort of 1725 adults with congenital heart defects (65% defects of moderate or great complexity) followed at a single tertiary care center, congenital syndromes and comorbidities were identified by chart review. Their association with arrhythmias, circumstances of living and survival was analyzed. Within the study cohort, 232 patients (13%) had a genetic syndrome, 51% at least one comorbidity and 23% ≥2 comorbidities. Most prevalent comorbidities were systemic arterial hypertension (11%), thyroid dysfunction (9%), psychiatric disorders (9%), neurologic disorders (7%), chronic lung disease (7%), and previous stroke (6%). In contrast to higher congenital heart defect complexity, the presence of comorbidities had no impact on living circumstances but patients with comorbidities were less likely to work full-time. Atrial arrhythmias were more common among patients with moderate/great disease complexity and those with comorbidities but were less common among patients with congenital syndromes (pCongenital syndromes and comorbidities are highly prevalent in adults with congenital heart disease followed at specialist centers and add to the overall complexity of care. The presence of these additional factors has an impact on living circumstances, is associated with arrhythmias and needs to be further explored as prognostic markers. Copyright © 2017 Elsevier B.V. All rights reserved.

  4. White matter integrity in Asperger syndrome: a preliminary diffusion tensor magnetic resonance imaging study in adults.

    Science.gov (United States)

    Bloemen, Oswald J N; Deeley, Quinton; Sundram, Fred; Daly, Eileen M; Barker, Gareth J; Jones, Derek K; van Amelsvoort, Therese A M J; Schmitz, Nicole; Robertson, Dene; Murphy, Kieran C; Murphy, Declan G M

    2010-10-01

    Autistic Spectrum Disorder (ASD), including Asperger syndrome and autism, is a highly genetic neurodevelopmental disorder. There is a consensus that ASD has a biological basis, and it has been proposed that it is a "connectivity" disorder. Diffusion Tensor Magnetic Resonance Imaging (DT-MRI) allows measurement of the microstructural integrity of white matter (a proxy measure of "connectivity"). However, nobody has investigated the microstructural integrity of whole brain white matter in people with Asperger syndrome. We measured the fractional anisotropy (FA), mean diffusivity (MD) and radial diffusivity (RD) of white matter, using DT-MRI, in 13 adults with Asperger syndrome and 13 controls. The groups did not differ significantly in overall intelligence and age. FA, MD and RD were assessed using whole brain voxel-based techniques. Adults with Asperger syndrome had a significantly lower FA than controls in 13 clusters. These were largely bilateral and included white matter in the internal capsule, frontal, temporal, parietal and occipital lobes, cingulum and corpus callosum. Adults with Asperger syndrome have widespread significant differences from controls in white matter microstructural integrity.

  5. Prevalence and characteristics of the metabolic syndrome among adults in Beijing, China

    DEFF Research Database (Denmark)

    Li, Gang; de Courten, Maximilian; Jiao, Shufang

    2010-01-01

    This study was performed to investigate the prevalence of the metabolic syndrome using a large representative sample in Beijing. Data from a total of 16442 adults (6489 men and 9953 women) aged > or =18 years from a survey of behavioral risk factors for chronic diseases in Beijing, in 2005, was a.......7% in women) and 16.2% (16.1% in men and 16.6% in women), respectively. The metabolic syndrome was higher in semi-urban areas and associated with higher rates of hypertension, central obesity, salt intake and smoking.......This study was performed to investigate the prevalence of the metabolic syndrome using a large representative sample in Beijing. Data from a total of 16442 adults (6489 men and 9953 women) aged > or =18 years from a survey of behavioral risk factors for chronic diseases in Beijing, in 2005......, was analyzed. The prevalence of the metabolic syndrome increased with age and the age-standardized prevalence of the metabolic syndrome defined by International Diabetes Federation IDF and National Cholesterol Education Program Adult Treatment Panel III ATPIII criteria were 23.2% (24.5% in men and 22...

  6. Serum adipocytokine profile and metabolic syndrome in young adult female dermatomyositis patients.

    Science.gov (United States)

    Silva, Marilda Guimarães; Borba, Eduardo Ferreira; Mello, Suzana Beatriz Veríssimo de; Shinjo, Samuel Katsuyuki

    2016-12-01

    To analyse the frequency of metabolic syndrome in young adult female dermatomyositis patients and its possible association with clinical and laboratory dermatomyositis-related features and serum adipocytokines. This cross-sectional study included 35 dermatomyositis patients and 48 healthy controls. Metabolic syndrome was defined according to the 2009 Joint Interim Statement. Patient age was comparable in the dermatomyositis and control groups, and the median disease duration was 1.0 year. An increased prevalence of metabolic syndrome was detected in the dermatomyositis group (34.3% vs. 6.3%; p=0.001). In addition, increased serum adiponectin and resistin levels were noted in contrast to lower leptin levels. In dermatomyositis patients, adipocytokine levels were correlated with the levels of total cholesterol, low-density cholesterol, triglycerides and muscle enzymes. A comparison of dermatomyositis patients with (n=12) and without (n=23) syndrome metabolic revealed that adipocytokine levels were also correlated with age, and that dermatomyositis patients with metabolic syndrome tended to have more disease activity despite similar adipocytokine levels. Metabolic syndrome is highly prevalent in young adult female dermatomyositis patients and is related to age and disease activity. Moreover, increased serum adiponectin and resistin levels were detected in dermatomyositis patients, but lower serum leptin levels were observed.

  7. Prevalence of obesity and metabolic syndrome components in Mexican adults without type 2 diabetes or hypertension.

    Science.gov (United States)

    Rojas-Martínez, Rosalba; Aguilar-Salinas, Carlos A; Jiménez-Corona, Aída; Gómez-Pérez, Francisco J; Barquera, Simón; Lazcano-Ponce, Eduardo

    2012-01-01

    To describe the number of Mexican adults with undiagnosed diabetes and arterial hypertension and their association with obesity. The study included a sub-sample of 6 613 subjects aged 20 years or more who participated in the 2006 National Health and Nutrition Survey (ENSANUT 2006). Subjects with a previous diagnosis of diabetes or hypertension (n=1 861) were excluded. Prevalences and standard errors were estimated, taking into account the complex sample design. 6.4 million adults have obesity and undiagnosed impaired fasting glucose. Almost two million more have fasting glucose levels diagnostic for diabetes. As for arterial blood pressure, 5.4 million adults had prehypertension. Another 5.4 million adults had blood pressure levels suggestive of probable hypertension. A total of 21.4 million Mexican adults with obesity had at least one further component of the metabolic syndrome. A large proportion of adults with obesity-related metabolic comorbidities remains undiagnosed in Mexico.

  8. Do Adults with High Functioning Autism or Asperger Syndrome Differ in Empathy and Emotion Recognition?

    Science.gov (United States)

    Montgomery, Charlotte B; Allison, Carrie; Lai, Meng-Chuan; Cassidy, Sarah; Langdon, Peter E; Baron-Cohen, Simon

    2016-06-01

    The present study examined whether adults with high functioning autism (HFA) showed greater difficulties in (1) their self-reported ability to empathise with others and/or (2) their ability to read mental states in others' eyes than adults with Asperger syndrome (AS). The Empathy Quotient (EQ) and 'Reading the Mind in the Eyes' Test (Eyes Test) were compared in 43 adults with AS and 43 adults with HFA. No significant difference was observed on EQ score between groups, while adults with AS performed significantly better on the Eyes Test than those with HFA. This suggests that adults with HFA may need more support, particularly in mentalizing and complex emotion recognition, and raises questions about the existence of subgroups within autism spectrum conditions.

  9. Narrative Discourse in Adults with High-Functioning Autism or Asperger Syndrome

    Science.gov (United States)

    Colle, Livia; Baron-Cohen, Simon; Wheelwright, Sally; van der Lely, Heather K. J.

    2008-01-01

    We report a study comparing the narrative abilities of 12 adults with high-functioning autism (HFA) or Asperger Syndrome (AS) versus 12 matched controls. The study focuses on the use of referential expressions (temporal expressions and anaphoric pronouns) during a story-telling task. The aim was to assess pragmatics skills in people with HFA/AS in…

  10. Behavioural Excesses and Deficits Associated with Dementia in Adults Who Have Down Syndrome

    Science.gov (United States)

    Oliver, Chris; Kalsy, Sunny; McQuillan, Sharna; Hall, Scott

    2011-01-01

    Background: Informant-based assessment of behavioural change and difference in dementia in Down syndrome can aid diagnosis and inform service delivery. To date few studies have examined the impact of different types of behavioural change. Methods: The Assessment for Adults with Developmental Disabilities (AADS), developed for this study, assesses…

  11. Late-Onset visceral presentation with cardiomyopathy and without neurological symptoms of adult Sanfilippo A syndrome.

    NARCIS (Netherlands)

    Hove, J.L. van; Wevers, R.A.; Cleemput, J. van; Moerman, P.; Sciot, R.; Matthijs, G.; Schollen, E.; Jong, J.G.N. de; Carey, W.F.; Muller, V.; Nicholls, C.; Perkins, K.; Hopwood, J.J.

    2003-01-01

    Sanfilippo A syndrome, mucopolysaccharidosis type IIIA, is caused by a deficiency of heparan sulphamidase activity, and usually presents in childhood with neurodegeneration leading to death in teenage years. Visceral symptoms are limited to coarsening and diarrhea. We now describe an adult patient

  12. Late-onset visceral presentation with cardiomyopathy and without neurological symptoms of adult Sanfilippo A syndrome

    NARCIS (Netherlands)

    Van Hove, JLK; Wevers, RA; Van Cleemput, J; Moerman, P; Sciot, R; Matthijs, G; Schollen, E; de Jong, JGN; Carey, WF; Muller, [No Value; Nicholls, C; Perkins, K; Hopwood, JJ

    2003-01-01

    Sanfilippo A syndrome, mucopolysaccharidosis type IIIA, is caused by a deficiency of heparan sulphamidase activity, and usually presents in childhood with neurodegeneration leading to death in teenage years. Visceral symptoms are limited to coarsening and diarrhea. We now describe an adult patient

  13. Pragmatic inferences in high-functioning adults with autism and Asperger syndrome.

    NARCIS (Netherlands)

    Pijnacker, J.; Hagoort, P.; Buitelaar, J.K.; Teunisse, J.P.W.M.; Geurts, B.

    2009-01-01

    Although people with autism spectrum disorders (ASD) often have severe problems with pragmatic aspects of language, little is known about their pragmatic reasoning. We carried out a behavioral study on high-functioning adults with autistic disorder (n = 11) and Asperger syndrome (n = 17) and matched

  14. Pragmatic Inferences in High-Functioning Adults with Autism and Asperger Syndrome

    NARCIS (Netherlands)

    Pijnacker, J.; Hagoort, P.; Buitelaar, J.K.; Teunisse, J.P.W.M.; Geurts, L.B.W.

    2009-01-01

    Although people with autism spectrum disorders (ASD) often have severe problems with pragmatic aspects of language, little is known about their pragmatic reasoning. We carried out a behavioral study on high-functioning adults with autistic disorder (n = 11) and Asperger syndrome (n = 17) and matched

  15. Nutritional Status and Risk Factors for Chronic Disease in Urban-Dwelling Adults with Down Syndrome

    Science.gov (United States)

    Braunschweig, Carol L.; Gomez, Sandra; Sheean, Patricia; Tomey, Kristin M.; Rimmer, James; Heller, Tamar

    2004-01-01

    Nutritional status and biochemical risk factors for chronic disease were assessed in 48 community-dwelling adults with Down syndrome in the Chicago area. Dietary intake was measured using a food frequency questionnaire completed by the participant's primary caregiver; anthropometric measures included height and weight and waist circumference.…

  16. Effects of Detraining on Anthropometry, Aerobic Capacity and Functional Ability in Adults with Down Syndrome

    Science.gov (United States)

    Boer, P. H.

    2018-01-01

    Background: Structured exercise has shown to improve parameters of functional fitness in adults with Down syndrome (DS). However, few, if any, continue to exercise after exercise intervention studies. Consequently, the purpose of this study was to determine the effects of detraining on anthropometry, aerobic capacity and functional ability of…

  17. Serological screening for celiac disease in adult Chinese patients with diarrhea predominant irritable bowel syndrome

    NARCIS (Netherlands)

    H. Wang (Hongling); G. Zhou (Guoying); L. Luo (Linjie); J.B.A. Crusius; A. Yuan (Anlong); J. Kou (Jiguang); G. Yang (Guifang); M. Wang (Min); J. Wu (Jing); B.M.E. von Blomberg (Mary); S.A. Morré (Servaas); A. Salvador Pena; B. Xia (Bing)

    2015-01-01

    textabstractCeliac disease (CD) is common in Caucasians, but thought to be rare in Asians. Our aim was to determine the prevalence of CD in Chinese patients with chronic diarrhea predominant irritable bowel syndrome (IBS-D). From July 2010 to August 2012, 395 adult patients with IBS-D and 363 age

  18. Aging in Adults with Down Syndrome: Report from a Longitudinal Study.

    Science.gov (United States)

    Burt, Diana B.; And Others

    1995-01-01

    Changes in functioning related to aging were examined over a 3- to 4-year period in 34 adults (ages 22-56) with Down syndrome. Changes related to aging were minimal; neither effects of age at entry nor change over time were significant. IQ at entry significantly affected performance on neuropsychological and behavioral measures. (Author/SW)

  19. Identifying metabolic syndrome without blood tests in young adults: The Terneuzen Birth Cohort

    NARCIS (Netherlands)

    Kroon, M.L.A. de; Renders, C.M.; Kuipers, E.C.C.; Wouwe, J.P. van; Buuren, S. van; Jonge, G.A. de; Hirasing, R.A.

    2008-01-01

    Background: Within the context of the obesity epidemic identifying young adults at risk for type 2 diabetes and cardiovascular disease is important. A practical approach is based on the identification of metabolic syndrome (MetS). Our objective was to develop a simple and efficient stepwise strategy

  20. Metabolic Syndrome and Short-Term Heart Rate Variability in Adults with Intellectual Disabilities

    Science.gov (United States)

    Chang, Yaw-Wen; Lin, Jin-Ding; Chen, Wei-Liang; Yen, Chia-Feng; Loh, Ching-Hui; Fang, Wen-Hui; Wu, Li-Wei

    2012-01-01

    Metabolic syndrome (MetS) increases the risk of cardiovascular events. Heart rate variability (HRV) represents autonomic functioning, and reduced HRV significantly increases cardiovascular mortality. The aims of the present paper are to assess the prevalence of MetS in adults with intellectual disabilities (ID), the difference in short-term HRV…

  1. Characterization of Self-Injurious Behaviors in Children and Adults with Smith-Magenis Syndrome.

    Science.gov (United States)

    Finucane, Brenda; Dirrigl, Karen Haines; Simon, Elliot W.

    2001-01-01

    This study examined the prevalence and severity of self-injurious behavior (SIB) in 29 children and adults with Smith-Magenis syndrome, a genetic disorder usually involving moderate mental retardation. Findings confirmed the near universal presence of SIB in this population. The overall prevalence of SIB increased with age. Number of types of SIB…

  2. "It's All Changed:" Carers' Experiences of Caring for Adults Who Have Down's Syndrome and Dementia

    Science.gov (United States)

    McLaughlin, Katrina; Jones, Aled

    2011-01-01

    A qualitative interview study was undertaken to determine the information and support needs of carers of adults who have Down's syndrome and dementia. The data were analysed thematically. Carers' information and support needs were seen to change at pre-diagnosis, diagnosis and post-diagnosis. Helping carers to manage the changing nature of the…

  3. ADULT RESPIRATORY-DISTRESS SYNDROME (ARDS) DUE TO BACTEREMIC PNEUMOCOCCAL PNEUMONIA

    NARCIS (Netherlands)

    MANNES, GPM; BOERSMA, WG; BAUR, CHJM; POSTMUS, PE

    We describe a patient, who had no pre-existing disease, with bacteraemic pneumococcal pneumonia and adult respiratory distress syndrome (ARDS), a rare complication. In spite of the use of antibiotics and intensive treatment the mortality rate of this kind of infection remains high. Streptococcus

  4. Sleep Disturbances and Behavioural Problems in Adults with Prader-Willi Syndrome

    Science.gov (United States)

    Maas, A. P. H. M.; Sinnema, M.; Didden, R.; Maaskant, M. A.; Smits, M. G.; Schrander-Stumpel, C. T. R. M.; Curfs, L. M. G.

    2010-01-01

    Background: Individuals with Prader-Willi syndrome (PWS) are at risk of sleep disturbances, such as excessive daytime sleepiness (EDS) and sleep apnoea, and behavioural problems. Sleep disturbances and their relationship with other variables had not been researched extensively in adults with PWS. Method: Sleep disturbances and behavioural problems…

  5. Gastric invagination in adults as a rare cause of constitutional syndrome.

    Science.gov (United States)

    Dávila Arias, Cristina; Milena Muñoz, Ana; Valero González, María Ángeles; Céspedes Mas, Mariano

    2017-02-01

    This article describes and illustrates the case of an adult patient with clinical symptoms of constitutional syndrome, postprandial discomfort and a mass in the left lateral abdominal region caused by a gastric intussusception with a fundal adenoma as the head of the invagination. The intussusception was diagnosed by MRI (magnetic resonance imaging).

  6. Verb Comprehension and Use in Children and Adults with Down Syndrome

    Science.gov (United States)

    Michael, Sarah E.; Ratner, Nan Bernstein; Newman, Rochelle

    2012-01-01

    Purpose: Expressive syntax is a particular area of difficulty for individuals with Down syndrome (DS). In order to better understand the basis for sentence formulation deficits often observed in children and adults with DS, the authors explored the use and comprehension of verbs differing in argument structure. Method: The authors examined verb…

  7. Ehlers–Danlos Syndrome in an Adult Woman: A Hidden Syndrome

    Directory of Open Access Journals (Sweden)

    Diana Spinelli

    2014-05-01

    Full Text Available Ehlers–Danlos syndrome is a rare disease and a diagnostic challenge. This case report serves to remind the clinician that it is important to identify all affected patients in order to prevent complications.

  8. A comparison of elderly and adult multiple organ dysfunction syndrome in the rat model.

    Science.gov (United States)

    Zhu, Qinglei; Qian, Xiaoshun; Wang, Shiwen; Yin, Tong; Yang, Jie; Xue, Qiao; Xu, Bin

    2006-08-01

    Multiple organ dysfunction syndrome (MODS) in the elderly is the most common cause of mortality in critically ill elderly patients, and it is different from MODS in the adult in clinic. Rare studies have been done on its pathogenesis and the comparison between adult and elderly MODS animal models. This work aimed at exploring the mechanisms mediating elderly MODS and compared this with adult MODS. Male Sprague-Dawley aged and adult rats were intraperitoneally injected with zymosan for incitement of MODS. Aged rats receiving zymosan showed severer pulmonary, cardiac and renal dysfunctions than adult rats. Likewise, the tissue lesions under light microscope in major organs of zymosan treated aged rats were much worse than those of zymosan treated adult rats. Moreover, zymosan treated aged rats showed 142% and 64% greater increase in pulmonary alveolar macrophages (AMs) apoptotic rate and serum TNF-alpha level, respectively, whereas 43% smaller increase in serum IL-10 level compared to zymosan treated adult rats. Furthermore, lung injury was much worse than that in other organs in zymosan treated aged rats. Overall, these results suggest that zymosan can be used in aged rats to incite MODS in the elderly. In the animal model of elderly MODS, there are (1) severer injury in lung, heart and kidney vs adult; (2) easier to develop severe systemic inflammatory response syndrome (SIRS) instead of compensatory anti-inflammatory response syndrome (CARS) compared to the adult; and (3) severer inflammation in lung than other organs indicative of the possible roles of lung in triggering MODS in the elderly.

  9. Electrical Storm or Naxos Syndrome in an Adult Causing Recurrent Syncope.

    Science.gov (United States)

    Maqbool, Muhammad Furrakh; Sajid, Muhammad; Noeman, Ahmed

    2017-04-01

    Among the rare and well-known causes of sudden cardiac death by malignant arrthymias is a condition called arrhythmogenic right ventricular cardiomyopathy. It commonly presents with right ventricular dilatation, dysfunction and ventricular tachycardia of left bundle branch morphology due to fibro-fatty infiltration of right ventricle in second to fifth decade of life, making it an unrecognized and important cause of sudden cardiac death. Two rare variants of arrhythmogenic right ventricular cardiomyopathy are Carvajal syndrome and Naxos syndrome. Both variants have systemic manifestations. Being a rare variant of arrhythmogenic right ventricular dysplasia, Naxos syndrome was initially described in the families of the Greek island of Naxos. It is a recessive disorder with cardio-cutaneous manifestations characterized by arrhythmogenic right ventricular cardiomyopathy, palmoplantar keratoderma and wooly hair. We report a rare case of Naxos syndrome in an adult patient presented with recurrent episodes of palpitation and syncope.

  10. Role of Imaging in the Diagnosis and Management of Complete Androgen Insensitivity Syndrome in Adults

    Directory of Open Access Journals (Sweden)

    Marco Nezzo

    2013-01-01

    Full Text Available Complete androgen insensitivity syndrome is an X-linked recessive androgen receptor disorder characterized by a female phenotype with an XY karyotype. Individuals affected by this syndrome have normal female external genitalia but agenesis of the Müllerian duct derivatives, that is, absence of the Fallopian tubes, uterus, cervix, and the proximal part of the vagina, with presence of endoabdominal, labial, or inguinal testes. The estimated prevalence is between 1 and 5 in 100,000 genetic males. Complete androgen insensitivity syndrome can be diagnosed as a result of mismatch between the prenatal sex prediction and the phenotype at birth, can be detected by chance, or remain undetected until investigations for primary amenorrhea. Imaging can be important both to diagnose the pathology and to localize gonads prior to surgical treatment. In this paper, we present three cases of complete androgen insensitivity syndrome in adult women of 34, 22, and 38 years old.

  11. Shoulder function, pain and health related quality of life in adults with joint hypermobility syndrome/Ehlers-Danlos syndrome-hypermobility type

    DEFF Research Database (Denmark)

    Johannessen, Elise Christine; Reiten, Helle Sundnes; Løvaas, Helene

    2016-01-01

    Purpose To investigate shoulder function, pain and Health-Related Quality of life (HRQoL) among adults with joint hypermobility syndrome/Ehlers-Danlos syndrome-hypermobility type (JHS/EDS-HT), compared with the general population (controls). Method In a cross-sectional study using postal survey...

  12. Tic Exacerbation in Adults with Tourette Syndrome: A Case Series

    OpenAIRE

    Sara M. Schaefer; Christopher A. Chow; Elan D. Louis; Daphne Robakis

    2017-01-01

    Background: Tourette syndrome (TS) has been described as peaking in adolescence with subsequent regression. We report patients who were diagnosed with TS during childhood who experienced a latent period (significant reduction in or absence of tics) followed by tic re-emergence in adulthood.Methods: We performed a retrospective chart review of outpatients over age 21 seen at the Yale neurology clinic between January 2012 and July 2016 who were diagnosed with childhood-onset tics, and...

  13. [Aspirin and its danger: Reye syndrome in young adult].

    Science.gov (United States)

    Selves, A; Ruiz, S; Crognier, L; Conil, J-M; Bonneville, F; Georges, B; Dupuy, M; Fourcade, O; Geeraerts, T

    2013-11-01

    We describe the case of a 19-year-old male diagnosed with Reye syndrome within the context of viral pericarditis and salicylate ingestion. He presented a fatal brain oedema without liver failure. Brain biopsies obtained during a decompressive craniectomy led to the diagnosis. Copyright © 2013 Société française d’anesthésie et de réanimation (Sfar). Published by Elsevier SAS. All rights reserved.

  14. Syndrome thoracique aigu chez le drépanocytaire adulte ...

    African Journals Online (AJOL)

    Contexte Le syndrome thoracique aigu (STA) est une cause majeure de morbimortalité en cas de drépanocytose, pathologie peu documentée en Afrique sub-saharienne. Notre but était de décrire les manifestations cliniques évocatrices du STA au cours des complications aiguës de la drépanocytose en milieu ...

  15. Intermittent Brugada Syndrome Presenting with Syncope in an Adult Female

    Directory of Open Access Journals (Sweden)

    Patricia Chavez

    2014-01-01

    Full Text Available Background. Brugada syndrome accounts for 4–12% of all sudden deaths worldwide and at least 20% of sudden deaths in patients with structurally normal hearts. Case Report. A 48-year-old female presented to the emergency department after two witnessed syncopal episodes. While awaiting discharge had a third collapse followed by cardiac arrest with shockable rhythm. Initial electrocardiogram showed wide QRS complex with left axis deviation, ST-segment elevation of 2 mm followed by a negative T wave with no isoelectric separation, suggestive of spontaneous intermittent Brugada type 1 pattern. Cardiac magnetic resonance imaging demonstrated neither structural heart disease nor abnormal myocardium. After placement of an implantable cardioverter defibrillator the patient was discharged. Why should an emergency physician be aware of this? Brugada syndrome is an infrequently encountered clinical entity which may have a fatal outcome. This syndrome primarily presents with syncope. It should be considered as a component of differential diagnosis in patients with family history of syncope and sudden cardiac death.

  16. Communication in deafblind adults with Usher syndrome: retrospective observational study.

    Science.gov (United States)

    Figueiredo, Marília Zannon de Andrade; Chiari, Brasilia Maria; Goulart, Bárbara Niegia Garcia de

    2013-01-01

    To characterize the communication and the main mechanisms that facilitate interpersonal relationships of deafblind, especially in relation to communication and locomotion and the impact of these aspects on deafblindness. Report of a series of cases conducted from semi-structured interviews with questions relating to the functionality of communication, with Usher syndrome patients attended in a specialized clinic in a university service, in the year 2007. The sample consisted of 11 deafblind subjects, with Usher syndrome, aged between 20 and 57 years (mean age 43 years and SD=12.27), of which 7 (63.6%) were female. The responses were analyzed by qualitative-quantitative technique of the Discurso do Sujeito Coletivo (DSC). All participants reported that visual and auditory symptoms began in childhood. Of the 11 interviewed, 6 reported that the disease has negatively affected their daily activities, 6 experienced difficulty at work, and 2 at leisure. Four reported that there was a change in family relationships, and 5 reported no change in the interaction with family and friends. In discourse analysis, almost 30% of respondents reported to use alternative forms of communication, 40% said move alone if the way is known before. Only 1 of 11 participants said they did not ask for help when needed. Individuals diagnosed with Usher syndrome face challenging situations in daily activities, personal relationships, at work and at play. Alternative forms of communication are often used when verbal communication is not possible. The majority of respondents have independence of locomotion, or seeking ways to achieve it.

  17. Practical guidelines for managing adults with 22q11.2 deletion syndrome.

    Science.gov (United States)

    Fung, Wai Lun Alan; Butcher, Nancy J; Costain, Gregory; Andrade, Danielle M; Boot, Erik; Chow, Eva W C; Chung, Brian; Cytrynbaum, Cheryl; Faghfoury, Hanna; Fishman, Leona; García-Miñaúr, Sixto; George, Susan; Lang, Anthony E; Repetto, Gabriela; Shugar, Andrea; Silversides, Candice; Swillen, Ann; van Amelsvoort, Therese; McDonald-McGinn, Donna M; Bassett, Anne S

    2015-08-01

    22q11.2 Deletion syndrome (22q11.2DS) is the most common microdeletion syndrome in humans, estimated to affect up to 1 in 2,000 live births. Major features of this multisystem condition include congenital anomalies, developmental delay, and an array of early- and later-onset medical and psychiatric disorders. Advances in pediatric care ensure a growing population of adults with 22q11.2DS. Informed by an international panel of multidisciplinary experts and a comprehensive review of the existing literature concerning adults, we present the first set of guidelines focused on managing the neuropsychiatric, endocrine, cardiovascular, reproductive, psychosocial, genetic counseling, and other issues that are the focus of attention in adults with 22q11.2DS. We propose practical strategies for the recognition, evaluation, surveillance, and management of the associated morbidities.Genet Med 17 8, 599-609.

  18. Practical guidelines for managing adults with 22q11.2 deletion syndrome

    Science.gov (United States)

    Fung, Wai Lun Alan; Butcher, Nancy J.; Costain, Gregory; Andrade, Danielle M.; Boot, Erik; Chow, Eva W.C.; Chung, Brian; Cytrynbaum, Cheryl; Faghfoury, Hanna; Fishman, Leona; García-Miñaúr, Sixto; George, Susan; Lang, Anthony E.; Repetto, Gabriela; Shugar, Andrea; Silversides, Candice; Swillen, Ann; van Amelsvoort, Therese; McDonald-McGinn, Donna M.; Bassett, Anne S.

    2015-01-01

    22q11.2 Deletion syndrome (22q11.2DS) is the most common microdeletion syndrome in humans, estimated to affect up to 1 in 2,000 live births. Major features of this multisystem condition include congenital anomalies, developmental delay, and an array of early- and later-onset medical and psychiatric disorders. Advances in pediatric care ensure a growing population of adults with 22q11.2DS. Informed by an international panel of multidisciplinary experts and a comprehensive review of the existing literature concerning adults, we present the first set of guidelines focused on managing the neuropsychiatric, endocrine, cardiovascular, reproductive, psychosocial, genetic counseling, and other issues that are the focus of attention in adults with 22q11.2DS. We propose practical strategies for the recognition, evaluation, surveillance, and management of the associated morbidities. PMID:25569435

  19. Hypophosphatemic Rickets: Presenting Features of Fanconi—Bickel Syndrome

    Directory of Open Access Journals (Sweden)

    Mahua Roy

    2011-01-01

    Full Text Available Fanconi-Bickel Syndrome (FBS is a rare variety of glycogen storage disease (GSD. Characterized by massive hepatomegaly due to glycogen accumulation, severe hypophosphatemic rickets, and marked growth retardation due to proximal renal tubular dysfunction. We report a young boy presented as hypophosphatemic rickets with hepatomegaly and subsequently diagnosed as FBS.

  20. A Dutch Fanconi Anemia FANCC Founder Mutation in Canadian Manitoba Mennonites

    NARCIS (Netherlands)

    de Vries, Yne; Lwiwski, Nikki; Levitus, Marieke; Kuyt, Bertus; Israels, Sara J.; Arwert, Fré; Zwaan, Michel; Greenberg, Cheryl R.; Alter, Blanche P.; Joenje, Hans; Meijers-Heijboer, Hanne

    2012-01-01

    Fanconi anemia (FA) is a recessive DNA instability disorder associated with developmental abnormalities, bone marrow failure, and a predisposition to cancer. Based on their sensitivity to DNA cross-linking agents, FA cells have been assigned to 15 complementation groups, and the associated genes

  1. Analysis of the Novel Fanconi Anemia Gene SLX4/FANCP in Familial Breast Cancer Cases

    NARCIS (Netherlands)

    Bakker, Janine L.; van Mil, Saskia E.; Crossan, Gerry; Sabbaghian, Nelly; de Leeneer, Kim; Poppe, Bruce; Adank, Muriel; Gille, Hans; Verheul, Henk; Meijers-Heijboer, Hanne; de Winter, Johan P.; Claes, Kathleen; Tischkowitz, Marc; Waisfisz, Quinten

    2013-01-01

    SLX4/FANCP is a recently discovered novel disease gene for Fanconi anemia (FA), a rare recessive disorder characterized by chromosomal instability and increased cancer susceptibility. Three of the 15 FA genes are breast cancer susceptibility genes in heterozygous mutation carriers-BRCA2, PALB2, and

  2. De Novo Chromosome Copy Number Variation in Fanconi Anemia-Associated Hematopoietic Defects

    Science.gov (United States)

    2014-08-01

    the endogenous and exogenous agents that promote de novo CNV formation, remain largely unknown. We hypothesize that the FA-BRCA pathway, through its...Adam, Z., Rani, R., Zhang, X. and Pang, Q. (2008) Oxidative stress in Fanconi anemia hematopoiesis and disease progression. Antioxid Redox Signal, 10

  3. Structural Chromosomal Alterations Induced by Dietary Bioflavonoids in Fanconi Anemia Lymphocytes

    Directory of Open Access Journals (Sweden)

    Gonzalo Guevara

    2007-06-01

    Full Text Available IntroductionFanconi anemia is an autosomal recessive diseasecharacterized by a variety of congenital abnormalities,progressive bone marrow failure,increased chromosomal instability and higherrisk to acute myeloid leukemia, solid tumors. Thisentity can be considered an appropriate biologicalmodel to analyze natural substances with possiblegenotoxic effect. The aims of this study wereto describe and quantify structural chromosomalaberrations induced by 5 flavones, 2 isoflavonesand a topoisomerase II chemotherapeutic inhibitorin Fanconi anemia lymphocytes in order todetermine chromosomal numbers changes and/or type of chromosomal damage.Materials and methodsChromosomes stimulated by phytohaemagglutininM, from Fanconi anemia lymphocytes,were analysed by conventional cytogenetic culture.For each chemical substance and controls,one hundred metaphases were evaluated. Chromosomalalterations were documented by photographyand imaging analyzer. To statisticalanalysis was used chi square test to identify significantdifferences between frequencies of chromosomaldamage of basal and exposed cellcultured a P value less than 0.05.ResultsThere were 431 chromosomal alterations in1000 metaphases analysed; genistein was themore genotoxic bioflavonoid, followed in descendentorder by genistin, fisetin, kaempferol,quercetin, baicalein and miricetin. Chromosomalaberrations observed were: chromatidbreaks, chromosomal breaks, cromatid andchromosomal gaps, quadriratials exchanges,dicentrics chromosome and complex rearrangements.ConclusionBioflavonoids as genistein, genistin and fisetin,which are commonly present in the human diet,showed statistical significance in the number ofchromosomal aberrations in Fanconi anemialymphocytes, regarding the basal damage.

  4. High-throughput screening identifies novel agents eliciting hypersensitivity in Fanconi pathway-deficient cancer cells

    Czech Academy of Sciences Publication Activity Database

    Gallmeier, E.; Hucl, T.; Brody, J.R.; Dezentje, D.A.; Tahir, K.; Kašpárková, Jana; Brabec, Viktor; Bachman, K.E.; Kern, S.E.

    2007-01-01

    Roč. 67, č. 5 (2007), s. 2169-2177 ISSN 0008-5472 R&D Projects: GA ČR(CZ) GA305/05/2030; GA MZd(CZ) NR8562 Institutional research plan: CEZ:AV0Z50040702 Keywords : cancer * Fanconi anemia pathway * p53 Subject RIV: BO - Biophysics Impact factor: 7.672, year: 2007

  5. Ubiquitin-SUMO Circuitry Controls Activated Fanconi Anemia ID Complex Dosage in Response to DNA Damage

    DEFF Research Database (Denmark)

    Gibbs-Seymour, Ian; Oka, Yasuyoshi; Rajendra, Eeson

    2015-01-01

    We show that central components of the Fanconi anemia (FA) DNA repair pathway, the tumor suppressor proteins FANCI and FANCD2 (the ID complex), are SUMOylated in response to replication fork stalling. The ID complex is SUMOylated in a manner that depends on the ATR kinase, the FA ubiquitin ligase...

  6. Ubiquitin-like protein UBL5 promotes the functional integrity of the Fanconi anemia pathway

    DEFF Research Database (Denmark)

    Oka, Yasuyoshi; Bekker-Jensen, Simon; Mailand, Niels

    2015-01-01

    in promoting the function of the Fanconi anemia (FA) pathway for repair of DNA interstrand crosslinks (ICLs), mediated by a specific interaction with the central FA pathway component FANCI. UBL5-deficient cells display spliceosome-independent reduction of FANCI protein stability, defective FANCI function...

  7. A modified Mediterranean diet score is inversely associated with metabolic syndrome in Korean adults.

    Science.gov (United States)

    Kim, Youngyo; Je, Youjin

    2018-03-21

    Findings from studies in Western countries showed that Mediterranean diet is inversely associated with metabolic syndrome, but little is known about this association in Asian countries. To evaluate the association between Mediterranean diet and metabolic syndrome in Korean population, this study was conducted. A total of 8387 adults 19-64 years of age from the Korea National Health and Nutrition Examination Survey 2012-2015 were assessed. A 112-item dish-based semiquantitative food frequency questionnaire was used to assess dietary intakes. Mediterranean diet was assessed by a modified Mediterranean diet score, which was based on the alternate Mediterranean diet score of Fung et al. Multivariable logistic regression models were used to calculate odds ratios (ORs) with 95% confidence intervals (CIs) adjusted for other dietary and lifestyle variables. Participants with 5-6 and 7 or higher modified Mediterranean diet scores had a lower prevalence of metabolic syndrome by 27% (OR = 0.73, 95% CI: 0.56-0.96) and 36% (OR = 0.64, 95% CI: 0.46-0.89; P-trend = 0.0031), compared with those with 2 or lower modified Mediterranean diet scores, respectively. Higher modified Mediterranean diet scores were associated with a lower prevalence of abdominal obesity and hypertriglyceridemia, which are components of metabolic syndrome CONCLUSIONS: Our findings suggest that diet rich in fruit, vegetables, whole grains, legumes, peanuts and fish is associated with a lower prevalence of metabolic syndrome in Korean adults.

  8. Association between physical activity and metabolic syndrome among Malay adults in a developing country, Malaysia.

    Science.gov (United States)

    Chu, Anne H Y; Moy, F M

    2014-03-01

    Metabolic syndrome is a highly prevalent health problem within the adult population in developing countries. We aimed to study the association of physical activity levels and metabolic risk factors among Malay adults in Malaysia. Cross-sectional. Body mass index, waist circumference, and systolic/diastolic blood pressure, fasting blood glucose, fasting triglyceride and high-density lipoprotein cholesterol levels were measured in 686 Malay participants (aged 35-74 years). Self-reported physical activity was obtained with the validated International Physical Activity Questionnaire (Malay version) and categorized into low, moderate or high activity levels. Individuals who were classified as overweight and obese predominated (65.6%). On the basis of the modified NCEP ATP III criteria, metabolic syndrome was diagnosed in 31.9% of all participants, of whom 46.1% were men and 53.9% were women. The prevalence of metabolic syndrome among participants with low, moderate or high activity levels was 13.3%, 11.7% and 7.0%, respectively (pactivity categories (pactivity categories were 0.42 (95% CI: 0.27-0.65) and 0.52 (95% CI: 0.35-0.76), respectively, adjusted for gender. Moderate and high activity levels were each associated with reduced odds for metabolic syndrome independent of gender. Although a slightly lower prevalence of metabolic syndrome was associated with high activity than with moderate activity, potential health benefits were observed when moderate activity was performed. Copyright © 2013 Sports Medicine Australia. All rights reserved.

  9. Sedentary behavior, physical activity, and the metabolic syndrome among U.S. adults.

    Science.gov (United States)

    Ford, Earl S; Kohl, Harold W; Mokdad, Ali H; Ajani, Umed A

    2005-03-01

    We examined the associations among physical activity, sedentary behavior, and metabolic syndrome in a representative sample of U.S. adults. A total of 1626 men and women > or =20 years old from National Health and Nutrition Examination Survey 1999 to 2000 who attended the morning examination were evaluated. The metabolic syndrome was defined by using the definition from the National Cholesterol Education Program. In unadjusted analysis, participants who did not engage in any moderate or vigorous physical activity during leisure time had almost twice the odds of having metabolic syndrome [odds ratio (OR), 1.90; 95% confidence interval (CI), 1.22 to 2.97] as those who reportedly engaged in > or =150 min/wk of such activity. Adjustment for age, sex, race or ethnicity, educational status, smoking status, and alcohol use attenuated the OR (OR, 1.46; 95% CI, 0.87 to 2.45). Compared with participants who watched television or videos or used a computer or =4 h/d. Additional adjustment for physical activity or sedentary behavior minimally affected the ORs. Sedentary behavior is an important potential determinant of the prevalence of the syndrome. Efforts to lessen the amount of time that U.S. adults spend watching television or videos or using a computer, especially if coupled to increases in physical activity, could result in substantial decreases in the prevalence of metabolic syndrome.

  10. Acute myocardial infarction in young adults with Antiphospholipid syndrome: report of two cases and literature review

    Directory of Open Access Journals (Sweden)

    Leila Abid

    2011-02-01

    Full Text Available Acute myocardial infarction (AMI is rarely associated with antiphospholipid syndrome. The treatment of these patients is a clinical challenge. We report the observations of 2 young adults (1 woman and 1 man, admitted in our acute care unit for acute myocardial infarction (AMI. A coagulopathy work-up concludes the existence of antiphospholipid syndrome (APS in the 2 cases. APS syndrome was considered primary in 2 cases. All patients presented an intense inflammatory syndrome (high level of CRP. Anticardiolipine was present in the 2 cases. However, anti B2 glycoprotein I antibodies were detected in only one case. Emergency percutaneous transluminal coronary angioplasty (PTCA with direct stenting had been performed successfully only in the first case, and the follow-up was uncomplicated. Thereafter, long-term oral anticoagulant appeared to be effective. The last patient was admitted because of peripheral acute ischemia of legs. Standard electrocardiogram showed signs of previous silent anteroseptal wall myocardial infarction confirmed by echocardiography. The latter revealed an apical thrombus and a very low left ventricular ejection fraction. Amputation of the right leg was necessary because of consultation occurred too late. However, he died four weeks later. Primary antiphospholipid syndrome should be considered as a cause of acute myocardial infarction in young adults, and PTCA with anticoagulant treatment is effective for initial treatment of this complication

  11. Health conditions and their impact among adolescents and young adults with Down syndrome.

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    Terri J Pikora

    Full Text Available OBJECTIVE: To examine the prevalence of medical conditions and use of health services among young adults with Down syndrome and describe the impact of these conditions upon their lives. METHODS: Using questionnaire data collected in 2011 from parents of young adults with Down syndrome we investigated the medical conditions experienced by their children in the previous 12 months. Univariate, linear and logistic regression analyses were performed. RESULTS: We found that in addition to the conditions commonly experienced by children with Down syndrome, including eye and vision problems (affecting 73%, ear and hearing problems (affecting 45%, cardiac (affecting 25% and respiratory problems (affecting 36%, conditions also found to be prevalent within our young adult cohort included musculoskeletal conditions (affecting 61%, body weight (affecting 57%, skin (affecting 56% and mental health (affecting 32% conditions and among young women menstrual conditions (affecting 58%. Few parents reported that these conditions had no impact, with common impacts related to restrictions in opportunities to participate in employment and community leisure activities for the young people, as well as safety concerns. CONCLUSION: There is the need to monitor, screen and provide appropriate strategies such as through the promotion of healthy lifestyles to prevent the development of comorbidities in young people with Down syndrome and, where present, to reduce their impact.

  12. Pulmonary Arterial Stent Implantation in an Adult with Williams Syndrome

    International Nuclear Information System (INIS)

    Reesink, Herre J.; Henneman, Onno D. F.; Delden, Otto M. van; Biervliet, Jules D.; Kloek, Jaap J.; Reekers, Jim A.; Bresser, Paul

    2007-01-01

    We report a 38-year-old patient who presented with pulmonary hypertension and right ventricular dysfunction due to pulmonary artery stenoses as a manifestation of Williams syndrome, mimicking chronic thromboembolic pulmonary hypertension. The patient was treated with balloon angioplasty and stent implantation. Short-term follow-up showed a good clinical result with excellent patency of the stents but early restenosis of the segments in which only balloon angioplasty was performed. These stenoses were subsequently also treated successfully by stent implantation. Stent patency was observed 3 years after the first procedure

  13. Treatment of adult short bowel syndrome patients with teduglutide

    DEFF Research Database (Denmark)

    Nørholk, Lærke Marijke; Holst, Jens Juul; Jeppesen, Palle Bekker

    2012-01-01

    INTRODUCTION: Parenteral support is lifesaving in short bowel syndrome patients with intestinal failure (SBS-IF), who are unable to compensate for their malabsorption by metabolic or pharmacologic adaptation. Mutually, the symptoms of SBS-IF and the inconveniences and complications in relation...... to parenteral support may cause impairment of the quality of life of SBS-IF patients. Conventional treatments include dietary manipulations, oral rehydration solutions, antidiarrheal and antisecretory treatments. However, the evidence base for these interventions is limited, and treatments improving structural...

  14. Beyond childhood: psychiatric comorbidities and social background of adults with Asperger syndrome.

    Science.gov (United States)

    Roy, Mandy; Prox-Vagedes, Vanessa; Ohlmeier, Martin D; Dillo, Wolfgang

    2015-03-01

    Over the past few years, our knowledge about Asperger syndrome (AS) has increased enormously. Although it used to be a syndrome mainly encountered in childhood and adolescent psychiatry, it is now increasingly recognized in adult psychiatry. Nevertheless, little is known about psychiatric comorbidities and life course of adults with AS. The current study aimed to gain an insight into comorbidities and the development of the social situation of adults with AS. We investigated psychiatric comorbidities, psychiatric history, professional background, partnerships, and children in 50 adults with AS (34 men and 16 women) over a broad age range (20-62 years). Seventy percent of adults with AS had at least one psychiatric comorbiditiy. Most frequent comorbidities were depression and anxiety disorders. Obsessive-compulsive disorder and alcohol abuse/dependence were also observed. Many adults had previously been treated with psychopharmacological or psychotherapeutic interventions. Although most adults had a high-level school leaving certificate and had gone on to complete training/university studies, less than half were currently in employment. Fourteen adults were living in a partnership and 10 had children. Adults with AS often have psychiatric comorbidities, indicating lower levels of mental health. Additionally, they seem to have severe limitations concerning professional success, despite having a good school education. Their family situation is also impaired with regard to starting a family. These considerable limitations in the life of adults with AS may help to understand their specific problems, and emphasize the importance of developing specific treatments for improving their mental health and social integration.

  15. Estimation of the prevalence of Fanconi anemia among patients with de novo acute myelogenous leukemia who have poor recovery from chemotherapy.

    Science.gov (United States)

    Rochowski, Andrzej; Rosenberg, Philip S; Alonzo, Todd A; Gerbing, Robert B; Lange, Beverly J; Alter, Blanche P

    2012-01-01

    We speculated that some individuals with de novo acute myelogenous leukemia (AML) may have undiagnosed Fanconi Anemia (FA). Data from patients enrolled on AML protocol CCG-2961, published FA cohort studies, SEER, and Bayes rule were used to estimate the probability of FA among all newly diagnosed AML cases, and among those who had no or delayed recovery of the absolute neutrophil count following initial chemotherapy. We determined that the probability of undiagnosed FA in patients in a treatment trial for newly diagnosed patients was around 0.18%, and around 0.83% in the subset who had poor marrow recovery. We suggest that FA or other inherited bone marrow failure syndromes be considered prior to treatment, or certainly among those with poor recovery. Published by Elsevier Ltd.

  16. Association between the metabolic syndrome and chronic kidney disease in Chinese adults.

    Science.gov (United States)

    Chen, Jing; Gu, Dongfeng; Chen, Chung-Shiuan; Wu, Xigui; Hamm, L Lee; Muntner, Paul; Batuman, Vecihi; Lee, Chien-Hung; Whelton, Paul K; He, Jiang

    2007-04-01

    The metabolic syndrome is a common risk factor for cardiovascular and chronic kidney disease (CKD) in Western populations. We examined the relationship between the metabolic syndrome and risk of CKD in Chinese adults. A cross-sectional survey was conducted in a nationally representative sample of 15 160 Chinese adults aged 35-74 years. The metabolic syndrome was defined as the presence of three or more of the following risk factors: elevated blood pressure, low high density lipoprotein (HDL)-cholesterol, high triglycerides, elevated plasma glucose and abdominal obesity. CKD was defined as an estimated glomerular filtration ratecreatinine was defined as >or=1.14 mg/dl in men and >or=0.97 mg/dl in women (>or=95th percentile of serum creatinine in Chinese men and women aged 35-44 years without hypertension or diabetes, respectively). The multivariate-adjusted odds ratios [95% confidence interval (CI)] of CKD and elevated serum creatinine in participants with compared to those without the metabolic syndrome were 1.64 (1.16, 2.32) and 1.36 (1.07, 1.73), respectively. Compared to participants without any components of the metabolic syndrome, the multivariate-adjusted odds ratios (95% CI) of CKD were 1.51 (1.02, 2.23), 1.50 (0.97, 2.32), 2.13 (1.30, 3.50) and 2.72 (1.50, 4.93) for those with 1, 2, 3, and 4 or 5 components, respectively. The corresponding multivariate-adjusted odds ratios (95% CI) of elevated serum creatinine were 1.11 (0.88, 1.40), 1.39 (1.07, 2.04), 1.47 (1.06, 2.04) and 2.00 (1.32, 3.03), respectively. These findings suggest that the metabolic syndrome might be an important risk factor for CKD in Chinese adults.

  17. Association of Family Composition and Metabolic Syndrome in Korean Adults Aged over 45 Years Old.

    Science.gov (United States)

    Kim, Young-Ju

    2015-12-01

    This study investigated the relationship between family composition and the prevalence of metabolic syndrome by gender in Korean adults aged 45 years and older. The sample consisted of 11,291 participants in the Korea National Health and Nutrition Examination Survey from 2010 to 2012. We used complex sample analyses, including strata, cluster, and sample weighting, to allow generalization to the Korean population. Complex samples crosstabs and chi-square tests were conducted to compare the percentage of sociodemographic characteristics to the prevalence of metabolic syndrome and its components by gender and family composition. Next, a complex sample logistic regression was performed to examine the association between family composition and the prevalence of metabolic syndrome by gender. The percentage of adults living alone was 5.6% for men and 13.9% for women. Slightly more women (14.0%) than men (10.1%) reported living with three generations. The percentage of metabolic syndrome in Korean adults aged 45 years and older was 53.2% for men and 35.7% for women. For women, we found that living with one or three generations was significantly associated with a higher risk of metabolic syndrome, blood pressure, and triglyceride abnormality after adjusting for age, education, household income, smoking, physical activity, and body mass index, when compared to living alone. No significant relationships were found for men. A national strategy, tailored on gender and family composition, needs to be developed in order to prevent the increase of metabolic syndrome in Korean women over middle age. Copyright © 2015. Published by Elsevier B.V.

  18. Predictors of Handwriting in Adolescents and Adults with Down Syndrome

    Science.gov (United States)

    Moy, Eloïse; Tardif, Carole; Tsao, Raphaele

    2017-01-01

    Handwriting is a skill that is constantly used in schools and in the workplace--two environments that are targeted in French legislation passed in 2005 on the integration of people with disabilities. The aim of the present study was to determine the predictive factors for handwriting speed and quality in adolescents and adults with Down syndrome…

  19. Clinical care of adult Turner syndrome--new aspects

    DEFF Research Database (Denmark)

    Trolle, Christian; Mortensen, Kristian Havmand; Hjerrild, Britta E

    2012-01-01

    is frequent and can be a forerunner of cardiovascular disease. The description of adult life with TS has been broadened and medical, social and psychological aspects are being added at a compelling pace. Proper care during adulthood should be studied and a framework for care should be in place, since most...

  20. Anemia aplásica adquirida e anemia de Fanconi - Diretrizes Brasileiras em Transplante de Células-Tronco Hematopoéticas Acquired aplastic anemia and Fanconi anemia - Brazilian Guidelines in Hematopoietic Stem Cell Transplantation

    Directory of Open Access Journals (Sweden)

    Larissa A. Medeiros

    2010-05-01

    clinical characteristics of each patient, including the number of transfusions, in order to minimize the primary and secondary rejection, ensuring better overall and disease-free survival observed in literature and already validated by the results in our population. In the Fanconi Anemia, transplantation is the only curative option for the aplastic bone marrow component, although insignificant for the other components of the syndrome, it also requires skill and agility in finding a donor with important results.

  1. Consumption of sugar-sweetened beverages in relation to the metabolic syndrome among Iranian adults.

    Science.gov (United States)

    Khosravi-Boroujeni, Hossein; Sarrafzadegan, Nizal; Mohammadifard, Noushin; Alikhasi, Hasan; Sajjadi, Firouzeh; Asgari, Sedigheh; Esmaillzadeh, Ahmad

    2012-01-01

    Few data are available linking intake of sugar-sweetened beverages (SSBs) with the metabolic syndrome. Furthermore, findings from these studies are inconsistent and most are from Western societies; no information is available in this regard from Middle Eastern populations. This study was conducted to assess the relationship between SSB consumption and metabolic syndrome in an Iranian adult population. In this cross-sectional study, data from 1,752 people (782 men and 970 women) that were selected with the multistage cluster random sampling method from three counties of Isfahan, Najafabad and Arak were used. A validated food frequency questionnaire was used to assess participants' usual dietary intakes. Consumption of SSBs was calculated by summing up the consumption of 'soft drinks' and 'artificially sweetened fruit juices'. To categorize participants, we used three levels of SSB consumption: 3 times/week. Biochemical assessments were done after an overnight fasting. Metabolic syndrome was defined according to the guidelines of Adult Treatment Panel III. Subjects with high consumption of SSBs (>3 times/week) were younger than those with low consumption (intakes of energy and almost all food groups. We found a significant difference in serum triglyceride levels between men consuming SSBs 1-3 times/week and those consuming intake and prevalence of the metabolic syndrome in either gender. After adjustment for potential confounders including BMI, we found that men in the top category of SSB intake were 17% more likely to have the metabolic syndrome (odds ratio (OR) 1.17; 95% confidence interval (95% CI) 0.56-2.46), while women in the highest category were 20% less likely to have the syndrome (OR 0.80; 95% CI 0.46-1.42) as compared with those in the bottom category. However, these associations were not significant in either men or women. Our results do not support the previous findings on the association between SSB consumption and metabolic syndrome. Prospective

  2. Prevalence of Metabolic Syndrome in an Adult Urban Population of the West of Iran

    Directory of Open Access Journals (Sweden)

    F. Sharifi

    2009-01-01

    Full Text Available Objectives. We determine the prevalence of the metabolic syndrome in an urban population of Zanjan, a province located to the west of Tehran. Methods. Randomly selected adults >20 years were studied using stratified sampling. Target study sample was 2941 (1396 males and 1545 females. Metabolic syndrome was diagnosed using Adult Treatment Panel-III (ATP-III guidelines when any three of the following were present: central obesity, raised triglycerides ≥150 mg/dl, low high-density lipoprotein (HDL cholesterol, blood pressure ≥130/≥85 mm Hg, and diabetes or fasting plasma glucose (FPG ≥100 mg/dl. Results. Metabolic syndrome was present in 697 (23.7% subjects (CI 95%:22%–25%, P = .001, prevalence was 23.1% in men and 24.4% in women (P : .4. The prevalence increased from 7.5% in the population younger than 30 y to 45.6% in ages more than 50 years. Low HDL was the most common metabolic abnormality in both sexes. Most of those with metabolic syndrome had three components of the syndrome (75.6%, 170 subjects (24.4% had four and none had five components simultaneously. The prevalence of obesity (BMI≥30 kg/m2, hypercholesterolemia (≥200 mg/dl and high LDL cholesterol (≥130 mg/dl was greater in the metabolic syndrome group than normal subjects (P = .00. Conclusions. There is a high prevalence of metabolic syndrome in this urban population of the northern west of Iran. Focus of cardiovascular prevention should be undertaken in this area.

  3. Practical guidelines for managing adults with 22q11.2 deletion syndrome

    OpenAIRE

    Fung, Wai Lun Alan; Butcher, Nancy J.; Costain, Gregory; Andrade, Danielle M.; Boot, Erik; Chow, Eva W.C.; Chung, Brian; Cytrynbaum, Cheryl; Faghfoury, Hanna; Fishman, Leona; García-Miñaúr, Sixto; George, Susan; Lang, Anthony E.; Repetto, Gabriela; Shugar, Andrea

    2015-01-01

    22q11.2 Deletion syndrome (22q11.2DS) is the most common microdeletion syndrome in humans, estimated to affect up to 1 in 2,000 live births. Major features of this multisystem condition include congenital anomalies, developmental delay, and an array of early- and later-onset medical and psychiatric disorders. Advances in pediatric care ensure a growing population of adults with 22q11.2DS. Informed by an international panel of multidisciplinary experts and a comprehensive review of the existin...

  4. [Somatosensory focal seizures as an onset form in adult Moyamoya syndrome].

    Science.gov (United States)

    Molina, C; Alvarez Sabín, J; Bosch, J; Codina Puiggrós, A

    1995-01-01

    Moya-Moya disease is a chronic infrequent vasculopathy. Occasionally such abnormalities are found in association with one of many conditions, in these cases the angiographic abnormality should be termed Moya-Moya syndrome rather than Moya-Moya disease. Although in children the usual manifestations are ischemic events and seizures. This clinical presentation is infrequent in adults. We present a 42-years-old man with a 1-month history of recurrent right sided partial somatosensorial seizures, later he presented a left parietal infarction, the angiographic findings were compatible with moyamoya syndrome.

  5. Basal ganglia calcification on CT in adult patients with Down's syndrome

    International Nuclear Information System (INIS)

    Ono, Yoshiro; Yoshida, Hironobu; Yoshimasu, Fumio; Higashi, Yuji.

    1987-01-01

    Fourteen adult cases with Down's syndrome were examined on cranial CT scan, and 5 of them (35.7 %) showed basal ganglia calcification (BGC). The incidence of BGC in the present cases was very high in comparison with the one in general population (0.3 ∼ 1.5 %). Abnormalities of calcium metabolism or dysfunctions of the basal ganglia were absent in each case with BGC. Calcifications were exclusively located in globus pallidus. It is considered that BGC found in the present cases may be due to the premature aging process in Down's syndrome. (author)

  6. General anaesthesia in an adult patient with Morquio syndrome with emphasis on airway issues

    Directory of Open Access Journals (Sweden)

    Lajla Kadić

    2012-05-01

    Full Text Available Patients with Morquio syndrome possess a number of characteristics which may complicate an anaesthetic procedure. The most important is that a deposition of mucopolysaccharides in the soft tissues of the oro-pharynx distorts the airway, making the airway management difficult, while the atlanto-axial instability puts these patients at risk of subluxation and quadriparesis.As the endotracheal intubation in Morquio syndrome patients may be difficult or even impossible, we recommend the technique of awake fiberoptic intubation to be considered.Our approach to awake fiberoptic intubation in an adult patient is described in this case report.

  7. Relationship of tooth brushing to metabolic syndrome in middle-aged adults.

    Science.gov (United States)

    Tanaka, Akihiko; Takeuchi, Kenji; Furuta, Michiko; Takeshita, Toru; Suma, Shino; Shinagawa, Takashi; Shimazaki, Yoshihiro; Yamashita, Yoshihisa

    2018-02-08

    To examine the effect of tooth brushing on the development of metabolic syndrome, including assessment of periodontal status, in middle-aged adults. This 5-year follow-up retrospective study was performed in 3722 participants (2897 males and 825 females) aged 35-64 years who underwent both medical check-ups and dental examinations. Metabolic components included obesity, elevated triglycerides, blood pressure, fasting glucose, and reduced high-density lipoprotein. Tooth brushing frequency was assessed using a questionnaire. Periodontal disease was defined as having at least one site with a pocket depth of ≥4 mm. Logistic regression analysis was performed to evaluate the relationship between tooth brushing frequency at the baseline examination and the development of metabolic syndrome (≥3 components). During follow-up, 11.1% of participants developed metabolic syndrome. After adjusting for potential confounders including periodontal disease, participants with more frequent daily tooth brushing tended to have significantly lower odds of developing metabolic syndrome (P for trend = 0.01). The risk of development of metabolic syndrome was significantly lower in participants brushing teeth ≥3 times/day than in those brushing teeth ≤1 time/day (odds ratio = 0.64, 95% confidence interval: 0.45-0.92). Frequent daily tooth brushing was associated with lower risk of development of metabolic syndrome. This article is protected by copyright. All rights reserved. This article is protected by copyright. All rights reserved.

  8. Genetic predisposition to myelodysplastic syndrome and acute myeloid leukemia in children and young adults

    Science.gov (United States)

    Babushok, Daria V.; Bessler, Monica; Olson, Timothy S.

    2016-01-01

    Myelodysplastic syndrome (MDS) is a clonal blood disorder characterized by ineffective hematopoiesis, cytopenias, dysplasia and an increased risk of acute myeloid leukemia (AML). With the growing availability of clinical genetic testing, there is an increasing appreciation that a number of genetic predisposition syndromes may underlie apparent de novo presentations of MDS/AML, particularly in children and young adults. Recent findings of clonal hematopoiesis in acquired aplastic anemia add another facet to our understanding of the mechanisms of MDS/AML predisposition. As more predisposition syndromes are recognized, it is becoming increasingly important for hematologists and oncologists to have familiarity with the common as well as emerging syndromes, and to have a systematic approach to diagnosis and screening of at risk patient populations. Here, we provide a practical algorithm for approaching a patient with a suspected MDS/AML predisposition, and provide an in-depth review of the established and emerging familial MDS/AML syndromes caused by mutations in the ANKRD26, CEBPA, DDX41, ETV6, GATA2, RUNX1, SRP72 genes. Finally, we discuss recent data on the role of somatic mutations in malignant transformation in acquired aplastic anemia, and review the practical aspects of MDS/AML management in patients and families with predisposition syndromes. PMID:26693794

  9. Genetic predisposition to myelodysplastic syndrome and acute myeloid leukemia in children and young adults.

    Science.gov (United States)

    Babushok, Daria V; Bessler, Monica; Olson, Timothy S

    2016-01-01

    Myelodysplastic syndrome (MDS) is a clonal blood disorder characterized by ineffective hematopoiesis, cytopenias, dysplasia and an increased risk of acute myeloid leukemia (AML). With the growing availability of clinical genetic testing, there is an increasing appreciation that a number of genetic predisposition syndromes may underlie apparent de novo presentations of MDS/AML, particularly in children and young adults. Recent findings of clonal hematopoiesis in acquired aplastic anemia add another facet to our understanding of the mechanisms of MDS/AML predisposition. As more predisposition syndromes are recognized, it is becoming increasingly important for hematologists and oncologists to have familiarity with the common as well as emerging syndromes, and to have a systematic approach to diagnosis and screening of at risk patient populations. Here, we provide a practical algorithm for approaching a patient with a suspected MDS/AML predisposition, and provide an in-depth review of the established and emerging familial MDS/AML syndromes caused by mutations in the ANKRD26, CEBPA, DDX41, ETV6, GATA2, RUNX1, SRP72 genes. Finally, we discuss recent data on the role of somatic mutations in malignant transformation in acquired aplastic anemia, and review the practical aspects of MDS/AML management in patients and families with predisposition syndromes.

  10. Generalized Hyperalgesia in Children and Adults Diagnosed With Hypermobility Syndrome and Ehlers-Danlos Syndrome Hypermobility Type: A Discriminative Analysis.

    Science.gov (United States)

    Scheper, M C; Pacey, V; Rombaut, L; Adams, R D; Tofts, L; Calders, P; Nicholson, L L; Engelbert, R H H

    2017-03-01

    Lowered pressure-pain thresholds have been demonstrated in adults with Ehlers-Danlos syndrome hypermobility type (EDS-HT), but whether these findings are also present in children is unclear. Therefore, the objectives of the study were to determine whether generalized hyperalgesia is present in children with hypermobility syndrome (HMS)/EDS-HT, explore potential differences in pressure-pain thresholds between children and adults with HMS/EDS-HT, and determine the discriminative value of generalized hyperalgesia. Patients were classified in 1 of 3 groups: HMS/EDS-HT, hypermobile (Beighton score ≥4 of 9), and healthy controls. Descriptive data of age, sex, body mass index, Beighton score, skin laxity, and medication usage were collected. Generalized hyperalgesia was quantified by the average pressure-pain thresholds collected from 12 locations. Confounders collected were pain locations/intensity, fatigue, and psychological distress. Comparisons between children with HMS/EDS-HT and normative values, between children and adults with HMS/EDS-HT, and corrected confounders were analyzed with multivariate analysis of covariance. The discriminative value of generalized hyperalgesia employed to differentiate between HMS/EDS-HT, hypermobility, and controls was quantified with logistic regression. Significantly lower pressure-pain thresholds were found in children with HMS/EDS-HT compared to normative values (range -22.0% to -59.0%; P ≤ 0.05). When applying a threshold of 30.8 N/cm 2 for males and 29.0 N/cm 2 for females, the presence of generalized hyperalgesia discriminated between individuals with HMS/EDS-HT, hypermobility, and healthy controls (odds ratio 6.0). Children and adults with HMS/EDS-HT are characterized by hypermobility, chronic pain, and generalized hyperalgesia. The presence of generalized hyperalgesia may indicate involvement of the central nervous system in the development of chronic pain. © 2016, American College of Rheumatology.

  11. Use of the glycophorin A somatic mutation assay for rapid, unambiguous identification of Fanconi anemia homozygotes regardless of GPA genotype.

    Science.gov (United States)

    Evdokimova, Viktoria N; McLoughlin, Reagan K; Wenger, Sharon L; Grant, Stephen G

    2005-05-15

    A 7-year-old girl was hospitalized with pancytopenia requiring blood transfusion. She and an older brother with suspicious symptoms were referred for laboratory testing to confirm a clinical diagnosis of Fanconi anemia (FA). Blood samples from these two children and one parent were examined with the GPA somatic mutation assay. The patient's total GPA somatic mutation frequency of 1.4 x 10(-4) was determined despite the confounding effects of her recent transfusion, and was greater than 10-fold higher than that of a population of pediatric controls, consistent with the known FA phenotype. Her brother was not informative for the standard GPA assay, which requires heterozygosity for the MN blood group, but was analyzed with a modified assay that measured only allele loss mutation. His mutation frequency, 6.8 x 10(-4) was also supportive of a diagnosis of FA. Both analyses also showed evidence of ongoing mutation through terminal erythroblast differentiation, a characteristic of patients with DNA repair syndromes which further confirmed the diagnoses. These conclusions were confirmed with traditional DEB-induced chromosome breakage studies. The quantitative and qualitative aspects of the GPA assay relevant for applying this test for FA diagnosis, and perhaps for carrier detection, are discussed. (c) 2005 Wiley-Liss, Inc., A Wiley Company.

  12. Electrophysiological findings in patients with adult tethered cord syndrome.

    Science.gov (United States)

    Oz, Oguzhan; Ulas, Umit Hidir; Duz, Bulent; Yucel, Mehmet; Odabasi, Zeki

    2010-01-01

    This study was planned for detailed evaluation of electrophysiological findings in patients with adult TCS. Patients were retrospectively assessed for clinical, radiological and electrophysiological data between 1999 and 2008. Tibial somatosensorial evoked potentials, needle electromyography, nerve conduction studies and late responses (H reflex and F response) were studied in thirty (1 female, 29 males) TCS patients diagnosed by lumbar magnetic resonance imaging. Tibial somato-sensorial evoked potentials cortical response latency was abnormal in 18 (60%) patients. Needle electromyography revealed chronic neurogenic involvement in 13 (43.3%) patients. In nerve conduction studies, motor unit action potential amplitudes were reduced in 5 (16.6%) patients and H reflexes were abnormal in 13 (43.3%) patients. Different electrophysiological abnormalities may be seen in patients with adult TCS. Our results indicated that tibial SEP abnormalities are most sensitive electrophysiological finding in patients with adult TCS. Patients with TCS should undergo electrophysiological examinations whether they have subjective or objective complaints. These examinations should evaluate different systems and treatment planning should be done with the data obtained.

  13. Osteoporosis in adult with Marfan syndrome: casuality or causality?

    Directory of Open Access Journals (Sweden)

    S. D’Amore

    2011-09-01

    Full Text Available Nearly 100 years ago, Antoine Marfan first described a recurrent systemic disorder of connective tissue characterized by overgrowth of the long bones (1. It took an additional 50 years before ocular and cardiovascular manifestations were associated with this disorder, now termed Marfan syndrome (MFS. MFS is an inherited connective tissue disorder transmitted as an autosomal dominant trait. This relatively common genetic condition affects approximately 2 to 3 per 10,000 individuals, without a particular gender, racial, geographic, or ethnic predilection (2. The disorder results from mutations in the fibrillin-1 (FBN1 gene located on chromosome 15q21.1(3. Approximately 15% of cases occur in the absence of a family history, representing new mutations; infact to date, over 550 mutations have been identified in patients with MFS and related connective tissue diseases. However, about a half of MFS cases do not possess mutations in the FBN1 gene...

  14. Management of older adults with myelodysplastic syndromes (MDS).

    Science.gov (United States)

    Luskin, Marlise R; Abel, Gregory A

    2017-12-28

    The myelodysplastic syndromes (MDS) are a varied group of hematologic neoplasms that lead to bone marrow failure, and also carry a risk of progression to acute myeloid leukemia. Patients with MDS suffer significant impairments to both their quality of life and survival. Age is the dominant risk factor for the development of MDS, with a median age at diagnosis over 70years. Consequently, patients with MDS frequently have concurrent comorbidities and/or frailty which may be coincident or related to the disease itself. Disease characteristics, degree of comorbidity, and presence of frailty all impact prognosis. Treatment of MDS focuses on supportive care, with disease-modifying approaches (chemotherapy and allogeneic hematopoietic cell transplantation) reserved for fit patients with high-risk disease. Care of patients with MDS requires understanding the disease in the context of an older population, and tailoring approaches to both disease risk and patient suitability for therapy. Copyright © 2017 Elsevier Inc. All rights reserved.

  15. The association between gender difference with metabolic syndrome, metabolic syndrome score and serum vitamin D levels in Korean adults.

    Science.gov (United States)

    Yoon, Hyun; Jeong, Dae Keun; Park, Chang Eun; Oh, Hye Jong; Kim, Sung Gil

    2017-02-01

    This study assessed the association between gender difference with metabolic syndrome (MetS), metabolic syndrome score (MSS) and serum vitamin D levels in Korean adults. Analyses were restricted to 5147 adults (2162 men; 2985 women) aged 20 and older, using the 2012 Korean National Health and Nutrition Examination Survey (KNHANES) data. In the non-adjusted model, serum 25-hydroxyvitamin D [25(OH)D] levels were inversely associated with MetS (p = .001) and MSS (p = .009) in men, but positively associated with MetS (p = .002) and MSS (p < .001) in women. However, when adjusted for related variables (including age), serum 25(OH)D levels were inversely associated with MetS (p < .001) and MSS (p < .001) in men, but were not associated with MetS (p = .200) and MSS (p = .541) in women. In conclusion, increases in MetS and its components were inversely associated with the serum vitamin D concentration in men.

  16. Equine Assisted Therapy and Changes in Gait for a Young Adult Female with Down Syndrome

    Directory of Open Access Journals (Sweden)

    Katherine J. Coffey

    2015-10-01

    Full Text Available The purpose of this study was to examine the effects of equine assisted therapy on selected gait parameters in a person with Down syndrome. One female participant with Down syndrome completed two therapeutic horseback riding programs, each consisting of six riding sessions. Specific gait characteristics were analyzed with a trend analysis of the data by examining the means of the different variables. The trend analysis revealed a difference in stride length as well as hip and knee angle. These results indicate that over the course of the two therapeutic horseback riding programs, changes in gait occurred. Therefore, therapeutic horseback riding may have the potential to benefit gait characteristics and stability in young adult females with Down syndrome; however, further research is warranted.

  17. The effect of inhaled nitric oxide in acute respiratory distress syndrome in children and adults

    DEFF Research Database (Denmark)

    Karam, O; Gebistorf, F; Wetterslev, J

    2017-01-01

    on mortality in adults and children with acute respiratory distress syndrome. We included all randomised, controlled trials, irrespective of date of publication, blinding status, outcomes reported or language. Our primary outcome measure was all-cause mortality. We performed several subgroup and sensitivity......Acute respiratory distress syndrome is associated with high mortality and morbidity. Inhaled nitric oxide has been used to improve oxygenation but its role remains controversial. Our primary objective in this systematic review was to examine the effects of inhaled nitric oxide administration......% CI) 1.59 (1.17-2.16)) with inhaled nitric oxide. In conclusion, there is insufficient evidence to support inhaled nitric oxide in any category of critically ill patients with acute respiratory distress syndrome despite a transient improvement in oxygenation, since mortality is not reduced and it may...

  18. Pragmatic inferences in high-functioning adults with autism and Asperger syndrome.

    Science.gov (United States)

    Pijnacker, Judith; Hagoort, Peter; Buitelaar, Jan; Teunisse, Jan-Pieter; Geurts, Bart

    2009-04-01

    Although people with autism spectrum disorders (ASD) often have severe problems with pragmatic aspects of language, little is known about their pragmatic reasoning. We carried out a behavioral study on high-functioning adults with autistic disorder (n = 11) and Asperger syndrome (n = 17) and matched controls (n = 28) to investigate whether they are capable of deriving scalar implicatures, which are generally considered to be pragmatic inferences. Participants were presented with underinformative sentences like "Some sparrows are birds". This sentence is logically true, but pragmatically inappropriate if the scalar implicature "Not all sparrows are birds" is derived. The present findings indicate that the combined ASD group was just as likely as controls to derive scalar implicatures, yet there was a difference between participants with autistic disorder and Asperger syndrome, suggesting a potential differentiation between these disorders in pragmatic reasoning. Moreover, our results suggest that verbal intelligence is a constraint for task performance in autistic disorder but not in Asperger syndrome.

  19. Prevalence and correlates of metabolic syndrome based on a harmonious definition among adults in the US.

    Science.gov (United States)

    Ford, Earl S; Li, Chaoyang; Zhao, Guixiang

    2010-09-01

    Recently, a Joint Scientific Statement bridged differences between previous definitions of metabolic syndrome. Our objective was to estimate the prevalence of metabolic syndrome in a representative sample of US adults and to examine its correlates. We analyzed data for up to 3461 participants aged ≥ 20 years of the 2003-2006 National Health and Nutrition Examination Survey. Using waist circumference thresholds of ≥ 102 cm for men and ≥ 88 cm for women, the age-adjusted prevalence of metabolic syndrome was 34.3% among all adults, 36.1% among men, and 32.4% among women. Using racial- or ethnic-specific International Diabetes Federation criteria for waist circumference, the age-adjusted prevalence of metabolic syndrome was 38.5% for all participants, 41.9% for men, and 35.0% for women. Prevalence increased with age, peaking among those aged 60-69 years. Prevalence was lower among African American men than White or Mexican American men, and lower among White women than among African American or Mexican American women. In a multivariate regression model, significant independent associations were noted for age (positive), gender (men higher than women), race or ethnicity (African Americans and participants of another race lower than Whites), educational status (inverse), hypercholesterolemia (positive), concentrations of C-reactive protein (positive), leisure time physical activity (inverse), microalbuminuria (positive), and hyperinsulinemia (positive). Additional adjustment for body mass index weakened many of the associations, with educational status and microalbuminuria no longer significant contributors to the model. Metabolic syndrome continues to be highly prevalent among adults in the US. Published 2010. This article is a US Government work and is in the public domain in the USA.

  20. Components of the metabolic syndrome differ between young and old adults in the US population.

    Science.gov (United States)

    Sumner, Andrew D; Sardi, Gabriel L; Reed, James F

    2012-08-01

    Prevalence of the metabolic syndrome (MetS) is high in the United States and is associated with increased risk of cardiovascular disease and diabetes. The authors examined whether the prevalence of the MetS and its components differs across age groups. Data were analyzed from 4 National Health and Nutrition Examination Surveys between the years 1999 and 2006. Prevalence of MetS as defined by the Third Report of the Adult Treatment Panel criteria and prevalence of associated cardiac risk factors were determined in 41,474 participants aged 18 years and older without a history of cardiovascular disease (CVD). All estimates were weighted. Prevalence of MetS among asymptomatic adults without CVD was 20.5% and remained stable for the total population during survey periods. Prevalence of MetS increased with age: 6.6% in young adults (age 18-29 years) and 34.6% in older adults (70 and older). Components of MetS differed between young and old adults. Young adults had lower levels of high-density lipoprotein cholesterol, less glucose intolerance, and less hypertension. This study provides an estimate of MetS prevalence in asymptomatic adults in the United States during an 8-year period revealing that MetS affects a large number of Americans. Components of MetS differ between young and old adults and may have important implications in their clinical management. © 2012 Wiley Periodicals, Inc.

  1. Fanconi anemia cells with unrepaired DNA damage activate components of the checkpoint recovery process.

    Science.gov (United States)

    Rodríguez, Alfredo; Torres, Leda; Juárez, Ulises; Sosa, David; Azpeitia, Eugenio; García-de Teresa, Benilde; Cortés, Edith; Ortíz, Rocío; Salazar, Ana M; Ostrosky-Wegman, Patricia; Mendoza, Luis; Frías, Sara

    2015-09-18

    The FA/BRCA pathway repairs DNA interstrand crosslinks. Mutations in this pathway cause Fanconi anemia (FA), a chromosome instability syndrome with bone marrow failure and cancer predisposition. Upon DNA damage, normal and FA cells inhibit the cell cycle progression, until the G2/M checkpoint is turned off by the checkpoint recovery, which becomes activated when the DNA damage has been repaired. Interestingly, highly damaged FA cells seem to override the G2/M checkpoint. In this study we explored with a Boolean network model and key experiments whether checkpoint recovery activation occurs in FA cells with extensive unrepaired DNA damage. We performed synchronous/asynchronous simulations of the FA/BRCA pathway Boolean network model. FA-A and normal lymphoblastoid cell lines were used to study checkpoint and checkpoint recovery activation after DNA damage induction. The experimental approach included flow cytometry cell cycle analysis, cell division tracking, chromosome aberration analysis and gene expression analysis through qRT-PCR and western blot. Computational simulations suggested that in FA mutants checkpoint recovery activity inhibits the checkpoint components despite unrepaired DNA damage, a behavior that we did not observed in wild-type simulations. This result implies that FA cells would eventually reenter the cell cycle after a DNA damage induced G2/M checkpoint arrest, but before the damage has been fixed. We observed that FA-A cells activate the G2/M checkpoint and arrest in G2 phase, but eventually reach mitosis and divide with unrepaired DNA damage, thus resolving the initial checkpoint arrest. Based on our model result we look for ectopic activity of checkpoint recovery components. We found that checkpoint recovery components, such as PLK1, are expressed to a similar extent as normal undamaged cells do, even though FA-A cells harbor highly damaged DNA. Our results show that FA cells, despite extensive DNA damage, do not loss the capacity to express

  2. Olanzapine treatment for tics in an adult woman with severe tourette syndrome.

    Science.gov (United States)

    Hwang, Wen-Juh

    2012-12-01

    Olanzapine had been reported to be effective in the control of tics in a few adult female patients who had a short follow-up period. The author reports the successful outcome of long-term olanzapine treatment in an adult woman with severe Tourette syndrome. A 33-year-old woman who had severe motor and vocal tics (Modified Rush Videotape Rating Scale: 17/20) showed an excellent response to olanzapine 10 mg/day within 2 months. Her tic symptoms were well controlled with gradual reduction of her dose of olanzapine to 2.5 mg/day during the following 8 years. She was symptom-free without medications in the past 2 years. In addition, she had a normal menstrual cycle and became pregnant during the period of olanzapine treatment. Olanzapine may be the drug of first choice for treating severe Tourette syndrome in pubescent female adolescents and young women who wish to have children.

  3. The sleepwalking/night terrors syndrome in adults.

    Science.gov (United States)

    Crisp, A H

    1996-10-01

    A third of a million adults in the UK sleepwalk while a million suffer from night terrors. In both conditions the individual is unaware of the fullness of their surroundings and is totally focussed in their concern or activity. Doctors are only likely to become involved if the individual comes to harm or seeks help or if other people are inconvenienced or threatened. The constitutional basis of the disorder is beyond doubt, although the actual expression may be related to stressful life-events resulting from an individual's personality, relationships and circumstances. Treatment may include the provision of a secure environment, counselling, and the use of benzodiazepines and serotonin re-uptake inhibitors.

  4. Increased dairy consumption differentially improves metabolic syndrome markers in male and female adults.

    Science.gov (United States)

    Dugan, Christine E; Barona, Jacqueline; Fernandez, Maria Luz

    2014-02-01

    Effects of dairy consumption on metabolic health and adiposity are inconsistent. Most clinical trials have investigated dairy intake, frequently during caloric restriction, in overweight or obese populations but not in a metabolic syndrome population. We investigated the effect of increased dairy intake without caloric restriction on anthropometrics, plasma lipids, and glucose in typically low-dairy consumers who met the National Cholesterol Education Program Adult Treatment Panel III (NCEP ATP III) metabolic syndrome criteria. Male (n=14) and female (n=23) adults (54.1 ± 9.7 years) with metabolic syndrome were randomized to consume low-fat dairy (LFD) (10 oz of 1% milk, 6 oz of nonfat yogurt, 4 oz of 2% cheese) or carbohydrate control (CNT) (1.5-oz granola bar and 12 oz of 100% juice) foods for 6 weeks in a crossover study design. Anthropometrics, metabolic syndrome parameters, insulin resistance, and parathyroid hormone were measured. Body composition was analyzed by a dual-energy X-ray absorptiometry scan for a subset of subjects (n=22). LFD modulated metabolic syndrome parameters differently according to gender. Following LFD, men had lower glucose (95.4 ± 9.1 vs. 98.9 ± 10.6 mg/dL, P=0.048), whereas women had lower body weight (BW), waist circumference, and body mass index (P<0.01) compared to CNT. Women also had lower energy intake following LFD compared to CNT. Increases in phosphorus (a dairy nutrient) were negatively correlated with decreases in BW (r=-0.537; P<0.01) and body fat in women (r=-0.593, P<0.025), whereas the decreases in energy intake had no correlation with anthropometrics. Three dairy servings/day promoted small but significant improvements differentially by gender in a metabolic syndrome population.

  5. Integrating intention and context: assessing social cognition in adults with Asperger syndrome

    Science.gov (United States)

    Baez, Sandra; Rattazzi, Alexia; Gonzalez-Gadea, María L.; Torralva, Teresa; Vigliecca, Nora Silvana; Decety, Jean; Manes, Facundo; Ibanez, Agustin

    2012-01-01

    Deficits in social cognition are an evident clinical feature of the Asperger syndrome (AS). Although many daily life problems of adults with AS are related to social cognition impairments, few studies have conducted comprehensive research in this area. The current study examined multiple domains of social cognition in adults with AS assessing the executive functions (EF) and exploring the intra and inter-individual variability. Fifteen adult's diagnosed with AS and 15 matched healthy controls completed a battery of social cognition tasks. This battery included measures of emotion recognition, theory of mind (ToM), empathy, moral judgment, social norms knowledge, and self-monitoring behavior in social settings. We controlled for the effect of EF and explored the individual variability. The results indicated that adults with AS had a fundamental deficit in several domains of social cognition. We also found high variability in the social cognition tasks. In these tasks, AS participants obtained mostly subnormal performance. EF did not seem to play a major role in the social cognition impairments. Our results suggest that adults with AS present a pattern of social cognition deficits characterized by the decreased ability to implicitly encode and integrate contextual information in order to access to the social meaning. Nevertheless, when social information is explicitly presented or the situation can be navigated with abstract rules, performance is improved. Our findings have implications for the diagnosis and treatment of individuals with AS as well as for the neurocognitive models of this syndrome. PMID:23162450

  6. Integrating intention and context: assessing social cognition in adults with Asperger syndrome

    Directory of Open Access Journals (Sweden)

    Sandra eBaez

    2012-11-01

    Full Text Available Deficits in social cognition are an evident clinical feature of the Asperger syndrome (AS. Although many daily life problems of adults with AS are related to social cognition impairments, few studies have conducted comprehensive research in this area. The current study examined multiple domains of social cognition in adults with AS assessing the executive functions (EF and exploring the intra and inter-individual variability. Fifteen adults diagnosed with AS and 15 matched healthy controls completed a battery of social cognition tasks. This battery included measures of emotion recognition, theory of mind, empathy, moral judgment, social norms knowledge and self-monitoring behavior in social settings. We controlled for the effect of EF and explored the individual variability. The results indicated that adults with AS had a fundamental deficit in several domains of social cognition. We also found high variability in the social cognition tasks. In these tasks, AS participants obtained mostly subnormal performance. Executive functions did not seem to play a major role in the social cognition impairments. Our results suggest that adults with AS present a pattern of social cognition deficits characterized by the decreased ability to implicitly encode and integrate contextual information in order to access to the social meaning. Nevertheless, when social information is explicitly presented or the situation can be navigated with abstract rules, performance is improved. Our findings have implications for the diagnosis and treatment of individuals with AS as well as for the neurocognitive models of this syndrome.

  7. Antisocial Behavioral Syndromes and Three-Year Quality of Life Outcomes in United States Adults

    Science.gov (United States)

    Goldstein, Risë B.; Dawson, Deborah A.; Smith, Sharon M.; Grant, Bridget F.

    2013-01-01

    Objective To examine 3-year quality-of-life (QOL) outcomes among United States adults with Diagnostic and Statistical Manual of Mental Disorders – Fourth Edition (DSM-IV) antisocial personality disorder (ASPD), syndromal adult antisocial behavior without conduct disorder (CD) before age 15 (AABS, not a DSM-IV diagnosis), or no antisocial behavioral syndrome at baseline. Method Face-to-face interviews (n= 34,653). Psychiatric disorders were assessed using the Alcohol Use Disorder and Associated Disabilities Interview Schedule – DSM-IV Version. Health-related QOL was assessed using the Short-Form 12-Item Health Survey, version 2 (SF-12v2). Other outcomes included past-year Perceived Stress Scale-4 (PSS-4) scores, employment, receipt of Supplemental Security Income (SSI), welfare, and food stamps, and participation in social relationships. Results ASPD and AABS predicted poorer employment, financial dependency, social relationship, and physical health outcomes. Relationships of antisociality to SSI and food stamp receipt and physical health scales were modified by baseline age. Both antisocial syndromes predicted higher PSS-4, AABS predicted lower SF-12v2 Vitality, and ASPD predicted lower SF-12v2 Social Functioning scores in women. Conclusion Similar prediction of QOL by ASPD and AABS suggests limited utility of requiring CD before age 15 to diagnose ASPD. Findings underscore the need to improve prevention and treatment of antisocial syndromes. PMID:22375904

  8. Jarcho-Levin syndrome with diastematomyelia: Case report of an adult patient and review of literature

    International Nuclear Information System (INIS)

    Kim, Young Seon; Lee, Ji Hae; Kang, Mi Jin; Baek Kyung Eun; Kim, Jae Hyung; Jeong, Myeong Ja; Kim, Soung Hee; Kim, Ji Young; Kim, Soo Hyun; Lee, Han Bee

    2015-01-01

    Jarcho-Levin syndrome (JLS) is a rare congenital dysostosis characterized by multiple vertebral and costal anomalies. The combination of JLS and neural tube defect is rare. Only six cases of JLS accompanying diastematomyelia have been reported; all were in infants or children. We present the case of a 37-year-old female patient with JLS who also had diastematomyelia in lumbar vertebral level. This is the seventh case of JLS with diastematomyelia, and the first adult case.

  9. Association of Family Composition and Metabolic Syndrome in Korean Adults Aged over 45 Years Old

    OpenAIRE

    Young-Ju Kim, RN, ACNP, PhD

    2015-01-01

    Purpose: This study investigated the relationship between family composition and the prevalence of metabolic syndrome by gender in Korean adults aged 45 years and older. Methods: The sample consisted of 11,291 participants in the Korea National Health and Nutrition Examination Survey from 2010 to 2012. We used complex sample analyses, including strata, cluster, and sample weighting, to allow generalization to the Korean population. Complex samples crosstabs and chi-square tests were conduc...

  10. Jarcho-Levin syndrome with diastematomyelia: Case report of an adult patient and review of literature

    Energy Technology Data Exchange (ETDEWEB)

    Kim, Young Seon; Lee, Ji Hae; Kang, Mi Jin; Baek Kyung Eun; Kim, Jae Hyung; Jeong, Myeong Ja; Kim, Soung Hee; Kim, Ji Young; Kim, Soo Hyun; Lee, Han Bee [Dept. of Radiology, Sanggye Paik Hospital, Inje University College of Medicine, Seoul (Korea, Republic of)

    2015-01-15

    Jarcho-Levin syndrome (JLS) is a rare congenital dysostosis characterized by multiple vertebral and costal anomalies. The combination of JLS and neural tube defect is rare. Only six cases of JLS accompanying diastematomyelia have been reported; all were in infants or children. We present the case of a 37-year-old female patient with JLS who also had diastematomyelia in lumbar vertebral level. This is the seventh case of JLS with diastematomyelia, and the first adult case.

  11. Le syndrome de jonction pyelo-ureterale chez l'adulte au chu ...

    African Journals Online (AJOL)

    Le syndrome de jonction pyélo-urétérale est une pathologie malformative du haut appareil urinaire qui est de plus en plus diagnostiquée en anténatal et prise en charge durant les premières années de vie. Mais des formes frustres sont encore découvertes à l'âge adulte du fait de leur caractère pauci symptomatique.

  12. The Accuracy of Anthropometric Equations to Assess Body Fat in Adults with Down Syndrome

    Science.gov (United States)

    Rossato, Mateus; Dellagrana, Rodolfo André; da Costa, Rafael Martins; de Souza Bezerra, Ewertton; dos Santos, João Otacílio Libardoni; Rech, Cassiano Ricardo

    2018-01-01

    Background: The aim of this study was to verify the accuracy of anthropometric equations to estimate the body density (BD) of adults with Down syndrome (DS), and propose new regression equations. Materials and methods: Twenty-one males (30.5 ± 9.4 years) and 17 females (27.3 ± 7.7 years) with DS participated in this study. The reference method for…

  13. Metabolic Syndrome Among Adults in New York City, 2004 New York City Health and Nutrition Examination Survey

    OpenAIRE

    Jordan, Hannah T.; Tabaei, Bahman P.; Angell, Sonia Y.; Chamany, Shadi; Kerker, Bonnie; Nash, Denis

    2011-01-01

    Introduction The objective of this study was to describe the prevalence of and factors associated with metabolic syndrome among adult New York City residents. Methods The 2004 New York City Health and Nutrition Examination Survey was a population-based, cross-sectional study of noninstitutionalized New York City residents aged 20 years or older. We examined the prevalence of metabolic syndrome and its components as defined by the National Cholesterol Education Program's Adult Treatment Panel ...

  14. Dietary Pattern and Metabolic Syndrome in Thai Adults

    Directory of Open Access Journals (Sweden)

    W. Aekplakorn

    2015-01-01

    Full Text Available Objectives. To determine the dietary patterns of middle-aged Thais and their association with metabolic syndrome (MetS. Methods. The Thai National Health Examination Survey IV data of 5,872 participants aged ≥30–59 years were used. Dietary patterns were obtained by factor analysis and their associations with Mets were examined using multiple logistic regression. Results. Three major dietary patterns were identified. The first, meat pattern, was characterized by a high intake of red meat, processed meat, and fried food. The second, healthy pattern, equated to a high intake of beans, vegetables, wheat, and dairy products. The third, high carbohydrate pattern, had a high intake of glutinous rice, fermented fish, chili paste, and bamboo shoots. Respondents with a healthy pattern were more likely to be female, higher educated, and urban residents. The carbohydrate pattern was more common in the northeast and rural areas. Compared with the lowest quartile, the highest quartile of carbohydrate pattern was associated with MetS (adjusted odds ratio: 1.82; 95% CI 1.31, 2.55 in men and 1.60; 95% CI 1.24, 2.08 in women, particularly among those with a low level of leisure time physical activity (LTPA. Conclusion. The carbohydrate pattern with low level of LTPA increased the odds of MetS.

  15. Influence of prior nutritional status on the development of the metabolic syndrome in adults.

    Science.gov (United States)

    Oliveira, Renata Maria Souza; Franceschini, Sylvia do Carmo Castro; Rosado, Gilberto Paixão; Priore, Silvia Eloiza

    2009-02-01

    The increase in the prevalence of excess weight among people of increasingly younger age groups may lead to the early development of cardiovascular risks. To investigate the prevalence of the metabolic syndrome among young adults and the impact of birth conditions and nutritional status during adolescence on this disorder. One hundred individuals were evaluated at three different stages of life. By consulting the database of people enlisted in the army reserve military service, data were collected on weight, height, and waist circumference of all draftees of 1996, 1997, and 1999 in order to analyze their nutritional status during adolescence. Using the same database, information was sought at the maternity on their birth conditions and the adult individuals were identified. Anthropometric and biochemical data were obtained from these adults. The Metabolic Syndrome (MS) was classified according to ATP III NCEP. Body fat percentage was assessed with bioelectrical impedance and the statistical analysis was performed using the Sigma Stat 2.0 software. Prevalence of the MS was detected in 13% of the individuals. The birth conditions showed no relationship with the syndrome. In adolescence, those individuals diagnosed with MS had greater values for weight (11 kg; p =<0.001), WC (8 cm; p < 0.001), and BMI (2.5 kg/m(2); p= 0.002). A significant part of the risk factors for cardiovascular conditions starts during childhood and adolescence, and is likely to persist throughout life; therefore, primary prevention measures are critical in the context of cardiovascular disease.

  16. Early presentation of squamous cell carcinoma after bone marrow transplantation in a boy with Fanconi anemia Apresentação precoce de carcinoma de células escamosas em um menino de 11 anos com anemia de Fanconi submetido a transplante de medula óssea

    Directory of Open Access Journals (Sweden)

    Maria Fernanda Soares

    2004-08-01

    Full Text Available The authors report a case of an 11-year-old boy with Fanconi anemia presenting with squamous cell carcinoma of the tongue 763 days after bone marrow transplantation. Few cases have been reported in the literature, usually involving mucosal membranes in adult patients. The factors related to the development of malignancies after bone marrow transplantation are discussed and the early presentation is highlighted, once a high index of suspicion is required for the early identification of this kind of lesion in children.Os autores relatam o caso de um menino de 11 anos de idade com anemia de Fanconi que foi submetido a transplante de medula óssea. Com 763 dias de evolução, foi detectada uma lesão ulcerada na língua, compatível com carcinoma de células escamosas. Poucos casos semelhantes foram reportados na literatura, geralmente envolvendo as membranas mucosas em pacientes adultos. Os fatores relacionados ao desenvolvimento de neoplasias secundárias em transplante de medula óssea são discutidos e a idade precoce de apresentação do paciente enfatiza a necessidade de um alto índice de suspeição, mesmo em pacientes muito jovens, para que se faça o diagnóstico da lesão em fase inicial.

  17. The prevalence of metabolic syndrome according to various definitions and hypertriglyceridemic-waist in malaysian adults.

    Science.gov (United States)

    Zainuddin, Laila Ruwaida Mohd; Isa, Nurfirdaus; Muda, Wan Manan Wan; Mohamed, Hamid Jan

    2011-10-01

    Metabolic syndrome can be diagnosed according to several different criteria such as the latest International Diabetes Federation (IDF), National Cholesterol Education Program Adult Treatment Program III (NCEP ATPIII), and World Health Organization (WHO). The objectives of this study were to determine the prevalence of metabolic syndrome and the concordance between the above mentioned definition, and hypertriglyceridemic-waist criteria. This cross sectional study was done in Bachok, Malaysia and involved 298 respondents aged between 18 to 70 years. Multistage random sampling method was used to identify study locations while convenient random sampling method was applied to select individuals. Hypertriglyceridemic waist was defined from an internationally acceptable cut-off criterion. Kappa statistic (κ test) was used to determine the concordance between various definitions and hypertriglyceridemic-waist. The prevalence of metabolic syndrome based on different definitions was 32.2% (IDF), 28.5% (NCEP ATP III) and 12.4% (modified WHO). The prevalence of hypertriglyceridemic-waist was 19.7% and based on the IDF criteria a total of 97.5% participants with hypertriglyceridemic-waist had metabolic syndrome. The IDF criteria showed the highest concordance with NCEP ATPIII criteria (κ = 0.63), followed by hypertriglyceridemic-waist criteria (κ = 0.62) and WHO criteria (κ = 0.26). The prevalence of metabolic syndrome was highest using the IDF criteria compared to NCEP ATPIII, modified WHO and hypertriglyceridemic-waist. There was a good concordance of IDF criteria with NCEP ATP III and hypertriglyceridemic-waist criteria.

  18. Empathy, autistic traits, and motor resonance in adults with Turner syndrome.

    Science.gov (United States)

    Lepage, Jean-François; Lortie, Mélissa; Deal, Cheri L; Théoret, Hugo

    2014-01-01

    Turner syndrome is a genetic condition resulting from the partial or complete absence of an X-chromosome in phenotypic females. Individuals with Turner syndrome often display social difficulties that are reminiscent of those associated with autistic spectrum disorders (ASD), conditions associated with empathy and mirror-neuron system (MNS) deficits. The goal of the present study was (1) to investigate the extent to which adults with Turner syndrome display autistic and empathic traits, and (2) to probe the integrity of the MNS in this neurogenetic disorder. Sixteen individuals with Turner syndrome and 16 age-, sex-, and IQ-matched controls took part in a neuropsychological assessment where the Weschler Abbreviated Scale of Intelligence, the Autism Spectrum Quotient and the Empathy Quotient were administered. Functioning of the MNS was assessed by measuring motor cortex activity with transcranial magnetic stimulation during an action-observation task. Results show that individuals with Turner syndrome do not differ significantly from controls regarding autistic or empathic traits, and present normal functioning of the MNS during action observation. Correlational analysis showed a significant positive relationship between scores on the Empathy Quotient and motor facilitation during action observation, bringing further support to the hypothesis that MNS activity is related to sociocognitive competence.

  19. Perceived fraudulence in young adults: is there an "imposter syndrome"?

    Science.gov (United States)

    Kolligian, J; Sternberg, R J

    1991-04-01

    This investigation consists of two studies designed to examine perceived fraudulence, its measurement, and the personality traits associated with the experience in young adults. For Study 1, the Perceived Fraudulence Scale (PFS), a new measure constructed for this study, was administered to a sample of 50 college undergraduates, along with several other self-report measures; a semistructured interview and thought-listing exercise were added to provide convergent assessments of perceived fraudulence. Correlational patterns and regression analyses supported the investigators' conceptualization of perceived fraudulence as involving a combination of fraudulent ideation, depressive tendencies, self-criticism, social anxiety, achievement pressures, and self-monitoring skills. Study 2, in which 100 college undergraduates completed several personality questionnaires, replicated the factor structure of the PFS and provided some evidence for the discriminant validity of the construct of perceived fraudulence.

  20. Epidemiology of restless legs syndrome in Korean adults.

    Science.gov (United States)

    Cho, Yong Won; Shin, Won Chul; Yun, Chang Ho; Hong, Sung Bong; Kim, Ju Han; Allen, Richard P; Earley, Christopher J

    2008-02-01

    To investigate the prevalence of restless legs syndrome (RLS) in Korea. A large population-based telephone interview method using the Korean version of the Johns Hopkins telephone diagnostic interview for the RLS. A computer aided telephone interview method. A total of 5,000 subjects (2,470 men and 2,530 women) were interviewed in depth. A representative sample aged 20 to 69 years was constituted according to a stratified, multistage random sampling method. N/A. Of the respondents, 373 respondents (7.5%) of the population (pop) met the criteria for the definite or probable RLS groups: 194 (3.9% of pop) respondents fulfilled the criteria for definite RLS and 179 (3.6% of pop) respondents fulfilled the criteria for probable RLS. The prevalence of RLS was generally higher for women than men (4.4% vs. 3.3% for definite, 8.7% vs. 6.2% for definite plus probable). About 90% of RLS individuals were experiencing symptoms at the time of the interview and this was similar for both RLS groups. Seventy-four respondents (1.48%) reported symptoms were moderately or severely distressing and were therefore classified as RLS "sufferers." Of those with a diagnosis of RLS sufferer, 24.3% reported being treated for their symptoms, compared to 12.4% of RLS not designated a "sufferer." RLS is common and underdiagnosed in Korea with nearly 1% of the population reporting disturbed sleep related to their RLS. These results are comparable to other countries.

  1. Prevalence of metabolic syndrome according to Adult Treatment Panel III and International Diabetes Federation criteria: a population-based study.

    Science.gov (United States)

    Bener, Abdulbari; Zirie, Mahmoud; Musallam, Manal; Khader, Yousef S; Al-Hamaq, Abdulla O A A

    2009-06-01

    The objective of the study was to examine the prevalence of metabolic syndrome among adult Qatari population according to the revised criteria of the National Cholesterol Education Program Adult Treatment Panel III (NCEP ATP III) and the International Diabetes Federation (IDF), assess which component contributed to the increased risk of the metabolic syndrome, and identify the characteristics of the subjects with metabolic syndrome. This was a cross-sectional study. The survey was carried out in urban and semiurban primary health-care centers. The survey was conducted from January, 2007, to July, 2008, among Qatari nationals above 20 years of age. Of the 1496 subjects who were approached to participate in the study, 1204 (80.5%) gave their consent. Face-to-face interviews were conducted using a structured questionnaire followed by laboratory tests. Metabolic syndrome was defined using the NCEP ATP III as well as IDF criteria. The overall prevalence of metabolic syndrome in studied subjects was 26.5% and 33.7% according to ATP III and IDF criteria (P education and physical activity. Also, the prevalence of metabolic syndrome was more common in women. Among the components of metabolic syndrome, central obesity was significantly higher in the studied subjects. The IDF definition of metabolic syndrome gave a higher prevalence in all age groups. The overall prevalence of metabolic syndrome and its components according to IDF criteria was higher in the studied subjects than the estimates given by the ATP III. Multivariate logistics regression analysis (ATP III and IDF) showed that age and BMI were significant contributors for metabolic syndrome. Both definitions strongly supported age and obesity as associated factors for metabolic syndrome. The current study found a high prevalence of metabolic syndrome among Qataris. There was a steady increase in the prevalence of metabolic syndrome through the decades, independent of the definition. Age and BMI were important

  2. Self-Awareness in Young Adults with down Syndrome: I. Awareness of Down Syndrome and Disability

    Science.gov (United States)

    Cunningham, Cliff; Glenn, Sheila

    2004-01-01

    The limited literature on awareness of differences and stigma in people with intellectual disabilities is largely sociological, emphasises pathology, and has rarely used a developmental perspective with representative samples. Interviews, photographs and standardised tests were used to investigate such awareness with 77 young adults with Down…

  3. Drop Body Syndrome: A Distinct Form of Adult Spinal Deformity.

    Science.gov (United States)

    Yagi, Mitsuru; Kaneko, Shinjiro; Yato, Yoshiyuki; Asazuma, Takashi

    2017-08-15

    A retrospective observational study. This study examined the role of skeletal muscles in the spinal alignment of lumbar degenerative kyphosis (LDK). Adult spinal deformity (ASD) may present as LDK, which is unusual in that it typically lacks any coronal deformity. This retrospective study included 367 female patients with ASD. Demographic and radiographic data from LDKs were compared with those with other ASD. The LDK multifidus was also subjected to histological analysis. The muscle volume and strength were analyzed using whole-body dual x-ray absorptiometry and pulmonary function tests. Magnetic resonance images were used to determine the cross-sectional area (CSA) and fatty infiltration area (FIA) of the psoas and multifidus. A total of 52 patients (15%) were classified as LDK. Compared with other ASDs, those with LDK had a significantly larger sagittal vertical axis (16.3 ± 5.0 cm), and pelvic incidence minus lumbar lordosis (52.8° ± 9.2°). The LDK had significantly lower CSA and higher FIA of the multifidus, but not in the psoas (multifidus CSA 223 ± 96 vs. 477 ± 129 mm, P strength and volume of the other body sections were normal. These findings strongly suggest the presence of isolated lumbar extensor myopathy in LDK. 4.

  4. Integrative Relationship Between Retirement Syndromes Components With General Health Symptoms Among Retired Adults

    Directory of Open Access Journals (Sweden)

    Mohsen Golparvar

    2011-07-01

    Full Text Available Objectives: This research was administered with the aim of studying the relationship between retirement syndrome components with general health symptoms in retired adults in Esfahan city. Methods & Materials: This research carried out in descriptive and correlational method. Research statistical population was the retired adults in Esfahan city, among them, 461 persons for participating to research were selected using stratified random sampling, and then retirement syndrome questionnaire (helplessness and failure, older and idleness, trying and new direction and conflict and confusion and general health questionnaire (somatization, anxiety and insomnia, social dysfunction, and depression administered to them. Results: 1 Three components have predictive power for prediction of somatization, consisted of: helplessness and failure, older and idleness, trying and new directions, 2 for prediction of anxiety and insomnia, helplessness and failure, trying and new direction, older and idleness have significant predictive power, 3 For prediction of social dysfunction, helplessness and failure, and trying and new directions have significant predictive power, 4 For prediction of depression also, helplessness and failure and trying and new directions have significant predictive power. Conclusion: The finding of this research revealed that, helplessness and failure along with trying and new direction are the two components which must be considered in retired adults. Therefore, it is essential for this two dimensions established counseling centers related to retirement centers for helping retired adults.

  5. STAPHYLOCOCCAL SCALDED SKIN SYNDROME MIMICKING TOXIC EPIDERMAL NECROLYSIS IN A HEALTHY ADULT

    Directory of Open Access Journals (Sweden)

    Tomoko Oishi

    2013-07-01

    Full Text Available Introduction: Staphylococcal scaled skin syndrome (SSSS presents generalized form bullous impetigo caused by Staphylococcus aureus (S. aureus infection, typically seen in infants and children. SSSS may occur also in adults; however, the majority of adult cases are those with immunosuppression. Atypical clinical features of impetigo in adults sometimes make it difficult to diagnose correctly. Case Report: A 74-year-old healthy woman was hospitalized, complaining of extensive desquamative erythema and a number of erosions. She was administered oral antiviral drugs under suspicion of herpes zoster prior to 10 days. Initial diagnosis on the admission was toxic epidermal necrolysis (TEN due to antiviral tablets; however, steroid pulse therapy resulted in no effect. Bacterial culture yielded coagulase-positive methicillin-resistent S. aureus, producing exfoliative toxin B. A biopsy specimen showed subcorneal splitting of the epidermis. The diffuse erosions gradually improved over 10 days by the treatment with intravenous antibiotics. Conclusions: The differentiation between streptococcal scaled skin syndrome (SSSS and TEN is sometimes difficult. It is important to remind SSSS when we suspect TEN, even in healthy adults..

  6. Cognitive functioning in children and adults with Smith-Magenis syndrome.

    Science.gov (United States)

    Osório, Ana; Cruz, Raquel; Sampaio, Adriana; Garayzábal, Elena; Carracedo, Angel; Fernández-Prieto, Montse

    2012-06-01

    Smith-Magenis Syndrome (SMS) is a genetic neurodevelopmental disorder caused by a microdeletion on chromosome 17p11.2. This syndrome is characterized by a distinctive profile of physical, medical and neuropsychological characteristics. The latter include general mental disability, with the majority of individuals falling within the mild to moderate range. This study reports a detailed cognitive assessment of children and adults with SMS with the use of the Wechsler intelligence scales at three distinct levels of analysis: full scale IQ, factorial indices, and subtests. Child and adult samples were each compared to samples of age and gender-matched typically developing individuals. To our knowledge, this is the first study to systematically analyse the cognitive profile of individuals with SMS in Southern Europe. The present study confirmed mental disability, particularly within the moderate category, as a consistent feature of children and adults with SMS. Furthermore, both child and adult samples evidenced significant impairments in all four indices when compared with their typically developing counterparts. A specific pattern of strengths and weaknesses was discernible for both samples, with Verbal Comprehension emerging as a relative strength, whereas Working Memory appeared as a relative weakness. Finally, with the exception of two subtests in the perceptual domain, we found no evidence for a general cognitive decline with age. Copyright © 2012 Elsevier Masson SAS. All rights reserved.

  7. Late-Onset visceral presentation with cardiomyopathy and without neurological symptoms of adult Sanfilippo A syndrome.

    Science.gov (United States)

    Van Hove, Johan L K; Wevers, Ron A; Van Cleemput, Johan; Moerman, Philippe; Sciot, Raf; Matthijs, Gert; Schollen, Els; de Jong, Jan G N; Carey, William F; Muller, Viv; Nicholls, Cath; Perkins, Kelly; Hopwood, John J

    2003-05-01

    Sanfilippo A syndrome, mucopolysaccharidosis type IIIA, is caused by a deficiency of heparan sulphamidase activity, and usually presents in childhood with neurodegeneration leading to death in teenage years. Visceral symptoms are limited to coarsening and diarrhea. We now describe an adult patient who presented with cardiomyopathy. At age 45 years she had hypertension, and the next year she developed a progressively worsening cardiomyopathy with prominent apical hypertrophy and atrial fibrillation. At age 53, she had severe concentric hypertrophic nonobstructive cardiomyopathy in both ventricles. There was no coarsening of features. Neurologic function, skeleton, cornea, liver, and spleen were normal. Percutaneous endomyocardial biopsy showed ballooned cardiomyocytes with storage vacuoles, containing acid mucopolysaccharides. Leucocytes, uterus, and brain biopsy did not show this storage material. There was a slight increase in total urine mucopolysaccharides, with an increased proportion of heparan sulfates. Heparan sulphamidase activity was deficient in leukocytes and heparan sulphamidase protein and activity were reduced in cultured fibroblasts. No mutations were identified after sequencing of the heparan sulphamidase gene at the cDNA and the genomic level. This new clinical presentation expands the clinical spectrum of Sanfilippo A syndrome to include a primary visceral presentation of cardiomyopathy without neurologic symptoms in the adult. The late onset may be related to the residual heparan sulphamidase activity. The genetic basis of this new variant is still unclear. Physicians evaluating adults must remain aware of possible new adult presentations of storage conditions. Copyright 2003 Wiley-Liss, Inc.

  8. Fulminant limb and retroperitoneal necrotizing fasciitis in a 15-year-old girl with Fanconi anaemia.

    LENUS (Irish Health Repository)

    O'Regan, Kevin

    2012-01-31

    Necrotizing fasciitis (NF) is an uncommon soft-tissue infection in children that carries a high mortality rate. We present a 15-year-old girl with chronic pancytopenia secondary to Fanconi anaemia who developed extensive NF of the lower limb, which unfortunately resulted in a fatal outcome. Immunodeficiency is a known risk factor for the development of this condition. The findings in this case demonstrate that patients with Fanconi anaemia may be susceptible to NF and that the clinical course may be more aggressive due to underlying immunosuppression. Prompt diagnosis of NF is vital in order to initiate appropriate treatment and to optimize patient outcome. Radiological investigation demonstrated extensive soft-tissue gas and destruction affecting the entire lower limb, abdominal wall and retroperitoneum, which led to timely definitive diagnosis and management.

  9. Fulminant limb and retroperitoneal necrotizing fasciitis in a 15-year-old girl with Fanconi anaemia

    Energy Technology Data Exchange (ETDEWEB)

    O' Regan, Kevin; Maher, Michael M. [Mercy University Hospital, Department of Radiology, Cork (Ireland); Cork University Hospital, Department of Radiology, Cork (Ireland); O' Mahony, Edward; MacEneaney, Peter; Fitzgerald, Edward [Mercy University Hospital, Department of Radiology, Cork (Ireland)

    2009-10-15

    Necrotizing fasciitis (NF) is an uncommon soft-tissue infection in children that carries a high mortality rate. We present a 15-year-old girl with chronic pancytopenia secondary to Fanconi anaemia who developed extensive NF of the lower limb, which unfortunately resulted in a fatal outcome. Immunodeficiency is a known risk factor for the development of this condition. The findings in this case demonstrate that patients with Fanconi anaemia may be susceptible to NF and that the clinical course may be more aggressive due to underlying immunosuppression. Prompt diagnosis of NF is vital in order to initiate appropriate treatment and to optimize patient outcome. Radiological investigation demonstrated extensive soft-tissue gas and destruction affecting the entire lower limb, abdominal wall and retroperitoneum, which led to timely definitive diagnosis and management. (orig.)

  10. Fulminant limb and retroperitoneal necrotizing fasciitis in a 15-year-old girl with Fanconi anaemia.

    LENUS (Irish Health Repository)

    O'Regan, Kevin

    2009-10-01

    Necrotizing fasciitis (NF) is an uncommon soft-tissue infection in children that carries a high mortality rate. We present a 15-year-old girl with chronic pancytopenia secondary to Fanconi anaemia who developed extensive NF of the lower limb, which unfortunately resulted in a fatal outcome. Immunodeficiency is a known risk factor for the development of this condition. The findings in this case demonstrate that patients with Fanconi anaemia may be susceptible to NF and that the clinical course may be more aggressive due to underlying immunosuppression. Prompt diagnosis of NF is vital in order to initiate appropriate treatment and to optimize patient outcome. Radiological investigation demonstrated extensive soft-tissue gas and destruction affecting the entire lower limb, abdominal wall and retroperitoneum, which led to timely definitive diagnosis and management.

  11. Movement Disorders and Other Motor Abnormalities in Adults With 22q11.2 Deletion Syndrome

    Science.gov (United States)

    Boot, Erik; Butcher, Nancy J; van Amelsvoort, Thérèse AMJ; Lang, Anthony E; Marras, Connie; Pondal, Margarita; Andrade, Danielle M; Fung, Wai Lun Alan; Bassett, Anne S

    2015-01-01

    Movement abnormalities are frequently reported in children with 22q11.2 deletion syndrome (22q11.2DS), but knowledge in this area is scarce in the increasing adult population. We report on five individuals illustrative of movement disorders and other motor abnormalities in adults with 22q11.2DS. In addition to an increased susceptibility to neuropsychiatric disorders, seizures, and early-onset Parkinson disease, the underlying brain dysfunction associated with 22q11.2DS may give rise to an increased vulnerability to multiple movement abnormalities, including those influenced by medications. Movement abnormalities may also be secondary to treatable endocrine diseases and congenital musculoskeletal abnormalities. We propose that movement abnormalities may be common in adults with 22q11.2DS and discuss the implications and challenges important to clinical practice. PMID:25684639

  12. Anemia de Fanconi: relato de dois casos na mesma família

    Directory of Open Access Journals (Sweden)

    Patricia J. Campos Olazábal

    1983-09-01

    Full Text Available São registrados dois casos, ocorridos na mesma família, de anemia hipoplásica de Fanconi, nos quais um dos irmãos apresenta a tríade completa de anemia, malformações esqueléticas e quebras cromossômicas e, o outro, apenas as quebras cromossômicas.

  13. Verbal Fluency and Verbal Short-Term Memory in Adults with Down Syndrome and Unspecified Intellectual Disability

    Science.gov (United States)

    Stavroussi, Panayiota; Andreou, Georgia; Karagiannopoulou, Dimitra

    2016-01-01

    The purpose of this study was to examine verbal fluency and verbal short-term memory in 12 adults with Down syndrome (DS) and 12 adults with Intellectual Disability (ID) of unspecified origin, matched for receptive vocabulary and chronological age. Participants' performance was assessed on two conditions of a verbal fluency test, namely, semantic…

  14. The use of medical care and the prevalence of serious illness in an adult Prader-Willi syndrome cohort

    NARCIS (Netherlands)

    Sinnema, M.; Maaskant, M.A.; Schrojenstein Lantman-de Valk, H.M. van; Boer, H. de; Curfs, L.M.G.; Schrander-Stumpel, C.T.R.M.

    2013-01-01

    INTRODUCTION: Adults with Prader-Willi syndrome (PWS) have an increased occurrence of several medical conditions. We report on the consequences of high morbidity rates such as prevalence rate of hospital admissions, medication use and surgery in a Dutch cohort of adults with PWS. Special attention

  15. Knowledge, assessment, and management of adults with joint hypermobility syndrome/Ehlers-Danlos syndrome hypermobility type among Flemish physiotherapists.

    Science.gov (United States)

    Rombaut, Lies; Deane, Janet; Simmonds, Jane; De Wandele, Inge; De Paepe, Anne; Malfait, Fransiska; Calders, Patrick

    2015-03-01

    Physiotherapy plays a fundamental role in managing adults with the joint hypermobility syndrome/Ehlers-Danlos syndrome hypermobility type (JHS/EDS-HT). However, it is a challenge for both the patient and the physiotherapist as the condition is poorly understood and treatment for JHS/EDS-HT is currently undefined. Insight into current practice is, therefore, necessary in order to establish baseline knowledge in this area and in the long term to improve the standard of patient care. Therefore, the purpose of this study was to evaluate current physiotherapists' knowledge of JHS/EDS-HT and to gain insight into current physiotherapy practice with emphasis on assessment, management, and treatment efficacy. Three hundred twenty-five Flemish physiotherapists participated in the study by filling out electronically a modified version of the "Hypermobility and Hypermobility Syndrome Questionnaire" (HHQ), which covered theoretical constructs such as general knowledge, assessment, management, and learning in relation to generalized joint hypermobility and JHS/EDS-HT. The results show that physiotherapists report a low level of confidence with regard to assessment and management of JHS/EDS-HT. Knowledge of hypermobility and JHS/EDS-HT is weak, especially regarding the features associated with JHS/EDS-HT. Many treatment approaches are used by physiotherapists with the majority showing preference for education, reassurance, muscle strengthening, proprioceptive and core stability training. Almost all approaches were perceived as being clinically effective by the physiotherapists, highlighting a lack of consensus. In conclusion, this study in Flemish physiotherapists confirms that JHS/EDS-HT is under-recognized, not well known and deemed difficult to treat. Further education is required and sought by the physiotherapists surveyed, and future research is needed. © 2015 Wiley Periodicals, Inc.

  16. SUBCLINICAL HYPOTHYROIDISM IN METABOLIC SYNDROME AND ROLE OF CRP IN 50 ADULT PATIENTS

    Directory of Open Access Journals (Sweden)

    Pratik Shah

    2017-04-01

    Full Text Available BACKGROUND Metabolic Syndrome (MetS is generally characterised as a clustering of the abnormal levels of blood lipids (low HDL and high triglycerides, impaired fasting glucose, elevated blood pressure, and excess abdominal obesity. The objectives of the study areTo evaluate presence of Subclinical Hypothyroidism in the study population of the patients with metabolic syndrome. To find out relation between Subclinical Hypothyroidism and different parameters of metabolic syndrome. To evaluate whether patients of metabolic syndrome with raised hs-CRP have an increased risk of having hypothyroidism. MATERIALS AND METHODS A total of 50 adult patients who met with inclusion criteria were selected. Patients with metabolic syndrome (MetS who fulfilled the NCEP-ATP III criteria: 3 out of 5 criteria positive. Patients with liver disorders, renal disorders, congestive cardiac failure, pregnant women, patients on oral contraceptive pills, statins and other medications that alter thyroid functions (e.g. lithium, amiodarone or γ-interferon were excluded from the study. RESULTS A total of 50 patients of metabolic syndrome were enrolled. Out of which 36 were euthyroid, 3 were overt hypothyroid and 11 were subclinical hypothyroid. Out of 11 patients of subclinical hypothyroidism, 9 were female and 2 were male patients. Out of 28 females, 9 (32% were SCH while out of 22 males, 2 (9% were SCH. Out of 50 patients, 3 were overt hypothyroid. All 3 patients had BP >130/85, waist circumference was >88 cm and HDL of 130/85, HDL 150 mg/dL and fasting blood glucose of >100 mg/dL were more associated with male patients. CONCLUSION Subclinical Hypothyroidism was present in 22% of study population and more so in females having metabolic syndrome (32%. Hence, it will be worthwhile to screen female metabolic syndrome patients for thyroid function abnormality. Abnormal blood pressure, triglycerides and HDL cholesterol levels were more associated with subclinical hypothyroidism

  17. Differences between asthma-COPD overlap syndrome and adult-onset asthma.

    Science.gov (United States)

    Tommola, Minna; Ilmarinen, Pinja; Tuomisto, Leena E; Lehtimäki, Lauri; Haanpää, Jussi; Niemelä, Onni; Kankaanranta, Hannu

    2017-05-01

    Differences between asthma-COPD overlap syndrome (ACOS) and adult-onset asthma are poorly understood. This study aimed to evaluate these differences in a clinical cohort of patients with adult-onset asthma, as a part of the Seinäjoki Adult Asthma Study (SAAS).188 patients were diagnosed with adult-onset asthma and re-evaluated 12 years after diagnosis. They were divided into three groups based on smoking history and post bronchodilator spirometry values: 1) never- and ex-smokers with obstructive (forced expiratory volume in 1 s (FEV 1 )/forced vital capacity (FVC) ≥0.7) patients with ≥10 pack-years; and 3) ACOS patients with ≥10 pack-years and FEV 1 /FVC obstructive patients with ≥10 pack-years smoking history, respectively. ACOS patients also showed reduced lung function, higher remaining bronchial reversibility and a higher number of comorbidities.This study shows distinct differences in diffusing capacity, blood neutrophil and IL-6 levels, bronchial reversibility, lung function and comorbidities between ACOS and adult-onset asthma. The present findings should be considered in the comprehensive assessment of adult asthma patients. Copyright ©ERS 2017.

  18. Genetics and outcome of atypical hemolytic uremic syndrome: a nationwide French series comparing children and adults.

    Science.gov (United States)

    Fremeaux-Bacchi, Véronique; Fakhouri, Fadi; Garnier, Arnaud; Bienaimé, Frank; Dragon-Durey, Marie-Agnès; Ngo, Stéphanie; Moulin, Bruno; Servais, Aude; Provot, François; Rostaing, Lionel; Burtey, Stéphane; Niaudet, Patrick; Deschênes, Georges; Lebranchu, Yvon; Zuber, Julien; Loirat, Chantal

    2013-04-01

    Atypical hemolytic uremic syndrome (aHUS) is a rare complement-mediated kidney disease that was first recognized in children but also affects adults. This study assessed the disease presentation and outcome in a nationwide cohort of patients with aHUS according to the age at onset and the underlying complement abnormalities. A total of 214 patients with aHUS were enrolled between 2000 and 2008 and screened for mutations in the six susceptibility factors for aHUS and for anti-factor H antibodies. Onset of aHUS occurred as frequently during adulthood (58.4%) as during childhood (41.6%). The percentages of patients who developed the disease were 23%, 40%, 70%, and 98% by age 2, 18, 40, and 60 years, respectively. Mortality was higher in children than in adults (6.7% versus 0.8% at 1 year) (P=0.02), but progression to ESRD after the first aHUS episode was more frequent in adults (46% versus 16%; Pgenetic background. Only membrane cofactor protein (MCP) and undetermined aHUS were less severe in children than adults. The frequency of relapse after 1 year was 92% in children with MCP-associated HUS and approximately 30% in all other subgroups. Mortality rate was higher in children than adults with aHUS, but renal prognosis was worse in adults than children. In children, the prognosis strongly depends on the genetic background.

  19. Fanconi anemia: correlating central nervous system malformations and genetic complementation groups.

    Science.gov (United States)

    Johnson-Tesch, Benjamin A; Gawande, Rakhee S; Zhang, Lei; MacMillan, Margaret L; Nascene, David R

    2017-06-01

    Congenital central nervous system abnormalities in children with Fanconi anemia are poorly characterized, especially with regard to specific genetic complementation groups. To characterize the impact of genetic complementation groups on central nervous system anatomy. Through chart review we identified 36 patients with Fanconi anemia with available brain MRIs at the University of Minnesota (average age, 11.3 years; range, 1-43 years; M:F=19:17), which we reviewed and compared to 19 age- and sex-matched controls (average age, 7.9 years; range, 2-18 years; M:F=9:10). Genotypic information was available for 27 patients (15 FA-A, 2 FA-C, 3 FA-G, and 7 FA-D1 [biallelic mutations in BRCA2 gene]). Of the 36 patients, 61% had at least one congenital central nervous system or skull base abnormality. These included hypoplastic clivus (n=12), hypoplastic adenohypophysis (n=11), platybasia (n=8), pontocerebellar hypoplasia (n=7), isolated pontine hypoplasia (n=4), isolated vermis hypoplasia (n=3), and ectopic neurohypophysis (n=6). Average pituitary volume was significantly less in patients with Fanconi anemia (Pcentral nervous system skull base posterior fossa abnormalities than age- and sex-matched controls. Patients with posterior fossa abnormalities, including pontocerebellar hypoplasia, are more likely to have biallelic BRCA2 mutations.

  20. Syndrome of frailty in the older adult in a rural community in Puebla, Mexico

    Directory of Open Access Journals (Sweden)

    Liliana Rivadeneyra-Espinoza

    2016-07-01

    Full Text Available Syndrome of frailty in the elderly, involves presenting adverse events, most in need of care, increased risk of progression to disability, dependency and death. The objective of the research was to determine the number of older adults presenting fragility syndrome and the most determining factor in a rural population of the State of Puebla, Mexico. A descriptive, observational, cross-sectional, prospective study was conducted. The sample was composed of 200 patients over 65 years of age, registered in the study community health center. Data was collected through the application of the geriatric scale and fragility of Cuban criteria were applied. Including older adults 52.5% were female and 47.5 male. The prevalence of fragility Syndrome was 45%, being higher in women. As associated factor found alterations in mobility and balance with a 26.5%. It is concluded that there is a high prevalence of fragile seniors in a rural community in Puebla, Mexico; alterations in mobility and balance are the main detonating factor, due to activities of daily living that predominate in Latin American rural areas.

  1. A case report of crusted scabies in an adult patient with Down syndrome.

    Science.gov (United States)

    Nagsuk, Phillips; Moore, Rachel; Lopez, Lisa

    2015-08-15

    Crusted (Norwegian) scabies is a severe manifestation of the contagious skin infection caused by Sarcoptes scabiei. Crusted scabies has been well described in patients with known immunocompromised states. Treatment may be complicated by delayed diagnosis and/or inadequate treatment. This infection may not rank highly on one's differential diagnosis in the absence of an immunocompromised state, highlighting the uniqueness of the case being presented. Several papers describe immunocompromised children with Down syndrome who are infected with crusted scabies. We present a case of infection in an adult with Down syndrome without evidence of an immunocompromised state. Our patient came to us with a 13-month history of progressively worsening symptoms, the last 4-6 weeks of that time period being most dramatic, despite various treatments. We performed tissue biopsy, culture, and laboratory evaluations, which revealed numerous mites and bacterial superinfection. Crusted scabies infection may occur in adult age individuals with Down syndrome regardless of immune status, leading us to encourage practitioners to consider this condition when presented with patients of this population. We also highlight the need for further exploration of disease prevalence in this patient population.

  2. Correlation between Intrinsic Patellofemoral Pain Syndrome in Young Adults and Lower Extremity Biomechanics

    Science.gov (United States)

    Kwon, Ohjeoung; Yun, Mijung; Lee, Wanhee

    2014-01-01

    [Purpose] The purpose of this study was to evaluate the correlation between intrinsic patellofemoral pain syndrome (PFPS) in young adults and lower extremity biomechanics. [Subjects] This experiment was carried out with sixty (24 men and 32 women), who are normal university students as subjects. [Methods] All subjects underwent 3 clinical evaluations. For distinguishing the intrinsic PFPS from controls, we used the Modified Functional Index Questionnaire (MFIQ), Clarke’s test and the Eccentric step test. Based on the results of the tests, subjects who were classified as positive for 2 more tests were allocated to the bilateral or unilateral intrinsic PFPS group (n=14), and the others were allocated to the control group (n=42). These two groups were tested for hamstring tightness, foot overpronation, and static Q-angle and dynamic Q-angle. These are the four lower extremity biomechanic, cited as risk factors of patellofemoral pain syndrome. [Results] The over pronation, static Q-angle and the dynamic Q-angle were not significantly different between the two groups. However, the hamstring tightness of the PFPS group was significantly greater than that of the controls. [Conclusion] We examined individuals for intrinsic patellofemoral pain syndrome in young adults and lower extremity biomechanics. We found a strong correlation between intrinsic PFPS and hamstring tightness. PMID:25140074

  3. The prevalence and clinical impact of obesity in adults with Marfan syndrome

    Science.gov (United States)

    Yetman, Anji T; McCrindle, Brian W

    2010-01-01

    BACKGROUND: Patients with Marfan syndrome characteristically have an asthenic body habitus and are considered to be exempt from the obesity epidemic. OBJECTIVE: To examine the prevalence and clinical impact of obesity in a cohort of adults with Marfan syndrome. METHODS: Fifty outpatients (30 female) with a mean (± SD) age of 38±13 years were studied. Demographic variables including previously identified risk factors for aortic dissection were recorded. Body mass index (BMI) was determined and patients were classified as normal (BMI less than 25 kg/m2), overweight (BMI 25 kg/m2 to 29.9 kg/m2) or obese (BMI 30 kg/m2 or greater). Other cardiovascular risk factors were examined. An adverse clinical outcome was defined as either the attainment of surgical criteria for aortic root replacement or the presence of aortic dissection. RESULTS: A family history of aortic dissection was present in 13 (26%) patients. In 23 (46%) patients, there was no known family history of Marfan syndrome. Mean BMI was 25.4±7.4 kg/m2, with 18 (36%) patients having an elevated BMI. Positive smoking status was present in 15 (30%), hypertension in 13 (26%) and hyperlipidemia in 19 (38%) patients. Adverse clinical outcome was present in 27 (54%) patients. Logistic regression analysis revealed only index case (OR 44; PMarfan syndrome and is associated with an increased risk of aortic complications. PMID:20386774

  4. Two Adult Patients with Ellis-van Creveld Syndrome Extending the Clinical Spectrum.

    Science.gov (United States)

    Rudnik-Schöneborn, S; Zerres, K; Graul-Neumann, L; Wiegand, S; Mellerowicz, H; Hehr, U

    2011-09-01

    Ellis-van Creveld (EvC) syndrome is a rare autosomal recessive malformation syndrome with the main features cardiac defects, postaxial hexadactyly, mesomelic shortening of the limbs, short ribs, dysplastic nails and teeth, oral frenula and various other abnormalities while mental function is normal. We describe 2 adult EvC patients with the cardinal skeletal features of mesomelic short stature and severe, progressive genu valgum deformity, resulting from loss of function mutations in the EVC genes. While the genu valgum was the predominating and disabling feature in patient 1, patient 2 showed acroosteolyses in the distal phalanges and a symmetrical synostosis of metacarpals in his hands. Moreover, patient 2 developed synostoses in the additional fingers in adolescence which had not been present at the age of 12 years, suggesting a further progression of skeletal disease. Joint fusion of phalanges so far has not been reported in EvC syndrome. Our data further expand the phenotypic spectrum of EvC related skeletal malformations and contribute important new information on the clinical course of EvC syndrome with increasing age.

  5. Malnutrition-Sarcopenia Syndrome: Is This the Future of Nutrition Screening and Assessment for Older Adults?

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    Maurits F. J. Vandewoude

    2012-01-01

    Full Text Available Malnutrition is common across varying patient populations, particularly older adults, and sarcopenia prevalence increases with advancing age. Both malnutrition and sarcopenia are associated with substantial adverse outcomes affecting both the patient and the healthcare system, including increased morbidity, mortality, rehospitalization rates, and healthcare costs. Healthcare practitioners may assess patients for either malnutrition or sarcopenia; however, many patients clinically present with both conditions, resulting in the syndrome, Malnutrition-Sarcopenia Syndrome, which is the clinical presentation of both malnutrition and accelerated age-associated loss of lean body mass, strength, and/or functionality. Clinicians are urged to screen, assess, and treat these conditions currently so as to adequately address the full spectrum of patients’ nutritional issues. By examining aspects of both conditions, clinicians can more fully assess their patients’ clinical and nutritional status and can tailor targeted therapies to meet their needs and improve outcomes. This proposed syndrome embodies the inherent association of malnutrition and sarcopenia, highlighting their combined impact on clinical outcomes. The objective of this review paper is to characterize Malnutrition-Sarcopenia Syndrome to advance clinical practice, by providing clinicians with the necessary background information to integrate nutritional assessment along with loss of muscle mass and functionality in their everyday clinical practice.

  6. [Peritoneal dialysis in adult patients with prune belly syndrome: an impossible challenge?].

    Science.gov (United States)

    Musone, Dario; Nicosia, Valentina; D'Alessandro, Riccardo; Treglia, Antonio; Saltarelli, Giuseppe; Montella, Maurizio; Sparagna, Alessandro; Amoroso, Francesco

    2013-01-01

    Prune belly syndrome (PBS) is a rare congenital syndrome characterized by hypoplasia of the abdominal muscles, urinary tract malformations, and cryptorchidism in males. The estimated incidence is 1 in 35,000 to 50,000 live births. Chronic renal failure and end-stage renal disease (ESRD), due both to different degrees of renal hypoplasia or dysplasia and infectious complications, develops in 20-30% of patients who survive the neonatal period. No data are available on progression time to ESRD, owing to the variability of the phenotypic features of nephropathy. Nevertheless, PBS is primarily a pathology of pediatric interest as demonstrated, for example, by the reported average age at transplantation which usually does not exceed fifteen years of age. Therefore the need for renal replacement therapy (RRT) in adult patients with PBS is unusual. It is reasonable to suppose that the abdominal muscular defects may represent a limit for peritoneal dialysis (PD) utilization in PBS adult patients in many Kidney Units where, conversely, treatment with hemodialysis would be probably the easier choice. Here we describe the case of a 44 -year- old man with PBS who, at the age of 41, required RRT and was faced with the challenge of accepting PD. After more than three years of nocturnal automated peritoneal dialysis treatment we can safely say, as the following case illustrates, that PD is a feasible option in PBS adult patients.

  7. Etiology of encephalitis syndrome among hospitalized children and adults in Takeo, Cambodia, 1999-2000.

    Science.gov (United States)

    Srey, Viseth Horm; Sadones, Helene; Ong, Sivuth; Mam, Mony; Yim, Chantham; Sor, Sokhom; Grosjean, Pierre; Reynes, Jean-Marc; Grosjean, Pierre; Reynes, Jean-Marc

    2002-02-01

    Whether or not Japanese encephalitis virus (JEV) is an important causative agent of acute encephalitis in Cambodia remains unclear. This study was carried out to determine the cause of encephalitis syndrome among children and adults admitted to Takeo Provincial Hospital from October 1999 to September 2000. Ninety-nine cases were included in the study: 52 pediatric cases (12 were fatal) and 47 adult cases (10 were fatal). A causative agent such as human herpesvirus (HHV-3 or HHV-4), Cryptococcus neoformans, or Mycobacterium tuberculosis had been identified in 8 of the 11 adults who had human immunodeficiency virus type 1 (HIV-1). An infectious agent was identified in 35 (40%) of 88 HIV-1-seronegative patients (60% of the causes remains unidentified). These comprised 11 bacterial infections, 1 fungal infection, and 23 viral infections. The viral infections were 1 fatal HHV-4 infection, 5 dengue virus infections (2 fatal), 1 coinfection with flavivirus and alphavirus, and 16 presumptive infections JEV (no virus detected), one case of which was fatal. Infection with JEV, the principal cause identified in the 99 encephalitis syndromes, concerned 16 (31%) of 52 children.

  8. Enhancing oral and written language for adolescents and young adults with Down syndrome.

    Science.gov (United States)

    Pelatti, Christina Yeager

    2015-02-01

    Oral and written language development for adolescents and young adults with Down syndrome (Ds) are particularly challenging. Yet, research supports a syndrome-specific profile highlighting strengths and particular areas of difficulty for this group of individuals. For example, adolescents and young adults with Ds tend to understand more than they produce. In terms of oral language development, the domains of semantics and pragmatics are relative strengths whereas morphosyntax is particularly difficult. Much less is known about written language development because most adolescents and young adults with Ds are at the emergent literacy or word identification (i.e., ability to recognize and name single words) stages; however, relative strengths emerge in the area of word identification. The purpose of this article is to explore the research findings on oral and written language strengths and weaknesses and intervention strategies and techniques that facilitate development in these two interrelated domains. In addition, a case study example is provided to further enhance the clinical skills of speech-language pathologists who work with this population. Thieme Medical Publishers 333 Seventh Avenue, New York, NY 10001, USA.

  9. Characteristics of Adults with Down Syndrome: prevalence of age-related conditions

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    Angelo eCarfì

    2014-12-01

    Full Text Available Introduction. In the last decades, life expectancy of persons with Down syndrome (DS has dramatically increased and it is estimated that they will be living as long as the general population within a generation. Despite being included among the progeroid syndromes, because of the presence of features typically observed in older adults, DS is still regarded as a disease of pediatric interest. Because limited knowledge is available on the clinical characteristics of adults with DS, this study aimed to assess clinical and non-clinical features of this population and to describe similarities to the geriatric population. Methods. In this study, we described 60 adults with DS evaluated at the Day Hospital of the Geriatric Department of the Policlinico A. Gemelli, Università Cattolica del Sacro Cuore in Rome. Individuals were assessed through a standardized protocol. Results. The mean age of study participants was 38 years (range, 18 to 58 years and 42 (70.0% were women. Geriatric conditions were highly prevalent: severe cognitive impairment was diagnosed in 39 (65.0% participants, behavioral symptoms were present in 25 (41.7% and functional impairment in 23 (38.3%. Six (10.0% participants lived in institutions and 11 (18.3% were diagnosed as obese. The mean number of drugs used was 2.4; use of psychotropic drugs was highly prevalent. The most common chronic diseases were thyroid problems (44, 73.3%, followed by mood disorders (19, 31.7%, osteoporosis (18, 30.0% and cardiac problems (10, 16.7%. Geriatric conditions and chronic diseases were more prevalent among participants aged ≥40 years. Conclusions. Several similarities between older adults and adults with DS were observed. Comorbidities, geriatric conditions, cognitive and functional deficits and social problems are highly prevalent in both populations, contributing to the high complexity of these patients’ assessment and treatment.

  10. Relationships between Muscle Architecture of Rectus Femoris and Functional Parameters of Knee Motion in Adults with Down Syndrome

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    Maria Stella Valle

    2016-01-01

    Full Text Available This study was designed to measure in vivo muscle architecture of the rectus femoris in adults with Down syndrome, testing possible relationships with functional parameters of the knee motion. Ten adults with Down syndrome and ten typically developed participated in the study. Pennation angle and thickness of the rectus femoris and subcutaneous layer of the thigh were measured via ultrasound imaging. Knee kinematics and electromyographic activity of the rectus femoris were recorded during free leg dropping. Muscle thickness was reduced and subcutaneous layer was thicker in persons with Down syndrome with respect to typically developed adults, but there were no differences in the pennation angle. The area of the rectus femoris EMG activity during the leg flexion was greater in Down syndrome with respect to typically developed adults. The leg movement velocity was lower in Down people than in controls, but the knee excursion was similar between the groups. Functional parameters correlated with pennation angle in the persons with Down syndrome and with muscle thickness in typically developed persons. The description of muscle architecture and the relationships between morphological and functional parameters may provide insights on the limits and the opportunities to overcome the inherent biomechanical instability in Down syndrome.

  11. Effect of oxandrolone therapy on adult height in Turner syndrome patients treated with growth hormone: a meta-analysis.

    Science.gov (United States)

    Sheanon, Nicole M; Backeljauw, Philippe F

    2015-01-01

    Turner syndrome is a chromosomal abnormality in which there is complete or partial absence of the X chromosome. Turner syndrome effects 1 in every 2000 live births. Short stature is a cardinal feature of Turner Syndrome and the standard treatment is recombinant human growth hormone. When growth hormone is started at an early age a normal adult height can be achieved. With delayed diagnosis young women with Turner Syndrome may not reach a normal height. Adjuvant therapy with oxandrolone is used but there is no consensus on the optimal timing of treatment, the duration of treatment and the long term adverse effects of treatment. The objective of this review and meta-analysis is to examine the effect of oxandrolone on adult height in growth hormone treated Turner syndrome patients. Eligible trials were identified by a literature search using the terms: Turner syndrome, oxandrolone. The search was limited to English language randomized-controlled trials after 1980. Twenty-six articles were reviewed and four were included in the meta-analysis. A random effects model was used to calculate an effect size and confidence interval. The pooled effect size of 2.0759 (95 % CI 0.0988 to 4.0529) indicates that oxandrolone has a positive effect on adult height in Turner syndrome when combined with growth hormone therapy. In conclusion, the addition of oxandrolone to growth hormone therapy for treatment of short stature in Turner syndrome improves adult height. Further studies are warranted to investigate if there is a subset of Turner syndrome patients that would benefit most from growth hormone plus oxandrolone therapy, and to determine the optimal timing and duration of such therapy.

  12. Salivary testosterone and immunoglobulin A were increased by resistance training in adults with Down syndrome

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    G. Fornieles

    2014-04-01

    Full Text Available This study was designed to assess the influence of resistance training on salivary immunoglobulin A (IgA levels and hormone profile in sedentary adults with Down syndrome (DS. A total of 40 male adults with DS were recruited for the trial through different community support groups for people with intellectual disabilities. All participants had medical approval for participation in physical activity. Twenty-four adults were randomly assigned to perform resistance training in a circuit with six stations, 3 days per week for 12 weeks. Training intensity was based on functioning in the eight-repetition maximum (8RM test for each exercise. The control group included 16 age-, gender-, and BMI-matched adults with DS. Salivary IgA, testosterone, and cortisol levels were measured by ELISA. Work task performance was assessed using the repetitive weighted-box-stacking test. Resistance training significantly increased salivary IgA concentration (P=0.0120; d=0.94 and testosterone levels (P=0.0088; d=1.57 in the exercising group. Furthermore, it also improved work task performance. No changes were seen in the controls who had not exercised. In conclusion, a short-term resistance training protocol improved mucosal immunity response as well as salivary testosterone levels in sedentary adults with DS.

  13. Calf Compartment Syndrome associated with the Use of an Intra-osseous Line in an Adult Patient: A Case Report

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    Malhotra R

    2016-11-01

    Full Text Available We present a case of a lower limb compartment syndrome associated with the use of an intra-osseous line inserted into the proximal tibia in an adult patient. An unconscious 59-year old male with multiple injuries presented to our Emergency Department after a road traffic accident. Bilateral proximal tibial intra osseous-lines were inserted due to poor venous access. After resuscitation his left leg was noted to be tense and swollen with absent pulses. Acute compartment syndrome was diagnosed both clinically and with compartment pressure measurement. Two incision fasciotomy on his left lower leg was performed. Intra osseous-lines in the proximal tibia are increasingly used in adult patients in the pre-hospital setting by paramedics and emergency physicians. Their use, along with the possible complications of these devices, such as the development of compartment syndrome or osteomyelitis leading to amputation, is well reported in the paediatric literature. To the best of our knowledge, there have not been any previous reports of complications in the adult patient. We present a case of lower leg compartment syndrome developing from the use of an intra-osseous line in the proximal tibia in an adult patient. With the increasing use of intra-osseous lines in adult patients, clinicians should be aware of the possibility of developing compartment syndrome which may lead to disability or amputation in severe cases.

  14. Subjective health complaints and illness perception amongst adults with Joint Hypermobility Syndrome/Ehlers-Danlos Syndrome-HypermobilityType - a cross-sectional study.

    Science.gov (United States)

    Hope, Lena; Juul-Kristensen, Birgit; Løvaas, Helene; Løvvik, Camilla; Maeland, Silje

    2017-10-17

    To investigate the prevalence and severity of subjective health complaints and describe illness perception in a population of Joint Hypermobility Syndrome or Ehlers-Danlos Syndrome-Hypermobile Type. This study was a postal survey with a questionnaire battery on demographic data, subjective health complaints inventory, and illness perception. A total of 110 individuals diagnosed with Joint Hypermobility Syndrome or Ehlers-Danlos Syndrome-Hypermobile Type from two specialized hospitals in Norway were offered participation. Further, 140 gender- and age-matched healthy controls from statistics Norway representing the general population were sent the questionnaire for reference. Overall response rate was 30.4% (n = 76), with 44.5% (n = 49) in Joint Hypermobility Syndrome/Ehlers-Danlos Syndrome-Hypermobile Type and 19.3% (n = 27) in controls. Subjective health complaints were significantly higher in Joint Hypermobility Syndrome/Ehlers-Danlos Syndrome-Hypermobile Type - than in the controls (32.06 vs. 11.08; p Ehlers-Danlos Syndrome-Hypermobile Type had low understanding of their illness and symptoms (understanding, mean: 3.93, SD 2.88), and reported to have moderate personal and treatment control over their illness. Adults with Joint Hypermobility Syndrome/Ehlers-Danlos Syndrome-Hypermobile Type reported higher frequency and severity of subjective health complaints than the matched controls from the general adult population in Norway. Furthermore, Joint Hypermobility Syndrome/Ehlers-Danlos Syndrome-Hypermobile Type reported low understanding of their illness and associated symptoms, and moderate belief that their illness can be kept under control through self-management or treatment. This may indicate one of the reasons why prognosis for these patients is poor. Implications for rehabilitation Awareness of the complexity of the subjective health complaints and inquiry into illness perception could contribute with valuable information about these patients

  15. Randomized Clinical Trial: Efficacy of a New Synbiotic in Adults with Metabolic Syndrome

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    Almagul Kushugulova

    2014-01-01

    Full Text Available Introduction: Metabolic syndrome is a lifestyle disease and is a frequent problem among the adult population. Human gut microbiota plays a key role in the development of metabolic syndrome. Recently, the gut microbiota has emerged as an important contributor to the development of obesity and metabolic disorders through its interactions with environmental (e.g. diet and genetic factors. The aim of this study was to research the effects of synbiotic on the gut microbiota and host metabolism. Methods: We conducted a double-blind, randomized, placebo-controlled trial. Our sample included 180 adults (ages 30-89 with symptoms of metabolic syndrome, who were allocated to either placebo or synbiotic group. The main inclusion criteria were: blood pressure of around 130/90 mmHg; raised fasting plasma glucose (FPG >100 mg/dL (5.6 mmol/L, previous diagnosis of type 2 diabetes, dyslipidemia triglycerides (TG of 1.70 mmol/L, a high-density lipoprotein cholesterol (HDL-C of 0.90 mmol/L in males and 1.0 mmol/L in females, and central obesity with a waist/hip ratio > 0.90 in males or > 0.85 in females or a body mass index > 30 kg/m2. Results: We enrolled 90 adults in the placebo group and 90 in the synbiotic group. The two groups had similar demographic and clinical characteristics. Consent was signed by all patients. All patients underwent clinical and laboratory evaluation, including complete blood tests, glucose test, glycosylated  hemoglobin, total cholesterol and triglycerides, cholesterol, LDL, HDL plasma, immunogram, and coprogram. All patients were interviewed with a questionnaire that included 200 questions related to diet, lifestyle, and health. Synbiotic were used by patients in a dose of 200 grams twice a day. The duration of applying of the synbiotic was 90 days. To study the composition of the intestinal microbiota, stool samples were collected before and after applying the synbiotic. The microbial composition will be determined by analyzing the

  16. Mycoplasma pneumoniae-Induced-Stevens Johnson Syndrome: Rare Occurrence in an Adult Patient

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    Samad Rasul

    2012-01-01

    Full Text Available Stevens-Johnson syndrome (SJS is an uncommon occurrence in Mycoplasma pneumoniae (M. pneumoniae infection (1–5% and has been mainly reported in children and young adults. We present a case of SJS in a 32-year-old male induced by M. pneumoniae infection. This patient presented with fever, cough, and massive occupation of mucus membranes with swelling, erythema, and necrosis accompanied by a generalized cutaneous rash. He clinically responded after treatment with antibiotics and IVIG. SJS is usually a drug-induced condition; however, M. pneumoniae is the commonest infectious cause and should be considered in the differential diagnosis.

  17. Adult-onset opsoclonus-myoclonus syndrome due to West Nile Virus treated with intravenous immunoglobulin.

    Science.gov (United States)

    Hébert, Julien; Armstrong, David; Daneman, Nick; Jain, Jennifer Deborah; Perry, James

    2017-02-01

    A 63-year-old female with no significant past medical history was presented with a 5-day history of progressive opsoclonus-myoclonus, headaches, and fevers. Her workup was significant only for positive West-Nile Virus serum serologies. She received a 2-day course of intravenous immunoglobulin (IvIG). At an 8-week follow up, she had a complete neurological remission. Adult-onset opsoclonus-myoclonus syndrome is a rare condition for which paraneoplastic and infectious causes have been attributed. To our knowledge, this is the first case reported of opsoclonus-myoclonus secondary to West-Nile Virus treated with intravenous immunoglobulin monotherapy.

  18. Swyer- James -MacLeod syndrome presenting as hemoptysis in an adult

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    Santosh Kumar

    2012-01-01

    Full Text Available Swyer-James/MacLeod syndrome is an uncommon disease with characteristic radiological feature of unilateral hyperlucency due to loss of pulmonary vasculature and air trapping. Typically, this disorder is diagnosed in childhood during evaluations for recurrent respiratory infections. Here, we report a case in a 30-year-old adult female who presented with dyspnoea, cough with expectoration and recurrent hemoptysis due to associated bronchiectasis. This case highlights the importance of computed tomography in the diagnostic workup of recurrent hemoptysis in pulmonary tuberculosis epidemic countries like India

  19. [Association between daily lifestyle and the risk of metabolic syndrome among young adults in Japan. An analysis of Kobe city young adult health examination data].

    Science.gov (United States)

    Soga, Youji; Shirai, Chika; Ijichi, Akihiro

    2013-02-01

    Appropriate lifestyle modifications through health guidance and other methods are known to be effective in preventing lifestyle-related diseases. Furthermore, early intervention is key. To examine the association between daily lifestyle and the risk of metabolic syndrome among young adults in Japan, we analyzed data from the Kobe City Young Adult Health Examination. We examined 4,912 adults aged 30 to 39 years to identify the association between daily lifestyle and the risk of metabolic syndrome. Daily lifestyle was assessed from 11 lifestyle-related items in the questionnaire administered during the health exam. The Standard Health Exam and Guidance Program by the Ministry of Health and Labor was used to determine the risks of abdominal obesity, hypertension, diabetes, and hypercholesterolemia. Having a risk related to metabolic syndrome was defined as having a risk of abdominal obesity combined with a risk of hypertension, diabetes, or hypercholesterolemia. We also evaluated the stages of behavioral change in those who possessed a risk of metabolic syndrome, as well as their willingness to receive health guidance. Eating quickly had a significantly greater association with-risk of metabolic syndrome, for both sexes, than eating slowly or at a normal pace. For women, smoking, skipping breakfast more than three days a week, and eating supper within two hours before going to bed for more than three days a week were associated with risk of metabolic syndrome. A multiple regression analysis showed that skipping breakfast (P adults in their thirties in Kobe, irregular eating habits seemed to be associated with risk of metabolic syndrome. Furthermore, their intention to/awareness of the need to change their behavior and their willingness to receive health guidance were rather strong. Thus, for the "Tokutei kenshin (specific national health checkup system)" to achieve its objective of preventing lifestyle-related diseases more effectively than at present, the target

  20. Growth hormone therapy of Turner's syndrome: beneficial effect on adult height.

    Science.gov (United States)

    Rosenfeld, R G; Attie, K M; Frane, J; Brasel, J A; Burstein, S; Cara, J F; Chernausek, S; Gotlin, R W; Kuntze, J; Lippe, B M; Mahoney, C P; Moore, W V; Saenger, P; Johanson, A J

    1998-02-01

    To carry out a multicenter, prospective, randomized trial of human growth hormone (GH), alone or in combination with oxandrolone (OX), in patients with Turner's syndrome (TS). In an initial phase lasting 12 to 24 months, 70 girls with TS, verified by karyotype, were randomly assigned to one of four groups: (1) observation, (2) OX, (3) GH, or (4) GH plus OX. After completion of the first phase, group 3 subjects continued to receive GH only. All other subjects were treated with GH plus OX. Subjects were followed up until attainment of adult height and/or cessation of treatment. Data from this trial were compared with growth characteristics of 25 American historical subjects with TS (matched for age, height, parental target height, and karyotype) who never received either GH or androgens. Of the 70 subjects enrolled, 60 completed the clinical trial. The 17 subjects receiving GH alone all completed the trial and reached a height of 150.4+/-5.5 cm (mean +/- SD), 8.4+/-4.5 cm taller than their mean projected adult height at enrollment (95% confidence interval [CI]: 6.3 to 10.6 cm). The 43 subjects receiving GH plus OX attained a mean height of 152.1+/-5.9 cm, 10.3+/-4.7 cm taller than their mean projected adult height (95% CI: 8.9 to 11.7 cm). The historical control subjects had a mean adult height of 144.2+/-6.0 cm, precisely matching their original projected adult height of 144.2+/-6.1 cm. GH, either alone or in combination with OX, is capable of stimulating short-term growth and augmenting adult height in girls with TS. With early diagnosis and initiation of treatment, an adult height of more than 150 cm is a reasonable goal for most girls with TS.

  1. Bridges and barriers to successful transitioning as perceived by adolescents and young adults with Asperger syndrome.

    Science.gov (United States)

    Giarelli, Ellen; Ruttenberg, Jean; Segal, Andrea

    2013-01-01

    In this thematic content analysis we examined the expectations, and perceived facilitators of (referred to as bridges) and barriers to transition to community as reported by adolescents and young adults with Asperger syndrome. Participants were adolescents/young adults, ages 18-23 years were from the East Coast of the United States. Seventy percent of adolescents hoped for employment (n = 10). Thirty percent desired to find a partner and raise a family. Perceived barriers were: self-assessed behavioral problems, self-assessed associated features, other personal factors, and institutional factors. Bridges to facilitate transition were: accommodations in the community, cognitive abilities, personal qualities/strengths, and mentor's qualities. Copyright © 2013 Elsevier Inc. All rights reserved.

  2. Cortisol reactivity and performance abilities in social situations in adults with Williams syndrome.

    Science.gov (United States)

    Lense, Miriam D; Dykens, Elisabeth M

    2013-09-01

    Williams syndrome (WS) is a neurodevelopmental disorder associated with hypersociability and anxiety. However, little is known about how these salient aspects of the phenotype are related or their underlying physiology. We examined cortisol reactivity in WS because cortisol is responsive to psychosocial stress. Compared to typically developing adults, adults with WS had a significant cortisol decrease in response to a challenging cognitive battery. In contrast, cortisol levels in WS stayed stable in response to a solo musical performance, and baseline cortisol levels were significantly associated with musical skill. Results indicate that people with WS respond differentially to different socially-loaded situations. Implications for salience and arousal in cognitive and social situations are discussed.

  3. Adult Presentation of Dyke-Davidoff-Masson Syndrome: A Case Report

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    Ujjawal Roy

    2016-01-01

    Full Text Available Dyke-Davidoff-Masson syndrome (DDMS is a rare disease which is clinically characterized by hemiparesis, seizures, facial asymmetry, and mental retardation. The classical radiological findings are cerebral hemiatrophy, calvarial thickening, and hyperpneumatization of the frontal sinuses. This disease is a rare entity, and it mainly presents in childhood. Adult presentation of DDMS is unusual and has been rarely reported in the medical literature. Key Messages: DDMS is a rare disease of childhood. However, it should be kept in mind as a diagnostic possibility in an adult who presents with a long duration of progressive hemiparesis with seizures and mental retardation. Cerebral hemiatrophy, calvarial thickening, and hyperpneumatization of the frontal sinuses are diagnostic for this illness on brain imaging.

  4. Inhaled nitric oxide for acute respiratory distress syndrome (ARDS) in children and adults

    DEFF Research Database (Denmark)

    Gebistorf, Fabienne; Karam, Oliver; Wetterslev, Jørn

    2016-01-01

    BACKGROUND: Acute hypoxaemic respiratory failure (AHRF) and mostly acute respiratory distress syndrome (ARDS) are critical conditions. AHRF results from several systemic conditions and is associated with high mortality and morbidity in individuals of all ages. Inhaled nitric oxide (INO) has been...... used to improve oxygenation, but its role remains controversial. This Cochrane review was originally published in 2003, and has been updated in 2010 and 2016. OBJECTIVES: The primary objective was to examine the effects of administration of inhaled nitric oxide on mortality in adults and children...... data and resolved disagreements by discussion. Our primary outcome measure was all-cause mortality. We performed several subgroup and sensitivity analyses to assess the effects of INO in adults and children and on various clinical and physiological outcomes. We presented pooled estimates of the effects...

  5. The pattern of amyloid accumulation in the brains of adults with Down syndrome

    Science.gov (United States)

    Annus, Tiina; Wilson, Liam R.; Hong, Young T.; Acosta–Cabronero, Julio; Fryer, Tim D.; Cardenas–Blanco, Arturo; Smith, Robert; Boros, Istvan; Coles, Jonathan P.; Aigbirhio, Franklin I.; Menon, David K.; Zaman, Shahid H.; Nestor, Peter J.; Holland, Anthony J.

    2016-01-01

    Introduction Adults with Down syndrome (DS) invariably develop Alzheimer's disease (AD) neuropathology. Understanding amyloid deposition in DS can yield crucial information about disease pathogenesis. Methods Forty-nine adults with DS aged 25–65 underwent positron emission tomography with Pittsburgh compound–B (PIB). Regional PIB binding was assessed with respect to age, clinical, and cognitive status. Results Abnormal PIB binding became evident from 39 years, first in striatum followed by rostral prefrontal-cingulo-parietal regions, then caudal frontal, rostral temporal, primary sensorimotor and occipital, and finally parahippocampal cortex, thalamus, and amygdala. PIB binding was related to age, diagnostic status, and cognitive function. Discussion PIB binding in DS, first appearing in striatum, began around age 40 and was strongly associated with dementia and cognitive decline. The absence of a substantial time lag between amyloid accumulation and cognitive decline contrasts to sporadic/familial AD and suggests this population's suitability for an amyloid primary prevention trial. PMID:26362596

  6. Childhood bladder and bowel dysfunction predicts irritable bowel syndrome phenotype in adult interstitial cystitis/bladder pain syndrome patients.

    Science.gov (United States)

    Doiron, R Christopher; Kogan, Barry A; Tolls, Victoria; Irvine-Bird, Karen; Nickel, J Curtis

    2017-08-01

    Many clinicians have suggested that a history of bladder and bowel dysfunction (BBD) in childhood predisposes to the development of interstitial cystitis/bladder pain syndrome (IC/BPS) or irritable bowel syndrome (IBS) in adulthood. We hypothesized that BBD symptoms in childhood would predict the IBS-associated phenotype in adult IC/BPS patients. Consecutive female patients (n=190) with a diagnosis of IC/BPS were administered a modified form of a clinical BBD questionnaire (BBDQ) to capture childhood BBD-like symptoms, as well as Interstitial Cystitis Symptoms Index (ICSI), Interstitial Cystitis Problem Index (ICPI), Pelvic Pain and Urgency/Frequency (PUF) questionnaires and UPOINT categorization. Patients were stratified to IBS-positive or IBS-negative according to clinical assessment of IBS-like symptoms. The 127 patients (67%) identified with IBS-like symptoms recalled significantly higher BBDQ scores than the 63 patients (33%) who were IBS-negative (2.8 vs. 2.3; p=0.05). The IBS-positive patients also reported a higher number of UPOINT domains than their non-IBS counterparts (3.8 vs. 2.9; p=0.0001), while their PUF total scores were significantly higher (13.6 vs. 12.3; p=0.04). IBS-positive patients more often recalled that in childhood they did not have a daily bowel movement (BM) (p=0.04) and had "to push for a BM" (p=0.009). In childhood, they "urinated only once or twice per day" (p=0.03) and recalled "painful urination" more than those without IBS (p=0.03). There were no significant differences between the groups in answers to the other five questions of the BBDQ. Our symptom recollection survey was able to predict the IBS phenotype of IC/BPS based on a childhood BBDQ. Further prospective studies are needed to further evaluate these novel findings.

  7. Association between dietary patterns and the risk of metabolic syndrome among Lebanese adults.

    Science.gov (United States)

    Naja, F; Nasreddine, L; Itani, L; Adra, N; Sibai, A M; Hwalla, N

    2013-02-01

    The main objective of this study was to evaluate the association between dietary patterns and the metabolic syndrome (MetS) and its metabolic abnormalities among Lebanese adults, using data from a national nutrition survey. A cross-sectional analysis involving adults aged ≥ 18 years (n = 323) with no prior history of chronic diseases was conducted. Participants completed a brief sociodemographic and 61-item food frequency questionnaire. Anthropometric measurements and fasting blood samples were also obtained. The International Diabetes Federation criteria were used to classify study participants with the metabolic syndrome. Dietary patterns were identified by factor analysis. Multivariate logistic regression analysis was used to evaluate the associations of extracted patterns with MetS and its metabolic abnormalities. Out of 323 participants, 112 (34.6%) were classified as having MetS. Three dietary patterns were identified: "Fast Food/Dessert," "Traditional Lebanese," and "High Protein." Compared with participants in the lowest quintile of the Fast Food/Dessert pattern, those in the highest quintile had significantly higher odds for MetS (OR, 3.13; 95% CI: 1.36-7.22) and hyperglycemia (OR, 3.81; 95% CI: 159-9.14). Subjects with the highest intake of the High Protein pattern had an increased risk for hypertension (OR, 2.98; 95% CI: 1.26-7.02). The Traditional Lebanese pattern showed no association with MetS or its components. The findings of this study demonstrate a positive association of the Fast Food/Dessert pattern with MetS and hyperglycemia among Lebanese adults. These results may guide the development of improved preventive nutrition interventions in this adult population.

  8. Longitudinal telomere shortening and early Alzheimer's disease progression in adults with down syndrome.

    Science.gov (United States)

    Jenkins, Edmund C; Marchi, Elaine J; Velinov, Milen T; Ye, Lingling; Krinsky-McHale, Sharon J; Zigman, Warren B; Schupf, Nicole; Silverman, Wayne P

    2017-12-01

    Telomere shortening was shown to parallel Alzheimer's disease (AD) associated dementia. By using a dual PNA Probe system we have developed a practical method for comparing telomere length in T-lymphocyte interphases from individuals with Down syndrome (DS) with and without "mild cognitive impairment" (MCI-DS) and demonstrated that telomere length can serve as a valid biomarker for the onset of MCI-DS in this high-risk population. To verify progressive cognitive decline we have now examined sequential changes in telomere length in 10 adults with DS (N = 4 Female, N = 6 Male) developing MCI-DS. Cases were selected blind to telomere length from a sample of adults with DS previously enrolled in a prospective longitudinal study at 18-month intervals with clinical and telomere assessments: (1) MCI-DS group data were collected approximately three years prior to development of MCI-DS; (2) 18 months later; (3) when MCI-DS was first observed. These telomere measures were compared to those from another 10 adults with DS matched by sex and approximate age but without indications of MCI-DS (Controls). PNA (peptide nucleic acid) probes for telomeres together with a chromosome two centromere probe were used. Findings indicated telomere shortening over time for both Cases and Controls. Group differences emerged by 18-months prior to recognition of MCI-DS onset and completely non-overlapping distributions of telomere measures were observed by the time of MCI-DS onset. This study adds to accumulating evidence of the value of telomere length, as an early biomarker of AD progression in adults with Down syndrome. © 2017 Wiley Periodicals, Inc.

  9. Carcinoma de células escamosas da hipofaringe em mulher jovem com anemia de Fanconi Squamous cell carcinoma of the hypopharynx in a young woman with Fanconi’s anemia

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    Henrique de Lins e Horta

    2006-12-01

    Full Text Available A anemia de Fanconi é um raro distúrbio autossômico recessivo caracterizado por malformações congênitas, aplasia da medula óssea e instabilidade genômica, com predisposição ao desenvolvimento de neoplasias malignas, em especial as leucemias e os tumores do trato aerodigestivo alto. Em razão de características inerentes à síndrome em questão, o tratamento de tais neoplasias é particularmente difícil. Relata-se o caso de anemia de Fanconi uma jovem de 24 anos, que desenvolveu carcinoma de células escamosas da hipofaringe, na ausência de fatores de risco como o tabagismo e o alcoolismo, e faz-se uma revisão sumária da literatura a respeito do tema.Fanconi’s anemia is a rare autosomal recessive disorder characterized by congenital malformation, bone marrow failure and genomic instability, with a predisposition to develop malignancies, especially the leukemias and upper aerodigestive tract tumors. Due to inherent characteristics to this syndrome, the treatment of such neoplasms is particularly difficult. In this paper we report the case of a 24-year-old woman with Fanconi’s anemia who developed a squamous cell carcinoma of the hypopharynx; she had none of the traditional risk factors, such as smoking and alcohol abuse. We also briefly review the literature about this topic

  10. Pituitary stalk transection syndrome: Comparison of clinico-radiological features in adults and children with review of literature

    International Nuclear Information System (INIS)

    Kulkarni, Chinmay; Moorthy, Srikanth; Pullara, Sreekumar K; Rajeshkannan, R; Unnikrishnan, Ambika G

    2012-01-01

    Hypo-pituitarism results from impaired production of one or more of anterior pituitary trophic hormones. A rare cause of hypo-pituitarism is pituitary stalk transection syndrome. The MRI features of this condition in children and its association with hormonal deficiencies have been reported earlier. Reports on adults with this disorder are scarce, with only one small case series published in the recent literature. We studied the hormonal deficiency pattern and MRI findings of 12 patients with pituitary stalk transection syndrome who presented to our department between 2004 and 2011. Six patients were children and six were adults (≥18 years). This article compares the adult clinico-radiological phenotype of pituitary transection syndrome with the pediatric group of patients with same condition

  11. Impact of metabolic syndrome traits on cardiovascular function: should the Adult Treatment Panel III definition be further stratified?

    Science.gov (United States)

    Antonini-Canterin, Francesco; Mateescu, Anca D; Vriz, Olga; La Carrubba, Salvatore; Di Bello, Vitantonio; Carerj, Scipione; Zito, Concetta; Sparacino, Lina; Uşurelu, Cătălin; Ticulescu, Răzvan; Ginghină, Carmen; Nicolosi, Gian L; Popescu, Bogdan A

    2014-10-01

    The aims of the study were to evaluate whether a further classification of metabolic syndrome according to the number of traits (based on the Adult Treatment Panel III definition) could better explain the impact on cardiovascular remodeling and function, and to assess the role of single metabolic syndrome components in this regard. We studied by echocardiography and carotid ultrasound 435 asymptomatic patients with metabolic syndrome. Patients with coronary artery disease or more than mild valvular heart disease were excluded. Carotid stiffness index (β) was measured using a high-resolution echo-tracking system. Patients with metabolic syndrome were divided into two groups: metabolic syndrome with three traits (Gr.1) and metabolic syndrome with four or five traits (Gr. 2). Patients in Gr. 2 had higher left ventricular mass index (P metabolic syndrome traits separately, in an age-corrected multivariate analysis, abdominal obesity was found to have the strongest association with cardiac structure and carotid artery atherosclerosis and stiffness. An increasing number of metabolic syndrome traits had a significantly worse impact on cardiac remodeling and function and carotid artery atherosclerosis. Abdominal obesity showed the strongest association with cardiac structure, carotid artery stiffness, and intima-media thickness. Prospective studies are needed to evaluate whether a new classification of metabolic syndrome using the number of traits could add prognostic information.

  12. Falls and other geriatric syndromes in Blantyre, Malawi: a community survey of older adults.

    Science.gov (United States)

    Allain, T J; Mwambelo, M; Mdolo, T; Mfune, P

    2014-12-01

    The prevalence of geriatric syndromes (falls, immobility, intellectual or memory impairment, and incontinence) is unknown in many resource-poor countries. With an aging population such knowledge is essential to develop national policies on the health and social needs of older people. The aim of this study was to provide a preliminary survey to explore the prevalence of falls and other geriatric syndromes and their association with known risk factors in people aged > 60 years in urban Blantyre, Malawi. This was a cross-sectional, community survey of adults aged > 60 years. Subjects were recruited at home or in the waiting areas of chronic care clinics. They were interviewed to complete a questionnaire on age-associated syndromes and comorbid problems. The Abbreviated Mental Test (AMT) and Timed Up and Go (TUG) tests were carried out. Ninety-eight subjects were studied; 41% reported falling in the past 12 months, 33% of whom (13% of all subjects) were recurrent fallers. Twenty-five percent reported urine incontinence, 66% self-reported memory difficulties, and 11% had an AMT score Blantyre, Malawi. Falling is associated with cognitive impairment and urinary incontinence. There is an urgent need for more understanding of geriatric problems in this setting to develop national policies on health and social needs of older people. It is likely that many of the contributory factors to falls would be amenable to multifactorial interventions similar to those found to be effective in developed countries.

  13. Dietary Patterns in Relation to Metabolic Syndrome among Adults in Poland: A Cross-Sectional Study

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    Edyta Suliga

    2017-12-01

    Full Text Available In several populations the associations between diet and the risk of metabolic syndrome have not been fully examined yet. The aim of the study is to identify the main dietary patterns among Polish adults and the evaluation of the relationships of these patterns with metabolic syndrome and its components. The study was conducted on a group of 7997 participants, aged between 37 and 66 years old. Dietary patterns were identified by factor analysis. Metabolic syndrome was defined according to the International Diabetes Federation. Three dietary patterns were identified and designated as: “Healthy”, “Westernized” and “Traditional-carbohydrate”. In the adjusted model, a higher score in the “Westernized” pattern aligns with a higher risk of abnormal glucose concentration (ptrend = 0.000, but with a lower risk of abnormal High-Density Lipoprotein Cholesterol HDL-cholesterol concentration (ptrend = 0.024. Higher scores in the “Traditional-carbohydrate” pattern were connected with the risk of abdominal obesity (ptrend = 0.001 and increased triglycerides concentration (ptrend = 0.050. Our results suggest that adherence to the “Traditional-carbohydrate” dietary pattern, characterized by higher intakes of refined grains, potatoes, sugar and sweets is associated with a higher risk of abdominal obesity and triglyceridemia. A “Westernized” dietary pattern on the other hand, is related to hyperglycemia. The study results can be used for community-based health promotion and intervention programs to prevent or better manage chronic diseases.

  14. Alexithymia, emotion perception, and social assertiveness in adult women with Noonan and Turner syndromes.

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    Roelofs, Renée L; Wingbermühle, Ellen; Freriks, Kim; Verhaak, Chris M; Kessels, Roy P C; Egger, Jos I M

    2015-04-01

    Noonan syndrome (NS) and Turner syndrome (TS) are associated with cognitive problems and difficulties in affective information processing. While both phenotypes include short stature, facial dysmorphisms, and a webbed neck, genetic etiology and neuropsychological phenotype differ significantly. The present study examines putative differences in affective information processing and social assertiveness between adult women with NS and TS. Twenty-six women with NS, 40 women with TS, and 40 female controls were matched on age and intelligence, and subsequently compared on (1) alexithymia, measured by the Bermond-Vorst Alexithymia Questionnaire, (2) emotion perception, evaluated by the Emotion Recognition Task, and (3) social assertiveness and social discomfort, assessed by the Scale for Interpersonal Behavior. Women with TS showed higher levels of alexithymia than women with NS and controls (P-values social assertiveness and the level of social discomfort. Women with NS and TS demonstrated different patterns of impairment in affective information processing, in terms of alexithymia and emotion perception. The present findings suggest neuropsychological phenotyping to be helpful for the diagnosis of specific cognitive-affective deficits in genetic syndromes, for the enhancement of genetic counseling, and for the development of personalized treatment plans. © 2015 Wiley Periodicals, Inc.

  15. Binge eating disorder and night eating syndrome in adults with type 2 diabetes.

    Science.gov (United States)

    Allison, Kelly C; Crow, Scott J; Reeves, Rebecca R; West, Delia Smith; Foreyt, John P; Dilillo, Vicki G; Wadden, Thomas A; Jeffery, Robert W; Van Dorsten, Brent; Stunkard, Albert J

    2007-05-01

    To determine the prevalence of binge eating disorder (BED) and night eating syndrome (NES) among applicants to the Look AHEAD (Action for Health in Diabetes) study. The Eating Disorders Examination-Questionnaire (EDE-Q) and the Night Eating Questionnaire (NEQ) were used to screen patients. Phone interviews were conducted using the EDE for those who reported at least eight episodes of objective binge eating in the past month and using the Night Eating Syndrome History and Interview for those who scored > or =25 on the NEQ. Recruitment at four sites (Birmingham, n = 200; Houston, n = 259; Minneapolis, n = 182; and Philadelphia, n = 204) yielded 845 participants (58% women; mean age = 60.1 +/- 6.7 years; mean BMI = 36.2 +/- 6.3 kg/m(2)). Screening scores were met by 47 (5.6%) applicants on the EDE-Q and 71 (8.4%) on the NEQ. Of the 85% (40/47) who completed the EDE interview, 12 were diagnosed with BED, representing 1.4% of the total sample. Of the 72% (51/71) who completed the Night Eating Syndrome History and Interview, 32 were diagnosed with NES, equal to 3.8% of the total sample. Three participants had both BED and NES. Participants with eating disorders were younger, heavier, and reported more eating pathology than those without eating disorders. Among obese adults with type 2 diabetes, NES was reported more frequently than BED, which, in turn, was less common than expected.

  16. Metabolic Syndrome in Apparently “Healthy” Ghanaian Adults: A Systematic Review and Meta-Analysis

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    Richard Ofori-Asenso

    2017-01-01

    Full Text Available Background. Metabolic syndrome (MetS is a major public health problem in Sub-Saharan Africa. We systematically reviewed the literature towards estimating the prevalence of MetS among apparently “healthy” Ghanaian adults. Methods. We searched PubMed, Web of Science, Scopus, Africa Journals Online, African Index Medicus, and Google scholar as well as the websites of the Ministry of Health and Ghana Health service through September 2016. Only studies conducted among apparently “healthy” (no established disease, e.g., diabetes and hypertension adults aged ≥ 18 years were considered. Only studies that utilised the National Cholesterol Education Program Adult Treatment Panel (NCEP-ATP, World Health Organization (WHO, or International Diabetes Federation (IDF classifications for MetS were included. Results. Data from nine studies involving 1,559 individuals were pooled. The prevalence of MetS based on NCEP-ATP, WHO, and IDF classifications was 12.4% (95% confidence interval [CI] = 8.3–17.4%, 6.0% (95% CI = 1.4–13.1%, and 21.2% (95% CI = 12.4–30.9, respectively. Prevalence of MetS was higher among women than men. Conclusion. Among a population of adult Ghanaians deemed “healthy,” there is a high prevalence of MetS. Preventive measures are required to address the risk components of MetS such as obesity and hypertension which are rapidly rising in Ghana.

  17. Becoming a member of the work force: perceptions of adults with Asperger Syndrome.

    Science.gov (United States)

    Krieger, Beate; Kinébanian, Astrid; Prodinger, Birgit; Heigl, Franziska

    2012-01-01

    Research has shown that comparatively few adults with Asperger Syndrome (AS) participate in the competitive work force. The purpose of this study was to gain in-depth knowledge about contextual factors, which contribute to successful labor market participation in some adults with AS. This study was conducted by indepth-interviewing six adults with AS working in the competitive job market in Switzerland. A developmental and hermeneutic narrative approach was used for data collection and analysis. Two in-depth narrative interviews were conducted with each participant. A narrative analysis according to the theories of Paul Ricoeur was performed. Results showed that participants received pre-vocational requisites during their childhood through parents and friends that provided a feeling of security in social contexts. For participants, a supportive school setting resulted in academic achievements. The narratives reveal participants' capacities for understanding and adapting to social norms. Participants' understanding of their own needs was essential to the successful labor market participation. However, disclosure is rare and social stigma is still present. This study showed that successful labor participation of adults with AS can be enhanced through adequate social support already in the early stages of an individual's lifetime.

  18. Clinical Predictors of Mortality in Adults with Intellectual Disabilities with and without Down Syndrome

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    Lilian Thorpe

    2012-01-01

    Full Text Available Background. Mood, baseline functioning, and cognitive abilities as well as psychotropic medications may contribute to mortality in adults with and without Down Syndrome (DS. Methods. Population-based (nonclinical, community-dwelling adults with intellectual disabilities (IDs were recruited between 1995 and 2000, assessed individually for 1–4 times, and then followed by yearly phone calls. Results. 360 participants (116 with DS and 244 without DS were followed for an average of 12.9 years (range 0–16.1 years as of July 2011. 108 people died during the course of the followup, 65 males (31.9% of all male participants and 43 females (27.6% of all female participants. Cox proportional hazards modeling showed that baseline practical skills, seizures, anticonvulsant use, depressive symptoms, and cognitive decline over the first six years all significantly contributed to mortality, as did a diagnosis of DS, male gender, and higher age at study entry. Analysis stratified by DS showed interesting differences in mortality predictors. Conclusion. Although adults with DS have had considerable improvements in life expectancy over time, they are still disadvantaged compared to adults with ID without DS. Recognition of potentially modifiable factors such as depression may decrease this risk.

  19. Medication utilization for targeted symptoms in children and adults with fragile X syndrome: US survey.

    Science.gov (United States)

    Bailey, Donald B; Raspa, Melissa; Bishop, Ellen; Olmsted, Murrey; Mallya, Usha G; Berry-Kravis, Elizabeth

    2012-01-01

    To identify the most common neurological and behavioral symptoms treated by medications in individuals with fragile X syndrome (FXS), factors associated with treatment variability, and difficulty in swallowing a pill. A total of 1019 caregivers provided information about 1064 sons and 299 daughters with FXS in a US national survey. Caregivers reported (a) current use of medications for attention, anxiety, hyperactivity, mood swings, anger, depression, seizures, self-injury, or sleep; (b) perceived efficacy; and (c) difficulty in swallowing a pill. Sixty-one percent of males and 38% of females were currently taking medication for at least 1 symptom. The most common symptoms were anxiety, attention, and hyperactivity. Treatments for attention and hyperactivity were common in childhood but declined substantially after the age of 18 years; anxiety treatment remained high in adults. Children perceived to be more impaired and children diagnosed or treated for autism were more likely to be taking medications. Caregivers considered most medications somewhat effective, but less than one-third rated current medication as "a lot" effective. Many children had difficulty swallowing a pill, but only 11% of adult males and 2% of adult females had a lot of difficulty. Symptom-based medication use is common in FXS, although response is incomplete and there is clearly an unmet need for medications with improved efficacy. The persistent use of medications to treat anxiety, mood, and behavior problems throughout adolescence and into the adult years suggests important outcomes when evaluating the efficacy of new medications.

  20. The Miracle Baby Grows Up: Hypoplastic Left Heart Syndrome in the Adult.

    Science.gov (United States)

    Lewis, Matthew; Rosenbaum, Marlon

    2017-08-01

    Hypoplastic left heart syndrome (HLHS) is characterized by underdevelopment of the mitral valve, left ventricle, and aorta and is ultimately palliated with a single-ventricle repair. Universally fatal in infancy prior to the advent of modern surgical techniques, the majority of HLHS patients will now reach adulthood. However, despite improvements in early survival, the HLHS population continues to face significant morbidity and early mortality. This review delineates common sources of patient morbidity and highlights areas in need of additional research for this growing segment of the adult congenital heart disease population. It has become increasingly clear that palliated adult single ventricle patients, like those with HLHS, face significant life-long morbidity from elevated systemic venous pressures as a consequence of the Fontan procedure. Downstream organ dysfunction secondary to elevated Fontan pressures has the potential to significantly impact long-term management decisions, including strategies of organ allocation. Because of the presence of a morphologic systemic right ventricle, HLHS patients may be at even higher risk than other adult patients with a Fontan. Because the adult HLHS population continues to grow, recognition of common sources of patient morbidity and mortality is becoming increasingly important. A coordinated effort between patients and providers is necessary to address the many remaining areas of clinical uncertainty to help ensure continued improvement in patient prognosis and quality of life.

  1. [Refractory epilepsy status in Reye's syndrome in an adult. A case report].

    Science.gov (United States)

    Tihista-Jiménez, J A; Guergué-Irazabal, J M; Manrique-Celada, M

    Reye s syndrome (RS) is a potentially fatal disease described in 1963 by Reye, Morgan and Baral as an acute encephalopathy associated with a lipid degeneration of the liver. It affects children of all ages, with a peak incidence between 5 and 15 years old, but on rare occasions it can also affect adults. Its aetiology is not known, but is has been linked with viral infections and with the ingestion of salicylates. Its occurrence in adults is not at all frequent and only 27 cases have been recorded in the literature. We report the case of a 33 year old primiparous patient who, during lactation, began suffering from epilepsy and a lowered level consciousness in the course of an infection of the pharynx and tonsils, and died on the 12th day after admission to the ICU. Anamnesis revealed she had taken ASA for the first time in her life, which guided diagnosis, and this was confirmed post mortem in the anatomopathological examination. RS in adults occurs only rarely but should be a part of the differentiating diagnosis of any encephalopathy of unknown origin and especially of the epileptic status of an adult, above all if there is a history of ingestion of salicylates, previous viral infection and vomiting.

  2. Acute post cessation smoking. A strong predictive factor for metabolic syndrome among adult Saudis

    International Nuclear Information System (INIS)

    AlDaghri, Nasser M.

    2009-01-01

    To determine the influence of tobacco exposure in the development of metabolic syndrome (MS) in the adult Saudi population. Six hundred and sixty-four adults (305 males and 359 females) aged 25-70 years were included in this cross-sectional study conducted at the King Abdul Aziz University Hospital, between June 2006 and May 2007. We classified the participants into non-smokers, smokers, and ex-smokers (defined as complete cessation for 1-2 years). All subjects were screened for the presence of MS using the modified American Heart Association/National Heart, Lung and Blood Institute (AHA/NHLBI), International Diabetes Federation (IDF) and World Health Organization (WHO) definitions. Metabolic syndrome was highest among ex-smokers regardless of definition used. Relative risk for ex-smokers (95% CI: 2.23, 1.06-4.73) was more than twice in harboring MS as compared to non-smokers (95% CI: 2.78, 1.57-4.92) (p=0.009). Acute post-cessation smoking is a strong predictor for MS among male and female Arabs. Smoking cessation programs should include a disciplined lifestyle and dietary intervention to counteract the MS-augmenting side-effect of smoking cessation. (author)

  3. Prevalence of the metabolic syndrome among rural original adults in NingXia, China.

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    Yi, Zhao; Jing, Jin; Xiu-ying, Liu; Hongxia, Xu; Jianjun, Yang; Yuhong, Zhang

    2010-03-17

    Metabolic syndrome (MS) is combination of medical disorders that increase people's risk for cardiovascular disease and diabetes mellitus. Little data exists on the prevalence of MS of rural original adults in Ningxia of China. A cross-sectional survey method was used and the participants were interviewed by trained health workers under a structured questionnaire in rural of Ningxia in 2008. The number of research subjects was 1612. MS was defined by International Diabetes Federation IDF (2005). The age-adjusted prevalence of the metabolic syndrome was 11.8%, whereas ethnic-specific prevalence was 10.3% in Han ethnic group and 13.7% in Hui ethnic group. Components of MS and MS were more common in Hui ethnic group than Han ethnic group. The mean levels and prevalence of abnormal value increased with increasing age in both ethnic groups (Cochran-Artimage test for trend, Hui ethnic group P < 0.05, Han ethnic group P < 0.01). The prevalence of MS was high in rural residents' adults in Ningxia. Clustering of MS components and MS was increased with age. The components of MS have big differences among different ethnic groups.

  4. Irregular 24-hour activity rhythms and the metabolic syndrome in older adults.

    Science.gov (United States)

    Sohail, Shahmir; Yu, Lei; Bennett, David A; Buchman, Aron S; Lim, Andrew S P

    2015-01-01

    Circadian rhythms - near 24 h intrinsic biological rhythms - modulate many aspects of human physiology and hence disruption of circadian rhythms may have an important impact on human health. Experimental work supports a potential link between irregular circadian rhythms and several key risk factors for cardiovascular disease including hypertension, obesity, diabetes and dyslipidemia, collectively termed the metabolic syndrome. While several epidemiological studies have demonstrated an association between shift-work and the components of the metabolic syndrome in working-age adults, there is a relative paucity of data concerning the impact of non-occupational circadian irregularity in older women and men. To address this question, we studied 7 days of actigraphic data from 1137 older woman and men participating in the Rush Memory and Aging Project, a community-based cohort study of the chronic conditions of aging. The regularity of activity rhythms was quantified using the nonparametric interdaily stability metric, and was related to the metabolic syndrome and its components obesity, hypertension, diabetes and dyslipidemia. More regular activity rhythms were associated with a lower odds of having the metabolic syndrome (OR = 0.69, 95% CI = 0.60-0.80, p = 5.8 × 10(-7)), being obese (OR = 0.73, 95% CI = 0.63-0.85, p = 2.5 × 10(-5)), diabetic (OR = 0.76, 95% CI = 0.65-0.90, p = 9.3 × 10(-4)), hypertensive (OR = 0.78, 95% CI = 0.66-0.91, p = 2.0 × 10(-3)) or dyslipidemic (OR = 0.82, 95% CI = 0.72-0.92, p = 1.2 × 10(-3)). These associations were independent of differences in objectively measured total daily physical activity or rest, and were not accounted for by prevalent coronary artery disease, stroke or peripheral artery disease. Moreover, more regular activity rhythms were associated with lower odds of having cardiovascular disease (OR = 0.83; 95% CI = 0.73-0.95, p = 5

  5. Influence of the environment on participation in social roles for young adults with down syndrome.

    Science.gov (United States)

    Foley, Kitty-Rose; Girdler, Sonya; Bourke, Jenny; Jacoby, Peter; Llewellyn, Gwynnyth; Einfeld, Stewart; Tonge, Bruce; Parmenter, Trevor R; Leonard, Helen

    2014-01-01

    The concept of disability is now understood as a result of the interaction between the individual, features related to impairment, and the physical and social environment. It is important to understand these environmental influences and how they affect social participation. The purpose of this study is to describe the social participation of young adults with Down syndrome and examine its relationship with the physical and social environment. Families ascertained from the Down syndrome 'Needs Opinion Wishes' database completed questionnaires during 2011. The questionnaires contained two parts, young person characteristics and family characteristics. Young adults' social participation was measured using the Assessment of Life Habits (LIFE-H) and the influences of environmental factors were measured by the Measure of the Quality of the Environment (MQE). The analysis involved descriptive statistics and linear and logistic regression. Overall, participation in daily activities was higher (mean 6.45) than in social roles (mean 5.17) (range 0 to 9). When the physical and/or social environment was reported as a facilitator, compared to being no influence or a barrier, participation in social roles was greater (coef 0.89, 95%CI 0.28, 1.52, coef 0.83, 95%CI 0.17, 1.49, respectively). The relationships between participation and both the physical (coef 0.60, 95% CI -0.40, 1.24) and social (coef 0.20, 95%CI -0.47, 0.87) environments were reduced when age, gender, behavior and functioning in ADL were taken into account. We found that young adults' participation in social roles was influenced more by the physical environment than by the social environment, providing a potentially modifiable avenue for intervention.

  6. Reduced transcription of TCOF1 in adult cells of Treacher Collins syndrome patients

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    Camargo Anamaria A

    2009-12-01

    Full Text Available Abstract Background Treacher Collins syndrome (TCS is an autosomal dominant craniofacial disorder caused by frameshift deletions or duplications in the TCOF1 gene. These mutations cause premature termination codons, which are predicted to lead to mRNA degradation by nonsense mediated mRNA decay (NMD. Haploinsufficiency of the gene product (treacle during embryonic development is the proposed molecular mechanism underlying TCS. However, it is still unknown if TCOF1 expression levels are decreased in post-embryonic human cells. Methods We have estimated TCOF1 transcript levels through real time PCR in mRNA obtained from leucocytes and mesenchymal cells of TCS patients (n = 23 and controls (n = 18. Mutational screening and analysis of NMD were performed by direct sequencing of gDNA and cDNA, respectively. Results All the 23 patients had typical clinical features of the syndrome and pathogenic mutations were detected in 19 of them. We demonstrated that the expression level of TCOF1 is 18-31% lower in patients than in controls (p , even if we exclude the patients in whom we did not detect the pathogenic mutation. We also observed that the mutant allele is usually less abundant than the wild type one in mesenchymal cells. Conclusions This is the first study to report decreased expression levels of TCOF1 in TCS adult human cells, but it is still unknown if this finding is associated to any phenotype in adulthood. In addition, as we demonstrated that alleles harboring the pathogenic mutations have lower expression, we herein corroborate the current hypothesis of NMD of the mutant transcript as the explanation for diminished levels of TCOF1 expression. Further, considering that TCOF1 deficiency in adult cells could be associated to pathologic clinical findings, it will be important to verify if TCS patients have an impairment in adult stem cell properties, as this can reduce the efficiency of plastic surgery results during rehabilitation of these

  7. Reduced transcription of TCOF1 in adult cells of Treacher Collins syndrome patients.

    Science.gov (United States)

    Masotti, Cibele; Ornelas, Camila C; Splendore-Gordonos, Alessandra; Moura, Ricardo; Félix, Têmis M; Alonso, Nivaldo; Camargo, Anamaria A; Passos-Bueno, Maria Rita

    2009-12-14

    Treacher Collins syndrome (TCS) is an autosomal dominant craniofacial disorder caused by frameshift deletions or duplications in the TCOF1 gene. These mutations cause premature termination codons, which are predicted to lead to mRNA degradation by nonsense mediated mRNA decay (NMD). Haploinsufficiency of the gene product (treacle) during embryonic development is the proposed molecular mechanism underlying TCS. However, it is still unknown if TCOF1 expression levels are decreased in post-embryonic human cells. We have estimated TCOF1 transcript levels through real time PCR in mRNA obtained from leucocytes and mesenchymal cells of TCS patients (n = 23) and controls (n = 18). Mutational screening and analysis of NMD were performed by direct sequencing of gDNA and cDNA, respectively. All the 23 patients had typical clinical features of the syndrome and pathogenic mutations were detected in 19 of them. We demonstrated that the expression level of TCOF1 is 18-31% lower in patients than in controls (p TCOF1 in TCS adult human cells, but it is still unknown if this finding is associated to any phenotype in adulthood. In addition, as we demonstrated that alleles harboring the pathogenic mutations have lower expression, we herein corroborate the current hypothesis of NMD of the mutant transcript as the explanation for diminished levels of TCOF1 expression. Further, considering that TCOF1 deficiency in adult cells could be associated to pathologic clinical findings, it will be important to verify if TCS patients have an impairment in adult stem cell properties, as this can reduce the efficiency of plastic surgery results during rehabilitation of these patients.

  8. Influence of the environment on participation in social roles for young adults with down syndrome.

    Directory of Open Access Journals (Sweden)

    Kitty-Rose Foley

    Full Text Available The concept of disability is now understood as a result of the interaction between the individual, features related to impairment, and the physical and social environment. It is important to understand these environmental influences and how they affect social participation. The purpose of this study is to describe the social participation of young adults with Down syndrome and examine its relationship with the physical and social environment.Families ascertained from the Down syndrome 'Needs Opinion Wishes' database completed questionnaires during 2011. The questionnaires contained two parts, young person characteristics and family characteristics. Young adults' social participation was measured using the Assessment of Life Habits (LIFE-H and the influences of environmental factors were measured by the Measure of the Quality of the Environment (MQE. The analysis involved descriptive statistics and linear and logistic regression.Overall, participation in daily activities was higher (mean 6.45 than in social roles (mean 5.17 (range 0 to 9. When the physical and/or social environment was reported as a facilitator, compared to being no influence or a barrier, participation in social roles was greater (coef 0.89, 95%CI 0.28, 1.52, coef 0.83, 95%CI 0.17, 1.49, respectively. The relationships between participation and both the physical (coef 0.60, 95% CI -0.40, 1.24 and social (coef 0.20, 95%CI -0.47, 0.87 environments were reduced when age, gender, behavior and functioning in ADL were taken into account.We found that young adults' participation in social roles was influenced more by the physical environment than by the social environment, providing a potentially modifiable avenue for intervention.

  9. Prevalence of the metabolic syndrome diagnosed using three different definitions and risk of ischemic heart disease among Kaunas adult population.

    Science.gov (United States)

    Luksiene, Dalia Ieva; Baceviciene, Migle; Tamosiūnas, Abdonas; Cerniauskiene, Liucija Rita; Margeviciene, Lilija; Reklaitiene, Regina

    2010-01-01

    The aim of this study was to compare the prevalence of the metabolic syndrome diagnosed using three different definitions and to evaluate its associations with ischemic heart disease in Kaunas adult population. MATERIAL AND METHODS. Data of preventive screening carried out in Kaunas in 2001-2002 according to the MONICA study protocol were used for analysis; a total of 1336 persons aged 35-64 years (603 men and 733 women) were recruited. The metabolic syndrome was defined by the World Health Organization, Adult Treatment Panel III, and International Diabetes Federation definitions. Ischemic heart disease was diagnosed based on the following criteria: a documented history of myocardial infarction, angina pectoris, or ischemic changes on electrocardiogram. RESULTS. The metabolic syndrome was identified for 11.3% of men and for 9.4% of women using the World Health Organization definition, for 19.4% of men and for 26.3% of women using the Adult Treatment Panel III definition, and for 30.0% of men and for 37.7% of women using the International Diabetes Federation definition. In male and female groups, the prevalence of the metabolic syndrome (irrespective of definition) significantly increased with age (Pmetabolic syndrome using the International Diabetes Federation definition (OR=2.30; P=0.001) and Adult Treatment Panel III definition (OR=1.97; P=0.01) and women diagnosed with metabolic syndrome using the International Diabetes Federation definition (OR=1.50; P=0.039) had a significantly higher risk of having ischemic heart disease as compared with those without the metabolic syndrome by the same definitions. The metabolic syndrome diagnosed using the World Health Organization definition was not associated with a significant risk of ischemic heart disease in men and women. CONCLUSION. In Kaunas population aged 35-64 years, the highest prevalence of the metabolic syndrome was determined according to the International Diabetes Federation definition. Usage of the

  10. FANCD2 Western blot as a diagnostic tool for Brazilian patients with Fanconi anemia

    Directory of Open Access Journals (Sweden)

    D.V. Pilonetto

    2009-03-01

    Full Text Available Fanconi anemia is a rare hereditary disease showing genetic heterogeneity due to a variety of mutations in genes involved in DNA repair pathways, which may lead to different clinical manifestations. Phenotypic variability makes diagnosis difficult based only on clinical manifestations, therefore laboratory tests are necessary. New advances in molecular pathogenesis of this disease led researchers to develop a diagnostic test based on Western blot for FANCD2. The objective of the present study was to determine the efficacy of this method for the diagnosis of 84 Brazilian patients with Fanconi anemia, all of whom tested positive for the diepoxybutane test, and 98 healthy controls. The FANCD2 monoubiquitinated isoform (FANCDS+/FANCD2L- was not detected in 77 patients (91.7%. In 2 patients (2.4%, there was an absence of both the monoubiquitinated and the non-ubiquitinated proteins (FANCD2S-/FANCD2L- and 5 patients (5.9% had both isoforms (FANCD2S+/FANCD2L+. This last phenotype suggests downstream subtypes or mosaicism. All controls were diepoxybutane negative and were also negative on the FANCD2 Western blot. The Western blot for FANCD2 presented a sensitivity of 94% (79/84 and specificity of 100% (98/98. This method was confirmed as an efficient approach to screen Brazilian patients with deleterious mutations on FANCD2 (FANCD2S-/FANCD2L- or other upstream genes of the FA/BRCA pathway (FANCDS+/FANCD2L-, to confirm the chromosome breakage test and to classify patients according to the level of FA/BRCA pathway defects. However, patients showing both FANCD2 isoforms (FANCD2S+/FANCD2L+ require additional studies to confirm mutations on downstream Fanconi anemia genes or the presence of mosaicism.

  11. Management of dental extraction in a female patient with fanconi anemia.

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    Andre Peisker

    2014-10-01

    Full Text Available Oral surgery in patients with bleeding disorders is associated with a high risk of bleeding during and after surgery. This article is aimed to present the case of an eight-year-old girl suffering from severe Fanconi anemia with pancytopenia who underwent a dental extraction. The hemostatic effect of local administration of tranexamic acid in combination with a primary suture seems to be extremely helpful in order to reduce the necessity of blood products and the risk of postoperative bleeding.

  12. Health status, quality of life and medical care in adult women with Turner syndrome

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    Diana-Alexandra Ertl

    2018-04-01

    Full Text Available Background: Previous studies have shown that only a minority of patients with Turner syndrome (TS have adequate medical care after transfer to adult care. Aim of this study: To assess the status of medical follow-up and quality of life (QoL in adult women diagnosed with TS and followed up until transfer. To compare the subjective and objective view of the medical care quality and initiate improvements based on patients’ experiences and current recommendations. Methods: 39 adult women with TS out of 64 patients contacted were seen for a clinical and laboratory check, cardiac ultrasound, standardized and structured questionnaires (SF-36v2 and Beck depression inventory. Results: 7/39 of the patients were not being followed medically at all. Only 2/39 consulted all the specialists recommended. Comorbidities were newly diagnosed in 27/39 patients; of these, 11 related to the cardiovascular system. Patients in our cohort scored as high as the mean reference population for SF-36v2 in both mental and physical compartments. Obese participants had lower scores in the physical function section, whereas higher education was related to higher physical QoL scores. Adult height slightly correlated positively with physical health. Conclusion: Medical follow-up was inadequate in our study cohort of adults with TS. Even though their medical follow-up was insufficient, these women felt adequately treated, leaving them vulnerable for premature illness. Initiatives in health autonomy and a structured transfer process as well as closer collaborations within specialities are urgently needed.

  13. Cognitive and executive functions, social cognition and sense of coherence in adults with fetal alcohol syndrome.

    Science.gov (United States)

    Rangmar, Jenny; Sandberg, Annika Dahlgren; Aronson, Marita; Fahlke, Claudia

    2015-08-01

    Primary disabilities in children with fetal alcohol syndrome (FAS) are the results of alcohol's teratogen effect on the fetal brain. Reduced cognitive and executive functions and social cognition are examples of such disabilities. Little is known about primary disabilities in adults with FAS as well as their sense of coherence (SoC). There is thus a need for knowledge about FAS in adulthood. To investigate cognitive and executive functions, social cognition and SoC in adults with FAS. Twenty adults with FAS (mean age: 30 years) were compared with 20 individuals matched on gender and age. Berg's Card-sorting Test-64, the Tower of Hanoi, Raven's Coloured Progressive Matrices, Digit Span, Faux Pas and the Swedish version of Antonovsky's Sense of Coherence Scale (SoC-29) were used. The FAS group had a weak SoC and displayed deficits in the neuropsychological tests sensitive to cognitive and executive functions and social cognition. The FAS group's median SoC score was 112, lower than the comparison group's median of 133 (P executive functions and impaired social cognition are assumed to have a major impact on life for adults with FAS. We suggest that the findings showing that adults with FAS had a weak SoC, with particularly low scores on the manageability scale, reflect their experiences of living with those primary disabilities. This study may enhance healthcare for individuals prenatally exposed to alcohol. In general, it contributes with knowledge about this group of individuals who need to be more visible in healthcare, and particularly, it demonstrates some of the neuropsychological disabilities they might have.

  14. 22q11.2 deletion syndrome lowers seizure threshold in adult patients without epilepsy.

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    Wither, Robert G; Borlot, Felippe; MacDonald, Alex; Butcher, Nancy J; Chow, Eva W C; Bassett, Anne S; Andrade, Danielle M

    2017-06-01

    Previous studies examining seizures in patients with 22q11.2 deletion syndrome (22q11.2DS) have focused primarily on children and adolescents. In this study we investigated the prevalence and characteristics of seizures and epilepsy in an adult 22q11.2DS population. The medical records of 202 adult patients with 22q11.2DS were retrospectively reviewed for documentation of seizures, electroencephalography (EEG) reports, and magnetic resonance imaging (MRI) findings. Epilepsy status was assigned in accordance with 2010 International League Against Epilepsy Classification. Of 202 patients, 32 (15.8%) had a documented history of seizure. Of these 32, 23 (71.8%) had acute symptomatic seizures, usually associated with hypocalcemia and/or antipsychotic or antidepressant use. Nine patients (9/32, 28%; 9/202, 4%) met diagnostic criteria for epilepsy. Two patients had genetic generalized epilepsy; two patients had focal seizures of unknown etiology; two had epilepsy due to malformations of cortical development; in two the epilepsy was due to acquired structural changes; and in one patient the epilepsy could not be further classified. Similarly to children, the prevalence of epilepsy and acute symptomatic seizures in adults with 22q11.2DS is higher than in the general population. Hypocalcemia continues to be a risk factor for adults, but differently from kids, the main cause of seizures in adults with 22q11.2DS is exposure to antipsychotics and antidepressants. Further prospective studies are warranted to investigate how 22q11.2 microdeletion leads to an overall decreased seizure threshold. Wiley Periodicals, Inc. © 2017 International League Against Epilepsy.

  15. Incidence and Spectrum of Renal Complications and Extrarenal Diseases and Syndromes in 380 Children and Young Adults With Horseshoe Kidney.

    Science.gov (United States)

    Je, Bo-Kyung; Kim, Hee Kyung; Horn, Paul S

    2015-12-01

    The objective of our study was to evaluate the incidence and spectrum of renal complications and of extrarenal diseases and syndromes in children with horseshoe kidney (HSK). The clinical data and imaging studies of 380 subjects (median age, 2.8 years) diagnosed with HSK over a 24-year period were reviewed: 366 children and young adults and 14 fetuses, one of whom died in utero. All renal complications and extrarenal diseases and syndromes were documented. Patient age, initial imaging modality, follow-up imaging modalities, and imaging modality at diagnosis were recorded. One hundred seventy-five patients (46.1%) had renal complications. Pelvocaliectasis without an identifiable cause was the most common complication (n = 83, 21.8%) followed by vesicoureteral reflux (n = 37, 9.7%). Less common renal complications included duplex kidney, multicystic dysplastic kidney, renal stones, asymmetric renal size, ureteropelvic junction obstruction, ureteral stones, acute pyelonephritis, trauma, and renal rhabdomyosarcoma. One hundred ninety patients (50%) had extrarenal diseases or syndromes. Gastrointestinal tract (n = 62) and vertebral (n = 54) anomalies were the most common. Forty-nine patients had syndromes. Turner syndrome was the most common (n = 16) followed by caudal regression syndrome (n = 9). HSK was missed on initial imaging in 42 of 364 postnatal renal examinations and was diagnosed later. The patient groups with renal complications and with extrarenal diseases or syndromes and a missed diagnosis of HSK were significantly younger than the groups without them (p children with HSK have renal complications or extrarenal diseases or syndromes. The incidence is higher in younger children, and the spectrum of complications, diseases, and syndromes differs from those reported in previous studies of adults with HSK. Children with HSK, especially young children, therefore require follow-up renal examinations and extensive extrarenal workup.

  16. Parinaud syndrome: a 25-year (1991-2016) review of 40 consecutive adult cases.

    Science.gov (United States)

    Shields, Melissa; Sinkar, Swati; Chan, WengOnn; Crompton, John

    2017-12-01

    To characterize the clinical features, aetiology and management of ophthalmic symptoms in adult patients with Parinaud syndrome. This is a retrospective, non-comparative observational case series. We reviewed 40 consecutive charts of adult patients with the clinical diagnosis of Parinaud syndrome at the Royal Adelaide Hospital Department of Ophthalmology in Adelaide, South Australia, between 1991 and 2016. Charts were reviewed for the following: (1) demographic information, (2) clinical presentation, (3) neuro-ophthalmology signs, (4) aetiology of Parinaud syndrome, and (5) management. Examination findings were collected at initial evaluation, throughout the course of follow-up, and at last follow-up. All the cases were assessed by one of the authors (JLC). The commonest presenting symptoms were diplopia (67.5%) and blurred vision (25%) followed by visual field defect (12.5%), ataxia (7.5%) and manifest squint (7.5%). The commonest presenting signs were vertical gaze palsy (100%), convergence-retraction nystagmus (87.5%) and light-near dissociation (65.0%). Only 65.0% patients had the classical triad of vertical gaze palsy, convergence-retraction nystagmus and light-near dissociation. Midbrain pathologies including haemorrhage (30.0%), infarction (20.0%) and tumour (15.0%) were the commonest aetiology. Pineal region tumours accounted for 30.0% of presentations. Symptoms were managed conservatively in 45% of cases with temporary occlusion, prisms or refractive correction, and observation in 42.5% of cases. Surgical intervention for refractory diplopia was required in 12.5% of cases, of which 80% reported symptom resolution following surgery. Our series highlights the variable clinical presentation of Parinaud syndrome. The classic triad of conjugate upgaze paralysis, convergence-retraction nystagmus and light-near dissociation was only present in 65% of cases. Pineal neoplasms remain an important aetiological consideration; however, primary midbrain pathology

  17. Obesity in adults with 22q11.2 deletion syndrome.

    Science.gov (United States)

    Voll, Sarah L; Boot, Erik; Butcher, Nancy J; Cooper, Samantha; Heung, Tracy; Chow, Eva W C; Silversides, Candice K; Bassett, Anne S

    2017-02-01

    To characterize the prevalence of and contributing factors to adult obesity in the most common recurrent copy-number variation (CNV), 22q11.2 deletion, given that other rare CNVs are known to have obesity phenotypes. In 207 adults with 22q11.2 deletion syndrome (22q11.2DS), we used available height and weight measurements to calculate body mass index (BMI) and recorded associated factors that could play a role in obesity. We used the maximum BMI per subject and logistic regression to test a model predicting obesity class. The prevalence of obesity (BMI ≥30) in 22q11.2DS (n = 90, 43.5%; at median age of 26.7 years) was significantly greater than for Canadian norms (odds ratio (OR) 2.30, 95% confidence interval (CI) = 1.74-3.02, P obesity level. Ten (4.8%) individuals were diagnosed with type 2 diabetes at a median age of 39.5 years; the prevalence was higher in those with obesity (P adult obesity is related to the 22q11.2 deletion. The findings expand the potential genetic causes of obesity and have important implications for management of 22q11.2DS.Genet Med 19 2, 204-208.

  18. The effects of context processing on social cognition impairments in adults with Asperger's syndrome

    Science.gov (United States)

    Baez, Sandra; Ibanez, Agustin

    2014-01-01

    Social cognition—the basis of all communicative and otherwise interpersonal relationships—is embedded in specific contextual circumstances which shape intrinsic meanings. This domain is compromised in the autism spectrum disorders (ASDs), including Asperger's syndrome (AS) (DSM-V). However, the few available reports of social cognition skills in adults with AS have largely neglected the effects of contextual factors. Moreover, previous studies on this population have also failed to simultaneously (a) assess multiple social cognition domains, (b) examine executive functions, (c) follow strict sample selection criteria, and (d) acknowledge the cognitive heterogeneity typical of the disorder. The study presently reviewed (Baez et al., 2012), addressed all these aspects in order to establish the basis of social cognition deficits in adult AS patients. Specifically, we assessed the performance of AS adults in multiple social cognition tasks with different context-processing requirements. The results suggest that social cognition deficits in AS imply a reduced ability to implicitly encode and integrate contextual cues needed to access social meaning. Nevertheless, the patients' performance was normal when explicit social information was presented or when the situation could be navigated with abstract rules. Here, we review the results of our study and other relevant data, and discuss their implications for the diagnosis and treatment of AS and other neuropsychiatric conditions (e.g., schizophrenia, bipolar disorder, frontotemporal dementia). Finally, we analyze previous results in the light of a current neurocognitive model of social-context processing. PMID:25232301

  19. Adolescents and adults affected by Cornelia de Lange syndrome: A report of 73 Italian patients.

    Science.gov (United States)

    Mariani, Milena; Decimi, Valentina; Bettini, Laura Rachele; Maitz, Silvia; Gervasini, Cristina; Masciadri, Maura; Ajmone, Paola; Kullman, Gaia; Dinelli, Marco; Panceri, Roberto; Cereda, Anna; Selicorni, Angelo

    2016-06-01

    Cornelia de Lange syndrome (CdLS) is a rare genetic condition related to mutation of various cohesion complex related genes. Its natural history is quite well characterized as regard pediatric age. Relatively little information is available regarding the evolution of the disease in young-adult age. In medical literature, only one specific study has been published on this topic. We report on our experience on 73 Italian CdLS patients (40 males and 33 females) with and age range from 15 to 49 years. Our results confirm the previous study indicating that gastroesophageal reflux disease (GERD) is the main medical problem of these patients in childhood and young-adult age. Other medical features that should be considered in the medical follow-up are tendency to overweight/frank obesity, constipation, discrepancy of limbs' length, epilepsy, hearing, and visual problems. Behavioral problems are particularly frequent as well. For this reason, every source of hidden pain should be actively searched for in evaluating a patient showing such a disorder. Finally, recommendations for medical follow-up in adult age are discussed. © 2016 Wiley Periodicals, Inc. © 2016 Wiley Periodicals, Inc.

  20. The effects of context processing on social cognition impairments in adults with Asperger’s syndrome

    Directory of Open Access Journals (Sweden)

    Sandra eBaez

    2014-09-01

    Full Text Available Social cognition –the basis of all communicative and otherwise interpersonal relationships– is embedded in specific contextual circumstances which shape intrinsic meanings. This domain is compromised in the autism spectrum disorders, including Asperger’s syndrome (AS (DSM-V. However, the few available reports of social cognition skills in adults with AS have largely neglected the effects of contextual factors. Moreover, previous studies on this population have also failed to simultaneously (a assess multiple social cognition domains, (b examine executive functions, (c follow strict sample selection criteria, and (d acknowledge the cognitive heterogeneity typical of the disorder. The study presently reviewed (Baez et al., 2012 addressed all these aspects in order to establish the basis of social cognition deficits in adult AS patients. Specifically, we assessed the performance of AS adults in multiple social cognition tasks with different context-processing requirements. The results suggest that social cognition deficits in AS imply a reduced ability to implicitly encode and integrate contextual cues needed to access social meaning. Nevertheless, the patients’ performance was normal when explicit social information was presented or when the situation could be navigated with abstract rules. Here, we review the results of our study and other relevant data, and discuss their implications for the diagnosis and treatment of AS and other neuropsychiatric conditions (e.g., schizophrenia, bipolar disorder, frontotemporal dementia. Finally, we analyze previous results in the light of a current neurocognitive model of social-context processing.

  1. [Scales for evaluation of mortality of patients with trauma and adult respiratory distress syndrome].

    Science.gov (United States)

    Hernández-Gutiérrez, P; Grifé-Coromina, A; de la Garza-Estrada, V A

    1997-01-01

    To compare different scores and scales used to evaluate mortality in patients with trauma and adult respiratory distress syndrome (ARDS). The clinical charts of 80 adult patients, 70 men and 10 women, who were admitted during the period from January Ist, 1990, to December 31st, 1993, to the Hospital Guillermo Barroso C., Cruz Roja Mexicana in Mexico City with trauma and ARDS, were revised. The following data were evaluated: sex, age, injury-producing mechanisms, associated morbid conditions (shock, multiple blood transfusions, long bone fracture, pulmonary contusion and sepsis), ARDS diagnostic criteria, systemic failure, multiple organ failure, injury severity score. Acute Physiology and Chronic Health Evaluation Scoring System, time elapsed to ARDS diagnosis, period of tracheal intubation and stay at the intensive care unit. Of the 80 patients, 26 died (32.5%), 2 women and 24 men. Injury-producing mechanisms were: running over (31.3%), car accidents (27.5%), gunshot wounds (15%), stab wounds (13.7%) multiple contusions (7.5%) and falls (5%). A highly significant relationship was found between all scores and scales investigated and mortality. In pulmonary contusion and gastrointestinal failure correlation was doubtful; period of tracheal intubation and stay at the intensive care unit showed no correlation to mortality. Adult patients with trauma who develop ARDS showed high probability of death if additional clinical data of shock and consolidation in three or four quadrants of thorax X-rays are present, among other factors.

  2. Prevalence of metabolic syndrome in urban and suburban Rivers State, Nigeria: International Diabetes Federation and Adult Treatment Panel III definitions.

    Science.gov (United States)

    Siminialayi, I M; Emem-Chioma, P C; Odia, O J

    2010-06-01

    It was not clear for a while, which of the definitions of metabolic syndrome best predicted those at risk of cardiovascular disease and diabetes but recent studies have confirmed the predictive ability of various definitions of metabolic syndrome and have reported that the International Diabetes Federation definition, although more sensitive is associated with a higher false positive predictive rate. To determine the prevalence of metabolic syndrome, using the International Diabetes Federation and Adult Treatment Panel III definitions among adult Nigerians attending Family Medicine Clinics at two hospitals in Rivers State Nigeria. Adult subjects attending family medicine clinics at an urban and a sub-urban hospital in Rivers State, Nigeria were bled after an overnight fast, and venous blood obtained for lipid studies and fasting plasma glucose estimations. Measurements were made to determine height, weight, waist circumference and blood pressure. The data obtained was analysed using SPSS for Windows software version 12 and Epi info version 6.04D RESULTS: The prevalence of metabolic syndrome was 19.81% (ATP III) and 23.19% (IDF) at one centre and 34.17% (ATP III) and 35.42% (IDF) at the other centre. The prevalence of metabolic syndrome by the two definitions was significantly higher at the second centre. The difference in the prevalence rates by the two definitions was also much smaller in the second centre perhaps because the second centre had more women and the mean age of the subjects was significantly higher.

  3. A Cross-Sectional Study of the Phenotypes of Obesity and Insulin Resistance in Adults with Down Syndrome

    Directory of Open Access Journals (Sweden)

    Diego Real de Asua

    2014-12-01

    Full Text Available BackgroundDespite the confluence of multiple cardiovascular risk factors, subclinical atherosclerotic damage and cardiovascular events remain extremely rare in adults with Down syndrome (DS. We aim to determine the prevalence of obesity and metabolic disorders in an adult cohort with DS and to compare our findings with adults without DS.MethodsCross-sectional study of 51 consecutively selected adults with DS living in the community and 51 healthy controls in an outpatient clinic of a tertiary care hospital in Madrid, Spain. Epidemiological data (age and gender, anthropometric data (body mass index and waist-to-height ratio, coexisting clinical conditions, and laboratory data (fasting glucose, insulin, glycated hemoglobin, creatinine, thyroid hormones, vitamins, and lipid profile were measured and compared between the groups.ResultsAdults with DS were significantly younger and more often men with a higher prevalence of overweight and obesity than controls. Their waist-to-height ratio was higher, and they more frequently had abdominal obesity. The results of an analysis adjusted for age and gender revealed no differences in fasting insulin levels, homeostatic model assessment indexes, or lipid profile between adults with DS and controls.ConclusionAdults with DS presented a high prevalence of overweight and obesity. However, we found no differences in lipid profile, prevalence of insulin resistance, or metabolic syndrome between adults with DS and controls.

  4. Adult siblings of individuals with Down syndrome versus with autism: findings from a large-scale US survey.

    Science.gov (United States)

    Hodapp, R M; Urbano, R C

    2007-12-01

    As adults with Down syndrome live increasingly longer lives, their adult siblings will most likely assume caregiving responsibilities. Yet little is known about either the sibling relationship or the general functioning of these adult siblings. Using a national, web-based survey, this study compared adult siblings of individuals with Down syndrome to siblings of individuals with autism in terms of a potential 'Down syndrome advantage' and changes across age of the brother/sister with disabilities. Two groups were examined, siblings of persons with Down syndrome (n = 284) and with autism (n = 176). The Adult Sibling Questionnaire measured the number and length of contacts between siblings and their brothers/sisters with disabilities; the warmth, closeness and positiveness of the sibling relationship; and the sibling's overall levels of perceived health, depression and rewards of being a sibling. Compared with siblings of brothers/sisters with autism, siblings of brothers/sisters with Down syndrome showed closer, warmer sibling relationships, along with slightly better health, lower levels of depressive symptoms and more contacts. Across age groups of the brother/sister with disabilities, both groups showed lessened contacts, with less close sibling relationships occurring when brothers/sisters with disabilities were aged 30-44 years and 45 years and older (in Down syndrome) and 45 years and older (in autism). Within both groups, closer sibling relationships were associated with more frequent and lengthy contacts, brothers/sisters with disabilities who were better at maintaining friendships and had lower levels of behavioural/emotional problems, and siblings who felt themselves more rewarded by being a sibling to a brother/sister with disabilities. In line with earlier work on families of children with disabilities, this study shows an advantage for siblings of adults with Down syndrome, in terms of both sibling relationships and of slightly better health and

  5. The Cambridge Mindreading (CAM) Face-Voice Battery: Testing Complex Emotion Recognition in Adults with and without Asperger Syndrome

    Science.gov (United States)

    Golan, Ofer; Baron-Cohen, Simon; Hill, Jacqueline

    2006-01-01

    Adults with Asperger Syndrome (AS) can recognise simple emotions and pass basic theory of mind tasks, but have difficulties recognising more complex emotions and mental states. This study describes a new battery of tasks, testing recognition of 20 complex emotions and mental states from faces and voices. The battery was given to males and females…

  6. The role of frailty in explaining the association between the metabolic syndrome and mortality in older adults

    NARCIS (Netherlands)

    Hoogendijk, Emiel O; Huisman, Martijn; van Ballegooijen, Adriana J

    2017-01-01

    The association between the metabolic syndrome (MetS) and adverse outcomes in older adults may be explained by other health conditions. This study examined the role of frailty in explaining the association between MetS and mortality, independent of comorbidity. Data were used from 1247 men and women

  7. Behaviour Problems, Maternal Internalising Symptoms and Family Relations in Families of Adolescents and Adults with Fragile X Syndrome

    Science.gov (United States)

    Baker, J. K.; Seltzer, M. M.; Greenberg, J. S.

    2012-01-01

    Background: Studies have linked the behaviour problems of children with fragile X syndrome (FXS) to maternal well-being, but less is known about how behaviour problems relate to important family factors such as marital satisfaction and family cohesion. Methods: Married mothers of 115 adolescents and adults with FXS completed questionnaires and…

  8. The Relationship between Autistic Symptomatology and Independent Living Skills in Adolescents and Young Adults with Fragile X Syndrome

    Science.gov (United States)

    Hustyi, Kristin M.; Hall, Scott S.; Quintin, Eve-Marie; Chromik, Lindsay C.; Lightbody, Amy A.; Reiss, Allan L.

    2015-01-01

    Few studies have examined the relationship between autistic symptomatology and competence in independent living skills in adolescents and young adults with fragile X syndrome (FXS). In this study, 70 individuals with FXS, aged 15-25 years, and 35 matched controls were administered direct measures of independent living skills and autistic…

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

    Science.gov (United States)

    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.

  10. The Fanconi Anemia BRCA Pathway as a Predictor of Benefit from Bevacizumab in a Large Phase 3 Clinical Trial in Ovarian Cancer

    Science.gov (United States)

    2014-12-01

    1 AWARD NUMBER: W81XWH-13-1-0421 TITLE: The Fanconi Anemia BRCA Pathway as a Predictor of Benefit from Bevacizumab in a Large Phase III Clinical...DATES COVERED 30Sep2013 - 29Sep2015 4. TITLE AND SUBTITLE 5a. CONTRACT NUMBER W81XWH-13-1-0421 The Fanconi Anemia BRCA Pathway as a Predictor of...another upfront clinical trial GOG262. We found that germline or somatic mutations in the BRCA -Fanconi anemia pathway was significantly associated with

  11. Cyclic Vomiting Syndrome (CVS: is there a difference based on onset of symptoms - pediatric versus adult?

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    Kumar Nilay

    2012-05-01

    Full Text Available Abstract Background Cyclic Vomiting Syndrome (CVS is a well-recognized functional gastrointestinal disorder in children but its presentation is poorly understood in adults. Genetic differences in pediatric-onset (presentation before age 18 and adult-onset CVS have been reported recently but their clinical features and possible differences in response to therapy have not been well studied. Methods This was a retrospective review of 101 CVS patients seen at the Medical College of Wisconsin between 2006 and 2008. Rome III criteria were utilized to make the diagnosis of CVS. Results Our study population comprised of 29(29% pediatric-onset and 72 (71% adult-onset CVS patients. Pediatric-onset CVS patients were more likely to be female (86% vs. 57%, p = 0.005 and had a higher prevalence of CVS plus (CVS + neurocognitive disorders as compared to adult-onset CVS patients (14% vs. 3%, p = 0.05. There was a longer delay in diagnosis (10 ± 7 years in the pediatric-onset group when compared to (5 ± 7 years adult-onset CVS group (p = 0.001. Chronic opiate use was less frequent in the pediatric-onset group compared to adult-onset patients (0% vs. 23%, p = 0.004. Aside from these differences, the two groups were similar with regards to their clinical features and the time of onset of symptoms did not predict response to standard treatment. The majority of patients (86% responded to treatment with tricyclic antidepressants, anticonvulsants (topiramate, coenzyme Q-10, and L-carnitine. Non-response to therapy was associated with coalescence of symptoms, chronic opiate use and more severe disease as characterized by longer episodes, greater number of emergency department visits in the year prior to presentation, presence of disability and non-compliance on univariate analysis. On multivariate analysis, only compliance to therapy was associated with a response. (88% vs. 38%, Odds Ratio, OR 9.6; 95% Confidence Interval [CI], 1.18-77.05. Conclusion Despite reported

  12. "I have a good life": the meaning of well-being from the perspective of young adults with Down syndrome.

    Science.gov (United States)

    Scott, Melissa; Foley, Kitty-Rose; Bourke, Jenny; Leonard, Helen; Girdler, Sonya

    2014-01-01

    The purposes of this study were to explore what makes for a "good life" from the perspective of young adults with Down syndrome and to identify the barriers and facilitators to participation. Twelve young adults with Down syndrome participated in individual and group discussions. Each session began with individual discussions between a researcher and participant, allowing each individual to express their views in their own words. Following individual discussions, participants joined a larger group facilitated by the researchers which allowed for collective reflection and sharing of experiences. Individual discussions were recorded on large poster size pieces of paper through drawings and writing using colourful pens by the participants themselves or with assistance from researchers. Group discussions were audio recorded and one researcher recorded field notes on contextual information. Data were analyzed through open coding and constant comparison techniques to identify categories which were then collapsed into the main themes. Analysis of the transcripts revealed four main themes: "Relationships", "Community participation", "Independence" and "Hopes for the future". These findings highlighted the participants' desire for autonomy, particularly in the domains of living independently and employment. Family relationships and community services were described as both facilitators and barriers to their participation. Overall, the findings from this study revealed that the participants' life perspective was positive, with a general consensus of, "I have a good life". This study yielded many recommendations that could be integrated into transition models of service delivery for young adults with Down syndrome as they develop from adolescence into adulthood. IMPLICATIONS OF REHABILITATION: Young people with Down syndrome want to make decisions for themselves. Community participation is important for young adults with Down syndrome. Young people with Down syndrome have

  13. Factors associated with adaptation to Klinefelter syndrome: The experience of adolescents and adults

    Science.gov (United States)

    Turriff, Amy; Levy, Howard P.; Biesecker, Barbara

    2016-01-01

    Objective The purpose of this study was to understand the impact of living with Klinefelter syndrome (XXY) as an adolescent or an adult and to examine the factors that contribute to adaptation. Methods Individuals (n = 310) aged 14–75 years with self-reported XXY were recruited from online support networks to complete a self-administered survey. Perceived consequences, perceived severity, perceived stigma, and coping were measured and evaluated as correlates of adaptation. Results The use of problem-focused coping strategies was positively correlated with adaptation (p coped with their negative appraisals was the greatest predictor of adaptation. Practice implications Interventions designed to help individuals reframe negative appraisals, to increase perceived manageability of the challenges of living with XXY, and to facilitate effective coping may improve adaptation among individuals with XXY. PMID:25239793

  14. Antioxidant treatment with N-acetylcysteine during adult respiratory distress syndrome

    DEFF Research Database (Denmark)

    Jepsen, S; Herlevsen, P; Knudsen, P

    1992-01-01

    OBJECTIVE: To examine whether the antioxidant N-acetylcysteine could ameliorate the course of the adult respiratory distress syndrome (ARDS) in man. DESIGN: Randomized, double-blind, placebo-controlled study. SETTING: Medical and surgical ICU in a regional hospital. PATIENTS: Sixty-six ICU patients...... with ARDS. INTERVENTIONS: Patients with ARDS (PaO2/FiO2 ratio less than 250 torr) were treated with either the antioxidant N-acetylcysteine 150 mg/kg as a loading dose and then 20 mg/kg/hr, or with placebo for 6 days. MEASUREMENTS AND MAIN RESULTS: No improvement could be demonstrated in the PaO2/FiO2 ratio...

  15. Fascination and isolation: a grounded theory exploration of unusual sensory experiences in adults with Asperger syndrome.

    Science.gov (United States)

    Smith, Richard S; Sharp, Jonathan

    2013-04-01

    Unusual sensory experiences are commonly seen in people with Asperger syndrome (AS). They correlate with functional impairments and cause distress. The current study investigates how these experiences have affected nine adults with AS's lives, as well as the coping strategies utilised. Semi-structured interviews were conducted using Instant Messaging software. Data were analysed using Grounded Theory. A number of inter-related categories and focused codes were identified. The categories included heightened senses, sensory stress, the stress avalanche, moderating factors, coping strategies, other people, self-acceptance, fascination, and isolation. A model was constructed as to how these categories and codes interact. How these findings link with previous research into autism spectrum disorders is discussed. Implications for services and future research are also made.

  16. Longitudinal studies of inhibin B levels in boys and young adults with Klinefelter syndrome

    DEFF Research Database (Denmark)

    Christiansen, P; Andersson, A-M; Skakkebaek, N E

    2003-01-01

    The aim of the study was to investigate the longitudinal changes of inhibin B in a group of patients with Klinefelter syndrome (KS; karyotype 47,XXY) progressing through puberty and to compare them to a group of age- and puberty-matched controls. Seven boys with nonmosaic KS (karyotype 47,XXY......) and 11 controls were followed with longitudinal serum inhibin B measurements every 3-12 months as they approached and entered puberty. None of the boys had significant bone age delay, and all entered puberty at the normal time and progressed through it at the expected time. In addition, 15 young adults...... with KS, aged 16.7-29.5 yr, were studied. We found normal levels of inhibin B in prepubertal boys with KS and controls. In patients with KS as well as controls, inhibin B increased progressively before clinical pubertal onset. However, during late puberty inhibin B levels decreased gradually to the low...

  17. Automatic metaphor processing in adults with Asperger syndrome: a metaphor interference effect task.

    Science.gov (United States)

    Hermann, Ismene; Haser, Verena; van Elst, Ludger Tebartz; Ebert, Dieter; Müller-Feldmeth, Daniel; Riedel, Andreas; Konieczny, Lars

    2013-11-01

    This paper investigates automatic processing of novel metaphors in adults with Asperger Syndrome (AS) and typically developing controls. We present an experiment combining a semantic judgment task and a recognition task. Four types of sentences were compared: Literally true high-typical sentences, literally true low-typical sentences, apt metaphors, and scrambled metaphors (literally false sentences which are not readily interpretable as metaphors). Participants were asked to make rapid decisions about the literal truth of such sentences. The results revealed that AS and control participants showed significantly slower RTs for metaphors than for scrambled metaphors and made more mistakes in apt metaphoric sentences than in scrambled metaphors. At the same time, there was higher recognition of apt metaphors compared with scrambled metaphors. The findings indicate intact automatic metaphor processing in AS and replicate previous findings on automatic metaphor processing in typically developing individuals.

  18. An Adult Case of Bartter Syndrome Type III Presenting with Proteinuria

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    Eun Jung Cha

    2016-03-01

    Full Text Available Bartter syndrome (BS I–IV is a rare autosomal recessive disorder affecting salt reabsorption in the thick ascending limb of the loop of Henle. This report highlights clinicopathological findings and genetic studies of classic BS in a 22-year-old female patient who presented with persistent mild proteinuria for 2 years. A renal biopsy demonstrated a mild to moderate increase in the mesangial cells and matrix of most glomeruli, along with marked juxtaglomerular cell hyperplasia. These findings suggested BS associated with mild IgA nephropathy. Focal tubular atrophy, interstitial fibrosis, and lymphocytic infiltration were also observed. A genetic study of the patient and her parents revealed a mutation of the CLCNKB genes. The patient was diagnosed with BS, type III. This case represents an atypical presentation of classic BS in an adult patient. Pathologic findings of renal biopsy combined with genetic analysis and clinicolaboratory findings are important in making an accurate diagnosis.

  19. The psychological impact of dependency in adults with chronic fatigue syndrome/myalgic encephalomyelitis: A qualitative exploration.

    Science.gov (United States)

    Williams, Ashley Mai; Christopher, Gary; Jenkinson, Elizabeth

    2016-04-01

    Chronic fatigue syndrome/myalgic encephalomyelitis can limit functional capacity, producing various degrees of disability and psychological distress. Semi-structured interviews explored the experiences of adults with chronic fatigue syndrome/myalgic encephalomyelitis being physically dependent on other people for help in daily life, and whether physical dependency affects their psychological well-being. Thematic analysis generated six themes: loss of independence and self-identity, an invisible illness, anxieties of today and the future, catch-22, internalised anger, and acceptance of the condition. The findings provide insight into the psychological impact of dependency. Implications for intervention include better education relating to chronic fatigue syndrome/myalgic encephalomyelitis for family members, carers, and friends; ways to communicate their needs to others who may not understand chronic fatigue syndrome/myalgic encephalomyelitis; and awareness that acceptance of the condition could improve psychological well-being.

  20. Observational cohort study of ventricular arrhythmia in adults with Marfan syndrome caused by FBN1 mutations.

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    Ali Aydin

    Full Text Available Marfan syndrome is associated with ventricular arrhythmia but risk factors including FBN1 mutation characteristics require elucidation.We performed an observational cohort study of 80 consecutive adults (30 men, 50 women aged 42±15 years with Marfan syndrome caused by FBN1 mutations. We assessed ventricular arrhythmia on baseline ambulatory electrocardiography as >10 premature ventricular complexes per hour (>10 PVC/h, as ventricular couplets (Couplet, or as non-sustained ventricular tachycardia (nsVT, and during 31±18 months of follow-up as ventricular tachycardia (VT events (VTE such as sudden cardiac death (SCD, and sustained ventricular tachycardia (sVT. We identified >10 PVC/h in 28 (35%, Couplet/nsVT in 32 (40%, and VTE in 6 patients (8%, including 3 with SCD (4%. PVC>10/h, Couplet/nsVT, and VTE exhibited increased N-terminal pro-brain natriuretic peptide serum levels(P10/h and Couplet/nsVT also related to increased indexed end-systolic LV diameters (P = .024 and P = .020, to moderate mitral valve regurgitation (P = .018 and P = .003, and to prolonged QTc intervals (P = .001 and P = .006, respectively. Moreover, VTE related to mutations in exons 24-32 (P = .021. Kaplan-Meier analysis corroborated an association of VTE with increased NT-proBNP (P<.001 and with mutations in exons 24-32 (P<.001.Marfan syndrome with causative FBN1 mutations is associated with an increased risk for arrhythmia, and affected persons may require life-long monitoring. Ventricular arrhythmia on electrocardiography, signs of myocardial dysfunction and mutations in exons 24-32 may be risk factors of VTE.

  1. Diagnostic and prognostic significance of cytogenetics in adult primary myelodysplastic syndromes.

    Science.gov (United States)

    Jotterand, M; Parlier, V

    1996-10-01

    Cytogenetic analysis has proven to be a mandatory part of the diagnosis of myelodysplastic syndromes (MDS) as well as a major indicator for predicting clinical course and outcome. This review concentrates on the cytogenetic classifications, the incidence and types of chromosome defects and the prognostic significance of the karyotype in adult primary MDS. Two cytogenetic classifications are currently used: one is based on the karyotype complexity (normal, single, double or complex defects), the other on clonal status (all metaphases normal, abnormal or admixture of normal and abnormal clones). Chromosome abnormalities are of both numerical and structural types. Aside from the 5q-syndrome, no specific clinico-cytogenetic entity has been reported. However, several distinct clinical and cellular features have been identified that correlate with the presence of specific chromosome defects such as inv(3)/t(3;3), +6, t(5;12), del(17p) and del(20q). The presence of complex defects is associated with reduced survival and a high risk of leukemic transformation. Among single defects, specific abnormalities may define distinct prognostic groups. Patients with del(5q) as a sole chromosome defect and a refractory anemia without excess of blasts have a favourable prognosis. For patients with trisomy 8 or monosomy 7 there may be distinct types of clinical evolution. Most patients with the 3q21q26 syndrome have a short survival. The presence of two chromosome defects may constitute an independent cytogenetic entity probably associated with relative poor prognosis. Karyotypic evolution generally represents a poor risk factor. The combination of cytogenetics with clinical and hematological features has proven to provide for a better prediction of patients' survival, leukemic transformation and response to treatment. Several scoring systems have been developed. They have to be improved by the study of new patients according to strict clinical and cytogenetic criteria and by the

  2. Instant coffee consumption may be associated with higher risk of metabolic syndrome in Korean adults.

    Science.gov (United States)

    Kim, Hyo-Jin; Cho, Seongbeom; Jacobs, David R; Park, Kyong

    2014-10-01

    Cumulative evidence suggests that coffee consumption may have beneficial effects on metabolic diseases; however, few previous studies have considered the types of coffee consumed and the additives used. We investigated the relationship between coffee consumption and metabolic syndrome (MetSyn) and its components. We analyzed 17,953 Korean adults, aged 19-65 years, using cross-sectional data from the Korean National Health and Nutrition Examination Survey (KNHANES, 2007-2011). Coffee consumption level, types of coffee consumed, and the additives used were assessed based on a food frequency questionnaire and 24-h recall. Demographic and lifestyle factors were assessed using self-administered questionnaires. Data on metabolic biomarkers were obtained from a health examination. Multivariable logistic regression was used to determine the odds ratios of prevalent metabolic syndrome and its components according to frequency and type of coffee consumption. We found that 76% of the subjects were habitual coffee drinkers, most of whom consumed instant coffee mix containing sugar and powder creamer. After multivariable adjustment, the odds ratios (95% CI) comparing those who consumed coffee ≥3 times/day with those who consumed coffee <1 time/week were 1.37 (1.15-1.63) for obesity, 1.33 (1.11-1.59) for abdominal obesity, 1.28 (1.09-1.51) for hypo-HDL cholesterolemia, and 1.37 (1.10-1.72) for metabolic syndrome. Instant-coffee drinkers were observed to have elevated risks of these metabolic conditions. Consumption of coffee, particularly instant coffee mix, may have harmful effects on MetSyn, perhaps partly deriving from excessive intake of sugar and powder creamer. Copyright © 2014 Elsevier Ireland Ltd. All rights reserved.

  3. The Fanconi anemia proteins FAA and FAC function in different cellular compartments to protect against cross-linking agent cytotoxicity

    NARCIS (Netherlands)

    Kruyt, FAE; Youssoufian, H

    1998-01-01

    Fanconi anemia (FA) is an autosomal recessive disease characterized by chromosomal instability, bone marrow failure, and a high risk of developing malignancies, Although the disorder is genetically heterogeneous, all FA cells are defined by their sensitivity to the apoptosis-inducing effect of

  4. Expression of the Fanconi anemia gene FAC in human cell lines : Lack of effect of oxygen tension

    NARCIS (Netherlands)

    Joenje, H; Youssoufian, H; Kruyt, FAE; dosSantos, CC; Wevrick, R; Buchwald, M

    1995-01-01

    Fanconi anemia (FA) is a recessively inherited disease characterized by bone marrow failure, congenital anomalies, chromosomal instability and hypersensitivity to crosslinking agents. Some of the cellular defects of FA defect are known to be responsive to the ambient oxygen concentration. We

  5. Metabolic syndrome and parental history of cardiovascular disease in young adults in urban Ghana.

    Science.gov (United States)

    Yeboah, Kwame; Dodam, Kennedy Konlan; Affrim, Patrick Kormla; Adu-Gyamfi, Linda; Bado, Anormah Rashid; Owusu Mensah, Richard N A; Adjei, Afua Bontu; Gyan, Ben

    2017-08-03

    Metabolic syndrome (MetS) in young adults poses significant cardiovascular diseases (CVD) risk for later years. Parental history of CVDs is known to affect the prevalence of CVD risk in adulthood. In sub-Saharan Africa, the burden of MetS in young adults and its relationship with parental CVDs is largely unknown. We studied the gender-specific prevalence of MetS and its association with parental history of diabetes, hypertension and CVDs in young adults resident in urban Ghana. In a cross-sectional design, 364 young adults aged 20-30 years were randomly recruited from students of University of Ghana. A structured questionnaire was used to collect data on demography, lifestyle, medical and parental medical history. Anthropometric indices and blood pressures were measured. Fasting blood samples were collected to measure plasma levels of glucose, lipid profile, urea and creatinine. MetS was defined according to the Joint Scientific Statement criteria. The prevalence of MetS was 12.4%, higher in females than male participants (18.4% vs 5.7, p = 0.019). Female participants had higher levels of all the components of MetS than the male participants. Compared to participants with no history of parental CVDs, participants with parental CVDs had a higher proportion of abdominal obesity. A positive history of parental CVDs was associated with increase in odds of MetS [OR (95% CI): 1.23 (1.12-3.04), p = 0.037]. In our study population, there is relatively high prevalence of MetS; higher in females compared to male participants. Parental history of CVDs was associated with MetS.

  6. Metabolic syndrome and parental history of cardiovascular disease in young adults in urban Ghana

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    Kwame Yeboah

    2017-08-01

    Full Text Available Abstract Background Metabolic syndrome (MetS in young adults poses significant cardiovascular diseases (CVD risk for later years. Parental history of CVDs is known to affect the prevalence of CVD risk in adulthood. In sub-Saharan Africa, the burden of MetS in young adults and its relationship with parental CVDs is largely unknown. We studied the gender-specific prevalence of MetS and its association with parental history of diabetes, hypertension and CVDs in young adults resident in urban Ghana. Methods In a cross-sectional design, 364 young adults aged 20–30 years were randomly recruited from students of University of Ghana. A structured questionnaire was used to collect data on demography, lifestyle, medical and parental medical history. Anthropometric indices and blood pressures were measured. Fasting blood samples were collected to measure plasma levels of glucose, lipid profile, urea and creatinine. MetS was defined according to the Joint Scientific Statement criteria. Results The prevalence of MetS was 12.4%, higher in females than male participants (18.4% vs 5.7, p = 0.019. Female participants had higher levels of all the components of MetS than the male participants. Compared to participants with no history of parental CVDs, participants with parental CVDs had a higher proportion of abdominal obesity. A positive history of parental CVDs was associated with increase in odds of MetS [OR (95% CI: 1.23 (1.12–3.04, p = 0.037]. Conclusion In our study population, there is relatively high prevalence of MetS; higher in females compared to male participants. Parental history of CVDs was associated with MetS.

  7. Effect of Genotype and Previous GH Treatment on Adiposity in Adults With Prader-Willi Syndrome.

    Science.gov (United States)

    Coupaye, Muriel; Tauber, Maithé; Cuisset, Laurence; Laurier, Virginie; Bieth, Eric; Lacorte, Jean-Marc; Oppert, Jean-Michel; Clément, Karine; Poitou, Christine

    2016-12-01

    Adults with Prader-Willi syndrome (PWS) have an increased proportion of sc fat mass compared with body mass index (BMI)-matched controls, but whether the genotype influences body composition and metabolic profile remains controversial. To assess body composition and metabolic features in adults with PWS, according to genetic subtype. In addition, the effect of previous GH treatment was assessed. Main Outcomes and Measures: Body composition (Dual Energy X-ray Absorptiometry) and metabolic parameters were compared in PWS adults (mean age, 25.5 ± 8.9 y) with deletion (n = 47) or uniparental disomy (UPD) (n = 26), taking into account GH treatment in childhood and/or adolescence. In subgroups, adipocyte size, fasting total ghrelin levels, and resting energy expenditure were measured, and hyperphagia was assessed by the Dykens Hyperphagia Questionnaire. In the whole sample, the deletion group had a higher BMI compared with UPD (40.9 ± 11.5 vs 34.6 ± 9.6 kg/m 2 , P = .02), but there was no difference between groups in percent body fat, metabolic profile, adipocyte size, resting energy expenditure, hyperphagia score, or ghrelin levels. In subjects previously treated with GH, BMI was not different between UPD and deletion groups (33.0 ± 9.7 vs 33.5 ± 11.1 kg/m 2 ). In addition, previous GH treatment was associated with decreased percent body fat and adipocyte volume only in the deletion group. A deletion genotype in adults with PWS is associated with increased BMI. GH treatment in childhood and/or adolescence limits this deleterious phenotypic effect with improved adiposity markers. This study suggests relationships between the molecular phenotype of PWS and adipose tissue development as well as sensitivity to GH.

  8. Metabolic syndrome in adolescents: definition based on regression of IDF adult cut-off points.

    Science.gov (United States)

    Benmohammed, K; Valensi, P; Balkau, B; Lezzar, A

    2016-12-01

    The objective of this study was to derive a sex- and age-specific definition of the metabolic syndrome (MetS) and its abnormalities for adolescents. This is a cross-sectional study. A total of 1100 adolescent students, aged 12-18 y, were randomly selected from schools and classrooms in the city of Constantine, Algeria; all had anthropometric measurements taken, and 989 had blood tests. Gender-specific growth curves for components of the MetS were derived, using the LMS (lambda-mu-sigma) method, and the percentiles corresponding to the thresholds of the MetS components proposed for adults by the International Diabetes Federation (IDF) were identified. The prevalence of the MetS using this new definition was 4.3% for boys and 3.7% for girls (P = 0.64). Overall, a high waist circumference was the most frequent of the syndrome components, but the frequency was much higher in girls than that in boys, 33.6% and 6.9%, respectively. In contrast, a high systolic blood pressure was seen in 26.8% of the boys and only 11.4% of the girls. The prevalence of the MetS was higher among adolescents with a body mass index (BMI) ≥95th percentile of the study population, 28.8%, against 9.8% in adolescents with a BMI between the 95th and 85th percentile and 1.8% in those with a BMI definition. For clinical practice, we propose a simplified definition for boys and girls based on regression of IDF adult cut-off points. This definition should be tested in further studies with other adolescent populations. Copyright © 2016 The Royal Society for Public Health. Published by Elsevier Ltd. All rights reserved.

  9. High prevalence of fatigue in adults with a 22q11.2 deletion syndrome.

    Science.gov (United States)

    Vergaelen, Elfi; Claes, Stephan; Kempke, Stefan; Swillen, Ann

    2017-04-01

    The 22q11.2 deletion syndrome (22q11.2DS) is a microdeletion syndrome with high phenotypic variability, including somatic disorders like congenital heart disease and psychiatric disorders such as schizophrenia, anxiety disorders, and mood disorders. Clinical observations suggest that many patients with 22q11.2DS suffer from severe fatigue. However, to the best of our knowledge, no previous study has investigated the potential association between 22q11.2DS and fatigue. Twenty-nine patients (mean age 26.8, 18-38 y) with 22q11.2DS completed the multidimensional fatigue inventory (MFI) measuring severity of fatigue. The results of the study group were compared with published population norms. In addition, cross-sectional associations between fatigue, depression (Beck Depression Inventory-BDI), and a quality of life questionnaire (WHO) in patients with 22q11.2 DS were examined. Subscales and total MFI scores were significantly higher in adults with 22q11.2DS. Approximately 80% of the study group had a total MFI score above the mean of the norms. A significant correlation between depressive symptoms and fatigue was found. Fatigue was also significantly associated with quality of life scores, specifically the general score, psychological health, and environment. This is the first report of high levels of fatigue in adults with the 22q11.2DS. Fatigue is a frequent complaint in this age group and should get the necessary attention given its association with quality of life and depression severity. Taking into account the multisystem nature of the 22q11.2DS, we recommend a systematic clinical examination to exclude underlying somatic or psychiatric causes of fatigue. © 2017 Wiley Periodicals, Inc. © 2017 Wiley Periodicals, Inc.

  10. Scintigraphic and Radiologic Findings of Pancake Kidney in a Patient with Fanconi Aplastic Anemia

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    Adem Maman

    2016-06-01

    Full Text Available In this case, we have presented that a patient has fankoni aplastic anemia with pancakes kidney in scintigraphy and ultrasonography. The patient is 10 years old and a girl who fanconi aplastic anemia had been diagnosed since three years. In physical examination her general status is good. There was not left hand thumb and she had double the distal phalanx in his right hand thumb in her inspection. We observed 2/6 sistolic murmur in cardiovascular system examınation. Other systems were natural. Abdominal ultrasonography was observed that both the kidney were ectopic location and fused view in the left lower quadrant. Similarly in Tc-99m DTPA and DMSA renal scintigraphy, both kidneys were fused and in the left hemipelvis. The right kidney function were significantly lower by comparison with the left kidney functions. Radiological imaging is necessary in patients with Fanconi aplastic anemia without present clinical symptoms. The renal ultrasonography is important for determining pancakes. In addition, static and dynamic renal scintigraphy plays an important role in revealing the functional status of the kidneys

  11. ACETAZOLAMIDE IS A MEDICINE FOR THE MEDICATED CORRECTION OF THE SLEEP APNEA AND HYPOPNEA SYNDROME AMONG CHILDREN AND ADULTS

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    O.V. Bykova

    2006-01-01

    Full Text Available Sleep apnea and hypopnea syndrome is a life bendangering sleep dis order among both adults and children. The prevalence of the sleep apnea and hypopnea syndrome both in adult and pediatric population may be evaluated only approximately, as not all of the patients, suffering from this pathology, may call some adequate complaints, which, in their turn, help diagnose the disease. For example, only obstructive sleep apnea syndrome according to the data of British epidemiologists is met among the adults at the frequency rate, which can be compared with the prevalence of the bronchial asthma. Since metabolic acidosis caused by the carbonic anhydrase inhibitor of acetazolamide stimulates the ventilation of lungs, the researchers have set forth a supposition that the application of this medicine can be efficient to treat the respiratory disturbances in sleep. There is wide application of acetazolamide for the medicated correction of sleep apnea and hypopnea syndrome of the central genesis among both adults and children. When using acetazolamide for the long term therapy of respiratory disturbances among adult patients, the main issue is the probable growth of tolerance towards the carbonic anhydrase inhibitor along with the continuous longbterm application of the medicine. In pediatry, quite on the contrary, the sleep apnea and hypopnea syndrome is usually a transit problem of the early infancy and it does not require any longbterm drug therapy, which defines specifically high perspectives of the efficient and safe application of acetazolamide for the medicated correction of respiratory disturbances in sleep precisely within this category of patients.Key words: apnea, hypopnea, sleep disorder, acetazolamide, children.

  12. Timing of muscle response to a sudden leg perturbation: comparison between adolescents and adults with Down syndrome.

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    Maria Stella Valle

    Full Text Available Movement disturbances associated with Down syndrome reduce mechanical stability, worsening the execution of important tasks such as walking and upright standing. To compensate these deficits, persons with Down syndrome increase joint stability modulating the level of activation of single muscles or producing an agonist-antagonist co-activation. Such activations are also observed when a relaxed, extended leg is suddenly released and left to oscillate passively under the influence of gravity (Wartenberg test. In this case, the Rectus femoris of adults with Down syndrome displayed peaks of activation after the onset of the first leg flexion. With the aim to verify if these muscular reactions were acquired during the development time and to find evidences useful to give them a functional explanation, we used the Wartenberg test to compare the knee joint kinematics and the surface electromyography of the Rectus femoris and Biceps femoris caput longus between adolescents and adults with Down syndrome. During the first leg flexion, adolescents and adults showed single Rectus femoris activations while, a restricted number of participants exhibited agonist-antagonist co-activations. However, regardless the pattern of activation, adults initiated the muscle activity significantly later than adolescents. Although most of the mechanical parameters and the total movement variability were similar in the two groups, the onset of the Rectus femoris activation was well correlated with the time of the minimum acceleration variability. Thus, in adolescents the maximum mechanical stability occurred short after the onset of the leg fall, while adults reached their best joint stability late during the first flexion. These results suggest that between the adolescence and adulthood, persons with Down syndrome explore a temporal window to select an appropriate timing of muscle activation to overcome their inherent mechanical instability.

  13. Metabolic syndrome in Mexican adults: results from the National Health and Nutrition Survey 2006.

    Science.gov (United States)

    Rojas, Rosalba; Aguilar-Salinas, Carlos A; Jiménez-Corona, Aída; Shamah-Levy, Teresa; Rauda, Juan; Avila-Burgos, Leticia; Villalpando, Salvador; Ponce, Eduardo Lazcano

    2010-01-01

    To examine the prevalence of metabolic syndrome (MS) and its associated risk factors in Mexican adults aged 20 years or older, using data derived from the National Health and Nutrition Survey 2006 (ENSANUT 2006). The ENSANUT 2006 was conducted between October 2005 and May 2006. Questionnaires were administered to 45 446 adult subjects aged 20 years or older who were residents from urban and rural areas. Anthropometric and blood pressure measurements were obtained from all subjects and fasting blood specimens were provided by 30% of participants. We randomly selected a sub-sample of 6 613 from which laboratory measurements were carried out for glucose, insulin, triglycerides, total cholesterol and HDL-cholesterol. For this analysis, we included only results from eight or more hours of fasting samples (n=6 021). We used individual weighted factors in the statistical analysis and considered the survey's complex sampling design to obtain variances and confidence intervals. All analyses were done using SPSS 15.0. In accordance with definitions by the National Cholesterol Education Program Adult Treatment Panel III (ATP III), the American Heart Association/National Heart, Lung and Blood Institute (AHA/NHLBI), and the International Diabetes Federation (IDF), the prevalence of MS in Mexican adults aged 20 years or older was 36.8, 41.6 and 49.8%, respectively. Women were more affected than men due to the higher prevalence of central obesity among females. Prevalence of MS increased with age and was higher among populations living in metropolitan areas, in the west-central region, and those with lower education. Regardless of the MS definition, a large proportion of Mexican adults has the condition, so preventive measures are needed to decrease the prevalence of the MS components in this population. MS can predict type 2 diabetes and cardiovascular disease, two of the main causes of death in the adult population in Mexico. The intentional search of MS components allows

  14. Parent support improves weight loss in adolescents and young adults with Down syndrome.

    Science.gov (United States)

    Curtin, Carol; Bandini, Linda G; Must, Aviva; Gleason, James; Lividini, Keith; Phillips, Sarah; Eliasziw, Misha; Maslin, Melissa; Fleming, Richard K

    2013-11-01

    To assess whether parent training in behavioral intervention, combined with a 16-session nutrition and activity education program, would improve weight loss relative to nutrition and activity education alone in adolescents and young adults with Down syndrome. Twenty-one patients with Down syndrome aged 13-26 years with a body mass index ≥ 85 th percentile were enrolled and randomized to a 6-month nutrition and activity education intervention (n = 10) or to a nutrition and activity education+behaviorial intervention (n = 11), and followed for 6 months after the active intervention period (1-year follow-up). The primary outcome measure was body weight; secondary outcomes included percentage body fat by bioelectric impedance; intake of fruits, vegetables, and energy-dense low-nutrient snack food (treats) by 3-day food record; and moderate/vigorous physical activity by accelerometry. At 6 months, mean body weight in the nutrition and activity education+behavioral intervention group was 3.2 kg lower than that in the nutrition and activity education group (95% CI, 1.0-5.5 kg; P = .005). Mean group differences were sustained at 1 year (3.6 kg; 95% CI, 1.4-5.9 kg; P = .002). At 6 months, moderate/vigorous physical activity time increased by an average of 18 minutes/day compared with baseline in the nutrition and activity education+behavioral intervention group (P = .01) and decreased by 7 minutes/day in the nutrition and activity education group (P = .30). These changes were largely maintained at 1 year, but were not statistically significant. Vegetable intake in the nutrition and activity education+behavioral intervention group exceeded that in the nutrition and activity education group by a mean of 1.6 servings at 1 year (P = .009), but not at 6 months. No between-group differences were observed for percentage body fat or consumption of fruits or treats. Parent-supported behavioral intervention appears to be a successful adjunct to a 6-month nutrition education

  15. Atenolol versus losartan in children and young adults with Marfan's syndrome.

    Science.gov (United States)

    Lacro, Ronald V; Dietz, Harry C; Sleeper, Lynn A; Yetman, Anji T; Bradley, Timothy J; Colan, Steven D; Pearson, Gail D; Selamet Tierney, E Seda; Levine, Jami C; Atz, Andrew M; Benson, D Woodrow; Braverman, Alan C; Chen, Shan; De Backer, Julie; Gelb, Bruce D; Grossfeld, Paul D; Klein, Gloria L; Lai, Wyman W; Liou, Aimee; Loeys, Bart L; Markham, Larry W; Olson, Aaron K; Paridon, Stephen M; Pemberton, Victoria L; Pierpont, Mary Ella; Pyeritz, Reed E; Radojewski, Elizabeth; Roman, Mary J; Sharkey, Angela M; Stylianou, Mario P; Wechsler, Stephanie Burns; Young, Luciana T; Mahony, Lynn

    2014-11-27

    Aortic-root dissection is the leading cause of death in Marfan's syndrome. Studies suggest that with regard to slowing aortic-root enlargement, losartan may be more effective than beta-blockers, the current standard therapy in most centers. We conducted a randomized trial comparing losartan with atenolol in children and young adults with Marfan's syndrome. The primary outcome was the rate of aortic-root enlargement, expressed as the change in the maximum aortic-root-diameter z score indexed to body-surface area (hereafter, aortic-root z score) over a 3-year period. Secondary outcomes included the rate of change in the absolute diameter of the aortic root; the rate of change in aortic regurgitation; the time to aortic dissection, aortic-root surgery, or death; somatic growth; and the incidence of adverse events. From January 2007 through February 2011, a total of 21 clinical centers enrolled 608 participants, 6 months to 25 years of age (mean [±SD] age, 11.5±6.5 years in the atenolol group and 11.0±6.2 years in the losartan group), who had an aortic-root z score greater than 3.0. The baseline-adjusted rate of change in the mean (±SE) aortic-root z score did not differ significantly between the atenolol group and the losartan group (-0.139±0.013 and -0.107±0.013 standard-deviation units per year, respectively; P=0.08). Both slopes were significantly less than zero, indicating a decrease in the aortic-root diameter relative to body-surface area with either treatment. The 3-year rates of aortic-root surgery, aortic dissection, death, and a composite of these events did not differ significantly between the two treatment groups. Among children and young adults with Marfan's syndrome who were randomly assigned to losartan or atenolol, we found no significant difference in the rate of aortic-root dilatation between the two treatment groups over a 3-year period. (Funded by the National Heart, Lung, and Blood Institute and others; ClinicalTrials.gov number, NCT00429364.).

  16. Dietary fructose and risk of metabolic syndrome in adults: Tehran Lipid and Glucose study

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    Hosseinpanah Farhad

    2011-07-01

    Full Text Available Abstract Background Studies have shown that the excessive fructose intake may induce adverse metabolic effects. There is no direct evidence from epidemiological studies to clarify the association between usual amounts of fructose intake and the metabolic syndrome. Objective The aim this study was to determine the association of fructose intake and prevalence of metabolic syndrome (MetS and its components in Tehranian adults. Methods This cross-sectional population based study was conducted on 2537 subjects (45% men aged 19-70 y, participants of the Tehran Lipid and Glucose Study (2006-2008. Dietary data were collected using a validated 168 item semi-quantitative food frequency questionnaire. Dietary fructose intake was calculated by sum of natural fructose (NF in fruits and vegetables and added fructose (AF in commercial foods. MetS was defined according to the modified NCEP ATP III for Iranian adults. Results The mean ages of men and women were 40.5 ± 13.6 and 38.6 ± 12.8 years, respectively. Mean total dietary fructose intakes were 46.5 ± 24.5 (NF: 19.6 ± 10.7 and AF: 26.9 ± 13.9 and 37.3 ± 24.2 g/d (NF: 18.6 ± 10.5 and AF: 18.7 ± 13.6 in men and women, respectively. Compared with those in the lowest quartile of fructose intakes, men and women in the highest quartile, respectively, had 33% (95% CI, 1.15-1.47 and 20% (95% CI, 1.09-1.27 higher risk of the metabolic syndrome; 39% (CI, 1.16-1.63 and 20% (CI, 1.07-1.27 higher risk of abdominal obesity; 11% (CI, 1.02-1.17 and 9% (CI, 1.02-1.14 higher risk of hypertension; and 9% (CI, 1-1.15 and 9% (1.04-1.12 higher risk of impaired fasting glucose. Conclusion Higher consumption of dietary fructose may have adverse metabolic effects.

  17. Dietary fructose and risk of metabolic syndrome in adults: Tehran Lipid and Glucose study.

    Science.gov (United States)

    Hosseini-Esfahani, Firoozeh; Bahadoran, Zahra; Mirmiran, Parvin; Hosseinpour-Niazi, Somayeh; Hosseinpanah, Farhad; Azizi, Fereidoun

    2011-07-12

    Studies have shown that the excessive fructose intake may induce adverse metabolic effects. There is no direct evidence from epidemiological studies to clarify the association between usual amounts of fructose intake and the metabolic syndrome. The aim this study was to determine the association of fructose intake and prevalence of metabolic syndrome (MetS) and its components in Tehranian adults. This cross-sectional population based study was conducted on 2537 subjects (45% men) aged 19-70 y, participants of the Tehran Lipid and Glucose Study (2006-2008). Dietary data were collected using a validated 168 item semi-quantitative food frequency questionnaire. Dietary fructose intake was calculated by sum of natural fructose (NF) in fruits and vegetables and added fructose (AF) in commercial foods. MetS was defined according to the modified NCEP ATP III for Iranian adults. The mean ages of men and women were 40.5 ± 13.6 and 38.6 ± 12.8 years, respectively. Mean total dietary fructose intakes were 46.5 ± 24.5 (NF: 19.6 ± 10.7 and AF: 26.9 ± 13.9) and 37.3 ± 24.2 g/d (NF: 18.6 ± 10.5 and AF: 18.7 ± 13.6) in men and women, respectively. Compared with those in the lowest quartile of fructose intakes, men and women in the highest quartile, respectively, had 33% (95% CI, 1.15-1.47) and 20% (95% CI, 1.09-1.27) higher risk of the metabolic syndrome; 39% (CI, 1.16-1.63) and 20% (CI, 1.07-1.27) higher risk of abdominal obesity; 11% (CI, 1.02-1.17) and 9% (CI, 1.02-1.14) higher risk of hypertension; and 9% (CI, 1-1.15) and 9% (1.04-1.12) higher risk of impaired fasting glucose. Higher consumption of dietary fructose may have adverse metabolic effects.

  18. Osteomalacia as a Late Metabolic Complication of Ifosfamide Chemotherapy in Young Adults: Illustrative Cases and Review of the Literature

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    D. N. Church

    2007-01-01

    Full Text Available Purpose. Ifosfamide is a drug commonly used in the management of sarcomas and other solid tumours. One potential toxicity of its use is renal tubular damage, which can lead to skeletal abnormalities; rickets in children and osteomalacia in adults. We aimed to characterise this rare complication in adults. Patients. Three illustrative patient cases treated in our institution are presented. All were treated for sarcoma, and received varying doses of ifosfamide during their therapy. Methods. We performed a review of the literature on the renal tubular and skeletal complications of ifosfamide in adults. Papers were identified by searches of PubMed using the terms “osteomalacia,” “nephrotoxicity,” “Fanconi syndrome,” “ifosfamide,” and “chemotherapy” for articles published between 1970 and 2006. Additional papers were identified from review of references of relevant articles. Results. There are only four case reports of skeletal toxicity secondary to ifosfamide in adults; the majority of data refer to children. Risk factors for development of renal tubular dysfunction and osteodystrophy include platinum chemotherapy, increasing cumulative ifosfamide dose, and reduced nephron mass. The natural history of ifosfamide-induced renal damage is variable, dysfunction may not become apparent until some months after treatment, and may improve or worsen with time. Discussion. Ifosfamide-induced osteomalacia is seldom described in adults. Clinicians should be vigilant for its development, as timely intervention may minimise complications.

  19. Phelan-McDermid syndrome in two adult brothers: atypical bipolar disorder as its psychopathological phenotype?

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    Verhoeven WMA

    2012-04-01

    Full Text Available Willem MA Verhoeven1,2, Jos IM Egger1,3,4, Marjolein H Willemsen5, Gert JM de Leijer6, Tjitske Kleefstra51Vincent van Gogh Institute for Psychiatry, Centre of Excellence for Neuropsychiatry, Venray, 2Erasmus University Medical Centre, Department of Psychiatry, Rotterdam, 3Donders Centre for Cognition, Radboud University Nijmegen, Nijmegen, 4Behavioural Science Institute, Radboud University Nijmegen, Nijmegen, 5Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, 6Dichterbij, Institutes for Intellectual Disabilities, Gennep, The NetherlandsAbstract: The 22q13.3 deletion, or Phelan-McDermid syndrome, is characterized by global intellectual disability, generalized hypotonia, severely delayed or absent speech associated with features of autism spectrum disorder, and minor dysmorphisms. Its behavioral phenotype comprises sleep disturbances, communication deficits, and motor perseverations. Data on psychological dysfunctions are so far not available. Previous studies have suggested that the loss of one copy of the gene SH3 and multiple ankyrin repeat domains 3 (SHANK3 is related to the neurobehavioral phenotype. Additional genes proximal to SHANK3 are also likely to play a role in the phenotype of patients with larger deletions. The present paper describes two adult brothers with an identical 2.15 Mb 22qter (22q13.32q13.33 deletion, of whom the youngest was referred for evaluation of recurrent mood changes. In both patients, magnetic resonance imaging of the brain showed hypoplasia of the vermis cerebelli. Extensive clinical examinations led to a final diagnosis of atypical bipolar disorder, of which symptoms fully remitted during treatment with a mood stabilizer. In the older brother, a similar psychopathological picture appeared to be present, although less severe and with a later onset. It is concluded that the behavioral phenotype of the 22q13.3 deletion syndrome comprises absent or delayed speech and perseverations

  20. Serum adiponectin levels in adults with Prader-Willi syndrome are independent of anthropometrical parameters and do not change with GH treatment

    DEFF Research Database (Denmark)

    Hoybye, Charlotte; Bruun, Jens M; Richelsen, Bjorn

    2004-01-01

    OBJECTIVE: Obesity and growth hormone (GH) deficiency are common in Prader-Willi syndrome (PWS) and these patients are at risk of metabolic diseases in adult life and of reduced life span. Low adiponectin values are associated with obesity and the metabolic syndrome. We therefore found it of inte......OBJECTIVE: Obesity and growth hormone (GH) deficiency are common in Prader-Willi syndrome (PWS) and these patients are at risk of metabolic diseases in adult life and of reduced life span. Low adiponectin values are associated with obesity and the metabolic syndrome. We therefore found...

  1. Psychological resilience and depressive symptoms in older adults diagnosed with post-polio syndrome.

    Science.gov (United States)

    Pierini, Diana; Stuifbergen, Alexa K

    2010-01-01

    Depression is a serious comorbidity in people with disabilities; however, few studies have focused on depressive symptoms in older adults with post-polio syndrome (PPS). This study used a resilience conceptual framework that focused on patient psychosocial strengths to investigate the relationship between psychological resilience factors (e.g., acceptance, self-efficacy, personal resources, interpersonal relationships, self-rated health, spiritual growth, stress management) and depressive symptoms in a large sample (N = 630) of people older than 65 years who were diagnosed with PPS. Forty percent of the sample scored > or = 10 on the Center for Epidemiologic Studies Short Depression Scale (CES-D10), which is a higher percentage than what has been previously cited in other studies; however, 53% of the sample had good or excellent self-rated health, suggesting psychological resilience. Depression scores were regressed on seven selected resilience factors after controlling for functional limitations. Four of the seven variables accounted for 30% of the variance in depressive symptoms, with spiritual growth representing the main predictor (beta = -.26). The implications for rehabilitation nurses in developing a patient-strengths perspective in the assessment and counseling of older adults with PPS are discussed.

  2. Associations between psychological characteristics and indicators of metabolic syndrome among Chinese adults.

    Science.gov (United States)

    Zhang, Meiwen; Tanenbaum, Hilary C; Felicitas-Perkins, Jamie Q; Pang, Zengchang; Palmer, Paula H; Duan, Haiping; Johnson, C Anderson; Xie, Bin

    2017-03-01

    Current knowledge about the relationship between psychological characteristics and metabolic syndrome (MetS) components is limited in Asian populations. The purpose of this study is to investigate linkages between physiological markers of MetS and life satisfaction, hostility, and depression in Chinese adults. Secondary analyses were conducted using cross-sectional data from parents of randomly selected middle school students participating in a pilot study in Qingdao, China. Among 440 parents who consented to participate (237 women, 203 men), 368 provided valid responses in all three categories of psychological characteristics, and only those subjects were included in these analyses. General linear models and logistic regressions were run separately by gender, controlling for covariates. Among women, life satisfaction was inversely associated with triglyceride levels (p = .04), LDL-C (p characteristics among men. Among women, hostility was positively associated with triglyceride level (p = .04) and risk of hypertriglyceridemia (OR[2.12], p characteristics and physiological indicators of MetS among Chinese adults, although there may be important differences between genders.

  3. Clinical correlation of prostatic lithiasis with chronic pelvic pain syndromes in young adults.

    Science.gov (United States)

    Geramoutsos, Ioannis; Gyftopoulos, Kostis; Perimenis, Petros; Thanou, Vasiliki; Liagka, Dimitra; Siamblis, Dimitrios; Barbalias, George

    2004-03-01

    To investigate the incidence, morphology and clinical presentation of prostatic calculi in a selected population of young adults and to examine any possible correlation with chronic prostatitis/chronic pelvic pain syndromes (CP/CPPS). A population of 1374 young adults was screened with ultrasound imaging of the prostate and 101 cases with prostatic lithiasis were selected. Patients were divided in two groups, according to the type of prostatic calculi (type A: small, multiple or type B: larger, coarser calculi). Further evaluation included history and physical examination, recording of lower urinary tract symptoms and the Meares-Stamey test. Calculi were type A in 71.3% and type B in 28.7% of cases. Localization (central/periurethral) was not correlated with other parameters. Age was closely related to calculus burden ( p =0.034 ). Type B calculi were more often associated with symptoms and chronic prostatitis/CPPS (chi(2)-test, p=0.007 and 0.018 respectively). Small, multiple calcifications are a normal, often incidental ultrasonographic finding in the prostate and represent a result of age rather than a pathologic entity. However, larger prostatic calculi may be related to underlying inflammation and require further evaluation and possibly, treatment.

  4. Exploring the Adult Life of Men and Women With Fragile X Syndrome: Results From a National Survey

    Science.gov (United States)

    Hartley, Sigan L.; Seltzer, Marsha Mailick; Raspa, Melissa; Olmstead, Murrey; Bishop, Ellen; Bailey, Donald B.

    2011-01-01

    Using data from a national family survey, the authors describe the adult lives (i.e., residence, employment, level of assistance needed with everyday life, friendships, and leisure activities) of 328 adults with the full mutation of the FMR1 gene and identify characteristics related to independence in these domains. Level of functional skills was the strongest predictor of independence in adult life for men, whereas ability to interact appropriately was the strongest predictor for women. Co-occurring mental health conditions influenced independence in adult life for men and women, in particular, autism spectrum disorders for men and affect problems for women. Services for adults with fragile X syndrome should not only target functional skills but interpersonal skills and co-occurring mental health conditions. PMID:21291308

  5. Local Information Processing in Adults with High Functioning Autism and Asperger Syndrome: The Usefulness of Neuropsychological Tests and Self-Reports

    Science.gov (United States)

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

    2011-01-01

    Local information processing in 42 adults with high functioning autism, 41 adults with Asperger syndrome and 41 neurotypical adults was examined. Contrary to our expectations, the disorder groups did not outperform the neurotypical group in the neuropsychological measures of local information processing. In line with our hypotheses, the…

  6. Hypoglycemic and antioxidant effect of Tai chi exercise training in older adults with metabolic syndrome

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    Mendoza-Núñez VM

    2018-04-01

    Full Text Available Víctor Manuel Mendoza-Núñez,1 Taide Laurita Arista-Ugalde,1 Juana Rosado-Pérez,1 Mirna Ruiz-Ramos,1 Edelmiro Santiago-Osorio2 1Research Unit on Gerontology, FES Zaragoza, National Autonomous University of Mexico, Mexico City, Mexico; 2Hematopoiesis and Leukemia Laboratory, Research Unit on Cell Differentiation and Cancer, FES Zaragoza, National Autonomous University of Mexico, Mexico City, Mexico Introduction: The antioxidant and anti-inflammatory effects of Tai chi (TC exercise training in healthy older adults has been demonstrated. However, there are no studies on this effect in older adults with metabolic syndrome (MetS.Purpose: The aim of this study was to determine the effect of TC exercise on oxidative stress and inflammatory markers in older adults with MetS.Methods: A quasi-experimental study was carried out with a sample of 110 older sedentary volunteers with clinical diagnoses of MetS: (i a control group, n = 50, of individuals who do not participate in physical exercise, of which 37 fulfilled the entire study protocol, and (ii an experimental group, n = 60, of subjects enrolled in a TC exercise training program (eight-form easy, 5 days a week for 6 months, in sessions of 50 min, under the supervision of a qualified instructor, of which 48 fulfilled the entire study protocol. We measured in both groups (pre- and post-intervention the following cardiovascular parameters: resting heart rate (RHR, diastolic and systolic blood pressure (DBP and SBP, mean arterial pressure (MAP, RHR-SBP product, RHR-MAP product; glycosylated hemoglobin (HbA1c; oxidative stress markers (superoxide dismutase, total antioxidant status, thiobarbituric acid reacting substances, and oxidative stress score; and inflammation markers (TNF-α, IL-6, IL-8, and IL-10.Results: A statistically significant decrease in HbA1c concentration was observed in the TC group compared with the control group (p < 0.05. This group also showed a statistically significant increase

  7. Grains, vegetables, and fish dietary pattern is inversely associated with the risk of metabolic syndrome in South korean adults.

    Science.gov (United States)

    Kim, Jihye; Jo, Inho

    2011-08-01

    Dietary patterns are critical in the prevention and management of chronic diseases. We examined the association between habitual dietary patterns and the risk of metabolic syndrome in South Korean adults. The study sample was composed of 9,850 Korean adults (aged ≥19 years) who participated in the second and third Korean National Health and Nutrition Examination Survey. Dietary data were assessed by the 24-hour recall method. Metabolic syndrome was defined by the joint of interim statement of the International Diabetes Federation and the American Heart Association/National Heart, Lung, and Blood Institute. Four dietary patterns were derived using factor analysis (white rice and kimchi pattern; meat and alcohol pattern; high fat, sweets, and coffee pattern; and grains, vegetables, and fish pattern). Each dietary pattern explained 8.6%, 6.7%, 5.7%, and 5.7% of the variation in food intakes, respectively. The meat and alcohol pattern was adversely associated with hypertriglyceridemia (P for trend 0.01) and elevated blood pressure (P for trend 0.01) after adjustments for potential risk factors of metabolic syndrome such as age, sex, body mass index, energy intake, alcohol intake, smoking status, and physical activity. In contrast, the grains, vegetables, and fish pattern was associated with lower risk of hypertriglyceridemia (P for trend 0.0002) and was also inversely associated with the risk of metabolic syndrome after adjusting for risk factors of the metabolic syndrome (P for trend 0.02). Our study suggests that a specific Korean dietary pattern that includes grains, vegetables, and fish may be associated with lower risk of metabolic syndrome in South Korean adults. Copyright © 2011 American Dietetic Association. Published by Elsevier Inc. All rights reserved.

  8. Association between Milk Consumption and Metabolic Syndrome among Korean Adults: Results from the Health Examinees Study

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    Sangah Shin

    2017-10-01

    Full Text Available It has been suggested that a greater dairy consumption, particularly of milk, may have contributed in lowering the prevalence of metabolic syndrome (MetS. A cross-sectional analysis was conducted to examine the association between milk consumption and MetS, and its components among Korean adults aged 40–69. A total of 130,420 subjects (43,682 men and 86,738 women from the Health Examinees Study were selected for the final analysis. Milk consumption was estimated using a validated 106-item food frequency questionnaire. MetS was defined using the National Cholesterol Education Program, Adult Treatment Panel III (NCEP III. Logistic regression analyses were performed to calculate the odds ratios (ORs and 95% confidence intervals (CIs between milk consumption and MetS after adjusting for potential confounders. In this study, the average milk consumption was 77.9 g/day, with the overall prevalence of MetS being 26.1% (29.1% in men and 24.6% in women. We found that the prevalence of the MetS was significantly lower in subjects with higher milk consumption (p < 0.0001. Adjusted OR for MetS was significantly lower in the highest milk consumption category (≥1 serving/day among men; ≥2 serving/day among women than those in the lowest milk consumption category (OR: 0.92 95%CI: 0.86–0.99, p trend = 0.0160 in men; OR: 0.68, 95%CI: 0.60–0.76, p trend < 0.0001 in women. Overall, higher milk consumption was inversely associated with the MetS components: elevated waist circumference, elevated triglyceride, and reduced high-density lipoprotein cholesterol (HDL-C (all p trend < 0.05. This study concludes that higher milk consumption is associated with the lower odds of MetS in Korean adults.

  9. Blood pressure levels and body mass index in Brazilian adults with Down syndrome

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    Felipe Pucci

    Full Text Available ABSTRACT CONTEXT AND OBJECTIVE: Increased life expectancy among people with Down syndrome (DS has introduced new environmental factors that may affect blood pressure (BP and/or lead to obesity in this population. The aim here was to investigate BP levels and body mass index (BMI in adults with DS, correlating these data with the patients' sex and age. DESIGN AND SETTING: Analytical cross-sectional observational study conducted in special schools in Curitiba (PR, Brazil. METHODS: 97 adult patients were included. BP was measured in accordance with the established guidelines. BMI was calculated by dividing the weight by the height squared (kg/m2. RESULTS: Sex had no influence on BMI; nor did systolic BP (SBP or diastolic BP (DBP. The age range was from 18 to 56 years. No correlation was observed between increasing age and greater BMI or BP. Eighty-six individuals (88.7% presented normal BP, eleven (11.3% prehypertension and none hypertension. Twenty patients (20.4% presented BP lower than 90 × 60 mmHg. BMI ranged from 18 to 48 kg/m2 (mean of 28.8 ± 3.92 kg/m2: 21.9% had normal weight; 40.7% were overweight; and 25.3% had obesity class I, 9.9% class II and 2.2% class III. Higher BMI was associated with significantly greater SBP and DBP (P = 0.0175 and P = 0.0015. CONCLUSION: Sex and age did not influence SBP, DBP or BMI in Brazilian adults with DS. Higher BMI was associated with greater BP (both systolic and diastolic.

  10. Prevalence and Phenotype of Sleep Disorders in 60 Adults With Prader-Willi Syndrome.

    Science.gov (United States)

    Ghergan, Adelina; Coupaye, Muriel; Leu-Semenescu, Smaranda; Attali, Valérie; Oppert, Jean-Michel; Arnulf, Isabelle; Poitou, Christine; Redolfi, Stefania

    2017-12-01

    Excessive sleepiness is a common symptom in Prader-Willi syndrome (PWS), and it negatively impacts the quality of life. Obstructive sleep apnea and narcolepsy phenotypes have been reported in PWS. We characterized sleep disorders in a large cohort of adults with PWS. All consecutive patients with genetically confirmed PWS unselected for sleep-related symptoms, underwent a clinical interview, polysomnography, and multiple sleep latency tests (MSLT, n = 60), followed by long-term (24 hours) polysomnography (n = 22/60). Among 60 adults evaluated (57% female, aged 25 ± 10 years, body mass index: 39 ± 12 kg/m2), 67% reported excessive sleepiness. According to the sleep study results, 43% had a previously unrecognized hypersomnia disorder, 15% had an isolated sleep breathing disorder, 12% had combined hypersomnia disorder and untreated breathing sleep disorder, and only 30% had normal sleep. Isolated hypersomnia disorder included narcolepsy in 35% (type 1, n = 1, and type 2, n = 8), hypersomnia in 12% (total sleep time >11 hours, n = 2, and MSLT sleep onset in REM periods and MSLT >8 minutes, n = 10, and 8 minutes Sleep breathing disorders, isolated and combined, included obstructive sleep apnea (n = 14, already treated in seven), sleep hypoxemia (n = 1) and previously undiagnosed hypoventilation (n = 5). Modafinil was taken by 16 patients (well tolerated in 10), resulting in improved sleepiness over a mean 5-year follow-up period. Sleepiness affects more than half of adult patients with PWS, with a variety of hypersomnia disorder (narcolepsy, hypersomnia, and borderline phenotypes) and breathing sleep disorders. Earlier diagnosis and management of sleep disorders may improve sleepiness, cognition, and behavior in these patients. © Sleep Research Society 2017. Published by Oxford University Press [on behalf of the Sleep Research Society]. All rights reserved. For permissions, please email: journals.permissions@oup.com

  11. Comparing the predictive abilities of different metabolic syndrome definitions for acute coronary syndrome: a case-control study in Chinese adults.

    Science.gov (United States)

    Wang, Qun; Chair, Sek Ying; Wong, Eliza Mi Ling; Li, Xiaomei; Liu, Meili; Zhang, Yulian

    2014-09-01

    Different institutions have proposed various definitions for metabolic syndrome, which is a combination of risk factors for cardiovascular diseases (CVD). This study aimed to compare the feasibilities and abilities of different metabolic syndrome definitions in predicting acute coronary syndrome (ACS) in Chinese adults. A case-control study was designed. This study recruited 162 newly diagnosed ACS patients (the case group) and 162 non-ACS patients (the control group) according to the study criteria. Metabolic syndrome definitions proposed by the National Cholesterol Education Program Adult Treatment Panel III (NCEP ATP III), International Diabetes Federation (IDF), American Heart Association/National Heart, Lung, and Blood Institute (AHA/NHLBI), Chinese Diabetes Society (CDS), and Joint Committee for Developing Chinese Guidelines on Dyslipidemia in Adults (JCDCG) were studied. After collecting demographic and clinical data, sensitivity, specificity, positive and negative predictive values (PPV, NPV), the likelihood ratio of a positive test and a negative test (LR+, LR-), odds ratios (OR), diagnostic accuracy, and the Youden index (YI) were compared. Of the 324 participants, the mean age was 59.1 ± 10.5 years, and 56.8% were males. The AHA/NHLBI and IDF definitions had better sensitivity (53.09%, 48.77%). The CDS definition was more specific (76.54%), but less sensitive (25.93%). The IDF definition performed better in PPV (53.74%), NPV (53.11%), LR+ (1.15) and LR- (0.89), OR (1.32), and diagnostic accuracy (53.4%). The IDF definition also provided optimal cutoff points with the biggest YI. The IDF definition performed better in detecting the onsets of nonfatal ACS in the northwestern Chinese population. All studied definitions were feasible in Chinese clinical settings.

  12. Prevalence and determinants of metabolic syndrome among adults in a rural area of Northwest China.

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    Yaling Zhao

    Full Text Available To evaluate the prevalence and determinants of metabolic syndrome (MetS among adults in a rural area of Northwest China.A population-based cross-sectional study was conducted in 2010 among adults aged 18 to 80 years in rural areas of Hanzhong, in Northwest China. Interview, physical and clinical examinations, and fasting blood glucose and lipid measurements were completed for 2990 adults. The definitions of MetS proposed by the Third Report of the National Cholesterol Education Program Expert Panel (Adults Treatment Panel III, ATP III and the International Diabetes Federation (IDF, and the modified ATP III definition for Asian population were used and compared. Proportions were adjusted for age and sex.The prevalence of MetS was 7.9%, 10.8% and 15.1% according to ATP III, IDF and modified ATP III criteria, respectively. Agreement between ATP III and IDF criteria and that between ATP III and modified ATP III criteria were moderate (Kappa = 0.52 and 0.64, respectively, whereas agreement between IDF and modified ATP III criteria was good (Kappa = 0.83. The prevalence of MetS increased with age, and was higher in women than in men (10.4% versus 5.4%, 13.6% versus 8.1% and 17.4% versus 12.8%, according to ATP III, IDF and modified ATP III criteria, respectively. The most common MetS component was high blood pressure. Having family history of hypertension, lack of physical activity, high economical level, overweight and obesity were positively associated with MetS.MetS is prevalent among rural adults in Northwest China and high blood pressure is the most common MetS component. Prevention and treatment of hypertension and MetS should be a public health priority to reduce cardiovascular diseases in rural areas of Northwest China. More attention should be given to the elderly, women, people with family history of hypertension and obese people who are at high risk of MetS.

  13. Prevalence and determinants of metabolic syndrome among adults in a rural area of Northwest China.

    Science.gov (United States)

    Zhao, Yaling; Yan, Hong; Yang, Ruihai; Li, Qiang; Dang, Shaonong; Wang, Yuying

    2014-01-01

    To evaluate the prevalence and determinants of metabolic syndrome (MetS) among adults in a rural area of Northwest China. A population-based cross-sectional study was conducted in 2010 among adults aged 18 to 80 years in rural areas of Hanzhong, in Northwest China. Interview, physical and clinical examinations, and fasting blood glucose and lipid measurements were completed for 2990 adults. The definitions of MetS proposed by the Third Report of the National Cholesterol Education Program Expert Panel (Adults Treatment Panel III, ATP III) and the International Diabetes Federation (IDF), and the modified ATP III definition for Asian population were used and compared. Proportions were adjusted for age and sex. The prevalence of MetS was 7.9%, 10.8% and 15.1% according to ATP III, IDF and modified ATP III criteria, respectively. Agreement between ATP III and IDF criteria and that between ATP III and modified ATP III criteria were moderate (Kappa = 0.52 and 0.64, respectively), whereas agreement between IDF and modified ATP III criteria was good (Kappa = 0.83). The prevalence of MetS increased with age, and was higher in women than in men (10.4% versus 5.4%, 13.6% versus 8.1% and 17.4% versus 12.8%, according to ATP III, IDF and modified ATP III criteria, respectively). The most common MetS component was high blood pressure. Having family history of hypertension, lack of physical activity, high economical level, overweight and obesity were positively associated with MetS. MetS is prevalent among rural adults in Northwest China and high blood pressure is the most common MetS component. Prevention and treatment of hypertension and MetS should be a public health priority to reduce cardiovascular diseases in rural areas of Northwest China. More attention should be given to the elderly, women, people with family history of hypertension and obese people who are at high risk of MetS.

  14. Serum concentrations of vitamin D and parathyroid hormone and prevalent metabolic syndrome among adults in the United States.

    Science.gov (United States)

    Ford, Earl S; Zhao, Guixiang; Li, Chaoyang; Pearson, William S

    2009-12-01

    Some reports suggest that concentrations of vitamin D are inversely, whereas concentrations of parathyroid hormone (PTH) are directly, associated with prevalent metabolic syndrome. Because of lingering uncertainty about these associations, we examined the cross-sectional associations between serum concentrations of 25-hydroxyvitamin D(3) and PTH with metabolic syndrome in a representative sample of adults in the US. We used data from 1705 participants in the 2005-2006 National Health and Nutrition Examination Survey. Vitamin D was measured by radioimmunoassay, whereas PTH was measured using an electrochemiluminescent process. The mean concentration of vitamin D for participants with and without metabolic syndrome was 20.3 and 22.9 ng/mL, respectively (P = 0.001). The mean concentration of PTH for participants with and without metabolic syndrome was 44.5 and 41.0 pg/mL, respectively (P = 0.002). The age-adjusted mean concentrations of vitamin D (P for linear trend syndrome increased. After adjusting for age, gender, physical activity, urinary albumin creatinine ratio, and concentrations of C-reactive protein and calcium, concentrations in the highest quintile of vitamin D [prevalence ratio (PR) = 0.59; 95% confidence interval (CI) 0.44-0.79], but not PTH (PR = 1.18; 95% CI 0.97-1.43), was significantly associated with prevalent metabolic syndrome. Concentrations of vitamin D, but not PTH, were significantly associated with prevalent metabolic syndrome among US adults. Published 2009. This article is a US Government work and is in the public domain in the USA.

  15. Non-alcoholic fatty liver disease and metabolic syndrome in Brazilian middle-aged and older adults

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    Mauro Karnikowski

    Full Text Available CONTEXT AND OBJECTIVES: Non-alcoholic fatty liver disease (NAFLD is a complex clinicopathological entity characterized by diffuse or focal fat accumulation in the hepatic parenchyma of patients who deny abusive alcohol consumption. This study aimed to assess idiopathic NAFLD in community-dwelling, middle-aged and older adults living in the Brazilian Federal District. Associations between NAFLD and components of metabolic syndrome and the whole syndrome were investigated. DESIGN AND SETTINGS: This was a cross-sectional study on 139 subjects aged 55 years or older. METHODS: NAFLD was diagnosed by means of clinical procedures, to exclude subjects with signs of liver disorders, abusive alcohol consumption and influence from hepatotoxic drugs. Phenotypes were graded based on ultrasound examination. Metabolic syndrome was defined using the NCEP ATP III criteria. Laboratory tests were performed to assist clinical examinations and define the syndrome. RESULTS NAFLD was present in 35.2% of the subjects. Taken together, the two most intense phenotypes correlated with increased serum fasting glucose, triglyceride and VLDL cholesterol levels. Metabolic syndrome was diagnosed in 25.9% of the sample. In addition to associating NAFLD with specific traits of metabolic syndrome, non-parametric analysis confirmed the existence of a relationship (p < 0.05 between the steatotic manifestation and the syndromic condition. CONCLUSION: Compared with the literature, this study reveals greater frequency of idiopathic NAFLD among Brazilian middle-aged and older adults than is described elsewhere. The findings also suggest that impaired glycemic metabolism coupled with increased fat delivery and/or sustained endogenous biosynthesis is the most likely physiopathogenic mechanisms underlying the onset of NAFLD in this population.

  16. Reversible Hypokalemia and Bartter-Like Syndrome during Prolonged Systemic Therapy with Colistimethate Sodium in an Adult Patient.

    Science.gov (United States)

    Kamal Eldin, Tarek; Tosone, Grazia; Capuano, Alfredo; Orlando, Raffaele

    2017-12-01

    We present the case of a 58-year-old woman who developed hypokalaemia and metabolic alkalosis 2 weeks after therapy with colistimethate sodium for the treatment of chronic lower limb ulcer infection by extensively drug-resistant (XDR) Pseudomonas aeruginosa. The metabolic changes observed resembled Bartter syndrome, a group of congenital disorders affecting the distal segments of the renal tubules. The metabolic abnormalities reversed spontaneously 6 days after drug discontinuation. Acquired forms of Bartter syndrome have been reported during courses of antibiotic therapy; however, to our knowledge, this is the first documented case associated with colistimethate therapy in an adult.

  17. Prevalence of symptoms of bladder pain syndrome/interstitial cystitis among adult females in the United States.

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    Berry, Sandra H; Elliott, Marc N; Suttorp, Marika; Bogart, Laura M; Stoto, Michael A; Eggers, Paul; Nyberg, Leroy; Clemens, J Quentin

    2011-08-01

    Bladder pain syndrome/interstitial cystitis is a poorly understood condition that can cause serious disability. We provide the first population based symptom prevalence estimate to our knowledge among United States adult females. We developed and validated 2 case definitions to identify bladder pain syndrome/interstitial cystitis symptoms. Beginning in August 2007 we telephoned United States households, seeking adult women with bladder symptoms or a bladder pain syndrome/interstitial cystitis diagnosis. Second stage screening identified those subjects who met case definition criteria. Each completed a 60-minute interview on the severity and impact of bladder symptoms, health care seeking and demographics. Data collection ended in April 2009. Using population and nonresponse weights we calculated prevalence estimates based on definitions spanning a range of sensitivity and specificity. We used United States Census counts to estimate the number of affected women in 2006. The random sample included 146,231 households, of which 131,691 included an adult female. Of these households 32,474 reported an adult female with bladder symptoms or diagnosis, of which 12,752 completed the questionnaire. Based on the high sensitivity definition 6.53% (95% CI 6.28, 6.79) of women met symptom criteria. Based on the high specificity definition 2.70% (95% CI 2.53, 2.86) of women met the criteria. These percentages translated into 3.3 to 7.9 million United States women 18 years old or older with bladder pain syndrome/interstitial cystitis symptoms. Symptom severity and impact were comparable to those of adult women with established diagnoses. However, only 9.7% of the women reported being assigned a bladder pain syndrome/interstitial cystitis diagnosis. Bladder pain syndrome/interstitial cystitis symptoms are widespread among United States women and associated with considerable disability. These results suggest bladder pain syndrome/interstitial cystitis may be underdiagnosed. Copyright

  18. MYO5B mutations in patients with microvillus inclusion disease presenting with transient renal Fanconi syndrome

    NARCIS (Netherlands)

    Golachowska, Magdalena R.; van Dael, Carin M. L.; Keuning, Hilda; Karrenbeld, Arend; Hoekstra, Dick; Gijsbers, Carolien F. M.; Benninga, Marc A.; Rings, Edmond H. H. M.; van IJzendoorn, Sven C. D.

    Background and Objective: Microvillus inclusion disease (MVID) is a rare congenital enteropathy associated with brush border atrophy and reduced expression of enzymes at the enterocytes' apical surface. MVID is associated with mutations in the MYO5B gene, which is expressed in all epithelial

  19. Clinical heterogeneity and chromosome breakage in Iranian patients suspicious of Fanconi anemia

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    Ghasemi Firoozabadi S

    2007-10-01

    Full Text Available Background: Fanconi anemia (FA is a rare autosomal recessive disorder characterized by short stature, skeletal anomalies, increased incidence of solid tumors and leukemia, and bone marrow failure (aplastic anemia. FA has been reported in all races and ethnic groups and affects men and women in an equal proportion. The frequency of FA has been estimated at approximately 1 per 360,000 live births. In some populations, including Ashkenazi Jews, Turks, Saudi Arabians and Iranians, this frequency appears to be higher, probably as a result of the founder effect and consanguineous marriage. Because of extensive genetic and clinical heterogeneity (the age of onset, clinical manifestations and survival, diagnosis of FA on the basis of clinical data alone is unreliable and its molecular diagnosis is difficult. The diagnosis of FA exploits the hypersensitivity of FA lymphocytes and fibroblasts to bifunctional alkylating agents such as mitomycin C (MMC, diepoxybutane (DEB and nitrogen mustard and differentiates it from idiopathic aplastic anemia. In this study, in addition to the patients' clinical profiles, a cytogenetic test using MMC was implemented for an accurate diagnosis of Fanconi anemia.Methods: In this study, the lymphocytes of 20 patients referred for FA, and those of their normal sex-matched controls, were treated with three different concentrations of mitomycin C (20, 30, 40 ng/ml. Slides were prepared and solid stained. In order to determine the number and kind of chromosome abnormalities, 50 metaphase spreads from each culture were analyzed. Clinical information was obtained from patient files.Results: Five patients manifested increased chromosome breakage with MMC, confirming the FA diagnosis. Two different concentrations of MMC (30, 40 ng/ml were most effective.Conclusion: The chromosomal breakage test is important for the accurate diagnosis of Fanconi anemia. DNA crosslinking agents used to treat idiopathic aplastic anemia may be

  20. Effects of percutaneous tibial nerve stimulation on adult patients with overactive bladder syndrome: a systematic review.

    Science.gov (United States)

    Moossdorff-Steinhauser, Heidi F A; Berghmans, Bary

    2013-03-01

    To assess the effectiveness of percutaneous tibial nerve stimulation (PTNS) on adult patients with overactive bladder syndrome, using a systematic review of randomized controlled trials (RCTs), clinical controlled trials (CCTs), and prospective observational cohort studies. A computer-aided literature search was performed in: PubMed, EMBASE and CENTRAL (2000 to November 15, 2011) to identify RCTs, CCTs, and prospective observational cohort studies. The study had to investigate the effect of PTNS on overactive bladder syndrome. The methodological quality of each study was assessed and a qualitative analysis was performed to establish the levels of evidence. Four RCTs and six prospective observational cohort studies were identified. There is strong evidence for the efficacy of PTNS versus a sham treatment. There is limited evidence that the use of PTNS and tolterodine ER is equally effective. No additional effect of a combination of Stoller afferent nerve stimulation (SANS) and anticholinergic medication compared to SANS alone. Most cohort studies suggested decreased frequency and improvement of incontinence and nocturia. However, the level of evidence was insufficient to make any firm conclusions. Because the total duration of all included trials varied between 6 and 12 weeks, so far there is little information on treatment periods. PTNS is efficacious for frequency and urgency urinary incontinence. More high quality studies are needed to improve the level of evidence concerning the efficacy of PTNS with regard to urgency and nocturia, to specify patient selection criteria, optimal treatment modalities and long-term effects as well as the effectiveness in more pragmatic trials. Copyright © 2012 Wiley Periodicals, Inc.