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Sample records for hunter syndrome patients

  1. Neurogenic bladder in Hunter's syndrome.

    Science.gov (United States)

    Koyama, K; Moda, Y; Sone, A; Tanaka, H; Hino, Y

    1994-01-01

    We encountered a rare patient with Hunter's syndrome who exhibited urinary retention as a result of a neurogenic bladder, uninhibited detrusor contractions, and detrusor-sphincter dyssynergia. Neurological findings were consistent with cervical myelopathy and cervical MR imaging showed very narrow segments at the cord level C2-4. We speculate that this Hunter's syndrome patient has cervical myelopathy and that this neurological dysfunction causes the neurogenic bladder. PMID:8014981

  2. Anterior Hypopituitarism and Treatment Response in Hunter Syndrome: A Comparison of Two Patients

    Science.gov (United States)

    Luca, Paola; Wei, Xing-Chang; Khan, Aneal

    2016-01-01

    Hypopituitarism is a clinically important diagnosis and has not previously been reported in Hunter syndrome. We contrast two cases with anatomic pituitary anomalies: one with anterior panhypopituitarism and the other with intact pituitary function. Patient 1, a 10-year-old boy with Hunter syndrome, was evaluated for poor growth and an ectopic posterior pituitary gland. Endocrine testing revealed growth hormone (GH) deficiency, secondary adrenal insufficiency, and tertiary hypothyroidism. An improvement in growth velocity with hormone replacement (GH, thyroxine, and corticosteroid) was seen; however, final adult height remained compromised. Patient 2, a 13-year-old male with Hunter syndrome, was evaluated for growth failure. He had a large empty sella turcica with posteriorly displaced pituitary. Functional endocrine testing was normal and a trial of GH-treatment yielded no significant effect. Panhypopituitarism associated with pituitary anomalies has not been previously reported in Hunter syndrome and was an incidental finding of significant clinical importance. In the setting of documented anterior hypopituitarism, while hormone replacement improved growth velocity, final height remained impaired. In patient 2 with equivocal GH-testing results, treatment had no effect on linear growth. These cases highlight the importance of careful clinical assessment in Hunter syndrome and that judicious hormone replacement may be indicated in individual cases. PMID:28018694

  3. Anterior Hypopituitarism and Treatment Response in Hunter Syndrome: A Comparison of Two Patients

    Directory of Open Access Journals (Sweden)

    Munier A. Nour

    2016-01-01

    Full Text Available Hypopituitarism is a clinically important diagnosis and has not previously been reported in Hunter syndrome. We contrast two cases with anatomic pituitary anomalies: one with anterior panhypopituitarism and the other with intact pituitary function. Patient 1, a 10-year-old boy with Hunter syndrome, was evaluated for poor growth and an ectopic posterior pituitary gland. Endocrine testing revealed growth hormone (GH deficiency, secondary adrenal insufficiency, and tertiary hypothyroidism. An improvement in growth velocity with hormone replacement (GH, thyroxine, and corticosteroid was seen; however, final adult height remained compromised. Patient 2, a 13-year-old male with Hunter syndrome, was evaluated for growth failure. He had a large empty sella turcica with posteriorly displaced pituitary. Functional endocrine testing was normal and a trial of GH-treatment yielded no significant effect. Panhypopituitarism associated with pituitary anomalies has not been previously reported in Hunter syndrome and was an incidental finding of significant clinical importance. In the setting of documented anterior hypopituitarism, while hormone replacement improved growth velocity, final height remained impaired. In patient 2 with equivocal GH-testing results, treatment had no effect on linear growth. These cases highlight the importance of careful clinical assessment in Hunter syndrome and that judicious hormone replacement may be indicated in individual cases.

  4. Orthopedic manifestations in patients with muco­polysaccharidosis type II (Hunter syndrome enrolled in the Hunter Outcome Survey

    Directory of Open Access Journals (Sweden)

    Bianca Link

    2010-07-01

    Full Text Available Mucopolysaccharidosis type II (MPS II or Hunter syndrome is a rare, inherited disorder caused by deficiency of the lysosomal enzyme iduronate-2-sulfatase. As a result of this deficiency, glycosaminoglycans accumulate in lysosomes in many tissues, leading to progressive multisystemic disease. The cardiopulmonary and neurological problems associated with MPS II have received considerable attention. Orthopedic manifestations are common but not as well characterized. This study aimed to characterize the prevalence and severity of orthopedic manifestations of MPS II and to determine the relationship of these signs and symptoms with cardiovascular, pulmonary and central nervous system involvement. Orthopedic manifestations of MPS II were studied using cross-sectional data from the Hunter Outcome Survey (HOS. The HOS is a global, physician-led, multicenter observational database that collects information on the natural history of MPS II and the long-term safety and effectiveness of enzyme replacement therapy. As of January 2009, the HOS contained baseline data on joint range of motion in 124 males with MPS II. In total, 79% of patients had skeletal manifestations (median onset, 3.5 years and 25% had abnormal gait (median onset, 5.4 years. Joint range of motion was restricted for all joints assessed (elbow, shoulder, hip, knee and ankle. Extension was the most severely affected movement: the exception to this was the shoulder. Surgery for orthopedic problems was rare. The presence of orthopedic manifestations was associated with the presence of central nervous system and pulmonary involvement, but not so clearly with cardiovascular involvement. Orthopedic interventions should be considered on an individual-patient basis. Although some orthopedic manifestations associated with MPS II may be managed routinely, a good knowledge of other concurrent organ system involvement is essential. A multidisciplinary approach is required.

  5. Detection of a new mutation (T1140C) in a patient with Hunter syndrome from Guangdong,China

    Institute of Scientific and Technical Information of China (English)

    GUO Yibin; DU Chuanshu; WANG Jingjing

    2007-01-01

    This study identified mutations of the idumate-2-suffatase (IDS) gene in a patient with Hunter syndrome,and established a basis for the diagnosis of the prenatal gene of Hunter syndrome.Urine glyeosaminoglycan (GAG) assay was used to make the preliminary diagnosis of mucopolysaccharidosis type H.Polymerase chain reaction (PCR) from dried blood spots and DNA sequencing were applied to analyze hotspot mutations in exons 9,3 and 8 of the IDS gene in the proband and his parents.A new missense mutation (T1140C) in exon 8 of the IDS gene was found by using DNA sequencing.This mutation caused a substitution of codon 339 from CTA (leucine) to CCA (praline).The patient is a hemizygote,and his mother is a heterozygote.The new missense mutation results in a change in the primary and tertiary structure of the IDS protein.It is possible that this mutation severely impairs enzymatic activity and is the underlying basis for the pathology seen in this patient with Hunter syndrome.

  6. A new mutation (1062 del 16) of iduronate-2-sulfatase gene from a Chinese patient with Hunter syndrome

    Institute of Scientific and Technical Information of China (English)

    2007-01-01

    Objective: To identify the mutations of iduronate-2-sulfatase (IDS) gene, to reveal its mutation features, and to establish a basis for genetic counseling and prenatal gene diagnosis of Hunter syndrome. Methods: Urine glycosaminoglycans (GAGs) assay, PCR and DNA sequencing were performed to detect mutation of IDS gene of the patient and his parents. Results:The result showed that the patient was: DS(++), HS(++), KS(-), CS(-), and that both of his parents were negative. A frame-shift deletion mutation (1062 del 16) was identified in exon 7 of the patient's IDS gene. His parents'genotypes were normal. Conclusion: The patient's mutation was not inherited by his parents but a novel one. The mutation probably altered the primary structure and tertiary structure of IDS enzyme protein remarkably and lowered the activity of IDS enzyme greatly. Therefore it is supposed to be the direct cause of the disorder.

  7. Hunters syndrom og hørenedsaettelse

    DEFF Research Database (Denmark)

    Kiaer, Eva Kirkegaard; Møller, Troels Reinholdt; Wetke, Randi

    2010-01-01

    functions and language were delayed, and he made audible respiratory sounds and was obviously nasally congested. The boy was referred for further investigations at the Department of Paediatrics. The tests showed that the boy suffered from Hunter Syndrome (MPSII) and he underwent relevant treatment....

  8. Wide allelic heterogeneity with predominance of large IDS gene complex rearrangements in a sample of Mexican patients with Hunter syndrome.

    Science.gov (United States)

    Alcántara-Ortigoza, M A; García-de Teresa, B; González-Del Angel, A; Berumen, J; Guardado-Estrada, M; Fernández-Hernández, L; Navarrete-Martínez, J I; Maza-Morales, M; Rius-Domínguez, R

    2016-05-01

    Hunter syndrome or mucopolysaccharidosis type II (MPSII) is caused by pathogenic variants in the IDS gene. This is the first study that examines the mutational spectrum in 25 unrelated Mexican MPSII families. The responsible genotype was identified in 96% of the families (24/25) with 10 novel pathogenic variants: c.133G>C, c.1003C>T, c.1025A>C, c.463_464delinsCCGTATAGCTGG, c.754_767del, c.1132_1133del, c.1463del, c.508-1G>C, c.1006+1G>T and c.(-217_103del). Extensive IDS gene deletions were identified in four patients; using DNA microarray analysis two patients showed the loss of the entire AFF2 gene, and epilepsy developed in only one of them. Wide allelic heterogeneity was noted, with large gene alterations (e.g. IDS/IDSP1 gene inversions, partial to extensive IDS deletions, and one chimeric IDS-IDSP1 allele) that occurred at higher frequencies than previously reported (36% vs 18.9-29%). The frequency of carrier mothers (80%) is consistent with previous descriptions (>70%). Carrier assignment allowed molecular prenatal diagnoses. Notably, somatic and germline mosaicism was identified in one family, and two patients presented thrombocytopenic purpura and pancytopenia after idursulfase enzyme replacement treatment. Our findings suggest a wide allelic heterogeneity in Mexican MPSII patients; DNA microarray analysis contributes to further delineation of the resulting phenotype for IDS and neighboring loci deletions.

  9. Hunter syndrome: Case report and review of literature

    African Journals Online (AJOL)

    There are about thirteen different clinical syndromes of. MPS.2 We report a case of Hunter syndrome, as far as we know this is the .... egaly and cardiovascular complications after the transplant in children. ' .... Bone marrow trans- plantation in ...

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

    Science.gov (United States)

    Dodsworth, Charlotte; Burton, Barbara K

    2014-02-01

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

  11. Diagnosis of Hunter's syndrome carriers; radioactive sulphate incorporation into fibroblasts in the presence of fructose 1-phosphate

    Energy Technology Data Exchange (ETDEWEB)

    Toennesen, T.; Lykkelund, C.; Guettler, F.

    1982-01-01

    Mutual correction of co-cultivated fibroblasts from patients with Hunter's and Hurler's syndrome could be inhibited by either fructose 1-phosphate or mannose 6-phosphate. In the presence of fructose 1-phosphate a 50% mixture of fibroblasts from a patient with Hunter's syndrome and a normal homozygous individual showed an increased /sup 35/S-sulphate incorporation into acid mucopolysaccharides. When fibroblast cultures from one obligate and two possible carriers of Hunter's syndrome were tested for /sup 35/S-sulphate incorporation, the cultures showed either twice the normal /sup 35/S-sulphate incorporation into acid mucopolysaccharides in the presence of fructose 1-phosphate or an abnormally high incorporation in the presence as well as in the absence of the sugar phosphate.

  12. Guidelines for diagnosis and treatment of Hunter Syndrome for clinicians in Latin America

    Directory of Open Access Journals (Sweden)

    Roberto Giugliani

    2014-06-01

    Full Text Available This review aims to provide clinicians in Latin America with the most current information on the clinical aspects, diagnosis, and management of Hunter syndrome, a serious and progressive disease for which specific treatment is available. Hunter syndrome is a genetic disorder where iduronate-2-sulfatase (I2S, an enzyme that degrades glycosaminoglycans, is absent or deficient. Clinical manifestations vary widely in severity and involve multiple organs and tissues. An attenuated and a severe phenotype are recognized depending on the degree of cognitive impairment. Early diagnosis is vital for disease management. Clinical signs common to children with Hunter syndrome include inguinal hernia, frequent ear and respiratory infections, facial dysmorphisms, macrocephaly, bone dysplasia, short stature, sleep apnea, and behavior problems. Diagnosis is based on screening urinary glycosaminoglycans and confirmation by measuring I2S activity and analyzing I2S gene mutations. Idursulfase (recombinant I2S (Elaprase®, Shire enzyme replacement therapy (ERT, designed to address the underlying enzyme deficiency, is approved treatment and improves walking capacity and respiratory function, and reduces spleen and liver size and urinary glycosaminoglycan levels. Additional measures, responding to the multi-organ manifestations, such as abdominal/inguinal hernia repair, carpal tunnel surgery, and cardiac valve replacement, should also be considered. Investigational treatment options such as intrathecal ERT are active areas of research, and bone marrow transplantation is in clinical practice. Communication among care providers, social workers, patients and families is essential to inform and guide their decisions, establish realistic expectations, and assess patients' responses.

  13. Guidelines for diagnosis and treatment of Hunter Syndrome for clinicians in Latin America

    Science.gov (United States)

    Giugliani, Roberto; Villarreal, Martha Luz Solano; Valdez, C. Araceli Arellano; Hawilou, Antonieta Mahfoud; Guelbert, Norberto; Garzón, Luz Norela Correa; Martins, Ana Maria; Acosta, Angelina; Cabello, Juan Francisco; Lemes, Aída; Santos, Mara Lucia Schmitz Ferreira; Amartino, Hernán

    2014-01-01

    This review aims to provide clinicians in Latin America with the most current information on the clinical aspects, diagnosis, and management of Hunter syndrome, a serious and progressive disease for which specific treatment is available. Hunter syndrome is a genetic disorder where iduronate-2-sulfatase (I2S), an enzyme that degrades glycosaminoglycans, is absent or deficient. Clinical manifestations vary widely in severity and involve multiple organs and tissues. An attenuated and a severe phenotype are recognized depending on the degree of cognitive impairment. Early diagnosis is vital for disease management. Clinical signs common to children with Hunter syndrome include inguinal hernia, frequent ear and respiratory infections, facial dysmorphisms, macrocephaly, bone dysplasia, short stature, sleep apnea, and behavior problems. Diagnosis is based on screening urinary glycosaminoglycans and confirmation by measuring I2S activity and analyzing I2S gene mutations. Idursulfase (recombinant I2S) (Elaprase®, Shire) enzyme replacement therapy (ERT), designed to address the underlying enzyme deficiency, is approved treatment and improves walking capacity and respiratory function, and reduces spleen and liver size and urinary glycosaminoglycan levels. Additional measures, responding to the multi-organ manifestations, such as abdominal/inguinal hernia repair, carpal tunnel surgery, and cardiac valve replacement, should also be considered. Investigational treatment options such as intrathecal ERT are active areas of research, and bone marrow transplantation is in clinical practice. Communication among care providers, social workers, patients and families is essential to inform and guide their decisions, establish realistic expectations, and assess patients’ responses. PMID:25071396

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

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

    2017-08-18

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

  15. Thoracolumbar kyphoscoliosis with unilateral subluxation of the spine and postoperative lumbar spondylolisthesis in Hunter syndrome.

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    Roberts, Simon B; Tsirikos, Athanasios I

    2016-03-01

    Surgical correction for kyphoscoliosis is increasingly being performed for patients with mucopolysaccharidosis (MPS). Reported case series have predominantly included patients with Type I (Hurler) and Type IV (Morquio) MPS. To their knowledge, the authors describe the first case report of surgical management of thoracolumbar kyphoscoliosis in Hunter syndrome (MPS Type II) and the rare occurrence of lumbar spondylolisthesis following surgical stabilization. A 12-year-old boy with Hunter syndrome presented with severe thoracolumbar kyphoscoliosis and no associated symptoms. Spinal radiographs demonstrated kyphosis of 48° (T11-L3) and scoliosis of 22° (T11-L3) with an anteriorly hypoplastic L-1 vertebra. The deformity progressed to kyphosis of 60° and scoliosis of 42° prior to surgical intervention. Spinal CT scans identified left T12-L1 facet subluxation, causing anterior rotatory displacement of the spine proximal to L-1 and bilateral L-5 isthmic spondylolysis with no spondylolisthesis. A combined single-stage anterior and posterior instrumented spinal arthrodesis from T-9 to L-4 was performed. Kyphosis and scoliosis were corrected to 4° and 0°, respectively. Prolonged ventilator support and nasogastric feedings were required for 3 months postoperatively. At 2.5 years following surgery, the patient was asymptomatic, mobilizing independently, and had achieved a solid spinal fusion. However, he had also developed a Grade II spondylolisthesis at L4-5; this was managed nonoperatively in the absence of symptoms or further deterioration of the spondylolisthesis to the 3.5-year postoperative follow-up visit. Satisfactory correction of thoracolumbar kyphoscoliosis in Hunter syndrome can be achieved by combined anterior/posterior instrumented arthrodesis. The risk of developing deformity or instability in motion segments adjacent to an instrumented fusion may be greater in patients with MPS related to the underlying connective tissue disorder.

  16. Levels of glycosaminoglycans in the cerebrospinal fluid of healthy young adults, surrogate-normal children, and Hunter syndrome patients with and without cognitive impairment

    Directory of Open Access Journals (Sweden)

    Christian J. Hendriksz

    2015-12-01

    Full Text Available In mucopolysaccharidoses (MPS, glycosaminoglycans (GAG accumulate in tissues. In MPS II, approximately two-thirds of patients are cognitively impaired. We investigated levels of GAG in cerebrospinal fluid (CSF in different populations from four clinical studies (including NCT00920647 and NCT01449240. Data indicate that MPS II patients with cognitive impairment have elevated levels of CSF GAG, whereas those with the attenuated phenotype typically have levels falling between those of the cognitively affected patients and healthy controls.

  17. Non-viral transfer approaches for the gene therapy of mucopolysaccharidosis type II (Hunter syndrome).

    Science.gov (United States)

    Tomanin, R; Friso, A; Alba, S; Piller Puicher, E; Mennuni, C; La Monica, N; Hortelano, G; Zacchello, F; Scarpa, M

    2002-01-01

    Hunter syndrome is a rare X-linked lysosomal storage disorder caused by the deficiency of the housekeeping enzyme iduronate-2-sulphatase (IDS). Deficiency of IDS causes accumulation of undegraded dermatan and heparan-sulphate in various tissues and organs. Approaches have been proposed for the symptomatic therapy of the disease, including bone marrow transplantation and, very recently, enzyme replacement. To date, gene therapy strategies have considered mainly retroviral and adenoviral transduction of the correct cDNA. In this paper, two non-viral somatic gene therapy approaches are proposed: encapsulated heterologous cells and muscle electro-gene transfer (EGT). Hunter primary fibroblasts were co-cultured with either cell clones over-expressing the lacking enzyme or with the same incorporated in alginate microcapsules. For EGT, plasmid vector was injected into mouse quadriceps muscle, which was then immediately electro-stimulated. Co-culturing Hunter primary fibroblasts with cells over-expressing IDS resulted in a three- to fourfold increase in fibroblast enzyme activity with respect to control cells. Fibroblast IDS activity was also increased after co-culture with encapsulated cells. EGT was able to transduce genes in mouse muscle, resulting in at least a tenfold increase in IDS activity 1-5 weeks after treatment. Although preliminary, results from encapsulated heterologous cell clones and muscle EGT encourage further evaluations for possible application to gene therapy for Hunter syndrome.

  18. Effect of recombinant human growth hormone on changes in height, bone mineral density, and body composition over 1-2 years in children with Hurler or Hunter syndrome.

    Science.gov (United States)

    Polgreen, Lynda E; Thomas, William; Orchard, Paul J; Whitley, Chester B; Miller, Bradley S

    2014-02-01

    Patients with Hurler or Hunter syndrome typically have moderate to severe growth deficiencies despite therapy with allogeneic hematopoietic stem cell transplantation and/or enzyme replacement therapy. It is unknown whether treatment with recombinant human growth hormone (hGH) can improve growth in these children. The objectives of this study were to determine the effects of hGH on growth, bone mineral density (BMD), and body composition in children with Hurler or Hunter syndrome enrolled in a longitudinal observational study. The difference in annual change in outcomes between hGH treated and untreated subjects was estimated by longitudinal regression models that adjusted for age, Tanner stage, and sex where appropriate. We report on 23 participants who completed at least 2 annual study visits (10 [43%] treated with hGH): Hurler syndrome (n=13) average age of 9.8 ± 3.1 years (range 5.3-13.6 years; 54% female) and Hunter syndrome (n=10) average age of 12.0 ± 2.7 years (range 7.0-17.0 years; 0% female). As a group, children with Hurler or Hunter syndrome treated with hGH had no difference in annual change in height (growth velocity) compared to those untreated with hGH. Growth velocity in hGH treated individuals ranged from -0.4 to 8.1cm/year and from 0.3 to 6.6 cm/year in the untreated individuals. Among children with Hunter syndrome, 100% (N=4) of those treated but only 50% of those untreated with hGH had an annual increase in height standard deviation score (SDS). Of the individuals treated with hGH, those with GHD had a trend towards higher annualized growth velocity compared to those without GHD (6.5 ± 1.9 cm/year vs. 3.5 ± 2.1cm/year; p=.050). Children treated with hGH had greater annual gains in BMD and lean body mass. In conclusion, although as a group we found no significant difference in growth between individuals treated versus not treated with hGH, individual response was highly variable and we are unable to predict who will respond to treatment. Thus

  19. Hunter syndrome

    Science.gov (United States)

    ... Diagnosis and Treatment . 5th ed. New York, NY: Springer; 2012:chap 40. Read More Breathing difficulty Chromosome ... medical conditions. Call 911 for all medical emergencies. Links to other sites are provided for information only -- ...

  20. Atypical clinical presentation of mucopolysaccharidosis type II (Hunter syndrome: a case report

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    Sharma Subodh

    2010-05-01

    Full Text Available Abstract Introduction We present a very rare case of mucopolysaccharidosis with atypical presentation such as mild mental retardation, an acrocephalic head and no corneal clouding. The purpose of presenting this case is to highlight the distinctive manifestation of mucopolysaccharidosis type II (Hunter syndrome. Case presentation A 10-year-old East Asian boy presented with abdominal distension of five years' duration and complained of shortness of breath on and off for the same period. On examination his head was large and his head circumference was 54.5 cm. His neck was short, he had coarse facial features, a depressed nasal bridge and small stubby fingers with flexion of distal interphalangeal joints, and a low arched palate was observed. There was mild mental retardation. Conclusion Based on clinical findings and radiological features it is possible to diagnose a case of mucopolysaccharidosis. Careful and systemic approach is needed to accurately diagnose the exact type as enzymatic studies are not available in most centers.

  1. Development of idursulfase therapy for mucopolysaccharidosis type II (Hunter syndrome): the past, the present and the future.

    Science.gov (United States)

    Whiteman, David Ah; Kimura, Alan

    2017-01-01

    Mucopolysaccharidosis type II (MPS II; Hunter syndrome; OMIM 309900) is a rare, multisystemic, progressive lysosomal storage disease caused by deficient activity of the iduronate-2-sulfatase (I2S) enzyme. Accumulation of the glycosaminoglycans dermatan sulfate and heparan sulfate results in a broad range of disease manifestations that are highly variable in presentation and severity; notably, approximately two-thirds of individuals are affected by progressive central nervous system involvement. Historically, management of this disease was palliative; however, during the 1990s, I2S was purified to homogeneity for the first time, leading to cloning of the corresponding gene and offering a means of addressing the underlying cause of MPS II using enzyme replacement therapy (ERT). Recombinant I2S (idursulfase) was produced for ERT using a human cell line and was shown to be indistinguishable from endogenous I2S. Preclinical studies utilizing the intravenous route of administration provided valuable insights that informed the design of the subsequent clinical studies. The pivotal Phase II/III clinical trial of intravenous idursulfase (Elaprase(®); Shire, Lexington, MA, USA) demonstrated improvements in a range of clinical parameters; based on these findings, intravenous idursulfase was approved for use in patients with MPS II in the USA in 2006 and in Europe and Japan in 2007. Evidence gained from post-approval programs has helped to improve our knowledge and understanding of management of patients with the disease; as a result, idursulfase is now available to young pediatric patients, and in some countries patients have the option to receive their infusions at home. Although ERT with idursulfase has been shown to improve somatic signs and symptoms of MPS II, the drug does not cross the blood-brain barrier and so treatment of neurological aspects of the disease remains challenging. A number of novel approaches are being investigated, and these may help to improve the

  2. Enzymatic replacement therapy for Hunter disease: Up to 9 years experience with 17 patients

    Directory of Open Access Journals (Sweden)

    Rossella Parini

    2015-06-01

    Full Text Available Hunter disease is an X-linked lysosomal storage disorder characterized by progressive storage of glycosaminoglycans (GAGs and multi-organ impairment. The central nervous system (CNS is involved in at least 50% of cases. Since 2006, the enzymatic replacement therapy (ERT is available but with no effect on the cognitive impairment, as the present formulation does not cross the blood–brain barrier. Here we report the outcome of 17 Hunter patients treated in a single center. Most of them (11 started ERT in 2006, 3 had started it earlier in 2004, enrolled in the phase III trial, and 3 after 2006, as soon as the diagnosis was made. The liver and spleen sizes and urinary GAGs significantly decreased and normalized throughout the treatment. Heart parameters improved, in particular the left ventricular mass index/m2 decreased significantly. Amelioration of hearing was seen in many patients. Joint range of motion improved in all patients. However, no improvement on respiratory function, eye, skeletal and CNS disease was found. The developmental quotient of patients with a CNS involvement showed a fast decline. These patients were no more testable after 6 years of age and, albeit the benefits drawn from ERT, their quality of life worsened throughout the years. The whole group of patients showed a consistent residual disease burden mainly represented by persistent skeletal disease and frequent need of surgery. This study suggests that early diagnosis and treatment and other different therapies which are able to cross the blood–brain barrier, might in the future improve the MPS II outcome.

  3. Molecular diagnosis of mucopolysaccharidosis Type II (Hunter syndrome) by automated sequencing and computer-assisted interpretation: Toward mutation mapping of the Iduronate-2-sulfatase gene

    Energy Technology Data Exchange (ETDEWEB)

    Jonsson, J.J.; Aronovich, E.L.; Braun, S.E.; Whitley, C.B. [Univ. of Minnesota Medical School, Minneapolis, MN (United States)

    1995-03-01

    Virtually all mutations causing Hunter syndrome (mucopolysaccharidosis type II) are expected to be new mutations. Therefore, as a means of molecular diagnosis, we developed a rapid method to sequence the entire iduronate-2-sulfatase (IDS) coding region. PCR amplicons representing the IDS cDNA were sequenced with an automatic instrument, and output was analyzed by computer-assisted interpretation of tracings, using Staden programs on a Sun computer. Mutations were found in 10 of 11 patients studied. Unique missense mutations were identified in five patients: H229Y (685{r_arrow}T, severe phenotype); P358R (1073C{r_arrow}G, severe); R468W (1402C{r_arrow}T, mild); P469H (1406C{r_arrow}A, mild); and Y523C (1568A{r_arrow}G, mild). Nonsense mutations were identified in two patients: R172X (514C{r_arrow}T, severe) and Q389X (1165C{r_arrow}T, severe). Two other patients with severe disease had insertions of 1 and 14 bp, in exons 3 and 6, respectively. In another patient with severe disease, the predominant (<95%) IDS message resulted from aberrant splicing, which skipped exon 3. In this last case, consensus sequences for splice sites in exon 3 were intact, but a 395C{r_arrow}G mutation was identified 24 bp upstream from the 3` splice of exon 3. This mutation created a cryptic 5` splice site with a better consensus sequence for 5` splice sites than the natural 5` splice site of intron 3. A minor population of the IDS message was processed by using this cryptic splice site; however, no correctly spliced message was detected in leukocytes from this patient. The mutational topology of the IDS gene is presented. 46 refs., 6 figs., 2 tabs.

  4. Vulnerable Hunter

    Directory of Open Access Journals (Sweden)

    Md.Asha Begum

    2016-05-01

    Full Text Available This project "VULNERABLE HUNTER" application main aim is to detect risk in our mobile applications. This application contains modules like Fetch Application, Generate Score, Uninstall and Display Graph. Through this application it detects risk so that this application is very useful to smart phone users Now-a-days so many people are using smart phones and people are crazy about new apps. But by installing all the applications into our mobile may reduce its performance. Some apps contain more risk. But user may not know the effects that are caused by the app which is installed until the performance of mobile is reduced. With the prosperity of the Android app economy, many apps have been published and sold in various markets. However, short development applications and insufficient security development apps have led to many vulnerable apps. So to reduce these type of problems Vulnerable Hunter is proposed. Through the proposed application user can see which application is risky and then the user may uninstall that application. The main advantage of designing this app is without internet also the users will use this application. Users also feel more convenient to work with mobile apps.

  5. Scheie syndrome

    Science.gov (United States)

    ... Hurler syndrome) MPS II (Hunter syndrome) MPS IV (Morquio syndrome) MPS III (Sanfilippo syndrome) Causes Scheie syndrome ... Autosomal recessive Cloudy cornea Hearing loss Hurler syndrome Morquio syndrome Review Date 4/20/2015 Updated by: ...

  6. Hunter syndrome in an 11-year old girl on enzyme replacement therapy with idursulfase: brain magnetic resonance imaging features and evolution.

    Science.gov (United States)

    Manara, Renzo; Rampazzo, Angelica; Cananzi, Mara; Salviati, Leonardo; Mardari, Rodica; Drigo, Paola; Tomanin, Rosella; Gasparotto, Nicoletta; Priante, Elena; Scarpa, Maurizio

    2010-12-01

    Mucopolysaccharidosis type II (MPS-II, Hunter disease) is a X-linked recessive disorder. Affected females are extremely rare, mostly due to skewed X chromosome inactivation. A few papers outline MPS-II brain magnetic resonance imaging (MRI) "gestalt" in males, but neuroradiological reports on females are still lacking. We present an 11-year-old girl affected by the severe form of MPS-II who was followed up over a time span of 8 years, focusing on clinical and brain MRI evolution. In the last 2.5 years, the patient has been treated with enzyme replacement therapy (ERT) with idursulfase (Elaprase™, Shire Human Genetic Therapies AB, Sweden). On brain and cervical MRI examination, abnormalities in our patient did not differ from those detected in male patients: J-shaped pituitary sella, enlargement of perivascular spaces, brain atrophy, mild T2-hyperintensity in the paratrigonal white matter, diffuse platyspondylia, and mild odontoid dysplasia with odontoid cup. Brain atrophy progressed despite ERT introduction, whereas perivascular space enlargement did not change significantly before and after ERT. Cognitive impairment worsened independently from the course of white matter abnormality. Despite a profound knowledge of genetic and biochemical aspects in MPS-II, neuroradiology is still poorly characterized, especially in female patients. Spinal and brain involvement and its natural course and evolution after ERT introduction still need to be clarified.

  7. [Asthenic syndrome in patients with burnout syndrome].

    Science.gov (United States)

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

    2013-01-01

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

  8. Hunters' motivations and values:

    DEFF Research Database (Denmark)

    Radder, Laetitia; Bech-Larsen, Tino

    2008-01-01

    This article examines the values and motivations of South African biltong hunters. A hierarchical value map of associations between attributes, consequences and values resulted from laddering interviews with 34 hunters. The Means-End Chain approach proved useful in identifying: (a) personal values......, (b) wildlife value orientations, and (c) motivations associated with desired benefits and satisfactions. Values reflected socialization, achievement, stimulation, hedonism, universalism, and conformity. Materialism, attraction/interest, respect, environmentalism, and rational/scientific were...... the predominant wildlife value orientations. Motivations included male identity, escape, appreciation of nature, and bonding with family and friends. The study refuted perceptions that biltong hunters primarily hunt for the meat or for the sake of killing an animal....

  9. Hunters' motivations and values:

    DEFF Research Database (Denmark)

    Radder, Laetitia; Bech-Larsen, Tino

    2008-01-01

    This article examines the values and motivations of South African biltong hunters. A hierarchical value map of associations between attributes, consequences and values resulted from laddering interviews with 34 hunters. The Means-End Chain approach proved useful in identifying: (a) personal values......, (b) wildlife value orientations, and (c) motivations associated with desired benefits and satisfactions. Values reflected socialization, achievement, stimulation, hedonism, universalism, and conformity. Materialism, attraction/interest, respect, environmentalism, and rational/scientific were...... the predominant wildlife value orientations. Motivations included male identity, escape, appreciation of nature, and bonding with family and friends. The study refuted perceptions that biltong hunters primarily hunt for the meat or for the sake of killing an animal....

  10. Roentgenographic diagnosis of mucopolysaccharidosis with particular reference to Morquio syndrome

    Directory of Open Access Journals (Sweden)

    umesh chandra parashari

    2012-02-01

    Full Text Available Mucopolysaccharidosis (MPS comprises a group of conditions associated with an abnormality in glycoprotein or mucopolysaccharides metabolism. Types of MPS identified are MPS I-H (Hurler's syndrome, gargoylism, MPS II (Hunter's syndrome, MPS III (Sanfilippo's syndrome, MPS IV (Morquio-Brailsford syndrome, MPS I-S (Scheie's syndrome and MPS VI (Maroteaux-Lamy syndrome. The Hunter type is inherited as an X-linked recessive; the others are autosomal recessive. Patients with MPS IV can usually be clinically distinguished from patients with other forms of MPS; their intelligence is unimpaired, in contrast with other forms of MPS. Husler coined the term dysostosis multiplex to describe the skeletal findings.

  11. The Higgs hunter's guide

    CERN Document Server

    Gunion, John F; Haber, Howard E; Kane, Gordon L

    1989-01-01

    The Higgs Hunter's Guide is a definitive and comprehensive guide to the physics of Higgs bosons. In particular, it discusses the extended Higgs sectors required by those recent theoretical approaches that go beyond the Standard Model, including supersymmetry and superstring-inspired models.

  12. Hunter College Dance Therapy Masters Program.

    Science.gov (United States)

    Schmais, Claire; White, Elissa Q.

    Described is development of the Hunter College dance therapy 18-month 30-credit masters program involving 33 adult students, (in two classes beginning in 1971 and 1972), an educational model, internship in psychiatric institutions, and preparation of instructional materials. The dance therapist is said to incorporate the psychiatric patient's…

  13. Myelodysplastic Syndrome Occurring in a Patient with Gorlin Syndrome.

    Science.gov (United States)

    Mull, Jamie L; Madden, Lisa M; Bayliss, Susan J

    2016-07-01

    We report a case of myelodysplastic syndrome (MDS) occurring in an African American boy with Gorlin syndrome with a novel PTCH1 mutation. Before developing MDS, the patient had been treated with chemotherapy and radiation for a medulloblastoma. He received a bone marrow transplant for the MDS and eventually died of treatment complications. Secondary hematologic malignancies are a known complication of certain chemotherapeutics, although whether a patient with Gorlin syndrome has a greater propensity for the development of such malignancies is unclear.

  14. The Infrared Hunter

    Science.gov (United States)

    2006-01-01

    [figure removed for brevity, see original site] [figure removed for brevity, see original site] Figure 1Figure 2 This image composite compares infrared and visible views of the famous Orion nebula and its surrounding cloud, an industrious star-making region located near the hunter constellation's sword. The infrared picture is from NASA's Spitzer Space Telescope, and the visible image is from the National Optical Astronomy Observatory, headquartered in Tucson, Ariz. In addition to Orion, two other nebulas can be seen in both pictures. The Orion nebula, or M42, is the largest and takes up the lower half of the images; the small nebula to the upper left of Orion is called M43; and the medium-sized nebula at the top is NGC 1977. Each nebula is marked by a ring of dust that stands out in the infrared view. These rings make up the walls of cavities that are being excavated by radiation and winds from massive stars. The visible view of the nebulas shows gas heated by ultraviolet radiation from the massive stars. Above the Orion nebula, where the massive stars have not yet ejected much of the obscuring dust, the visible image appears dark with only a faint glow. In contrast, the infrared view penetrates the dark lanes of dust, revealing bright swirling clouds and numerous developing stars that have shot out jets of gas (green). This is because infrared light can travel through dust, whereas visible light is stopped short by it. The infrared image shows light captured by Spitzer's infrared array camera. Light with wavelengths of 8 and 5.8 microns (red and orange) comes mainly from dust that has been heated by starlight. Light of 4.5 microns (green) shows hot gas and dust; and light of 3.6 microns (blue) is from starlight.

  15. Planet Hunters: A Status Report

    Science.gov (United States)

    Schwamb, Megan E.; Orosz, J. A.; Carter, J. A.; Fischer, D. A.; Howard, A. W.; Crepp, J. R.; Welsh, W. F.; Kaib, N. A.; Lintott, C. J.; Terrell, D.; Jek, K. J.; Gagliano, R.; Parrish, M.; Smith, A. M.; Lynn, S.; Brewer, J. M.; Giguere, M. J.; Schawinski, K.; Simpson, R. J.

    2012-10-01

    The Planet Hunters (http://www.planethunters.org) citizen science project uses the power of human pattern recognition via the World Wide Web to identify transits in the Kepler public data. Planet Hunters uses the Zooniverse (http://www.zooniverse.org) platform to present visitors to the Planet Hunters website with a randomly selected 30-day light curve segment from one of Kepler's 160,000 target stars. Volunteers are asked to draw boxes to mark the locations of visible transits with multiple independent classifiers reviewing each 30-day light curve segment. Since December 2010, more than 170,000 members of the general public have participated in Planet Hunters contributing over 12.5 million classifications searching the 1 1/2 years of publicly released Kepler observations. Planet Hunters is a novel and complementary technique to the automated transit detection algorithms, providing an independent assessment of the completeness of the Kepler exoplanet inventory. We report the latest results from Planet Hunters, highlighting in particular our latest efforts to search for circumbinary planets (planets orbiting a binary star) and single transit events in the first 1.5 years of public Kepler data. We will present a status report of our search of the first 6 Quarters of Kepler data, introducing our new planet candidates and sharing the results of our observational follow-up campaign to characterize these planetary systems. Acknowledgements: MES is supported by a NSF Astronomy and Astrophysics Postdoctoral Fellowship under award AST-1003258. This is research is supported in part by an American Philosophical Society Franklin Grant.

  16. Identification and specialization as a waterfowl hunter

    Science.gov (United States)

    Schroeder, Susan A.; Fulton, David C.; Lawrence, Jeffrey S.; Cordts, Steven D.

    2013-01-01

    Like specialization, identity offers a way for differentiating and understanding recreationists and for gaining insight into the question of participant progression in an activity. We examined how identity related to measures of specialization among lapsed and current waterfowl hunters. Lapsed hunters included those who had purchased a Minnesota waterfowl stamp between 2000 and 2004, but not since this time. Current hunters had purchased a 2010 stamp. Results suggested that some waterfowl hunters specialize and progress toward a waterfowl-hunter identity. Others, however, either hunt for years but never specialize and identify as waterfowl hunters, or move toward but do not attain a waterfowl hunter identity. Individuals who achieve a waterfowl hunter identity may also later relinquish this identity. Identification was associated with increased specialization and resistance to change from a preference for waterfowl hunting. Individuals who had relinquished their identity retained social and knowledge-based commitment to waterfowl hunting, whereas attraction and centrality declined.

  17. Management of the patient with refeeding syndrome.

    Science.gov (United States)

    Lauts, Nada M

    2005-01-01

    Refeeding syndrome is a metabolic complication that can occur when nutrition is reintroduced for patients who are severely malnourished. This syndrome can occur with any form of nutrition (oral, enteral, or parenteral), and it is fatal if not recognized and treated properly. This article discusses the body's adaptation to starvation, the pathophysiology and risk factors of refeeding syndrome, and the pharmacologic treatment of complications that threaten the lives of patients who experience this disorder. Additionally, this article discusses standards of care to ensure the early recognition of patients at risk for refeeding syndrome and the nursing considerations that can be implemented to prevent it.

  18. Alcohol withdrawal syndrome in medical patients.

    Science.gov (United States)

    Gortney, Justine S; Raub, Joshua N; Patel, Pragnesh; Kokoska, Lianne; Hannawa, Mae; Argyris, Amy

    2016-01-01

    The authors provide a critical review focusing on pharmacotherapy of alcohol withdrawal syndrome in hospitalized patients who are not critically ill. They outline recommendations for patient assessment and monitoring. Copyright © 2016 Cleveland Clinic.

  19. Malpuech syndrome: three patients and a review.

    NARCIS (Netherlands)

    Kerstjens-Frederikse, W.S.; Brunner, H.G.; Dael, C.M. van; Essen, A.J. van

    2005-01-01

    We describe three patients with Malpuech syndrome from two families. Previously, 10 patients from 6 families have been reported. Consanguinity in two families suggests autosomal recessive inheritance. Growth retardation, mental retardation, cleft lip, and/or palate, hypertelorism, urogenital

  20. Malpuech syndrome : Three patients and a review

    NARCIS (Netherlands)

    Kerstjens-Frederikse, WS; Brunner, HG; van Dael, CML; van Essen, AJ

    2005-01-01

    We describe three patients with Malpucch syndrome from two families. Previously, 10 patients from 6 families have been reported. Consanguinity in two families suggests autosomal recessive inheritance. Growth retardation, mental retardation, cleft lip, and/or palate, hypertelorism, urogenital

  1. Neuroleptic malignant syndrome in elderly patients.

    Science.gov (United States)

    Caroff, Stanley N; Campbell, E Cabrina; Sullivan, Kenneth A

    2007-04-01

    Antipsychotic drugs are widely and increasingly prescribed for neurobehavioral disorders in elderly patients. However, the efficacy of these drugs has not been consistently demonstrated in geriatric populations and there are continuing concerns regarding adverse effects. Among the latter are severe neurological disorders, including neuroleptic malignant syndrome. Although the incidence and mortality of neuroleptic malignant syndrome may have declined with heightened awareness of this disorder and the development of newer drugs, neuroleptic malignant syndrome still occurs in association with the use of antipsychotics. To enhance patient safety and clinical vigilance among practitioners, the authors present a clinical overview of neuroleptic malignant syndrome.

  2. Rabbit hunter uveitis: case report of tularemia uveitis.

    Science.gov (United States)

    Terrada, Céline; Azza, Said; Bodaghi, Bahram; Le Hoang, Phuc; Drancourt, Michel

    2016-09-01

    Literature reports on ophthalmological manifestations related to tularemia, a zoonose caused by the bacterium Francisella tularensis, largely refer to Parinaud's oculoglandular syndrome, which consists of the association of conjunctivitis with preauricular lymphadenitis. In this paper, we report a case of intraocular inflammation during tularemia infection. A 52-year-old Caucasian man was diagnosed with unilateral uveitis. The uveitis was posterior, with a 2+ vitritis and a large yellowish lesion involving the macula with an overlying sub-retinal detachment, extending inferiorly, and subretinal hemorrhages. Fluorescein angiography showed a late hyperfluorescence with focal vascular leakage. Ultrasound biomicroscopy confirmed the presence of a 3.8 mm parietal granuloma with a few calcifications in the left eye. While extensive work-up eliminated any other infectious and non-infectious etiology, tularemia was diagnosed by advanced serology consisting of two-dimensional Western-immunoblotting. The patient, a hunter, recalled having killed rabbits in the days before the symptoms appeared. Uveitis was rapidly controlled following treatment with doxycycline, yet three years after initiation of the treatment, the patient still complained of loss of vision in the left eye with a central scotoma. Posterior uveitis may be an infrequent manifestation of tularemia infection, and therefore this infection should be considered in the differential diagnosis of intraocular inflammation in areas where F. tularensis is endemic.

  3. Screening for Cushing's syndrome in obese patients

    Directory of Open Access Journals (Sweden)

    Ozay Tiryakioglu

    2010-01-01

    Full Text Available OBJECTIVES: The aim of this study was to examine the frequency of Cushing's syndrome (CS in obese patients devoid of specific clinical symptoms of Cushing's syndrome. METHODS: A total of 150 obese patients (129 female, 21 male; mean age 44.41 ± 13.34 yr; mean BMI 35.76 ± 7.13 were included in the study. As a first screening step, we measured 24-h urinary free cortisol (UFC. An overnight 1-mg dexamethasone suppression test was also performed on all patients. Urinary free cortisol levels above 100 μg/24 h were considered to be abnormal. Suppression of serum cortisol 100 μg/24 h were recorded in 37 patients (24%. Cushing's syndrome was diagnosed in 14 of the 150 patients (9.33%. Etiologic reasons for Cushing's syndrome were pituitary microadenoma (9 patients, adrenocortical adenoma (3 patients, and adrenocortical carcinoma (1 patient. CONCLUSION: A significant proportion (9.33% of patients with simple obesity were found to have Cushing's syndrome. These findings argue that obese patients should be routinely screened for Cushing's syndrome.

  4. Refeeding syndrome in hospitalized pediatric patients.

    Science.gov (United States)

    Dunn, Rebecca L; Stettler, Nicolas; Mascarenhas, Maria R

    2003-08-01

    Refeeding syndrome has been well documented over the years, primarily through case reports and literature reviews. Awareness of refeeding syndrome is crucial in preventing the occurrence of, and the metabolic and physiologic complications associated with, aggressive nutrition support in malnourished populations. Once compromised patients have been identified to be at risk of refeeding syndrome, nutrition rehabilitation should be cautiously initiated. We have found a lack of clinical validation for instituting nutrition support in high-risk pediatric patients who may develop refeeding syndrome. The purposes of our investigation were to determine the incidence of refeeding syndrome in pediatric hospitalized patients beginning on parenteral nutrition and to determine how consistently the Department of Clinical Nutrition standards of care for screening and prevention were followed at our institution.

  5. Travels with the Fossil Hunters

    Science.gov (United States)

    Whybrow, Peter J.

    2000-04-01

    Whether dodging bullets in West Africa, or rabid dogs in Pakistan, surviving yak-butter tea in Tibet, or eating raw fish in China, the life of a globe-trotting fossil hunter is often hazardous and always filled with surprises. Travels with the Fossil Hunters lets readers share the wonder, joys of discovery, and excitement of these intrepid scientists. Packed with more than 100 beautiful, full-color photographs, the volume takes readers on twelve expeditions to remote parts of the world in search of diverse fossil remains, from those of dinosaurs to human ancestors. Each expedition by paleontologists from London's Natural History Museum reveals the problems and challenges of working in extreme conditions, from the deserts of the Sahara and Yemen to the frozen wastes of Antarctica, from the mountains of India to the forests of Latvia. Along the way they also describe the paleontology and geology of the countries they visit and the scientific reasons for their expeditions. With a foreword from Sir David Attenborough and an introduction from Richard Fortey, this fascinating book will appeal to amateur and professional fossil hunters alike and to readers interested in accounts of exotic locales. Peter Whybrow is a research scientist at the Natural History Museum, London. His research interests include Arabian Miocene vertebrates, paleoclimates, paleogeography, and biotic diversity. He is senior editor with A. Hill of Fossil Vertebrates of Arabia (Yale University Press, New Haven, 1999).

  6. Murine neural stem cells model Hunter disease in vitro: glial cell-mediated neurodegeneration as a possible mechanism involved.

    Science.gov (United States)

    Fusar Poli, E; Zalfa, C; D'Avanzo, F; Tomanin, R; Carlessi, L; Bossi, M; Nodari, L Rota; Binda, E; Marmiroli, P; Scarpa, M; Delia, D; Vescovi, A L; De Filippis, L

    2013-11-07

    Mucopolysaccharidosis type II (MPSII or Hunter Syndrome) is a lysosomal storage disorder caused by the deficit of iduronate 2-sulfatase (IDS) activity and characterized by progressive systemic and neurological impairment. As the early mechanisms leading to neuronal degeneration remain elusive, we chose to examine the properties of neural stem cells (NSCs) isolated from an animal model of the disease in order to evaluate whether their neurogenic potential could be used to recapitulate the early phases of neurogenesis in the brain of Hunter disease patients. Experiments here reported show that NSCs derived from the subventricular zone (SVZ) of early symptomatic IDS-knockout (IDS-ko) mouse retained self-renewal capacity in vitro, but differentiated earlier than wild-type (wt) cells, displaying an evident lysosomal aggregation in oligodendroglial and astroglial cells. Consistently, the SVZ of IDS-ko mice appeared similar to the wt SVZ, whereas the cortex and striatum presented a disorganized neuronal pattern together with a significant increase of glial apoptotic cells, suggesting that glial degeneration likely precedes neuronal demise. Interestingly, a very similar pattern was observed in the brain cortex of a Hunter patient. These observations both in vitro, in our model, and in vivo suggest that IDS deficit seems to affect the late phases of neurogenesis and/or the survival of mature cells rather than NSC self-renewal. In particular, platelet-derived growth factor receptor-α-positive (PDGFR-α+) glial progenitors appeared reduced in both the IDS-ko NSCs and in the IDS-ko mouse and human Hunter brains, compared with the respective healthy controls. Treatment of mutant NSCs with IDS or PDGF throughout differentiation was able to increase the number of PDGFR-α+ cells and to reduce that of apoptotic cells to levels comparable to wt. This evidence supports IDS-ko NSCs as a reliable in vitro model of the disease, and suggests the rescue of PDGFR-α+ glial cells as a

  7. Mutation screening in Rett syndrome patients

    National Research Council Canada - National Science Library

    Xiang, F; Buervenich, S; Nicolao, P; Bailey, M E; Zhang, Z; Anvret, M

    2000-01-01

    Rett syndrome (RTT) was first described in 1966. Its biological and genetic foundations were not clear until recently when Amir et al reported that mutations in the MECP2 gene were detected in around 50% of RTT patients...

  8. RESISTANT HYPERTENSION IN A PATIENT WITH METABOLIC SYNDROME

    OpenAIRE

    O. M. Drapkina; J. S. Sibgatullina

    2016-01-01

    Clinical case of resistant hypertension in a patient with metabolic syndrome is presented. Features of hypertension in metabolic syndrome and features of metabolic syndrome in women of pre- and postmenopausal age are also considered. Understanding the features of metabolic syndrome in women, as well as features of hypertension and metabolic syndrome will improve the results of treatment in patients with resistant hypertension.

  9. [Dry eye syndrome in rheumatoid arthritis patients].

    Science.gov (United States)

    Polanská, V; Hlinomazová, Z; Fojtík, Z; Nemec, P

    2007-11-01

    The aim of this cross-sectional study was to review the incidence of the dry eye syndrome in rheumatoid arthritis (RA) patients, evaluate the association among the incidence of the dry eye syndrome, presence of positive rheumatoid factor (RF), the RA stage, and the duration of the disease. The group consisted of altogether 100 patients, 16 men and 84 women; the average age was 58.9 years (SD 14.6). The average duration of RA was 12.3 years, SD 11.0. In each patient, the Schirmer test I was performed, the presence of the LIPCOF (Lid Parallel Conjunctival Folds) on the slit lamp was assessed, the BUT (Tear Break-Up Time) was measured and vital fluorescein staining was performed. In each patient the data of the presence or absence of the RF in the serum, RA severity according to the X-ray examination, and the disease duration were recorded. The Pearson's association test for nominal variables was used for statistical evaluation of the association between the rheumatoid arthritis presence and the dry eye syndrome. In our group of 100 patients, the Schirmer test I was positive in 67% of patients. Positive BUT was marked in 84 % of patients. The conjunctival folds were present in 45 % of patients only. The pathological findings after cornea fluorescein staining appeared in 18 % of patients. The dry eye syndrome incidence was marked in 74% of patients with RA. Subjective difficulties were declared by 38.3% of patients only. The local treatment was already established in 23.0% of patients only. We did not find statistically significant correlation between the RF positive rheumatoid arthritis appearance and dry eye syndrome, nor between the stage of the rheumatoid arthritis and presence of the dry eye syndrome. We proved statistical connection between the presence of dry eye syndrome and the duration of rheumatoid arthritis longer than 10 years. Keratoconjunctivitis sicca is the most common ocular complication in rheumatoid arthritis patients. We proved the connection

  10. Hunter Valley的诚信%Hunter Valley's Honesty

    Institute of Scientific and Technical Information of China (English)

    2007-01-01

    @@ 去年圣诞节假期,我和小T曾和大连狮子一家三口,到悉尼附近知名旅游地Hunter Valley(猎人谷)度过了快乐充实的三天. 我们一行五人在圣诞节那天乘坐提前预订好的马车,大约走访了八、九个大大小小的葡萄洒园.

  11. Hunters in the new millennium”

    DEFF Research Database (Denmark)

    Hansen, Hans Peter

    of the modern world continue to practice hunting? What are the preferences of the modern hunter? How are the preferences and conduct of hunters related to the social and demographic factors? What are the social, political and economical impacts of hunting? What motivates people to hunt? - In spite of the fact...... that hunting is a common source of conflict between different interests, only very few studies has been made to produce knowledge about people hunting for leisure. The survey “Hunters in the new millennium” is an attempt to contribute to a better understanding of hunters and hunting in an increasing urbanized...

  12. Bartonella henselae infection in a family experiencing neurological and neurocognitive abnormalities after woodlouse hunter spider bites

    Science.gov (United States)

    2013-01-01

    Background Bartonella species comprise a group of zoonotic pathogens that are usually acquired by vector transmission or by animal bites or scratches. Methods PCR targeting the Bartonella 16S-23S intergenic spacer (ITS) region was used in conjunction with BAPGM (Bartonella alpha Proteobacteria growth medium) enrichment blood culture to determine the infection status of the family members and to amplify DNA from spiders and woodlice. Antibody titers to B. vinsonii subsp. berkhoffii (Bvb) genotypes I-III, B. henselae (Bh) and B. koehlerae (Bk) were determined using an IFA test. Management of the medical problems reported by these patients was provided by their respective physicians. Results In this investigation, immediately prior to the onset of symptoms two children in a family experienced puncture-like skin lesions after exposure to and presumptive bites from woodlouse hunter spiders. Shortly thereafter, the mother and both children developed hive-like lesions. Over the ensuing months, the youngest son was diagnosed with Guillain-Barre (GBS) syndrome followed by Chronic Inflammatory Demyelinating Polyradiculoneuropathy (CIDP). The older son developed intermittent disorientation and irritability, and the mother experienced fatigue, headaches, joint pain and memory loss. When tested approximately three years after the woodlouse hunter spider infestation, all three family members were Bartonella henselae seroreactive and B. henselae DNA was amplified and sequenced from blood, serum or Bartonella alpha-proteobacteria (BAPGM) enrichment blood cultures from the mother and oldest son. Also, B. henselae DNA was PCR amplified and sequenced from a woodlouse and from woodlouse hunter spiders collected adjacent to the family’s home. Conclusions Although it was not possible to determine whether the family’s B. henselae infections were acquired by spider bites or whether the spiders and woodlice were merely accidental hosts, physicians should consider the possibility that B

  13. Tuberculosis in patients with myelodysplastic syndromes

    Energy Technology Data Exchange (ETDEWEB)

    Kim, Hyo-Cheol; Goo, Jin Mo; Kim, Hyun Beom; Lee, Joon Woo; Seo, Joon Beom; Im, Jung-Gi

    2002-05-01

    AIM: The purpose of our study was to describe radiological manifestations of tuberculosis in patients with myelodysplastic syndromes. MATERIALS AND METHODS: Chest radiographs and CTs of 12 patients with tuberculosis among 195 consecutive patients with myelodysplastic syndrome, proved by bone marrow biopsy, were reviewed. Six of the 12 patients presented with tuberculosis and were subsequently found to have myelodysplastic syndrome. RESULTS: Chest radiographs and CTs revealed pulmonary tuberculosis in all 12 patients and extrapulmonary tuberculous involvement in six (50%). Initial chest radiographic findings of pulmonary tuberculosis included a primary pattern (n = 6), a post-primary pattern (n = 3), a miliary pattern (n = 1), atypical infiltrates (n = 1) and normal radiograph (n = 1). Tuberculosis involved extrathoracic lymph nodes (n = 5), liver (n = 2), spleen (n = 2), kidney (n 2), bowel (n = 2), pericardium (n = 2) peritoneum (n = 1) and rib (n = 1). CONCLUSION: Tuberculosis is a relatively common cause of infection in patients with myelodysplastic syndromes. The radiological appearance of pulmonary tuberculosis in myelodysplastic syndromes is often a primary pattern, and there is frequently extrapulmonary involvement. Kim, H-C. et al. (2002)

  14. Electrolyte Imbalance in Patients with Sheehan's Syndrome

    Directory of Open Access Journals (Sweden)

    Chur Hoan Lim

    2015-12-01

    Full Text Available BackgroundWe investigated the prevalence of electrolyte imbalance and the relationship between serum electrolyte and anterior pituitary hormone levels in patients with Sheehan's syndrome.MethodsIn a retrospective study, we investigated 78 patients with Sheehan's syndrome. We also included 95 normal control subjects who underwent a combined anterior pituitary hormone stimulation test and showed normal hormonal responses.ResultsIn patients with Sheehan's syndrome, the serum levels of sodium, potassium, ionized calcium, magnesium, and inorganic phosphate were significantly lower than those in control subjects. The prevalence of hyponatremia, hypokalemia, hypocalcemia, hypomagnesemia, and hypophosphatemia in patients with Sheehan's syndrome was 59.0% (n=46, 26.9% (n=21, 35.9% (n=28, 47.4% (n=37, and 23.1% (n=18, respectively. Levels of sodium and ionized calcium in serum were positively correlated with levels of all anterior pituitary hormones (all P<0.05. Levels of potassium in serum were positively correlated with adrenocorticotrophic hormone (ACTH and growth hormone (GH levels (all P<0.05. Levels of inorganic phosphate in serum were positively correlated with levels of thyroid-stimulating hormone, prolactin, and GH (all P<0.05, and levels of magnesium in serum were positively correlated with delta ACTH (P<0.01.ConclusionElectrolyte imbalance was common in patients with Sheehan's syndrome. Furthermore, the degree of anterior pituitary hormone deficiency relates to the degree of electrolyte disturbance in patients with this disease.

  15. Supernumerary teeth in non-syndromic patients

    Energy Technology Data Exchange (ETDEWEB)

    Mali, Santosh; Karjodkar, Freny Rashmiraj; Sontakke, Subodh; Sansare, Kaustubh [Nair Hospital Dental College, Maharashtra (India)

    2012-03-15

    Hyperdontia or supernumerary teeth without associated syndrome is a rare phenomenon, as supernumerary teeth are usually associated with cleft lip and palate or other syndromes such as Gardner's syndrome, cleidocranial dysplasia, and so on. Five patients with supernumerary teeth visited our department. They had no familial history or other pathology, certain treatment protocols was modified due to the presence of supernumerary teeth. Non-syndromic supernumerary teeth, if asymptomatic, need to have periodical radiographic observation. If they showed no variation as they impacted in the jaw, careful examination is necessary because they may develop into pathological status such as dentigerous cysts. The importance of a precise clinical history and radiographic examination for patients with multiple supernumerary teeth should be emphasized.

  16. Danes - The keen bargain hunters

    DEFF Research Database (Denmark)

    Jensen, Birger Boutrup

    2008-01-01

    New research proves that Danes are keen bargain hunters, and that they do specific price checks before selecting a product.......New research proves that Danes are keen bargain hunters, and that they do specific price checks before selecting a product....

  17. BURNOUT SYNDROME IN PATIENTS WITH WORKPLACE HYPERTENSION

    Directory of Open Access Journals (Sweden)

    Yu. P. Zinchenko

    2016-01-01

    Full Text Available Aim. To study the presence, severity and qualitative characteristics of «burnout syndrome» in patients with «workplace hypertension» (WPH, in comparison with patients with essential hypertension and healthy people.Material and methods. Untreated patients with hypertension stage II, degree 1-2 (n=170; age 32-52 years; mean age 46.7Ѓ}4.1 years were examined. Group 1 included 85 patients with WPH (mean age 44.7Ѓ}4.3 years and Group 2 included 85 patients without WPH (mean age 47.4Ѓ}4.5 years. The duration of hypertension on average was 7.2Ѓ}2.6 years and was comparable in both groups. The control group included 82 healthy subjects (mean age 44.9Ѓ}3.1 years. The Russian version of the Maslach Burnout Inventory (MBI was used to diagnose «burnout syndrome».Results. Signs of «burnout syndrome» were found in the hypertensive patients of both groups. The high and medium levels of the «burnout syndrome» severity according to all three analyzed factors (emotional exhaustion, dehumanization/depersonification, and personal achievements were found in 59% of WPH patients, in 36% of hypertensive patients without WPH, and in 9% of healthy individuals. Most of WPH patients had high emotional exhaustion compared with other groups (27.5Ѓ}3.67 points vs 24.6Ѓ}4.3 and 20.1Ѓ}5.7 points in group 2, and group of healthy, respectively; p<0.05. Hypertensive men rated themselves as less successful professionally in comparison with women. Hypertensive women were more prone to emotional exhaustion and dehumanization/depersonification in comparison with men. Conclusion. Signs of «burnout syndrome» were found significantly more often in hypertensive patients in both groups than in healthy people. Medium and high intensity of all forms of «burnout syndrome» occurred in patients with WPH in comparison with healthy people and hypertensive patients without WPH.

  18. Metabolic syndrome patient compliance with drug treatment

    Directory of Open Access Journals (Sweden)

    Nilcéia Lopes

    2008-01-01

    Full Text Available OBJECTIVES: 1 To evaluate the compliance with drug treatment in patients with metabolic syndrome. 2 To determine association between access to and use of medicines, as well as the level of knowledge of cardiovascular risk factors and compliance. INTRODUCTION: Low compliance has been one of the greatest challenges for the successful treatment of chronic diseases. Although this issue has been widely studied in patients with isolated hypertension, diabetes and dyslipidemia, compliance studies involving patients with these concomitant diseases or with metabolic syndrome diagnosis are scarce. METHODS: This was a cross-sectional study involving patients who have been diagnosed with metabolic syndrome according to the IDF criteria. Patients were being treated in a Health-Medical School Center bound to the Public Brazilian Healthcare System. This study was conducted in two phases. Phase I was characterized by analyzing medical records and Phase II involved interviewing the patients. A variation of the Morisky-Green Test was used to evaluate compliance. Compliance was the dependent variable and the independent variables included access to medicines, the use of medicines and the level of knowledge concerning cardiovascular risk factors. RESULTS: Two hundred and forty-three patients were identified as being eligible for Phase II, and 75 were included in the study. The average level of compliance was 5.44 points (standard deviation of 0.68, on a scale ranging from 1.00 to 6.00 points. There was no statistically meaningful association between independent variables and compliance. The level of patient knowledge of diet and dyslipidemia was considered to be low. CONCLUSIONS: Patients involved in this study exhibited a high level of compliance with drug treatment. Further research is needed to better elucidate the compliance behavior of patients who have been diagnosed with metabolic syndrome.

  19. BURNOUT SYNDROME IN PATIENTS WITH WORKPLACE HYPERTENSION

    OpenAIRE

    Zinchenko, Yu.P.; E. I. Pervichko; O. D. Ostroumova

    2016-01-01

    Aim. To study the presence, severity and qualitative characteristics of «burnout syndrome» in patients with «workplace hypertension» (WPH), in comparison with patients with essential hypertension and healthy people.Material and methods. Untreated patients with hypertension stage II, degree 1-2 (n=170; age 32-52 years; mean age 46.7Ѓ}4.1 years) were examined. Group 1 included 85 patients with WPH (mean age 44.7Ѓ}4.3 years) and Group 2 included 85 patients without WPH (mean age 47.4Ѓ}4.5 years)...

  20. Clinical Features of Chinese of Chinese Patients with Fuchs' Syndrome

    NARCIS (Netherlands)

    Peizeng Yang,; Haoli Jin,; Bing Li,; Xuan Chen,; Kijlstra, A.

    2006-01-01

    Purpose: To characterize the clinical features of Chinese patients with Fuchs' syndrome. Design: Retrospective noncomparative case series. Participants: One hundred eighteen eyes of 104 consecutive patients with Fuchs' syndrome initially examined between January 1999 and March 2005. Methods: The his

  1. [Acute carpal tunnel syndrome in a patient with Marfan syndrome].

    Science.gov (United States)

    Franke, J; Wenzel, W; Rehfuss, D; Keiner, H P; Manncke, K

    2008-05-01

    Acute carpal tunnel syndrome (ACTS) is rare and is mostly the result of fractures of the distal radius or the carpal bones. This paper gives the first report of an ACTS following contusion of the wrist as the result of an extensive haematoma of the flexor tendon sheath, which did not appear until 50 hours after the injury was sustained but then developed rapidly. The patient suffers from Marfan syndrome. This disease is associated with pathologic changes to the major vessels, and especially the aorta, and of the smaller peripheral vessels. It is assumed that the haematoma arose from an aneurysm of such a small vessel. The treatment of choice in ACTS is emergency incision of the carpal tunnel.

  2. Paraneoplastic syndromes in patients with ovarian neoplasia.

    Science.gov (United States)

    Hudson, C N; Curling, M; Potsides, P; Lowe, D G

    1993-04-01

    The prevalence of several paraneoplastic syndromes associated with ovarian cancer was determined from a clinicopathological study of 908 patients with primary ovarian malignancy in the North East Thames Region. The diversity and rarity of these manifestations are great and the explanation for them is difficult. Circumstantial evidence suggests that in some cases an autoimmune phenomenon is the most plausible cause.

  3. Pituitary autoimmunity in patients with Sheehan's syndrome.

    Science.gov (United States)

    Goswami, Ravinder; Kochupillai, Narayana; Crock, Patricia A; Jaleel, Abdul; Gupta, Nandita

    2002-09-01

    Postpartum hemorrhage (PPH) is a frequent complication of pregnancy in India. Sheehan's description of postpartum hypopituitarism promoted the belief that PPH leads to necrosis of the enlarged pituitary gland of pregnancy and hypopituitarism. However, slow clinical progression suggests factors other than ischemia in its pathogenesis. Tissue necrosis could release sequestered antigens, triggering autoimmunity of the pituitary and delayed hypopituitarism in Sheehan's syndrome. Twenty-six consecutive patients with postpartum hypopituitarism were studied, 19 with Sheehan's syndrome based on a history of PPH and hormone profile suggesting pituitary failure [mean (SD) age 32.7 +/- 6.4 yr, duration of illness 5.5 +/- 3.1 yr], and seven patients with no history of PPH, categorized as "Other." Pituitary imaging and basal T(4), TSH, cortisol, LH, FSH, 17beta-estradiol, and autoantibodies against pituitary (PitAb) and thyroid (TMA) were evaluated. Controls included 28 healthy females without prior conception (22 +/- 5 yr) and 28 with prior conception (26 +/- 5 yr). Twelve of 19 (63.1%) patients with Sheehan's syndrome and one of seven in the Other group had PitAb against the 49-kDa autoantigen; neuron-specific enolase. Four of 28 (14.2%) controls without prior conception and 5 of 28 (17.8%) controls with prior conception had PitAb positivity (P Sheehan's syndrome, respectively). There was no significant difference in the mean serum hormone values and TMA positivity between patients with Sheehan's syndrome and the Other group as well as patients with or without PitAb positivity. Pituitary autoimmunity may play a role in the cause of hypopituitarism following PPH.

  4. Theophylline effects in patients with syndrome X

    Directory of Open Access Journals (Sweden)

    Sadeghian H

    2000-08-01

    Full Text Available A role of adenosine in pathogenesis of syndrome X has recently been postulated. Previous studies suggest that aminophylline (An adenosine receptor blocker improves exercise tolerance in this disorder. Present study was performed to examine the efficacy of Theophylline in syndrome X and to determine the incidence of cardiovascular risk factors and clinical, ECG and angiographic findings in these patients. 31 patients were studied. The first 16 patients received Theophylline. Other 15 cases received placebo. Exercise tolerance test was repeated after 1-2 weeks. Patients who received Theophylline had increase in rate-pressure product at peak exercise and decrease in symptoms during exercise, but stage of st depression, global and peak st depression, exercise tolerance and persistence of st depression more than 3 minutes in recovery and symptoms of patients in general were not significant different. Theophylline has a favorable effect on exercise, reduces chest pain and rate-pressure product at peak exercise in patients with syndrome X, but not on other variables of exercise test.

  5. Electroneurographic parameters in patients with metabolic syndrome

    Directory of Open Access Journals (Sweden)

    Suljo Kunić

    2014-04-01

    Full Text Available Introduction: The aim of this study was to measure electroneurographic (ENG parameters of the median and ulnar nerve in patients with metabolic syndrome and to determine whether the large imbalance in glycemic control came to neuropathic changes to the template.Methods: The study included 100 patients with metabolic syndrome diagnosed according to the criteria of the National Cholesterol Education Program - Adult Treatment Panel III (NCEP-ATP III. The patients were divided into two groups. Group I – patients with normal glycemic control and Group II - patients with diabetes mellitus for up to five years. We measured sensory conductive velocity (SCV, the amplitude of sensory nerve action potential (SNAP, motor conductive velocity (MCV, terminal motor latency (TML and compose muscle action potential after distal stimulation (CMAP-I and after proximal stimulation (CMAP-II for the ulnar and median nerve.Results: Sensory and motor parameters in Group II were amended to neuropathic pattern compared to Group I. There were significant differences in: SNAP amplitude for all tested nerves, SCV values for both left and right median and ulnar nerve; MCV and TML for left median nerve; MCV, TML and CMAP-I for right median nerve area; MCV and TML for left ulnar nerve; MCV, CMAP-I and CMAP-II for right ulnar nerve area.Conclusion: Patients with metabolic syndrome and diabetes mellitus duration of five years have the significant changes in sensory and motor peripheral nerves. Neuropathic changes are possible in patients with metabolic syndrome and normal glycemic control.

  6. Physiotherapy improves patient reported shoulder function and health status in patients with subacromial impingement syndrome

    DEFF Research Database (Denmark)

    Storgaard, Filip Holst; Pedersen, Christina Gravgaard; Jensen, Majbritt Lykke

    Physiotherapy improves patient reported shoulder function and health status in patients with subacromial impingement syndrome.......Physiotherapy improves patient reported shoulder function and health status in patients with subacromial impingement syndrome....

  7. Gerstmann'S syndrome in acute stroke patients.

    Science.gov (United States)

    Zukic, Sanela; Mrkonjic, Zamir; Sinanovic, Osman; Vidovic, Mirjana; Kojic, Biljana

    2012-12-01

    Gerstmann in 1924. observed in a few patients a concomitant impairment in discriminating their own fingers, writing by hand, distinguishing left from right and performing calculations. He claimed that this tetrad of symptoms constituted a syndromal entity, assigned it to a lesion of the dominant parietal lobe. Since than, Gerstmann`s syndrome (GS) was enigma for neuropsychologists. The aim of this study was to analyze frequency and clinical features of GS among acute stroke patients. We prospectively analyzed 194 acute stroke patients (average age 65±11.06 years, male 113 (58.2%), female 81 (41.8%) hospitalized at department of Neurology, University Clinical Center tuzla, during the six mounths in 2010. For clinical assessment of agraphia, alexia and acalculia we used Minessota test for differential diagnosis of aphasia's. Among these acute stroke patients, 59 (30.40%) had alexia, agraphia and acalculia or different combinations of these disorders. two patients (3.4%) had agraphia and acalculia associated with other part of tetrad of GS: fi nger agnosia and left-right disorientation. they both where men, right handed, and cranial computed tomography scan showed ischemic lesion in the left parietal and left temporoparietal lobe. Gerstmann`s syndrome is rare clinical entity, and has the high value in localization and the lesion is mainly localized to angular gyrus of the dominant hemisphere.

  8. The hunter a scientific novel

    CERN Document Server

    Genta, Giancarlo

    2013-01-01

    The 24th century: humankind has become a spacefaring civilization, colonizing the solar system and beyond. While no alien forms of life have yet been encountered in this expansion into space, colonists suddenly encounter machines of alien origin - huge robots able to reproduce themselves.  Called replicators by the colonists, they seem to have but a single goal: to destroy all organic life they come in contact with. Since the colonial governments have no means to fight this menace directly, they instead promise huge rewards to whoever destroys a replicator. As a result, the frontier attracts a new kind of adventurers, the Hunters, who work to find and destroy the replicators. Mike Edwards, a skilled young maintenance technician and robotics expert at a faraway outpost, will not only become one of them - but be the very first one to unlock the secret behind the replicators’ origin and mission.   The scientific and technical aspects underlying the plot - in particular space travel, robotics and self-replica...

  9. Sexual dysfunction in Klinefelter's syndrome patients.

    Science.gov (United States)

    El Bardisi, H; Majzoub, A; Al Said, S; Alnawasra, H; Dabbous, Z; Arafa, M

    2016-09-23

    Klinefelter's syndrome (KS) is the most common chromosomal abnormality in men with infertility and hypogonadism. Although its influence on fertility has been extensively investigated, very few studies assessed the sexual function of patients with KS. Our aim was to assess the prevalence of sexual dysfunction in patients with KS and investigate possible aetiological factors for reported findings. Medical records of 53 patients with KS were retrospectively reviewed and compared to 75 age-matched control subjects who were prospectively recruited. Sexual history was evaluated through utilisation of international index of erectile function-5 and Arabic index for premature ejaculation questionnaires. Sexual desire was reported subjectively by patients or controls. The incidence of erectile dysfunction and premature ejaculation in patients with KS was 18.9% and 22.6% respectively. Compared to age-matched controls, patients with KS had significantly lower incidence of PE. However, there was no statistically significant difference between both groups regarding erectile function. Libido was significantly lower in patients with KS than normal controls (54.7% vs. 17.3%, p = 0.001). Klinefelter's syndrome is a condition that has a variable presentation. Despite having a higher likelihood of reduced sexual desire, patients may have normal erectile function comparable to age-matched individuals. They tend to have a lower incidence of premature ejaculation.

  10. [Refeeding syndrome in severely malnourished patient].

    Science.gov (United States)

    Bovin, Ann; Vinter-Jensen, Lars

    2008-11-01

    Refeeding syndrome is a potentially lethal condition observed in severely malnourished patients due to severe shifts in electrolytes during refeeding. We report the refeeding of a severely malnourished 53-year old male with a body mass index (BMI) of 10. Initially refeeding was enteral 25 kCal/kg which had to be replaced by combined enteral and parenteral nutrition. The patient suffered several complications, e.g. severe electrolyte disturbances, oedema of the lung, and infections. The patient was successfully discharged to a recreational facility after three months.

  11. [Cephalometric analysis in patients with Turner syndrome].

    Science.gov (United States)

    Szentkirályi, P; Vitályos, G; Szilágyi, A; Márton, S; Keszthelyi, G; Madléna, M

    2000-12-01

    The aim of the study is to assess the cephalometric values of patients with Turner syndrome and to compare them to those of healthy patients in order to determine the severity of orthodontic anomalies and the possibilities of treatment. For our work the modified Ricketts analysis was used. Significant differences were found between the two groups regarding the B1, B2, P, AB ii angles and in relations of C:R. Early stomatologic treatment seems to be very important in this patient's group to prevent dental, periodontal and temporomandibular disorders.

  12. Restless legs syndrome in patients on hemodialysis

    Directory of Open Access Journals (Sweden)

    Saleh Mohammad Yaser Salman

    2011-01-01

    Full Text Available Restless legs syndrome (RLS is common among dialysis patients, with a reported prevalence of 6-60%. The prevalence of RLS in Syrian patients on hemodialysis (HD is not known. The purpose of this study is to determine the prevalence of RLS in patients on regular HD, and to find the possible correlation between the presence of RLS and demographic, clinical, and biochemical factors. One hundred and twenty-three patients (male/female = 70/53, mean age = 41.95 ± 15.11 years on HD therapy at the Aleppo University Hospital were enrolled into the study. RLS was diagnosed based on criteria established by the International Restless Legs Syn-drome Study Group (IRLSSG. Data procured were compared between patients with and without RLS. Applying the IRLSSG criteria for the diagnosis, RLS was seen in 20.3% of the study pa-tients. No significant difference in age, gender, and intake of nicotine and caffeine was found between patients with and without the RLS. Similarly, there was no difference between the two groups in the duration of end-stage renal disease (ESRD, the period of dialysis dependence, dialysis adequacy, urea and creatinine levels, and the presence of anemia. The co-morbidities and the use of drugs also did not differ in the two groups. Our study suggests that the high prevalence of RLS among patients on HD requires careful attention and correct diagnosis can lead to better therapy and better quality of life. The pathogenesis of RLS is not clear and further studies are required to identify any possible cause as well as to discover the impact of this syndrome on sleep, quality of life, and possibly other complications such as cardiovasculare disease.

  13. Restless legs syndrome in patients on hemodialysis.

    Science.gov (United States)

    Salman, Saleh Mohammad Yaser

    2011-03-01

    Restless legs syndrome (RLS) is common among dialysis patients, with a reported prevalence of 6-60%. The prevalence of RLS in Syrian patients on hemodialysis (HD) is not known. The purpose of this study is to determine the prevalence of RLS in patients on regular HD, and to find the possible correlation between the presence of RLS and demographic, clinical, and biochemical factors. One hundred and twenty-three patients (male/female = 70/53, mean age = 41.95 ± 15.11 years) on HD therapy at the Aleppo University Hospital were enrolled into the study. RLS was diagnosed based on criteria established by the International Restless Legs Syn-drome Study Group (IRLSSG). Data procured were compared between patients with and without RLS. Applying the IRLSSG criteria for the diagnosis, RLS was seen in 20.3% of the study pa-tients. No significant difference in age, gender, and intake of nicotine and caffeine was found between patients with and without the RLS. Similarly, there was no difference between the two groups in the duration of end-stage renal disease (ESRD), the period of dialysis dependence, dialysis adequacy, urea and creatinine levels, and the presence of anemia. The co-morbidities and the use of drugs also did not differ in the two groups. Our study suggests that the high prevalence of RLS among patients on HD requires careful attention and correct diagnosis can lead to better therapy and better quality of life. The pathogenesis of RLS is not clear and further studies are required to identify any possible cause as well as to discover the impact of this syndrome on sleep, quality of life, and possibly other complications such as cardiovasculare disease.

  14. CHD7 mutations in patients initially diagnosed with Kallmann syndrome - the clinical overlap with CHARGE syndrome

    NARCIS (Netherlands)

    Jongmans, M. C. J.; van Ravenswaaij-Arts, C. M. A.; Pitteloud, N.; Ogata, T.; Sato, N.; Claahsen-van der Grinten, H. L.; van der Donk, K.; Seminara, S.; Bergman, J. E. H.; Brunner, H. G.; Crowley, W. F.; Hoefsloot, L. H.

    Kallmann syndrome (KS) is the combination of hypogonadotropic hypogonadism and anosmia or hyposmia, two features that are also frequently present in CHARGE syndrome. CHARGE syndrome is caused by mutations in the CHD7 gene. We performed analysis of CHD7 in 36 patients with KS and 20 patients with

  15. CHD7 mutations in patients initially diagnosed with Kallmann syndrome - the clinical overlap with CHARGE syndrome

    NARCIS (Netherlands)

    Jongmans, M. C. J.; van Ravenswaaij-Arts, C. M. A.; Pitteloud, N.; Ogata, T.; Sato, N.; Claahsen-van der Grinten, H. L.; van der Donk, K.; Seminara, S.; Bergman, J. E. H.; Brunner, H. G.; Crowley, W. F.; Hoefsloot, L. H.

    2009-01-01

    Kallmann syndrome (KS) is the combination of hypogonadotropic hypogonadism and anosmia or hyposmia, two features that are also frequently present in CHARGE syndrome. CHARGE syndrome is caused by mutations in the CHD7 gene. We performed analysis of CHD7 in 36 patients with KS and 20 patients with nor

  16. Hydrology of Hunters Lake, Hernando County, Florida

    Science.gov (United States)

    Henderson, S.E.

    1986-01-01

    The size and shape of Hunters Lake, Florida has been significantly altered by development of the surrounding Spring Hill residential community. The lake is the largest in Hernando County, enlarged by lakeshore excavation and connection to nearby ponds to an area of 360 acres at an average stage of 17.2 ft above sea level. Hunters Lake is naturally a closed lake, but development of Spring Hill has resulted in a surface water outflow from the lake in its southwest corner. Inflow to the lake could occur on the east side during extreme high-water periods. The karst terrain of the Hunters Lake area is internally drained through permeable soils, depressions, and sinkholes, and natural surface drainage is absent. The underlying Floridan aquifer system is unconfined except locally near coastal springs. Flow in the groundwater system is to the west regionally and to the southwest in the immediate area of Hunters Lake. Water level gradients in the groundwater system increase from 1.4 ft/mi east of the lake to about 8 ft/mi southwest of the lake. Hunters Lake is hydraulically connected to the groundwater system, receiving groundwater on the northeast side and losing water to the groundwater system on the southwest side. This close relationship with the groundwater system is demonstrated by graphical and numerical comparison of Hunters Lake stage with water levels in nearby groundwater sites. During 1965-84, the stage of Hunters Lake fluctuated between 12.48 and 20.7 ft above sea level. Because area lakes are all directly affected by groundwater levels, they also show a close relationship with water levels in Hunters Lake. Analysis of water quality data for Hunters Lake indicates that the water of the lake is a soft calcium bicarbonate type with ionic concentrations higher than in water from nearby shallow wells and lower than in water from the Upper Floridan aquifer. Samples collected in 1981-1983 indicate slightly higher levels of ionic concentration than in 1965

  17. Fibromyalgia syndrome in Turkish hemodialysis patients.

    Science.gov (United States)

    Leblebici, Berrin; Özelsancak, Rüya; Yılmaz, Emine Ece; Doruk, Pınar

    2016-01-01

    The aim of our study was to evaluate the frequency of fibromyalgia syndrome (FMS) in hemodialysis (HD) patients and to assess whether this syndrome is associated with gender, age, duration of HD, or various laboratory parameters. This study was composed of 221 chronic HD patients (99 females and 122 males), and we recorded each participant's age, gender, causes of kidney failure, HD duration, education level, and symptoms related to FMS, which was diagnosed according to the 2010 American College of Rheumatology criteria. We documented the laboratory parameters for all patients. In addition, patients with FMS filled out the Fibromyalgia Impact Questionnaire. Twenty-two patients met the diagnostic criteria for FMS (9%), and there were no statistically significant differences related to age, gender, or HD duration between FMS and non-FMS groups (P > 0.05). In addition, the education levels were lower in patients diagnosed with FMS (P  0.05). There was a higher prevalence of FMS in HD patients than in the general population. Sleep disturbances, fatigue, education level, and cognitive symptoms were associated with FMS, but there was no correlation between the laboratory parameters and this condition.

  18. Alagille syndrome: Review of 14 patients

    Directory of Open Access Journals (Sweden)

    Purnamawati S. Pujiarto

    2017-02-01

    Full Text Available Alagille syndrome (AGS Is a common form of familial intrahepatic choleslasis, an autosomal dominant disorder due to defects in Jagged1 gene. It Is characterized by at least 3 of 5 mator features. We reviewed two groups of patients with AGS. Group 1 comprised 12 AGS patients, retrospectively studied (1995-1996, in the Gastroenterology Department, Royal Children's Hospital, Melbourne. Group 2 comprised 2 AGS patients, prospectively studied since 1999, in The Pediatric Hepatology Division, Cipto Mangunkusumo Hospital, Jakarta. Prolonged cholestasis is the most common feature at presentation (12 patients. All these 12 subjects developed pruritus and xanthoma of varying degree. Osteopenia occured in 6 patients, 2 patients experienced fractures. AGS facies was noted In aH 14 subjects. Heart anomaty was found in 10 patients, vertebral anomaly in 6 patients, and posterior embryotoxin in 10 patients. Common additional features were growth and mental retardation in 10 and 8 patients, respectively. Liver biopsy was able to confirm the diagnosis as young as age 2 months. Death occurred in 2 patients due to liver failure and hemorrhagic pneumonia. Liver transplant was done in 1 patient due to poor quality of life (severe pruritus, xanthoma, recurrent fractures. Affected family members were strongly presumed in 8 patients. In conclusion, AGS should be considered in babies with chronic Intrahepatic cholestasls, especially it associated with pruritus. Liver biopsy Is the most sensitive diagnostic testing which will prevent unnecessary surgical intervention due to biliary atresia mimicry.

  19. OTHELLO SYNDROME IN PATIENTS WITH PARKINSON'S DISEASE

    OpenAIRE

    Georgiev, Dejan; Danieli, Aljoša; Ocepek, Lidija; Novak, Dominika; Zupančič-Križnar, Nina; Trošt, Maja; Pirtošek, Zvezdan

    2010-01-01

    Background: Othello syndrome (OS) is an organic delusional disorder with prevailing jealousy symptoms presumably appearing as side effect of antiparkinsonian therapy. The clinical spectrum of psychiatric symptoms in Parkinson's disease (PD) is very wide, including symptoms of depresion and anxiety, hallucinations, delusions, with prevalent paranoid symptoms, agitation, delirium and sleep disorders. At our knowledge, just a few cases of patients with PD and OS were reported till now. ...

  20. Noonan syndrome and Turner syndrome patients respond similarly to 4 years' growth-hormone therapy

    DEFF Research Database (Denmark)

    Lee, Peter A; Ross, Judith L; Pedersen, Birgitte Tønnes

    2015-01-01

    BACKGROUND: Turner syndrome (TS) and Noonan syndrome (NS) are distinct syndromes associated with short stature and other similar phenotypic features. We compared the responses to growth hormone (GH) therapy of TS and NS patients enrolled in the NordiNet® International Outcome Study (IOS) or the A......BACKGROUND: Turner syndrome (TS) and Noonan syndrome (NS) are distinct syndromes associated with short stature and other similar phenotypic features. We compared the responses to growth hormone (GH) therapy of TS and NS patients enrolled in the NordiNet® International Outcome Study (IOS...

  1. Subclinical nephritic syndrome in children cohabiting with pediatric patients, Presenting acute nephritic syndrome

    OpenAIRE

    Guerrero-Tinoco Gustavo Adolfo; Julio-Barrios Emil

    2012-01-01

    Introduction: subclinical nephritic syndrome is the presence of hematuria, hypocomplementemiaand/or proteinuria without the presence of signs and/or symptoms.Objective: to determine the incidence of subclinical nephritic syndrome in childrenliving with pediatric patients diagnosed with acute nephritic syndrome.Methods: family visit to identify children living together in the two previous months, with pediatric patients hospitalized with acute nephritic syndrome, at Hospital InfantilNapoleon F...

  2. Subclinical nephritic syndrome in children cohabiting with pediatric patients, Presenting acute nephritic syndrome

    OpenAIRE

    Guerrero-Tinoco Gustavo Adolfo; Julio-Barrios Emil

    2012-01-01

    Introduction: subclinical nephritic syndrome is the presence of hematuria, hypocomplementemiaand/or proteinuria without the presence of signs and/or symptoms.Objective: to determine the incidence of subclinical nephritic syndrome in childrenliving with pediatric patients diagnosed with acute nephritic syndrome.Methods: family visit to identify children living together in the two previous months, with pediatric patients hospitalized with acute nephritic syndrome, at Hospital InfantilNapoleon F...

  3. Prevalence of Metabolic Syndrome in COPD Patients and Its Consequences

    Science.gov (United States)

    Breyer, Marie-Kathrin; Spruit, Martijn A.; Hanson, Corrine K.; Franssen, Frits M. E.; Vanfleteren, Lowie E. G. W.; Groenen, Miriam T. J.; Bruijnzeel, Piet L. B.; Wouters, Emiel F. M.; Rutten, Erica P. A.

    2014-01-01

    Background The prevalence of metabolic syndrome in COPD patients and its impact on patient related outcomes has been little studied. We evaluated the prevalence of metabolic syndrome and clinical and functional characteristics in patients with COPD and healthy subjects. Methods 228 COPD patients and 156 healthy subjects were included. Metabolic syndrome was defined using criteria of the IDF. In all patients spirometry, body composition, functional exercise performance, and mood and health status were assessed. Groups were stratified for BMI and gender. Results Metabolic syndrome was present in 57% of the COPD patients and 40% of the healthy subjects. After stratification for BMI, presence of metabolic syndrome in patients with a BMI ≥25 kg/m2 was higher than in healthy peers. Patients with metabolic syndrome and a BMI metabolic syndrome. Spirometry, maximal ergometry, mood and health status, and blood gases were not different between those groups. In COPD patients with metabolic syndrome self-reported co-morbidities and medication use were higher than in those without. Conclusion Metabolic syndrome is more prevalent in overweight or obese COPD patients than in BMI matched healthy subjects. Metabolic syndrome did not additionally impact patients' functional outcomes, but did impact the prevalence of co-morbidities. PMID:24950070

  4. [Acquired immunodeficiency syndrome in pediatric patients].

    Science.gov (United States)

    Molina Moguel, J L; Ruiz Illezcas, R; Forsbach Sánchez, S; Carreño Alvarez, S; Picco Díaz, I

    1990-12-01

    The object of this study was to determine how many of the patients treated at the Pediatric Odontology Clinic, a branch of the Maxillo-Facial Surgery Service at the Veinte de Noviembre Regional Hospital, ISSSTE, are VIH-positive of show serious manifestations of Acquired Immuno-Deficiency Syndrome (AIDS). For such purpose, 100 pediatric patients suffering from different systemic or local diseases were evaluated, the most common being hematological alterations. Results evidenced the presence of VIH in the blood of five of the pediatric subjects, all suffering from Hemophilia.

  5. Craniofacial abnormalities among patients with Edwards Syndrome

    Directory of Open Access Journals (Sweden)

    Rafael Fabiano M. Rosa

    2013-09-01

    Full Text Available OBJECTIVE To determine the frequency and types of craniofacial abnormalities observed in patients with trisomy 18 or Edwards syndrome (ES. METHODS This descriptive and retrospective study of a case series included all patients diagnosed with ES in a Clinical Genetics Service of a reference hospital in Southern Brazil from 1975 to 2008. The results of the karyotypic analysis, along with clinical data, were collected from medical records. RESULTS: The sample consisted of 50 patients, of which 66% were female. The median age at first evaluation was 14 days. Regarding the karyotypes, full trisomy of chromosome 18 was the main alteration (90%. Mosaicism was observed in 10%. The main craniofacial abnormalities were: microretrognathia (76%, abnormalities of the ear helix/dysplastic ears (70%, prominent occiput (52%, posteriorly rotated (46% and low set ears (44%, and short palpebral fissures/blepharophimosis (46%. Other uncommon - but relevant - abnormalities included: microtia (18%, orofacial clefts (12%, preauricular tags (10%, facial palsy (4%, encephalocele (4%, absence of external auditory canal (2% and asymmetric face (2%. One patient had an initial suspicion of oculo-auriculo-vertebral spectrum (OAVS or Goldenhar syndrome. CONCLUSIONS: Despite the literature description of a characteristic clinical presentation for ES, craniofacial alterations may be variable among these patients. The OAVS findings in this sample are noteworthy. The association of ES with OAVS has been reported once in the literature.

  6. Neuroleptic malignant syndrome in trauma patient.

    Science.gov (United States)

    Gragnani, Alfredo; Cezillo, Marcus Vinicius Boaretto; Oliveira, Andrea Fernandes; Ferreira, Lydia Masako

    2015-09-01

    In recent years, there has been an increased use of neuroleptic agents in the unit care in trauma patients. There is a lack of prospective data, and most of the information is obtained from related cases. It is needed to have a high index of suspicion with regard to excluding neuroleptic malignant syndrome (NMS) in patients taking neuroleptics and presenting with hyperthermia, because of the potentially fatal consequences. It is a rare syndrome in the burn patient with a lack of proven treatments, and high morbidity and mortality are related. In the actual literature there are few related cases of NMS in the polytrauma patient, particularly in association with psychiatric conditions. In burn NMS is a rare complication with difficult diagnosis, because of the similar symptoms that can occur either in patients in the Burn Unit Care with other fatal conditions that are present in the acute phase response. Actually, there is no marker for the NMS, which difficult the early diagnosis and prognosis. The treatment still is based on case reports, with lack of clinical trials, but remain as standard and universally accepted. Besides that, the neural signaling of the NMS indicates possibilities for better understanding of the pathophysiology treatment protocol.

  7. Acute Respiratory Distress Syndrome in Obstetric Patients

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    S. V. Galushka

    2007-01-01

    Full Text Available Objective: to define the specific features of the course of acute respiratory distress syndrome (ARDS in puer-peras with a complicated postpartum period. Subjects and methods. Sixty-seven puerperas with ARDS were examined. Group 1 included 27 puerperas with postpartum ARDS; Group 2 comprised 10 puerperas who had been treated in an intensive care and died; Group 3 consisted of nonobstetric patients with ARDS of various genesis (a control group. Results. In obstetric patients, the baseline oxygenation index was significantly lower than that in the control group. However, Group 1 patients showed a rapid increase in PaO2/FiO2 on days 3—4 of treatment. In the control group, the changes occurred later — on days 5—6. The baseline alveolar-arterial oxygen difference was significantly higher in the obstetric patients than that in the controls. In Group 1, AaDpO2 drastically decreased on days 3—4, which took place in parallel with an increase in the oxygenation index. At the beginning of the study, pulmonary shunting was high in the group of survivors, deceased, and controls. In Group 1, the shunting decreased on days 3—4 whereas in the control group this index normalized later — only by days 6—7. In Group 1, compliance remained lower throughout the observation, but on day 7 there was a significant difference in this index between the deceased, survivors, and controls. Conclusion. Thus, more severe baseline pulmonary gas exchange abnormalities are observed in obstetric patients than in general surgical and traumatological patients; the oxygenation index, alveolar-arterial oxygen difference, and pulmonary shunting index more rapidly change in patients with severe obstetric disease in its favorable course than in general surgical and traumatological patients; throughout the observation, thoracopulmonary compliance was less in obstetric patients than in the controls. Key words: acute respiratory distress syndrome, puerperium.

  8. Compartment syndrome in patients with haemophilia

    Science.gov (United States)

    Donaldson, James; Goddard, Nicholas

    2015-01-01

    Background Acute compartment syndrome (ACS) is an uncommon but potentially devastating condition. Methods and results There are scattered case reports and case series in the literature of ACS in persons with haemophilia (PWH), and even fewer in PWH and inhibitors. The management of compartment syndrome in these scenarios is controversial and often anecdotal. In addition haematological outcomes are frequently quoted but functional outcomes are generally overlooked. This article aims to provide an overview of ACS and its contemporary management. We also review the literature and outcomes of patients with haemophilia who develop ACS in an effort to assess the best treatment modality. Conclusion In the majority of cases ACS settles with normalisation of the clotting cascade. Specialist haematological input is mandatory before surgical intervention should be considered, especially in PWH and inhibitors. PMID:26566325

  9. Description of patients with carpal tunnel syndrome

    Directory of Open Access Journals (Sweden)

    Aydelián Jevey González

    2015-11-01

    Full Text Available A descriptive study of patients diagnosed with carpal tunnel syndrome was carried out at “Manuel Piti Fajardo” Teaching Polyclinic of Las Tunas, from January to December, 2008. The study was aimed at describing them clinically and epidemiologically. The sample was made up of 50 patients older than 14 years old, who were characterized according to: age, sex, individual pathological antecedents factors associated to the triggering of theirsymptomatology, as well as clinical signs and symptoms. The results were processed using the descriptive statistics by means of percentage analysis. The prevailing results were: female patients, for a 76%; 41 to 50 age group, for a 40%; antecedents of osteoarthrosis, for a 34%. The factor which triggered the onset of the symptoms was the occupation of office worker, for a 46%, while 4 patients (8% came to the consultation office with more than 6 months of symptom evolution.

  10. Orthodontic treatment considerations in Down syndrome patients

    Directory of Open Access Journals (Sweden)

    Sianiwati Goenharto

    2012-03-01

    Full Text Available Background: Down syndrome is an easily recognized congenital disease anomaly, a common autosomal chromosomal anomaly with high prevalence of malocclusion. Orthodontic treatment demand should be high but it seems difficult to be done because of specific condition of disability. Purpose: The purpose of this literature review was to discribe the orthodontic problems found in Down syndrome patients and several consideration that shoud be done to treat them. Reviews: Many studies report the high prevalence of malocclusion among people with Down syndrome. There is a greater frequency of clas III relationship, crossbite, crowding and also open bite. Several problems might appear in the treatment because of dental, medical, mental, and behavioural factor. Conclusion: It is concluded that orthodonic treatment can be performed in Down syndrome patient, although several difficulties may appear. Good consideration in mental, behavior, medical and also dental condition will influence whether the treatment will success or not. Special care and facilities will support the orthodontic treatment.Latar belakang: Sindroma Down adalah suatu kelainan congenital yang mudah dikenali, merupakan kelaian kromosom autosomal yang cukup banyak terjadi, dengan prevalensi maloklusi cukup tinggi. Seharusnya permintaan akan perawatan ortodonti juga tinggi meskipun tampaknya sulit dilakukan karena adanya kondisi ketidakmampuan/cacat yang spesifik. Tujuan: Tujuan studi pustaka ini adalah untuk menggambarkan problem perawatan ortodonti pada penderita sindroma Down dan pertimbangan apa yang sebaiknya diambil untuk mengatasi masalah tersebut. Tinjauan pustaka: Banyak penelitian melaporkan tentang prevalensi maloklusi yang tinggi pada penderita sindroma Down. Maloklusi yang sering dijumpai adalah relasi klas III, gigitan silang, berdesakan dan juga gigitan terbuka. Problem dapat terjadi saat perawatan ortodonti karena adanya faktor dental, medis, mental dan tingkah laku penderita

  11. Quantifying survival in patients with Proteus syndrome.

    Science.gov (United States)

    Sapp, Julie C; Hu, Lian; Zhao, Jean; Gruber, Ashlyn; Schwartz, Brian; Ferrari, Dora; Biesecker Md, Leslie G

    2017-06-29

    PurposeProteus syndrome is a rare mosaic overgrowth disorder that is associated with severe complications. While anecdotal data have suggested that the life span of affected patients is reduced, this has not been measured. Mortality data on rare diseases is critical for assessing treatments and other interventions.MethodsTo address this we used the clinical research records of 64 patients in a longitudinal natural history cohort at the National Institutes of Health to ascertain the data in an organized manner and estimate survival using a Kaplan-Meier approach.ResultsThe median age of diagnosis was 19 months. Based on this analysis, there was 25% probability of death by 22 years of age. Ten of the 11 patients who died were younger than 22 years of age, and there was only a single death after this age.ConclusionThese data quantify the risk of premature death in Proteus syndrome, which can be used to support interventions and trials. Although the risk of death is substantial, the fact that only one patient died after 22 years of age supports anecdotal evidence that the disease process moderates after the end of adolescence. Interventions to reduce mortality should be targeted to the pediatric age range.GENETICS in MEDICINE advance online publication, 29 June 2017; doi:10.1038/gim.2017.65.

  12. Perioperative approach of patient with takotsubo syndrome

    Directory of Open Access Journals (Sweden)

    Joana Barros

    Full Text Available Abstract Introduction: Takotsubo cardiomyopathy (TCM is a stress-induced cardiomyopathy. It is characterized by an acute onset of symptoms and electrocardiographic abnormalities mimicking an acute coronary syndrome in the absence of obstructive coronary artery disease. Any anesthetic-surgical event corresponds to a stressful situation, so the anesthetic management of patients with TCM requires special care throughout the perioperative period. We describe the anesthetic management of a patient with a confirmed diagnosis of TCM undergoing segmental colectomy. Case report: Female patient, 55 years old, ASA III, with history of takotsubo syndrome diagnosed 2 years ago, scheduled for segmental colectomy. The patient, without other changes in preoperative evaluation, underwent general anesthesia associated with lumbar epidural and remained hemodynamically stable during the 2 h of surgery. After a brief stay in the Post-Anesthesia Care Unit, she was transferred to the Intermediate Care Unit (IMCU, with epidural analgesia for postoperative period. Conclusion: TCM is a rare disease which true pathophysiology remains unclear, as well as the most appropriate anesthetic-surgical strategy. In this case, through a preventive approach, with close monitoring and the lowest possible stimulus, all the perioperative period was uneventful. Because it is a rare disease, this report could help to raise awareness about TCM.

  13. West syndrome in a patient with Schinzel-Giedion syndrome.

    Science.gov (United States)

    Miyake, Fuyu; Kuroda, Yukiko; Naruto, Takuya; Ohashi, Ikuko; Takano, Kyoko; Kurosawa, Kenji

    2015-06-01

    Schinzel-Giedion syndrome is a rare recognizable malformation syndrome defined by characteristic facial features, profound developmental delay, severe growth failure, and multiple congenital anomalies. The causative gene of Schinzel-Giedion syndrome, SETBP1, has been identified, but limited cases have been confirmed by molecular analysis. We present a 9-month-old girl affected by West syndrome with Schinzel-Giedion syndrome. Congenital severe hydronephrosis, typical facial features, and multiple anomalies suggested a clinical diagnosis of Schinzel-Giedion syndrome. Hypsarrhythmia occurred at 7 months of age and was temporarily controlled by adrenocorticotropic hormone (ACTH) therapy during 5 weeks. SETBP1 mutational analysis showed the presence of a recurrent mutation, p.Ile871Thr. The implications in management of Schinzel-Giedion syndrome are discussed.

  14. Motivations of female Black Hills deer hunters

    Science.gov (United States)

    Gigliotti, Larry M.; Covelli Metcalf, Elizabeth

    2016-01-01

    State fish and wildlife agencies are particularly interested in attracting female participation because of the potential to offset declining participation in hunting. Understanding female hunters’ motivations will be critical for designing effective recruitment and retention programs for women hunters. Although female participation in hunting is increasing, males still outnumber females by about tenfold. Gender differences in deer hunters were explored by comparing ratings of eight motivations (social, nature, excitement, meat, challenge, trophy, extra hunting opportunity, and solitude). Hunter types were defined by hunters’ selection of the most important motivation for why they like Black Hills deer hunting. Overall, females and males were relatively similar in their ratings of the eight motivations, and we found 85% gender similarity in the selection of the most important motivation. Women were slightly more motivated by the food aspect of the hunt while men placed slightly more value on the hunt as a sporting activity.

  15. Thalidomide in Treating Patients With Myelodysplastic Syndrome

    Science.gov (United States)

    2013-01-23

    Chronic Myelomonocytic Leukemia; de Novo Myelodysplastic Syndromes; Previously Treated Myelodysplastic Syndromes; Refractory Anemia; Refractory Anemia With Excess Blasts; Refractory Anemia With Excess Blasts in Transformation; Refractory Anemia With Ringed Sideroblasts; Secondary Myelodysplastic Syndromes

  16. Pourfour du Petit Syndrome in a Patient with Thyroid Carcinoma

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    Sergi Martinez-Ramirez

    2010-07-01

    Full Text Available The clinical presentation of Pourfour du Petit syndrome (PdPs is the opposite of Horner syndrome. Although all disorders underlying Horner syndrome may potentially present as PdPs, very few cases of the latter have been described in the literature. We report a patient with PdPs due to carotid compression by a thyroid tumor.

  17. LANGUAGE DISORDERS IN PATIENTS WITH DOWN SYNDROME

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    Bajo-Santos C

    2011-06-01

    Full Text Available Introduction: Language and communication are key to the social and personal development of children affected by Down Syndrome. In addition to the characteristic phenotype, muscle hypotonia and different degrees of mental disability, other diseases may be associated. Oral language is naturally acquired. For this activity there are two requirements: potential brain devices (auditory and visual and social stimulus existence; being the linguistic affectation variable among individuals. Material and Methods: A detailed report of four cases taken from Phoniatrics Section of the Hospital Virgen Concha de Zamora, evaluated over several years is presented. Discussion and conclusion: Down syndrome patients find difficulties to process the information received. Moderate or even mild hearing loss will influence the phonology and speech production. Language development in these children is slowered. Languageunderstanding is less limited than expression which is usually poor, simplified and with limited vocabulary because of their cognitive difficulties, motor orofacial level and the different characteristics that are associated to this syndrome, but it can become functional. Communication skills are strengthened by the gesture. Learning is greatly hampered by attentional disorders. Early childhood intervention and speech therapy are essential in these cases.

  18. Acute coronary syndromes in patients with HIV

    Science.gov (United States)

    Seecheran, Valmiki K.; Giddings, Stanley L.

    2017-01-01

    Highly active antiretroviral treatment (HAART) has considerably increased the life expectancy of patients infected with HIV. Coronary artery disease is a leading cause of mortality in patients infected with HIV. This is primarily attributed to their increased survival, HAART-induced metabolic derangements, and to HIV itself. The pathophysiology of atherosclerosis in HIV is both multifactorial and complex – involving direct endothelial injury and dysfunction, hypercoagulability, and a significant contribution from traditional cardiac risk factors. The advent of HAART has since heralded a remarkable improvement in outcomes, but at the expense of other unforeseen issues. It is thus of paramount importance to swiftly recognize and manage acute coronary syndromes in HIV-infected patients to attenuate adverse complications, which should translate into improved clinical outcomes. PMID:27845996

  19. The Hunter pulmonary angiography catheter for a brachiocephalic vein approach.

    Science.gov (United States)

    Rosen, Galia; Kowalik, Karen J; Ganguli, Suverano; Hunter, David W

    2006-01-01

    The purpose of this work was to describe our experience in performing pulmonary angiography using the Hunter pulmonary catheter, manufactured by Cook, Inc., which is a modified 6F pigtail catheter with a "C-shaped" curve, designed for a brachiocephalic vein approach. One hundred twenty-three patients underwent pulmonary angiograms using the Hunter catheter between August 1997 and January 2002. Operator comments were gathered in 86 (70%) of the cases. The operator was, if possible, the most junior resident on the service. Thirty-nine operators participated in the survey. Efficacy, safety, and ease of use of the catheter were determined by operators' comments and ECG observations during the procedure. Corroborating clinical data were gathered from medical records. In 68 (79%) of the procedures that were commented upon, the operator described insertion into the pulmonary artery (PA) as easy; only 2 (2%) indicated difficulty in accessing the PA. In 41 (63%) of the bilateral angiograms that were commented upon, the operator described accessing the left PA from the right PA as easy; only 6 (9%) rated it as difficult and all were with an older technique in which the catheter was withdrawn to the pulmonary bifurcation without a wire or with only the soft tip of the wire in the pigtail and then rotated to the left main pulmonary artery. Thirty-one of the 41 patients who demonstrated premature ventricular contractions (PVCs) had a previous history of heart disease. Nineteen of the 39 patients who did not have PVCs had a history of heart disease (p = 0.018). The maneuverability and shape of the Hunter catheter make pulmonary angiography an easy procedure, even for operators with minimal experience and limited technical proficiency. PVCs demonstrated a statistically significant correlation with a positive patient history for cardiac disease, rather than being a universal risk.

  20. Down patients with Eisenmenger syndrome : Is bosentan treatment an option?

    NARCIS (Netherlands)

    Duffels, Marielle G. J.; Vis, Jeroen C.; van Loon, Rosa L. E.; Berger, Rolf M. F.; Hoendermis, Elke S.; van Dijk, Arie P. J.; Bouma, Berto J.; Mulder, Barbara J. M.

    2009-01-01

    Background: Favorable results of treatment with bosentan in patients with Eisenmenger syndrome are available. However, data in Down patients are lacking. In this study, we evaluate the therapeutic role of bosentan treatment in Down patients with Eisenmenger syndrome. Methods: In this open-label

  1. Clinical Characteristics of Dry Eye Patients With Chronic Pain Syndromes

    NARCIS (Netherlands)

    Vehof, Jelle; Smitt-Kamminga, Nicole Sillevis; Kozareva, Diana; Nibourg, Simone A.; Hammond, Christopher J.

    2016-01-01

    PURPOSE: To investigate clinical characteristics of dry eye disease (DED) patients with a chronic pain syndrome. DESIGN: Cross-sectional. study. METHODS: Four hundred twenty-five patients of a tertiary care DED patient cohort in the Netherlands were included. Chronic pain syndromes irritable bowel s

  2. Down patients with Eisenmenger syndrome : Is bosentan treatment an option?

    NARCIS (Netherlands)

    Duffels, Marielle G. J.; Vis, Jeroen C.; van Loon, Rosa L. E.; Berger, Rolf M. F.; Hoendermis, Elke S.; van Dijk, Arie P. J.; Bouma, Berto J.; Mulder, Barbara J. M.

    2009-01-01

    Background: Favorable results of treatment with bosentan in patients with Eisenmenger syndrome are available. However, data in Down patients are lacking. In this study, we evaluate the therapeutic role of bosentan treatment in Down patients with Eisenmenger syndrome. Methods: In this open-label stud

  3. Renal abnormalities in patients with Kallmann syndrome.

    Science.gov (United States)

    Zenteno, J C; Méndez, J P; Maya-Núñez, G; Ulloa-Aguirre, A; Kofman-Alfaro, S

    1999-03-01

    To report experience in patients with Kallmann syndrome (KS) in whom urography was used to establish the type and frequency of renal anomalies associated with the disorder. Of 19 patients with KS, 15 had the X-linked recessive form of the disease, whereas the remaining four were sporadic. Each patient underwent intravenous pyelography (IVP) using a non-ionic, low osmolarity contrast medium. Of the 19 patients with KS, 10 had kidney abnormalities; four presented with unilateral renal agenesis and six had less severe forms of renal abnormality (renal malrotation in four and bilateral dilatation of the calyces and pelves in two). One of the patients with unilateral renal agenesis carried a deletion in KAL, the gene responsible for the X-linked type of KS. Three of the four patients with renal malrotation had a confirmed X-linked recessive form and one carried a point mutation in KAL. These results suggest that kidney abnormalities are more frequent and diverse in patients with KS than previously reported. They also indicate that defects in the KAL gene may contribute to abnormal renal development. However, a review of the literature revealed no close correlation between KAL mutations and kidney anomalies in the X-linked type of disease. Taken together, these data suggest that KAL mutations are not invariably associated with failure of renal development and that additional factors (epigenetic or local) may compensate for defects in the KAL protein.

  4. Hypomagnesemia in short bowel syndrome patients

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    Simone Chaves Miranda

    2000-11-01

    Full Text Available CONTEXT: Magnesium support to small bowel resection patients. OBJECTIVE: Incidence and treatment of hypomagnesemia in patients with extensive small bowel resection. DESIGN: Retrospective study. SETTING: Metabolic Unit of the University Hospital Medical School of Ribeirão Preto, University of São Paulo, Brazil. PATIENTS: Fifteen patients with extensive small bowel resection who developed short bowel syndrome. MAIN MEASUREMENTS: Serum magnesium control of patients with bowel resection. Replacement of magnesium when low values were found. RESULTS: Initial serum magnesium values were obtained 21 to 180 days after surgery. Hypomagnesemia [serum magnesium below 1.5 mEq/l (SD 0.43] was detected in 40% of the patients [1,19 mEq/l (SD 0.22]. During the follow-up period, 66% of the patients presented at least two values below reference (1.50 mEq/l. 40% increased their serum values after magnesium therapy. CONCLUSION: Metabolic control of serum magnesium should be followed up after extensive small bowel resection. Hypomagnesemia may be found and should be controlled.

  5. Irritable Bowel Syndrome in a Population of African Patients

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    Sylvester Chuks Nwokediuko

    2012-01-01

    Full Text Available Background. Functional dyspepsia is the prototype functional gastrointestinal disorder. This study was designed to determine its prevalence, subtypes, and risk factors associated with the subtypes. Method. Patients with upper gastrointestinal symptoms who presented for endoscopy were administered a questionnaire containing the functional dyspepsia and irritable bowel syndrome modules of the Rome III diagnostic criteria. Results. Of 192 patients who had functional dyspepsia, epigastric pain syndrome, postprandial distress syndrome, and combination of the two subtypes accounted for 79.2%, 62.5%, and 50%, respectively. Multivariate analysis of the risk factors showed that independent predictors of postprandial distress syndrome were alcohol and irritable bowel syndrome while irritable bowel syndrome was independent predictor of epigastric pain syndrome. Alcohol, smoking, and use of nonsteroidal anti-inflammatory drugs were independent predictors of cooccurrence of postprandial distress syndrome and epigastric pain syndrome. Conclusion. Functional dyspepsia accounts for 62.5% of dyspepsia in a population of black African patients. Regarding symptomatology, epigastric pain syndrome, postprandial distress syndrome, and combination of the two subtypes account for 79.2%, 62.5%, and 50%, respectively. Risk factors for functional dyspepsia are irritable bowel syndrome, alcohol, smoking, and use of nonsteroidal anti-inflammatory drugs.

  6. Promoting Interest in Plant Biology with Biographies of Plant Hunters.

    Science.gov (United States)

    Daisey, Peggy

    1996-01-01

    Describes the use of biographical stories to promote student interest in plant biology. Discusses plant hunters of various time periods, including ancient, middle ages, renaissance, colonial Americas, and 18th and 19th centuries; women plant hunters of the 1800s and early 1900s; and modern plant hunters. Discusses classroom strategies for the…

  7. 32 CFR 636.10 - Hunter Army Airfield vehicle registration.

    Science.gov (United States)

    2010-07-01

    ... 32 National Defense 4 2010-07-01 2010-07-01 true Hunter Army Airfield vehicle registration. 636.10... Stewart, Georgia § 636.10 Hunter Army Airfield vehicle registration. Personnel assigned or employed at Hunter Army Airfield are required to register their privately owned vehicles within five days...

  8. Restless legs syndrome in hemodialysis patients

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    Shahram Rafie

    2016-01-01

    Full Text Available Restless legs syndrome (RLS is a neurological disorder characterized by uncomfortable sensation of paresthesia in legs that subsequently causes involuntary and continuous movement of the lower limbs, especially at rest. Its prevalence in hemodialysis is more than that in the general population. Different risk factors have been suggested for RLS. We studied the prevalence and risk factors of RLS in 137 hemodialysis patients followed up at our center. The patients completed at least three months on dialysis and fulfilled four criteria for the diagnosis of RLS. We compared the patients with and without RLS, and the odds ratios (ORs were estimated by the logistic regression models. The prevalence of RLS was 36.5% in the study patients. Among the variables, diabetes was the only predicting factor for the development of RLS. The diabetic patients may be afflicted with RLS 2.25 times more than the non-diabetics. Women developed severe RLS 5.23 times more than men. Neurodegeneration, decrease in dopamine level, higher total oxidant status, and neuropathy in diabetic patients may explain the RLS symptoms.

  9. Restless legs syndrome in hemodialysis patients.

    Science.gov (United States)

    Rafie, Shahram; Jafari, Majid; Azizi, Mostafa; Bahadoram, Mohammad; Jafari, Shima

    2016-03-01

    Restless legs syndrome (RLS) is a neurological disorder characterized by uncomfortable sensation of paresthesia in legs that subsequently causes involuntary and continuous movement of the lower limbs, especially at rest. Its prevalence in hemodialysis is more than that in the general population. Different risk factors have been suggested for RLS. We studied the prevalence and risk factors of RLS in 137 hemodialysis patients followed up at our center. The patients completed at least three months on dialysis and fulfilled four criteria for the diagnosis of RLS. We compared the patients with and without RLS, and the odds ratios (ORs) were estimated by the logistic regression models. The prevalence of RLS was 36.5% in the study patients. Among the variables, diabetes was the only predicting factor for the development of RLS. The diabetic patients may be afflicted with RLS 2.25 times more than the non-diabetics. Women developed severe RLS 5.23 times more than men. Neurodegeneration, decrease in dopamine level, higher total oxidant status, and neuropathy in diabetic patients may explain the RLS symptoms.

  10. Native grasses for rehabilitating Hunter Valley minesites

    Energy Technology Data Exchange (ETDEWEB)

    Huxtable, C. [NSW Department of Land and Water Conservation, NSW (Australia)

    1998-04-01

    Introduced plant species, particularly grasses, have long been used to rehabilitate mined land in Australia. Interest in using native species spawned a research project in the Hunter Valley which has demonstrated the suitability of certain native species for rehabilitation and put forward guidelines to enhance the chance of their successful establishment. 4 photos., 1 tab.

  11. Hunters Try to Capture Their Past

    Institute of Scientific and Technical Information of China (English)

    China Daily

    2012-01-01

    Mo Guizhen was 5 when she saw a real bed for the first time.She refused to sleep on it,accustomed as she was to deer furs laid on the ground of hunters' huts in the depths of the Greater Hinggan Mountains in northeastern China.

  12. Superior vena cava syndrome in hemodialysis patient

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    Azeb Molhem

    2011-01-01

    Full Text Available Obstruction of blood flow in the superior vena cava (SVC results in symptoms and signs of SVC syndrome. SVC obstruction can be caused either by invasion or external compression of the SVC by contagious pathologic processes involving the right lung, lymph nodes, and other mediastinal structures, or by thrombosis of blood within the SVC. Occasionally, both mechanisms co-exist. We hereby report a case of a 28-year-old male, Saudi patient who was diagnosed with end-stage renal disease and was maintained on regular hemodiaysis via right jugular vein dual lumen catheter for ten months. Three years later, the patient presented with signs and symptoms suggestive of SVC obstruction that was successfully managed with SVC stenting.

  13. Neuroleptic malignant syndrome and serotonin syndrome in a female patient: a clinicopathologic case.

    Science.gov (United States)

    Gómez-Esteban, Juan Carlos; Barcena, Joseba; Forcadas, Maribel; Somme, Johanne; Agundez, Marta; Tijero, Beatriz; Zarranz, Juan J

    2009-01-01

    We report the case of a 24-year-old female patient who initially developed a neuroleptic malignant syndrome after haloperidol exposure and experienced 6 years later a serotonin syndrome after repeated fluoxetine exposure. The patient did not respond to symptomatic treatment and died in this latter episode. At necropsy, no gross or microscopic changes were seen with conventional histological stains, and immunohistochemical stains were negative. This is the first clinicopathologic case of a patient who experienced both neuroleptic malignant and serotonin syndromes. We speculate that this case argue in favor that both syndromes share some fundamental pathogenetic mechanisms.

  14. Cotard Syndrome without Depressive Symptoms in a Schizophrenic Patient.

    Science.gov (United States)

    Morgado, Pedro; Ribeiro, Ricardo; Cerqueira, João J

    2015-01-01

    Introduction. Cotard syndrome is a rare condition characterized by nihilistic delusions concerning body or life that can be found in several neuropsychiatry conditions. It is typically associated with depressive symptoms. Method. We present a case of Cotard syndrome without depressive symptoms in the context of known paranoid schizophrenia. A literature review of Cotard syndrome in schizophrenia was performed. Results. Although there are few descriptions of this syndrome in schizophrenia, patients usually present depressive mood and psychomotor retardation, features not seen in our patient. Loss of the sense of the inner self, present in schizophrenia, could explain patient's symptomatology but neurobiological bases of this syndrome remain unclear. Conclusion. Despite not being considered in actual classifications, Cotard syndrome is still relevant and psychiatric evaluation is critical to diagnosing and treating this condition in psychiatric patients.

  15. Musculo-skeletal abnormalities in patients with Marfan syndrome.

    Science.gov (United States)

    Al Kaissi, Ali; Zwettler, Elisabeth; Ganger, Rudolf; Schreiner, Simone; Klaushofer, Klaus; Grill, Franz

    2013-01-01

    A leptosomic body type is tall and thin with long hands. Marfanoid features may be familial in nature or pathological, as occurs in congenital contractual arachnodactyly (Beal's syndrome) and Shprintzen-Goldberg syndrome mimicking some of the changes of Marfan syndrome, although not accompanied by luxation of lens and dissecting aneurysm of aorta. In this article we collected eight patients who were consistent with the diagnosis of Marfan syndrome via phenotypic and genotypic characterization. Our patients manifested a constellation of variable presentations of musculo-skeletal abnormalities ranging from developmental dysplasia of the hip, protrusio acetabuli, leg length inequality, patellar instability, scoliosis, to early onset osteoarthritis. Each abnormality has been treated accordingly. This is the first paper which includes the diagnosis and the management of the associated musculo-skeletal abnormalities in patients with Marfan syndrome, stressing that patients with Marfan syndrome are exhibiting great variability in the natural history and the severity of musculo-skeletal abnormalities.

  16. Epilepsy in patients with Angelman syndrome

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    Fiumara Agata

    2010-04-01

    Full Text Available Abstract Angelman syndrome (AS is a neuro-behavioural, genetically determined condition, characterized by ataxic jerky movements, happy sociable disposition and unprovoked bouts of laughter in association with seizures, learning disabilities and language impairment. Most of the cases are hardly diagnosed during infancy as jerky movements, the cardinal sign, appear later in childhood. AS is caused by a variety of genetic mechanisms involving the 15q 11-13 chromosome. About 70% of cases are due to a "de novo" interstitial deletion in the long arm region, arising on the maternally inherited chromosome. The diagnosis is confirmed by methylation test or by mutation analysis of UBE3A gene. The deletion phenotype is generally linked to a more severe clinical picture in that 95% of patients manifest more severe seizures, severe mental and motor retardation, dysmorphic features and microcephaly. The pathogenesis of epilepsy in AS is still not fully understood. The presence in the commonly deleted region of a cluster of genes coding for 3 subunits of the GABAa receptor complex has lead to the hypothesis that GABA neurotransmission is involved. Epilepsy, often severe and hard to control, is present in 85% of patients within the first three years of life, although less than 25% develop seizures during the first year. It was observed that febrile seizures often precede the diagnosis. Most frequent types are atypical absences, generalized tonic-clonic, atonic or myoclonic seizures, with multiple seizure types occurring in 50% of deleted patients. There is still some doubt about the association with West syndrome. The EEG abnormalities are not themselves pathognomonic of AS and both background activity and epileptic discharges vary even in the same patient with time. Nevertheless, the existence of some suggestive patterns should facilitate the early diagnosis allowing the correct genetic counselling for the family. Some drugs seems to act better than others

  17. Epilepsy in patients with Angelman syndrome.

    Science.gov (United States)

    Fiumara, Agata; Pittalà, Annarita; Cocuzza, Mariadonatella; Sorge, Giovanni

    2010-04-16

    Angelman syndrome (AS) is a neuro-behavioural, genetically determined condition, characterized by ataxic jerky movements, happy sociable disposition and unprovoked bouts of laughter in association with seizures, learning disabilities and language impairment. Most of the cases are hardly diagnosed during infancy as jerky movements, the cardinal sign, appear later in childhood. AS is caused by a variety of genetic mechanisms involving the 15q 11-13 chromosome. About 70% of cases are due to a "de novo" interstitial deletion in the long arm region, arising on the maternally inherited chromosome. The diagnosis is confirmed by methylation test or by mutation analysis of UBE3A gene. The deletion phenotype is generally linked to a more severe clinical picture in that 95% of patients manifest more severe seizures, severe mental and motor retardation, dysmorphic features and microcephaly.The pathogenesis of epilepsy in AS is still not fully understood. The presence in the commonly deleted region of a cluster of genes coding for 3 subunits of the GABAa receptor complex has lead to the hypothesis that GABA neurotransmission is involved. Epilepsy, often severe and hard to control, is present in 85% of patients within the first three years of life, although less than 25% develop seizures during the first year. It was observed that febrile seizures often precede the diagnosis. Most frequent types are atypical absences, generalized tonic-clonic, atonic or myoclonic seizures, with multiple seizure types occurring in 50% of deleted patients. There is still some doubt about the association with West syndrome. The EEG abnormalities are not themselves pathognomonic of AS and both background activity and epileptic discharges vary even in the same patient with time. Nevertheless, the existence of some suggestive patterns should facilitate the early diagnosis allowing the correct genetic counselling for the family. Some drugs seems to act better than others, Valproate, ethosuximide and

  18. Multiple anesthetics for a patient with stiff-person syndrome.

    Science.gov (United States)

    Cassavaugh, Jessica M; Oravitz, Todd M

    2016-06-01

    Stiff-person syndrome is a progressive disease of muscle rigidity and spasticity due to a deficiency in the production of γ-aminobutyric acid. Because of the rarity of the condition, little is known about effects of anesthesia on patients with stiff-person syndrome. This report describes the clinical course for a single patient with stiff-person syndrome who received general anesthesia on 3 separate occasions. Her anesthetics included use of both neuromuscular blockade and volatile agents. Unlike several previous reports regarding anesthesia and stiff-person syndrome, the postoperative period for this patient did not require prolonged intubation or result in any residual weakness.

  19. Cochlear hearing loss in patients with Laron syndrome.

    Science.gov (United States)

    Attias, Joseph; Zarchi, Omer; Nageris, Ben I; Laron, Zvi

    2012-02-01

    The aim of this prospective clinical study was to test auditory function in patients with Laron syndrome, either untreated or treated with insulin-like growth factor I (IGF-I). The study group consisted of 11 patients with Laron syndrome: 5 untreated adults, 5 children and young adults treated with replacement IGF-I starting at bone age Laron syndrome and may be prevented by starting treatment with IGF-I at an early developmental age.

  20. Neurological manifestations in patients with antiphospholipid syndrome.

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    Masoud Etemadifar

    2013-12-01

    Full Text Available Anti-phospholipids syndrome (APS is considered a non inflammatory auto-immune disease with a significant thrombophilic risk with varied clinical manifestations. The purpose of the current study was to investigate the frequency of thrombotic and non-thrombotic events in patients with APS.In this retrospective study, 102 definite APS subjects were recruited (2007-2011 at Alzahra Hospital, Isfahan, Iran. The patients were referred to Multiple Sclerosis Clinic with the diagnosis of definite APS according to 2006 Sydney's criteria. Disorders associated with APS such as pregnancy complication, vascular thrombosis and livedo reticularis (LR were assessed. Neurological signs and symptoms such as cognitive dysfunction were recorded. Data analyses were performed using SPSS software and P < 0.05 were considered to be statistically significant.Our findings showed that majority of female gender, higher rate of ischemic thrombotic stroke and high miscarriage lied in a large number of APS patients.Overall recurrent miscarriage is a common complication among (antiphospholidpid antibody aPL patients. Furthermore, ischemic stroke is the second common neurological manifestations of APS patients.

  1. [Hypertrophic obstructive cardiomyopathy in a patient with Turner syndrome].

    Science.gov (United States)

    Conte, M R; Bonfiglio, G; Orzan, F; Mangiardi, L; Camaschella, C; Alfarano, A; Brusca, A

    1995-12-01

    A case of hypertrophic obstructive cardiomyopathy in a patient with Turner syndrome is reported. The most frequently associated cardiac anomalies are coarctation of the aorta and bicuspid aortic valve. Hypertrophic cardiomyopathy has never been reported in this syndrome but is frequent in Noonan syndrome. In these two conditions the phenotype may be indistinguishable but the cariotype is different: normal in Noonan and 45X in Turner syndrome. Our patient had the typical somatic features, and the cariotype was 45X in all examined cells. A familial form of hypertrophic cardiomyopathy was excluded by the normal clinical examination of other members of the family. The presence of hypertrophic cardiomyopathy also in Turner syndrome and the recent localization on the long arm of the chromosome 12 of the gene for Noonan syndrome might postulate a common pathogenesis of the two syndromes.

  2. SYNDROME X IN ACUTE CORONARY SYNDROME PATIENTS- A TERTIARY CARE CENTER STUDY

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    Yogendra

    2015-12-01

    Full Text Available Metabolic Syndrome (MS or insulin resistance syndrome is commonly defined as a group of risk factors or abnormalities associated with insulin resistance that markedly increased risk for both coronary heart disease and diabetes. Cardiovascular disease and all-cause mortality, even in the absence of baseline CVD and diabetes. Early identification, treatment and prevention of the metabolic syndrome present a major challenge for health care professionals facing an epidemic of overweight and sedentary lifestyle. AIMS AND OBJECTIVES To study the prevalence of metabolic syndrome in pts. with Acute Coronary Syndrome (ACS and its effect on hospital outcomes. MATERIALS AND METHODS Observational study in 55 cases (28 cases and 27 controls was conducted in Dr. BRAMH, Raipur and each patient was assessed with detailed clinical history and was also assessed for parameters of MS. The cases and controls were also followed up during their hospital stay for the presence of or development of heart failure, arrhythmias, shock and death. Chi square and ‘t’ test were used to analyse obtained data. RESULTS AND CONCLUSIONS In the present study sex ratio amongst the cases was (M:F 1.15:1 and 2.6:1 in controls. Maximum patients were between the ages of 50-60. Non-ST elevation MI was more common in patients with metabolic syndrome and they presented late to the hospital for treatment. Hypertension and fasting hyperglycemia are the most prevalent components of metabolic syndrome in patients of acute coronary syndrome. Our Study also suggests that hypertriglyceridemia is the most common lipid abnormality in patients of acute coronary syndrome. An increase in the incidence of heart failure was observed in patients with metabolic syndrome Cardiogenic shock is seen with increased frequency in patients with metabolic syndrome. Case fatalities were seen with equal frequency in both the groups, hence metabolic syndrome is not associated with increased case fatality while

  3. Systemic transthyretin amyloidosis in a patient with bent spine syndrome.

    Science.gov (United States)

    Rezania, Kourosh; Pytel, Peter; Smit, Laurel J; Mastrianni, James; Dina, Michelle A; Highsmith, W Edward; Dogan, Ahmet

    2013-06-01

    Wild-type and mutant transthyretin (TTR) are implicated in systemic amyloidosis (ATTR). Myopathy is a rare complication of ATTR amyloidosis, however no patient with bent spine syndrome secondary to ATTR amyloidosis has been reported so far. We present the first case of bent spine syndrome in a patient with wild-type ATTR amyloidosis who also had concomitant Alzheimer's disease.

  4. Increased Risk of Myofascial Pain Syndrome Among Patients with Insomnia.

    Science.gov (United States)

    Lin, Wei-Chen; Shen, Cheng-Che; Tsai, Shih-Jen; Yang, Albert C

    2017-08-01

    The aim of this study is to evaluate the risk of developing myofascial pain syndrome among patients diagnosed with insomnia. We conducted a population-based longitudinal study of a matched cohort with 7,895 participants (1,579 patients with insomnia and 6,316 controls) who were selected from the Taiwan National Health Insurance Research Database. The patients were observed for a maximum of 10 years to determine the incidence of newly diagnosed myofascial pain syndrome. A Cox regression analysis was performed to identify the risk factors associated with myofascial pain syndrome in patients with insomnia. During the 10-year follow-up period, 182 insomnia patients (14.9 per 1,000 person-years) and 379 controls (7.5 per 1,000 person-years) were diagnosed with myofascial pain syndrome. The incidence risk ratio of myofascial pain syndrome between the insomnia and control patients was 2.00 (95% confidence interval [CI] = 1.67-2.38, P  myofascial pain syndrome (95% CI = 1.62-2.31, P  myofascial pain syndrome in patients with insomnia. Patients with insomnia had a higher risk of developing myofascial pain syndrome than controls. This study adds to the understanding of the complex relationship between sleep disturbance and pain.

  5. Adropin Levels in Polycystic Ovary Syndrome Patients

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    Hacer Sen

    2017-01-01

    Full Text Available Aim: Polycystic ovary syndrome (PCOS is one of the most commonly observed endocrinopathies in women of reproductive age. Women with PCOS are said to have increased classic risk factors for cardiovascular disease, hypertension, dyslipidemia, diabetes, and obesity, in addition to non-classic risk factors such as an increase in C-reactive protein (CRP, homocysteine, and tumor necrosis factor-%u03B1. Adropin is a protein thought to play a role in maintaining energy homeostasis and insulin response. The aim of our study is to investigate the relationship between levels of adropin and insulin resistance in PCOS patients with insulin resistance and an increased risk of diabetes.Material and Method: Fifty-seven female patients (30 patients with PCOS and 27 healthy control subjects were enrolled in this study. All patient%u2019s body mass index and insulin resistance were calculated. The adropin levels were measured using commercial kits based on a competitive plasma EIA (enzyme immunoassay method. Results: The adropin levels in the patient group were 10.79 ng/L, while the value was 13.02 ng/L in the control group, and the difference was statistically significant (p=0.04. There was a significant negative correlation between the adropin levels and the insulin, aspartate aminotransferase (AST, triglyseride (TG, and homeostasis model assessment of insulin resistance (HOMA-IR levels (p=0.03, p=0.03, p=0.04, and p=0.02, respectively. Discussion: In our study, the adropin level which is associated with insulin resistance, was found to be decreased in patients with PCOS. We think that it would be valuable to conduct new studies for the evaluation of adropin related clinical conditions leading to insulin resistance in patients with PCOS.

  6. Cotard Syndrome without Depressive Symptoms in a Schizophrenic Patient

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    Pedro Morgado

    2015-01-01

    Full Text Available Introduction. Cotard syndrome is a rare condition characterized by nihilistic delusions concerning body or life that can be found in several neuropsychiatry conditions. It is typically associated with depressive symptoms. Method. We present a case of Cotard syndrome without depressive symptoms in the context of known paranoid schizophrenia. A literature review of Cotard syndrome in schizophrenia was performed. Results. Although there are few descriptions of this syndrome in schizophrenia, patients usually present depressive mood and psychomotor retardation, features not seen in our patient. Loss of the sense of the inner self, present in schizophrenia, could explain patient’s symptomatology but neurobiological bases of this syndrome remain unclear. Conclusion. Despite not being considered in actual classifications, Cotard syndrome is still relevant and psychiatric evaluation is critical to diagnosing and treating this condition in psychiatric patients.

  7. Patients with carcinoid syndrome exhibit symptoms of aggressive impulse dysregulation

    NARCIS (Netherlands)

    Russo, S; Boon, JC; Kema, IP; Willemse, PHB; den Boer, JA; Korf, J; de Vries, EGE

    2004-01-01

    Objective: Carcinoid tumors can produce excessive amounts of biogenic amines, notably serotonin. We assessed psychiatric symptoms in carcinoid patients and peripheral metabolism of tryptophan, the precursor of serotonin. Methods: Twenty consecutive patients with carcinoid syndrome underwent a struct

  8. The effects of harvest regulations on behaviors of duck hunters

    Science.gov (United States)

    Haugen, Matthew T.; Powell, Larkin A.; Vrtiska, Mark P.; Pope, Kevin L.

    2015-01-01

    Uncertainty exists as to how duck harvest regulations influence waterfowl hunter behavior. We used the U.S. Fish and Wildlife Service’s Parts Collection Survey to examine how harvest regulations affected behaviors of Central Flyway duck hunters. We stratified hunters into ranked groups based on seasonal harvest and identified three periods (1975–1984, 1988–1993, 2002–2011) that represented different harvest regulations (moderate, restrictive, and liberal, respectively; season length and daily bag limits smallest in restrictive seasons and largest in liberal seasons). We examined variability of seven measures of duck hunter behaviors across the periods: days harvesting ducks, daily harvest, hunter mobility, mallard (Anas platyrhynchos) selectivity, gender selectivity, daily female mallard harvest, and timing of harvest. Hunters reported harvesting ducks on more days, at a higher efficiency, and in slightly more counties during liberal seasons relative to restrictive and moderate seasons. We provide evidence to suggest that future regulation change will affect hunter behaviors.

  9. Prevalence of Metabolic Syndrome in Patients with Psoriasis

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    Ilkin Zindancı

    2012-01-01

    Full Text Available Background. Psoriasis is a chronic inflammatory skin disorder in which proinflammatory cytokines including IL-6 and TNF-α increase both locally and systematically. It is thought that chronic inflammation results in metabolic diseases and proinflammatory cytokines give rise to the development of atherogenesis, peripheral insulin resistance, hypertension, and type 2 diabetes. Our aim was to investigate the prevalence of metabolic syndrome in patients with psoriasis vulgaris. Methods. Study consisted of 115 plaque-type psoriasis patients and 140 healthy individuals. Data including body weight, height, waist circumference, body-mass index, and arterial blood pressure were collected. Fasting blood glucose, triglyceride, and HDL levels were determined. International Diabetes Federation Criteria for Metabolic Syndrome and Insulin Resistance were used for evaluating patients with metabolic syndrome and diabetes. Results. Compared to the control group, metabolic syndrome, diabetes mellitus, and hypertension were found to be higher in psoriasis patients. Metabolic syndrome was increased by 3-folds in psoriasis patients and was more prevalent in women than in men. It was determined that the prevalence of metabolic syndrome was higher in psoriasis patients after the age of 40. Metabolic syndrome was not related to smoking, severity of psoriasis, and duration of disease. Conclusions. Our findings suggest that psoriasis preconditions occurrence of a group of diseases such as diabetes mellitus, hypertension, and metabolic syndrome. For this reason, patients with psoriasis should be treated early and they should be followed with respect to metabolic diseases.

  10. Lupus anticoagulant-hypoprothrombinemia syndrome and catastrophic antiphospholipid syndrome in a patient with antidomain I antibodies.

    Science.gov (United States)

    Galland, Joris; Mohamed, Shirine; Revuz, Sabine; de Maistre, Emmanuel; de Laat, Bas; Marie, Pierre-Yves; Zuily, Stéphane; Lévy, Bruno; Regnault, Véronique; Wahl, Denis

    2016-07-01

    Lupus anticoagulant-hypoprothrombinemia syndrome is a rare condition characterized by the association of acquired factor II deficiency and lupus anticoagulant. Contrary to classical antiphospholipid syndrome, it may cause severe life-threatening bleeding (89% of published cases). We report a patient, positive for antidomain I antibodies, with initially primary lupus anticoagulant-hypoprothrombinemia syndrome without previous clinical manifestation or underlying systemic disease. Five years later, he experienced the first systemic lupus erythematous flare. Within a few days, catastrophic antiphospholipid syndrome was diagnosed with heart, liver and kidney involvement. The patient recovered under pulse steroids, intravenous heparin and intravenous immunoglobulins.

  11. Restless legs syndrome in opioid dependent patients

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    Abhishek Ghosh

    2014-01-01

    Full Text Available Although frequently underdiagnosed, several epidemiological studies have estimated the prevalence of restless legs syndrome (RLS in western countries at 5-15% of the general population. The diagnosis is usually made on a clinical basis, according to the criteria established by the international RLS study group. There are case reports of transient RLS in opiate withdrawal. We describe three opiate (dextropropoxyphene (DPP dependent young male patients; two of them had DPP intoxication/withdrawal seizure developing RLS during opiate withdrawal. However, their RLS persisted even after the remission of other withdrawal symptoms. Thyroid function test, hemogram, serum ferritin were normal in all of them. The cases responded well to a treatment with ropinirole. Hence, there might be a causal association, which required further well-designed studies to substantiate. The sleep disturbances and use of benzodiazepines can be minimized by increasing clinician′s sensitivity to diagnose RLS.

  12. [Prevalence of metabolic syndrome and its components in patients with acute coronary syndrome].

    Science.gov (United States)

    Jover, Ana; Corbella, Emili; Muñoz, Anna; Millán, Jesús; Pintó, Xavier; Mangas, Alipio; Zúñiga, Manuel; Pedro-Botet, Juan; Hernández-Mijares, Antonio

    2011-07-01

    A large proportion of patients with coronary disease have metabolic syndrome, although the frequency and association of its different components are not well understood. The aim of this study was to determine the prevalence of metabolic syndrome and the combination of its components in a Spanish cohort of patients with acute coronary syndrome. Clinical histories of 574 inpatients with acute coronary syndrome in 6 tertiary hospitals were reviewed and the presence of metabolic syndrome and its components determined by applying Adult Treatment Panel III criteria. In a second step, the components of the metabolic syndrome were analyzed, excluding those patients with diabetes mellitus. The metabolic syndrome was present in 50.9% of patients and was more frequent in women than in men (66.3% vs. 47.3%; P<.001). The most prevalent component was carbohydrate metabolism disorder (85.3%), followed by low high-density lipoprotein cholesterol (HDLc) levels (80.5%). In nondiabetic patients, 34.6% had metabolic syndrome and the most prevalent component was low HDLc levels (86%), followed by high blood pressure and hypertriglyceridemia and, in fourth place, impaired fasting serum glucose levels. The metabolic syndrome has a high prevalence in patients with an acute coronary syndrome, especially in women. The most frequent components are hyperglycemia and low HDLc levels. After excluding diabetic patients, the most prevalent diagnostic criterion of metabolic syndrome was low HDLc levels. Full English text available from: www.revespcardiol.org. Copyright © 2011 Sociedad Española de Cardiología. Published by Elsevier Espana. All rights reserved.

  13. Restless legs syndrome in patients on dialysis

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    Al-Jahdali Hamdan

    2009-01-01

    Full Text Available Restless legs syndrome (RLS is an extremely distressing problem experienced by patients on dialysis; the prevalence appears to be greater than in the general population, with a wide variation from 6.6% to 80%. The diagnosis of RLS is a clinical one, and its definition has been clarified and standardized by internationally recognized diagnostic criteria, published in 1995 by the International Restless Legs Syndrome Study Group (IRLSSG. This study was designed to find out the prevalence of RLS in Saudi patients with end-stage renal disease (ESRD on maintenance dialysis. This is a cross sectional study carried out between May and Sept 2007 at two centers, King Abdulaziz Medical City-King Fahad National Guard Hospital (KAMC-KFNGH, Riyadh and King Faisal Specialist Hospital and Research Centre (KFHRC, Jeddah, Saudi Arabia. Data were gathered on 227 Saudi patients on chronic maintenance hemodialysis or chronic peritoneal dialysis. The prevalence of RLS was measured using IRLSSG′s RLS Questionnaire (RLSQ. Potential risk factors for RLS including other sleep disorders, underlying cause of chronic renal failure, duration on dialysis, dialysis shift, biochemical tests and demographic data were also evaluated. The overall prevalence of RLS was 50.22% including 53.7% males and 46.3% females. Their mean age was 55.7 ± 17.2 years and mean duration on dialysis 40.4 ± 37.8 months. Significant predictors of RLS were history of diabetes mellitus (DM, coffee intake, afternoon dialysis, gender and type of dialysis (P= 0.03, 0.01, < 0.001, 0.05 and 0.009 respectively. Patients with RLS were found to be at increased risk of having insomnia and excessive daytime sleepiness (EDS (P= < 0.001 and 0.001, respectively. Our study suggests that RLS is a very common problem in dialysis population and was significantly associated with other sleep disorders, particularly insomnia, and EDS. Optimal care of dialysis patient should include particular attention to the diagnosis

  14. Restless legs syndrome in patients on dialysis.

    Science.gov (United States)

    Al-Jahdali, Hamdan H; Al-Qadhi, Waleed A; Khogeer, Haithm A; Al-Hejaili, Fayez F; Al-Ghamdi, Saeed M; Al Sayyari, Abdullah A

    2009-05-01

    Restless legs syndrome (RLS) is an extremely distressing problem experienced by patients on dialysis; the prevalence appears to be greater than in the general population, with a wide variation from 6.6% to 80%. The diagnosis of RLS is a clinical one, and its definition has been clarified and standardized by internationally recognized diagnostic criteria, published in 1995 by the International Restless Legs Syndrome Study Group (IRLSSG). This study was designed to find out the prevalence of RLS in Saudi patients with end-stage renal disease (ESRD) on maintenance dialysis. This is a cross sectional study carried out between May and Sept 2007 at two centers, King Abdulaziz Medical City-King Fahad National Guard Hospital (KAMC-KFNGH), Riyadh and King Faisal Specialist Hospital and Research Centre (KFHRC), Jeddah, Saudi Arabia. Data were gathered on 227 Saudi patients on chronic maintenance hemodialysis or chronic peritoneal dialysis. The prevalence of RLS was measured using IRLSSG's RLS Questionnaire (RLSQ). Potential risk factors for RLS including other sleep disorders, underlying cause of chronic renal failure, duration on dialysis, dialysis shift, biochemical tests and demographic data were also evaluated. The overall prevalence of RLS was 50.22% including 53.7% males and 46.3% females. Their mean age was 55.7 +/- 17.2 years and mean duration on dialysis 40.4 +/- 37.8 months. Significant predictors of RLS were history of diabetes mellitus (DM), coffee intake, afternoon dialysis, gender and type of dialysis (P= 0.03, 0.01, < 0.001, 0.05 and 0.009 respectively). Patients with RLS were found to be at increased risk of having insomnia and excessive daytime sleepiness (EDS) (P= < 0.001 and 0.001, respectively). Our study suggests that RLS is a very common problem in dialysis population and was significantly associated with other sleep disorders, particularly insomnia, and EDS. Optimal care of dialysis patient should include particular attention to the diagnosis and

  15. Prevalence of Burnout Syndrome in patients admitted with acute coronary syndrome.

    Science.gov (United States)

    Prosdócimo, Ana Cláudia Giaxa; Lucina, Luciane Boreki; Marcia, Olandoski; Jobs, Priscila Megda João; Schio, Nicolle Amboni; Baldanzi, Fernanda Fachin; Costantini, Costantino Ortiz; Benevides-Pereira, Ana Maria Teresa; Guarita-Souza, Luiz Cesar; Faria-Neto, José Rocha

    2015-03-01

    Burnout Syndrome is the extreme emotional response to chronic occupational stress, manifesting as physical and mental exhaustion. Although associated with higher prevalence of cardiovascular risk factors, no study so far has evaluated whether the Burnout Syndrome could be a prevalent factor in non-elderly individuals active in the labor market, admitted for acute coronary syndrome (ACS). To evaluate the prevalence of the Burnout Syndrome in non-elderly, economically active patients, hospitalized with ACS. Cross-sectional study conducted in a tertiary and private cardiology center, with economically active patients aged Burnout Syndrome was evaluated with the Burnout Syndrome Inventory (BSI), which assesses workplace conditions and four dimensions that characterize the syndrome: emotional exhaustion (EE), emotional distancing (EmD), dehumanization (De) and professional fulfillment (PF). The Lipp's Stress Symptoms Inventory for Adults (LSSI) was applied to evaluate global stress. Of 830 patients evaluated with suspected ACS, 170 met the study criteria, 90% of which were men, overall average age was 52 years, and 40.5% had an average income above 11 minimum wages. The prevalence of the Burnout Syndrome was 4.1%. When we evaluated each dimension individually, we found high EE in 34.7%, high De in 52.4%, high EDi in 30.6%, and low PF in 5.9%. The overall prevalence of stress was 87.5%. We found a low prevalence of Burnout Syndrome in an economically active, non-elderly population among patients admitted for ACS in a tertiary and private hospital.

  16. Dermatologic findings in 16 patients with Cockayne syndrome and cerebro-oculo-facial-skeletal syndrome.

    Science.gov (United States)

    Frouin, Eric; Laugel, Vincent; Durand, Myriam; Dollfus, Hélène; Lipsker, Dan

    2013-12-01

    Cockayne syndrome (CS) and cerebro-oculo-facial-skeletal (COFS) syndrome are autosomal recessive diseases that belong to the family of nucleotide excision repair disorders. Our aim was to describe the cutaneous phenotype of patients with these rare diseases. A systematic dermatologic examination of 16 patients included in a European study of CS was performed. The patients were aged 1 to 28 years. Six patients (38%) had mutations in the Cockayne syndrome A (CSA) gene, and the remaining had Cockayne syndrome B (CSB) gene mutations. Fourteen patients were classified clinically as having CS and 2 as having COFS syndrome. Photosensitivity was present in 75% of the patients and was characterized by sunburn after brief sun exposure. Six patients developed symptoms after short sun exposure through a windshield. Six patients had pigmented macules on sun-exposed skin, but none developed a skin neoplasm. Twelve patients (75%) displayed cyanotic acral edema of the extremities. Eight patients had nail dystrophies and 7 had hair anomalies. The dermatologic findings of 16 cases of CS and COFS syndrome highlight the high prevalence of photosensitivity and hair and nail disorders. Cyanotic acral edema was present in 75% of our patients, a finding not previously reported in CS.

  17. Cryoglobulinemic vasculitis in a patient with CREST syndrome.

    Science.gov (United States)

    Hurst, Rebecca L; Berianu, Florentina; Ginsburg, William W; Klein, Christopher J; Englestad, Janean K; Kennelly, Kathleen D

    2014-10-01

    Cryoglobulinemic vasculitis is a rare entity. Although it has been reported in diffuse systemic sclerosis, it has not been reported in calcinosis, Raynaud's phenomenon, esophageal dysmotility, sclerodactyly and telangiectasia (CREST) syndrome. We report a patient with cryoglobulinemic vasculitis with CREST syndrome who did not have typical clinical features of vasculitis. This 58-year-old woman presented with mild generalized weakness and a diagnosis of CREST syndrome, which included Raynaud's syndrome, dysphagia and telangiectasias. She was positive for serum cryoglobulins, which led to a sural nerve biopsy. The biopsy results were consistent with cryoglobulinemic vasculitis. Cryoglobulinemic vasculitis has not been previously reported in CREST syndrome to our knowledge. Additionally, the patient also had limited clinical symptoms. Our patient displays the importance of checking for cryoglobulins and obtaining a nerve biopsy when the serum is positive. Both of these diagnostic tests were integral for directing appropriate treatment for this patient.

  18. Research advances in traditional Chinese medicine syndromes in cancer patients.

    Science.gov (United States)

    Ji, Qing; Luo, Yun-quan; Wang, Wen-hai; Liu, Xuan; Li, Qi; Su, Shi-bing

    2016-01-01

    Traditional Chinese medicine (TCM) syndrome, also known as TCM ZHENG or TCM pattern, is an integral and essential part of TCM theory that helps to guide the design of individualized treatments. A TCM syndrome, in essence, is a characteristic profile of all clinical manifestations in one patient that can be readily identified by a TCM practitioner. In this article, the authors reviewed the presentations of TCM syndromes in seven common malignancies (liver, lung, gastric, breast, colorectal, pancreatic and esophageal cancers), the objectivity and the standardization of TCM syndrome differentiation, the evaluation of TCM syndrome modeling in cancer research, and syndrome differentiation-guided TCM treatment of cancers. A better understanding of TCM syndrome theory, as well as its potential biological basis, may contribute greatly to the clinical TCM diagnosis and the treatment of cancer.

  19. Restless Legs Syndrome in Pediatric Patients With Nephrotic Syndrome

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    Victoria Cheung BA

    2015-05-01

    Full Text Available Background. Restless legs syndrome (RLS is a sleep disorder characterized by an urge to move or the presence of unpleasant sensations in the extremities. The prevalence of RLS is higher in children and adults with chronic kidney disease and in adults with glomerular disease. Objective. To determine the prevalence of RLS in children with nephrotic syndrome. Methods. We studied 50 children with nephrotic syndrome and 22 controls. The following surveys were administered: Pediatric Emory RLS questionnaire, Pediatric Daytime Sleepiness Scale, and Pediatric Sleep Questionnaire. Results. Children with nephrotic syndrome were 9.0 ± 4.4 years old, 27 were male, and 27 were in remission. The prevalence of RLS was similar in the nephrotic syndrome cases and controls, whether or not indeterminate cases were considered positive: 14.0% versus 13.6% including indeterminate cases, and 8.0% versus 9.1% excluding indeterminate cases. Conclusion. RLS is not more common in children with glomerular disease compared to healthy controls.

  20. Cardiac valve degeneration in a patient with Sneddon syndrome.

    Science.gov (United States)

    Diosteanu, Raluca; Schuler, Gerhard; Müller, Ulrike

    2015-06-01

    Sneddon syndrome--a rare cause of aortic and mitral valve stenosis. Sneddon syndrome is a rare disorder that leads to repeated occurrence of cerebrovascular disease and skin manifestation, defined as livedo racemosa generalisata. The authors report the occurrence of multiple valve degenerations in a 49-year-old patient with Sneddon syndrome, which seemed to have been asymptomatic through a long period of time and was diagnosed as it needed a complex surgical intervention.

  1. Abdominal aortic thrombosis in a patient with nephrotic syndrome.

    Science.gov (United States)

    Nakamura, M; Ohnishi, T; Okamoto, S; Yamakado, T; Isaka, N; Nakano, T

    1998-01-01

    We report a patient who presented with severe nephrotic syndrome complicated with infrarenal aortic and right renal arterial thrombosis. The nephrotic syndrome frequently causes thromboembolic complications in veins, but arterial thrombosis is relatively rare, especially in the aorta. Various predisposing factors leading to thromboembolic complications are discussed. In this case, the thromboembolic complication may have some clinical association with the hypercoagulable state in nephrotic syndrome.

  2. Metabolic syndrome among patients receiving clozapine: A preliminary estimate

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    Sandeep Grover

    2011-01-01

    Full Text Available Objective : To study the prevalence of metabolic syndrome in patients receiving clozapine. Materials and Methods : For this study, 100 patients attending the psychiatry outpatient clinic of a tertiary care hospital who were receiving clozapine for more than three months were evaluated for the presence of metabolic syndrome using the International Diabetes Federation (IDF and modified National Cholesterol Education Program Adult Treatment Panel III (NCEP ATP-III criteria. Results : Forty-six patients fulfilled IDF criteria and 47 met modified NCEP ATP-III criteria of metabolic syndrome. There was significant correlation between these two sets of criteria used to define the metabolic syndrome (Kappa value -0.821, P < 0.001. Among the individual parameters studied, increased waist circumference was the most common abnormality, followed by abnormal blood glucose levels and elevated triglyceride levels. All these abnormalities were seen in more than half (52-61% of the patients. When the sample was divided into two groups, i.e., those with and without metabolic syndrome, patients with metabolic syndrome had significantly higher body mass index and had spent more time in school. Logistic regression analysis revealed that these two variables together explained about 19% of the variance in metabolic syndrome (adjusted r 2 = 0193; F = 12.8; P < 0.001. Conclusion : The findings of the present study suggest that metabolic syndrome is highly prevalent in subjects receiving clozapine.

  3. Metabolic syndrome in patients with prostate cancer

    Directory of Open Access Journals (Sweden)

    Iúri Amorim de Santana

    Full Text Available CONTEXT AND OBJECTIVE: Prostate cancer (PCa is the second most common cancer among men in Brazil. Recently, several studies have hypothesized a relationship between PCa and metabolic syndrome (MS. The aim here was to identify an association between MS and PCa. DESIGN AND SETTING: Cross-sectional study, Fundação de Beneficência Hospital de Cirurgia (FBHC and Universidade Federal de Sergipe. METHODS: Laboratory and anthropometric parameters were compared between PCa patients (n = 16 and controls (n = 16. RESULTS: The PCa patients showed significantly greater frequency of MS than did the controls (p = 0.034. Serum glucose was higher and high-density lipoprotein-cholesterol was lower than in the controls, although without significant differences. There were significant differences in blood pressure (p = 0.029 and waist-to-hip ratio (p = 0.004. Pearson linear correlation showed a positive association between waist-to-hip ratio and prostate specific antigen (r = 0.584 and p = 0.028. Comparing subgroups with and without MS among the PCa patients, significant differences (p < 0.05 in weight, height, body mass index, hip circumference and lean body mass were observed, thus showing higher central obesity in those with MS. The serum glucose values were also higher in MS patients (p = 0.006, thus demonstrating that insulin resistance has a role in MS physiopathology. CONCLUSIONS: Our study suggests that MS may exert an influence on the development of PCa. However, it would be necessary to expand the investigation field with larger sample sizes and cohorts studied, to test the hypothesis generated in this study.

  4. Primary headaches in restless legs syndrome patients

    Directory of Open Access Journals (Sweden)

    Ravi Gupta

    2012-01-01

    Full Text Available Earlier studies conducted among migraineurs have shown an association between migraine and restless legs syndrome (RLS. We chose RLS patients and looked for migraine to exclude sample bias. Materials and Methods: 99 consecutive subjects of idiopathic RLS were recruited from the sleep clinic during four months period. Physician diagnosis of headache and depressive disorder was made with the help of ICHD-2 and DSM-IV-TR criteria, respectively. Sleep history was gathered. Severity of RLS and insomnia was measured using IRLS (Hindi version and insomnia severity index Hindi version, respectively. Chi-square test, one way ANOVA and t-test were applied to find out the significance. Results: Primary headache was seen in 51.5% cases of RLS. Migraine was reported by 44.4% subjects and other types of ′primary headaches′ were reported by 7.1% subjects. Subjects were divided into- RLS; RLS with migraine and RLS with other headache. Females outnumbered in migraine subgroup (χ2 =16.46, P<0.001. Prevalence of depression (χ2 =3.12, P=0.21 and family history of RLS (χ2 =2.65, P=0.26 were not different among groups. Severity of RLS (P=0.22 or insomnia (P=0.43 were also similar. Conclusion: Migraine is frequently found in RLS patients in clinic based samples. Females with RLS are prone to develop migraine. Depression and severity of RLS or insomnia do not affect development of headache.

  5. Hunter-McAlpine craniosynostosis phenotype associated with skeletal anomalies and interstitial deletion of chromosome 17q

    Energy Technology Data Exchange (ETDEWEB)

    Thomas, J.; Prescott, K.; Milner, R. [Univ. of Colorado School of Medicine, Denver, CO (United States)] [and others

    1994-09-01

    Syndromic craniosynostosis is frequently associated with skeletal abnormalities, but the biological basis for this association is unclear. Molecular genetic studies have the biological basis for this association is unclear. Molecular genetic studies have identified a number of loci and at least one candidate gene, the MSX2 gene. We recently encountered a 9 y.o. boy with moderate mental retardation, congenital craniosynostosis, and multiple skeletal anomalies. Physical features strongly suggested Hunter-McAlpine syndrome (HMS). Specifically, he had triangular facies with a small mouth prominent chin, bulbous nose, thin vermillion border, malaligned and malformed teeth, and low set, rudimentary ears. Skeletal features included: bilambdoidal, bicoronal, and sagittal craniosynostosis; right preaxial polydactyly; bilateral talipes; coxa valga; genu valgum; bilateral fusion of the hamate and capitate; scoliosis; and small, irregular middle phalangeal epiphyses. High resolution chromosome analysis revealed an interstitial deletion of G negative material of subbands q23.1{r_arrow}23.3 or q23.3{r_arrow}q24.2 of a No. 17 homologue. HMS, a presumed autosomal dominant disorder associated with characteristic facies, variable degrees of mental retardation, craniosynostosis, and minor acral-skeletal anomalies, proved to be the most likely explanation for this patient`s findings. We propose that our patient has a new mutation for HMS with more severe skeletal involvement than previously reported. Linkage studies are in progress to test the hypothesis that familial HMS may be localized to chromosome 17.

  6. Frailty syndrome in ambulatory patients with COPD

    Directory of Open Access Journals (Sweden)

    Limpawattana P

    2017-04-01

    stable COPD patients. Cancer, two or more instances of nonelective hospitalization over the past 12 months, high WC, and presence of sarcopenia were associated with frailty. Early identification and intervention in high-risk patients is recommended to prevent or delay the adverse outcomes of frailty. Keywords: frailty syndrome, FRAIL scale, chronic lung disease, sarcopenia

  7. Subclinical Carpal Tunnel Syndrome in Patients with Acute Stroke

    Directory of Open Access Journals (Sweden)

    Soroosh Dabiri

    2012-07-01

    Full Text Available Background: Stroke is the first cause of morbidity all around the world. Entrapment neuropathies are a known complication of stroke. The objective of this study is to assess the frequency of subclinical carpal tunnel syndrome in the healthy and paretic hands of stroke patients.Methods: The authors performed nerve conduction study in the first three days after admission in 39 stroke patients without subclinical carpal tunnel syndrome and 30 days after admission. Electrophysiological studies were done in both paretic and non-paretic hands. Both ulnar and median nerves were studied.Results: After one month we found subclinical carpal tunnel syndrome in 16 paretic hands and 13 healthy hands. We did not find any difference in the frequency of carpal tunnel syndrome in two sides.Conclusion: The authors suggest that simultaneous different mechanisms may act in inducing carpal tunnel syndrome in both hands of hemiparetic patients.

  8. Severe obstructive sleep apnoea syndrome in an adult patient with Laron syndrome.

    Science.gov (United States)

    Dagan, Y; Abadi, J; Lifschitz, A; Laron, Z

    2001-08-01

    A 68 year old patient with Laron syndrome (primary growth hormone (GH) resistance-insensitivity due to a molecular defect of the GH receptor) and severe obstructive sleep apnoea syndrome is described. Treatment with continuous positive air pressure therapy resulted in improved nocturnal sleep, daytime alertness and cognitive functions.

  9. Anaesthetic implications in a patient with Morquio A syndrome

    Directory of Open Access Journals (Sweden)

    Charu Mahajan

    2015-01-01

    Full Text Available In patients with Morquio A syndrome, almost all the systems of body are affected and this has a bearing on their anaesthetic management. Herein, we describe the management of child with Morquio A syndrome with atlanto-axial dislocation who underwent posterior fixation under general anaesthesia.

  10. Rivaroxaban in patients with a recent acute coronary syndrome

    DEFF Research Database (Denmark)

    Mega, Jessica L; Braunwald, Eugene; Wiviott, Stephen D

    2012-01-01

    Acute coronary syndromes arise from coronary atherosclerosis with superimposed thrombosis. Since factor Xa plays a central role in thrombosis, the inhibition of factor Xa with low-dose rivaroxaban might improve cardiovascular outcomes in patients with a recent acute coronary syndrome....

  11. Rivaroxaban in patients with a recent acute coronary syndrome.

    NARCIS (Netherlands)

    Mega, J.L.; Braunwald, E.; Wiviott, S.D.; Bassand, J.P.; Bhatt, D.L.; Bode, C.; Burton, P.; Cohen, M.; Cook-Bruns, N.; Fox, K.A.; Goto, S.; Murphy, S.A.; Plotnikov, A.N.; Schneider, D.; Sun, X.; Verheugt, F.W.A.; Gibson, C.M.

    2012-01-01

    BACKGROUND: Acute coronary syndromes arise from coronary atherosclerosis with superimposed thrombosis. Since factor Xa plays a central role in thrombosis, the inhibition of factor Xa with low-dose rivaroxaban might improve cardiovascular outcomes in patients with a recent acute coronary syndrome. ME

  12. Brugada syndrome in a patient with accessory pathway.

    Science.gov (United States)

    Bodegas, A I; Arana, J I; Vitoria, Y; Arriandiaga, J R; Barrenetxea, J I

    2002-01-01

    Brugada syndrome in a patient with Wolff-Parkinson-White syndrome. We report a 32-year-old man with orthodromic atrioventricular (AV) reciprocating tachycardia using a right posterior accessory pathway. However, his ECG showed ST segment elevation in leads V1 to V3. After successful radiofrequency ablation of his accessory pathway a cardioverter defibrillator was implanted.

  13. SICK SINUS SYNDROME IN PATIENTS WITH ACUTE CEREBROVASCULAR ACCIDENTS

    Directory of Open Access Journals (Sweden)

    E. K. Kazakova

    2015-01-01

    Full Text Available The article presents a clinical case of 2 patients with heart arrhythmias of the sick sinus syndrome type, who were implanted electriccardiac pacemakers in the acute period of cerebrovascular accidents. There were no cardiac complaints in the clinical manifestation, however, a comprehensive assessment confirmed the diagnosis of sick sinus syndrome.

  14. Progression of salivary gland dysfunction in patients with Sjogren's syndrome

    NARCIS (Netherlands)

    Pijpe, J.; Kalk, W. W. I.; Bootsma, H.; Spijkervet, F. K. L.; Kallenberg, C. G. M.; Vissink, A.

    Background: Salivary gland dysfunction is one of the key manifestations of Sjogren's syndrome. Objectives: (1) To assess prospectively loss of function of individual salivary glands in patients with primary and secondary Sjogren's syndrome in relation to disease duration and use of immunomodulatory

  15. Progression of salivary gland dysfunction in patients with Sjogren's syndrome

    NARCIS (Netherlands)

    Pijpe, J.; Kalk, W. W. I.; Bootsma, H.; Spijkervet, F. K. L.; Kallenberg, C. G. M.; Vissink, A.

    2007-01-01

    Background: Salivary gland dysfunction is one of the key manifestations of Sjogren's syndrome. Objectives: (1) To assess prospectively loss of function of individual salivary glands in patients with primary and secondary Sjogren's syndrome in relation to disease duration and use of immunomodulatory

  16. Hepatic disease in patients with acquired immunodeficiency syndrome

    African Journals Online (AJOL)

    The acquired immunodeficiency syndrome is now the leading cause of death in the world. Liver involvement in opportunistic infections and neoplasms affecting patients with human immunodeficiency disease syndrome are common. ... DNA polymerase levels and hepatocyte .... Entamoeba histolytica typically presents with.

  17. A peritoneal dialysis patient with osmotic demyelination syndrome

    Directory of Open Access Journals (Sweden)

    Hing Ming Cheng

    2016-04-01

    Full Text Available A peritoneal dialysis patient with cirrhosis presented with drowsiness, vomiting, and mild hyponatremia. Despite no active correction of hyponatremia, she developed convulsion and quadriplegia. Magnetic resonance imaging of the brain showed changes of osmotic demyelination syndrome. This case illustrates that osmotic demyelination syndrome may occur in peritoneal dialysis without rapid correction of hyponatremia.

  18. Lenz microphthalmic syndrome in an Indian patient

    Directory of Open Access Journals (Sweden)

    Gupta Arvind

    2007-01-01

    Full Text Available A case of Lenz microphthalmia syndrome in a seven-month-old male child having features of unilateral anophthalmia, microcephaly, external ear and finger abnormalities, hydrocele and hypospadias is being reported. The unilateral involvement and anophthalmia is rare in Lenz syndrome. The manifestation of hydrocele in association with this syndrome has not been seen in earlier cases. This is the first documented case from India.

  19. Lenz microphthalmic syndrome in an Indian patient.

    Science.gov (United States)

    Gupta, Arvind; Srinivasan, Renuka; Pandian, Datta G; Babu, K Ramesh

    2007-01-01

    A case of Lenz microphthalmia syndrome in a seven-month-old male child having features of unilateral anophthalmia, microcephaly, external ear and finger abnormalities, hydrocele and hypospadias is being reported. The unilateral involvement and anophthalmia is rare in Lenz syndrome. The manifestation of hydrocele in association with this syndrome has not been seen in earlier cases. This is the first documented case from India.

  20. Laparoscopic adrenalectomy in patients with subclinical Cushing syndrome.

    Science.gov (United States)

    Perysinakis, Iraklis; Marakaki, Chrisanthi; Avlonitis, Spyridon; Katseli, Anastasia; Vassilatou, Evangeline; Papanastasiou, Lambrini; Piaditis, George; Zografos, George N

    2013-06-01

    Subclinical Cushing syndrome in patients with adrenal incidentalomas has been associated with an increased prevalence of the metabolic syndrome and cardiovascular risk. The management of these patients, be it conservative or surgical, is still debated, but there is accumulating evidence that surgery is best and that laparoscopic adrenalectomy, when possible, is the most preferred procedure. Here we present the short- and long-term results of laparoscopic adrenalectomy for subclinical Cushing syndrome and determine the effect of this procedure on components of the metabolic syndrome. Twenty-nine patients, 8 men and 21 women with adrenal incidentalomas and subclinical Cushing syndrome who underwent laparoscopic adrenalectomy, were studied retrospectively. They had undergone postoperative follow-up for improvement or worsening of their arterial blood pressure, body weight, and fasting glucose level for a mean period of 77 months. Preoperatively, 17 patients (58.6 %) had arterial hypertension, 14 (48.3 %) had a body mass index exceeding 27 kg/m(2), and 12 (41.4 %) had diabetes mellitus. Postoperatively, a decrease in mean arterial pressure was found in 12 patients (70.6 %), a decrease in body mass index in 6 patients (42.9 %), and an improvement in glycemic control in 5 patients (41.7 %). Laparoscopic adrenalectomy is beneficial in many patients with subclinical Cushing syndrome because it reduces arterial blood pressure, body weight, and fasting glucose levels. Prospective randomized studies are needed to compare laparoscopic adrenalectomy with a conservative approach and to confirm these results.

  1. Altered gastric emptying in patients with irritable bowel syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Caballero-Plasencia, A.M.; Valenzuela-Barranco, M. [Department of Medicine, School of Medicine, University of Granada (Spain); Herrerias-Gutierrez, J.M. [Division of Gastroenterology, University Hospital ``Virgen de la Macarena``, Sevilla (Spain); Esteban-Carretero, J.M. [Central Service of Investigation in Health Sciences, University of Cadiz, Cadiz (Spain)

    1999-04-29

    Irritable bowel syndrome is the most frequent functional disorder of the digestive system. Patients with irritable bowel syndrome have motor disorders not only in the colon, but also in other parts of the digestive tract such as the oesophagus and small intestine; however, it is not known whether the stomach is also involved. We used a radiolabelled mixed solid-liquid meal (technetium-99m for the solid component, indium-111 for the liquid component) to study gastric emptying of solids (GES), liquids (GEL) and indigestible solids (GER) in 50 patients diagnosed as having irritable bowel syndrome (30 with predominant constipation and 20 with predominant diarrhoea). GER was measured by counting the number of indigestible solids remaining in the stomach 4 h after they were swallowed. In patients with irritable bowel syndrome, GES and GEL were slower than in control subjects (P<0.05). GER was normal in all patients except for two women. Thirty-two patients (64%) showed delayed GES, 29 (58%) delayed GEL, and 2 (4%) delayed GER. Among patients with irritable bowel syndrome, GES was slower in those with predominant constipation than in those with predominant diarrhoea (P<0.05); GEL and GER were similar in both groups. Gastroparesis was found in a large proportion of patients with irritable bowel syndrome, suggesting the presence of a more generalised motor disorder of the gut. (orig.) With 1 fig., 3 tabs., 48 refs.

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

    African Journals Online (AJOL)

    Prevalence of the metabolic syndrome among patients with type 2 diabetes mellitus ... Data obtained included anthropometric indices, blood pressure and fasting ... towards addressing these abnormalities through lifestyle modification, health ...

  3. MRI in a patient with the Worster-Drought syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Arbelaez, A.; Castillo, M. [Department of Radiology, University of North Carolina School of Medicine, Chapel Hill, NC 27599-7510 (United States); Tennison, M. [Department of Neurology, University of North Carolina School of Medicine, Chapel Hill, NC 27599 (United States)

    2000-06-01

    We describe a patient with the Worster-Drought syndrome (congenital suprabulbar paresis), thought to be a failure of development of the corticobulbar tracts. MRI showed bilateral perisylvian cortical dysplasia. (orig.)

  4. Psychosocial aspects of patients with the Ullrich-Turner syndrome.

    Science.gov (United States)

    Chen, H; Faigenbaum, D; Weiss, H

    1981-01-01

    Family and social background and psychosexual and psychomotor development were studied on 24 patients with the Ullrich-Turner syndrome ranging in age from 9 months to 18 years. Infancy is often characterized by mild feeding problems and sleeping difficulty. Early motor development is normal or mildly delayed but acquisition of speech and toilet training appear to be appropriate for age. Social skills are excellent. Psychopathology is not a significant aspect of the Ullrich-Turner syndrome. Psychological tests support the findings of verbal IQ exceeding performance IQ, space-form perceptual deficits, and visual motor deficit. No difference of intelligence was found between apparently nonmosaic and mosaic types of Ullrich-Turner syndrome. The degree of parental understanding and appropriate attitudes toward the patient and the syndrome largely depend on good family relationships, the socioeconomic level of the family, parents' personalities and their ability to cope with the implications of the syndrome, and appropriate physician's counseling.

  5. Wildlife value orientations among hunters, landowners and the general public

    DEFF Research Database (Denmark)

    Gamborg, Christian; Jensen, Frank Søndergaard

    2016-01-01

    . Significant differences in wildlife value orientations were found. Mutualists and distanced dominated in the public; most landowners and hunters were utilitarian followed by pluralist. Male hunters were more utilitarian than female. More active hunters were more utilitarian; hunters belonging to a hunting...... association were more utilitarian than those who did not belong to associations. Full-time farmers were more utilitarian than part-time farmers, and conventional farmers were more utilitarian than organic farmers. No significant difference with regard to residence for all three groups was found. Future...

  6. [Arteriovenous fistula in patients with a complicated postphlebitic syndrome].

    Science.gov (United States)

    Quiñones Castro, M; Fernández de la Vara Sánchez, L; Perera González, F; Alvarez Sánchez, J A

    1991-01-01

    An investigation, which goal is to evidencing AV fistulas in patients with a complicated postthrombotic syndrome, as well as to determinate the efficacy of noninvasive methods used for the study of AV fistulas in such patients, is presented. So, patients with a complicated postphlebitic syndrome interned into the Instituto de Angiología were studied. Twenty-five patients were included in the study, 9 of these patients (36%) had arteriovenous fistulas, arteriographically evidenced. Haemodynamic study do not support the evidence of such communications.

  7. GERSTMANN’S SYNDROME IN ACUTE STROKE PATIENTS

    OpenAIRE

    Zukic, Sanela; MRKONJIC Zamir; Sinanovic, Osman; Vidovic, Mirjana; Kojic, Biljana

    2012-01-01

    Objective: Gerstmann in 1924. observed in a few patients a concomitant impairment in discriminating their own fingers, writing by hand, distinguishing left from right and performing calculations. He claimed that this tetrad of symptoms constituted a syndromal entity, assigned it to a lesion of the dominant parietal lobe. Since than, Gerstmann`s syndrome (GS) was enigma for neuropsychologists. The aim of this study was to analyze frequency and clinical features of GS among acute stroke patient...

  8. Subgrouping Chronic Fatigue Syndrome Patients by Genetic and Immune Profiling

    Science.gov (United States)

    2014-10-01

    AWARD NUMBER: W81XWH-12-1-0388 TITLE: Subgrouping Chronic Fatigue Syndrome Patients by Genetic and Immune Profiling ...2014 4. TITLE AND SUBTITLE 5a. CONTRACT NUMBER Subgrouping Chronic Fatigue Syndrome Patients By Genetic And Immune Profiling 5b. GRANT...studying the results. We have finished the DNA isolation and anticipate the HLA testing to be completed this upcoming year. We want to interrogate the

  9. A STUDY OF KARTAGENER’S SYNDROME PATIENTS AMONG

    Directory of Open Access Journals (Sweden)

    Panchasheelan

    2014-06-01

    Full Text Available Situs inversus totalis (SIT entails a mirror-image reversal of all the asymmetrical structures of the body. Many people with situs inversus are unaware of the condition. Kartagener′s syndrome (KS is a subset of a larger group of ciliary motility disorders called primary ciliary dyskinesias, comprising a triad of situs inversus, bronchiectasis and sinusitis. We found 6 cases of Situs inversus totalis (SIT over one year period among admitted patients in our department at ESIC MC PGIMSR and on evaluation 2patients were found to have Kartagener′s syndrome (KS. As the syndrome is rare we hereby report the manifestations and findings in detail

  10. Prevalence of metabolic syndrome in Montenegrin patients with psoriasis

    Directory of Open Access Journals (Sweden)

    Ražnatović-Đurović Milena

    2016-01-01

    Full Text Available Background/Aim. Increasing epidemiological studies suggest the association between psoriasis and metabolic syndrome. The aim of this study was to assess the association of metabolic syndrome and its components with psoriasis in a sample of patients from Montenegro, and to predict the factors that determine the metabolic syndrome. Methods. A case-control study was conducted at the Clinic of Dermatology and Venereology, Clinical Center of Montenegro, Podgorica, Montenegro, between January and December 2012. The study group included 101 patients with psoriasis (cases and 126 patients with the diagnosis of dermatological disease other than psoriasis (controls consecutively admitted to the same clinic. Results. Metabolic syndrome was more prevalent in the psoriasis patients than in the controls (48.5% vs 20.6%; OR = 2.99. In addition, the psoriasis patients were significantly more likely to be smokers (OR = 2.16 and were less physically active (OR = 0.58. Conclusion. The results of this study demonstrate a strong association between psoriasis and metabolic syndrome independent of psoriasis severity. Patients with psoriasis should be routinely screened for metabolic syndrome and its components. [Projekat Ministarstva nauke Republike Srbije, br. 175025: Clinical-epidemiological research of diseases of public health importance in Serbia

  11. Gilles de la Tourette's syndrome in a patient with 47(XXX syndrome: a case report

    Directory of Open Access Journals (Sweden)

    Chiappedi Matteo

    2011-11-01

    Full Text Available Abstract Introduction To the best of our knowledge, this is the first report of a comorbidity between Gilles de la Tourette's syndrome and 47 (XXX syndrome. The clinical picture of Gilles de la Tourette's Syndrome is well described, while 47 (XXX syndrome is much more rare and has a broader spectrum of possible phenotypic presentations. Case presentation An Italian Caucasian girl was referred at the age of 11 to our Rehabilitation Center for anxiety and learning difficulties. The girl had already been diagnosed as having 47(XXX syndrome; she had some rather typical features of the chromosomal abnormality, but she also showed a high level of anxiety and the presence of motor and vocal tics. When an accurate history was taken, a diagnosis of Gilles de la Tourette's Syndrome emerged. Conclusions The possible interaction between peculiar features of these two syndromes in terms of neuropsychological and affective functioning is both interesting for the specific case and to hypothesize models of rehabilitation for patients with one or both syndromes. Executive functions are specifically reduced in both syndromes, therefore it might be hard to discriminate the contribution of each one to the general impairment; the same applies to anxiety. Moreover, mental retardation (with a significantly lower verbal cognitive functioning poses relevant problems when suggesting cognitive behavioral or psychoeducational rehabilitative approaches.

  12. Gilles de la Tourette's syndrome in a patient with 47(XXX) syndrome: a case report.

    Science.gov (United States)

    Chiappedi, Matteo; de Vincenzi, Silvia; Dolci, Roberta; De Luca, Sara; Bejor, Maurizio

    2011-11-05

    To the best of our knowledge, this is the first report of a comorbidity between Gilles de la Tourette's syndrome and 47 (XXX) syndrome. The clinical picture of Gilles de la Tourette's Syndrome is well described, while 47 (XXX) syndrome is much more rare and has a broader spectrum of possible phenotypic presentations. An Italian Caucasian girl was referred at the age of 11 to our Rehabilitation Center for anxiety and learning difficulties. The girl had already been diagnosed as having 47(XXX) syndrome; she had some rather typical features of the chromosomal abnormality, but she also showed a high level of anxiety and the presence of motor and vocal tics. When an accurate history was taken, a diagnosis of Gilles de la Tourette's Syndrome emerged. The possible interaction between peculiar features of these two syndromes in terms of neuropsychological and affective functioning is both interesting for the specific case and to hypothesize models of rehabilitation for patients with one or both syndromes. Executive functions are specifically reduced in both syndromes, therefore it might be hard to discriminate the contribution of each one to the general impairment; the same applies to anxiety. Moreover, mental retardation (with a significantly lower verbal cognitive functioning) poses relevant problems when suggesting cognitive behavioral or psychoeducational rehabilitative approaches.

  13. Dental Implants in Patients with Sjögren's Syndrome

    NARCIS (Netherlands)

    Korfage, Anke; Raghoebar, Gerry M; Arends, Suzanne; Meiners, Petra M; Visser, Anita; Kroese, Frans Gm; Bootsma, Hendrika; Vissink, Arjan

    2015-01-01

    BACKGROUND: Limited evidence is available for applying dental implants in Sjögren's syndrome (SS) patients. PURPOSE: This study aims to retrospectively assess clinical outcome of implant therapy in a cohort of well-classified patients with SS. MATERIALS AND METHODS: All SS patients attending the Uni

  14. The fecal microbiome in pediatric patients with short bowel syndrome

    Science.gov (United States)

    Changes in the intestinal microbiome of patients with short bowel syndrome (SBS) are thought to significantly affect clinical outcome. These changes may not only delay enteral diet advancement but may also predispose patients to bacterial translocation, bacteremia, and liver disease. Patients with S...

  15. Mycobacterium abscessus Lung Disease in a Patient with Kartagener Syndrome.

    Science.gov (United States)

    Kim, Jung Hoon; Song, Won Jun; Jun, Ji Eun; Ryu, Duck Hyun; Lee, Ji Eun; Jeong, Ho Jung; Jeong, Suk Hyeon; Kang, Hyung Koo; Kim, Jung Soo; Lee, Hyun; Chon, Hae Ri; Jeon, Kyeongman; Kim, Dohun; Kim, Jhingook; Koh, Won-Jung

    2014-09-01

    Primary ciliary dyskinesia (PCD) is characterized by the congenital impairment of mucociliary clearance. When accompanied by situs inversus, chronic sinusitis and bronchiectasis, PCD is known as Kartagener syndrome. The main consequence of impaired ciliary function is a reduced mucus clearance from the lungs, and susceptibility to chronic respiratory infections due to opportunistic pathogens, including nontuberculous mycobacteria (NTM). There has been no report of NTM lung disease combined with Kartagener syndrome in Korea. Here, we report an adult patient with Kartagener syndrome complicated with Mycobacterium abscessus lung disease. A 37-year-old female presented to our hospital with chronic cough and sputum. She was ultimately diagnosed with M. abscessus lung disease and Kartagener syndrome. M. abscessus was repeatedly isolated from sputum specimens collected from the patient, despite prolonged antibiotic treatment. The patient's condition improved and negative sputum culture conversion was achieved after sequential bilateral pulmonary resection.

  16. Epilepsy in patients with Angelman syndrome

    National Research Council Canada - National Science Library

    Fiumara, Agata; Pittalà, Annarita; Cocuzza, Mariadonatella; Sorge, Giovanni

    2010-01-01

    Angelman syndrome (AS) is a neuro-behavioural, genetically determined condition, characterized by ataxic jerky movements, happy sociable disposition and unprovoked bouts of laughter in association with seizures, learning...

  17. Hoffman syndrome: New patients, new insights.

    Science.gov (United States)

    Hügle, Boris; Hoffman, Hal; Bird, Lynne M; Gebauer, Corinna; Suchowerskyj, Philipp; Sack, Ulrich; Kohlhase, Jürgen; Schuster, Volker

    2011-01-01

    Hypogammaglobulinemia or agammaglobulinemia are major features of specific syndromes, including X-linked agammaglobulinemia and common variable immunodeficiency. However, the combination of hypogammaglobulinemia with specific dysmorphic features is less common, with only a few reported cases. One such report was a sporadic case of humoral immunodeficiency, facial dysmorphism, and limb anomalies in a young girl, later referred to as Hoffman syndrome. We report on a 7-year-old girl with almost complete loss of B cells, facial dysmorphism, and malformation of the limbs and genitalia, whose mother shows similar dysmorphic features with an attenuated version of the B-cell deficiency. We believe that all three cases described above represent the same condition. The features of the three affected individuals with Hoffman syndrome are reviewed. Further investigations in this recently recognized B-cell immunodeficiency syndrome are warranted.

  18. Prevalence of Burnout Syndrome in Patients Admitted with Acute Coronary Syndrome

    Directory of Open Access Journals (Sweden)

    Ana Cláudia Giaxa Prosdócimo

    2015-03-01

    Full Text Available Background: Burnout Syndrome is the extreme emotional response to chronic occupational stress, manifesting as physical and mental exhaustion. Although associated with higher prevalence of cardiovascular risk factors, no study so far has evaluated whether the Burnout Syndrome could be a prevalent factor in non-elderly individuals active in the labor market, admitted for acute coronary syndrome (ACS. Objective: To evaluate the prevalence of the Burnout Syndrome in non-elderly, economically active patients, hospitalized with ACS. Methods: Cross-sectional study conducted in a tertiary and private cardiology center, with economically active patients aged <65 years, hospitalized with diagnosis of ACS. The Burnout Syndrome was evaluated with the Burnout Syndrome Inventory (BSI, which assesses workplace conditions and four dimensions that characterize the syndrome: emotional exhaustion (EE, emotional distancing (EmD, dehumanization (De and professional fulfillment (PF. The Lipp’s Stress Symptoms Inventory for Adults (LSSI was applied to evaluate global stress. Results: Of 830 patients evaluated with suspected ACS, 170 met the study criteria, 90% of which were men, overall average age was 52 years, and 40.5% had an average income above 11 minimum wages. The prevalence of the Burnout Syndrome was 4.1%. When we evaluated each dimension individually, we found high EE in 34.7%, high De in 52.4%, high EDi in 30.6%, and low PF in 5.9%. The overall prevalence of stress was 87.5%. Conclusion: We found a low prevalence of Burnout Syndrome in an economically active, non-elderly population among patients admitted for ACS in a tertiary and private hospital.

  19. Serum 25-hydroxyvitamin D levels in restless legs syndrome patients.

    Science.gov (United States)

    Balaban, Hatice; Yıldız, Özlem Kayım; Çil, Gülsüm; Şentürk, İlteriş Ahmet; Erselcan, Taner; Bolayır, Ertuğrul; Topaktaş, Suat

    2012-08-01

    Restless legs syndrome is characterised by discomfort during rest and an urge to move the limbs that is accompanied by abnormal sensations. Studies on disease pathophysiology have focused on dopaminergic dysfunction. Vitamin D may play an important role in dopamine function, but the role of vitamin D in restless legs syndrome has not been examined. We compared the serum vitamin D levels of RLS patients and matched controls and explored the correlation of plasma vitamin D levels with disease severity. We measured serum 25-hydroxyvitamin D levels in 36 patients with restless legs syndrome and compared them to 38 healthy control subjects. The mean serum 25-hydroxyvitamin D levels were 7.31±4.63 ng/mL in female patients with restless legs syndrome and 12.31±5.27 ng/mL in female control subjects (p=0.001). We found a significant inverse correlation between vitamin D levels and disease severity in females (p=0.01, r=-0.47). The mean serum vitamin D levels were lower in female patients with restless legs syndrome. Low vitamin D levels may cause dopaminergic dysfunction in restless legs syndrome patients. Further studies are required to confirm these results. Copyright © 2012 Elsevier B.V. All rights reserved.

  20. Alien Limb Syndrome Responsive to Amantadine in a Patient with Corticobasal Syndrome

    Science.gov (United States)

    Gondim, Francisco de Assis Aquino; Tavares Júnior, José Wagner Leonel; Morais, Arlindo A.; Sales, Paulo Marcelo Gondim; Wagner, Horta Goes

    2015-01-01

    Background Corticobasal syndrome (CBS) is a complex neurodegenerative disorder associated with parkinsonism and alien limb syndrome. Dressing and ideomotor apraxia were reportedly responsive to amantadine. Case Report A 79-year-old female was referred for evaluation of right hemiparesis. Neurological examination showed dementia, normal ocular movements, mild facial hypomimia, and bradykinesia with right hemiparesis. Nine years later, she developed alien limb syndrome and was diagnosed with CBS. After failure to respond to several medications, alien limb syndrome markedly improved with amantadine. Discussion To the best of our knowledge, this is the first report of a consistent response of severe, forced dystonic alien limb syndrome to amantadine in a patient with CBS. PMID:26217545

  1. Increased prevalence of metabolic syndrome in patients with acne inversa.

    Directory of Open Access Journals (Sweden)

    Robert Sabat

    Full Text Available BACKGROUND: Acne inversa (AI; also designated as Hidradenitis suppurativa is a common chronic inflammatory skin disease, localized in the axillary, inguinal and perianal skin areas that causes painful, fistulating sinuses with malodorous purulence and scars. Several chronic inflammatory diseases are associated with the metabolic syndrome and its consequences including arteriosclerosis, coronary heart disease, myocardial infraction, and stroke. So far, the association of AI with systemic metabolic alterations is largely unexplored. METHODS AND FINDINGS: A hospital-based case-control study in 80 AI patients and 100 age- and sex-matched control participants was carried out. The prevalence of central obesity (odds ratio 5.88, hypertriglyceridemia (odds ratio 2.24, hypo-HDL-cholesterolemia (odds ratio 4.56, and hyperglycemia (odds ratio 4.09 in AI patients was significantly higher than in controls. Furthermore, the metabolic syndrome, previously defined as the presence of at least three of the five alterations listed above, was more common in those patients compared to controls (40.0% versus 13.0%; odds ratio 4.46, 95% confidence interval 2.02 to 9.96; P<0.001. AI patients with metabolic syndrome also had more pronounced metabolic alterations than controls with metabolic syndrome. Interestingly, there was no correlation between the severity or duration of the disease and the levels of respective parameters or the number of criteria defining the metabolic syndrome. Rather, the metabolic syndrome was observed in a disproportionately high percentage of young AI patients. CONCLUSIONS: This study shows for the first time that AI patients have a high prevalence of the metabolic syndrome and all of its criteria. It further suggests that the inflammation present in AI patients does not have a major impact on the development of metabolic alterations. Instead, evidence is given for a role of metabolic alterations in the development of AI. We recommend

  2. CHD7 mutations in patients initially diagnosed with Kallmann syndrome--the clinical overlap with CHARGE syndrome.

    NARCIS (Netherlands)

    Jongmans, M.C.J.; Ravenswaaij-Arts, C.M.A. van; Pitteloud, N.; Ogata, T.; Sato, N.; Claahsen-van der Grinten, H.L.; Donk, K. van der; Seminara, S.; Bergman, J.E.; Brunner, H.G.; Crowley, W.F.; Hoefsloot, L.H.

    2009-01-01

    Kallmann syndrome (KS) is the combination of hypogonadotropic hypogonadism and anosmia or hyposmia, two features that are also frequently present in CHARGE syndrome. CHARGE syndrome is caused by mutations in the CHD7 gene. We performed analysis of CHD7 in 36 patients with KS and 20 patients with

  3. CHD7 mutations in patients initially diagnosed with Kallmann syndrome--the clinical overlap with CHARGE syndrome.

    NARCIS (Netherlands)

    Jongmans, M.C.J.; Ravenswaaij-Arts, C.M.A. van; Pitteloud, N.; Ogata, T.; Sato, N.; Claahsen-van der Grinten, H.L.; Donk, K. van der; Seminara, S.; Bergman, J.E.; Brunner, H.G.; Crowley, W.F.; Hoefsloot, L.H.

    2009-01-01

    Kallmann syndrome (KS) is the combination of hypogonadotropic hypogonadism and anosmia or hyposmia, two features that are also frequently present in CHARGE syndrome. CHARGE syndrome is caused by mutations in the CHD7 gene. We performed analysis of CHD7 in 36 patients with KS and 20 patients with nor

  4. EULAR Sjogren's Syndrome Patient Reported Index (ESSPRI) : development of a consensus patient index for primary Sjogren's syndrome

    NARCIS (Netherlands)

    Seror, Raphaele; Ravaud, Philippe; Mariette, Xavier; Bootsma, Hendrika; Theander, Elke; Hansen, Arne; Ramos-Casals, Manel; Doerner, Thomas; Bombardieri, Stefano; Hachulla, Eric; Brun, Johan G.; Kruize, Aike A.; Praprotnik, Sonja; Tomsic, Matija; Gottenberg, Jacques-Eric; Devauchelle, Valerie; Devita, Salvatore; Vollenweider, Cristina; Mandl, Thomas; Tzioufas, Athanasios; Carsons, Steven; Saraux, Alain; Sutcliffe, Nurhan; Vitali, Claudio; Bowman, Simon J.

    2011-01-01

    Objectives To develop a score for assessment of patients' symptoms in primary Sjogren's syndrome (SS): the EULAR SS Patient Reported Index (ESSPRI). Methods Dryness, pain, somatic and mental fatigue were identified as the main symptoms of patients with primary SS, in studies developing the Profile o

  5. Primary Biliary Cirrhosis in A Patient with Turner Syndrome

    Directory of Open Access Journals (Sweden)

    Piotr Milkiewicz

    2005-01-01

    Full Text Available An increased prevalence of X chromosome monosomy has recently been demonstrated in patients with primary biliary cirrhosis (PBC. Chronic cholestasis of unknown etiology is a common clinical feature in patients with Turner syndrome who reach the fourth and fifth decades of life. A 37-year-old patient with Turner syndrome who presented with clinical and biochemical features of chronic cholestasis is described. Subsequent investigations confirmed the diagnosis of PBC. The patient did not respond to the medical treatment and was referred for liver transplant assessment. The present case may support the importance of X chromosome genes in the development of genetic predisposition to PBC, and emphasizes the necessity for a systematic study of the prevalence of PBC in patients with Turner syndrome.

  6. [Features of the periodontal pathology at patients with metabolic syndrome].

    Science.gov (United States)

    Ermolaeva, L A; Shishkin, A N; Sheveleva, N A; Penkovoi, E A; Sheveleva, M A; Sokolovich, N A; Khabarova, O V; Mihailova, E S

    2016-01-01

    The purpose of this article is to familiarize readers on the relationship between metabolic syndrome and periodontitis, as well as common pathogenetic processes underlying these diseases. The data of modern researches, devoted to the correlation of lesions of periodontal and systemic diseases associated with metabolic syndrome. In the article analyzed also the data of the original study of the interaction of periodontitis and metabolic syndrome, which also used special methods of examination like Doppler ultrasound microcirculatory vasculature of the periodontal tissues and ultrasound densitometry. The possible methods of diagnostics of a condition of periodontal tissues in patients with metabolic syndrome are considered. Conclusions about the relationship of each component of metabolic syndrome with periodontitis are made.

  7. Radioactive caesium in hunters and their families

    Energy Technology Data Exchange (ETDEWEB)

    Aagren, G.; Bergman, R. [Natonal Defence Research Establishment, Umeaa (Sweden); Drottz-Sjoeberg, B.M. [Center for Risk Research, Stockholm (Sweden); Enander, A. [National Defence Research Establishment, Karlstad (Sweden); Johansson, K.J. [Swedish Univ. of Agricultural Sciences, Uppsala (Sweden)

    1995-12-01

    We have measured the whole-body content of radiocesium in men and women in households, where at least one member is a hunter. Hunter families live to a great extent on forest products, such as mushrooms, berries and meat from game. Measurements were performed in two areas in northern Sweden and in three areas in the middle part of Sweden with deposition levels between 7 to 80 kBq/m{sup 2}. The average whole body content of {sup 137}Cs varied between 0.3 to 1.9 kBq for women and 0.6 to 4.7 kBq for men, depending on the deposition level. Each individual in the measured group was also asked to fill in questionnaire and a food diary to provide complementary information of, e.g., food intake and other life conditions. The single dietary factor most clearly related to whole-body content in these groups is the intake of meat from moose. The best regression model with variables from the questionnaire explained 60% of the variance in the whole-body content of {sup 137}Cs in the measurement group. Some of the variables in this model were deposition level, sex, rate of intake and estimated consumption of moose meat and estimated amount of bilberries in the fridge. 6 refs, 5 figs, 14 tabs.

  8. Prevalence of Burnout Syndrome in Patients Admitted with Acute Coronary Syndrome

    Science.gov (United States)

    Prosdócimo, Ana Cláudia Giaxa; Lucina, Luciane Boreki; Marcia, Olandoski; Jobs, Priscila Megda João; Schio, Nicolle Amboni; Baldanzi, Fernanda Fachin; Costantini, Costantino Ortiz; Benevides-Pereira, Ana Maria Teresa; Guarita-Souza, Luiz Cesar; Faria-Neto, José Rocha

    2015-01-01

    Background Burnout Syndrome is the extreme emotional response to chronic occupational stress, manifesting as physical and mental exhaustion. Although associated with higher prevalence of cardiovascular risk factors, no study so far has evaluated whether the Burnout Syndrome could be a prevalent factor in non-elderly individuals active in the labor market, admitted for acute coronary syndrome (ACS). Objective To evaluate the prevalence of the Burnout Syndrome in non-elderly, economically active patients, hospitalized with ACS. Methods Cross-sectional study conducted in a tertiary and private cardiology center, with economically active patients aged dehumanization (De) and professional fulfillment (PF). The Lipp’s Stress Symptoms Inventory for Adults (LSSI) was applied to evaluate global stress. Results Of 830 patients evaluated with suspected ACS, 170 met the study criteria, 90% of which were men, overall average age was 52 years, and 40.5% had an average income above 11 minimum wages. The prevalence of the Burnout Syndrome was 4.1%. When we evaluated each dimension individually, we found high EE in 34.7%, high De in 52.4%, high EDi in 30.6%, and low PF in 5.9%. The overall prevalence of stress was 87.5%. Conclusion We found a low prevalence of Burnout Syndrome in an economically active, non-elderly population among patients admitted for ACS in a tertiary and private hospital. PMID:25517388

  9. Duck hunters' perceptions of risk for avian influenza, Georgia, USA.

    Science.gov (United States)

    Dishman, Hope; Stallknecht, David; Cole, Dana

    2010-08-01

    To determine duck hunters'risk for highly pathogenic avian influenza, we surveyed duck hunters in Georgia, USA, during 2007-2008, about their knowledge, attitudes, and practices. We found they engage in several practices that could expose them to the virus. Exposures and awareness were highest for those who had hunted >10 years.

  10. Play as a Foundation for Hunter-Gatherer Social Existence

    Science.gov (United States)

    Gray, Peter

    2009-01-01

    The author offers the thesis that hunter-gatherers promoted, through cultural means, the playful side of their human nature and this made possible their egalitarian, nonautocratic, intensely cooperative ways of living. Hunter-gatherer bands, with their fluid membership, are likened to social-play groups, which people could freely join or leave.…

  11. Attribute-based analysis of hunters' lease preferences.

    Science.gov (United States)

    Hussain, Anwar; Munn, Ian A; Hudson, Darren; West, Ben

    2010-12-01

    Understanding of hunter preferences for hunting lease attributes is important to landowners because such knowledge provides key information for managing and marketing fee-hunting in order to maximize revenues. Premised on this insight, we used attribute based modeling to investigate how hunter preferences for potential leases were influenced by lease and hunter-specific attributes. A mail survey of Mississippi licensed hunters provided the necessary data. Estimation results based on McFadden conditional logit regression suggested that lease attributes including game diversity, lease location relative to hunter residence, lease size, lease duration and lease rate influenced willingness to pay for additional units of lease attributes. Depending on the specific levels of these attributes, WTP could vary as much as $5.70 per acre. Of the hunter-specific attributes, age and income significantly influenced hunter decision to buy a lease or opt for status quo. Results of this study should assist landowners in increasing financial returns from fee-hunting endeavors through appropriate changes to their hunting access policies and wildlife management activities in response to hunter preferences regarding lease attributes.

  12. Wild boar hunters profile in Shimane prefecture, western Japan

    Directory of Open Access Journals (Sweden)

    Ueda, G.

    2005-12-01

    Full Text Available Wild boars have been expanding their range and seriously damage agricultural crops all over Japan. Such situation is obvious in Shimane Prefecture, western end of Honshu Island, where most of its territory is mountainous. Populaton control is strongly expected by farmers and administration. However, the number of hunters has been drastically decreasing since the 1970’s. To maintain and increase hunters, we must investigate their activities and attitudes to clarify the problems. Questionnaires were conducted in 2001 on 310 hunters who renewed their hunting license at local office. The response rate was 80.0%. Wild boar hunters accounted for 61.6%, and the others were mostly bird hunters (32.5%. The objective of wild boar hunting was predominantly nuisance control, and very few hunted for money despite of its high commercial value. Most of them were farmers (35.8% and/or farm village dwellers (53.6%, and used the leg snare (61.4%. Despite the stable number of hunters, the number of hunters using guns is decreasing. Hunters do not to appear to be interested in maintaining the local hunting society. Leisure is the most pursued objective rather nuisance control. Therefore, actions should be taken to stimulate hunting as a leisure activity thus maintaining an important tool for wild boar management.

  13. 78 FR 77113 - Bakken Hunter, LLC; Notice of Application

    Science.gov (United States)

    2013-12-20

    ... From the Federal Register Online via the Government Publishing Office DEPARTMENT OF ENERGY Federal Energy Regulatory Commission Bakken Hunter, LLC; Notice of Application Take notice that on December 2, 2013 Bakken Hunter, LLC (Bakken), 410 17th Street, Denver, Colorado 80202, filed in Docket No....

  14. Speckle-tracking imaging in patients with Eisenmenger syndrome.

    Science.gov (United States)

    Moceri, Pamela; Iriart, Xavier; Bouvier, Priscille; Baudouy, Delphine; Gibelin, Pierre; Saady, Redouane; Laïk, Jeremy; Cerboni, Pierre; Thambo, Jean-Benoit; Ferrari, Emile

    2016-02-01

    Adults with Eisenmenger syndrome have a survival advantage over those with idiopathic pulmonary arterial hypertension. Improved survival may result from preservation of right ventricular (RV) function. To assess left ventricular (LV) and RV remodelling in patients with Eisenmenger syndrome compared to a control population, using speckle-tracking imaging. Adults with Eisenmenger syndrome and healthy controls were enrolled into this prospective two-centre study. Patients with Eisenmenger syndrome with low acoustic windows, irregular heart rhythm or complex congenital heart disease were excluded. Clinical assessment, B-type natriuretic peptide (BNP), 6-minute walk test and echocardiography (including dedicated views to perform offline two-dimensional-speckle-tracking analysis) were performed on inclusion. Our patient population (n=37; mean age 42.3 ± 17 years) was mostly composed of patients with ventricular septal defect (37.8%) or atrial septal defect (35.1%). Compared with the control population (n=30), patients with Eisenmenger syndrome had reduced global LV longitudinal strain (-17.4 ± 3.5 vs. -22.4 ± 2.3; Pspeckle-tracking imaging, differ between patients with pre- and post-tricuspid shunt. Copyright © 2015 Elsevier Masson SAS. All rights reserved.

  15. Clinical report of 28 patients with Sheehan's syndrome.

    Science.gov (United States)

    Sert, Murat; Tetiker, Tamer; Kirim, Sinan; Kocak, Mustafa

    2003-06-01

    The aim of the present study was to determine the clinical and hormonal characteristics with Sheehan's syndrome in 28 cases that we had diagnosed and followed in the last 20 years. Twenty-eight patients with Sheehan's syndrome, diagnosed and followed at our University Endocrinology Clinic in the last 20 years were reported in the study. Medical history, physical examination, routine laboratory examinations, pituitary hormone analysis, CT and/or MRI scan of the sella of the patients were reviewed. All patients had a history of massive hemorrhage at delivery and physical signs of Sheehan's syndrome. Twenty-six of them lacked postpartum milk production, followed by failure of resumption of menses. There were 9 subjects with disturbances in consciousness associated with hyponatremia on admittance. All 28 patients had secondary hypothyroidism, adrenal cortex failure, hypogonadotrophic hypogonadism and growth hormone deficiency. Diabetes insipidus has not been found in any patient. Empty sellae were revealed in 8 patients by CT and/or MRI scan. Sheehan's syndrome is still encountered in clinical practice occasionally. If not diagnosed early, it could cause increased morbidity and mortality. The most important clues for diagnosis of Sheehan's syndrome are lack of lactation and failure of menstrual resumption after a delivery complicated with severe hemorrhage.

  16. Characteristic features of 20 patients with Sheehan's syndrome.

    Science.gov (United States)

    Dökmetaş, Hatice Sebila; Kilicli, Fatih; Korkmaz, Serdal; Yonem, Ozlem

    2006-05-01

    Sheehan's syndrome occurs as a result of ischemic pituitary necrosis due to severe postpartum hemorrhage. The aim of the present study was to determine the clinical characteristics of Sheehan's syndrome in 20 patients (mean age 60.15 +/- 3.41 years) with typical obstetric history. The mean duration between time of diagnosis and date of the last delivery was 26.82 +/- 2.52 years (range 2-40 years). All patients had a history of massive hemorrhage at delivery and physical signs of Sheehan's syndrome. Fourteen patients (70.0%) lacked postpartum milk production and did not menstruate following delivery. Baseline and stimulated anterior pituitary hormone levels were measured in all patients. According to the hormonal values, 18 (90.0%) patients had secondary hypothyroidism, 11 (55.0%) had adrenal failure and all of them had hypogonadism, prolactin and growth hormone deficiency. Hyponatremia was present in seven patients (35.0%). Total or partially empty sella was revealed in all patients by magnetic resonance imaging. Diabetes insipidus was not found in any patient. We found that lack of lactation in the postpartum period and early menopause seemed the most important clues for diagnosis of Sheehan's syndrome, and inadequate prolactin and gonadotropin responses to stimulation tests were the most sensitive diagnostic signs in patients with severe postpartum hemorrhage.

  17. Sodium and water disturbances in patients with Sheehan's syndrome.

    Science.gov (United States)

    Pham, P C; Pham, P A; Pham, P T

    2001-09-01

    Sheehan's syndrome has been attributed to ischemic damage of the pituitary gland or hypothalamic-pituitary stalk during the peripartum period. Well-described clinical features of Sheehan's syndrome include hypothyroidism, adrenal insufficiency, hypogonadism, growth hormone deficiency, hypoprolactinemia, and different sodium and water disturbances. The occurrence of sodium and water disturbances associated with Sheehan's syndrome depends on the degree of pituitary damage, time of onset since the initial pituitary insult, and concurrent medical conditions that also may play a role in sodium and water balance. We present a patient with Sheehan's syndrome with severe chronic hyponatremia; discuss a potential problem in the patient's management; and review the literature for various sodium and water disturbances, including acute and chronic hyponatremia as well as overt and subclinical central diabetes insipidus. Although Sheehan's syndrome is more prevalent in developing countries, the increasingly large immigrant population within the United States warrants better awareness of this syndrome and its potential complicating sodium and water disturbances. Prompt diagnosis and an understanding of the pathogenic mechanisms of sodium and water disturbances associated with Sheehan's syndrome may avoid potential treatment-related complications.

  18. Cyclic Bicytopenia in a Patient with Shapiro Syndrome

    Directory of Open Access Journals (Sweden)

    Lindsey E. Roeker

    2013-01-01

    Full Text Available Shapiro syndrome and periodic hypothermia have been reported approximately fifty times in the literature. Shapiro syndrome is defined as the constellation of periodic hypothermia and hyperhidrosis along with agenesis of the corpus callosum by Shapiro et al. in 1969. Periodic hypothermia is a more broad diagnosis with a number of proposed mechanisms; it occurs in patients without structural brain abnormalities. Hematologic abnormalities beyond iron-deficiency anemia have not been documented in any of the reported cases of Shapiro syndrome or periodic hypothermia. Though accidental and therapeutic hypothermia have been associated with thrombocytopenia, this is, to our knowledge, the first reported case of periodic intrinsic hypothermia causing bicytopenia. In this report, we present the case of a patient with Shapiro syndrome who experienced cyclic bicytopenia mirroring hypothermic episodes. We address the differential diagnosis of bicytopenia, review the mechanisms proposed for cytopenias related to hypothermia, and propose possible mechanisms for the finding in this case.

  19. Ganglioneuroma of adrenal gland in a patient with Turner syndrome.

    Science.gov (United States)

    Kamoun, Mahdi; Mnif, Mouna Feki; Rekik, Nabila; Belguith, Neila; Charfi, Nadia; Mnif, Lilia; Elleuch, Mouna; Mnif, Fatma; Kamoun, Thouraya; Mnif, Zeinab; Kamoun, Hassen; Sellami-Boudawara, Tahia; Hachicha, Mongia; Abid, Mohamed

    2010-04-01

    A 15-year-old girl with Turner syndrome was unexpectedly found to have a left suprarenal mass. Extensive investigations showed a clinically and biochemically inapparent mass. Computed tomography disclosed a well-defined solid lesion in the left adrenal measuring 6.5 x 5 cm with minimal contrast enhancement. Laparoscopic adrenalectomy was done. Histologic examination revealed an encapsulated mass originated from the left adrenal medulla. Tumor tissue comprised abundant collagen fibers and spindloid cells admixed with mature ganglion cells. The tumor was diagnosed as left adrenal ganglioneuroma. According to literature, we report the eighth case of ganglioneuroma complicating Turner syndrome. Patients with this syndrome are predisposed to the development of neuroblastoma and related tumors. Reasons for this predisposition might relate to genetic and hormonal factors. Given that these tumors are often limited stage and of good prognosis, we recommend their screening in all patients with Turner syndrome.

  20. Craniofacial morphology in Turner syndrome patients treated with growth hormone

    Directory of Open Access Journals (Sweden)

    Jovana Julsoki

    2015-05-01

    Full Text Available ABSTRACT Introduction: In addition to well-established physical characteristics, Turner syndrome patients have distinct craniofacial morphology. Since short stature is the most typical characteristic, Turner syndrome patients are commonly treated with growth hormone in order to increase final height. At the same time, growth hormone treatment was found to influence craniofacial growth and morphology in various groups of treated patients. Whereas craniofacial characteristics of Turner syndrome patients are well documented, comparatively little is known of craniofacial morphology of those who are treated with growth hormone. Aim: The aim of this study was to investigate craniofacial morphology in Turner syndrome patients treated with growth hormone in comparison to healthy females. Materials and methods: The cephalometric evaluation was conducted on twenty lateral cephalograms of Turner syndrome patients (13.53 ± 4.04 years treated with growth hormone for at least one year (4.94 ± 1.92 years in average. As a control group, forty lateral cephalograms of healthy female controls, who matched Turner syndrome patients by chronological (11.80 ± 2.37 years and skeletal age, were used. Eleven angular, seven linear measurements and six dimensional ratios were measured to describe craniofacial morphology. Results: The results obtained for angular measurements, in cephalometric analyses for Turner syndrome patients treated with growth hormone, revealed bimaxillary retrognathism. The linear measurements indicated longer mandibular ramus, anterior cranial base and both anterior and posterior facial heights. However, posterior cranial base and maxilla were in proportion to the anterior cranial base, when comparing dimensional ratios. Anterior cranial base, maxilla and mandibular ramus were larger in proportion to mandibular body; as well as posterior facial height was when compared to anterior facial height. Turner syndrome patients treated with growth

  1. Why do good hunters have higher reproductive success?

    Science.gov (United States)

    Smith, Eric Alden

    2004-12-01

    Anecdotal evidence from many hunter-gatherer societies suggests that successful hunters experience higher prestige and greater reproductive success. Detailed quantitative data on these patterns are now available for five widely dispersed cases (Ache, Hadza, !Kung, Lamalera, and Meriam) and indicate that better hunters exhibit higher age-corrected reproductive success than other men in their social group. Leading explanations to account for this pattern are: (1) direct provisioning of hunters' wives and offspring, (2) dyadic reciprocity, (3) indirect reciprocity, (4) costly signaling, and (5) phenotypic correlation. I examine the qualitative and quantitative evidence bearing on these explanations and conclude that although none can be definitively rejected, extensive and apparently unconditional sharing of large game somewhat weakens the first three explanations. The costly signaling explanation has support in some cases, although the exact nature of the benefits gained from mating or allying with or deferring to better hunters needs further study.

  2. Noonan syndrome: a clinical and genetic study of 31 patients

    Directory of Open Access Journals (Sweden)

    Bertola Débora Romeo

    1999-01-01

    Full Text Available Noonan syndrome is a multiple congenital anomaly syndrome, inherited in an autosomal dominant pattern. We studied 31 patients (18 males and 13 females affected by this disorder regarding their clinical and genetic characteristics. The most frequent clinical findings were short stature (71%; craniofacial dysmorphisms, especially hypertelorism, ptosis, downslanting of the palpebral fissures; short or webbed neck (87%; cardiac anomalies (65%, and fetal pads in fingers and toes (70%. After studying the probands' first-degree relatives, we made the diagnosis of Noonan syndrome in more than one family member in three families. Therefore, the majority of our cases were sporadic.

  3. Culture-bound syndromes in Hispanic primary care patients.

    Science.gov (United States)

    Bayles, Bryan P; Katerndahl, David A

    2009-01-01

    We sought to document Hispanic primary care patients' knowledge and experience of five culture-bound syndromes (CBS), as well as the basic socio-cultural correlates of these disorders. A convenience sample of 100 adult Hispanic patients presenting in an urban South Texas primary care clinic was recruited to complete a brief cross-sectional survey, presented in an oral format. Interviews sought information concerning five culture-bound syndromes--susto, empacho, nervios, mal de ojo, and ataques de nervios. Additional demographic, socio-economic, and acculturation data was collected. Descriptive and bivariate statistics (chi square, Fisher's) were used to assess relationships among variables and experience with each CBS. A multivariate logistic analysis was conducted to determine the possible contributions of age, gender, acculturation, and education to the personal experience of a culture-bound syndrome. Results indicate that 77% of respondents had knowledge of all five syndromes, with 42% reporting having personally experienced at least one CBS. Nervios was the most commonly suffered disorder, being reported by 30 respondents. This was followed, in declining order ofprevalence, by susto, mal de ojo, empacho, and ataques de nervios. Multivariate logistic regression analysis found that higher education beyond high school was associated with a slightly decreased likelihood of reporting having suffered from any culture-bound syndrome. While co-occurrence among these disorders occurred, the patterns of predictors suggest that the co-occurrence is not a reflection of mislabeling of one common syndrome. Knowledge of and experience with culture-bound syndromes is common among Hispanic primary care patients in South Texas. Healthcare providers ought to consider discussing these illnesses in a non-judgmental manner with patients who present with symptoms that are consistent with these syndromes. Future studies, with larger sample sizes, are warranted to elucidate the nature

  4. Psychological correlates and psychiatric morbidity in patients with Dhat syndrome

    OpenAIRE

    Grover, Sandeep; Gupta, Sunil; Avasthi, Ajit

    2015-01-01

    Aim: The aim of this study was to examine psychological factors in the form of somatosensory amplification, alexithymia and hypochondriasis in patients with Dhat syndrome. Secondary aims of the study were: (1) To evaluate the influence of psychiatric comorbidity on the psychological correlates; (2) to compare the prevalence of psychological correlates in those with Dhat syndrome and in those with depression and somatoform disorders. Materials and Methods: A total of 106 subjects diagnosed wit...

  5. Anesthetic Management of a Patient With Jarcho-Levin Syndrome

    Directory of Open Access Journals (Sweden)

    Gamze Küçükosman

    2016-06-01

    Full Text Available Jarcho-Levin syndrome (JLS is a rare disease involving costovertebral anomalies and is accompanied by hydrocephalus, neural tube defect, and cardiac, renal and gastrointestinal problems. Due to respiratory system pathologies, there is a high mortality rate at young ages. Due to its rarity and little information in the literature related to anesthetic practice for this syndrome, we present our anesthetic experience of inguinal hernia surgery in a patient with JLS.

  6. Geriatric syndromes in peri-operative elderly cancer patients.

    Science.gov (United States)

    Cicerchia, Marcella; Ceci, Moira; Locatelli, Carola; Gianni, Walter; Repetto, Lazzaro

    2010-09-01

    Due to the expanding geriatric population and the high incidence of cancer in this age group, there is an increased burden on clinical oncologists. Elderly patients suffer from one or more chronic diseases, especially cardiovascular diseases, COPD, or diabetes. Besides affecting life expectancy, comorbid conditions may complicate major surgery. Accurate prediction of surgical risk is of paramount importance. Numerous papers have documented that older patients can undergo surgery with similar cancer related survival to younger patients. It has been demonstrated that age related variables are associated with an increased risk in post-surgical complications. The term "geriatric syndrome" needs further clinical evaluation and understanding. It is used to capture those clinical conditions in older persons that do not fit into discrete disease categories. Geriatric syndromes including delirium, falls, frailty, dizziness, syncope and urinary incontinence, are among the most common conditions facing geriatricians. This article focuses on geriatric syndromes in post-surgical patients and their management.

  7. Acute coronary syndrome among older patients: a review.

    Science.gov (United States)

    Veerasamy, Murugapathy; Edwards, Richard; Ford, Gary; Kirkwood, Tom; Newton, Julia; Jones, Dave; Kunadian, Vijay

    2015-01-01

    Ischemic heart disease is the leading cause of mortality worldwide. Due to advances in medicine in the past few decades, life expectancy has increased resulting in an aging population in developed and developing countries. Acute coronary syndrome causes greater morbidity and mortality in this group of older patients, which appears to be due to age-related comorbidities. This review examines the incidence and prevalence of acute coronary syndrome among older patients, examines current treatment strategies, and evaluates the predictors of adverse outcomes. In particular, the impact of frailty on outcomes and the need for frailty assessment in developing future research and management strategies among older patients are discussed.

  8. Neuroleptic Malignant Syndrome in a Patient with Corticobasal Degeneration

    Directory of Open Access Journals (Sweden)

    Myung Jun Lee

    2011-10-01

    Full Text Available Parkinson’s disease is a principal underlying disease of neuroleptic malignant syndrome (NMS occurring in parkinsonian disorders, but NMS may occur in patients with progressive supranuclear palsy and multiple system atrophy. We report first patient with corticobasal degeneration (CBD who developed NMS after abrupt reduction of antiparkinsonian medication and concurrent infection. It should be kept in mind that the prevention of infectious illness, which is common complication in parkinson-plus syndrome, is important, and dose reduction or withdrawal of anti-parkinsonian medications should be carefully performed even in the patients with CBD who are expected to be unresponsive to levodopa treatment.

  9. FISH analysis in Prader-Willi and Angelman syndrome patients

    Energy Technology Data Exchange (ETDEWEB)

    Bettio, D.; Rizzi, N.; Giardino, D. [Centro Auxologico Italiano, Milan (Italy)] [and others

    1995-03-27

    We report on a combined high resolution cytogenetic and fluorescent in situ hybridization study (FISH) on 15 Prader-Willi syndrome (PWS) and 14 Angelman syndrome (AS) patients. High resolution banding showed a microdeletion in the 15q11-q13 region in 7 out of 15 PWS patients, and FISH analysis of the D15S11 and SNRPN cosmids demonstrated absence of the critical region in three additional cases. Likewise 8 out of 14 AS patients were found to be deleted with FISH, using the GABRB3 specific cosmid, whereas only 4 of them had a cytogenetically detectable deletion. 19 refs., 3 figs., 1 tab.

  10. Neuroleptic malignant syndrome in a patient with corticobasal degeneration.

    Science.gov (United States)

    Lee, Myung Jun; Lyoo, Chul Hyoung; Lee, Myung Sik

    2011-10-01

    Parkinson's disease is a principal underlying disease of neuroleptic malignant syndrome (NMS) occurring in parkinsonian disorders, but NMS may occur in patients with progressive supranuclear palsy and multiple system atrophy. We report first patient with corticobasal degeneration (CBD) who developed NMS after abrupt reduction of antiparkinsonian medication and concurrent infection. It should be kept in mind that the prevention of infectious illness, which is common complication in parkinson-plus syndrome, is important, and dose reduction or withdrawal of anti-parkinsonian medications should be carefully performed even in the patients with CBD who are expected to be unresponsive to levodopa treatment.

  11. Elevated Energy Production in Chronic Fatigue Syndrome Patients

    OpenAIRE

    Lawson, Nick; Hsieh, Chung-Han; March, Dana; Wang, Xinnan

    2016-01-01

    Chronic Fatigue Syndrome (CFS) is a debilitating disease characterized by physical and mental exhaustion. The underlying pathogenesis is unknown, but impairments in certain mitochondrial functions have been found in some CFS patients. To thoroughly reveal mitochondrial deficiencies in CFS patients, here we examine the key aspects of mitochondrial function in blood cells from a paired CFS patient-control series. Surprisingly, we discover that in patients the ATP levels are higher and mitochond...

  12. Acute Pulmonary Edema in Patients with Cushing’s Syndrome

    Directory of Open Access Journals (Sweden)

    Mitra Niafar

    2015-01-01

    Full Text Available IntroductionDyspnea refers to difficulty in breathing, and short and shallow breaths. This sign is seen in numerous diseases due to pulmonary, cardiac, metabolic and neurological causes. Among cardiac causes, heart failure is considered the main cause of dyspnea.Cardiac failure is a clinical syndrome associated with a set of symptoms (dyspnea, and fatigue and signs (edema and rales. Common causes of cardiac failure include: myocardial infarction, ischemic heart disease, hypertension, valvular heart diseases, and cardiomyopathy. Among uncommon causes of heart failure, endocrine disorders such as Cushing’s syndrome can be cited. Cushing’s syndrome can present itself in less common forms such as dyspnea due to heart failure. Cushing’s syndrome’s cardiovascular complications usually occur due to hypertension, end organ damage such as left ventricular heart failure, diastolic and ischemic myocardial heart failure, which are rather seen in chronic cases of the disease and are often irreversible.Transient heart failure in patients with Cushing’s syndrome, due to adrenal adenoma, has been reported in a number of patients. In this case report, a patient is introduced who presented to emergency department with severe dyspnea (FC III, and was ultimately diagnosed with Cushing’s syndrome after work up. Three months after treatment of Cushing’s syndrome, dramatic improvement was observed in this patient’s cardiac function.

  13. Longitudinal Neuropsychological Profile in a Patient with Triple A Syndrome

    Directory of Open Access Journals (Sweden)

    Luigi Mazzone

    2013-01-01

    Full Text Available Triple A syndrome is an autosomal recessive disorder characterized by the triad of adrenocorticotropic hormone resistant adrenal insufficiency, achalasia, and alacrima. Our aim was to describe the neuropsychological characteristics and the cooccurring psychopathological and neurological disorders in an Italian male child suffering from Triple A syndrome at the time of admission (T0 and after one year of follow-up (T1. Many difficulties were observed in the motor domain, as well as in manual dexterity and static/dynamic balance domains of the motor task over time. In sharp contrast with previous literature reports on frequent mild cognitive dysfunction in patients with Triple A syndrome, our child did not show any mental retardation. By contrast, he showed an average IQ at T0 with a slight improvement at T1. To our knowledge, this report is the first describing neuropsychological profile and co-occurring psychopathological problems in a child with Triple A syndrome. Considering that the Triple A syndrome is a progressive disorder which can take years to develop the full-blown clinical picture, these patients require periodical medical controls. Moreover, assessment of neuropsychological and psychopathological features should be performed in patients with this disease, in order to underline the variability of this syndrome.

  14. Hypercalcemia in a patient with autoimmune polyglandular syndrome

    Directory of Open Access Journals (Sweden)

    Svetlana Katsnelson

    2012-04-01

    Full Text Available Hypercalcemia is a rare condition in patients with autoimmune polyglandular syndrome (APS-1, usually characterized by hypoparathyroidism and hypocalcemia, and it can develop due to simultaneous adrenal insufficiency. We present a case of severe hypercalcemia in a patient with APS-1, found to have adrenal insufficiency secondary to steroid non-compliance.

  15. Endoscopic bilateral adrenalectomy in patients with ectopic Cushing's syndrome

    NARCIS (Netherlands)

    W.J. Alberda (Wijnand); C.H.J. van Eijck (Casper); R.A. Feelders (Richard); G. Kazemier (Geert); W.W. de Herder (Wouter); J.W.A. Burger (Jacobus)

    2012-01-01

    textabstractBackground: Bilateral adrenalectomy (BLA) is a treatment option to alleviate symptoms in patients with ectopic Cushing's syndrome (ECS) for whom surgical treatment of the responsible nonpituitary tumor is not possible. ECS patients have an increased risk for complications, because of

  16. Treatment of Dientamoeba fragilis in patients with irritable bowel syndrome

    DEFF Research Database (Denmark)

    Engsbro, Anne Line; Stensvold, C Rune; Nielsen, Henrik V

    2012-01-01

    The role of Dientamoeba fragilis in irritable bowel syndrome (IBS) is incompletely known. We aimed to investigate whether eradication of D. fragilis alleviates symptoms in IBS. Twenty-five D. fragilis-positive IBS patients were treated with Metronidazole (MZ) or Tetracycline. The patients were...

  17. Postural Strategies in Prader-Willi and Down Syndrome Patients

    Science.gov (United States)

    Cimolin, Veronica; Galli, Manuela; Grugni, Graziano; Vismara, Luca; Precilios, Helmer; Albertini, Giorgio; Rigoldi, Chiara; Capodaglio, Paolo

    2011-01-01

    Patients affected by Down (DS) and Prader-Willi syndrome (PWS) are characterised by some common clinical and functional features including gait disorders and reduced postural control. The aim of our study was to quantitatively compare postural control in adult PWS and DS. We studied 12 PWS and 19 DS adult patients matched for age, height, weight…

  18. Pregnancy in a patient with Goodpasture syndrome and renal transplantation.

    Science.gov (United States)

    Wells, S R; Kuller, J A; Thorp, J M

    1996-02-01

    Patients with Goodpasture syndrome have classically had decreased fertility and associated pregnancy wastage. Renal transplantation can increase the likelihood of successful pregnancy. We describe a patient who carried a pregnancy into the third trimester and had a good neonatal outcome. However, she developed superimposed preeclampsia with subsequent graft rejection.

  19. Hype or Reality: Should Patients with Metabolic Syndrome-related NAFLD be on the Hunter-Gatherer (Paleo) Diet to Decrease Morbidity?

    Science.gov (United States)

    Tarantino, Giovanni; Citro, Vincenzo; Finelli, Carmine

    2015-09-01

    The current Western diet figures centrally in the pathogenesis of several chronic diseases such as obesity, type 2 diabetes, cardiovascular disease and the emerging major health problem nonalcoholic fatty liver disease, all of them negatively impacting on life expectancy. This type of diet is represented by a high calorie uptake, high glycemic load, high fat and meat intake, as well as increased consumption of fructose. On the contrary, a simplified way of eating healthily by excluding highly-processed foods, is presumed to be the Paleolithic diet (a diet based on vegetables, fruits, nuts, roots, meat, organ meats) which improves insulin resistance, ameliorates dyslipidemia, reduces hypertension and may reduce the risk of age-related diseases. The diet is the foundation of the treatment of obesity- and type 2 diabetes-related nonalcoholic fatty liver disease and a diet similar to those of pre-agricultural societies may be an effective option. To lend sufficient credence to this type of diet, well-designed studies are needed.

  20. [Oral allergy syndrome among patients with birch pollinosis in Sapporo].

    Science.gov (United States)

    Yamamoto, Tetsuo; Asakura, Kohji; Shirasaki, Hideaki; Himi, Tetsuo; Ogasawara, Hideki; Narita, Shin-Ichirou; Kataura, Akikatsu

    2004-04-01

    We evaluated the relationships between oral and pharyngeal hypersensitivity to fruits and vegetables (oral allergy syndrome) and birch pollinosis in 2003 in Sapporo. 1. Of 153 patients with birch pollinosis (seasonal nasal or ocular symptom and CAP positive [birch pollen CAP score 2 or more]), 65 patients (42%) have episode of oral allergy syndrome (OAS). And that rate in 2003 was higher than in 1992 and was equal to in 1998. 2. Among birch pollinosis patients, the higher the CAP score of birch pollen, the higher the prevalences of OAS were found to be. 3. Among birch pollinosis patients, female have OAS much more than male. 4. Among birch pollinosis patients in 1998, patients who visited to ENT clinic for medical consultation of birch pollinosis in March and April have OAS much more than patients who visited in May and June.

  1. Speech outcomes following pharyngeal flap in patients with velocardiofacial syndrome.

    Science.gov (United States)

    Swanson, Edward W; Sullivan, Stephen R; Ridgway, Emily B; Marrinan, Eileen M; Mulliken, John B

    2011-05-01

    Velocardiofacial syndrome is the most common defined disorder associated with palatal insufficiency. The authors' purpose is to evaluate one surgeon's experience with correction of velopharyngeal insufficiency in velocardiofacial syndrome using a tailored pharyngeal flap. The authors reviewed the records of all children with velocardiofacial syndrome and velopharyngeal insufficiency who were managed with a pharyngeal flap between 1983 and 2009. Data collected included age at operation, preoperative videofluoroscopic findings, speech outcomes, complications, and need for a secondary operation. The authors identified 33 patients with velocardiofacial syndrome and velopharyngeal insufficiency who had postoperative speech evaluations. Velopharyngeal insufficiency was diagnosed at a median age of 5 years. Palatal findings were: Veau type I (n = 4), overt submucous (n = 6), or occult submucous (n = 23). Median preoperative lateral pharyngeal wall movement was 22 percent (range, 0 to 90 percent). Successful correction of velopharyngeal insufficiency was achieved in 29 of 33 patients (88 percent). One patient had a medially displaced right internal carotid artery, and evidenced intraoperative bleeding and required a blood transfusion. One patient developed obstructive sleep apnea. A tailored pharyngeal flap is highly effective for correction of velopharyngeal insufficiency in velocardiofacial syndrome with few complications.

  2. Budd-Chiari Syndrome in a Patient with Hepatitis C

    Directory of Open Access Journals (Sweden)

    Joseph Frankl

    2016-01-01

    Full Text Available Chronic Budd-Chiari syndrome can present with cirrhosis and signs and symptoms similar to those of other chronic liver diseases. We present a case of Budd-Chiari syndrome discovered during attempted transjugular intrahepatic portosystemic shunting in a patient with decompensated cirrhosis believed to be secondary to hepatitis C. Although the patient had hepatocellular carcinoma, the Budd-Chiari syndrome was a primary disease due to hepatic venous webs. Angioplasty was performed in this case, which resolved the patient’s symptoms related to portal hypertension. Follow-up venography 5 months after angioplasty demonstrated continued patency of the hepatic veins. A biopsy was obtained in the same setting, which showed centrilobular fibrosis indicating that venous occlusion was indeed the cause of cirrhosis. It is important to consider a second disease when treating a patient with difficult to manage portal hypertension.

  3. Kounis syndrome secondary to amoxicillin use in an asthmatic patient.

    Science.gov (United States)

    Viana-Tejedor, Ana; Espinosa, M Ángeles; Cuesta, J; Núñez, A; Bueno, H; Fernández-Avilés, F

    2011-08-04

    A sixty-four year old man with a past history of hypercholesterolemia, asthma, food allergy, epilepsy and myocardial infarction was admitted to the emergency department because of a generalized erythema, nausea, vomiting, and chest pain after taking an oral dose of amoxicillin. Electrocardiography showed ST segment elevation in anterior leads. After coronary angiography, type 2 variant of Kounis syndrome was diagnosed. We present the first case of oral amoxicillin induced Kounis syndrome in an asthmatic patient with severe anaphylactic shock. The present report also shows that atopic people expressing an amplified mast cell degranulation may have more serious hemodynamic decompensation during hypersensitivity reactions. Case selective mast cell surface membrane stabilization should be considered a potential therapeutic strategy for people with food induced allergy, for atopic patients and for patients who have already experienced a first Kounis syndrome.

  4. [Mitral valve replacement in a patient with Sheehan's syndrome].

    Science.gov (United States)

    Morokuma, H; Nakayama, Y; Minematsu, N

    2008-09-01

    Sheehan' syndrome is caused by pituitary apoplexy occurring during parturition and results in hypopituitarism, adrenal insufficiency and hypothyroidism. A 66-year-old woman with Sheehan's syndrome had received corticosteroids and thyroid hormones for about 18 years. The patient underwent mitral valve replacement for mitral regurgitation. Intraoperatively, just after the initiation of cardiopulmonary bypass, hypotension and severe edema suddenly occurred. Crystalloid fluid was rapidly administered to increase intravascular volumes. Postoperatively the body weight increased by 9.4 kg. The patient was intubated for 64 hours, stayed in the intensive care unit (ICU) for 7 days and was discharged from hospital on the postoperative day 36. Careful perioperative hormone supplementation is necessary for patients with Sheehan's syndrome.

  5. Assessment of Sexual Dysfunction in Patients with Fibromyalgia Syndrome

    Directory of Open Access Journals (Sweden)

    Rahime Nur Ülker

    2013-12-01

    Full Text Available Objectives: The aim of our study is to determine the presence, quality of sexual dysfunction in patients with fibromyalgia syndrome and to compare with normal population. Material and Methods: A total of 55 sexually active women who were admitted to Department of Physical Therapy and Rehabilitation of Antalya Research and Training Hospital and diagnosed with fibromyalgia syndrome according to 1990 and 2010 American College of Rheumatology (ACR criteria. A control group composed of 50 sexually active women who were admitted to our clinic with various musculoskeletal system complaints were also included in the study in order to compare the parameters used for clinical assessment of patients and to determine whether the patients differ from normal population. Patients and controls who met inclusion criteria were applied Female Sexual Function Index (FSFI for assessment of sexual function. This test was developed by Rosen and colleagues in 2000, it is composed of 19 questions and inquires six different dimensions including desire, arousal, lubrication, orgasm, sexual satisfaction and pain. Turkish validation test was done by Turkish Society Of Andrology in 2003, answers are multiplied with a coefficient and each section is evaluated on six scores. Minimum score is 2.4 and maximum is 36 and standardly used for assessment of female sexual dysfunction in Turkey. Results: Subscale and total score of Female Sexual Function Index of Fibromyalgia syndrome patients were found statistically significantly lower than those of control group (p<0.05. Conclusion: Disorders of sexual function or its quality are one of the problems seen in fibromyalgia syndrome patients. It should be noticed that sexual function assessment must be a part of treatment of fibromyalgia syndrome. It is quite difficult to determine the mechanism between sexual dysfunction and fibromyalgia syndrome and new and larger studies are needed to determine this mechanism. (Turkish Journal of

  6. Amyotrophic lateral sclerosis in a patient with Kartagener syndrome.

    Science.gov (United States)

    Yamashita, Satoshi; Migita, Akie; Hayashi, Kenyu; Hirahara, Tomoo; Kimura, En; Maeda, Yasushi; Hirano, Teruyuki; Uchino, Makoto

    2010-08-01

    We present a case of a patient with clinically definite ALS, who had earlier suffered from Kartagener syndrome, which is characterized by the triad comprising chronic sinusitis, bronchiectasis, and situs inversus. Recent linkage and mutational analyses identified several genes that are responsible for Kartagener syndrome. Most of them encode subunits of axonemal dyneins, highlighting the importance of dynein motors to ciliary motility. Recent data indicate that defects in cytoplasmic dynein-mediated retrograde axonal transport are involved in the etiology of ALS. Genes encoding the dynein heavy chain of cytoplasmic and outer arm axonemal dyneins are reported to have similar sequences in their central and 3'-end regions. Although a causal link between ALS and Kartagener syndrome has not yet been definitely established, the precise relationship between disrupted axonemal dynein function in Kartagener syndrome and motor neuron death should be investigated.

  7. Radiographic findings in patients with clinical Tietze syndrom

    Energy Technology Data Exchange (ETDEWEB)

    Jurik, A.G.; Justesen, T.; Graudal, H.

    1987-10-01

    Thirteen patients with similar painful tender swelling in the region of the sternocostal joint (SCJ) are reported. X-ray tomography revealed changes which might explain the swelling in 11 patients. Three patients had anatomical variants of the sternum. One of these and a further two patients had marginal osteophytes at the affected SCJ, as signs of osteoarthrosis. Six patients with psoriasis, pustulosis palmoplantaris, or psoriasis in the family had past or present arthritis of the involved SCJ or the manubriosternal joint. Tomography was found to be a useful confirmatory examination in patients with clinical Tietze syndrome.

  8. Coronary blood flow in patients with cardiac syndrome X.

    Science.gov (United States)

    Sen, Nihat; Tavil, Yusuf; Yazici, Hüseyin Uğur; Abacl, Adnan; Cengel, Atiye

    2007-02-01

    Epicardial coronary arteries are normal in patients with cardiac syndrome X. It is, however, unclear whether there is an abnormality at the level of microvascular circulation. In this study, our aim was to evaluate the epicardial coronary blood flow and myocardial perfusion in patients with cardiac syndrome X. Two hundred and three patients (mean age 53+/-10 years, 85 men) were included in the study. The diagnosis of cardiac syndrome X was made in patients who had a complaint of typical anginal chest pain and had ischemic findings on either myocardial perfusion scintigraphy or a treadmill exercise test, and whose coronary angiograms did not reveal any pathology. Fifty patients (mean age 54+/-11 years, 24 men) who had a complaint of typical anginal chest pain and had a normal myocardial perfusion test and normal coronary arteries were recruited as the control group. Epicardial coronary blood flow was evaluated with the thrombolysis in myocardial infarction frame count method and myocardial perfusion was evaluated with the myocardial blush grade method. A myocardial blush grade of 0.05). We found that the epicardial coronary blood flow, as assessed by thrombolysis in myocardial infarction frame count, and myocardial perfusion, as assessed by myocardial blush grade, were normal in patients with cardiac syndrome X.

  9. Computed tomography in patients with Ehlers-Danlos syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Hagino, Hiroshi; Sugitani, Akitoshi; Eda, Isematsu; Takashima, Sachio; Takeshita, Kenzo

    1985-09-01

    Three patients with Ehlers-Danlos syndrome were reported. Unusual findings on computed tomography were seen in two of the three patients. One case showed peculiar and marked dilatation of the 4th ventricle, supracerebellar cistern and lateral ventricle. The other case presented disproportionate enlargement of the anterior horn of the lateral ventricle. These CT findings in the two patients suggest that developmental abnormalities may constitute a structural defect.

  10. Prevalence of restless legs syndrome in patients with irritable bowel syndrome

    Institute of Scientific and Technical Information of China (English)

    Patrick Basu; N James Shah; Nithya Krishnaswamy; Tommy Pacana

    2011-01-01

    AIM: To determine the prevalence of restless legs syndrome (RLS) in patients with irritable bowel syndrome (IBS).METHODS: Patients with diarrhea-predominant IBS (n = 30), constipation-predominant IBS (n = 30), or mixed-symptom IBS (n = 30) were recruited from the community between March 2008 and February 2009. Rifaximin 200 mg three times daily was administered empirically to alleviate small intestinal bowel overgrowth in all patients. The presence of RLS was assessed via an RLS questionnaire and polysomnography. RESULTS: Twenty-six patients with IBS (29%) were diagnosed with RLS using the RLS questionnaire. Twenty-four of the 26 patients (92%) underwent polysomnog Pacanaraphy, and all had confirmation of RLS. A greater percentage of patients with RLS had diarrhea-predominant IBS (62%) compared with patients with constipation-predominant IBS (4%) or mixed-symptom IBS (33%). CONCLUSION: Restless legs syndrome is prevalent in patients with IBS, especially those with diarrheal symptoms. Assessment of concomitant disorders may improve diagnosis and expand relevant treatment options for patients.

  11. Modern treatment of adult short bowel syndrome patients

    DEFF Research Database (Denmark)

    Efsen, E; Jeppesen, P B

    2011-01-01

    By definition, intestinal failure prevails when oral compensation is no longer feasible and parenteral support is necessary to maintain nutritional equilibrium. In the past, conventional treatment has mainly focused on "making the most of what the short bowel syndrome patient still had" by optimi......By definition, intestinal failure prevails when oral compensation is no longer feasible and parenteral support is necessary to maintain nutritional equilibrium. In the past, conventional treatment has mainly focused on "making the most of what the short bowel syndrome patient still had...

  12. Airway Management in a Patient with Wolf-Hirschhorn Syndrome

    Science.gov (United States)

    Udani, Andrea G.

    2016-01-01

    We present a case of a 3-month-old female with Wolf-Hirschhorn syndrome (WHS) undergoing general anesthesia for laparoscopic gastrostomy tube placement with a focus on airway management. WHS is a rare 4p microdeletion syndrome resulting in multiple congenital abnormalities, including craniofacial deformities. Microcephaly, micrognathia, and glossoptosis are common features in WHS patients and risk factors for a pediatric airway that is potentially difficult to intubate. We discuss anesthesia strategies for airway preparation and management in a WHS patient requiring general anesthesia with endotracheal intubation. PMID:27752382

  13. Airway Management in a Patient with Wolf-Hirschhorn Syndrome

    Directory of Open Access Journals (Sweden)

    John F. Gamble

    2016-01-01

    Full Text Available We present a case of a 3-month-old female with Wolf-Hirschhorn syndrome (WHS undergoing general anesthesia for laparoscopic gastrostomy tube placement with a focus on airway management. WHS is a rare 4p microdeletion syndrome resulting in multiple congenital abnormalities, including craniofacial deformities. Microcephaly, micrognathia, and glossoptosis are common features in WHS patients and risk factors for a pediatric airway that is potentially difficult to intubate. We discuss anesthesia strategies for airway preparation and management in a WHS patient requiring general anesthesia with endotracheal intubation.

  14. Psychiatric disturbances in five patients with MELAS syndrome

    Directory of Open Access Journals (Sweden)

    Magner, Martin

    2014-10-01

    Full Text Available Objectives: Mitochondrial disorders of energetic metabolism (MD represent a heterogeneous group of diseases manifesting at any age with a broad spectrum of clinical symptoms, including psychiatric disorders. Methods: The aim of the study was to characterize psychiatric symptoms and diagnoses in five patients with MELAS syndrome between the ages of 17 and 53 years. Results: Four of MELAS patients them harbored the prevalent mitochondrial DNA (mtDNA mutation 3243A>G, and one patient had the mtDNA mutation 12706T>C. Three patients had positive family histories for MELAS syndrome. In one patient, depression was diagnosed as the first symptom of MELAS syndrome. Depression also preceded a stroke-like episode in one patient. Four patients had disturbed cognitive functions, confusional states occurred in three patients. One patient manifested psychotic (schizophrenia-like symptoms. Conclusion: Mitochondrial disorders deserve consideration as part of the differential diagnosis, especially if there is suspected involvement of other organ groups or positive family history of MD.

  15. Effect of Piper chaba Hunter, Piper sarmentosum Roxb. and Piper interruptum Opiz. on natural killer cell activity and lymphocyte proliferation.

    Science.gov (United States)

    Panthong, Sumalee; Itharat, Arunporn

    2014-08-01

    Immune system is the most important system ofhuman body. Thaifolk doctors have used some medicinal plants as an adaptogenic drug or immunomodulatory agent. Piper chaba Hunter, Piper sarmentosum Roxb. and Piper interruptum Opiz. are used by folk doctors to activate immune response in cancer patients. To investigate the effect on natural killer cell activity and on lymphocyte proliferation activity of water extract of P chaba Hunter P. sarmentosum Roxb. and P interruptum Opiz. MATERIAL ANDMETHOD: Plant materials were extracted by decoction method. All extracts were testedfor an immunomodulatory effect using PBMCs from twelve healthy donors by chromium release assay. Lymphocyte proliferation was also determined by 3H-thymidine uptake assay. The degree of activation was expressed as the stimulation index. The water extract of P chaba Hunter significantly increased lymphocyte proliferation at concentrations ofl ng/ml, 10 ng/ml, 1 μg/ml, 5 μg/ml, 10 μg/ml and 100 μg/ml. P sarmentosum Roxb., and P interruptum Opiz. extracts at those concentrations significantly stimulated lymphocyteproliferation. P sarmentosum Roxb. extractsignificantly increased natural killer (NK) cell activity at a concentration of 100 μg/ml but P chaba Hunter and P interruptum Opiz. extracts did not significantly stimulate natural killer cell activity. P chaba Hunter, P interruptum Opiz. andP sarmentosum Roxb. have an immunomodulatory effect especially for P sarmentosum Roxb. extract which can activate both lymphocyte proliferation and NK cell activity.

  16. Difficult airway in a patient with Marshall-Smith syndrome.

    Science.gov (United States)

    Antila, H; Laitio, T; Aantaa, R; Silvoniemi, P; Pakkanen, A

    1998-01-01

    Marshall-Smith syndrome is a rare clinical disorder characterized by accelerated bone maturation, dysmorphic facial features, airway abnormalities and death in early infancy because of respiratory complications. Although patients with Marshall-Smith syndrome have several features with potential anaesthetic problems, previous reports about anaesthetic management of these patients do not exist. We present a case, in which severe hypoxia developed rapidly after routine anaesthesia induction in an eight-month-old male infant with this syndrome. After several unsuccessful attempts the airway was finally secured by blind oral intubation. After 2 weeks, laryngeal anatomy was examined with fibreoptic laryngoscopy which revealed significant laryngomalacia. Laryngoscopy was performed without problems with ketamine anaesthesia and spontaneous breathing. The possibility of a compromised airway should always be borne in mind when anaesthetizing patients with Marshall-Smith syndrome. Anaesthesia maintaining spontaneous breathing is safest for children with this syndrome. If tracheal intubation or muscle relaxation is required, precautions are needed to maintain a patent airway. Muscle relaxants should possibly be avoided before intubation.

  17. Reduced apolipoprotein glycosylation in patients with the metabolic syndrome.

    Directory of Open Access Journals (Sweden)

    Olga V Savinova

    Full Text Available The purpose of this study was to compare the apolipoprotein composition of the three major lipoprotein classes in patients with metabolic syndrome to healthy controls.Very low density (VLDL, intermediate/low density (IDL/LDL, hereafter LDL, and high density lipoproteins (HDL fractions were isolated from plasma of 56 metabolic syndrome subjects and from 14 age-sex matched healthy volunteers. The apolipoprotein content of fractions was analyzed by one-dimensional (1D gel electrophoresis with confirmation by a combination of mass spectrometry and biochemical assays.Metabolic syndrome patients differed from healthy controls in the following ways: (1 total plasma--apoA1 was lower, whereas apoB, apoC2, apoC3, and apoE were higher; (2 VLDL--apoB, apoC3, and apoE were increased; (3 LDL--apoC3 was increased, (4 HDL--associated constitutive serum amyloid A protein (SAA4 was reduced (p<0.05 vs. controls for all. In patients with metabolic syndrome, the most extensively glycosylated (di-sialylated isoform of apoC3 was reduced in VLDL, LDL, and HDL fractions by 17%, 30%, and 25%, respectively (p<0.01 vs. controls for all. Similarly, the glycosylated isoform of apoE was reduced in VLDL, LDL, and HDL fractions by 15%, 26%, and 37% (p<0.01 vs. controls for all. Finally, glycosylated isoform of SAA4 in HDL fraction was 42% lower in patients with metabolic syndrome compared with controls (p<0.001.Patients with metabolic syndrome displayed several changes in plasma apolipoprotein composition consistent with hypertriglyceridemia and low HDL cholesterol levels. Reduced glycosylation of apoC3, apoE and SAA4 are novel findings, the pathophysiological consequences of which remain to be determined.

  18. Pharmacodynamic effects of rosiglitazone in nondiabetic patients with metabolic syndrome.

    Science.gov (United States)

    Aquilante, Christina L; Kosmiski, Lisa A; Zineh, Issam; Rome, Lucille Capo; Knutsen, Shannon D

    2010-03-01

    To determine the effects of the thiazolidinedione rosiglitazone on the adipocyte-derived cytokines adiponectin (an antiinflammatory and insulin-sensitizing cytokine; low levels have been associated with metabolic syndrome) and resistin (an inflammation mediator; high levels have been associated with metabolic syndrome) in nondiabetic patients with metabolic syndrome, and to characterize the effects of rosiglitazone on other components of the metabolic syndrome phenotype in this population. Prospective, randomized, double-blind, placebo-controlled study. Outpatient general clinical research center. Thirty-two nondiabetic men and women with a clinical diagnosis of metabolic syndrome (as defined in the American Heart Association-National Heart, Lung, and Blood Institute scientific statement). Patients were randomly assigned to receive either oral rosiglitazone 4 mg/day or matching placebo for 12 weeks. The primary end point was change in serum adiponectin concentrations from baseline to week 12. Secondary end points were changes in serum resistin concentrations, insulin resistance, fasting glucose level, fasting insulin level, body weight, lipid levels, systolic and diastolic blood pressure, and waist circumference from baseline to week 12. Also, changes from baseline in adiponectin and resistin concentrations and insulin resistance were assessed over time at weeks 2, 4, 8, and 12. Rosiglitazone was associated with a significant increase in serum adiponectin concentration after 12 weeks compared with placebo (45.8% vs 2.6%, p=0.002). The increase in adiponectin concentration occurred quickly, with a significant difference observed after 2 weeks of therapy. Compared with placebo, rosiglitazone was not associated with significant 12-week changes in serum resistin concentrations, insulin resistance, fasting glucose level, fasting insulin level, body weight, lipid levels, systolic or diastolic blood pressure, or waist circumference. Rosiglitazone had beneficial effects on

  19. Decreased sweating in seven patients with Laron syndrome

    DEFF Research Database (Denmark)

    Main, K M; Price, D A; Savage, M O;

    1993-01-01

    Previous studies have shown that sweat secretion was reduced in patients with GH deficiency and increased during GH treatment, indicating an influence of GH on sweat gland function. Thus, patients with GH deficiency have impaired thermoregulation. We report on sweat secretion rates (SSRs) in seven...... patients with Laron syndrome, measured by pilocarpine iontophoresis. The patients had significantly lower SSRs than healthy children matched for sex and pubertal stage (P sweat electrolyte concentrations (P ...). These observations further supported the hypothesis that sweat gland function in humans is under the influence of the GH-insulin-like growth factor-I axis. It remains to be seen whether the decrease in SSR also leads to altered thermoregulation in patients with Laron syndrome....

  20. CT scan findings of patients with Rett syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Suzuki, Hisaharu; Takanashi, Aiko; Hirayama, Yoshito; Sakuragawa, Norio; Arima, Masataka; Tateno, Akihiko; Koide, Hiroyoshi.

    1989-05-01

    CT findings and clinical features were analyzed in 16 female patients with Rett syndrome, whose ages were between 4 and 20. Fifteen patients had microcrania. Twelve patients were able to stand and run; however, the remaining 4 patients had the only ability to sit. CT revealed an atrophy of the ponse and various degrees of dilatation in the Silvian fissure, frontal sulcus, and space between the cranium and the frontal polar lobe. An atrophy in the frontal lobe, cerebral cortex surrounding the Silvian fissure, and white matter directly below the cortex seemed to have an important role in the occurrence of this syndrome. There was, however, no definitive correlation between the degree of atrophy and both the patient's age and motor function. Serial CT scannings with clinical process are required. (Namekawa, K).

  1. Molecular characterization of Italian nevoid basal cell carcinoma syndrome patients.

    Science.gov (United States)

    Pastorino, L; Cusano, R; Nasti, S; Faravelli, F; Forzano, F; Baldo, C; Barile, M; Gliori, S; Muggianu, M; Ghigliotti, G; Lacaita, M G; Lo Muzio, L; Bianchi-Scarra, G

    2005-03-01

    Mutations in the PTCH gene, the human homolog of the Drosophila patched gene, have been found to lead to the autosomal dominant disorder termed Nevoid Basal Cell Carcinoma Syndrome (NBCCS, also called Gorlin Syndrome). Patients display an array of developmental anomalies and are prone to develop a variety of tumors, with multiple Basal Cell Carcinomas occurring frequently. We provide here the results of molecular testing of a set of Italian Nevoid Basal Cell Carcinoma Syndrome patients. Twelve familial patients belonging to 7 kindreds and 5 unaffected family members, 6 non-familial patients and an additional set of 7 patients with multiple Basal Cell Carcinoma but no other criteria for the disease were examined for mutations in the PTCH gene. All of the Nevoid Basal Cell Carcinoma Syndrome patients were found to carry variants of the PTCH gene. We detected nine novel mutations (1 of which occurring twice): 1 missense mutation (c.1436T>G [p.L479R]), 1 nonsense mutation (c.1138G>T [p.E380X]), 6 frameshift mutations (c.323_324ins2, c.2011_2012dup, c.2535_2536dup, c.2577_2583del, c.3000_3005del, c.3050_3051del), 1 novel splicing variant (c.6552A>T) and 3 mutations that have been previously reported (c.3168+5G>A, c.1526G>T [p.G509V], and c.3499G>A [p.G1167R]). None of the patients with multiple Basal Cell Carcinoma but no other criteria for the syndrome, carried germline coding region mutations.

  2. 76 FR 46149 - Financial Assistance: Wildlife Restoration, Sport Fish Restoration, Hunter Education and Safety

    Science.gov (United States)

    2011-08-01

    ... Assistance: Wildlife Restoration, Sport Fish Restoration, Hunter Education and Safety; Final Rule #0;#0... Restoration, Hunter Education and Safety AGENCY: Fish and Wildlife Service, Interior. ACTION: Final rule... Restoration, Sport Fish Restoration, and Hunter Education and Safety (Enhanced Hunter Education and...

  3. Hypertriglyceridemic acute pancreatitis in a patient with Sheehan's syndrome

    Institute of Scientific and Technical Information of China (English)

    Wei-Zhong Zhang; Jue-Xing Xie; Jie Shen; Feng Lin

    2006-01-01

    BACKGROUND:There is no report on case of severe acute hyperlipidemic pancreatitis after treatment of Sheehan's syndrome. METHODS: A 32-year-old female patient was diagnosed as having acute hyperlipidemic pancreatitis after treatment of Sheehan's syndrome, and treated with diet and lipid-lowering agents in early stage. RESULTS: Abdominal pain and fever of the patient resolved within a few days. She was subjected to diet and oral lipid-lowering therapy on the 4th day after admission. The disease did not recur during the follow-up for more than one year. CONCLUSIONS: Estrogen replacement therapy should be prescribed for Sheehan's syndrome. The serum level of triglyceride should be monitored and treatment should be given to prevent severe acute pancreatitis. Lipid-lowering therapy in early stage is the key step towards a complete recovery.

  4. Examine your orofacial cleft patients for Gorlin-Goltz syndrome.

    Science.gov (United States)

    Lambrecht, J T; Kreusch, T

    1997-07-01

    The Gorlin-Goltz syndrome is characterized by four primary symptoms: multiple nevoid basal cell epitheliomas that usually undergo malignant transformation; jaw keratocysts that show constant growth; skeletal anomalies; and intracranial calcifications. A myriad of additional findings may also be noted. Among the most frequent are: palmar and plantar pits, a characteristic flattened facies and broad nasal root, frontal and parietal bossing, mandibular prognathia, hypertelorism, strabismus, dystrophia of the canthi, and clefts of the lip, alveolus, and/or palate. In this study, we review the literature and our 25 cases of Gorlin-Goltz syndrome patients, questioning their incidence of cleft formations (8.5%) as compared to the general population (0.1%). It is our contention that all patients who present with an orofacial cleft warrant deeper investigation as to the presence of additional signs indicative of Gorlin-Goltz syndrome. The nevi turn malignant with time, and thus, early diagnosis, follow-up, and treatment are imperative.

  5. Detection of hepatopulmonary syndrome in patient with liver cirrhosis

    Directory of Open Access Journals (Sweden)

    Davorin Dajčman

    2006-12-01

    Full Text Available Background: Hepatopulmonary syndrome (HPS is a pulmonary vascular disorder, complicating hepatic disease, and is responsible for an increased morbidity and mortality among patients awaiting liver transplantation. Nowadays, it is recognized as an independent risk factor for death in this patient population. The severity of hypoxemia and the advanced stage of the liver dysfunction are determinants for the prognosis. Therefore, the possibility to be successful, thus improving survival, consists of addressing HPS at an earlier stage, giving more attention to moderate evidences of this pathology instead of the severe ones.Patients and methods: Between the year 2000 and first half of the year 2005 we observed 115 patients with liver cirrhosis B and C expressed as class of Child-Pough classification of different etiology and portal hypertension (63 men and 52 women. All patients were included on the basis of inclusion and eyclusion criterion.Results: Clinically we suspected on hepatopulmonary syndrome in 18 patients. With 100 % oxygen inhalation test we confirmed the hepatopulmonary syndrome in 9 patients (57.7 %, 6 men and 3 women, on the other hand contrast echosonography was positive in 8 patients (51.3 %, 5 men and 3 women. All these patients had liver cirrhosis grade C, expressed as class of Child-Pough.Conclusions: On the basis of scientific evidence, we suggest a sample for detecting HPS among patients with liver cirrhosis, founded on the integration of two main factors: the severity of hepatic disease, expressed as class of Child-Pough, and the severity of the hypoxemia. The key role in diagnosis of hepatopulmonary syndrome are anamnesis of platipnea and arterial blood oxygen analysis as a less invasive diagnostic methods. However final diagnosis is achieved with 100 % oxygen inhalation test and contrast echosonography.

  6. Prognosis of patients treated for Cushing syndrome.

    Science.gov (United States)

    Aulinas, Anna; Valassi, Elena; Webb, Susan M

    2014-01-01

    Cushing syndrome (CS), due to an ACTH-secreting pituitary adenoma, adrenal tumors, or ectopic ACTH secretion, causes hypercortisolism. CS is associated with major morbidity, especially metabolic and cardiovascular complications, osteoporosis, psychiatric changes, and cognitive impairment. Despite biochemical "cure" of hypercortisolism and clinical improvement after effective treatment, these complications are only partially reversible. Exacerbation of prior autoimmune diseases is also seen. All of these lead to quality of life impairment and increased mortality. This review addresses the main comorbidities and long-term consequences of CS despite clinical and biochemical "cure". Copyright © 2013 SEEN. Published by Elsevier Espana. All rights reserved.

  7. Clinical features of adult patients with Eisenmenger syndrome associated with different types of congenital heart disease

    Institute of Scientific and Technical Information of China (English)

    陈果

    2013-01-01

    Objective To explore the clinical features and hemodynamics of adult patients with Eisenmenger syndrome in different types of congenital heart diseases (CHD) .Methods Patients with Eisenmenger syndrome with different types of CHD diagnosed by right heart

  8. Alcohol withdrawal syndrome in admitted trauma patients.

    Science.gov (United States)

    Jawa, Randeep S; Stothert, Joseph C; Shostrom, Valerie K; Yetter, Diane L; Templin, Heather R; Cemaj, Samuel K; Lander, Lina; Forse, Armour R; Young, David H

    2014-11-01

    As alcohol use is highly prevalent in trauma patients, we hypothesized that a significant proportion of hospitalized trauma patients would demonstrate alcohol withdrawal (AW). The trauma registries at a joint trauma center system from 1999 to 2008 were evaluated for patients aged at least 16 years. Of 19,369 trauma admissions, 159 patients had AW. Blood alcohol concentration (BAC) testing was performed in 31.5% of the patients. BAC was significantly higher in AW patients versus other traumas (205.7 ± 130.1 vs 102.9 ± 121.7 mg/dL). BAC was 0 in 14.4% of AW patients. As compared with other trauma patients, patients with AW had a significantly greater age (50.2 vs 42.1 years), hospital length of stay (10 vs 3 days), intensive care unit length of stay (2 vs 0 days), need for mechanical ventilation (34% vs 12.7%), and pneumonia (12% vs 2.3%). AW patients were less frequently discharged to home (59.8% vs 69.9%). Mortality was not different. AW was diagnosed in few patients. Of note, it occurred in patients with an initial BAC of 0. AW is associated with adverse outcomes. Published by Elsevier Inc.

  9. Restless legs syndrome in migraine patients : prevalence and severity

    NARCIS (Netherlands)

    van Oosterhout, W P J; van Someren, E J W; Louter, M A; Schoonman, G G; Lammers, G J; Rijsman, R M; Ferrari, M D; Terwindt, G M

    2016-01-01

    BACKGROUND AND PURPOSE: Our aim was to study not only the prevalence but more importantly the severity and the correlation between sleep quality and restless legs syndrome (RLS) in a large population of well-defined migraine patients as poor sleep presumably triggers migraine attacks. METHODS: In a

  10. Predictors of Death in Contemporary Adult Patients with Eisenmenger Syndrome

    DEFF Research Database (Denmark)

    Kempny, Aleksander; Hjortshøj, Cristel S; Gu, Hong

    2017-01-01

    BACKGROUND: -Eisenmenger syndrome (ES) is associated with substantial morbidity and mortality. There is no consensus, however, on mortality risk stratification. We aimed to investigate survival and predictors of death in a large, contemporary cohort of ES patients. METHODS: -We identified in a mu...

  11. Abnormal mucociliary transport study in a patient with Kartagener syndrome.

    Science.gov (United States)

    Taylor, R E Russell

    2006-04-01

    Mucociliary transport can be assessed by monitoring the clearance rate of inhaled, dried, and crushed technetium-99m labeled sulfur colloid. A case is described of a patient who had a history of recurrent sinusitis, purulent sputum production, and infertility. It was thought he might have Kartagener syndrome, and his mucociliary clearance was shown to be abnormal.

  12. Restless legs syndrome in migraine patients : prevalence and severity

    NARCIS (Netherlands)

    van Oosterhout, W P J; van Someren, E J W; Louter, M A; Schoonman, G G; Lammers, G J; Rijsman, R M; Ferrari, M D; Terwindt, G M

    2016-01-01

    BACKGROUND AND PURPOSE: Our aim was to study not only the prevalence but more importantly the severity and the correlation between sleep quality and restless legs syndrome (RLS) in a large population of well-defined migraine patients as poor sleep presumably triggers migraine attacks. METHODS: In a

  13. Typical neuroleptic malignant syndrome presented in patient on maintenance quetiapine

    Directory of Open Access Journals (Sweden)

    Chintan Madhusudan Raval

    2014-01-01

    Full Text Available Neuroleptic malignant syndrome is an acute, life-threatening medical complication caused by antipsychotics. It is commonly seen with typical antipsychotics and very rare with atypicals. Cases have been reported with quetiapine also, but this case is of special interest because it occurred in patient who was stable on maintenance quetiapine 200 mg/day for last 5 years.

  14. Occupational exposure in patients with the antisynthetase syndrome.

    NARCIS (Netherlands)

    Labirua-Iturburu, A.; Selva-O'Callaghan, A.; Zock, J.P.; Orriols, R.; Martinez-Gómez, X.; Vilardell-Tarrés, M.

    2014-01-01

    Interstitial lung disease (ILD) is common in patients with myositis and is related with the presence of antisynthetase autoantibodies (aSA). Together with other manifestations, the resulting condition is known as the antisynthetase syndrome (ASS). Contact with certain environmental and occupational

  15. Patients with Pendred syndrome: is cochlear implantation beneficial?

    NARCIS (Netherlands)

    Nierop, J.W.I. van; Huinck, W.J.; Pennings, R.J.E.; Admiraal, R.J.C.; Mylanus, E.A.M.; Kunst, H.P.M.

    2016-01-01

    OBJECTIVE: To evaluate the benefit of cochlear implantation in patients with Pendred syndrome. DESIGN: Retrospective study. SETTING: Tertiary centre. PARTICIPANTS AND MAIN OUTCOME MEASURES: Speech perception was measured using a phonetically balanced word list at a sound pressure level of 65 dB. Pos

  16. Outcome of tonsillectomy in selected patients with PFAPA syndrome.

    Science.gov (United States)

    Pignataro, Lorenzo; Torretta, Sara; Pietrogrande, Maria Cristina; Dellepiane, Rosa Maria; Pavesi, Paola; Bossi, Anna; Drago, Lorenzo; Capaccio, Pasquale

    2009-06-01

    To assess the practicability of integrated medical and surgical management and the effectiveness of tonsillectomy in children with PFAPA syndrome (periodic fever, aphthous stomatitis, pharyngitis, and cervical lymphadenopathy). A prospective study. Secondary pediatric and otolaryngological university center. Of 30 patients evaluated for periodic fever, 18 children with PFAPA syndrome were included in the study. Patients underwent long-term pediatric and otolaryngological assessments, and their parents were asked to keep monthly diaries with reports of any subsequent episodes, symptom, and related sign. Patients received traditional medical therapies, and 9 patients underwent tonsillectomy for the lack of lasting recovery. The association between postoperative outcomes and age at tonsillectomy and the differences in the patients' condition before and after tonsillectomy were statistically tested. In addition, the removed tonsillar tissue was analyzed molecularly to evaluate concomitant infections. All of the surgical patients reported a symptomatic improvement, with complete clinical recovery in 5 cases (56%) and significant reduction in number (P = .005) and duration (P = .03) of recurrences in the remaining 4 (44%). Results of molecular analysis of tonsillar specimens were negative for bacteria in all but 1 patient. Otolaryngologists should be trained to recognize PFAPA syndrome, for which management consists of a regular and prolonged second-level pediatric and otolaryngological follow-up, with surgery only after the failure of traditional medical therapy.

  17. [Psychometric results in patients with Klinefelter syndrome].

    Science.gov (United States)

    Gutezeit, G; Münke, M; Tolksdorf, M

    1982-08-01

    In psychodiagnostic investigation 12 Klinefelter-patients and 12 psychosomatic patients matched for age and socioeconomic status were compared. Our results are generally in agreement with the observations in recent research concerning some personality traits. 1. The intelligence of Klinefelter-patients rather meets the mark of practical than educational standards. Therefore these patients quite often fail at school, which otherwise is adequate to the level of their general-IQ. 2. Klinefelter-patients generally score low in the masculinity-scale. Equally remarkable is the tendency towards introversion, shyness, inhibition and an unstable emotionality.

  18. Channel centerline for Hunter Creek, Oregon in 1940

    Data.gov (United States)

    U.S. Geological Survey, Department of the Interior — Hunter Creek is an unregulated system that drains 115 square kilometers of southwestern Oregon before flowing into the Pacific Ocean south of the town of Gold...

  19. The Hunter Drain Stillwater National Wildlife Refuge Fallon, Nevada

    Data.gov (United States)

    US Fish and Wildlife Service, Department of the Interior — This document outlines water quality concerns related to the operation of the Hunter Drain located in the vicinity of the Stillwater National Wildlife Refuge. This...

  20. Channel centerline for Hunter Creek, Oregon in 2009

    Data.gov (United States)

    U.S. Geological Survey, Department of the Interior — Hunter Creek is an unregulated system that drains 115 square kilometers of southwestern Oregon before flowing into the Pacific Ocean south of the town of Gold Beach,...

  1. Channel centerline for Hunter Creek, Oregon in 2005

    Data.gov (United States)

    U.S. Geological Survey, Department of the Interior — Hunter Creek is an unregulated system that drains 115 square kilometers of southwestern Oregon before flowing into the Pacific Ocean south of the town of Gold Beach,...

  2. perceptions and adaptations of beekeepers and honey hunters to ...

    African Journals Online (AJOL)

    Prof. Adipala Ekwamu

    honey sector (i.e. honey hunters) to climate change are, however, not adequately explored. The objective ... resort, beekeepers that are severely affected by climate change had no other choice than abandoned beekeeping for .... Trees, shrub.

  3. Morality and Gender: A Commentary on Pratt, Golding, and Hunter.

    Science.gov (United States)

    Smetana, Judith G.

    1984-01-01

    Discusses problems in Pratt, Golding, and Hunter's investigation (in this issue) of two propositions central to Gilligan's (1982) thesis on the mismeasurement of women's moral orientation and development. Describes research addressing the problems and indicates directions for further research. (RH)

  4. Channel centerline for Hunter Creek, Oregon in 1965

    Data.gov (United States)

    U.S. Geological Survey, Department of the Interior — Hunter Creek is an unregulated system that drains 115 square kilometers of southwestern Oregon before flowing into the Pacific Ocean south of the town of Gold Beach,...

  5. Aerial photo mosaic of Hunter Creek, Oregon in 1940

    Data.gov (United States)

    U.S. Geological Survey, Department of the Interior — Hunter Creek is an unregulated system that drains 115 square kilometers of southwestern Oregon before flowing into the Pacific Ocean south of the town of Gold Beach,...

  6. Aerial photo mosaic of Hunter Creek, Oregon in 1965

    Data.gov (United States)

    U.S. Geological Survey, Department of the Interior — Hunter Creek is an unregulated system that drains 115 square kilometers of southwestern Oregon before flowing into the Pacific Ocean south of the town of Gold Beach,...

  7. The management of patients with the short bowel syndrome

    Institute of Scientific and Technical Information of China (English)

    Cameron F. E. Platell; Jane Coster; Rosalie D. McCauley; John C. Hall

    2002-01-01

    The surgeon is invariably the primary specialist involvedin managing patients with short bowel syndrome. Becauseof this they will play an important role in co-ordinating themanagement of these patients. The principal aims at theinitial surgery are to preserve life, then to preserve gutlength, and maintain its continuity. In the immediatepostoperative period, there needs to be a balancebetween keeping the patient alive through the use of TPNand antisecretory agents and promoting gut adaptationwith the use of oral nutrition. lf the gut fails to adaptduring this period, then the patient may require therapywith more specific agents to promote gut adaptation suchas growth factors and glutamine. lf following this, thepatient still has a short gut syndrome, then the principaloptions remain either long term TPN, or intestinaltransplantation which remains a difficult and challengingprocedure with a high mortality and morbidity due torejection.

  8. [A case of tularemia in a Danish hunter].

    Science.gov (United States)

    Edfors, Robert; Smith, Birgitte; Lillebaek, Troels

    2010-02-01

    "Rabbit fever" (Francisella Tularensis) is a rare infection in Denmark. It was first described in Denmark in 1987. It is most likely to affect people who come into close contact with infected animals or ticks, such as hunters, butchers and veterinarians. The diagnosis should be suspected in such persons presenting with fever, headache, lethargy, lymphadenitis and bite wounds. We present a Danish case describing the diagnosis and treatment of a hunter infected with T. tularensis.

  9. Micturitional disturbance in patients with Guillain-Barré syndrome

    Science.gov (United States)

    Sakakibara, R.; Hattori, T.; Kuwabara, S.; Yamanishi, T.; Yasuda, K.

    1997-01-01

    OBJECTIVES—To examine the frequency and pathophysiology of micturitional disturbance in patients with Guillain-Barré syndrome.
METHODS—Micturitional symptoms were noted and neurological examinations made repeatedly during admission to hospital of patients with clinical and neurophysiologically definite Guillain-Barré syndrome. Urodynamic studies consisted of uroflowmetry, measurement of residual urine, urethral pressure profilometry, medium fill water cystometry, and external sphincter EMG.
RESULTS—Seven of 28 (25%) patients with Guillain-Barré syndrome showed micturitional disturbance. The symptoms included voiding difficulty in six, urinary retention in three, nocturnal urinary frequency in three, and urge incontinence in two. These micturitional symptoms appeared after weakness occurred, and improved gradually along with the neurological signs. All three patients who showed retention became able to urinate. Urodynamic studies were made on four symptomatic patients two of whom underwent repeated study. Disturbed bladder sensation was noted in one patient, bladder areflexia in one, and absence of the bulbocavernosus reflex in one. Cystometry showed decreased bladder volume in two and bladder overactivity in two, one of whom had urge urinary incontinence and the other urinary retention.
CONCLUSIONS—A quarter of the patients with Guillain-Barré syndrome tend to have micturitional disturbance. The patients studied had evacuation and storage disorders, as well as bladder areflexia and disturbed bladder sensation indicative of peripheral types of parasympathetic and somatic nerve dysfunction. Decreased bladder volume with bladder overactivity but no evidence of CNS involvement was also found, evidence that bladder overactivity also occurs in peripheral nerve lesions with probable pelvic nerve irritation.

 PMID:9408108

  10. Detection of hepatopulmonary syndrome in patient with liver cirrhosis

    OpenAIRE

    Davorin Dajčman

    2006-01-01

    Background: Hepatopulmonary syndrome (HPS) is a pulmonary vascular disorder, complicating hepatic disease, and is responsible for an increased morbidity and mortality among patients awaiting liver transplantation. Nowadays, it is recognized as an independent risk factor for death in this patient population. The severity of hypoxemia and the advanced stage of the liver dysfunction are determinants for the prognosis. Therefore, the possibility to be successful, thus improving survival, consists...

  11. Behçet's syndrome patients exhibit specific microbiome signature.

    Science.gov (United States)

    Consolandi, Clarissa; Turroni, Silvia; Emmi, Giacomo; Severgnini, Marco; Fiori, Jessica; Peano, Clelia; Biagi, Elena; Grassi, Alessia; Rampelli, Simone; Silvestri, Elena; Centanni, Manuela; Cianchi, Fabio; Gotti, Roberto; Emmi, Lorenzo; Brigidi, Patrizia; Bizzaro, Nicola; De Bellis, Gianluca; Prisco, Domenico; Candela, Marco; D'Elios, Mario M

    2015-04-01

    Behçet syndrome is a systemic inflammatory condition characterized by muco-cutaneous and ocular manifestations, with central nervous system, vascular and/or gastro-intestinal involvement. The association of microbiota with Behçet syndrome has not been shown yet. Our work was aimed to compare the gut microbiota structure and the profiles of short-chain fatty acids production in Behçet syndrome patients and healthy control relatives. Here, we compared the fecal microbiota of 22 patients with Behçet syndrome and that of 16 healthy co-habiting controls, sharing the same diet and lifestyle by pyrosequencing of the V3-V4 hypervariable regions of the 16 rDNA gene and biochemical analyses. Our analyses showed significant differences in gut microbiota between Behçet patients and healthy cohabitants. In particular we found that Behçet's patients were significantly depleted in the genera Roseburia and Subdoligranulum. Roseburia showed a relative abundance value of 10.45±6.01% in healthy relatives and 4.97±5.09% in Behçet's patients, and Subdoligranulum, which reached a relative abundance of 3.28±2.20% in healthy controls, was only at 1.93±1.75% of abundance in Behçet's patients. Here we report, for the first time, that a peculiar dysbiosis of the gut microbiota is present in patients with Behçet syndrome and this corresponds to specific changes in microbiome profile. A significant decrease of butyrate production (P=0.0033) in Behçet's patients was demonstrated. Butyrate is able to promote differentiation of T-regulatory cells, and consequently the results obtained prompt us to speculate that a defect of butyrate production might lead to both reduced T-reg responses and activation of immuno-pathological T-effector responses. Altogether, our results indicate that both a peculiar dysbiosis of the gut microbiota and a significant decrease of butyrate production are present in patients with Behçet syndrome. Published by Elsevier B.V.

  12. Metabolic syndrome and risk of restenosis in patients undergoing percutaneous coronary intervention

    NARCIS (Netherlands)

    Wouterjukema, J; Monraats, PS; Zwinderman, AH; De Maat, MPM; Kastelein, JJP; Doevendans, PAF; De Winter, RJ; Tio, RA; Frants, RR; Van der Laarse, A; Van der Wall, EE; Jukema, JW

    OBJECTIVE - Patients with metabolic syndrome have increased risk of cardiovascular events. The number of patients With Metabolic syndrome is rapidly increasing, and these patients Often need revascularization. However, only limited data are available on the effect of metabolic syndrome on restenosis

  13. Hunter perceptions and acceptance of alternative deer management regulations

    Science.gov (United States)

    Cornicelli, L.; Fulton, D.C.; Grund, M.D.; Fieberg, J.

    2011-01-01

    Wildlife managers are often confronted with a policy paradox where a majority of the public supports an outcome, but there is no agreement on specific management strategies to achieve this outcome. Previous research has also reported a link between regulatory acceptance, hunter satisfaction, and hunter participation rates. Thus, human dimensions research aimed at understanding hunter motivations and behavior is needed for effective management. In 2005, we surveyed Minnesota (USA) deer hunters (n = 6,000; 59% response) to evaluate attitudes regarding alternative deer (Odocoileus virginianus) harvest regulations. We also conducted a series of forced choice experiments in which respondents were asked to select an option from a list of representative regulations that might be adopted to achieve a particular deer management goal. Specifically, we modeled 5 deer population scenarios ranging from low populations with high buck-harvest rates to populations 50% over goal density. Our results indicate that hunters preferred different regulations depending on the population scenario, but generally preferred antler-point restrictions and disliked limiting buck licenses through a lottery. We also found consistency among scenarios, in that a small percentage of respondents indicated they would not hunt if regulations were changed. The results from this study should help wildlife managers design deer harvest regulations that are both acceptable to hunters and achieve management objectives. ?? 2011 The Wildlife Society.

  14. 'Impact hunters' catalyse cooperative hunting in two wild chimpanzee communities.

    Science.gov (United States)

    Gilby, Ian C; Machanda, Zarin P; Mjungu, Deus C; Rosen, Jeremiah; Muller, Martin N; Pusey, Anne E; Wrangham, Richard W

    2015-12-05

    Even when hunting in groups is mutually beneficial, it is unclear how communal hunts are initiated. If it is costly to be the only hunter, individuals should be reluctant to hunt unless others already are. We used 70 years of data from three communities to examine how male chimpanzees 'solve' this apparent collective action problem. The 'impact hunter' hypothesis proposes that group hunts are sometimes catalysed by certain individuals that hunt more readily than others. In two communities (Kasekela and Kanyawara), we identified a total of five males that exhibited high hunt participation rates for their age, and whose presence at an encounter with red colobus monkeys increased group hunting probability. Critically, these impact hunters were observed to hunt first more often than expected by chance. We argue that by hunting first, these males dilute prey defences and create opportunities for previously reluctant participants. This by-product mutualism can explain variation in group hunting rates within and between social groups. Hunting rates declined after the death of impact hunter FG in Kasekela and after impact hunter MS stopped hunting frequently in Kanyawara. There were no impact hunters in the third, smaller community (Mitumba), where, unlike the others, hunting probability increased with the number of females present at an encounter with prey.

  15. Cerebral infarction in patient with minimal change nephrotic syndrome.

    Science.gov (United States)

    Babu, A; Boddana, P; Robson, S; Ludeman, L

    2013-01-01

    We report a case of 68-year-old Caucasian man who presented with cerebral infarcts secondary to arterial thrombosis associated with nephrotic syndrome. His initial presentation included edema of legs, left hemiparesis, and right-sided cerebellar signs. Investigations with computed tomography and magnetic resonance imaging of brain showed multiple cerebral infarcts in middle cerebral and posterior cerebral artery territory. Blood and urine investigations also showed impaired renal function, hypercholesterolemia, hypoalbuminaemia, and nephrotic range proteinuria. Renal biopsy showed minimal change disease. Cerebral infarcts were treated with antiplatelet agents and nephrotic syndrome was treated with high dose steroids. Patient responded well to the treatment and is all well till date.

  16. Improvements to the Hunter Dose tracking system

    Energy Technology Data Exchange (ETDEWEB)

    Whiteside, T. S. [Savannah River Site (SRS), Aiken, SC (United States). Savannah River National Lab. (SRNL); Aucott, T. J. [Savannah River Site (SRS), Aiken, SC (United States). Savannah River National Lab. (SRNL); Brand, A. D. [Savannah River Site (SRS), Aiken, SC (United States). Savannah River National Lab. (SRNL); Diprete, D. P. [Savannah River Site (SRS), Aiken, SC (United States). Savannah River National Lab. (SRNL)

    2017-07-01

    Since 1965, the Savannah River Site (SRS) has conducted deer hunts which are open to the general public. SRS performs field monitoring for cesium-137 (Cs-137) of each harvested animal to determine whether the animal may be released to the hunter. A new field system for measuring Cs-137 in the harvested animals has been developed. The system incorporates numerous enhancements compared to the original system. The original system was composed of two Ludlum Measurements scalar-driven 2 inch x 2 inch sodium iodide counters, while the new system is based on a single Ametek Ortec Digibase-driven 2 inch x 4 inch x 16 inch sodium iodide gamma spectrometer. The new system includes a series of easy-to-assemble stainless steel encapsulated lead shields. The combination of the larger detector size and lead shielding improved the detection limit of the new system by a factor of approximately three compared to the original system. This lower detection limit allows for a larger number of measurements to be directly compared to the laboratory results, in cases where animal portions have been sampled. The results from developing and using this system are presented as well as recommendations on improvements to the overall field monitoring of the SRS hunts.

  17. Ultrastructural pathology of aortic dissections in patients with Marfan syndrome: Comparison with dissections in patients without Marfan syndrome

    NARCIS (Netherlands)

    K.P. Dingemans; P. Teeling; A.C. van der Wal; A.E. Becker

    2006-01-01

    Despite the discovery in 1990 that mutations in the fibrillin-1 gene cause the Marfan syndrome, the pathogenesis of the life-threatening dissections associated with this disease is far from elucidated. Both the massive number of known fibrillin-1 mutations that result in a heterogeneous patient popu

  18. Prone position in patients with acute respiratory distress syndrome

    Science.gov (United States)

    Setten, Mariano; Plotnikow, Gustavo Adrián; Accoce, Matías

    2016-01-01

    Acute respiratory distress syndrome occupies a great deal of attention in intensive care units. Despite ample knowledge of the physiopathology of this syndrome, the focus in intensive care units consists mostly of life-supporting treatment and avoidance of the side effects of invasive treatments. Although great advances in mechanical ventilation have occurred in the past 20 years, with a significant impact on mortality, the incidence continues to be high. Patients with acute respiratory distress syndrome, especially the most severe cases, often present with refractory hypoxemia due to shunt, which can require additional treatments beyond mechanical ventilation, among which is mechanical ventilation in the prone position. This method, first recommended to improve oxygenation in 1974, can be easily implemented in any intensive care unit with trained personnel. Prone position has extremely robust bibliographic support. Various randomized clinical studies have demonstrated the effect of prone decubitus on the oxygenation of patients with acute respiratory distress syndrome measured in terms of the PaO2/FiO2 ratio, including its effects on increasing patient survival. The members of the Respiratory Therapists Committee of the Sociedad Argentina de Terapia Intensiva performed a narrative review with the objective of discovering the available evidence related to the implementation of prone position, changes produced in the respiratory system due to the application of this maneuver, and its impact on mortality. Finally, guidelines are suggested for decision-making. PMID:27925054

  19. Molecular and Clinical Findings in Patients With Knobloch Syndrome.

    Science.gov (United States)

    Hull, Sarah; Arno, Gavin; Ku, Cristy A; Ge, Zhongqi; Waseem, Naushin; Chandra, Aman; Webster, Andrew R; Robson, Anthony G; Michaelides, Michel; Weleber, Richard G; Davagnanam, Indran; Chen, Rui; Holder, Graham E; Pennesi, Mark E; Moore, Anthony T

    2016-07-01

    Knobloch syndrome is a rare, recessively inherited disorder classically characterized by high myopia, retinal detachment, and occipital encephalocele, but it is now known to have an increasingly variable phenotype. There is a lack of reported electrophysiologic data, and some key clinical features have yet to be described. To expand on current clinical, electrophysiologic, and molecular genetic findings in Knobloch syndrome. Twelve patients from 7 families underwent full ophthalmic examination and retinal imaging. Further investigations included electroretinography and neuroradiologic imaging. Bidirectional Sanger sequencing of COL18A1 was performed with segregation on available relatives. The study was conducted from July 4, 2013, to October 5, 2015. Data analysis was performed from May 20, 2014, to November 3, 2015. Results of ophthalmic and neuroradiologic assessment and sequence analysis of COL18A1. Of the 12 patients (6 males; mean age at last review, 16 years [range, 2-38 years]), all had high myopia in at least 1 eye and severely reduced vision. A sibling pair had unilateral high myopia in their right eyes and near emmetropia in their left eyes from infancy. Anterior segment abnormalities included absent iris crypts, iris transillumination, lens subluxation, and cataract. Two patients with iris transillumination had glaucoma. Fundus characteristics included abnormal collapsed vitreous, macular atrophy, and a tesselated fundus. Five patients had previous retinal detachment. Electroretinography revealed a cone-rod pattern of dysfunction in 8 patients, was severely reduced or undetectable in 2 patients, and demonstrated cone-rod dysfunction in 1 eye with undetectable responses in the other eye in 2 patients. Radiologic imaging demonstrated occipital encephalocele or meningocele in 3 patients, occipital skull defects in 4 patients, minor occipital changes in 2 patients, and no abnormalities in 2 patients. Cutaneous scalp changes were present in 5 patients

  20. Liver transplantation in a patient with primary antiphospholipid syndrome and Budd-Chiari syndrome

    Institute of Scientific and Technical Information of China (English)

    Tatiana; M; Reshetnyak; Natalia; V; Seredavkina; Maria; A; Satybaldyeva; Evgeniy; L; Nasonov; Vasiliy; I; Reshetnyak

    2015-01-01

    The antiphospholipid syndrome(APS) is an acquired thrombophilic disorder in which autoantibodies are produced to a variety of phospholipids determinants of cell membranes or phospholipid binding proteins. There are few reports about association between antiphospholipid antibodies and development of BuddChiari syndrome(BCS). We report the case of BCS development in young Russian male with primary APS. The patient underwent orthotopic liver transplantation on August 26, 2012. At present time his state is good, the blood flow in the liver restored and its function is not impaired. We report about the first time the successful use of dabigatran etexilate for prolonged anticoagulation therapy in APS patient with BCS. In addition patient is managed with immunosuppressive drugs.

  1. Orocraniofacial findings of a Pediatric Patient with Joubert Syndrome

    Science.gov (United States)

    Goswami, Mridula; Verma, Mahesh

    2016-01-01

    Joubert syndrome (JS) is a very rare autosomal recessive disorder, involving agenesis or dysgenesis of cerebellar vermis and brain stem. The neurological features of JS include hypotonia, ataxia, developmental delay, intellectual disability, abnormal eye movements, and neonatal breathing dysregulation. These may be associated with multiorgan involvement, mainly retinal dystrophy, nephronophthisis, hepatic fibrosis, and polydactyly. An obligatory hallmark feature associated with JS is the molar tooth sign (MTS), a complex midbrain-hindbrain malformation visible on brain imaging. This case report presents a pediatric case of JS in a 7-year-old girl. Joubert syndrome cases have been reported by various medical specialties in medical journals; however, this probably could be the first report of this rare developmental disorder in dental and oral health. How to cite this article Goswami M, Rajwar AS, Verma M. Orocraniofacial findings of a Pediatric Patient with Joubert Syndrome. Int J Clin Pediatr Dent 2016;9(4):379-383. PMID:28127172

  2. Prosthetic management of a patient with Treacher Collins syndrome

    Directory of Open Access Journals (Sweden)

    Madhan R

    2006-01-01

    Full Text Available Treacher Collins syndrome encompasses a group of closely related defects of the head and neck. It is a rare syndrome characterized by bilaterally symmetrical abnormalities derived from the first and second brachial arches and the nasal placode. It is an autosomal dominant disorder and its occurence ranges from 1 in 25,000 to 1 in 50,000 live births. The facial appearance of these patients can be improved by either surgical or prosthetic rehabilitation. In this case report we are presenting the features of a 13-year-old boy with Treacher Collins syndrome. A multidisplinary approach was followed in managing the situation. The various treatment options and the steps involved in making an auricular prosthesis are also discussed.

  3. [Treatment strategy of insomnia for the patients with metabolic syndrome].

    Science.gov (United States)

    Takaesu, Yoshikazu; Inoue, Yuichi

    2012-07-01

    Insomnia has been reported to underlie the development and aggravation of metabolic syndrome including hypertension, cardiovascular disease, and diabetes. Treatment of insomnia is important for both the management and prevention of these comorbid disorders. We introduced the treatment strategy of insomnia for the patients with metabolic syndrome. For the better management of insomnia, sleep hygiene education should be given first, and adequate drug therapy should be started thereafter. Cognitive behavioral therapy is useful not only for insomnia symptom but also for the reducing amount of drug and prevention of the recurrence of insomnia. We expect that progress in the management of insomnia would result in the better treatment outcome of metabolic syndrome in general practice.

  4. Bilateral Anterior Opercular Syndrome With Partial Kluver-Bucy Syndrome in a Stroke Patient: A Case Report.

    Science.gov (United States)

    Cho, Ah-Ra; Lim, Young-Ho; Chung, Sae-Hoon; Choi, Eun-Hi; Lim, Jong Youb

    2016-06-01

    Bilateral anterior opercular syndrome and partial Kluver-Bucy syndrome are associated with bilateral middle cerebral artery lesions. The combination of these two syndromes has only been reported in a child with limbic encephalitis. In this case, a 44-year-old woman with bilateral middle cerebral artery infarction, which occurred 2 years prior, could walk independently. However, she showed automatic-voluntary dissociation and anarthria with preserved writing skills. She also presented hypersexuality, hypermetamorphosis, and memory disturbances. Here, we report a case of an adult stroke patient who suffered from bilateral anterior opercular syndrome accompanied by partial Kluver-Bucy syndrome.

  5. Bilateral Anterior Opercular Syndrome With Partial Kluver–Bucy Syndrome in a Stroke Patient: A Case Report

    Science.gov (United States)

    2016-01-01

    Bilateral anterior opercular syndrome and partial Kluver–Bucy syndrome are associated with bilateral middle cerebral artery lesions. The combination of these two syndromes has only been reported in a child with limbic encephalitis. In this case, a 44-year-old woman with bilateral middle cerebral artery infarction, which occurred 2 years prior, could walk independently. However, she showed automatic-voluntary dissociation and anarthria with preserved writing skills. She also presented hypersexuality, hypermetamorphosis, and memory disturbances. Here, we report a case of an adult stroke patient who suffered from bilateral anterior opercular syndrome accompanied by partial Kluver–Bucy syndrome. PMID:27446793

  6. Hyperferritinemic syndrome: Still's disease and catastrophic antiphospholipid syndrome triggered by fulminant Chikungunya infection: a case report of two patients.

    Science.gov (United States)

    Betancur, Juan-Felipe; Navarro, Erika-Paola; Echeverry, Alex; Moncada, Pablo A; Cañas, Carlos A; Tobón, Gabriel J

    2015-11-01

    There are four medical conditions characterized by high levels of ferritin, the macrophage activation syndrome (MAS), adult onset Still' s disease (AOSD), catastrophic antiphospholipid syndrome (CAPS), and septic shock, that share similar clinical and laboratory features, suggesting a common pathogenic mechanism. This common syndrome entity is termed "the hyperferritinemic syndrome." Here, we describe two different cases of hyperferritinemic syndrome triggered by Chikungunya fever virus infection: a 21-year-old female with SLE and a 32-year-old male patient who developed AOSD after the coinfection of dengue and Chikungunya viruses.

  7. [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.

  8. Metabolic syndrome in first-time hospitalized patients with depression

    DEFF Research Database (Denmark)

    Nyboe, L; Vestergaard, C H; Lund, H

    2016-01-01

    OBJECTIVE: Studies on metabolic syndrome (MetS) in younger patients with depression are few. We examined the prevalence and progression of MetS in first-time hospitalized patients with depression during 1 year of follow-up. Furthermore, we explored putative risk factors of MetS. METHOD: We...... increase in WC and triglycerides and a non-significant increase in the prevalence of MetS. Antipsychotic medication (OR 10.5, 95% CI 1.18-94.14) and low aerobic fitness (OR 0.79, 95% CI 0.68-0.93) were significantly correlated with MetS (P Metabolic syndrome is highly prevalent...... evaluated MetS and its components in first-time hospitalized patients with depression (N = 52) and healthy controls (N = 50) (18-45 years). Physical activity, aerobic fitness, sleeping disturbances, smoking and dietary habits, and psychopharmacological treatment were recorded at baseline for all...

  9. Trochlear dysplasia and patellar instability in patients with Down syndrome

    Directory of Open Access Journals (Sweden)

    Tiago Amaral Rebouças Moreira

    2015-04-01

    Full Text Available OBJECTIVE: To analyze occurrences of trochlear dysplasia in patients with Down syndrome in the presence and absence of femoropatellar instability.METHODS: Eleven knees with stable patellae and thirteen with unstable patellae in patients with Down syndrome were compared. Radiographs were produced to evaluate patellar height, trochlear angle and femoropatellar congruence angle.RESULTS: The prevalence ratio for a high patella between the unstable and the stable patients was 1.01 using the Insall-Salvati index and 0.68 using the Caton-Deschamps index. For an abnormal congruence angle, the prevalence ratio was 2.04. An increased congruence angle was only found in four cases, all presenting instability.CONCLUSIONS: Trochlear dysplasia was only found in cases of instability. The trochlear groove angle and the femoropatellar congruence angle correlated with the presence of patellar instability.

  10. MEFV Variants in Patients with PFAPA Syndrome in Japan.

    Science.gov (United States)

    Taniuchi, Shoichiro; Nishikomori, Ryuta; Iharada, Anna; Tuji, Shoji; Heike, Toshio; Kaneko, Kazunari

    2013-01-01

    The pathogenesis of PFAPA (periodic fever, aphthous stomatitis, pharyngitis, adenitis) syndrome is unknown as yet. In order to understand whether genes implicated in other auto-inflammatory diseases might be involved in the pathogenesis of PFAPA, all variants in the genes causing familial Mediterranean fever (FMF), tumor necrosis factor (TNF) receptor-associated periodic syndrome (TRAPS), and Hyper IgD syndrome were analyzed in children with PFAPA. All variants in MEFV, TNFRSF1A, and MVK were analyzed in 20 patients with PFAPA. PFAPA were diagnosed by previous published criteria. The findings of all analyses in PFAPA patients were compared with those of unaffected normal subjects (n=62). In the 13 children of 20 with PFAPA, the heterozygous variants of MEFV (5 patients: E148Q-L110P, 2 patients: E148Q, 1 patient: E148Q-L110P/E148Q, 1 patient: E148Q-P369S-R408Q-E84K, 1 patient: E148Q-L110P-P369S-A408G, 1 patient: R202Q, 1 patient: P115R) were found. No variants belonging to TNFRSF1A or MVK were detected in children with PFAPA. The frequency of the E148Q-L110P variants in children with PFAPA was significantly higher than that observed in unaffected normal subjects (7/20 versus 8/62). The duration of the episodes of illness in PFAPA children with MEFV variants was shorter than that of patients without variants. Genes involved in the development and progression of MEFV may affect the incidence and the phenotype of PFAPA in children.

  11. Respiratory Therapy for Acute Respiratory Distress Syndrome in Cardiosurgical Patients

    Directory of Open Access Journals (Sweden)

    T. V. Zagorodnyaya

    2005-01-01

    Full Text Available The purpose of the present investigation was to improve the outcomes of intensive care in patients with acute respiratory distress syndrome after cardiac surgery under extracorporeal circulation.Materials and methods. Respiratory therapy was analyzed in 43 patients with acute respiratory distress syndrome after surgery under extracorporeal circulation. According to the procedure of artificial ventilation (AV, the patients were divided into 2 groups: 1 those who had undergone routine tracheal intubation (n=23 AND 2 THOSE who had received noninvasive intubation through a nasal mask (n=20. The respiratory parameters, blood gas composition, central hemodynamic parameters, respiratory support time, and the pattern of complications were analyzed.Results. Noninvasive artificial ventilation permits one to make the patients active in earlier periods and take a spontaneous breath, recovers the respiratory index earlier, reduces the level of positive end-expiratory pressure, the frequency of infectious complications of the tracheobronchial tree, and length of stay in an intensive care unit as compared with endotracheal AV.Conclusion. The findings suggest that noninvasive AV is highly effective and yields better results of treatment in patients with acute respiratory distress syndrome.

  12. Clinical Management of Patients With Thalassemia Syndromes.

    Science.gov (United States)

    Martin, Marie; Haines, Drucilla

    2016-06-01

    Thalassemia is a chronic inherited blood disorder that reduces hemoglobin production, causing chronic hemolytic anemia. Patients often are diagnosed via newborn screening programs. Patients diagnosed with the most severe form of thalassemia often require chronic red blood cell transfusions to control their anemia. The side effect of chronic transfusions is cumulative iron overload for which chelation therapy is required. The incidence of thalassemia is low; therefore, care is best delivered at specialized treatment centers that offer multidisciplinary coordination. This article reviews the diagnosis, management, and curative options for thalassemia. This review follows a hypothetical patient with thalassemia and his family through the major stages of the disease. Increasing knowledge about thalassemia and its management among healthcare providers can improve patient outcomes and quality of life.

  13. Refeeding syndrome in a vegan patient with stage IV gastric cancer: a novel case.

    Science.gov (United States)

    Brown, Teresa V; Moss, Rebecca A

    2015-03-01

    The refeeding syndrome encompasses the complex physiologic state that occurs in malnourished patients who receive nutrition after a period of decreased oral intake. The hallmark of the syndrome is hypophosphatemia, though other electrolyte imbalances and severe fluid shifts are commonly involved. Patients with newly diagnosed malignancies and those undergoing treatment for malignancies are at increased risk for developing the refeeding syndrome, however there are few reported cases or other data in the oncology literature regarding this syndrome in cancer patients.

  14. Safety and efficacy of angioplasty with intracoronary stenting in patients with unstable coronary syndromes. Comparison with stable coronary syndromes

    Directory of Open Access Journals (Sweden)

    Luís C. L. Correia

    2000-06-01

    Full Text Available OBJECTIVE: To assess safety and efficacy of coronary angioplasty with stent implantation in unstable coronary syndromes. METHODS: Retrospective analysis of in-hospital and late evolution of 74 patients with unstable coronary syndromes (unstable angina or infarction without elevation of the ST segment undergoing coronary angioplasty with stent placement. These 74 patients were compared with 31 patients with stable coronary syndromes (stable angina or stable silent ischemia undergoing the same procedure. RESULTS: No death and no need for revascularization of the culprit artery occurred in the in-hospital phase. The incidences of acute non-Q-wave myocardial infarction were 1.4% and 3.2% (p=0.6 in the unstable and stable coronary syndrome groups, respectively. In the late follow-up (11.2±7.5 months, the incidences of these events combined were 5.7% in the unstable coronary syndrome group and 6.9% (p=0.8 in the stable coronary syndrome group. In the multivariate analysis, the only variable with a tendency to significance as an event predictor was diabetes mellitus (p=0.07; OR=5.2; 95% CI=0.9-29.9. CONCLUSION: The in-hospital and late evolutions of patients with unstable coronary syndrome undergoing angioplasty with intracoronary stent implantation are similar to those of the stable coronary syndrome group, suggesting that this procedure is safe and efficacious when performed in unstable coronary syndrome patients.

  15. Contraception in patients with systemic lupus erythematosus and antiphospholipid syndrome.

    Science.gov (United States)

    Sammaritano, L R

    2014-10-01

    Contraceptive choice in patients with systemic lupus erythematosus (SLE) and antiphospholipid syndrome (APS) is challenging but important. Long-acting forms of contraception such as the progesterone intrauterine device (IUD) or subdermal implant are preferable for most patients. Estrogen-containing hormonal contraceptives may be used in stable, inactive SLE patients but are contraindicated in patients with positive antiphospholipid antibodies (aPL). The levonorgestrel IUD is a good alternative for many APS patients and often decreases menstrual blood loss. It is prudent to avoid depot medroxyprogesterone acetate (DMPA) in corticosteroid-treated or other patients at risk for osteoporosis because of the inhibition of ovulation. Effective and safe contraception in patients with SLE and APS permits planning for pregnancy during inactive disease and while on pregnancy-compatible medications, preventing a poorly timed pregnancy that may jeopardize maternal and/or fetal health.

  16. [Intraabdominal hypertension syndrome in patients with abdominal sepsis].

    Science.gov (United States)

    Kryvoruchko, I A; Ivanova, Iu V; Povelichenko, M S; Andreieshchev, S A

    2014-05-01

    Investigations were conducted in 53 patients, operated on in 2013 yr for abdominal sepsis (AS). The patients state severity was determined in accordance to the systemic inflammatory reaction and the polyorgan insufficiency severity. In 28 patients (group I) AS was diagnosed, in 14 (group II)--severe AS, in 11 (group III)--a septic shock. Tactics of surgical management of the patients have included two main measures: the infection origin control (source control), and control of the affected organ function and systemic defense mechanisms (damage control). In all the patients in AS the intraabdominal pressure rising was revealed. Syndrome of intraabdominal hypertension was noted in 10 (18.9%) patients (in 4--while presence of severe AS, and in 6--in septic shock). Lethality was the highest in intraabdominal hypertension degrees III and IV (11 of 25 patients have died).

  17. Lipid Profile and Leptin Levels in Patients with Metabolic Syndrome

    Directory of Open Access Journals (Sweden)

    This paper should be cited as: Esmaeili R, Hassanzadeh, T . [ Lipid Profile and Leptin Levels in Patients with Metabolic Syndrome ]. mljgoums . 201 4 ; 8 ( 3 : 23 - 29 [Article in Persian] Esmaeili, R.

    2014-09-01

    Full Text Available Background and Objective: Metabolic syndrome called a cluster of several metabolic disorders is associated with increased risk of cardiovascular diseases. Genetic differences in leptin receptor gene are related with the concentration and activity of leptin in that these discrepancies can influence lipid levels. We aimed to determine the association between the leptin receptor gene polymorphism on serum lipid profile and leptin activity in metabolic syndrome patients. Material and Methods: This case-control study was conducted on 200 patients with metabolic syndrome and 200 healthy individuals. Polymerase Chain Reaction (PCR and Restriction Fragment Length Polymorphisms (RFLP were used to determine genotypic distribution and allelic frequencies of polymorphisms, respectively. The plasma leptin activity was measured by a kit in a fluorescence spectrometer, and Lipid concentration by routine biochemical and enzymatic assays. Results: Two groups had significant differences in all measured factors such as lipid profiles, fast blood sugar, waist circumference, blood pressure and leptin concentration (P< 0.05. Conclusion: Given that the two groups had significant differences in blood and body measurements, no role of K656N polymorphism was observed. Overall, Lys656Asn (K656N polymorphism of leptin receptor gene is not associated with serum lipid profile and leptin activity with metabolic syndrome.

  18. Neuropathy in a cohort of restless leg syndrome patients.

    Science.gov (United States)

    Bastia, Jogendra K; Bhoi, Sanjeev K; Kalita, Jayantee; Misra, Usha K

    2015-08-01

    This study aims to evaluate the types of neuropathy in a cohort of restless leg syndrome (RLS) patients and compare them with primary RLS. RLS symptoms can occur in peripheral neuropathy and may cause diagnostic confusion, and there is a paucity of studies comparing neuropathic RLS and primary RLS. Patients with RLS diagnosed according to the international restless legs syndrome study group criteria were categorized as primary RLS or secondary. Those with evidence of peripheral neuropathy were categorized as neuropathic RLS. The demographic, clinical, laboratory profile and therapeutic response to dopamine agonists at 6 months and 1 year of neuropathic RLS patients were compared between primary and secondary RLS patients. There were 82 patients with RLS of whom 22 had peripheral neuropathy and 28 had primary RLS. The etiology of neuropathic RLS was diabetes mellitus in 13, renal failure in six, hypothyroidism in five, demyelinating in two, nutritional deficiency in three, leprosy in one, and miscellaneous etiologies in four patients. The neuropathic RLS patients were older (46.0±14.1 versus 35.8±15.4 years), had shorter duration of illness (1.4±1.4 versus 6.2±6.2 years) and were more frequently symptomatic. RLS symptoms were asymmetric in primary RLS patients compared to neuropathic RLS (25% versus 0%). The therapeutic response was similar in both groups. Copyright © 2015 Elsevier Ltd. All rights reserved.

  19. Endocrine profile of patients with post-tubal-ligation syndrome.

    Science.gov (United States)

    Hargrove, J T; Abraham, G E

    1981-07-01

    The endocrine profile of the midluteal phase was assessed in 29 patients with the post-tubal-ligation syndrome, consisting of pain, bleeding and premenstrual tension. Compared to normal controls, the patients had a high serum estradiol and a low serum progesterone level. This abnormal luteal function may be responsible for the symptoms observed and may also explain the failure to conceive following successful reversal of tubal ligation. It is recommended that patients seeking sterilization reversal be screened for abnormal luteal function preoperatively. Selection of sterilization procedures that minimize alteration in luteal function should be given high priority.

  20. Therapy reduction in patients with Down syndrome and myeloid leukemia

    DEFF Research Database (Denmark)

    Uffmann, Madita; Rasche, Mareike; Zimmermann, Martin

    2017-01-01

    Children with myeloid leukemia associated with Down syndrome (ML-DS) have superior outcome compared with non-DS patients, but suffer from higher constitutional cytotoxic drug susceptibility. We analyzed the outcome of 170 pediatric patients with ML-DS enrolled in the prospective, multicenter, open......-label, nonrandomized ML-DS 2006 trial by Nordic Society for Pediatric Hematology and Oncology (NOPHO), Dutch Childhood Oncology Group (DCOG), and Acute Myeloid Leukemia-Berlin-Frankfurt-Münster (AML-BFM) study group. Compared with the historical control arm (reduced-intensity protocol for ML-DS patients from the AML...

  1. Beyond the Cut Hunter: A Historical Epidemiology of HIV Beginnings in Central Africa.

    Science.gov (United States)

    Rupp, Stephanie; Ambata, Philippe; Narat, Victor; Giles-Vernick, Tamara

    2016-12-01

    In the absence of direct evidence, an imagined "cut hunter" stands in for the index patient of pandemic HIV/AIDS. During the early years of colonial rule, this explanation goes, a hunter was cut or injured from hunting or butchering a chimpanzee infected with simian immunodeficiency virus, resulting in the first sustained human infection with the virus that would emerge as HIV-1M. We argue here that the "cut hunter" relies on a historical misunderstanding and ecological oversimplification of human-chimpanzee (Pan Troglodytes troglodytes) interactions that facilitated pathogenic transmission. This initial host shift cannot explain the beginnings of the HIV/AIDS pandemic. Instead, we must understand the processes by which the virus became transmissible, possibly between Sangha basin inhabitants and ultimately reached Kinshasa. A historical epidemiology of the late nineteenth and twentieth centuries, provides a much-needed corrective to the major shortcomings of the cut hunter. Based on 62 oral historical interviews conducted in southeastern Cameroon and archival research, we show that HIV emerged from ecological, economic, and socio-political transformations of the late nineteenth and twentieth centuries. The gradual imposition of colonial rule built on and reoriented ecologies and economies, and altered older patterns of mobility and sociality. Certain changes may have contributed to the initial viral host shift, but more importantly, facilitated the adaptation of HIV-1M to human-to-human transmission. Our evidence suggests that the most critical changes occurred after 1920. This argument has important implications for public health policy, underscoring recent work emphasizing alternative pathways for zoonotic spillovers into human beings.

  2. Newborn screening for hunter disease: a small-scale feasibility study.

    Science.gov (United States)

    Ruijter, G J G; Goudriaan, D A; Boer, A M; Van den Bosch, J; Van der Ploeg, A T; Elvers, L H; Weinreich, S S; Reuser, A J

    2014-01-01

    Hunter disease (Mucopolysaccharidosis type II, MPS II) is an X-linked lysosomal storage disorder caused by deficiency of iduronate-2-sulfatase (IDS). Two main therapies have been reported for MPS II patients: enzyme-replacement therapy (ERT) and hematopoietic stem-cell transplantation (HSCT). Both treatment modalities have been shown to improve some symptoms, but the results with regard to cognitive functioning have been poor. Early initiation of therapy, i.e., before neurological symptoms have manifested, may alter cognitive outcome. The need for early identification makes Hunter disease a candidate for newborn screening (NBS). Our objective was to explore the use of a fluorometric assay that could be applicable for high-throughput analysis of IDS activity in dried blood spots (DBS). The median IDS activity in DBS samples from 1,426 newborns was 377 pmol/punch/17 h (range 78-1111). The IDS activity in one sample was repeatedly under the cutoff value (set at 20% of the median value), which would imply a recall rate of 0.07%. A sample from a clinically diagnosed MPS II individual, included in each 96-well test plate, had IDS activities well below the 20% cutoff value. Coefficients of variation in quality control samples with low, medium, and high IDS activities (190, 304, and 430 pmol/punch/17 h, respectively) were 12% to 16%. This small-scale pilot study shows that newborn screening for Hunter disease using a fluorometric assay in DBS is technically feasible with a fairly low recall rate. NBS may allow for identification of infants with Hunter disease before clinical symptoms become evident enabling early intervention.

  3. Chest wall syndrome among primary care patients: a cohort study

    Directory of Open Access Journals (Sweden)

    Verdon François

    2007-09-01

    Full Text Available Abstract Background The epidemiology of chest pain differs strongly between outpatient and emergency settings. In general practice, the most frequent cause is the chest wall pain. However, there is a lack of information about the characteristics of this syndrome. The aims of the study are to describe the clinical aspects of chest wall syndrome (CWS. Methods Prospective, observational, cohort study of patients attending 58 private practices over a five-week period from March to May 2001 with undifferentiated chest pain. During a one-year follow-up, questionnaires including detailed history and physical exam, were filled out at initial consultation, 3 and 12 months. The outcomes were: clinical characteristics associated with the CWS diagnosis and clinical evolution of the syndrome. Results Among 24 620 consultations, we observed 672 cases of chest pain and 300 (44.6% patients had a diagnosis of chest wall syndrome. It affected all ages with a sex ratio of 1:1. History and sensibility to palpation were the keys for diagnosis. Pain was generally moderate, well localised, continuous or intermittent over a number of hours to days or weeks, and amplified by position or movement. The pain however, may be acute. Eighty-eight patients were affected at several painful sites, and 210 patients at a single site, most frequently in the midline or a left-sided site. Pain was a cause of anxiety and cardiac concern, especially when acute. CWS coexisted with coronary disease in 19 and neoplasm in 6. Outcome at one year was favourable even though CWS recurred in half of patients. Conclusion CWS is common and benign, but leads to anxiety and recurred frequently. Because the majority of chest wall pain is left-sided, the possibility of coexistence with coronary disease needs careful consideration.

  4. CRTAP mutation in a patient with Cole-Carpenter syndrome.

    Science.gov (United States)

    Balasubramanian, Meena; Pollitt, Rebecca C; Chandler, Kate E; Mughal, M Z; Parker, Michael J; Dalton, Ann; Arundel, Paul; Offiah, Amaka C; Bishop, Nicholas J

    2015-03-01

    In 1987, Cole and Carpenter reported two unrelated infants with multiple fractures and deformities of bone, with a skeletal phenotype similar to severe osteogenesis imperfecta. In addition, these patients also had proptosis, blue sclerae, hydrocephalus, and a distinct facial gestalt. They were reported to be of normal intelligence. Radiologically, these patients had characteristic skeletal manifestations including craniosynostosis and deformities similar to severe progressive osteogenesis imperfecta. Since the first description, there have only been a few other reports of patients with a similar phenotype. Collagen studies performed in reported patients have been normal. The molecular basis of this syndrome has not been elucidated and the inheritance pattern is still unknown. We report on a child with Cole-Carpenter syndrome phenotype who has a homozygous c.118G>T mutation in exon 1 of the CRTAP gene. We describe the clinical features and correlate this with her molecular results. This is the first report towards elucidating the molecular basis of Cole-Carpenter syndrome.

  5. Entheseal ultrasound abnormalities in patients with SAPHO syndrome.

    Science.gov (United States)

    Queiro, Rubén; Alonso, Sara; Alperi, Mercedes; Fernández, Mónica; Tejón, Patricia; Riestra, José L; Arboleya, Luis; Ballina, Javier

    2012-06-01

    This study was conducted to investigate the presence and characteristics of the ultrasound lesions that may be found in the entheses of patients with SAPHO (synovitis, acne, pustulosis, hyperostosis, osteitis) syndrome. This cross-sectional study included 15 patients with SAPHO syndrome and 30 healthy controls matched for age, sex and body mass index. Subjects with regular sport activities as well as those with other rheumatic conditions were excluded from the study. Ultrasonography was used in both groups to study 14 entheses of the upper and lower extremities. Different elementary lesions representative of enthesis damage were defined. A total of 210 entheses in the study group and 420 in the control group were evaluated. Only one patient presented clinical enthesitis. In the study group, seven of the 15 patients (47%) showed morpho-structural entheseal alterations, versus only four of the 30 controls (13.3%; p SAPHO showed ultrasound alterations in 32/210 entheses (15%), while the controls showed alterations in 20/420 entheses (4.8%), p SAPHO syndrome.

  6. Thrombocytosis:A paraneoplastic syndrome in patients with hepatocellular carcinoma

    Institute of Scientific and Technical Information of China (English)

    Shinn-Jang Hwang; Chun-Chung Lee; Full-Young Chang; Shou-Dong Lee; Jiing-Chyuan Luo; Chung-Pin Li; Cheng-Wei Chu; Jaw-Ching Wu; Chiung-Ru Lai; Jen-Huei Chiang; Gar-Yang Chau; Wing-Yiu Lui

    2004-01-01

    AIM: Hepatocellular carcinoma (HCC) patients manifest a variety of paraneoplastic syndromes. Thrombocytosis was reported in children with hepatoblastoma. The aims of this study were to evaluate the prevalence and dinical significance of thrombocytosis in HCC patients and its relationships with serum thrombopoietin (TPO).METHODS: We retrospectively reviewed clinical, biochemical and image data of 1 154 HCC patients. In addition, we measured platelet count and serum TPO in HCC patients with and without thrombocytosis, in patients with cirrhosis,chronic hepatitis and healthy subjects in a cross-sectional study.RESULTS: Thirty-one (2.7%) of 1 154 HCC patients had thrombocytosis (platelet count ≥400 K/mm3). HCC patients with thrombocytosis were significantly younger, had a higher serum α-fetoprotein, higher rate of main portal vein thrombosis, larger tumor volume, shorter survival, and were less likely to receive therapy than HCC patients without thrombocytosis. Multivariate logistic regression analyses showed that tumor volumes ≥30% and serum α-fetoprotein ≥ 140 000 ng/mL could significantly predict thrombocytosis.HCC patients with thrombocytosis had a significantly higher mean serum TPO than those without, as well as patients with cirrhosis, chronic hepatitis and healthy subjects.Platelet count and serum TPO dropped significantly after tumor resection in HCC patients with thrombocytosis and re-elevated after tumor recurred. Furthermore, the expression of TPO mRNA was found to be more in tumor tissues than in non-tumor tissues of liver in an HCC patient with thrombocytosis.CONCLUSION: Thrombocytosis is a paraneoplastic syndrome of HCC patients due to the overproduction of TPO by HCC.It is frequently associated with a large tumor volume and high serum α-fetoprotein.

  7. Thrombocytosis: A paraneoplastic syndrome in patients with hepatocellular carcinoma

    Science.gov (United States)

    Hwang, Shinn-Jang; Luo, Jiing-Chyuan; Li, Chung-Pin; Chu, Cheng-Wei; Wu, Jaw-Ching; Lai, Chiung-Ru; Chiang, Jen-Huei; Chau, Gar-Yang; Lui, Wing-Yiu; Lee, Chun-Chung; Chang, Full-Young; Lee, Shou-Dong

    2004-01-01

    AIM: Hepatocellular carcinoma (HCC) patients manifest a variety of paraneoplastic syndromes. Thrombocytosis was reported in children with hepatoblastoma. The aims of this study were to evaluate the prevalence and clinical significance of thrombocytosis in HCC patients and its relationships with serum thrombopoietin (TPO). METHODS: We retrospectively reviewed clinical, biochemical and image data of 1154 HCC patients. In addition, we measured platelet count and serum TPO in HCC patients with and without thrombocytosis, in patients with cirrhosis, chronic hepatitis and healthy subjects in a cross-sectional study. RESULTS: Thirty-one (2.7%) of 1154 HCC patients had thrombocytosis (platelet count ≥ 400 K/mm3). HCC patients with thrombocytosis were significantly younger, had a higher serum α-fetoprotein, higher rate of main portal vein thrombosis, larger tumor volume, shorter survival, and were less likely to receive therapy than HCC patients without thrombocytosis. Multivariate logistic regression analyses showed that tumor volumes ≥ 30% and serum α-fetoprotein ≥ 140000 ng/mL could significantly predict thrombocytosis. HCC patients with thrombocytosis had a significantly higher mean serum TPO than those without, as well as patients with cirrhosis, chronic hepatitis and healthy subjects. Platelet count and serum TPO dropped significantly after tumor resection in HCC patients with thrombocytosis and re-elevated after tumor recurred. Furthermore, the expression of TPO mRNA was found to be more in tumor tissues than in non-tumor tissues of liver in an HCC patient with thrombocytosis. CONCLUSION: Thrombocytosis is a paraneoplastic syndrome of HCC patients due to the overproduction of TPO by HCC. It is frequently associated with a large tumor volume and high serum α-fetoprotein. PMID:15300887

  8. Impairment of polymorphonuclear leucocyte function in patients with acquired immunodeficiency syndrome and with lymphadenopathy syndrome.

    Science.gov (United States)

    Lazzarin, A; Uberti Foppa, C; Galli, M; Mantovani, A; Poli, G; Franzetti, F; Nóvati, R

    1986-01-01

    Granulocyte functions were studied in 20 patients with acquired immunodeficiency syndrome (AIDS), 20 subjects with lymphadenopathy syndrome (LAS) and 15 symptom-free drug addicts (SFDA). Polymorphonuclear leucocyte (PMNL) phagocytosis and killing of C. albicans appeared normal in homosexual men with AIDS, while drug addicts with AIDS or LAS and SFDA showed a significant defect of these functions as compared to healthy controls. Migration of PMNL in response to a chemoattractant was normal in SFDA, but markedly defective both in LAS and in AIDS patients. In the AIDS group no significant differences were evident between homosexual men and drug addicts. We conclude that defective PMNL phagocytosis and killing, unlike defective migration, are somehow related to drug abuse rather than to infection with the causative agent of the immunodeficiency. PMID:3791696

  9. Novel mutations in BCOR in three patients with oculo-facio-cardio-dental syndrome, but none in Lenz microphthalmia syndrome.

    Science.gov (United States)

    Horn, Denise; Chyrek, Magdalena; Kleier, Saskia; Lüttgen, Sabine; Bolz, Hanno; Hinkel, Georg-Klaus; Korenke, Georg Christoph; Riess, Angelika; Schell-Apacik, Can; Tinschert, Sigrid; Wieczorek, Dagmar; Gillessen-Kaesbach, Gabriele; Kutsche, Kerstin

    2005-05-01

    Oculo-facio-cardio-dental (OFCD) syndrome is a rare X-linked dominant condition with male lethality characterized by microphthalmia, congenital cataracts, facial dysmorphic features, congenital heart defects, and dental anomalies. Mutations in BCOR (BCL6 co-repressor) located in Xp11.4 have been described to cause OFCD syndrome. Lenz microphthalmia syndrome is inherited in an X-linked recessive pattern comprising microphthalmia/anophthalmia, mental retardation, malformed ears, digital, skeletal, and urogenital anomalies (synonym: microphthalmia with associated anomalies (MAA)). One locus for MAA has been mapped to Xq27-q28. Nonetheless, linkage and subsequent mutation analysis revealed a single missense mutation (p.P85L) in BCOR in a large family with presumed Lenz microphthalmia syndrome (MAA2). We describe novel mutations in BCOR in three patients with OFCD syndrome, two small deletions (c.2488_2489delAG and c.3286delG) and a submicroscopic deletion of about 60 kb encompassing at least BCOR exons 2-15. No BCOR mutation was detected in eight patients with Lenz microphthalmia syndrome. Our data confirm that BCOR is the causative gene for OFCD syndrome; however, the failure to identify any mutation in patients with Lenz microphthalmia syndrome together with the oligosymptomatic phenotype in the reported MAA2 patients suggest that BCOR is not the major gene for this syndrome.

  10. Remote clinical prognosis in patients with coronary X syndrome

    Directory of Open Access Journals (Sweden)

    Sebov D.M.

    2015-09-01

    Full Text Available The article analyzes data of 3234 coronary angiographies with established coronary X syndrome (CXS in 217 cases, herewith expressed tortuosity of coronary arteries (ETCA was found out in 148 (more than 2/3 of cases. A 5-years’ analysis of cardio-vascular events (CVE in patients with CXS in comparison with the group of IHD patients and initial atherosclerosis of coronary arteries was made. Absence of reliable difference of developing severe cardio-vascular events (SCVE bet¬ween patients with initial atherosclerosis and CXS was proved. Risk of CVE development was significantey higher in patients with ETCA, OR=4,93; 95% (0,62; 3929. Patients with CXS had higher risk of severe arrhythmias development as compared with IHD patients with initial atherosclerosis: OR=2,36 (1,01; 5,56. There was no reliable difference between lethality of any causes and number of coronary interventions in all groups.

  11. Dapsone-induced infectious mononucleosis-like syndrome in a patient with pemphigus vulgaris

    Institute of Scientific and Technical Information of China (English)

    ZHOU Jian-guang; CAI Sui-qing; ZHENG Min

    2007-01-01

    @@ Dapsone syndrome is characterized by high fever, skin rash, methemoglobinemia, liver toxicity, and generalized lymphadenopathy. The incidence of the dapsone syndrome is increasing with the extensive application of dapsone. However it is rarely reported in pemphigus. We present a case of "infectious mononucleosis-like" dapsone syndrome in a patient with pemphigus vulgaris. The syndrome appeared when he was being treated methylprednisolone, which was commonly used as a treatment for dapsone syndrome.

  12. Radial tunnel syndrome. Findings and treatment in 17 patients

    Directory of Open Access Journals (Sweden)

    Gustavo Alberto Breglia

    2015-05-01

    Full Text Available Backround Radial tunnel syndrome is a condition secondary to the intermittent entrapment of the posterior interosseous nerve between superficial and deep mass of short supinator adjacent structures, such as vessels and fascias. The purpose of this study was to identify the anatomical structures that produce the eventual compression, to establish and communicate the differences in the subjective pain perception before and after the release of the posterior interosseous nerve in the radial tunnel. Method Between 2009 and 2014, 17 patients underwent surgical treatment by posterior interosseous nerve release. We used the approach between the first external radial and brachioradialis. Patients were assessed by visual analogue scale for pain intensity before surgery and at week 6, and according to the Roles and Maudsley functional criteria. Results The causes of posterior interosseous nerve compression were fibrous band of short supinator (arcade of Frohse (7 cases, recurrent vessels (4 cases, compression by the mass of the superficial portion of the short supinator muscle (2 cases and secondary compression by extensor carpi radialis brevis tendon (4 cases. Results were excellent (4 patients, good (10 patients and fair (3 patients. Patients treated through the Labor Risk Insurance had worse outcomes than those who were not covered by this system. Conclusions Radial tunnel syndrome is a condition that must be taken into account when there is refractory lateral epicondylalgia. This disease has a marked effect in patients with labor conflict, which may bias the outcome of treatment.

  13. The Relationship between Iron Deficiency and Restless Legs Syndrome in Hemodialysis Patients

    Directory of Open Access Journals (Sweden)

    R Ghanei Gheshlagh

    2012-10-01

    Full Text Available Introduction: Restless legs syndrome is a neurological disorder; hemodialysis patients seem to suffer more from this syndrome. Although the pathophysiology of restless legs syndrome is still unknown, assessment of factors associated with this syndrome can help to develop medical knowledge in this field. The present study assessed the relationship between restless legs syndrome, serum iron, and serum ferritin levels in patients on hemodialysis. Methods: This descriptive study was carried out with purposive sampling method on 168 hemodialysis patients who referred to the Urmia Taleghani Hospital Hemodialysis Unit. Data were gathered using restless legs syndrome questionnaire and laboratory Index of serum iron and ferritin. Data were analyzed using descriptive and inferential statistical tests. Results: The study results revealed that 38.7 percent of samples complained from restless legs syndrome whose average score serum iron was 78±29.3 μg. Results showed in hemodialysis patients with restless legs syndrome, serum iron and serum ferritin levels were significantly lower than hemodialysis patients without restless legs syndrome (p=0. 02, p=0.005. Conclusion: Considering the high prevalence of restless legs syndrome in patients with hemodialysis, identification of factors associated with this syndrome and providing the necessary solutions for modifying or eliminating the factors, seem to be necessary. Since the relationship between indicators of iron and ferritin and restless legs syndrome in hemodialysis patients is confirmed, the results can be helpful in the treatment and management of these patients.

  14. A patient with Eagle syndrome: radiological and scintigraphic evaluation.

    Science.gov (United States)

    Yildiray, Sisman; Cumali, Gokce; Ismail, Ciftci; Elif, Tarim Ertas

    2012-01-01

    A 42-year-old man who had been having otalgia and facial and neck pain for 6 months presented for a routine dental examination. He had suffered two head traumas, the first 20 years ago and the second 4 years ago. A panoramic radiograph (PR) was taken as a screening film after the clinical examination. Bilateral styloid process elongation (SPE) was detected, and the patient was diagnosed as having Eagle syndrome. The styloid process (SP) length was 78 mm on the right and 74 mm on the left on multislice computed tomography (MSCT). Bone scan of the cranium showed normal uptake of radiotracer in the cranial bones and some little activity was detected as a silhouette in the localization of SPE in planar and SPECT images. To the best of our knowledge, this is the first case investigating SPE by bone scintigraphy in a patient with Eagle syndrome.

  15. A patient with Eagle syndrome: Radiological and scintigraphic evaluation

    Directory of Open Access Journals (Sweden)

    Sisman Yildiray

    2012-01-01

    Full Text Available A 42-year-old man who had been having otalgia and facial and neck pain for 6 months presented for a routine dental examination. He had suffered two head traumas, the first 20 years ago and the second 4 years ago. A panoramic radiograph (PR was taken as a screening film after the clinical examination. Bilateral styloid process elongation (SPE was detected, and the patient was diagnosed as having Eagle syndrome. The styloid process (SP length was 78 mm on the right and 74 mm on the left on multislice computed tomography (MSCT. Bone scan of the cranium showed normal uptake of radiotracer in the cranial bones and some little activity was detected as a silhouette in the localization of SPE in planar and SPECT images. To the best of our knowledge, this is the first case investigating SPE by bone scintigraphy in a patient with Eagle syndrome.

  16. Eosinophilic Enteritis with Ascites in a Patient with Overlap Syndrome

    Directory of Open Access Journals (Sweden)

    Spyros Aslanidis

    2009-01-01

    Full Text Available Gastrointestinal involvement is frequent in patients with systemic lupus erythematosus (SLE. Eosinophilic gastroenteritis, however, has only rarely been described in rheumatological conditions, despite its reported connection to autoimmune diseases, such as hypereosinophilic syndrome, vasculitides, and systemic mastoidosis. It presents typically with abdominal pain and diarrhea and is only exceptionally associated with ascites. Diagnosis can be problematic, as several other clinical conditions (malignancies, infection/tuberculosis, and inflammatory bowel diseases have to be ruled out. It is basically a nonsurgical disease, with excellent recovery on conservative treatment. We report the rare case of a young woman with overlap syndrome who presented with abdominal pain and ascites. The diagnosis of eosinophilic enteritis was made based on clinical, radiological, and laboratory criteria. The patient was treated with corticosteroids with excellent response.

  17. Oral health management of a patient with 47,XYY syndrome.

    Science.gov (United States)

    Shah, Altaf Hussain; Manjunatha, B S; Bindayel, Naif A; Khounganian, Rita

    2013-12-05

    The 47,XYY syndrome is an aneuploidy (abnormal number) of sex chromosomes, where a human male receives an extra Y chromosome, making 47 chromosomes instead of the usual 46. Individuals with 47,XYY are usually physically normal and tend to be tall and thin. They are not at increased risk of mental retardation and cardiovascular diseases. They may have speech delay, hyperactivity and normal/decreased IQ level. Behavioural problems are not common in 47,XYY individuals. There have been reports that suggest the tooth-size increase in 47,XYY males is due to a direct genetic effect. The patient presented with multiple over-retained deciduous, unerupted permanent teeth and increased incidence of carious lesions may be attributed to decreased oral hygiene maintenance. The present article describes the medical and dental history along with the clinical management of oral health issues in an 18-year-old male patient with 47,XYY syndrome having normal physical structure and development.

  18. Oral health management of a patient with 47,XYY syndrome

    Science.gov (United States)

    Shah, Altaf Hussain; Manjunatha, B S; Bindayel, Naif A; Khounganian, Rita

    2013-01-01

    The 47,XYY syndrome is an aneuploidy (abnormal number) of sex chromosomes, where a human male receives an extra Y chromosome, making 47 chromosomes instead of the usual 46. Individuals with 47,XYY are usually physically normal and tend to be tall and thin. They are not at increased risk of mental retardation and cardiovascular diseases. They may have speech delay, hyperactivity and normal/decreased IQ level. Behavioural problems are not common in 47,XYY individuals. There have been reports that suggest the tooth-size increase in 47,XYY males is due to a direct genetic effect. The patient presented with multiple over-retained deciduous, unerupted permanent teeth and increased incidence of carious lesions may be attributed to decreased oral hygiene maintenance. The present article describes the medical and dental history along with the clinical management of oral health issues in an 18-year-old male patient with 47,XYY syndrome having normal physical structure and development. PMID:24311410

  19. [Pseudomeigs syndrome in a patient with Krukenberg's tumor].

    Science.gov (United States)

    Bayod, M J Herráiz; Carlón, M Elorz; Idoate, M A

    2007-01-01

    We report the case of a fiftyone-year-old woman with a past medical history of Linfoma no Hodking and a gastric adenocarcinoma with signet ring cells. She came to our institution with a twenty month history of dysnea secondary to pleural effussion, bilateral lower extremity edema and probably had ascitis. On CT and US two bilateral pelvic masses were found and biopsied. The anatomopathological analysis showed bilateral ovarian implants from signet ring cell adenocarcinoma (Krukenberg tumor). This patient developed a PseudoMeigs syndrome consisting on malignant ovarian tumor asociated with ascitis and pleural effusion without malignant cells. Oncological patients who present with ascitis and benign pleural effusion, the diagnosis of PseudoMeigs syndrome should be considered.

  20. Giant cell lichenoid dermatitis in a patient with baboon syndrome.

    Science.gov (United States)

    Khelifa-Hamdani, Elhem; Touati-Serraj, Monia; Perriard, Jacqueline; Chavaz, Pierre; Saurat, Jean-Hilaire; Kaya, Gürkan

    2008-10-01

    Giant cell lichenoid dermatitis is a recently described pathological entity, which can be seen as an unusual lichenoid drug eruption, a manifestation of sarcoidosis or within herpes zoster scars. Histopathological findings include focal vacuolar alteration of the basal layer with cytoid bodies, dermal and intraepidermal multinucleated giant cells and a mixed chronic inflammatory infiltrate with a lichenoid pattern consisting of lymphocytes, histiocytes, eosinophils and plasma cells. Here, we report a giant cell lichenoid dermatitis in a 41-year-old male patient who developed, 3 days after intravenous treatment with amoxicillin-clavulanic acid for erysipelas of the left leg, a clinical picture suggesting a baboon syndrome characterized by an erythematous and pruritic eruption on the axillary, inguinal and popliteal areas and the anterior side of elbows. This is the first reported case of giant cell lichenoid dermatitis in a patient with baboon syndrome.

  1. Successful Pulmonary Endarterectomy in a Patient with Klinefelter Syndrome

    Directory of Open Access Journals (Sweden)

    E. Wierda

    2012-01-01

    Full Text Available Klinefelter syndrome (KS is a frequent genetic disorder due to one or more supernumerary X chromosomes. KS is associated with an increased risk for venous thromboembolic events like deep venous thrombosis and pulmonary embolism. This paper describes a 37-year-old male patient with KS referred to our tertiary center with chronic thromboembolic pulmonary hypertension, and who was successfully treated by pulmonary endarterectomy.

  2. Rufinamide in patients with Lennox-Gastaut syndrome

    OpenAIRE

    Clark PO; Gibson PA

    2016-01-01

    Peggy O Clark,1 Patricia A Gibson2 1Cincinnati Children’s Hospital Medical Center, The University of Cincinnati College of Medicine, Cincinnati, OH, 2Epilepsy Information Service, Wake Forest University School of Medicine, Winston-Salem, NC, USA Objectives: Lennox–Gastaut syndrome (LGS) is an epileptic encephalopathy with an onset at the age of ~4 years. LGS is notoriously difficult to manage, as most patients experience multiple seizures per day, despite their concomitant...

  3. Rufinamide in patients with Lennox-Gastaut syndrome

    OpenAIRE

    2016-01-01

    Peggy O Clark,1 Patricia A Gibson2 1Cincinnati Children’s Hospital Medical Center, The University of Cincinnati College of Medicine, Cincinnati, OH, 2Epilepsy Information Service, Wake Forest University School of Medicine, Winston-Salem, NC, USA Objectives: Lennox–Gastaut syndrome (LGS) is an epileptic encephalopathy with an onset at the age of ~4 years. LGS is notoriously difficult to manage, as most patients experience multiple seizures per day, despite their concomitant...

  4. Aortic stiffness in patients with cardiac syndrome X.

    Science.gov (United States)

    Gorgulu, Sevket; Uslu, Nevzat; Eren, Mehmet; Celik, Seden; Yildirim, Aydin; Dagdeviren, Bahadir; Tezel, Tuna

    2003-12-01

    Recently, the close relationship between aortic stiffness and cardiovascular mortality has aroused the interest of investigators in carrying out studies related to aortic stiffness. This study aims to investigate the aortic stiffness parameters in patients with cardiac syndrome X, a disorder that is believed to be a generalized disturbance of the vasodilator function of small arteries. 18 patients with typical chest pain and angiographically normal coronary arteries associated with a positive exercise test were included in the study. The control group consisted of 27 patients with angiographically normal coronary arteries and no ischaemia on exercise testing. Antianginal medication was withheld 4 weeks before the study and transthoracic echocardiography was performed using a Hewlett-Packard Sonos 1500 instrument with a 2.5 MHz phased array transducer. Ascending aorta diameters were measured on the M-mode tracing at a level 3 cm above the aortic valve. Diameter change, pulse pressure, aortic strain and distensibility were measured as aortic stiffness parameters. The aortic diameter change was less in the syndrome X group than in the control group (0.15 +/- 0.04 cm/m2 vs. 0.28 +/- 0.12 cm/m2, p < 0.001). Likewise, aortic strain (9 +/- 3% vs. 18 +/- 8%, p < 0.001) and distensibility (4.01 +/- 1.71 cm2 x dyn(-1) x 10(-3) vs. 9.95 +/- 5.08 cm2 x dyn(-1) x 10(-3), p < 0.001) was significantly lower in the syndrome X group than in the control group. The deterioration in aortic elasticity properties in patients with cardiac syndrome X suggests that this disease may be a more generalized disturbance of the vasculature.

  5. 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...... support were obtained. EXPERT OPINION: Teduglutide seems to be safe and well-tolerated and demonstrates restoration of structural and functional integrity of the remaining intestine with significant intestinotrophic and proabsorptive effects, facilitating a reduction in diarrhea and an equivalent...

  6. Oral hygiene of patients with self-care deficit syndrome

    OpenAIRE

    Silva de Brito, Leonardo Francisco; de Oliveira Vargas, Mara Ambrosina; Cezar Leal, Sandra Maria

    2008-01-01

    This is a qualitative, descriptive, and exploratory research study. The population comprised nurses in adult intensive care units. Data collection was conducted through a semi-structured interview, using Thematic Content Analysis. It was concluded that it is difficult to understand the consequences that the non-promotion of oral hygiene may entail in the clinical evolution of patients with the syndrome of self-care deficit. It was observed that bureaucratic factors still interfere in the serv...

  7. Gabapentin withdrawal syndrome in a post-liver transplant patient.

    Science.gov (United States)

    Finch, Christopher K; Eason, James; Usery, Justin B

    2010-09-01

    A 41-year-old male with a previous orthotopic liver transplant began experiencing insomnia, anxiety, diaphoresis, headaches, and palpitations that progressed over a 2-day period. As part of his home medication regimen, the patient was taking gabapentin for peripheral neuropathy. His acute onset of increasing symptoms coincided with an inadvertent discontinuation of gabapentin. After reinitiation of gabapentin therapy, the symptoms slowly improved over the next 24 hours and the episode of gabapentin withdrawal syndrome resolved.

  8. Oral implant rehabilitation in a patient with Moebius syndrome

    OpenAIRE

    Escoda Francolí, Jaume; Sánchez Garcés, Ma. Ángeles; Gay Escoda, Cosme

    2009-01-01

    Introduction: Moebius syndrome is a rare congenital disorder characterized by unilateral or bilateral involvement of the sixth and seventh cranial nerves, resulting in a lack of facial expression and eye movements. These patients suffer a series of oral manifestations that may complicate their dental treatment, such as facial and tongue muscle weakness, uncontrolled salivation secondary to defi cient lip sealing, micrognathia, microstomia, bifi d uvula, gothic and fi ssured palate, fi ssured ...

  9. Macrosomia, obesity, macrocephaly and ocular abnormalities (MOMO syndrome) in two unrelated patients: delineation of a newly recognized overgrowth syndrome.

    Science.gov (United States)

    Moretti-Ferreira, D; Koiffmann, C P; Listik, M; Setian, N; Wajntal, A

    1993-06-15

    We describe 2 unrelated patients, a boy and a girl, with an overgrowth syndrome and the following common characteristics: macrocrania, obesity, ocular abnormalities (retinal coloboma and nystagmus), downward slant of palpebral fissures, mental retardation, and delayed bone maturation. Both cases are of sporadic occurrence with no consanguinity between the parents. We suggest that this syndrome is due to a new autosomal dominant mutation and propose to designate it with the acronym of "MOMO syndrome" (Macrosomia, Obesity, Macrocrania, Ocular anomalities.

  10. Clobazam : in patients with Lennox-Gastaut syndrome.

    Science.gov (United States)

    Yang, Lily P H; Scott, Lesley J

    2012-11-01

    Clobazam, as with other benzodiazepines, has a long history of use in the treatment of epilepsy. More recently, it was approved in the USA as adjunctive therapy for the treatment of seizures associated with Lennox-Gastaut syndrome in patients aged ≥2 years. In the pivotal, placebo-controlled CONTAIN trial in paediatric and adult patients with Lennox-Gastaut syndrome (n = 217 evaluable), adjunctive therapy with clobazam 5-40 mg/day for 12 weeks significantly reduced mean weekly drop seizure rates from baseline compared with adjunctive placebo (primary endpoint), with a significant dosage-dependent improvement in these rates. Results from a dosage-ranging, double-blind, multi-centre, phase II trial add further support for the efficacy of clobazam in paediatric and adult patients with Lennox-Gastaut syndrome (n = 61 evaluable). Improvements in mean weekly drop seizure rates with adjunctive clobazam treatment in these short-term trials was maintained in an ongoing, open-label extension study, with a 91.6 % reduction in mean weekly drop seizure rates from baseline (at randomization in the initial trials) to 24 months in the overall population. Treatment with adjunctive clobazam was generally well tolerated in these clinical trials and after at least 2 years of treatment in an open-label extension study. Most adverse events were mild or moderate and similar to those typically observed with other benzodiazepines.

  11. Subcutaneous histiocytoid Sweet's syndrome in a patient with myelodysplastic syndrome and acute myeloblastic leukemia.

    Science.gov (United States)

    Srisuttiyakorn, Chutika; Reeve, Jennifer; Reddy, Swapna; Imaeda, Suguru; Lazova, Rossitza

    2014-05-01

    Subcutaneous histiocytoid Sweet’s syndrome is a rare variant of histiocytoid Sweet’s syndrome (SS). We present a 68-year-old woman with subcutaneous histiocytoid SS in association with refractory myelodysplastic syndrome transformed to acute myeloblastic leukemia (AML), status post induction chemotherapy and with persistent blasts (50%) in the bone marrow and blood, accompanied with neutropenia. The patient presented to the emergency room with fever and altered mental status. Clinical examination revealed approximately 20 scattered 0.5-2 cm, pink to pink-purple non-tender firm nodules on the legs and left arm. The differential diagnosis included Sweet’s syndrome (deep), leukemia cutis, infection, polyarteritis nodosa and erythema nodosum. Histopathologic examination of a biopsy from the left arm revealed a nodular infiltrate of neutrophils and histiocytoid mononuclear cells solely in the lobular compartment of the subcutaneous fat with focal areas of necrosis. Most cells in the infiltrate labeled with myeloperoxidase (MPO) including the histiocytoid cells. The cells were negative for CD34 and CD117. All special stains for microorganisms were negative. A diagnosis of subcutaneous histiocytoid SS was made. A subcutaneous histiocytoid SS should be suspected when a neutrophilic/histiocytoid panniculitis, occurring in the setting of myeloid disorders, is encountered and after exclusion of an infectious process and leukemia cutis.

  12. Hyperinsulinism and hyperammonemia syndrome: report of twelve unrelated patients.

    Science.gov (United States)

    De Lonlay, P; Benelli, C; Fouque, F; Ganguly, A; Aral, B; Dionisi-Vici, C; Touati, G; Heinrichs, C; Rabier, D; Kamoun, P; Robert, J J; Stanley, C; Saudubray, J M

    2001-09-01

    Hyperinsulinism and hyperammonemia syndrome has been reported as a cause of moderately severe hyperinsulinism with diffuse involvement of the pancreas. The disorder is caused by gain of function mutations in the GLUD1 gene, resulting in a decreased inhibitory effect of guanosine triphosphate on the glutamate dehydrogenase (GDH) enzyme. Twelve unrelated patients (six males, six females) with hyperinsulinism and hyperammonemia syndrome have been investigated. The phenotypes were clinically heterogeneous, with neonatal and infancy-onset hypoglycemia and variable responsiveness to medical (diazoxide) and dietary (leucine-restricted diet) treatment. Hyperammonemia (90-200 micromol/L, normal carbamylglutamate administration. The patients had mean basal GDH activity (18.3 +/- 0.9 nmol/min/mg protein) not different from controls (17.9 +/- 1.8 nmol/min/mg protein) in cultured lymphoblasts. The sensitivity of GDH activity to inhibition by guanosine triphosphate was reduced in all patient lymphoblast cultures (IC(50), or concentrations required for 50% inhibition of GDH activity, ranging from 140 to 580 nM, compared with control IC(50) value of 83 +/- 1.0 nmol/L). The allosteric effect of ADP was within the normal range. The activating effect of leucine on GDH activity varied among the patients, with a significant decrease of sensitivity that was correlated with the negative clinical response to a leucine-restricted diet in plasma glucose levels in four patients. Molecular studies were performed in 11 patients. Heterozygous mutations were localized in the antenna region (four patients in exon 11, two patients in exon 12) as well as in the guanosine triphosphate binding site (two patients in exon 6, two patients in exon 7) of the GLUD1 gene. No mutation has been found in one patient after sequencing the exons 5-13 of the gene.

  13. [Attachment Representation and Emotion Regulation in Patients with Burnout Syndrome].

    Science.gov (United States)

    Söllner, Wolfgang; Behringer, Johanna; Böhme, Stephanie; Stein, Barbara; Reiner, Iris; Spangler, Gottfried

    2016-06-01

    Burnout describes a syndrome of exhaustion resulting from insufficient coping with work-related distress. We investigated if patients that are being clinically treated for burnout show insecure and unresolved attachment representation more often compared with healthy controls. 50 out of 60 consecutive burnout patients participated in the study. Mental representation of attachment was measured by using the Adult Attachment Interview. Additionally, we administered the Self Report Questionnaire to Assess Emotional Experience and Emotion Regulation and several burnout specific questionnaires. A population sample was used as control group. Burnout patients were classified as insecurely attached significantly more often than controls. Unresolved attachment status concerning loss or trauma was found significantly more often within the burnout sample. Patients with insecure attachment representation reported a lower subjective significance of work. Patients with avoidant insecure attachment showed more depersonalisation. Patients with unresolved loss/trauma reported less social support. They showed more passive-negative emotion experience and emotion regulation characterized by externalization. The results of the study suggest that an insecure or unresolved attachment representation might constitute an intrapersonal risk factor for the development of burnout syndrome. © Georg Thieme Verlag KG Stuttgart · New York.

  14. 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.

  15. Metabolic disturbances in patients with obstructive sleep apnoea syndrome

    Directory of Open Access Journals (Sweden)

    I. A. Harsch

    2007-12-01

    Full Text Available The metabolic disturbances in patients with obstructive sleep apnoea syndrome (OSAS include insulin resistance and elevated levels of pro-inflammatory cytokines and vascular adhesion molecules, as well as an elevation of hormones derived from the adipose tissue as leptin. These phenomena might, in part, be an explanation for the excess morbidity and mortality of OSAS patients concerning cardiovascular disease. Several of these factors have been described as being independently associated with OSAS and not only related to its comorbidities, including obesity. A promising approach to studying the metabolic phenomena in these OSAS patients would be to monitor patients before and during the course of continuous positive airway pressure therapy, as nocturnal sleep disturbances are treatable and may revert the impact of OSAS on the metabolic phenomena; however, patients do frequently (and unfortunately maintain their body weight. Although not confirmed by all investigations, a tendency towards an improvement in some of the above-mentioned metabolic parameters has been reported in several studies in obstructive sleep apnoea syndrome patients and may be reflected by the decreased occurrence of new cardiovascular events, the reduction of systolic blood pressure and the improvement of left ventricular systolic function.

  16. Assessment of Smell Function in Syndromic Craniosynostosis Patients.

    Science.gov (United States)

    Vaughan, Casey; Attlmayr, Bernhard; Dalton, Lucy; Upile, Navdeep; Xie, Carol; De, Su

    2016-09-01

    Craniosynostosis is defined as premature fusion of the cranial suture lines and is part of a syndrome in 15% to 40% of the patients. There is limited literature available regarding these children's ability to smell. Most of them will undergo numerous surgical procedures, some of which may alter their sense of smell, potentially leading to significant social as well as safety implications. Ethical approval was obtained for this pilot study. Children with syndromic craniosynostosis were recruited and underwent anterior rhinoscopy, prior to performing a smell test utilizing the Sensonic pediatric Smell wheel. The results were compared to an age-matched control group. Eight children with syndromic craniosynostosis participated in the study. Of a possible total score of 11, their mean average score was 6.6 and the median was 6. In comparison, the mean average score for the control group was 7.5 and the median was 7. Although the study group was small, this pilot study demonstrates that children with syndromic craniosynostosis have a similar ability to identify smells to an age-matched cohort. Further research can now be undertaken to see whether or not midface advancement procedures affect these children's sense of smell.

  17. Anesthesia in a patient with Stiff Person Syndrome.

    Science.gov (United States)

    Yagan, Ozgur; Özyilmaz, Kadir; Özmaden, Ahmet; Sayin, Özgür; Hanci, Volkan

    2016-01-01

    Stiff Person Syndrome (SPS), typified by rigidity in muscles of the torso and extremities and painful episodic spasms, is a rare autoimmune-based neurological disease. Here we present the successful endotracheal intubation and application of TIVA without muscle relaxants on an SPS patient. A 46 years old male patient was operated with ASA-II physical status because of lumber vertebral compression fracture. After induction of anesthesia using lidocaine, propofol and remifentanil tracheal intubation was completed easily without neuromuscular blockage. Anesthesia was maintained with propofol, remifentanil and O2/air mixture. After a problem-free intraoperative period the patient was extubated and seven days later was discharged walking with aid. Though the mechanism is not clear neuromuscular blockers and volatile anesthetics may cause prolonged hypotonia in patients with SPS. We think the TIVA technique, a general anesthetic practice which does not require neuromuscular blockage, is suitable for these patients.

  18. Restless legs syndrome: an underappreciated and distressing problem for haemodialysis patients.

    Science.gov (United States)

    Chu, L; Chu, E; Dogra, G; Chakera, A

    2014-10-01

    Restless legs syndrome is a distressing condition that is more common in patients with end-stage renal failure. Despite the significant impact it has on quality of life and the documented association between restless legs syndrome and increased mortality, limited data regarding the epidemiology of restless legs syndrome in Australian dialysis patients are available. We report a prospective study that assessed the prevalence and factors associated with restless legs syndrome in an in-centre haemodialysis population.

  19. Somatosensory evaluation in Dysfunctional Syndrome patients.

    Science.gov (United States)

    Hilgenberg-Sydney, P B; Kowacs, P A; Conti, P C R

    2016-02-01

    Many chronic pain patients are refractory to treatment, which leads to the suspicion that somehow they are not fully effective and probably some mechanism of pain generation and/or maintenance is still unknown. The aim of this cross-sectional study was to provide evidence-based data on pain mechanisms in different types of chronic pain conditions. Eighty women, with 18-65 years old, were included, divided into four groups: myofascial pain of the masticatory muscles (n = 20), fibromyalgia (n = 20), chronic daily headache and healthy volunteers (n = 20). All patients were submitted to quantitative sensory tests: pressure pain threshold, mechanical detection threshold, mechanical pain threshold, ischaemic pain tolerance, cold pain sensitivity, aftersensation, wind-up ratio and conditioned pain modulation. Current perception threshold was also determined (Neurometer CPT/C - Neurotron). Three different zones were evaluated: trigeminal (masseter muscle), cervical and extratrigeminal (thenar eminence). Data were recorded and subjected to statistical analysis (anova, Tukey and Student's t-tests). Masticatory myofascial pain, fibromyalgia and chronic daily headache individuals presented lower pressure pain thresholds than healthy volunteers (P = 0.00). Chronic daily headache individuals had a significantly higher mechanical detection threshold than healthy volunteers (P = 0.01). Individuals of the symptomatic groups showed lower values for mechanical pain threshold and for ischaemic pain tolerance (P = 0.00) than healthy volunteers. The ability to activate the mechanism of endogenous modulation is impaired in women with fibromyalgia and myofascial pain (P = 0.00). These results reinforce evidence of central sensitisation and impaired endogenous modulation system in individuals with myofascial pain, fibromyalgia and chronic daily headache.

  20. Heart rate recovery in patients with obstructive sleep apnea syndrome

    OpenAIRE

    KARAŞEN, Rıza Murat; ÇİFTÇİ, Bülent; Baran ACAR; YALÇIN, Ahmet Arif; GÜVEN, Selma FIRAT

    2012-01-01

    To demonstrate the effects of obstructive sleep apnea syndrome (OSAS) on baroregulatory function by using heart rate recovery (HRR) parameters. Materials and methods: Fifty-four moderate and severe OSAS patients were included in the study. HRR was defined as the difference in heart rate between peak exercise and 1 min later; a value of 18 beats/min was considered abnormal. OSAS patients were enrolled in the study as group 1 (normal HRR; n = 12) and group 2 (abnormal HRR, n = 42). Left ventr...

  1. Adrenal venous sampling in a patient with adrenal Cushing syndrome.

    Science.gov (United States)

    Builes-Montaño, Carlos Esteban; Villa-Franco, Carlos Andrés; Román-Gonzalez, Alejandro; Velez-Hoyos, Alejandro; Echeverri-Isaza, Santiago

    2015-01-01

    The primary bilateral macronodular adrenal hyperplasia or the independent adrenocorticotropic hormone bilateral nodular adrenal hyperplasia is a rare cause hypercortisolism, its diagnosis is challenging and there is no clear way to decide the best therapeutic approach. Adrenal venous sampling is commonly used to distinguish the source of hormonal production in patients with primary hyperaldosteronism. It could be a useful tool in this context because it might provide information to guide the treatment. We report the case of a patient with ACTH independent Cushing syndrome in whom the use of adrenal venous sampling with some modifications radically modified the treatment and allowed the diagnosis of a macronodular adrenal hyperplasia.

  2. Trypanosoma cruzi meningoencephalitis in a patient with acquired immunodeficiency syndrome.

    Science.gov (United States)

    Yasukawa, Kosuke; Patel, Shital M; Flash, Charlene A; Stager, Charles E; Goodman, Jerry C; Woc-Colburn, Laila

    2014-07-01

    As a result of global migration, a significant number of people with Trypanosoma cruzi infection now live in the United States, Canada, many countries in Europe, and other non-endemic countries. Trypanosoma cruzi meningoencephalitis is a rare cause of ring-enhancing lesions in patients with acquired immunodeficiency syndrome (AIDS) that can closely mimic central nervous system (CNS) toxoplasmosis. We report a case of CNS Chagas reactivation in an AIDS patient successfully treated with benznidazole and antiretroviral therapy in the United States. © The American Society of Tropical Medicine and Hygiene.

  3. Heart rate recovery in patients with obstructive sleep apnea syndrome

    OpenAIRE

    KARAŞEN, Rıza Murat; ÇİFTÇİ, Bülent; Acar,Baran; YALÇIN, Ahmet Arif; GÜVEN, Selma FIRAT

    2014-01-01

    To demonstrate the effects of obstructive sleep apnea syndrome (OSAS) on baroregulatory function by using heart rate recovery (HRR) parameters. Materials and methods: Fifty-four moderate and severe OSAS patients were included in the study. HRR was defined as the difference in heart rate between peak exercise and 1 min later; a value of 18 beats/min was considered abnormal. OSAS patients were enrolled in the study as group 1 (normal HRR; n = 12) and group 2 (abnormal HRR, n = 42). Left ventr...

  4. [Improved treatment options for a short bowel syndrome patient].

    Science.gov (United States)

    Pakarinen, Mikko

    2014-01-01

    Short bowel syndrome necessitates long-term parenteral nutrition, which exposes to decreased quality of life and increased morbidity. In recent years the understanding of short bowel pathophysiology and related complications has expanded, forming the basis for improved treatment options. In addition to evolving nutritional therapy, new pharmacological and surgical therapies have emerged, enhancing the patients' possibilities to achieve intestinal autonomy. Increasingly efficient prevention of intestinal failure-associated liver disease and central line-associated septic episodes improves patient survival. Bowel function can be restored by intestinal transplantation in those developing life-threatening complications.

  5. The anesthetic management in the patient with Kabuki makeup syndrome

    Directory of Open Access Journals (Sweden)

    İsmail Aydın Erden

    2013-03-01

    Full Text Available Kabuki makeup syndrome is characterized by mentalretardation, characteristic facial appearance (ektropion,skeletal abnormalities, joint laxity, short stature. The syndromeis thought to be a consequence of otosomal dominantmutation. Important factors in anesthetical managementof these patients include; difficult airway, cardiologicproblems, obstructive sleeps apne, hypotoni and malignshyperthermia risks. In this case report we aimed to discussanesthesic management of a patient with Kabukisyndrome -a rare clinical entity in our country- . J Clin ExpInvest 2013; 4 (1: 116-118Key words: kabuki makeup, tympanoplasty, general anesthesia

  6. Digestive system manifestations in patients with severe acute respiratory syndrome

    Institute of Scientific and Technical Information of China (English)

    詹俊; 陈为宪; 李楚强; 伍卫; 李建军; 江山平; 王景峰; 曾志勇; 黄子通; 黄洪章

    2003-01-01

    Objective To explore digestive system manifestations in patients with severe acute respiratory syndrome (SARS).Method The clinical data of 96 cases with SARS admitted into our hospital from February 6, 2003 to March 28, 2003 were retrospectively analyzed.Results Among the 96 cases, 26 cases (27%) had diarrhea, 17 (18%) had nausea, 6 (6%) had vomiting, 16 (17%) had bellyache, and 8 (8%) had ALT elevation.Conclusions Patients with SARS may have digestive system manifestations; diarrhea is the most common symptom.

  7. Hair alteration in black patients with the acquired immunodeficiency syndrome.

    Science.gov (United States)

    Leonidas, J R

    1987-06-01

    Four black men with the acquired immunodeficiency syndrome (AIDS) demonstrated profound alterations in hair patterns two to three years after their first symptoms appeared. The hair became longer, lighter, softer, and silky, and it was occasionally discolored. One patient was thought to be of Indian extraction. These changes may not be as apparent in nonblack persons. Possible explanations are a retrogression of hair pattern to an earlier stage of growth, a phenomenon reminiscent of, but not similar to, malnutrition trichosis, or a combination of both. Closer attention should be paid to the hair of AIDS patients. Histologic and chemical analysis may be appropriate.

  8. Reproductive System Outcome Among Patients with Polycystic Ovarian Syndrome.

    Science.gov (United States)

    Carmina, Enrico

    2015-12-01

    Polycystic ovarian syndrome (PCOS) may present with different clinical patterns and the anovulatory phenotype may not be the most common. Data suggest that anovulation in PCOS is not the consequence of increased androgen ovarian secretion but rather of a severe derangement of early follicle development. Other mechanisms may be operative in subgroups of patients and may contribute to the arrest of follicle growth and anovulation. At least 50% of anovulatory patients with PCOS become ovulatory in their late reproductive age. There is also evidence that menopause may occur later in women with PCOS. Finally, a strategy for treatment of infertility in PCOS is presented.

  9. On a periodic two-component Hunter-Saxton equation

    CERN Document Server

    Kohlmann, Martin

    2011-01-01

    We determine the solution of the geodesic equation associated with a periodic two-component Hunter-Saxton system on a semidirect product obtained from the diffeomorphism group of the circle, modulo rigid rotations, and a space of scalar functions. In particular, we compute the time of breakdown of the geodesic flow. As a further goal, we establish a local well-posedness result for the two-component Hunter-Saxton system in the smooth category. The paper gets in line with some recent results for the generalized Hunter-Saxton equation provided by Escher, Wu and Wunsch in [J. Escher, Preprint 2010] and [H. Wu, M. Wunsch, arXiv:1009.1688v1 [math.AP

  10. High prevalence of the metabolic syndrome in HIV-infected patients: impact of different definitions of the metabolic syndrome

    DEFF Research Database (Denmark)

    Worm, Signe H.Westring; Friis-Møller, Nina; Bruyand, Mathias

    2010-01-01

    This study describes the characteristics of the metabolic syndrome in HIV-positive patients in the Data Collection on Adverse Events of Anti-HIV Drugs study and discusses the impact of different methodological approaches on estimates of the prevalence of metabolic syndrome over time....

  11. High prevalence of the metabolic syndrome in HIV-infected patients: impact of different definitions of the metabolic syndrome.

    NARCIS (Netherlands)

    Worm, S.W.; Friis-Moller, N.; Bruyand, M.; d'Arminio Monforte, A.; Rickenbach, M.; Reiss, P.; El-Sadr, W.; Phillips, A.; Lundgren, J.; Sabin, C.; Gyssens, I.C.J.

    2010-01-01

    INTRODUCTION: This study describes the characteristics of the metabolic syndrome in HIV-positive patients in the Data Collection on Adverse Events of Anti-HIV Drugs study and discusses the impact of different methodological approaches on estimates of the prevalence of metabolic syndrome over time.

  12. High prevalence of the metabolic syndrome in HIV-infected patients : impact of different definitions of the metabolic syndrome

    NARCIS (Netherlands)

    Worm, Signe W; Friis-Møller, Nina; Bruyand, Mathias; D'Arminio Monforte, Antonella; Rickenbach, Martin; Reiss, Peter; El-Sadr, Wafaa; Phillips, Andrew; Lundgren, Jens; Sabin, Caroline; Schölvinck, Elisabeth H.

    2010-01-01

    INTRODUCTION: This study describes the characteristics of the metabolic syndrome in HIV-positive patients in the Data Collection on Adverse Events of Anti-HIV Drugs study and discusses the impact of different methodological approaches on estimates of the prevalence of metabolic syndrome over time.

  13. High prevalence of the metabolic syndrome in HIV-infected patients: impact of different definitions of the metabolic syndrome

    NARCIS (Netherlands)

    S.W. Worm; N. Friis-Møller; M. Bruyand; A. d'Arminio Monforte; M. Rickenbach; P. Reiss; W. El-Sadr; A. Phillips; J. Lundgren; C. Sabin

    2010-01-01

    INTRODUCTION: This study describes the characteristics of the metabolic syndrome in HIV-positive patients in the Data Collection on Adverse Events of Anti-HIV Drugs study and discusses the impact of different methodological approaches on estimates of the prevalence of metabolic syndrome over time. M

  14. High prevalence of the metabolic syndrome in HIV-infected patients : impact of different definitions of the metabolic syndrome

    NARCIS (Netherlands)

    Worm, Signe W; Friis-Møller, Nina; Bruyand, Mathias; D'Arminio Monforte, Antonella; Rickenbach, Martin; Reiss, Peter; El-Sadr, Wafaa; Phillips, Andrew; Lundgren, Jens; Sabin, Caroline; Schölvinck, Elisabeth H.

    2010-01-01

    INTRODUCTION: This study describes the characteristics of the metabolic syndrome in HIV-positive patients in the Data Collection on Adverse Events of Anti-HIV Drugs study and discusses the impact of different methodological approaches on estimates of the prevalence of metabolic syndrome over time. M

  15. High prevalence of the metabolic syndrome in HIV-infected patients: impact of different definitions of the metabolic syndrome.

    NARCIS (Netherlands)

    Worm, S.W.; Friis-Moller, N.; Bruyand, M.; d'Arminio Monforte, A.; Rickenbach, M.; Reiss, P.; El-Sadr, W.; Phillips, A.; Lundgren, J.; Sabin, C.; Gyssens, I.C.J.

    2010-01-01

    INTRODUCTION: This study describes the characteristics of the metabolic syndrome in HIV-positive patients in the Data Collection on Adverse Events of Anti-HIV Drugs study and discusses the impact of different methodological approaches on estimates of the prevalence of metabolic syndrome over time. M

  16. High prevalence of the metabolic syndrome in HIV-infected patients: impact of different definitions of the metabolic syndrome.

    NARCIS (Netherlands)

    Worm, S.W.; Friis-Moller, N.; Bruyand, M.; d'Arminio Monforte, A.; Rickenbach, M.; Reiss, P.; El-Sadr, W.; Phillips, A.; Lundgren, J.; Sabin, C.; Gyssens, I.C.J.

    2010-01-01

    INTRODUCTION: This study describes the characteristics of the metabolic syndrome in HIV-positive patients in the Data Collection on Adverse Events of Anti-HIV Drugs study and discusses the impact of different methodological approaches on estimates of the prevalence of metabolic syndrome over time. M

  17. High prevalence of the metabolic syndrome in HIV-infected patients : impact of different definitions of the metabolic syndrome

    NARCIS (Netherlands)

    Worm, Signe W; Friis-Møller, Nina; Bruyand, Mathias; D'Arminio Monforte, Antonella; Rickenbach, Martin; Reiss, Peter; El-Sadr, Wafaa; Phillips, Andrew; Lundgren, Jens; Sabin, Caroline; Schölvinck, Elisabeth H.

    2010-01-01

    INTRODUCTION: This study describes the characteristics of the metabolic syndrome in HIV-positive patients in the Data Collection on Adverse Events of Anti-HIV Drugs study and discusses the impact of different methodological approaches on estimates of the prevalence of metabolic syndrome over time. M

  18. Evaluation of the temporal bone malformations by HRCT in 17 patients with Treacher Collins Syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Chihara, Yasuhiro [Kanto Medical Center NTT EC, Tokyo (Japan); Takegoshi, Hideki [Saitama Medical School, Moroyama (Japan); Kaga, Kimitaka [Tokyo Univ. (Japan). Faculty of Medicine

    2003-05-01

    Patients with Treacher Collins Syndrome have severe middle ear malformations. We have studied high-resolution computed tomography (HRCT) of seventeen patients with Treacher Collins Syndrome by using Jahrsdoerfer's grading system. Four patients underwent canalplasty. The appearance of the auricle (which we evaluated by using Marx's grading system) was correlated with the development of the middle ear in patients with Treacher Collins Syndrome. The four cases who underwent canalplasty were using a canal type hearing aid. (author)

  19. [Laugier-Hunziker syndrome in a patient with Sjögren’s syndrome: Report of one case].

    Science.gov (United States)

    Fajre, Ximena; Aspillaga, María; McNab, María; Navarrete, Jorge; Sanhueza, Verónica; Benedetto, Juana

    2016-05-01

    Laugier-Hunziker syndrome is a rare benign idiopathic condition characterized by acquired macular pigmentation of lips and buccal mucosa, often accompanied with melanonychia. The main concern with this condition is to rule out other differential diagnosis with systemic repercussions and similar hyperpigmentation patterns, such as Peutz-Jeghers syndrome, adrenal insufficiency and melanoma. We report a 58-year-old female with a 20-year history of Sjögren’s syndrome, presenting with melanonychia and hyperpigmentation in the buccal mucosa. She had no relevant medication history and is a non-smoker. The patient denied any other symptoms. The histopathology confirmed the diagnosis of Laugier-Hunziker syndrome.

  20. Digital and Dental Malformation and Short Stature in a Patient with Neurological Problems: A Variant of the Oculodentodigital Dysplasia Syndrome or a New Syndrome?

    OpenAIRE

    Shakiba, Marjan; Habibe NEZHAD BIEGLARI; Mohammad Reza ALAEE

    2012-01-01

    How to cite this article: Shakiba M, Nejad Biglari H, Alaee MR. Digital and Dental Malformation and Short Stature in a Patient with Neurological Problems: A Variant of the Oculodentodigital Dysplasia Syndrome or a New Syndrome?Iran J Child Neurol Autumn 2012; 6(4): 51-54.  Abstract Several syndromes have been recognized with digital abnormality and CNS involvement such as oculodentodigital dysplasia (ODDD), Mohr syndrome and Joubert syndrome. We report a patient who was referred to us becaus...

  1. Moebius syndrome: clinical manifestations in a pediatric patient.

    Science.gov (United States)

    Lima, Luciana Monti; Diniz, Michele Baffi; dos Santos-Pinto, Lourdes

    2009-01-01

    Moebius syndrome is a congenital, nonprogressive disorder clinically characterized by loss of facial expression, impaired stomatognathic system functions, incapacity to close the eyelids, and several oral impairments. The purpose of this paper was to present the clinical manifestations and the dental treatment in a 5-year, 2-month-old male Moebius syndrome patient. The child presented with facial asymmetry, difficulty performing facial mimic movements and pronouncing some letters, and compromised suction, mastication, breathing, and deglutition. An intraoral examination revealed hypofunction of the perioral muscles, cheeks and tongue, ankyloglossia, anterior open bite, and absence of carious lesions and dental anomalies. The dental treatment consisted of frenectomy and further placement of a removable orthodontic appliance with a palatal crib for correction of the anterior open bite. After 12 months of follow-up, anterior open bite decreased and speech, deglutition, and mastication improved.

  2. Treatment strategies for the infertile polycystic ovary syndrome patient.

    Science.gov (United States)

    Tannus, Samer; Burke, Yechiel Z; Kol, Shahar

    2015-11-01

    Polycystic ovary syndrome (PCOS) is the most common endocrine disorder in women of reproductive age. Infertility is a prevalent presenting feature of PCOS, and approximately 75% of these women suffer infertility due to anovulation. Lifestyle modification is considered the first-line treatment and is associated with improved endocrine profile. Clomiphene citrate (CC) should be considered as the first line pharmacologic therapy for ovulation induction. In women who are CC resistant, second-line treatment should be considered, as adding metformin, laparoscopic ovarian drilling or treatment with gonadotropins. In CC treatment failure, Letrozole could be an alternative or treatment with gonadotropins. IVF is considered the third-line treatment; the 'short', antagonist-based protocol is the preferred option for PCOS patients, as it is associated with lower risk of developing ovarian hyperstimulation syndrome (specifically by using a gonadotropin--releasing hormone agonist as ovulation trigger), but with comparable outcomes as the long protocol.

  3. Impaired olfactory function in patients with polycystic ovary syndrome.

    Science.gov (United States)

    Koseoglu, Sezen Bozkurt; Koseoglu, Sabri; Deveer, Ruya; Derin, Serhan; Kececioglu, Mehmet; Sahan, Murat

    2016-06-01

    Polycystic ovary syndrome (PCOS) is an endocrine disorder which affects 6.6% of women of child-bearing age. Although olfactory dysfunction is frequent in the population and it negatively affects quality of life, neither physicians or patients consider this important. This case-control study included 30 patients diagnosed with PCOS, and 25 healthy age-matched controls. Sniffin' sticks tests (BurghartGmbH, Wedel, Germany) were used to analyze olfactory functions, and the Beck Depression Inventory was used to evaluate depressive symptoms. The total odor score was significantly lower in the PCOS group compared to the control group (pdepression score was higher in the PCOS group (pDepression Score. Patients with PCOS have impaired olfactory function. This might be related to depressive disorders that are also observed in those patients.

  4. Patellofemoral morphometry in patients with idiopathic patellofemoral pain syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Mar Carrion Martin, Maria del [Department of Rehabilitation, Hospital of Traumatology (Ciudad Sanitaria Virgen de las Nieves), Carretera de Jaen SN, 18014 Granada (Spain); Ruiz Santiago, Fernando, E-mail: ferruizsan@terra.e [Department of Radiology, Hospital of Traumatology (Ciudad Sanitaria Virgen de las Nieves), Carretera de Jaen SN, 18014 Granada (Spain); Pozuelo Calvo, Rocio [Department of Rehabilitation, Hospital of Traumatology (Ciudad Sanitaria Virgen de las Nieves), Carretera de Jaen SN, 18014 Granada (Spain); Guzman Alvarez, Luis [Department of Radiology, Hospital of Traumatology (Ciudad Sanitaria Virgen de las Nieves), Carretera de Jaen SN, 18014 Granada (Spain)

    2010-07-15

    Purpose: To compare clinical and computed tomography (CT) measures in extension, 20{sup o} and 30{sup o} of flexion of symptomatic knees of patient with idiopathic patellofemoral pain syndrome with the contra lateral asymptomatic knee. Materials and methods: Knees of 52 consecutive patients with idiopathic patellofemoral pain were studied with CT. In 28 patients this condition was unilateral and asymptomatic knee was used as control; 76 knees were symptomatic. Results: In patients with idiopathic patellofemoral pain we found a greater Q angle and internal condylar facet width in symptomatic knees with regard to asymptomatic knees. Conclusion: Greater Q angle and medial condylar facet can lead to overpressure on the medial knee compartment during maneuvers that increase contact between patella and medial condylar facet, such as knee flexion and squatting, contributing to development of idiopathic patellofemoral pain.

  5. Voriconazole-induced periostitis in a patient with overlap syndromes.

    Science.gov (United States)

    Hirota, Keisho; Yasoda, Akihiro; Fujii, Toshihito; Inagaki, Nobuya

    2014-03-05

    A 52-year-old woman with overlap syndrome and interstitial pneumonia underwent immunosuppressive therapy and she was suspected to suffer from pulmonary aspergillosis. Oral voriconazole was initiated, and a rapid elevation of alkaline phosphatase (ALP) occurred after 4 weeks. After 2 months, the patient presented diffuse pain in bilateral skeletal regions, and bone scintigraphy revealed bilateral multiple areas of increased radiotracer uptake. We suspected the skeletal involvement as voriconazole-induced periostitis. Actually, the plasma fluoride level was increased. Voriconazole was replaced with itraconazole, and after 3 weeks, the patient stopped complaining of bone pain concomitant with the decrease in ALP. Voriconazole-induced periostitis is a rare condition but had previously been reported in solid organ or patients with bone marrow transplant who received a long-term voriconazole therapy. Our present case is distinctive of previous ones, because it occurred in a patient with connective tissue disease which had its rapid progression.

  6. The Impact of Hypertension on Patients with Acute Coronary Syndromes

    Directory of Open Access Journals (Sweden)

    Claudio Picariello

    2011-01-01

    Full Text Available Arterial chronic hypertension (HTN is a well-known cardiovascular risk factor for development of atherosclerosis. In order to explain the relation between HTN and acute coronary syndromes the following factors should be considered: (1 risk factors are shared by the diseases, such as genetic risk, insulin resistance, sympathetic hyperactivity, and vasoactive substances (i.e., angiotensin II; (2 hypertension is associated with the development of atherosclerosis (which in turn contributes to progression of myocardial infarction. From all the registries and the data available up to now, hypertensive patients with ACS are more likely to be older, female, of nonwhite ethnicity, and having a higher prevalence of comorbidities. Data on the prognostic role of a preexisting hypertensive state in ACS patients are so far contrasting. The aim of the present paper is to focus on hypertensive patients with ACS, in order to better elucidate whether these patients are at higher risk and deserve a tailored approach for management and followup.

  7. Gestational, perinatal and family findings of patients with Patau syndrome

    Science.gov (United States)

    Rosa, Rafael Fabiano M.; Sarmento, Melina Vaz; Polli, Janaina Borges; Groff, Daniela de Paoli; Petry, Patrícia; de Mattos, Vinícius Freitas; Rosa, Rosana Cardoso M.; Trevisan, Patrícia; Zen, Paulo Ricardo G.

    2013-01-01

    OBJECTIVE: To describe gestational, perinatal and family findings of patients with Patau syndrome (PS). METHODS: The study enrolled patients with PS consecutively evaluated during 38 years in a Clinical Genetics Service of a pediatric referral hospital in Southern Brazil. The clinical data and the results of cytogenetic analysis were collected from the medical records. For statistical analysis, the two-tailed Fisher's exact test and the chi-square test with Yates' correction were used, being significant pApgar scores <7 in the 1st (75%) and in the 5th minute (42.9%). About half of them (53%) died during the first month of life. CONCLUSIONS: The understanding of the PS patients' gestational, perinatal and family findings has important implications, especially on the decision about the actions to be taken in relation to the management of these patients. PMID:24473950

  8. The Use of Physiotherapy among Patients with Subacromial Impingement Syndrome

    DEFF Research Database (Denmark)

    Christiansen, David Høyrup; Frost, Poul; Frich, Lars Henrik

    2016-01-01

    BACKGROUND: Physiotherapy with exercises is generally recommended in the treatment of patients with subacromial impingement syndrome (SIS). OBJECTIVE: We aimed to investigate the use of physiotherapy in patients with SIS in Danish hospital settings as part of initial non-surgical treatment...... and after SIS-related surgery and to evaluate to which extent sex, socio-demographic and clinical factors predict the use of physiotherapy. METHODS: Using national health registers, we identified 57,311 patients who had a first hospital contact with a diagnosis of ICD-10, groups M75.1-75.9, 1 July 2007...... to 30 June 2011. Records of physiotherapy were extracted within 52 weeks after first contact (or until surgery), and for surgically treated patients within 26 weeks after surgery. Predictors of the use of physiotherapy after first contact and after surgery were analysed as time-to-event. RESULTS: Within...

  9. Secondary Sjogren's Syndrome in 83 Patients With Rheumatoid Arthritis

    Directory of Open Access Journals (Sweden)

    Asghar Hajiabbasi

    2016-07-01

    Full Text Available Sjogren syndrome (SS can occur alone, primary Sjogren syndrome, or in association with other rheumatic diseases, secondary Sjogren syndrome (sSS, such as Rheumatoid arthritis (RA. The occurrence of Sjogren syndrome with RA makes it course worse and increases high morbidity and mortality of RA. In this exploratory study we aim to determine the prevalence of sSS (diagnosed based on the revised version of American–European consensus Group Classification Criteria: AUCG-criteria, sicca symptoms (dry eye, dry mouth, positive autoantibody tests (Anti RO or Anti-LA antibodies, UWSFR (Unstimulated Whole Salivary Flow Rate, Schirmer and Lissamine test. In this cross-sectional study, eighty three consecutive RA patients (according to American College of Rheumatology criteria 1987 who were visited at rheumatology clinic of Razi General Hospital located in the north of Iran entered into our study. Our exclusion criteria was a positive history of past head and neck radiation treatment, Hepatitis C infection, acquired immunodeficiency disease (AIDS, pre-existing lymphoma, sarcoidosis, graft versus host disease, use of anticholinergic drugs (including neuroleptics, antidepressants, antihypertensive and parasympatholytics. They examined with UWSFR by a rheumatologist and with Schirmer test and Lissamine test by an ophthalmologist. Participants were 90.4% female with the mean age 48.3±13 years. Duration of RA was in 36.1% less than 5 years, in 22.9% 5-10 years, in 12.1% 11-15 years and in 28.9% more than 15 years. Our results demonstrated that the prevalence of sSS was 5.9% (CI:0.6%-10.5%. Number of 27.7% of RA patients positively responded to at least one question about sicca symptoms. Among objective tests, only Positive UWSFR and Lissamine test were significantly more common in RA patients with sSS in comparison to ones without sSS (P<0.001, P=0.01 respectively. In RA patients, we found a linear trend between sicca symptoms and aging (P=0.02. In patients

  10. Five personality dimensions in patients with irritable bowel syndrome

    Directory of Open Access Journals (Sweden)

    Alireza Farnam

    2008-08-01

    Full Text Available Alireza Farnam, Mohammad H Somi, Firouz Sarami, Sara FarhangLiver and Gastrointestinal Diseases Research Center, Tabriz University of Medical Sciences, Tabriz, IranAim: Irritable bowel syndrome (IBS as a functional disorder of the gastrointestinal tract has been related to psychological factors. Aim of this study is to study the differences of personality factors between IBS patients compared to our general population.Methods: This study was performed in clinics of Tabriz Medical University during 2006–2007. IBS was diagnosed using the Rome II diagnostic criteria after exclusion of organic bowel pathology. The entry of each patient was confirmed following a psychiatric interview and after any comorbid psychiatry disorder was ruled out. Personality traits and score of each factor was evaluated using NEO five factor personality inventory compared to results of a previous study on general population of Iran.Results: One hundred and sixty six patients were studied. The mean age (±SD of them was 33.6(±11.4 years (60.8% female. Our study population had their symptoms for a mean interval of 47.3 month. The bowel problems were provoked by distress in more than 80% of patients. Pain in female patients was reported to be more frequent but both gender described the association between stressors and their symptoms. NEO Five-Factor Inventory showed a significantly higher level of neuroticism and conscientiousness and lower level of openness and agreeableness in theses nonpsychiatric IBS patients. Women with IBS had significantly higher levels of openness, conscientiousness, and extraversion compared to men.Conclusion: Differences were observed between IBS patients and general population. Patients with IBS may benefit from psychological interventions.Keywords: irritable bowel syndrome, personality, five-factor model

  11. Distinctive personality profiles of fibromyalgia and chronic fatigue syndrome patients

    Science.gov (United States)

    Zohar, Ada H.; Zaraya-Blum, Reut; Buskila, Dan

    2016-01-01

    Objective The current study is an innovative exploratory investigation, aiming at identifying differences in personality profiles within Fibromyalgia Syndrome (FMS) and Chronic Fatigue Syndrome (CFS) patients. Method In total, 344 participants (309 female, 35 male) reported suffering from FMS and/or CFS and consented to participate in the study. Participants were recruited at an Israeli FM/CFS patient meeting held in May 2013, and through an announcement posted on several social networks. Participants were asked to complete a research questionnaire, which included FMS criteria and severity scales, and measures of personality, emotional functioning, positivity, social support and subjective assessment of general health. In total, 204 participants completed the research questionnaire (40.7% attrition rate). Results A cluster analysis produced two distinct clusters, which differed significantly on psychological variables, but did not differ on demographic variables or illness severity. As compared to cluster number 2 (N = 107), participants classified into cluster number 1 (N = 97) showed a less adaptive pattern, with higher levels of Harm Avoidance and Alexithymia; higher prevalence of Type D personality; and lower levels of Persistence (PS), Reward dependence (RD), Cooperation, Self-directedness (SD), social support and positivity. Conclusion The significant pattern of results indicates at least two distinct personality profiles of FM and CFS patients. Findings from this research may help improve the evaluation and treatment of FM and CFS patients, based on each patient’s unique needs, psychological resources and weaknesses, as proposed by the current trend of personalized medicine. PMID:27672497

  12. Distinctive personality profiles of fibromyalgia and chronic fatigue syndrome patients

    Directory of Open Access Journals (Sweden)

    Jacob N. Ablin

    2016-09-01

    Full Text Available Objective The current study is an innovative exploratory investigation, aiming at identifying differences in personality profiles within Fibromyalgia Syndrome (FMS and Chronic Fatigue Syndrome (CFS patients. Method In total, 344 participants (309 female, 35 male reported suffering from FMS and/or CFS and consented to participate in the study. Participants were recruited at an Israeli FM/CFS patient meeting held in May 2013, and through an announcement posted on several social networks. Participants were asked to complete a research questionnaire, which included FMS criteria and severity scales, and measures of personality, emotional functioning, positivity, social support and subjective assessment of general health. In total, 204 participants completed the research questionnaire (40.7% attrition rate. Results A cluster analysis produced two distinct clusters, which differed significantly on psychological variables, but did not differ on demographic variables or illness severity. As compared to cluster number 2 (N = 107, participants classified into cluster number 1 (N = 97 showed a less adaptive pattern, with higher levels of Harm Avoidance and Alexithymia; higher prevalence of Type D personality; and lower levels of Persistence (PS, Reward dependence (RD, Cooperation, Self-directedness (SD, social support and positivity. Conclusion The significant pattern of results indicates at least two distinct personality profiles of FM and CFS patients. Findings from this research may help improve the evaluation and treatment of FM and CFS patients, based on each patient’s unique needs, psychological resources and weaknesses, as proposed by the current trend of personalized medicine.

  13. Bilateral Ramsay Hunt syndrome in a diabetic patient

    Directory of Open Access Journals (Sweden)

    Goyal Amit

    2004-12-01

    Full Text Available Abstract Background Herpes zoster oticus accounts for about 10% cases of facial palsy, which is usually unilateral and complete and full recovery occurs in only about 20% of untreated patients. Bilateral herpes zoster oticus can sometime occur in immunocompromised patients, though incidence is very rare. Case presentation Diabetic male, 57 year old presented to us with bilateral facial palsy due to herpes zoster oticus. Patient was having bilateral mild to moderate sensorineural hearing loss. Patient was treated with appropriate metabolic control, anti-inflammatory drugs and intravenous acyclovir. Due to uncontrolled diabetes, glucocorticoids were not used in this patient. Significant improvement in hearing status and facial nerve functions were seen in this patient. Conclusions Herpes zoster causes severe infections in diabetic patients and can be a cause of bilateral facial palsy and bilateral Ramsay Hunt syndrome. Herpes zoster in diabetic patients should be treated with appropriate metabolic control, NSAIDS and intravenous acyclovir, which we feel should be started at the earliest. Glucocorticoids should be avoided in diabetic patients.

  14. Management of patients with Zollinger-Ellison syndrome.

    Science.gov (United States)

    Meko, J B; Norton, J A

    1995-01-01

    Zollinger-Ellison syndrome (ZES) is caused by gastrin-secreting tumors called gastrinomas. Patients commonly present with peptic ulcer disease and may have recurrent, multiple, and atypically located ulcers, e.g. in the jejunum. Alternatively, severe diarrhea may be the only presenting symptom. Patients with multiple endocrine neoplasia Type I (MEN-I) and ZES become symptomatic at an earlier age than patients with sporadic ZES. Patients with ZES have elevated fasting serum gastrin concentrations (> 100 pg/ml) and basal gastric acid hypersecretion (> 15 mEq/h). The secretin stimulation test is the best test to distinguish ZES from other conditions resulting in elevated gastrin levels. Gastric acid hypersecretion can be controlled in virtually all patients with H2-receptor antagonists or omeprazole, thus rendering total gastrectomy unnecessary. Computed tomography (CT), magnetic resonance imaging (MRI), radionuclide octreotide scanning, endoscopic ultrasound, and the selective arterial secretin injection test are the recommended imaging studies for localization of gastrinoma; nevertheless, 50% of gastrinomas are not evident on preoperative imaging studies. All patients with sporadic gastrinoma who do not have unresectable metastatic disease should undergo exploratory laparotomy for potential curative resection. With increased awareness of duodenal tumors, gastrinoma can be found in 80-90% of patients. Surgery may be the most effective treatment for metastatic gastrinoma if most or all of the tumor can be resected. The management of patients with MEN-I and ZES remains controversial. Some clinicians advocate an aggressive surgical approach, whereas others have had little success in rendering patients eugastrinemic.

  15. Oropharyngeal Dysphagia in patients with obstructive sleep apnea syndrome.

    Science.gov (United States)

    Schindler, Antonio; Mozzanica, Francesco; Sonzini, Giulia; Plebani, Daniela; Urbani, Emanuele; Pecis, Marica; Montano, Nicola

    2014-02-01

    Although previous studies demonstrated that patients with obstructive sleep apnea syndrome (OSAS) may present subclinical manifestations of dysphagia, in not one were different textures and volumes systematically studied. The aim of this study was to analyze the signs and symptoms of oropharyngeal dysphagia using fiberoptic endoscopic evaluation of swallowing (FEES) with boluses of different textures and volumes in a large cohort of patients with OSAS. A total of 72 OSAS patients without symptoms of dysphagia were enrolled. The cohort was divided in two groups: 30 patients with moderate OSAS and 42 patients with severe OSAS. Each patient underwent a FEES examination using 5, 10 and 20 ml of liquids and semisolids, and solids. Spillage, penetration, aspiration, retention, and piecemeal deglutition were considered. The penetration-aspiration scale (PAS), pooling score (PS), and dysphagia outcome and severity scale (DOSS) were used for quantitative analysis. Each patient completed the SWAL-QOL questionnaire. Forty-six patients (64 %) presented spillage, 20 (28 %) piecemeal deglutition, 26 (36 %) penetration, and 30 (44 %) retention. No differences were found in the PAS, PS, and DOSS scores between patients with moderate and severe OSAS. Patients with severe OSAS scored higher General Burden and Food selection subscales of the SWAL-QOL. Depending on the DOSS score, the cohort of patients was divided into those with and those without signs of dysphagia. Patients with signs of dysphagia scored lower in the General Burden and Symptoms subscales of the SWAL-QOL. OSAS patients show signs of swallowing impairment in about half of the population; clinicians involved in the management of these patients should include questions on swallowing when taking the medical history.

  16. Abacavir-induced reversible Fanconi syndrome with nephrogenic diabetes insipidus in a patient with acquired immunodeficiency syndrome

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    Ahmad M

    2006-01-01

    Full Text Available There are several reports of Fanconi syndrome (FS with or without nephrogenic diabetes insipidus (NDI in patients with human immunodeficiency virus (HIV infection, treated with various antiretroviral medications like cidofovir, adefovir, didenosine and tenofovir. But neither FS nor NDI has been documented with abacavir therapy. We are reporting the first case of abacavir-induced reversible FS with NDI in a patient with acquired immunodeficiency syndrome, who recovered completely with supportive treatment and discontinuation of abacavir.

  17. Spectrum of NSD1 gene mutations in southern Chinese patients with Sotos syndrome

    Institute of Scientific and Technical Information of China (English)

    Tony M.F. Tong; Edgar W.L. Hau; Ivan F.M. Lo; Daniel H.C. Chan; Stephen T.S. Lam

    2005-01-01

    Background Sotos syndrome is an overgrowth syndrome with characteristic facial gestalt and mental retardation of variable severity. Haploinsufficiency of the NSD1 gene has been implicated as the major cause of Sotos syndrome, with a predominance of microdeletions reported in Japanese patients. This study was conducted to investigate into the spectrum of NSD1 gene mutations in southern Chinese patients with Sotos syndrome. Methods Thirty-six Chinese patients with Sotos syndrome and two patients with Weaver syndrome were subject to molecular testing. Results NSD1 gene mutations were detected in 26 (72%) Sotos patients. Microdeletion was found in only 3 patients, while the other 23 had point mutations (6 frameshift, 8 nonsense, 2 spice site, and 7 missense). Of these, 19 mutations were never reported. NSD1 gene mutations were not found in the two patients with Weaver syndrome. Conclusions Most cases of Sotos syndrome are caused by NSD1 gene defects, but the spectrum of mutations is different from that of Japanese patients. Genotype-phenotype correlation showed that patients with microdeletions might be more prone to congenital heart disease but less likely to have somatic overgrowth. The two patients with Weaver syndrome were not found to have NSD1 gene mutations, but the number was too small for any conclusion to be drawn.

  18. Irritable bowel syndrome: Physicians' awareness and patients' experience

    Institute of Scientific and Technical Information of China (English)

    Linda Bjork Olafsdottir; Hallgrímur Gudjonsson; Heidur Hrund Jonsdottir; Jon Steinar Jonsson; Einar Bjornsson; Bjarni Thjodleifsson

    2012-01-01

    AIM:TO study if and how physicians use the irritable bowel syndrome (IBS) diagnostic criteria and to assess treatment strategies in IBS patients.METHODS:A questionnaire was sent to 191 physicians regarding IBS criteria,diagnostic methods and treatment.Furthermore,94 patients who were diagnosed with IBS underwent telephone interview.RESULTS:A total of 80/191 (41.9%) physicians responded to the survey.Overall,13 patients were diagnosed monthly with IBS by specialists in gastroenterology (SGs) and 2.5 patients by general practitioners (GPs).All the SGs knew of the criteria to diagnose IBS,as did 46/70 (65.7%) GPs.Seventy-nine percent used the patient's history,38% used a physical examination,and 38% exclusion of other diseases to diagnose IBS.Only 18/80 (22.5%) physicians used specific IBS criteria.Of the patients interviewed,5g/94 (62.8%) knew they had experienced IBS.Two out of five patients knew IBS and had seen a physician because of IBS symptoms.Half of those received a diagnosis of IBS.A total of 13% were satisfied with treatment.IBS affected daily activities in 43% of cases.CONCLUSION:Half of the patients with IBS who consuited a physician received a diagnosis.Awareness and knowledge of diagnostic criteria for IBS differ between SGs and GPs.

  19. Cowdens syndrom diagnosticeret hos patienter med store hoveder, falske vorter og struma

    DEFF Research Database (Denmark)

    Skytte, Anne-Bine; Bojesen, Anders; Bygum, Anette

    2014-01-01

    Cowden syndrome is a rare autosomal dominant syndrome with a predisposition to cancer. We present a case of Cowden syndrome in a mother and her son, who were diagnosed with palmoplantar hyperkeratosis, macrocephaly and goitre. Early diagnosis is a challenge as the patients present with a variety...

  20. Anesthesia Management of a Patient with Kearn%u2019s - Sayre Syndrome

    OpenAIRE

    Biricik Çakmak

    2013-01-01

    Kearn’s Sayre Syndrome is a multi-system mitochondrial myopathy which has rarely seen. We report a patient with Kearn’s Sayre syndrome who had laparoscopic cholesistectomy and pyeloplasty operation under combined spinal epidural anesthesia and importance of anesthesia management of this syndrome.

  1. Surgical efficacy of carpal tunnel release for carpal tunnel syndrome in acromegaly: report of four patients.

    Science.gov (United States)

    Iwasaki, N; Masuko, T; Ishikawa, J; Minami, A

    2005-12-01

    Although carpal tunnel syndrome is frequent in acromegaly, few acromegalics will be encountered by most hand surgeons. This paper considers the treatment of four cases of acromegaly in whom carpal tunnel syndrome arose, to discuss aspects of management of carpal tunnel syndrome in this patient group.

  2. Anesthesia Management of a Patient with Kearn%u2019s - Sayre Syndrome

    Directory of Open Access Journals (Sweden)

    Biricik Çakmak

    2013-03-01

    Full Text Available Kearn’s Sayre Syndrome is a multi-system mitochondrial myopathy which has rarely seen. We report a patient with Kearn’s Sayre syndrome who had laparoscopic cholesistectomy and pyeloplasty operation under combined spinal epidural anesthesia and importance of anesthesia management of this syndrome.

  3. Phenotype and genotype in 17 patients with Goltz-Gorlin syndrome

    NARCIS (Netherlands)

    Maas, S.M.; Lombardi, P.M.; van Essen, A.J.; Wakeling, E.L.; Castle, B.; Temple, I.K.; Kumar, V.K.A.; Writzl, K.; Hennekam, R.C.M.

    2009-01-01

    Background: Goltz-Gorlin syndrome or focal dermal hypoplasia is a highly variable, X-linked dominant syndrome with abnormalities of ectodermal and mesodermal origin. In 2007, mutations in the PORCN gene were found to be causative in Goltz-Gorlin syndrome. Method: A series of 17 patients with Goltz-G

  4. Phenotype and genotype in 17 patients with Goltz-Gorlin syndrome

    NARCIS (Netherlands)

    Maas, S. M.; Lombardi, M. P.; van Essen, A. J.; Wakeling, E. L.; Castle, B.; Temple, I. K.; Kumar, V. K. A.; Writzl, K.; Hennekam, Raoul C. M.

    2009-01-01

    Background: Goltz-Gorlin syndrome or focal dermal hypoplasia is a highly variable, X-linked dominant syndrome with abnormalities of ectodermal and mesodermal origin. In 2007, mutations in the PORCN gene were found to be causative in Goltz-Gorlin syndrome. Method: A series of 17 patients with Goltz-G

  5. [Epidural anesthesia and analgesia in the perioperative treatment of a patient with Kartagener syndrome].

    Science.gov (United States)

    Errando, C L; Sifre, C; López-Alarcón, D

    1998-12-01

    Kartagener's syndrome is an inherited disease characterized by a triad of symptoms--bronchiectasis, situs inversus and sinusitis--and is classified as an immotile cilia syndrome. Patients may experience specific airway problems when undergoing anesthesia for surgical procedures. We report the case of a woman with Kartagener's syndrome who underwent surgery under epidural anesthesia with postoperative epidural analgesia, both techniques proving successful.

  6. Differences in physical functioning between relatively active and passive patients with Chronic Fatigue Syndrome.

    NARCIS (Netherlands)

    Vos-Vromans, D.C.; Huijnen, I.P.; Koke, A.J.; Seelen, H.A.; Knottnerus, J.A.; Smeets, R.J.P.

    2013-01-01

    OBJECTIVE: According to the Cognitive behavioral therapy (CBT) protocol for patients with Chronic Fatigue Syndrome (CFS), therapists are advised to categorize patients in relatively active and passive patients. However, evidence to support the differences in physical functioning between these subgro

  7. Multiple abdominal cysts in a patient with Gorlin-Goltz syndrome: a case report.

    Science.gov (United States)

    Haenen, F; Hubens, G; Creytens, D; Vaneerdeweg, W

    2013-01-01

    A rare case of symptomatic mesenteric cysts in a patient with Gorlin-Goltz syndrome, associated with various neoplasms, is presented. The patient, known with Gorlin-Goltz syndrome, consulted with increasingly severe abdominal pain and large abdominal cysts. At surgery, the cysts were excised and the postoperative course was uneventful. In conclusion, this case reminds clinicians to always maintain a wide differential diagnosis when dealing with patients known with Gorlin-Goltz syndrome.

  8. CEREBROCARDIAC SYNDROME ON PATIENTS OF OVER SEVENTY AGE AND EEG STUDY

    Institute of Scientific and Technical Information of China (English)

    LIU Mingshun; MEI Fengjun; LI Fengluan; LIU Qingrui; GU Lanjie

    2005-01-01

    Objectives: To observe cerebrocardiac syndrome on patients of the over seventy age and it's change of EEG. Methods: Brain CT and ECG were examined in 50 patients of the over seventy age with cerebrocardiac syndrome. Results: There were obvious changes in the brain CT and ECG. Conclusion:There were obvious changes of brain CT and ECG in cerebrocardiac syndrome of over seventy age patients.

  9. Eisenmenger syndrome and long-term survival in patients with Down syndrome and congenital heart disease.

    Science.gov (United States)

    Körten, Marc-André; Helm, Paul C; Abdul-Khaliq, Hashim; Baumgartner, Helmut; Kececioglu, Deniz; Schlensak, Christian; Bauer, Ulrike M M; Diller, Gerhard-Paul

    2016-10-01

    To characterise patients with trisomy 21 (Down syndrome, DS) based on the data of the German National Register for Congenital Heart Defects, to identify changes in the availability of surgical therapy over time and to analyse the impact of these changes on developing Eisenmenger syndrome (ES) as well as survival. Out of 1549 patients with DS with congenital heart disease in the National Register for Congenital Heart Defects, 894 patients (55% female, mean age 17.5 years) had a post-tricuspid shunt lesion (atrioventricular septal defect 69.5%, ventricular septal defect 27.7%, patent arterial duct 2.6%) and were included in the current study. The likelihood of being treated interventionally or surgically before the age of 1 year increased significantly over time. In parallel, the likelihood of developing ES decreased over time (53% birth cohort during 1950s/1960s vs 0.5% birth cohort during 2000-2009, p<0.0001). Overall survival after 1, 10, 20 and 40 years was 96.8%, 94.1%, 92.6% and 75.5%, respectively. Patients with ES had a significantly worse survival compared with those without ES (HR 18.1; 95% CI 7.2 to 45.4; p<0.0001). The availability of surgical correction was associated with a decrease in the likelihood of developing ES. Patients with DS still have reduced survival prospects compared with the general population, but this effect is largely driven by patients developing ES who still have a very poor prognosis. Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://www.bmj.com/company/products-services/rights-and-licensing/

  10. Osteogenetic changes in elongated styloid processes of Eagle syndrome patients.

    Science.gov (United States)

    Kim, Soung Min; Seo, Mi Hyun; Myoung, Hoon; Choi, Jin Young; Kim, Yeon Sook; Lee, Suk Keun

    2014-07-01

    Abnormal elongation of the styloid process, or Eagle syndrome, can be painful, and is associated with differential diagnoses including cranio-facial malformations and vasculo-neurological disturbances. The precise molecular mechanism leading to styloid process elongation is unknown. In this study, elongated styloid processes with periosteal fibrous ligament tissue were obtained from three patients with Eagle syndrome and examined by immunohistochemical methods using different antisera. In all cases, marked bony deposition was found at the apex of the styloid process. The osteogenetic proteins, such as osteonectin, osteocalcin, BMP-2, BMP-4, and RANKL were strongly positive by immunohistochemistry in both the ligament fibers and the periosteal membrane attached to the styloid process apex. Staining for protective proteins, HO-1, HSP-70, and HSP-90 was also positive. These results suggest that styloid process elongation is related to increased expression of osteogenetic and protective proteins. Therefore, we propose that Eagle syndrome results from a protective response to increased tensile stress in the ligament attached to the styloid process, which could also signal osteogenetic protein expression in the periosteal fibrous tissue.

  11. Morvan Syndrome: A Case Report With Patient Narrative and Video.

    Science.gov (United States)

    Maskery, Mark; Chhetri, Suresh K; Dayanandan, Rejith; Gall, Claire; Emsley, Hedley C A

    2016-01-01

    A 74-year-old gentleman was admitted to the regional neurosciences center with encephalopathy, myokymia, and dysautonomia. Chest imaging had previously identified an incidental mass in the anterior mediastinum, consistent with a primary thymic tumor. Antivoltage-gated potassium channel (anti-VGKC) antibodies were positive (titer 1273 pmol/L) and he was hypokalemic. Electromyogram and nerve conduction studies were in keeping with peripheral nerve hyperexcitability syndrome, and an electroencephalogram was consistent with encephalopathy. A diagnosis of Morvan syndrome was made, for which he was initially treated with high-dose steroids, followed by a 5-day course of intravenous immunoglobulin (IVIG) therapy. He also underwent thymectomy, followed by a postexcision flare of his symptoms requiring intensive care management. Further steroids, plasmapheresis, and IVIG achieved stabilization of his clinical condition, enabling transfer for inpatient neurorehabilitation. He was commenced on azathioprine and a prolonged oral steroid taper. A subsequent presumed incipient relapse responded well to further IVIG treatment. This case report documents a thymoma-associated presentation of anti-VGKC-positive Morvan syndrome supplemented by patient and carer narrative and video, both of which provide valuable further insights into this rare disorder. There are a limited number of publications surrounding this rare condition available in the English literature. This, combined with the heterogenous presentation, association with underlying malignancy, response to treatment, and prognosis, provides a diagnostic challenge. However, the association with anti-VGKC antibody-associated complexes and 2 recent case series have provided some scope for both accurate diagnosis and management.

  12. The management of patients with polycystic ovary syndrome.

    Science.gov (United States)

    Jayasena, Channa N; Franks, Stephen

    2014-10-01

    Polycystic ovary syndrome (PCOS) is the most common endocrine disorder in women. The syndrome is typified by its heterogeneous presentation, which includes hirsutism (a function of hypersecretion of ovarian androgens), menstrual irregularity and infertility (that is due to infrequent or absent ovulation). Furthermore, PCOS predisposes patients to metabolic dysfunction and an increased risk of type 2 diabetes mellitus (T2DM). The aetiology of the syndrome has a major genetic component. Obesity exacerbates the insulin resistance that is a feature of PCOS in many women and amplifies the clinical and biochemical abnormalities. In clinical practice, the choice of investigations to be done depends mainly on the presenting symptoms. The approach to management is likewise dependent on the presenting complaint. Symptoms of androgen excess (hirsutism, acne and alopecia) require cosmetic measures, suppression of ovarian androgen function and anti-androgen therapy, alone or in combination. Ovulation rate is improved by diet and lifestyle intervention in overweight individuals but induction of ovulation by, in the first instance, anti-estrogens is usually required. Monitoring of glucose is important in overweight women and/or those with a family history of T2DM. Metformin is indicated for women with impaired glucose tolerance but whether this drug is otherwise useful in women with PCOS remains debatable.

  13. Association of Restless Legs Syndrome Variants in Korean Patients with Restless Legs Syndrome

    Science.gov (United States)

    Kim, Myeong-Kyu; Cho, Yong Won; Shin, Won Chul; Cho, Jae Wook; Shon, Young Min; Kim, Jee Hyun; Yang, Kwang Ik; Earley, Christopher J.; Allen, Richard P.

    2013-01-01

    Study Objectives: Recent genome-wide association studies (GWAS) for Caucasians identified several allelic variants associated with increased risk of developing restless legs syndrome (RLS), also known as Willis-Ekbom disease. Although the pathogenic mechanisms of RLS are not entirely understood, it is becoming increasingly evident that many diseases such as RLS can be attributed to an epistasis. The study objectives were to evaluate whether the associations of RLS with all loci determined in previous GWAS for Caucasians can be replicated significantly for the Korean population and to elucidate whether an epistasis plays a role in the pathogenesis of RLS. Design, Setting, and Participants: DNA from 320 patients with RLS and 320 age- and sex-matched controls were genotyped for variants in the RLS loci. Measurements and Results: A significant association was found for rs3923809 and rs9296249 in BTBD9 (P < 0.0001 and P = 0.001, respectively); the odds ratio (OR) for rs3923809 was 1.61 (P < 0.0001) to 1.88 (P < 0.0001) and the OR for rs9296249 was 1.44 (P = 0.001) to 1.73 (P = 0.002), according to the model of inheritance. The OR for the interaction between rs3923809 in BTBD9 and rs4626664 in PTPRD was 2.05 (P < 0.0001) in the additive model, 1.80 (P = 0.002) in the dominant model and 2.47 (P = 0.004) in the recessive model. There was no significant association between genotypes of all tested single nucleotide polymorphisms and the mean value of serum iron parameters. Conclusions: Our results suggest that the role of BTBD9 in the pathogenesis of restless legs syndrome is more universal across populations than previously reported and more efforts should be focused on the role of epistasis in the genetic architecture of restless legs syndrome. Citation: Kim MK; Cho YW; Shin WC; Cho JW; Shon YM; Kim JH; Yang KI; Earley CJ; Allen RP. Association of restless legs syndrome variants in Korean patients with restless legs syndrome. SLEEP 2013;36(12):1787-1791. PMID:24293752

  14. SSUES OF THE CARE OF PATIENTS WITH SYNDROM OF DEMENTIA

    Directory of Open Access Journals (Sweden)

    Jedlinská Martina

    2013-12-01

    Full Text Available This article aims to acquaint the reader with the characteristics and problems of care for patients with dementia and options selected inpatient care for these patients in the Pardubice region. The theoretical part provides an overview of the issue of care for patients with dementia or dementia. The empirical part focuses on the description of selected characteristics of clients in the health-care facility, which is an example of good practice care for the elderly. In these age group is the greatest prevalence of dementia and syndrom of dementia as diagnosed disease. The discussion paper presents a reflection on the possible reasons for placing these clients in various types of inpatient facilities after discharge from aftercare and the circumstances of care for these clients.

  15. Is synaesthesia more common in patients with Asperger syndrome?

    Directory of Open Access Journals (Sweden)

    Janina eNeufeld

    2013-12-01

    Full Text Available There is increasing evidence from case reports that synaesthesia is more common in individuals with autism spectrum conditions (ASC. Further, genes related to synaesthesia have also been found to be linked to ASC and, similar to synaesthetes, individuals with ASC show altered brain connectivity and unusual brain activation during sensory processing. However, up to now a systematic investigation of whether synaesthesia is more common in ASC patients is missing.The aim of the current pilot study was to test this hypothesis by investigating a group of patients diagnosed with Asperger Syndrome (AS using questionnaires and standard consistency tests in order to classify them as grapheme-colour synaesthetes. The results indicate that there are indeed many more grapheme-colour synaesthetes among AS patients. This finding is discussed in relation to different theories regarding the development of synaesthesia as well as altered sensory processing in autism.

  16. Matrix metalloproteinase-9 in patients with acute coronary syndrome

    Institute of Scientific and Technical Information of China (English)

    Regent Lee

    2012-01-01

    To the Editor:I congratulate Wang et al1 in reporting further evidence for the role of matrix metalloproteinase-9 (MMP9)as a biomarker in acute coronary syndrome (ACS).In this study,the Authors examined the levels of MMP9 and C-reactive protein (CRP) in patients with a clinical diagnosis of unstable angina pectoris who subsequently underwent coronary angiography to evaluate the presence of coronary artery disease.Two subgroups of patients were defined according to the presence or absence of significant angiographic coronary artery stenosis.The level of MMP9 was significantly higher in patients with angiographic evidence of significant plaque disease (plaque group) compared with those without significant coronary stenosis (non-plaque group).No significant differences in the levels of CRP were observed between the two groups.

  17. Is synesthesia more common in patients with Asperger syndrome?

    Science.gov (United States)

    Neufeld, Janina; Roy, Mandy; Zapf, Antonia; Sinke, Christopher; Emrich, Hinderk M; Prox-Vagedes, Vanessa; Dillo, Wolfgang; Zedler, Markus

    2013-01-01

    There is increasing evidence from case reports that synesthesia is more common in individuals with autism spectrum conditions (ASC). Further, genes related to synesthesia have also been found to be linked to ASC and, similar to synaesthetes, individuals with ASC show altered brain connectivity and unusual brain activation during sensory processing. However, up to now a systematic investigation of whether synesthesia is more common in ASC patients is missing. The aim of the current pilot study was to test this hypothesis by investigating a group of patients diagnosed with Asperger Syndrome (AS) using questionnaires and standard consistency tests in order to classify them as grapheme-color synaesthetes. The results indicate that there are indeed many more grapheme-color synaesthetes among AS patients. This finding is discussed in relation to different theories regarding the development of synesthesia as well as altered sensory processing in autism.

  18. Cutaneous Vasculitis in a Patient with Antiphospholipid Antibody Syndrome.

    Science.gov (United States)

    Sheth, Khushboo; Parke, Ann

    2016-02-01

    Antiphospholipid antibody syndrome (APS) is an acquired thrombophilia, caused by autoantibodies to anticardiolipin (aCL), or antibeta 2 glycoprotein I, or the presence of lupus anticoagulant (LA) in plasma. It is characterized by recurrent venous and/or arterial thrombi and/or pregnancy related morbidities. We present the case of a 52-year-old female with long-standing APS, who developed cutaneous vasculitis following a common cold. Most of the cutaneous manifestations of APS have been found to be thrombotic on histopathology without evidence of perivascular inflammation. Vasculitis is usually seen in APS patients with coexistent Systemic Lupus Erythematosus (SLE). However, our patient had evidence of vasculitis on skin biopsy and did not have SLE. Though rare, this is a disease process which must be considered in patients with primary APS which must be closely monitored for other vasculitic complications of APS, particularly diffuse alveolar hemorrhage.

  19. Cephalohematoma in a Patient with Ehlers-Danlos Syndrome

    Directory of Open Access Journals (Sweden)

    Brent M Felton

    2013-09-01

    Full Text Available Ehlers-Danlos syndrome is a rarely encountered connective tissue disorder characterized by skin hyper-elasticity, joint hyper-flexibility, and vasculature fragility. We report a 41-year-old female presenting with scalp swelling following minor head trauma. The patient presented with a large cephalohematoma that despite compressive measures and Factor IX administration continued to progress, necessitating transfer for definitive surgical intervention. The patient underwent surgical evacuation of approximately 1 liter of blood, followed by drain placement and compression dressing. This case underscores the importance for emergency physicians to recognize the potential vascular catastrophes these patients may present with following even minor injury. [West J Emerg Med. 2013;14(5:419-420.

  20. General anesthesia in patients with syndrome of Poland.

    Science.gov (United States)

    Díaz-Crespo, J; Vázquez-Mambrilla, Y; García-Herrera, F

    2017-02-01

    The increased use of surgery as a treatment or as an alternative for improvement means that we have a larger number of patients in the operating theatre, including those who suffer from rare diseases. Poland Syndrome is a rare congenital disease associated with muscle development. These patients may have a broad spectrum of abnormalities, which include thoracic anomalies, which can alter the ventilatory management at the level of the airway; the possible onset of malignant hyperthermia. This leads the anaesthetist to take certain preventive measures. We report the case of a patient with Poland syndrome operated for the placement of a breast prosthesis. We avoid halogenated agents, and use a Total Intravenous Anaesthesia with propofol. The appearance of muscle spasms as a result of the use of propofol, forced us into a second anaesthesia to perform total intravenous anaesthesia with Midazolam. Copyright © 2016 Sociedad Española de Anestesiología, Reanimación y Terapéutica del Dolor. Publicado por Elsevier España, S.L.U. All rights reserved.

  1. Cytogenetic evaluation of patients with clinical spectrum of Turner syndrome

    Science.gov (United States)

    Moka, Rajasekhar; Sreelakshmi, Kodandapani; Gopinath, Puthiya Mundyat; Satyamoorthy, Kapettu

    2013-01-01

    AIM: The objective of this study was to correlate the genotype, of female patients, withshort stature and primary amenorrhea. MATERIALS AND METHODS: One hundred and forty-six subjects were recruited during 2005-2012. Microscopic and automated karyotyping analyses were done by using chromosomes isolated from the lymphocytes using Giemsa banding (GTG) to identify chromosome abnormalities. RESULTS: A total of 146 clinically suspected Turner syndrome (TS) subjects were recruited for the study, of which, 61 patients were identified to have chromosome abnormalities. The chromosomal abnormalities detected were as follows: Monosomy X (n = 19, 13.01%), triple X syndrome (n = 4, 2.7%), mosaic TS (n = 12, 8.21%), XY gonadal dysgenesis (n = 13, 8.9%), and structural abnormalities including X chromosome (n = 15, 10.27%) and one patient each with autosomal changes involving 9qh inversion and translocation of chromosomes 12 and 14. CONCLUSION: Karyotype abnormalities accounting for 46% in this study emphasize the need for karyotype testing in cases of short stature with primary amenorrhea. PMID:24082654

  2. [Cerebral salt wasting syndrome in a patient with viral meningoencephalitis].

    Science.gov (United States)

    Namba, Tomoko; Harada, Tamaki; Sakai, Kanaki; Takeji, Masanobu; Takahara, Ken; Uzu, Takashi; Yamauchi, Atsushi

    2006-01-01

    A 53-year-old male was admitted to our hospital for a high fever. He suffered a change in personality, memory loss and disorientation as well. The findings of cerebrospinal fluid showed monocytosis, but the titers of glucose, C1 and ADA were all normal. Although there was no bacterium in the CSF, the patient's electroencephalography finding was abnormal. We diagnosed his condition as viral meningoencephalitis and started treatment with antiviral agents. Blood chemistry showed serum sodium of 130 mEq/l and plasma osmolarity was reduced to 272 mOsm/kg, while urine osmolarity was high at 353 mOsm/kg. Two potential causes of hyponatremia in this patient were the syndrome of inappropriate secretion of antidiuretic hormone (SIADH) or cerebral salt wasting syndrome (CSWS). Physical findings revealed a contracted extracellular fluid volume, strongly suggesting the presence of CSWS. The massive urine sodium loss overcoming sodium intake supported this diagnosis. After treatment with vigorous sodium and volume replacement for over 4 weeks, hyponatremia as well as meningoencephalitis were improved without any complication. To the best of our knowledge, this is the first report on CSWS in a patient with viral meningoencephalitis.

  3. Role of FODMAPs in Patients With Irritable Bowel Syndrome.

    Science.gov (United States)

    Mansueto, Pasquale; Seidita, Aurelio; D'Alcamo, Alberto; Carroccio, Antonio

    2015-10-01

    Irritable bowel syndrome (IBS) is a condition characterized by abdominal pain, bloating, flatus, and altered bowel habits. The role of dietary components in inducing IBS symptoms is difficult to explore. To date, foods are not considered a cause but rather symptom-triggering factors. Particular interest has been given to the so-called FODMAPs (fermentable oligo-, di-, and monosaccharides and polyols). We aimed to summarize the evidence from the most common approaches to manage suspected food intolerance in IBS, with a particular interest in the role of FODMAPs and the effects of a low FODMAP diet. We reviewed literature, consulting PubMed and Medline by using the search terms FODMAP(s), fructose, lactose, fructans, galactans, polyols (sorbitol, mannitol, maltitol, xylitol, erythritol, polydextrose, and isomalt), irritable bowel syndrome, and functional gastrointestinal symptoms. FODMAP-restricted diets have been used for a long time to manage patients with IBS. The innovation in the so-called FODMAP concept is that a global restriction should have a more consistent effect than a limited one in preventing abdominal distension. Even though all the potential low FODMAP diets provide good relief of symptoms in many patients, there is just a little relief in others. Several studies highlight the role of low FODMAP diets to improve symptoms in patients with IBS. The evidence on this dietary approach supports the hypothesis that a low FODMAP diet should be the first dietary approach. However, many points remain to be clarified, including the evaluation of possibly significant nutrition concerns.

  4. Cytogenetic evaluation of patients with clinical spectrum of Turner syndrome

    Directory of Open Access Journals (Sweden)

    Rajasekhar Moka

    2013-01-01

    Full Text Available Aim: The objective of this study was to correlate the genotype, of female patients, withshort stature and primary amenorrhea. Materials and Methods: One hundred and forty-six subjects were recruited during 2005-2012. Microscopic and automated karyotyping analyses were done by using chromosomes isolated from the lymphocytes using Giemsa banding (GTG to identify chromosome abnormalities. Results: A total of 146 clinically suspected Turner syndrome (TS subjects were recruited for the study, of which, 61 patients were identified to have chromosome abnormalities. The chromosomal abnormalities detected were as follows: Monosomy X (n = 19, 13.01%, triple X syndrome (n = 4, 2.7%, mosaic TS (n = 12, 8.21%, XY gonadal dysgenesis (n = 13, 8.9%, and structural abnormalities including X chromosome (n = 15, 10.27% and one patient each with autosomal changes involving 9qh inversion and translocation of chromosomes 12 and 14. Conclusion: Karyotype abnormalities accounting for 46% in this study emphasize the need for karyotype testing in cases of short stature with primary amenorrhea.

  5. Management of Diabetes Mellitus in Patients with Acquired Immunodeficiency Syndrome

    Directory of Open Access Journals (Sweden)

    Miulescu Rucsandra Dănciulescu

    2014-06-01

    Full Text Available Acquired immunodeficiency syndrome (AIDS is a human immune system disease characterized by increased susceptibility to opportunistic infections, certain cancers and neurological disorders. The syndrome is caused by the human immunodeficiency virus (HIV that is transmitted through blood or blood products, sexual contact or contaminated hypodermic needles. Antiretroviral treatment reduces the mortality and the morbidity of HIV infection but is increasingly reported to be associated with increasing reports of metabolic abnormalities. The prevalence and incidence of diabetes mellitus in patients on antiretroviral therapy is high. Recently, a joint panel of American Diabetes Association (ADA and European Association for the Study of Diabetes (EASD experts updated the treatment recommendations for type 2 diabetes (T2DM in a consensus statement which provides guidance to health care providers. The ADA and EASD consensus statement concur that intervention in T2DM should be early, intensive, and uncompromisingly focused on maintaining glycemic levels as close as possible to the nondiabetic range. Intensive glucose management has been shown to reduce microvascular complications of diabetes but no significant benefits on cardiovascular diseases. Patients with diabetes have a high risk for cardiovascular disease and the treatment of diabetes should emphasize reduction of the cardiovascular factors risk. The treatment of diabetes mellitus in AIDS patients often involves polypharmacy, which increases the risk of suboptimal adherence

  6. Propofol-Remifentanil Combination for Management of Electroconvulsive Therapy in a Patient with Neuroleptic Malignant Syndrome

    Directory of Open Access Journals (Sweden)

    Modabber Arasteh

    2012-01-01

    Full Text Available Electroconvulsive therapy can be effective in severe or treatment resistant neuroleptic malignant syndrome patients. Anesthesia and use of muscle relaxant agents for electroconvulsive therapy in such patients may encounter anesthesiologists with specific challenges. This case report describes successful management of anesthesia in 28-year-old male patient undergoing eight electroconvulsive therapy sessions for treatment of neuroleptic malignant syndrome.

  7. Correlation between clinical features and MECP2 gene mutations in patients with Rett syndrome

    Directory of Open Access Journals (Sweden)

    Hisham Megahed

    2015-03-01

    Conclusions: Mutation screening for MECP2 is a fast and reliable method to diagnose patients clinically suspected to suffer from Rett syndrome or female patients with atypical Rett syndrome features, mental retardation, developmental delay and other neurological abnormalities who do not fit any specific diagnosis. Also, patients with MECP2 mutation presented with a more severe phenotype.

  8. Correlation between albuminemia, natremia and survival rates in patients with hepatorenal syndrome.

    Science.gov (United States)

    Niculae, A; Jinga, Mariana; Ciocâlteu, A; Lascăr, I; Jinga, V; Checheriţă, I A

    2011-01-01

    A two years prospective study was developed, based on the monitoring of 84 patients with cirrhosis and elevated serum creatinine; 33 patients met the diagnostic criteria for the hepatorenal syndrome. In these 33 patients, survival rate has been studied in correlation with hepatorenal syndrome types, serum albumin and natremia.

  9. Mutations in epilepsy and intellectual disability genes in patients with features of Rett syndrome.

    Science.gov (United States)

    Olson, Heather E; Tambunan, Dimira; LaCoursiere, Christopher; Goldenberg, Marti; Pinsky, Rebecca; Martin, Emilie; Ho, Eugenia; Khwaja, Omar; Kaufmann, Walter E; Poduri, Annapurna

    2015-09-01

    Rett syndrome and neurodevelopmental disorders with features overlapping this syndrome frequently remain unexplained in patients without clinically identified MECP2 mutations. We recruited a cohort of 11 patients with features of Rett syndrome and negative initial clinical testing for mutations in MECP2. We analyzed their phenotypes to determine whether patients met formal criteria for Rett syndrome, reviewed repeat clinical genetic testing, and performed exome sequencing of the probands. Using 2010 diagnostic criteria, three patients had classical Rett syndrome, including two for whom repeat MECP2 gene testing had identified mutations. In a patient with neonatal onset epilepsy with atypical Rett syndrome, we identified a frameshift deletion in STXBP1. Among seven patients with features of Rett syndrome not fulfilling formal diagnostic criteria, four had suspected pathogenic mutations, one each in MECP2, FOXG1, SCN8A, and IQSEC2. MECP2 mutations are highly correlated with classical Rett syndrome. Genes associated with atypical Rett syndrome, epilepsy, or intellectual disability should be considered in patients with features overlapping with Rett syndrome and negative MECP2 testing. While most of the identified mutations were apparently de novo, the SCN8A variant was inherited from an unaffected parent mosaic for the mutation, which is important to note for counseling regarding recurrence risks.

  10. Hunter-gatherer plant use in southwest Asia

    DEFF Research Database (Denmark)

    Otaegui, Amaia Arranz; Ibañez, Juan José; Zapata, Lydia

    2016-01-01

    This paper focuses on plant use by the last hunter-gatherers in the Levant, from the Last Glacial Maximum (LGM) to the first experiments with plant cultivation at the beginning of the Holocene. This review of Epipaleolithic and Early Neolithic plant use summarises available archaeobotanical and t...

  11. Planet Hunters 2 in the K2 Era

    Science.gov (United States)

    Schwamb, Megan E.; Fischer, Debra; Boyajian, Tabetha S.; Giguere, Matthew J.; Ishikawa, Sascha; Lintott, Chris; Lynn, Stuart; Schmitt, Joseph; Snyder, Chris; Wang, Ji; Barclay, Thomas

    2015-01-01

    Planet Hunters (http://www.planethunters.org) is an online citizen science project enlisting hundreds of thousands of people to search for planet transits in the publicly released Kepler data. Volunteers mark the locations of visible transits in a web interface, with multiple independent classifiers reviewing a randomly selected ~30-day light curve segment. In September 2014, Planet Hunters entered a new phase. The project was relaunched with a brand new online classification interface and discussion tool built using the Zooniverse's (http://www.zooniverse.org) latest technology and web platform. The website has been optimized for the rapid discovery and identification of planet candidates in the light curves from K2, the two-wheeled ecliptic plane Kepler mission. We will give an overview of the new Planet Hunters classification interface and Round 2 review system in context of the K2 data. We will present the first results from the Planet Hunters 2 search of K2 Campaigns 0 and 1 including a summary of new planet candidates.

  12. Planet Hunters: Assessing the Kepler Inventory of Short Period Planets

    CERN Document Server

    Schwamb, Megan E; Fischer, Debra A; Giguere, Matthew J; Lynn, Stuart; Smith, Arfon M; Brewer, John M; Parrish, Michael; Schawinski, Kevin; Simpson, Robert J

    2012-01-01

    We present the results from a search of data from the first 33.5 days of the Kepler science mission (Quarter 1) for exoplanet transits by the Planet Hunters citizen science project. Planet Hunters enlists members of the general public to visually identify transits in the publicly released Kepler light curves via the World Wide Web. Over 24,000 volunteers reviewed the Kepler Quarter 1 data set. We examine the abundance of \\geq 2 R\\oplus planets on short period (< 15 days) orbits based on Planet Hunters detections. We present these results along with an analysis of the detection efficiency of human classifiers to identify planetary transits including a comparison to the Kepler inventory of planet candidates. Although performance drops rapidly for smaller radii, \\geq 4 R\\oplus Planet Hunters \\geq 85% efficient at identifying transit signals for planets with periods less than 15 days for the Kepler sample of target stars. Our high efficiency rate for simulated transits along with recovery of the majority of Ke...

  13. Honey, Hadza, hunter-gatherers, and human evolution.

    Science.gov (United States)

    Marlowe, Frank W; Berbesque, J Colette; Wood, Brian; Crittenden, Alyssa; Porter, Claire; Mabulla, Audax

    2014-06-01

    Honey is the most energy dense food in nature. It is therefore not surprising that, where it exists, honey is an important food for almost all hunter-gatherers. Here we describe and analyze widespread honey collecting among foragers and show that where it is absent, in arctic and subarctic habitats, honey bees are also rare to absent. Second, we focus on one hunter-gatherer society, the Hadza of Tanzania. Hadza men and women both rank honey as their favorite food. Hadza acquire seven types of honey. Hadza women usually acquire honey that is close to the ground while men often climb tall baobab trees to raid the largest bee hives with stinging bees. Honey accounts for a substantial proportion of the kilocalories in the Hadza diet, especially that of Hadza men. Cross-cultural forager data reveal that in most hunter-gatherers, men acquire more honey than women but often, as with the Hadza, women do acquire some. Virtually all warm-climate foragers consume honey. Our closest living relatives, the great apes, take honey when they can. We suggest that honey has been part of the diet of our ancestors dating back to at least the earliest hominins. The earliest hominins, however, would have surely been less capable of acquiring as much honey as more recent, fully modern human hunter-gatherers. We discuss reasons for thinking our early ancestors would have acquired less honey than foragers ethnographically described, yet still significantly more than our great ape relatives.

  14. Medicinal and ethnoveterinary remedies of hunters in Trinidad

    OpenAIRE

    Georges Karla; Harper Tisha; Lans Cheryl; Bridgewater Elmo

    2001-01-01

    Abstract Background Ethnomedicines are used by hunters for themselves and their hunting dogs in Trinidad. Plants are used for snakebites, scorpion stings, for injuries and mange of dogs and to facilitate hunting success. Results Plants used include Piper hispidum, Pithecelobium unguis-cati, Bauhinia excisa, Bauhinia cumanensis, Cecropia peltata, Aframomum melegueta, Aristolochia rugosa, Aristolochia trilobata, Jatropha curcas, Jatropha gossypifolia, Nicotiana tabacum, Vernonia scorpioides, Pe...

  15. Sources of nonresponse to the Federal Waterfowl Hunter Questionnaire Survey

    Science.gov (United States)

    Barker, R.J.; Geissler, P.H.; Hoover, B.A.

    1992-01-01

    Response rates to the Federal Waterfowl Hunter Questionnaire Survey (WHQS) have declined since the 1950's, suggesting that harvest estimates may be biased. Consequently, we investigated reasons for WHQS nonresponse using surveys of waterfowl hunters in Arkansas, California, Louisiana, Minnesota, New Jersey, and Texas [USA]. Sampling frames were constructed using lists of buyers of state hunting licenses or state duck stamps. We mailed questionnaires to 16,452 randomly selected hunters, with 2 follow-up mailings at 3-week intervals. Questionnaires were completed by 8,812 respondents, and a further 587 interviews were conducted by telephone. Post offices accounted for between 53.7% (Minn.) and 92.8% (N.J.) of federal waterfowl duck stamp sales, and stores accounted for most other sales. Of hunters who bought a federal waterfowl stamp from sample post offices, between 16.7% (Minn.) and 40.0% (Ark.) reported receiving a WHQS contact card. Of those receiving contact cards, between 30.0% (N.J.) and 64.3% (La. and Tex.) reported returning them. Because survey coverage of the target population is poor, we recommend that a new sampling frame be developed for the WHQS.

  16. Hot subduction: Magmatism along the Hunter Ridge, SW Pacific

    Energy Technology Data Exchange (ETDEWEB)

    Crawford, A.J.; Verbeeten, A.; Danyushevsky, L.V.; Sigurdsson, I.A. [SRC for Ore Deposit Research, Hobart, TAS (Australia); Maillet, P. [Australian National University, Canberra, ACT (Australia). Department of Geology; Maillet, P. [ORSTOM Centre de Brest, France, (France); Monzier, M. [ORSTOM Centre, Ecuador, (Ecuador)

    1997-12-31

    The Hunter `fracture zone` is generally regarded as a transform plate boundary linking the oppositely dipping Tongan and Vanuatu subduction systems. Dredging along the Hunter Ridge and sampling of its northernmost extent, exposed as the island of Kadavu in Fiji, has yielded a diversity of magmatic suites, including arc tholeiites and high-Ca boninites, high-Mg lavas with some affinities to boninites and some affinities to adakites, and true adakitic lavas associated with remarkable low-Fe, high-Na basalts with 8-16 ppm Nb (herein high-Nb basalts). Lavas which show clear evidence of slab melt involvement in their petrogenesis occur at either end of the Hunter Ridge, whereas the arc tholeiites and high-Ca boninites appear to be restricted to the south central part of the ridge. Mineralogical and whole rock geochemical data for each of these suites are summarized, and a tectono-magmatic model for their genesis and distribution is suggested. Trace element features and radiogenic isotope data for the Hunter Ridge lavas indicate compositions analogue to Pacific MORB-like mantle. Extended abstract. 6 refs., 2 figs.

  17. The Enchanted Hunters in Nabokov’s Lolita

    National Research Council Canada - National Science Library

    Justine Shu- Ting Kao

    2017-01-01

    In Nabokov’s Lolita, Humbert Humbert’s The Enchanted Hunters, as a quest for love, aims to reconstruct a felicitous world or integrate various fragmentary details into an organic unity that revives a lost love, experiencing it on the...

  18. Camp stability predicts patterns of hunter-gatherer cooperation.

    Science.gov (United States)

    Smith, Daniel; Dyble, Mark; Thompson, James; Major, Katie; Page, Abigail E; Chaudhary, Nikhil; Salali, Gul Deniz; Vinicius, Lucio; Migliano, Andrea Bamberg; Mace, Ruth

    2016-07-01

    Humans regularly cooperate with non-kin, which has been theorized to require reciprocity between repeatedly interacting and trusting individuals. However, the role of repeated interactions has not previously been demonstrated in explaining real-world patterns of hunter-gatherer cooperation. Here we explore cooperation among the Agta, a population of Filipino hunter-gatherers, using data from both actual resource transfers and two experimental games across multiple camps. Patterns of cooperation vary greatly between camps and depend on socio-ecological context. Stable camps (with fewer changes in membership over time) were associated with greater reciprocal sharing, indicating that an increased likelihood of future interactions facilitates reciprocity. This is the first study reporting an association between reciprocal cooperation and hunter-gatherer band stability. Under conditions of low camp stability individuals still acquire resources from others, but do so via demand sharing (taking from others), rather than based on reciprocal considerations. Hunter-gatherer cooperation may either be characterized as reciprocity or demand sharing depending on socio-ecological conditions.

  19. Librarians as Hunter-Gatherers: Lessons Learned from an Excursion

    Science.gov (United States)

    Cooper, Mindy M.

    2013-01-01

    Fueled by the pressing need for electronic resource usage statistics, librarians are finding themselves being thrust into the role of hunter-gatherer. This article discusses the work done at University Library at Indiana University-Purdue University Indianapolis to provide usage statistics for all its paid subscriptions for a 3-year period. The…

  20. Metabolomic Biomarkers in Urine of Cushing’s Syndrome Patients

    Directory of Open Access Journals (Sweden)

    Alicja Kotłowska

    2017-01-01

    Full Text Available Cushing’s syndrome (CS is a disease which results from excessive levels of cortisol in the human body. The disorder is associated with various signs and symptoms which are also common for the general population not suffering from compound hypersecretion. Thus, more sensitive and selective methods are required for the diagnosis of CS. This follow-up study was conducted to determine which steroid metabolites could serve as potential indicators of CS and possible subclinical hypercortisolism in patients diagnosed with so called non-functioning adrenal incidentalomas (AIs. Urine samples from negative controls (n = 37, patients with CS characterized by hypercortisolism and excluding iatrogenic CS (n = 16, and patients with non-functioning AIs with possible subclinical Cushing’s syndrome (n = 25 were analyzed using gas chromatography-mass spectrometry (GC/MS and gas chromatograph equipped with flame ionization detector (GC/FID. Statistical and multivariate methods were applied to investigate the profile differences between examined individuals. The analyses revealed hormonal differences between patients with CS and the rest of examined individuals. The concentrations of selected metabolites of cortisol, androgens, and pregnenetriol were elevated whereas the levels of tetrahydrocortisone were decreased for CS when opposed to the rest of the study population. Moreover, after analysis of potential confounding factors, it was also possible to distinguish six steroid hormones which discriminated CS patients from other study subjects. The obtained discriminant functions enabled classification of CS patients and AI group characterized by mild hypersecretion of cortisol metabolites. It can be concluded that steroid hormones selected by applying urinary profiling may serve the role of potential biomarkers of CS and can aid in its early diagnosis.

  1. Depression, Anxiety, and Anger in Patients with Polycystic Ovary Syndrome

    Science.gov (United States)

    BALIKCI, Adem; ERDEM, Murat; KESKIN, Uğur; BOZKURT ZINCIR, Selma; GÜLSÜN, Murat; ÖZÇELIK, Fatih; AKGÜL, Emin Özgür; AKARSU, Süleyman; ÖZTOSUN, Muzaffer; ERGÜN, Ali

    2014-01-01

    Introduction Polycystic Ovary Syndrome (PCOS) is a syndrome of heterogeneous nature, affecting multiple systems, particularly the endocrine system. We propose to investigate the possible relationships among hormonal changes, levels of anxiety, depression, and anger in patients with PCOS. Method Forty-four female patients with PCOS and 44 body mass index (BMI )-matched healthy women participated in this study. We measured the sociodemographic features, some serum hormonal levels (insulin, gonadotropins, prolactin, dehydroepiandrosterone sulfate (DHEAS), thyroid-stimulating hormone (TSH), triiodothyronine (T3), thyroxine (T4), 17 OH-progesterone, and total and free testosterone), and some other biochemical parameters of the participants. Also, all participants completed the Trait Anger-Anger Expression Scale (STAS), Beck Depression, and Beck Anxiety Inventories. We evaluated the psychiatric scale scores obtained from PCOS patients and control subjects. We used the independent-samples t-test for parametric data to evaluate normal distribution, and Mann-Whitney U-test was used for both abnormally distributed and nonparametric data. We used Pearson correlation analysis to evaluate the potential connection between the two groups’ data. Results The mean ages of the patients with PCOS and control subjects who participated in this study were 27.3±5.6 and 27.4±6.1 years, respectively. The measures of BMI, insulin, luteinizing hormone (LH), DHEAS, and total testosterone serum levels in the patient group were significantly higher than in the control group (pdepression scores (Pdepression with DHEAS serum levels via the autonomic nervous system, considering the gamma-aminobutyric acid (GABA)-antagonistic effect of DHEAS. Obesity, hirsutism, and infertility may reduce self-confidence and create depressive symptoms in patients with PCOS. In addition, changes in hormonal levels may lead to anxiety directly. Possibly, depressive symptoms are a secondary reflection of these

  2. Metabolomic Biomarkers in Urine of Cushing’s Syndrome Patients

    Science.gov (United States)

    Kotłowska, Alicja; Puzyn, Tomasz; Sworczak, Krzysztof; Stepnowski, Piotr; Szefer, Piotr

    2017-01-01

    Cushing’s syndrome (CS) is a disease which results from excessive levels of cortisol in the human body. The disorder is associated with various signs and symptoms which are also common for the general population not suffering from compound hypersecretion. Thus, more sensitive and selective methods are required for the diagnosis of CS. This follow-up study was conducted to determine which steroid metabolites could serve as potential indicators of CS and possible subclinical hypercortisolism in patients diagnosed with so called non-functioning adrenal incidentalomas (AIs). Urine samples from negative controls (n = 37), patients with CS characterized by hypercortisolism and excluding iatrogenic CS (n = 16), and patients with non-functioning AIs with possible subclinical Cushing’s syndrome (n = 25) were analyzed using gas chromatography-mass spectrometry (GC/MS) and gas chromatograph equipped with flame ionization detector (GC/FID). Statistical and multivariate methods were applied to investigate the profile differences between examined individuals. The analyses revealed hormonal differences between patients with CS and the rest of examined individuals. The concentrations of selected metabolites of cortisol, androgens, and pregnenetriol were elevated whereas the levels of tetrahydrocortisone were decreased for CS when opposed to the rest of the study population. Moreover, after analysis of potential confounding factors, it was also possible to distinguish six steroid hormones which discriminated CS patients from other study subjects. The obtained discriminant functions enabled classification of CS patients and AI group characterized by mild hypersecretion of cortisol metabolites. It can be concluded that steroid hormones selected by applying urinary profiling may serve the role of potential biomarkers of CS and can aid in its early diagnosis. PMID:28146078

  3. Pharmacological Treatment of Obesity in Patients with Polycystic Ovary Syndrome

    Directory of Open Access Journals (Sweden)

    Hassan Kahal

    2011-01-01

    Full Text Available Polycystic ovary syndrome (PCOS is a common disorder affecting women of reproductive age and it is associated with increased cardiovascular risk. Obesity plays an important role in the pathogenesis of PCOS, and the majority of patients with PCOS are obese. Over the last 20 years, the prevalence of obesity has dramatically increased, with probable associated increase in PCOS. Weight reduction plays an integral part in the management of women with PCOS. In this paper, current available weight reduction therapies in the management of PCOS are discussed.

  4. Posterior reversible encephalopathy syndrome in a patient of organophosphate poisoning

    Directory of Open Access Journals (Sweden)

    Rajesh Phatake

    2014-01-01

    Full Text Available A 32-year-old male presented with a history of consuming some organophosphorous compound with suicidal intention.He was treated with atropine, pralidoxime, ventilator support. During stay patient had persistent irritability, tachycardiaand hypertension despite sedation and labetalol infusion. He developed headache, visual blurring hemiparesis and focal seizures. Magnetic resonance imaging of the brain revealed multifocal hyperintensities mainly in subcortical areas of parietal and occipital regions in T2-weighted images, with increased values of Apparent Diffusion Coefficient, suggesting posterior reversible encephalopathy syndrome (PRES. The possibilities of PRES caused by organophosphorous poisoning either due to hypertension caused by autonomic deregulation or direct neurological toxicity has been discussed.

  5. Rehabilitation of a patient with non-syndromic partial oligodontia

    Science.gov (United States)

    2016-01-01

    Oligodontia is defined as a congenital tooth agenesis with the absence of six or more permanent teeth. This clinical report describes a patient with non-syndromic partial oligodontia, with retained deciduous teeth and the absence of 16 permanent teeth. Anterior esthetic problems were caused by interarch tooth size discrepancy, interdental space, aberrant tooth dimensions, and the absence of centric contacts of the anterior teeth. Prosthetic restoration after orthodontic and implant treatment was performed with a multi-disciplinary team approach. Favorable functional and esthetic results were obtained using a definitive prosthesis. PMID:27350861

  6. Angioimmunoblastic T-Cell Lymphoma in a Patient with Klinefelter Syndrome.

    Science.gov (United States)

    Park, Yong Tae; Park, Chan-Ho; Bae, Mi Ae; Jung, Hwa Sik; Lee, Youn Im; Lim, Ji-Hun; Cha, Hee Jeong; Seo, Min Jung; Park, Seol Hoon; Choi, Yunsuk; Kim, Hawk; Jo, Jae-Cheol

    2016-07-25

    BACKGROUND Although patients with Klinefelter syndrome have elevated risk and incidence rates for several solid cancers, reports on the incidence of hematological malignancies have been equivocal. CASE REPORT We report a patient diagnosed with angioimmunoblastic T-cell lymphoma in whom Klinefelter syndrome was newly detected. Moreover, we discuss the development of a variety of lymphomas in patients with Klinefelter syndrome. CONCLUSIONS This is the first case describing angioimmunoblastic T-cell lymphoma in a patient with Klinefelter syndrome who was treated with chemotherapy.

  7. Cystic lung disease in birt-hogg-dubé syndrome: a case series of three patients.

    Science.gov (United States)

    Kilincer, Abidin; Ariyurek, Orhan Macit; Karabulut, Nevzat

    2014-06-01

    Birt-Hogg-Dubé syndrome is characterized by clinical manifestations such as hamartomas of the skin, renal tumors and lung cysts with spontaneous pneumothoraces. Patients with Birt-Hogg-Dubé syndrome may present with only multiple lung cysts. We report the chest computerized tomography (CT) features of three patients with Birt-Hogg-Dubé syndrome. Each patient had multiple lung cysts of various sizes according to chest CT evaluation, most of which were located in lower lobes and related to pleura. The identification of unique characteristics in the chest CT of patients with Birt-Hogg-Dubé syndrome may provide an efficient mechanism for diagnosis.

  8. Current Hypotheses on How Microsatellite Instability Leads to Enhanced Survival of Lynch Syndrome Patients

    Directory of Open Access Journals (Sweden)

    Kristen M. Drescher

    2010-01-01

    Full Text Available High levels of microsatellite instability (MSI-high are a cardinal feature of colorectal tumors from patients with Lynch Syndrome. Other key characteristics of Lynch Syndrome are that these patients experience fewer metastases and have enhanced survival when compared to patients diagnosed with microsatellite stable (MSS colorectal cancer. Many of the characteristics associated with Lynch Syndrome including enhanced survival are also observed in patients with sporadic MSI-high colorectal cancer. In this review we will present the current state of knowledge regarding the mechanisms that are utilized by the host to control colorectal cancer in Lynch Syndrome and why these same mechanisms fail in MSS colorectal cancers.

  9. Lenalidomide and Dexamethasone for a Patient of POEMS Syndrome Presenting with Massive Ascites

    OpenAIRE

    Shuji Ueda; Sayoko Yonemoto; Kazumasa Oka; Naohiko Fujii; Keiichi Nakata; Hitomi Matsunaga; Seiko Kataoka; Yuki Iwama; Hiroyuki Narahara; Yuichi Yasunaga; Yoshiaki Inui; Sumio Kawata

    2014-01-01

    POEMS syndrome is a multisystem disorder characterized by polyneuropathy, organomegaly, endocrinopathy, monoclonal gammopathy, and skin changes. POEMS syndrome is a rare cause of refractory ascites. We report the case of a patient with POEMS syndrome presenting with massive ascites who was treated with very-low-dose lenalidomide and dexamethasone. A 57-year-old Japanese man was admitted to our hospital with pleural effusion, massive ascites, and leg edema. The diagnosis of POEMS syndrome was ...

  10. Gestational, perinatal and family findings of patients with Patau syndrome

    Directory of Open Access Journals (Sweden)

    Rafael Fabiano M. Rosa

    2013-12-01

    Full Text Available OBJECTIVE: To describe gestational, perinatal and family findings of patients with Patau syndrome (PS. METHODS: The study enrolled patients with PS consecutively evaluated during 38 years in a Clinical Genetics Service of a pediatric referral hospital in Southern Brazil. The clinical data and the results of cytogenetic analysis were collected from the medical records. For statistical analysis, the two-tailed Fisher's exact test and the chi-square test with Yates' correction were used, being significant p<0.05. RESULTS: The sample was composed of 27 patients, 63% were male, with a median age of nine days at the first evaluation. Full trisomy of chromosome 13 was the main cytogenetic finding (74%. Only six patients were submitted to obstetric ultrasound and none had prenatal diagnosis of PS. The patients' demographic characteristics, compared to born alive infants in the same Brazilian state showed a higher frequency of: mothers with 35 years old or more (37.5%; multiparous mothers (92.6%; vaginal delivery (77%; preterm birth (34.6%; birth weight <2500g (33.3%, and Apgar scores <7 in the 1st (75% and in the 5th minute (42.9%. About half of them (53% died during the first month of life. CONCLUSIONS: The understanding of the PS patients' gestational, perinatal and family findings has important implications, especially on the decision about the actions to be taken in relation to the management of these patients.

  11. Gestational, perinatal and family findings of patients with Patau syndrome.

    Science.gov (United States)

    Rosa, Rafael Fabiano M; Sarmento, Melina Vaz; Polli, Janaina Borges; Groff, Daniela de Paoli; Petry, Patrícia; Mattos, Vinícius Freitas de; Rosa, Rosana Cardoso M; Trevisan, Patrícia; Zen, Paulo Ricardo G

    2013-12-01

    To describe gestational, perinatal and family findings of patients with Patau syndrome (PS). The study enrolled patients with PS consecutively evaluated during 38 years in a Clinical Genetics Service of a pediatric referral hospital in Southern Brazil. The clinical data and the results of cytogenetic analysis were collected from the medical records. For statistical analysis, the two-tailed Fisher's exact test and the chi-square test with Yates' correction were used, being significant p<0.05. The sample was composed of 27 patients, 63% were male, with a median age of nine days at the first evaluation. Full trisomy of chromosome 13 was the main cytogenetic finding (74%). Only six patients were submitted to obstetric ultrasound and none had prenatal diagnosis of PS. The patients' demographic characteristics, compared to born alive infants in the same Brazilian state showed a higher frequency of: mothers with 35 years old or more (37.5%); multiparous mothers (92.6%); vaginal delivery (77%); preterm birth (34.6%); birth weight <2500g (33.3%), and Apgar scores <7 in the 1st (75%) and in the 5th minute (42.9%). About half of them (53%) died during the first month of life. The understanding of the PS patients' gestational, perinatal and family findings has important implications, especially on the decision about the actions to be taken in relation to the management of these patients.

  12. Do patients with Down's syndrome recognize Mickey Mouse?

    Science.gov (United States)

    Kakigi, R; Neshige, R; Matsuda, Y; Kuroda, Y

    1994-01-01

    In 47 patients with Down's syndrome who were too retarded to understand a conventional oddball paradigm, we studied event-related potentials (ERPs) by using task-irrelevant visual stimuli. As the patients had expressed interest in Disney cartoons and books, five pictures of Disney characters such as Mickey Mouse or Peter Pan were employed as the rare stimuli, and nine ordinary scenes such as mountains as the frequent stimuli. Five sets were constructed by intermingling each rare picture with nine frequent pictures, and each picture was presented on a TV screen. ERPs to the rare stimuli (N270-P380), which were different from the averaged waveforms to frequent stimuli and electrooculograms (EOGs), were clearly recorded in 35 out of 47 patients. Only 24 of these patients had ERPs using a conventional auditory oddball paradigm. The peak latencies in patients were significantly prolonged relative to age-matched normal controls, probably due to a slowed neural processing. The amplitude in patients was slightly larger than normal controls, probably due to the patients' greater interest or surprise when confronted with the Disney characters.

  13. [General anesthesia for a pregnant patient with PAPA syndrome].

    Science.gov (United States)

    Ohno, Seika; Ariyama, Jun; Tsujita, Miki; Ueshima, Hironobu; Imanishi, Hirokazu; Terao, Kazuhisa; Mieda, Tsutomu; Kitamura, Akira

    2014-08-01

    A 31-year-old female, with 22 weeks of pregnancy, presented with sudden onset of severe headache. CT scan showed diffuse subarachnoid hemorrhage. A cerebral angiogram showed dissecting aneurysm of right cerebral artery. To obliterate the aneurysm and prevent rupture, the patient underwent coil embolization via an endovascular approach under general anesthesia because the procedure under sedation with local anesthesia was too risky for re-bleeding. The patient has been diagnosed as PAPA syndrome. Although the arthritis was now stable and she was taking no drug, remarkable osteoarthritis was observed. The cervical spine X ray demonstrated no cervical ankylosis. As patient was sedated with propofol, airway examination could not be done except noticing thyromental distance of seven centimeters. Patient's trachea was intubated using Macintosh size #3 laryngoscope blade and a 7.0 non-styletted tracheal tube at the first attempt without any problems (Cormack grade I). Anesthesia was maintained with sevoflurane, fentanyl and remifentanil. After the end of endovascular surgery, the patient was transferred to the intensive care unit under mechanical ventilation. She was weaned from mechanical ventilation 2 days later but consciousness was unclear. Right incomplete paralysis was also observed. MRI revealed vasospasm on the bilateral internal carotid artery. The patient underwent percutaneous tansluminalangioplasty coil and intraarterial injection of fasudil hydrochloride under local anesthesia. The consciousness recovered fully and the paralysis was improved. The patient delivered the baby by Caesarean sections under combined spinal and epidural anesthesia at 36 weeks without any problems with both the mother and baby.

  14. Nutrition and fluid optimization for patients with short bowel syndrome.

    Science.gov (United States)

    Matarese, Laura E

    2013-03-01

    Short bowel syndrome (SBS) is characterized by nutrient malabsorption and occurs following surgical resection, congenital defect, or disease of the bowel. The severity of SBS depends on the length and anatomy of the bowel resected and the health of the remaining tissue. During the 2 years following resection, the remnant bowel undergoes an adaptation process that increases its absorptive capacity. Oral diet and enteral nutrition (EN) enhance intestinal adaptation; although patients require parenteral nutrition (PN) and/or intravenous (IV) fluids in the immediate postresection period, diet and EN should be reintroduced as soon as possible. The SBS diet should include complex carbohydrates; simple sugars should be avoided. Optimal fat intake varies based on patient anatomy; patients with end-jejunostomies can tolerate a higher proportion of calories from dietary fat than patients with a remnant colon. Patients with SBS are prone to deficiencies in vitamins, minerals, and essential fatty acids; serum levels should be periodically monitored and supplements provided as needed. Prebiotic or probiotic therapy may be beneficial for patients with SBS, although further research is needed to determine optimal protocols. Patients with SBS, particularly those without a colon, are at high risk of dehydration; oral rehydration solutions sipped throughout the day can help maintain hydration. One of the primary goals of SBS therapy is to reduce or eliminate dependence on PN/IV; optimization of EN and hydration substantially increases the probability of successful PN/IV weaning.

  15. [Microalbuminuria in pediatric patients diagnosed with hemolytic uremic syndrome].

    Science.gov (United States)

    Cubillos C, María Paz; Del Salas, Paulina; Zambrano, Pedro O

    2015-01-01

    Hemolytic uremic syndrome (HUS) is characterized by the presence of microangiopathic hemolytic anemia, thrombocytopenia, and acute kidney failure. It is the leading cause of acute kidney failure in children under 3 years of age. A variable number of patients develop proteinuria, hypertension, and chronic renal failure. To evaluate the renal involvement in pediatric patients diagnosed with HUS using the microalbumin/creatinine ratio. Descriptive concurrent cohort study that analyzed the presence of microalbuminuria in patients diagnosed with HUS between January 2001 and March 2012, who evolved without hypertension and normal renal function (clearance greater than 90ml/min using Schwartz formula). Demographic factors (age, sex), clinical presentation at time of diagnosis, use of antibiotics prior to admission, and need for renal replacement therapy were evaluated. Of the 24 patients studied, 54% were male. The mean age at diagnosis was two years. Peritoneal dialysis was required in 45%, and 33% developed persistent microalbuminuria. Antiproteinuric treatment was introduce in 4 patients, with good response. The mean follow-up was 6 years (range 6 months to 11 years). The serum creatinine returned to normal in all patients during follow up. The percentage of persistent microalbuminuria found in patients with a previous diagnosis of HUS was similar in our group to that described in the literature. Antiproteinuric treatment could delay kidney damage, but further multicenter prospective studies are necessary. Copyright © 2015. Publicado por Elsevier España, S.L.U.

  16. Outcome of Guillain–Barre syndrome patients with respiratory paralysis

    Science.gov (United States)

    Kalita, J.; Ranjan, A.

    2016-01-01

    Background and Aims: To evaluate the outcome of patients with Guillain–Barre syndrome (GBS) having respiratory failure treated with modified intubation policy. Design and Methods: Consecutive patients with GBS having single breath count below 12 and respiratory rate >30/min were included and their clinical details noted. The patients were intubated and mechanically ventilated (MV) if their PaO2 was  50 mmHg or pH < 7.3. Their electrophysiological subtypes and complications were noted. The hospital mortality and 3 months outcome were compared in MV and those could be managed without MV even with respiratory compromise. Results: Out of 369 patients, 102 (27.6%) patients had respiratory compromise who were included in this study. Of the patients with respiratory compromise, 44 (43.1%) were intubated and mechanically ventilated after a median of 4 days of hospitalization. The median duration of MV was 21 (range 1–88) days. The patients with autonomic dysfunction (56.8% vs. 19%), facial weakness (78% vs. 36.2%), bulbar weakness (81.8% vs. 31%), severe weakness (63.8% vs. 31%) and high transaminase level (47.7% vs. 25.9%) needed MV more frequently. In our study, 6.8% patients died and 26.6% had poor outcome which was similar between MV and non-MV patients. The MV patients had longer hospitalization and more complications compared with non-MV group. Conclusion: In GBS patients with respiratory compromise, conservative intubation does not increase mortality and disability. PMID:26475599

  17. Gonadoblastoma in patients with Ullrich-Turner syndrome.

    Science.gov (United States)

    Zelaya, Gabriela; López Marti, Jessica M; Marino, Roxana; Garcia de Dávila, Maria T; Gallego, Marta S

    2015-01-01

    Ullrich-Turner syndrome (UTS) is a common chromosomal abnormality caused by partial or complete X chromosome monosomy. One half of the patients have a 45,X karyotype, whereas the remaining patients display other X chromosome anomalies. In 6% to 11% of UTS, a normal or partly deleted Y chromosome has been found. A 10% to 30% risk of developing gonadoblastoma was found in the latter patients. The aim of this study was to evaluate the prevalence of Y chromosome-derived material, the occurrence of gonadoblastoma, and the incidence of possible neoplasms in patients with UTS. Of 217 patients studied with UTS and chromosome analysis of peripheral-blood lymphocytes, Y chromosome material was found in 20 patients. Fluorescence in situ hybridization (FISH) testing was performed to characterize the structurally abnormal Y chromosome in 13 cases. Molecular analysis of the SRY gene could only be performed in 20 patients with 45,X karyotype. Two patients had the SRY genomes. Of the 20 patients with Y chromosome-derived material, 17 underwent gonadectomy. The incidence of gonadoblastoma development in our series was 35.5%. Furthermore, 1 patient also showed a pure dysgerminoma, and another showed a mixed dysgerminoma and embryonal carcinoma. We emphasize the importance of complete processing of the gonadectomy specimen, including step sections, molecular studies, and FISH, in addition to the classic cytogenetic searching for Y chromosome sequences, in patients who present with a nonmosaic 45,X karyotype. Finally, we propose to routinely collect a sample for storage in the tumor bank for future studies.

  18. Thermal hypersensitivity in a subset of irritable bowel syndrome patients

    Institute of Scientific and Technical Information of China (English)

    QiQi Zhou; Roger B Fillingim; Joseph L Riley III; G Nicholas Verne

    2009-01-01

    AIM: To characterize thermal hypersensitivity in patients with constipation- and diarrhea-predominant irritable bowel syndrome (IBS). METHODS: Thermal pain sensitivity was tested among patients with diarrhea-predominant IBS (D-IBS) and constipation-predominant IBS (C-IBS) compared to healthy subjects. A total of 42 patients (29 female and patients (16 female and eight male; mean age 32.5participated in the study. Thermal stimuli were delivered using a Medoc Thermal Sensory Analyzer with a 3 cm heat pain tolerance (HPTo) were assessed on the left ventral forearm and left calf using an ascending method of limits. The Functional Bowel Disease Severity Index (FBDSI) was also obtained for all subjects. RESULTS: Controls were less sensitive than C-IBS and D-IBS (both at P < 0.001) with no differences between C-IBS and D-IBS for HPTh and HPTo. Thermal hyperalgesia was present in both groups of IBS patients relative to controls, with IBS patients reporting significantly lower pain threshold and pain tolerance at both test sites. Cluster analysis revealed the presence of subgroups of IBS patients based on thermal hyperalgesia. One cluster (17% of the sample) showed a profile of heat pain sensitivity very similar to that of healthy controls; a second cluster (47% of the sample) showed moderate heat pain sensitivity; and a third cluster (36% of the sample) showed a very high degree of thermal hyperalgesia.CONCLUSION: A subset of IBS patients had thermal hypersensitivity compared to controls, who reported significantly lower HPTh and HPTo. All IBS patients had a higher score on the FBDSI than controls. Interestingly, the subset of IBS patients with high thermal sensitivity (36%) had the highest FBDSI score compared to the other two groups of IBS patients.

  19. Metabolic syndrome in patients with peripheral arterial disease.

    Science.gov (United States)

    Estirado, E; Lahoz, C; Laguna, F; García-Iglesias, F; González-Alegre, M T; Mostaza, J M

    2014-11-01

    The prevalence of metabolic syndrome (MS) in patients with peripheral arterial disease (PAD) and coronary or cerebrovascular disease is increasing, but it is not known whether this association also exists in patients with isolated PAD. The aim of the current study was to assess the prevalence of MS in patients with PAD who had no coronary or cerebrovascular disease, the prescription rate of evidence-based cardiovascular therapies and the attainment of therapeutic goals in patients with PAD and with and without MS. Multicenter, cross-sectional study of 3.934 patients aged ≥ 45 years with isolated PAD who were treated in primary care and specialized outpatient clinics during 2009. A diagnosis of PAD was reached for ankle brachial indices <0.9, a previous history of amputation or revascularization. In the overall population, the mean age was 67.6 years, 73.8% were males and 63% had MS (95% CI 61.5-64.3%). Patients with MS had a higher prevalence of cardiovascular risk factors and comorbidities, more severe PAD and higher prescription rate of evidence-based cardiovascular therapies. After adjusting for risk factors and comorbidity, there was a more frequent use of renin-angiotensin system blockers, beta-blockers, diuretics and statins among the patients with MS. A lower percentage of patients with MS achieved the therapeutic goals for blood pressure (22% vs. 41.5%, p<0.001). Similarly, a lower percentage of patients with diabetes achieved the glycated hemoglobin goals (44% vs. 53.1%, p<0.001), with no differences in LDL-cholesterol levels (29.8% vs. 39.1%, p=0.265). Patients with PAD have a high prevalence of MS. Patients with MS do not attain therapeutic goals as frequently as those without, despite taking more cardiovascular drugs. Copyright © 2014 Elsevier España, S.L.U. All rights reserved.

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

    Directory of Open Access Journals (Sweden)

    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.

  1. Rufinamide in patients with Lennox-Gastaut syndrome

    Directory of Open Access Journals (Sweden)

    Clark PO

    2016-11-01

    Full Text Available Peggy O Clark,1 Patricia A Gibson2 1Cincinnati Children’s Hospital Medical Center, The University of Cincinnati College of Medicine, Cincinnati, OH, 2Epilepsy Information Service, Wake Forest University School of Medicine, Winston-Salem, NC, USA Objectives: Lennox–Gastaut syndrome (LGS is an epileptic encephalopathy with an onset at the age of ~4 years. LGS is notoriously difficult to manage, as most patients experience multiple seizures per day, despite their concomitant use of several antiepileptic drugs (AEDs. Rufinamide (BANZEL® is an AED approved by the US Food and Drug Administration for the adjunctive treatment of seizures associated with LGS in pediatric patients aged ≥1 year and in adults. The expert care of nurses knowledgeable in the treatment options for LGS is valuable to patients and caregivers. This review summarizes the existing knowledge on LGS and data from clinical and real-world studies on the use of rufinamide in patients with LGS.Methods: Recent review articles and information from the Epilepsy Foundation Website were reviewed for data on LGS treatment. Primary articles on rufinamide were also selected for review.Results and conclusion: The efficacy and safety of rufinamide have been evaluated in children and adults by using double-blind, open-label, and observational studies. In general, these studies indicate that rufinamide effectively reduces the frequency and severity of multiple seizure types associated with LGS and has tolerable side effects, the most common being vomiting and somnolence. Dosing modifications based on age, weight, and concomitant AED usage are recommended for patients using rufinamide. Keywords: Lennox–Gastaut syndrome, anticonvulsants, rufinamide

  2. Electrophysiological findings of Turkish patients with restless legs syndrome

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    Özsimsek A

    2017-07-01

    Full Text Available Ahmet Özsimsek,1 Hasan Rifat Koyuncuoglu2 1Neurology Department, Uşak Medical Park Hospital, Uşak, 2Neurology Department, Medical Faculty, Süleyman Demirel University, Isparta, Turkey Abstract: We aimed to investigate changes in electrophysiological findings in Turkish patients with restless legs syndrome (RLS, including F-wave latency (FWL, peripheral silent period (PSP, and Hoffmann reflex. The study took place in a university hospital in Turkey and involved 30 newly diagnosed RLS patients and 30 healthy controls who were matched for age and gender. Participant’s demographics (age, gender, weight, and height, laboratory findings, and electrophysiological test outcomes were gathered and analyzed. There was no significant difference in the FWL of the median and ulnar nerves, whereas the H-wave maximum amplitude and H/M ratio were significantly higher in the RLS patients than in the controls at rest. All of the PSP parameters were similar between patients and controls for the abductor pollicis brevis and gastrocnemius muscles. However, for the tibialis anterior muscle, all the PSP duration parameters were shorter in the RLS patients, whereas the PSP latency parameters were similar. The data suggest that there may be a reduction in spinal segmental inhibition at the L4–L5–S1 level, but the mechanisms of inhibition at the L4–L5 and S1 levels may be different; furthermore, there may be no pathology in the peripheral nerves. Further prospective studies with larger cohorts are now needed to evaluate the pathophysiology of RLS with different neurophysiological assessment tools. Keywords: restless legs syndrome, F wave, peripheral silent period, Hoffmann reflex

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

    Directory of Open Access Journals (Sweden)

    Alice D. Chang

    2006-01-01

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

  4. Type III mixed cryoglobulinemia and antiphospholipid syndrome in a patient with partial DiGeorge syndrome.

    Science.gov (United States)

    Chang, Alice D; Tachdjian, Raffi; Gallagher, Kerry; McCurdy, Deborah K; Lassman, Charles; Stiehm, E Richard; Yadin, Ora

    2006-01-01

    We studied a 14 year-old boy with partial DiGeorge syndrome (DGS), status post complete repair of Tetralogy of Fallot, who developed antiphospholipid syndrome (APS) and type III mixed cryoglobulinemia. He presented with recurrent fever and dyspnea upon exertion secondary to right pulmonary embolus on chest computed tomography (CT). Coagulation studies revealed homozygous methylene tetrahydrofolate reductase 677TT mutations, elevated cardiolipin IgM antibodies, and elevated beta(2)-glycoprotein I IgM antibodies. Infectious work-up revealed only positive anti-streptolysin O (ASO) and anti-DNAse B titers. Autoimmune studies showed strongly positive anti-platelet IgM, elevated rheumatoid factor (RF), and positive cryocrit. Renal biopsy for evaluation of proteinuria and hematuria showed diffuse proliferative glomerulonephritis (DPGN) with membranoproliferative features consistent with cryoglobulinemia. Immunofixation showed polyclonal bands. Our patient was treated successfully with antibiotics, prednisone, and mycophenolate mofetil (MMF). This is the first report of a patient with partial DGS presenting with APS and type III mixed cryoglobulinemia possibly due to Streptococcal infection.

  5. Anticoagulant therapy in pregnant patients with metabolic syndrome: a review.

    Science.gov (United States)

    Mierzynski, Radzisław; Poniedzialek-Czajkowska, Elzbieta; Kimber-Trojnar, Zaneta; Leszczynska-Gorzelak, Bozena; Oleszczuk, Jan

    2014-01-01

    Pregnancy is a specific state of heightened coagulability related to the increase in procoagulant agents and to the reduced fibrinolysis. Pregnancy is associated with a 4-fold increased risk of developing venous thromboembolism (VTE) and this risk still increases to 14-fold during puerperium. A correlation between the metabolic syndrome and development of cardiovascular events and cerebrovascular incidents has been described. Such a relationship is referred to a hypercoagulable state due to increased serum levels of the plasminogen activator inhibitor-1 (PAI-1), fibrinogen, factor (F) VII and VIII, von Willebrand factor and from endothelial activation, caused by increased circulating adhesion molecules. As to the risk of VTE, the probability for its association with cardiovascular incidents is increased by common underlying mechanisms such as the activation of platelets and the blood coagulation. A correlation between idiopathic VTE and the metabolic syndrome has been reported. The anticoagulant therapy may be recommended during the pregnancy for the treatment or the prophylaxis of VTE and, in women with artificial heart valves, for the prevention of the valve thrombosis and systemic embolisation. There are also specific conditions during pregnancy which benefit from anticoagulant use, such as recurrent fetal loss, thrombophilia and assisted reproductive technology. There are no published specific data about using of anticoagulant agents in pregnant patients with the metabolic syndrome except for a few articles addressing reproductive problems. The mechanisms of anticoagulant action were studied with the focus on heparinoids, because of their safety not only for the patient but also for the fetus. The new oral anticoagulants were also shortly described although they have been contraindicated during the pregnancy.

  6. Identifying acute coronary syndrome patients approaching end-of-life.

    Directory of Open Access Journals (Sweden)

    Stephen Fenning

    Full Text Available BACKGROUND: Acute coronary syndrome (ACS is common in patients approaching the end-of-life (EoL, but these patients rarely receive palliative care. We compared the utility of a palliative care prognostic tool (Gold Standards Framework (GSF and the Global Registry of Acute Coronary Events (GRACE score, to help identify patients approaching EoL. METHODS AND FINDINGS: 172 unselected consecutive patients with confirmed ACS admitted over an eight-week period were assessed using prognostic tools and followed up for 12 months. GSF criteria identified 40 (23% patients suitable for EoL care while GRACE identified 32 (19% patients with ≥ 10% risk of death within 6 months. Patients meeting GSF criteria were older (p = 0.006, had more comorbidities (1.6 ± 0.7 vs. 1.2 ± 0.9, p = 0.007, more frequent hospitalisations before (p = 0.001 and after (0.0001 their index admission, and were more likely to die during follow-up (GSF+ 20% vs GSF- 7%, p = 0.03. GRACE score was predictive of 12-month mortality (C-statistic 0.75 and this was improved by the addition of previous hospital admissions and previous history of stroke (C-statistic 0.88. CONCLUSIONS: This study has highlighted a potentially large number of ACS patients eligible for EoL care. GSF or GRACE could be used in the hospital setting to help identify these patients. GSF identifies ACS patients with more comorbidity and at increased risk of hospital readmission.

  7. Cognitive Functions and Depression in Patients with Irritable Bowel Syndrome

    Directory of Open Access Journals (Sweden)

    Per G. Farup

    2015-01-01

    Full Text Available Background. Irritable bowel syndrome (IBS is associated with depression and depression with impaired cognitive functions. The primary aim was to study associations between depression and cognitive functions in patients with IBS. Methods. IBS (according to the Rome III criteria, cognitive functions (evaluated with a set of neuropsychological tests, and depression (measured with Beck Depression Inventory II and Montgomery-Åsberg Depression Scale were analysed in patients with idiopathic depression and in patients with unspecified neurological symptoms. Results. 18 and 48 patients with a mean age of 47 and 45 years were included in the “Depression” and “Neurological” group, respectively. In the “Depression” group, the degree of depression was significantly higher in patients with IBS than in those without. Depression was associated with impaired cognitive function in 6 out of 17 neuropsychological tests indicating reduced set shifting, verbal fluency, attention, and psychomotor speed. IBS was statistically significantly associated with depression but not with any of the tests for cognitive functions. Conclusions. IBS was associated with depression but not with impaired cognitive functions. Since the idiopathic depression was associated with cognitive deficits, the findings could indicate that the depression in patients with IBS differs from an idiopathic depression.

  8. Malnutrition inflammation complex syndrome in maintenance haemodialysis patients.

    Science.gov (United States)

    Dzekova, P; Nikolov, I G; Sikole, A; Grozdanovski, R; Polenaković, M H

    2005-08-01

    Malnutrition inflammation complex syndrome (MICS) occurs in maintenance haemodialysis (MHD) patients and is a strong predictor of morbidity and mortality in these patients. The aim of our study was to evaluate the influence of inflammation on the biochemical and anthropometrical parameters of the nutritional status in MHD patients. Our study was made on 154 patients (93 men and 61 women, mean age=54.7 yrs. and mean time on dialysis 84 months) over a period of 6 months. The indicator of inflammation, C-reactive protein (CRP), was measured monthly at the central laboratory by nephelometry. The assessment tools used to evaluate the influence of inflammation on the nutritional status in MHD patients were: serum albumin and cholesterol level, midarm circumference (MAC), midarm muscle circumference (MAMC), triceps skin fold thickness (TSF) and body mass index (BMI). Student's t-test was used for group mean comparison between men and women. Person's correlation r was used to determine the significance and the strength of associations. The CRP level was significantly greater in men than in women (12.9 vs. 7.97, p value of the protein catabolic rate of the patients in our study was 1.01 g/kg/d, a value that showed adequate protein intake. These findings would suggest that clinical attention to the maintenance of adequate nutrition could blunt the effects of inflammation on both somatic and visceral protein stores.

  9. Autism and behavior in adult patients with Dravet syndrome (DS).

    Science.gov (United States)

    Berkvens, J J L; Veugen, I; Veendrick-Meekes, M J B M; Snoeijen-Schouwenaars, F M; Schelhaas, H J; Willemsen, M H; Tan, I Y; Aldenkamp, A P

    2015-06-01

    Autism and behavioral characteristics in adults with Dravet syndrome (DS) have rarely been systematically studied. Three scales were used to assess the outcomes of DS in adulthood in terms of autism and behavior. All the adult patients with DS, nine male and four female, aged between 18 and 60 years, living at the Epilepsy Center Kempenhaeghe in The Netherlands were included in the study. In addition, the past medical history of each patient was systematically screened for diagnoses like autism, Pervasive Development Disorder-Not Otherwise Specified (PDD-NOS), autism spectrum disorder (ASD), hyperactivity, Attention Deficit Hyperactivity Disorder (ADHD), and self-mutilation. Information concerning past and current use of psychoactive drugs was also evaluated. Eight patients (61.5%) were classified as having autism spectrum disorder (ASD) according to the AVZ-R or according to the medical record. Self-mutilation was seen in four patients (30.8%), hyperactivity in none. Three patients (23.1%) currently used psychoactive drugs. Autism spectrum disorders persist in adult patients with DS, while certain characteristics associated with behavioral problems, such as hyperactivity or use of psychoactive medication, seem to be less prominent than in childhood. Copyright © 2015 Elsevier Inc. All rights reserved.

  10. Remarkable Hematological Laboratory Findings in Patients with Fibromyalgia Syndrome

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    Selçuk Sayılır

    2016-12-01

    Full Text Available Objective: In our study, we examined the role of mean platelet volume (MPV and red blood cell distribution width (RDW values with certain laboratory findings in Fibromyalgia syndrome (FMS. This study is the first study which evaluates the relationship between MPV and RDW values in FMS patients. Materials and Methods: The study consisted of two groups; study group (n=36; FMS patients and control group (n=36. Patients not having hypertension, hypercholesterolaemia or diabetes, chronic inflammatory disease, history of thrombotic disease or not receiving anticoagulant agents, and as well as patients having body mass index of <30 kg/m2 were included in the study. Data were examined via computer-based software programs, retrospectively. Results: The study population consisted of 36 female FMS patients and 36 female control individuals. The mean ages of the patients in FMS and control groups were 44.6 years 42.5 years, respectively. There were not significant statistical differences between the groups in terms of hemoglobin levels, hematocrit levels, mean erythrocyte volume, platelet count, and RDW and MPV values. On the other hand, the RDW values were found to be statistically significant between the groups. Conclusion: The present study demonstrated that MPV levels were not significantly higher between the groups; however, statistically significant values of RDW might be considered in clinical practice.

  11. Restless Legs Syndrome in Patients With Chronic Kidney Disease.

    Science.gov (United States)

    Novak, Marta; Winkelman, John W; Unruh, Mark

    2015-07-01

    Symptoms of restless legs syndrome (RLS) are common in patients with chronic kidney disease (CKD) on dialysis; symptoms of RLS are estimated to affect up to 25% of patients on dialysis when the international RLS diagnostic criteria are applied. RLS is a neurologic disorder with a circadian rhythmicity characterized by an overwhelming urge to move the legs during rest, which can be relieved temporarily by movement. RLS has been associated with an increase in sleep disturbance, higher cardiovascular morbidity, decreased quality of life, and an increased risk of death in patients with CKD. Although the exact pathophysiology of RLS is unknown, it is thought to involve an imbalance in iron metabolism and dopamine neurotransmission in the brain. The symptoms of moderate to severe RLS can be treated with several pharmacologic agents; however, data specific to patients on dialysis with RLS are lacking. The purpose of this article is to examine the relationship between, and complications of, RLS and CKD both in dialysis and nondialysis patients, and discuss the treatment options for patients on dialysis with RLS. Copyright © 2015. Published by Elsevier Inc.

  12. Communication preferences in patients with fibromyalgia syndrome: descriptive results and patient characteristics as predictors

    Directory of Open Access Journals (Sweden)

    Ullrich A

    2014-01-01

    Full Text Available Antje Ullrich, Johannes Hauer, Erik Farin Medical Center, University of Freiburg, Institute for Quality Management and Social Medicine, Freiburg, Germany Background: Communication with patients with fibromyalgia syndrome (FMS is often considered difficult. The primary objective of this explorative study was to describe the communication preferences of FMS patients in comparison with other chronic diseases, and the secondary objective was to identify patient-related predictors of those communication preferences. Methods: A total of 256 FMS patients were asked to fill out the KOPRA [(Kommunikationspraeferenzen, communication preferences of patients with chronic illness] questionnaire at the beginning of their rehabilitation, answering questions about their communication preferences. The KOPRA’s descriptive parameters were calculated and compared with other diagnosis groups. In order to include as many influencing factors as possible, data on patient-related sociodemographic, medical, pain impact and psychologic variables were gathered. A hierarchical regression analysis with four steps was performed to identify patient-related predictors of patients’ communication preferences. Results: FMS patients consider an open and patient-centered communication style to be especially important. Emotionally supportive communication and communication about personal circumstances are important for FMS patients, but the preferences of individual patients vary widely. FMS patients reveal higher values in all the subdimensions of communication preferences compared with patients with low back pain or chronic ischemic heart disease. Only a few variables appear to predict patient communication preferences. The explained variance ranged from 3.1% to 9.7%. Psychologic variables have been identified as predictors in conjunction with all communication preferences. Conclusion: Health care providers who communicate with FMS patients should employ an open and patient

  13. [COMPREHENSIVE DIAGNOSTICS IN PATIENTS WITH GENOTYPE 47,XXY KLINEFELTER SYNDROME].

    Science.gov (United States)

    Akbarova, G A

    2016-01-01

    We undertook biochemical, hormonal, cytological analysis and sequencing CAG repetitions of androgen receptor gene in order to elucidate the cause of clinical polymorphism of Klinefelter syndrome. Elevated levels of LH (19.8 ± 4.2 E/l), FSH (22.7 ± 6.1 U/l), total cholesterol (6.8 ± 2.6 mmol/l), triglycerides (3.3 ± 1.0 mmol/l), and glucose (9.9 ± 3.8 mmol/l) suggested disturbances of lipid and carbohydrate metabolism. Two thirds of the patients had Klinfelter syndrome associated with mental retardation and psychic disorders. Patients with cleft palate and mental retardation and with psycho-social disorders had 45 and 43 CA G repetitions respectively, those without associations 38-40 repetitions. Increased frequency of CAG repetitions was directly proportional to the level ofpsychic development, social adaptation and professional activity but inversely proportional to the development of masculine sexual traits.

  14. Hearing loss among patients with Turner's syndrome: literature review

    Directory of Open Access Journals (Sweden)

    Cresio Alves

    2014-06-01

    Full Text Available INTRODUCTION: Turner's syndrome (TS is caused by a partial or total deletion of an X chromosome, occurring in 1:2,000 to 1:5,000 live born females. Hearing loss is one of its major clinical manifestations. However, there are few studies investigating this problem. OBJECTIVES: To review the current knowledge regarding the epidemiology, etiology, clinical manifestations and diagnosis of hearing impairment in patients with TS. METHODS: A bibliographic search was performed in the Medline and Lilacs databanks (1980-2012 to identify the main papers associating Turner's syndrome, hearing impairment and its clinical outcomes. CONCLUSIONS: Recurrent otitis media, dysfunction of the Eustachian tube, conductive hearing loss during infancy and sensorineural hearing loss in adolescence are the audiologic disorders more common in ST. The karyotype appears to be important in the hearing loss, with studies demonstrating an increased prevalence in patients with monosomy 45,X or isochromosome 46,i(Xq. Morphologic studies of the cochlea are necessary to help out in the clarifying the etiology of the sensorineural hearing loss.

  15. Chest wall reconstruction in a patient with Cantrell syndrome.

    Science.gov (United States)

    Mitsukawa, Nobuyuki; Yasunaga, Hiroshi; Tananari, Yoshifumi

    2009-06-01

    Cantrell syndrome is a very rare congenital anomaly with up to five features: a midline, upper abdominal wall abnormality, lower sternal defect, anterior diaphragmatic defect, diaphragmatic pericardial defect, and congenital abnormalities of the heart. This report describes our experience of performing a reconstruction of a chest wall defect in a Cantrell syndrome case with herniation of the heart. The patient was a 1-month-old female infant who received surgical patch repair of a ventricular septal defect (VSD) and atrial septal defect (ASD) at the Department of Cardiac Surgery. Subsequently, the patient underwent reconstruction at the second-stage surgery. A rhomboid skin flap with an inferior pedicle was used to close the defect. In this process the flap, including portions of the rectus abdominis muscles, was elevated and transferred into the defect. The sectioned ends of the divided pectoralis major muscles were sutured together to simultaneously reconstruct the muscles. It has been 2 years since the surgery, and the defect is covered with normal skin, and the protrusion of the heart from the chest wall and the externally visible pulsation have been resolved. The progress has been very good functionally and cosmetically.

  16. Surgical Treatment of Chronic Exertional Compartment Syndrome in Pediatric Patients.

    Science.gov (United States)

    Beck, Jennifer J; Tepolt, Frances A; Miller, Patricia E; Micheli, Lyle J; Kocher, Mininder S

    2016-10-01

    Chronic exertional compartment syndrome (CECS) is a cause of leg pain in running athletes and is treated with fasciotomy after failure of nonoperative management. CECS is being seen with increased frequency in younger patients. The demographics and outcomes of fasciotomy for CECS in pediatric patients, including risk factors for treatment failure, have not been described. To describe characteristics of pediatric patients with CECS and determine surgical outcomes of the condition in this population. Case series; Level of evidence, 4. A retrospective review was performed for patients 18 years and younger treated surgically for CECS with compartment release at a single institution from 1995 to 2014. Demographic and condition characteristics, operative procedure, postoperative course, and clinical outcomes were recorded for 286 legs of 155 patients. Compartment pressure testing using the Pedowitz criteria confirmed the diagnosis in all patients. A total of 155 patients were included in the study (average patient age at presentation, 16.4 ± 1.38 years); 136 (88%) were female. All 155 patients presented with leg pain; of these patients, 8 (5%) also had neurologic symptoms, and 131 (85%) presented with bilateral symptoms requiring bilateral compartment release. Symptoms were chronic in nature, with duration over 1 year in 63% of patients. The primary sport was most commonly reported as running (25%), soccer (23%), or field hockey (12%); 50% of patients were multisport athletes. Of 286 legs, 138 (48%) had only anterior and/or lateral compartments released, while 84 (29.4%) had all 4 compartments released. Documented return to sport was seen in 79.5% of patients. Outcomes analysis was performed for 250 of 286 legs. Of these 250 legs, 47 (18.8%) had recurrent CECS requiring reoperation at a median of 1.3 years (interquartile range, 0.8-3.5) after initial compartment release. For each additional month between presentation and release, the odds of recurrence decreased by 12

  17. Neuroticism and maladaptive coping in patients with functional somatic syndromes

    DEFF Research Database (Denmark)

    Pedersen, Heidi Frølund; Frostholm, Lisbeth; Jensen, Jens Søndergaard

    2016-01-01

    Objectives. The cognitive-behavioural model of functional somatic syndromes (FSS) proposes a multifactorial aetiology consisting of predisposing, precipitating and perpetuating factors. In this study, we sought to investigate three questions that can be drawn from this model: (1) Do patients...... with FSS show high levels of neuroticism? (2) Does neuroticism affect physical health and social functioning, either directly or indirectly through maladaptive coping? (3) Does more adaptive coping mediate the effect of cognitive-behavioural therapy (CBT) on outcome? Design. Secondary analysis...... measured with SF-36) from an RCT comparing group CBT with enhanced usual care in 120 patients with a range of FSS. Neuroticism was measured at referral, while coping and outcomes were measured at referral, baseline, 4 and 16 months after randomization. Our hypotheses were explored through a series of cross...

  18. A case of progeria syndrome treated as VIP patient

    Directory of Open Access Journals (Sweden)

    Seema Mahant, Mahant PD, C.M. Reddy

    2014-11-01

    Full Text Available Progeria is rare autosomal recessive genetic disease with an incidence of about one in eight million. He was 16 years old boy lying on the couch. He was short stature thin with minimal subcutaneous tissue, skin was thin and fragile with loss of hair over scalp, eyebrows and eyelashes, and his face was dismorphic with prominent eyes, beaked nose, small jaw and large cranium with visible veins over it. His voice was thin and high pitched. Overall, this gives them an extremely aged nearly 70 -80 years old man look. The patient was a known case of progeria syndrome and he was treated as a VIP patient by all faculty members and staff, though he belongs low socioeconomic status, no political issue with them. But still he was a VIP.

  19. Unexplained lymphadenopathies: autoimmune lymphoproliferative syndrome in an adult patient.

    Science.gov (United States)

    Leal-Seabra, Fatima; Costa, Gonçalo Sarmento; Coelho, Henrique Pereira; Oliveira, Agripino

    2016-12-15

    Autoimmune lymphoproliferative syndrome (ALPS) is characterised by massive enlargement of the lymphoid organs, autoimmune cytopenias and a predisposition to develop lymphoid malignancies. The basic defect is a disturbance of the lymphocyte apoptosis, and a high number of circulating TCRab CD3(+)CD4(-)CD8(-) T-cells (double-negative T cells (DNT cells)). We describe a case of a 41-year-old man with fever, hepatosplenomegaly, multiple lymphadenopathy, autoimmune haemolytic anaemia and severe thrombocytopenia. Peripheral blood immunophenotyping revealed elevation of the characteristic DNT cells in 8% and high levels of interleukin 10. Histopathological analysis of lymph nodes showed lymphadenitis with paracortical hyperplasia. It was assumed as a probable diagnosis of ALPS, and the procedure was to medicate the patient with steroids. As a result, a significant clinical improvement was achieved, and he has been in remission for 2 years. To our knowledge, this is the first case reported in a Portuguese adult patient.

  20. Complete vaginal outlet stenosis in a patient with Sheehan's syndrome.

    Science.gov (United States)

    Choo, Minji; Park, Hana; Yi, Kyong Wook

    2016-11-01

    We present a case of complete vaginal stenosis in a woman diagnosed with Sheehan's syndrome. The patient delivered at full-term 5 months prior, and experienced massive postpartum bleeding at that time. During evaluation of persistent amenorrhea, we found that her vaginal orifice was completely adhesive and obstructed. Prior to corrective surgery, we managed the patient with an oral contraceptive to induce uterine bleeding into the vaginal outflow tract. After three cycles of an oral contraceptive, we could confirm that there was no stenotic lesion in the vaginal cavity as a hematocolpos was created. Adhesiolysis with scar revision for the vaginal stenosis was successfully performed; it was found that the lesion was limited to only the distal part of the vaginal outlet. Complete vaginal stenosis in reproductive age women with hypopituitarism has not been reported. The artificial induction of hematometrocolpos before surgery was useful in determining the extent of the stenotic lesion, and assured safety.

  1. Toxic shock and Down syndromes in a dental patient: a case report and review of the literature.

    Science.gov (United States)

    Navazesh, M; Mulligan, R; Sobel, S

    1994-01-01

    A literature review of Toxic Shock Syndrome is presented, including epidemiology, etiology, signs, symptoms and management, and its relationship to infection susceptibility in the Down Syndrome patient. A case of a Down Syndrome patient with Toxic Shock Syndrome is described, and the role of odontogenic infection is discussed.

  2. Short bowel syndrome presenting with re-feeding syndrome in a Han Chinese patient: a case report

    Directory of Open Access Journals (Sweden)

    Xie Ying

    2012-05-01

    Full Text Available Abstract Introduction Re-feeding syndrome is common in patients with long-term starvation. To the best of our knowledge this case is the first to report a patient with short bowel syndrome developing re-feeding syndrome 12 years after the bowel resection. Case presentation A 33-year-old Chinese Han man underwent small bowel resection leaving only 40 cm of bowel, without an ileocecal valve, 12 years previously. At that time he was weaned from total parenteral nutrition and had a normal diet. He later developed features of severe malnutrition, and when parenteral nutrition was given, he developed re-feeding syndrome. Conclusion Although re-feeding syndrome is a common complication in patients with any kind of nutritional support, and known to us for many years, high risk patients still need more attention and monitoring. Re-feeding syndrome in this case was not only a macronutrients deficiency but also a micronutrient deficient, and prompt supplement therapy and organ function support proved to be successful.

  3. Prevalence of Asperger syndrome among patients of an Early Intervention in Psychosis team.

    Science.gov (United States)

    Davidson, Conor; Greenwood, Nick; Stansfield, Alison; Wright, Stephen

    2014-05-01

    There is a lack of systematic studies into comorbidity of Asperger syndrome and psychosis. To determine the prevalence of Asperger syndrome among patients of an early intervention in psychosis service. This study was a cross-sectional survey consisting of three phases: screening, case note review and diagnostic interviews. All patients on caseload (n = 197) were screened using the Autism Spectrum Disorder in Adults Screening Questionnaire. The case notes of patients screened positive were then reviewed for information relevant to Asperger syndrome. Those suspected of having Asperger syndrome were invited for a diagnostic interview. Thirty patients were screened positive. Three of them already had a diagnosis of Asperger syndrome made by child and adolescent mental health services. After case note review, 13 patients were invited to interview. Four did not take part, so nine were interviewed. At interview, four were diagnosed with Asperger syndrome. In total, seven patients had Asperger syndrome. Thus, the prevalence rate in this population is at least 3.6%. The results suggest that the prevalence of Asperger syndrome in first-episode psychosis is considerably higher than that in the general population. Clinicians working in early intervention teams need to be alert to the possibility of Asperger syndrome when assessing patients. © 2013 Wiley Publishing Asia Pty Ltd.

  4. Metabolic Syndrome and Physical Activity in Hemodialysis Patients

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    derya atik

    2014-06-01

    Full Text Available Purpose: This descriptive study was carried out to reveal the level of physical activity in patients who receive hemodialysis due to chronic kidney failure and to identify its relationship with the prevalence of metabolic syndrome (MetS. Material and method: The study was conducted with 55 patients at the hemodialysis units of Alanya State Hospital and Private Alanya Anadolu Hospital between 10 and 30 June 2013. The study data were collected using the National Cholesterol Education Program, the Adult Treatment Panel III (NCEP-ATP III, a data collection form containing Metabolic Syndrome Diagnosis Criteria, and the International Physical Activity Questionnaire (IPAQ. The data were analyzed using arithmetic mean +/- standard deviation (SD, number and percentage distributions, independent sample t test, crosstabs, One Way Anova, and Pearson and #8217;s Correlation Analysis. Conclusion and suggestions: It was found that 41.8% of the patients were between 50 and 65 years of age, the majority of them were male (58.2%, hemodialysis had been administered to 69.1% of them for at least 36 months, and 50.9% of them met three and more of the MetS criteria. There was no statistically significant relationship between MetS and physical activity levels, but the length of physical activity was longer in those who did not meet the MetS diagnosis criteria (p>0.05. An increase in sedentary time raised the MetS criteria (p<0.05. Conclusion: Nearly 1/2 of the patients were at risk of MetS. Physical activity level being statistically ineffective on MetS can be associated with low physical activity level and longer sedentary time. It can be said that being completely sedentary increases BMI and therefore MetS. The study can be repeated on different samples and the results can be compared. [J Contemp Med 2014; 4(2.000: 69-75

  5. Fatal outcome after renal transplant in a pediatric patient with Noonan syndrome.

    Science.gov (United States)

    Araz, Coskun; Kaval, Ebru; Torgay, Adnan; Moray, Gokhan; Haberal, Mehmet

    2015-04-01

    Noonan syndrome is a congenital, common, hereditary disorder. Facial dysmorphism, growth retardation, and various heart defects are typical clinical features. In patients with minor cardiac pathology, life expectancy is normal. We report a case of renal transplant in a pediatric patient with Noonan syndrome that ended with death of the patient. Our patient presented with unexpected and refractory postoperative neurological complications that were unresponsive to intensive therapy, and the patient died because of secondary complications.

  6. Admission glycaemia and outcome in patients with acute coronary syndrome.

    Science.gov (United States)

    Müdespacher, Damaris; Radovanovic, Dragana; Camenzind, Edoardo; Essig, Manfred; Bertel, Osmund; Erne, Paul; Eberli, Franz Robert; Gutzwiller, Felix

    2007-12-01

    Some studies of patients with acute myocardial infarction have reported that hyperglycaemia at admission may be associated with a worse outcome. This study sought to evaluate the association of blood glucose at admission with the outcome of unselected patients with acute coronary syndrome (ACS). Using the Acute Myocardial Infarction and unstable angina in Switzerland (AMIS Plus) registry, ACS patients were stratified according to their blood glucose on admission: group 1: 2.80-6.99 mmol/L, group 2: 7.00-11.09 mmol/L and group 3: > 11.10 mmol/L. Odds ratios for in-hospital mortality were calculated using logistic regression models. Of 2,786 patients, 73% were male and 21% were known to have diabetes. In-hospital mortality increased from 3% in group 1 to 7% in group 2 and to 15% in group 3. Higher glucose levels were associated with larger enzymatic infarct sizes (p<0.001) and had a weak negative correlation with angiographic or echographic left ventricular ejection fraction. High admission glycaemia in ACS patients remains a significant independent predictor of in-hospital mortality (adjusted OR 1.08; 95% confidence intervals [CI] 1.05-1.14, p<0.001) per mmol/L. The OR for in-hospital mortality was 1.04 (95% CI 0.99-1.1; p=0.140) per mmol/L for patients with diabetes but 1.21 (95% CI 112-1.30; p<0.001) per mmol/L for non-diabetic patients. In conclusion, elevated glucose level in ACS patients on admission is a significant independent predictor of in-hospital mortality and is even more important for patients who do not have known diabetes.

  7. Prevalence of hematological abnormalities in patients with Sheehan's syndrome: response to replacement of glucocorticoids and thyroxine.

    Science.gov (United States)

    Laway, Bashir Ahmad; Mir, Shahnaz Ahmad; Bashir, Mir Iftikhar; Bhat, Javid Rasool; Samoon, Jeelani; Zargar, Abdul Hamid

    2011-03-01

    Anemia and other hematological abnormalities are common in patients with Sheehan's syndrome. The response of these abnormalities to replacement of thyroxine and glucocorticoids is not clear. The aim of the present study was to document the profile of hematological abnormalities and response to treatment in patients with Sheehan's syndrome. Forty patients of Sheehan's syndrome and an equal number of age and parity matched healthy controls were studied for prevalence of hematological abnormalities. Hemoglobin concentration, hematocrit, red cell, white cell and platelet count were significantly decreased in patients with Sheehan's syndrome compared to controls. Frequency of anemia, leucopenia, thrombocytopenia and pancytopenia was significantly higher in these patients compared to controls. After achieving euthyroid and eucortisol state, there was a complete recovery of these hematological abnormalities. We conclude that anemia and other cytopenias are common in patients with Sheehan's syndrome and replacement with thyroxine and glucocorticoids results in complete recovery of these abnormalities.

  8. ROLE FAILURE CORRECTION OF 25(OH)D IN PATIENTS WITH POLYCYSTIC OVARY SYNDROME

    OpenAIRE

    2015-01-01

    Objective. To estimate the correction failure 25 (OH) D in patients with polycystic ovary syndrome.Material and Methods. The study involved 44 patients with polycystic ovary syndrome, aged 31.32 ± 5.05, who were randomly assigned to 2 groups: 1st – obtained coca biguanides and Kolekaltsiferol, second – combined oral contraceptive (combined hormonal ) and biguanides. The comparison group consisted of 22 healthy women matched for age and sex. Polycystic Ovarian Syndrome (PCOS) was verified on t...

  9. Dental findings in patients with West syndrome: a report of two cases.

    Science.gov (United States)

    Khatri, Amit; Kalra, Namita; Tyagi, Rishi; Baweja, Mani; Khandelwal, Deepak

    2014-01-01

    West syndrome a rare, severe form of epilepsy occurs in early infancy. It is characterized by a triad consisting of infantile spasms that occurs in clusters, arrest of psychomotor development and hypsarrhythmia on electroencephalogram. We present here two cases of west syndrome where patients required dental care due to the presence of certain dental findings. Preventive measurements such as controlled diet and proper oral hygiene along with professional dental management are recommended in patients with west syndrome to avoid dental problems.

  10. Globus Pallidus Interna Deep Brain Stimulation in a Patient with Medically Intractable Meige Syndrome

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    Dae-Woong Bae

    2014-10-01

    Full Text Available Medical therapies in patients with Meige syndrome, including botulinum toxin injection, have been limited because of incomplete response or adverse side effects. We evaluated a patient with Meige syndrome who was successfully treated with deep brain stimulation (DBS in the globus pallidus interna (GPi. This case report and other previous reports suggest that bilateral GPi DBS may be an effective treatment for medically refractory Meige syndrome, without significant adverse effects.

  11. Glidescope Video Laryngoscope Use for Tracheal Intubation in a Patient with CHARGE Syndrome

    OpenAIRE

    Sarıçiçek, Vahap; Mızrak, Ayşe; Şahin, Mehrican; GÖKSU, Sıtkı; Gül, Rauf; Cesur, Mehmet

    2014-01-01

    CHARGE syndrome is an autosomal dominant syndrome in which ocular coloboma (C), heart defects (H), choanal atresia (A), growth retardation (R), genital hypoplasia (G), ear abnormalities (E), and tracheoesophageal fistula, dysphagia, cleft palate, micrognathia, facial paralysis, hypopituitarism, and brain abnormalities may be seen in patients. The patients with CHARGE syndrome face surgical procedures many times from birth. Especially, the problems we meet in the airway may be special. In this...

  12. Y chromosome microdeletions in azoospermic patients with Klinefelter's syndrome

    Institute of Scientific and Technical Information of China (English)

    Anurag Mitra; Rima Dada; Rajeev Kumar; Narmada Prasad Gupta; Kiran Kucheria; Satish Kumar Gupta

    2006-01-01

    Aim: To study the occurrence of Y chromosome microdeletions in azoospermic patients with Klinefelter's syndrome (KFS). Methods: Blood and semen samples were collected from azoospermic patients with KFS (n = 14) and a control group of men of proven fertility (n = 13). Semen analysis was done according to World Health Organization (WHO) guidelines. Blood samples were processed for karyotyping, fluorescent in situ hybridization (FISH) and measurement of plasma follicle stimulating hormone (FSH) by radioimmunoassay. To determine Y chromosome microdeletions, polymerase chain reaction (PCR) of 16 sequence tagged sites (STS) and three genes (DFFRY, XKRY and RBM1 Y) was performed on isolated genomic DNA. Testicular fine needle aspiration cytology (FNAC) was done in selected cases. Results: Y chromosome microdeletions spanning the azoospermia factor (AZF)a and AZFb loci were found in four of the 14 azoospermic patients with KFS. Karyotype and FISH analysis revealed that, of the four cases showing Y chromosome microdeletion, three cases had a 47,XXY/46,XY chromosomal pattern and one case had a 46,XY/47,XXY/48,XXXY/48,XXYY chromosomal pattern. The testicular FNAC of one sample with Y chromosome microdeletion revealed Sertoli cell-only type of morphology. However, no Y chromosome microdeletions were observed in any of the 13 fertile men. All patients with KFS had elevated plasma FSH levels. Conclusion:Patients with KFS may harbor Y chromosome microdeletions and screening for these should be a part of their diagnostic work-up, particularly in those considering assisted reproductive techniques.

  13. Myofascial Pain Syndrome in Chronic Back Pain Patients

    Science.gov (United States)

    Nizar, Abd Jalil

    2011-01-01

    Background Myofascial pain syndrome (MPS) is a regional musculoskeletal pain disorder that is caused by myofascial trigger points. The objective of this study was to determine the prevalence of MPS among chronic back pain patients, as well as to identify risk factors and the outcome of this disorder. Methods This was a prospective observational study involving 126 patients who attended the Pain Management Unit for chronic back pain between 1st January 2009 and 31st December 2009. Data examined included demographic features of patients, duration of back pain, muscle(s) involved, primary diagnosis, treatment modality and response to treatment. Results The prevalence of MPS among chronic back pain patients was 63.5% (n = 80). Secondary MPS was more common than primary MPS, making up 81.3% of the total MPS. There was an association between female gender and risk of developing MPS (χ2 = 5.38, P = 0.02, O.R. = 2.4). Occupation, body mass index and duration of back pain were not significantly associated with MPS occurrence. Repeated measures analysis showed significant changes (P < 0.001) in Visual Analogue Score (VAS) and Modified Oswestry Disability Score (MODS) with standard management during three consecutive visits at six-month intervals. Conclusions MPS prevalence among chronic back pain patients was significantly high, with female gender being a significant risk factor. With proper diagnosis and expert management, MPS has a favourable outcome. PMID:21716607

  14. A specific nursing educational program in patients with Cushing's syndrome.

    Science.gov (United States)

    Martínez-Momblán, M Antonia; Gómez, Carmen; Santos, Alicia; Porta, Nuria; Esteve, Julia; Úbeda, Inmaculada; Halperin, Irene; Campillo, Beatriz; Guillaumet, Montserrat; Webb, Susan M; Resmini, Eugenia

    2016-07-01

    Cushing's syndrome (CS) is a rare endocrine disease, due to cortisol hypersecretion. CS patients have comorbidities, often still present after biochemical cure. Specific nursing healthcare programs to address this disease and achieve improved health related quality of life (HRQoL) are lacking. Thus, an educational nursing intervention, through the development and promotion of specific educational tools, appears to be justified. The objective of this study is to assess the effectiveness of an educational nursing program in CS patients on HRQoL, clinical parameters, level of pain and physical activity, patterns of rest, and use of health resources. A prospective, randomized study was conducted in two reference hospitals for CS. Sixty-one patients (mean age 47 ± 12.7 years, 83.6 % females) were enrolled and divided into 2 groups: an "intervention" group where educational sessions were performed over 9 months and a "control" group, without these sessions. Specific questionnaires were used at the beginning and end of the study. After educational sessions, the intervention group had a better score in the CushingQoL questionnaire (p educational nursing program improved physical activity, healthy lifestyle, better sleep patterns, and reduced pain in CS patients, influencing HRQoL and reducing consumption of health resources. Moreover, the brief nature of the program suggests it as a good candidate to be used in CS patients.

  15. Cornelia de Lange syndrome: Congenital heart disease in 149 patients.

    Science.gov (United States)

    Ayerza Casas, Ariadna; Puisac Uriol, Beatriz; Teresa Rodrigo, María Esperanza; Hernández Marcos, María; Ramos Fuentes, Feliciano J; Pie Juste, Juan

    2017-06-16

    Cornelia de Lange syndrome (CdLS) is produced by mutations in genes that encode regulatory or structural proteins of the cohesin complex. Congenital heart disease (CHD) is not a major criterion of the disease, but it affects many individuals. The objective of this study was to study the incidence and type of CHD in patients with CdLS. Cardiological findings were evaluated in 149 patients with CdLS and their possible relationship with clinical and genetic variables. A percentage of 34.9 had CHD (septal defects 50%, pulmonary stenosis 27%, aortic coarctation 9.6%). The presence of CHD was related with neonatal hospitalisation (P=.04), hearing loss (P=.002), mortality (P=.09) and lower hyperactivity (P=.02), it being more frequent in HDAC8+ patients (60%), followed by NIPBL+ (33%) and SMC1A+ (28.5%). While septal defects predominate in NIPBL+, pulmonary stenosis is more common in HDAC8+. Patients with CdLS have a high incidence of CHD, which varies according to the affected gene, the most frequent findings being septal defects and pulmonary stenosis. Perform a cardiologic study in all these patients is suggested. Copyright © 2017 Elsevier España, S.L.U. All rights reserved.

  16. Prognostic factors in patients hospitalized with acute heart failure syndrome

    Institute of Scientific and Technical Information of China (English)

    Liviu Klein; John B. O'Connell

    2006-01-01

    Each year, there are over one million hospitalizations for acute heart failure syndrome (AHFS) in the United States alone,with a similar number in Western Europe. These patients have very high short-term (2-6 months) mortality and readmission rates, while the healthcare system incurs substantial costs. Until recently, the clinical characteristics, management patterns, and outcomes of these patients have been poorly understood and, in consequence, risk stratification for these patients has not been well defined. Several risk prediction models that can accurately identify high-risk patients have been developed in the last year using data from clinical trials, large registries or administrative databases. Use of multi-variable risk models at the time of hospital admission or discharge offers better risk stratification and should be encouraged, as it allows for appropriate allocation of existing resources and development of clinical trials testing new treatment strategies for patients admitted with AHFS. The emerging observation that the prognosis for the ensuing three to six months may be obtained at presentation for AHFS has major implications for development of future therapies.

  17. Surgical Treatment of Patients with Lennox-Gastaut Syndrome Phenotype

    Directory of Open Access Journals (Sweden)

    Shi-Yong Liu

    2012-01-01

    Full Text Available Lennox-Gastaut syndrome (LGS is a devastating and refractory generalized epilepsy affecting children and adolescents. In this study we report the results of resective surgery in 18 patients with LGS phenotype who underwent single-lobe/lesionectomy or multilobe resection plus multiple subpial transection and/or callosotomy. After surgery, seven patients became completely seizure-free (Engel Class I and five almost seizure-free (Engel Class II. Additional four had significant seizure control (Engel Class III, and two had no change in seizure frequency (Engel Class IV. Of the 4 patients without any lesion on brain MRI, 2 ended with Engel Class II, 1 with III and the other with IV in Engels’ classification. Mean intelligence quotient (IQ increased from 56.1 ± 8.1 (mean ± SD before operation to 67.4 ± 8.2 (mean ± SD after operation, a significant improvement (P=0.001. Results also indicated that the younger the patient at surgery, or the shorter the interval between onset of seizure and resective operation, the better the intellectual outcome. Our data suggest that resective epilepsy surgery can be successful in patients with LGS phenotype as long as the EEG shows dominance of discharges in one hemisphere and corresponding ipsilateral imaging findings, even with contralateral ictal discharges.

  18. Reversed Robin Hood syndrome in acute ischemic stroke patients.

    Science.gov (United States)

    Alexandrov, Andrei V; Sharma, Vijay K; Lao, Annabelle Y; Tsivgoulis, Georgios; Malkoff, Marc D; Alexandrov, Anne W

    2007-11-01

    Recurrent hemodynamic and neurological changes with persisting arterial occlusions may be attributable to cerebral blood flow steal from ischemic to nonaffected brain. Transcranial Doppler monitoring with voluntary breath-holding and serial NIH Stroke Scale (NIHSS) scores were obtained in patients with acute middle cerebral artery or internal carotid artery occlusions. The steal phenomenon was detected as transient, spontaneous, or vasodilatory stimuli-induced velocity reductions in affected arteries at the time of velocity increase in normal vessels. The steal magnitude (%) was calculated as [(MFVm-MFVb)/MFVb]x100, where m=minimum and b=baseline mean flow velocities (MFV) during the 15- to 30-second period of a total 30 second of breath-holding. Six patients had steal phenomenon on transcranial Doppler (53 to 73 years, NIHSS 4 to 15 points). Steal magnitude ranged from -15.0% to -43.2%. All patients also had recurrent neurological worsening (>2 points increase in NIHSS scores) at stable blood pressure. In 3 of 5 patients receiving noninvasive ventilatory correction for snoring/sleep apnea, no further velocity or NIHSS score changes were noted. Our descriptive study suggests possibility to detect and quantify the cerebral steal phenomenon in real-time. If the steal is confirmed as the cause of neurological worsening, reversed Robin Hood syndrome may identify a target group for testing blood pressure augmentation and noninvasive ventilatory correction in stroke patients.

  19. Electrophysiological findings of Turkish patients with restless legs syndrome.

    Science.gov (United States)

    Özsimsek, Ahmet; Koyuncuoglu, Hasan Rifat

    2017-01-01

    We aimed to investigate changes in electrophysiological findings in Turkish patients with restless legs syndrome (RLS), including F-wave latency (FWL), peripheral silent period (PSP), and Hoffmann reflex. The study took place in a university hospital in Turkey and involved 30 newly diagnosed RLS patients and 30 healthy controls who were matched for age and gender. Participant's demographics (age, gender, weight, and height), laboratory findings, and electrophysiological test outcomes were gathered and analyzed. There was no significant difference in the FWL of the median and ulnar nerves, whereas the H-wave maximum amplitude and H/M ratio were significantly higher in the RLS patients than in the controls at rest. All of the PSP parameters were similar between patients and controls for the abductor pollicis brevis and gastrocnemius muscles. However, for the tibialis anterior muscle, all the PSP duration parameters were shorter in the RLS patients, whereas the PSP latency parameters were similar. The data suggest that there may be a reduction in spinal segmental inhibition at the L4-L5-S1 level, but the mechanisms of inhibition at the L4-L5 and S1 levels may be different; furthermore, there may be no pathology in the peripheral nerves. Further prospective studies with larger cohorts are now needed to evaluate the pathophysiology of RLS with different neurophysiological assessment tools.

  20. [Valvular heart disease in patients with anti-phospholipid syndrome].

    Science.gov (United States)

    Muñoz-Rodríguez, F J; Reverter Calatayud, J C; Font Franco, J; Espinosa Garriga, G; Tàssies Penella, D; Ingelmo Morin, M

    2002-10-01

    Anti-phospholipid antibodies (APA) may involve heart and valvular heart disease seems to be the most common clinical manifestation. To study the prevalence and characteristics of valvular heart disease in a large patient population with anti-phospholipid syndrome (APS) and also to analyze the clinical and immunological profile of patients with valvular involvement compared with those without involvement. Patients and methods. Retrospective analysis of 113 patients diagnosed of APS. Eighty-one percent were females and the mean age was 39 years (SD:14). Sixty-two percent of patients were diagnosed of primary APS (70 patients) and the remaining 38% (43 patients) corresponded to patients with APS associated with systemic lupus erythematosus (SLE). The median follow-up of patients was 55 months (range: 7-144 months). The cardiologic assessment was performed by means of transthoracic echocardiogram. The study of anti-lupus anticoagulant (AL) was performed by means of coagulometric assays and measurement of anticardiolipin antibodies (aCL), anti-beta2 glycoprotein I (abeta2-PGI) and anti-prothrombin (aPT) by ELISA. The prevalence of valvular heart disease was 19%. The mitral valve was mostly involved (91%) and the most common structural abnormality corresponded to mitral insufficiency. Valvular replacement was required in 24% of patients. In the subgroup of patients with valvular heart disease, a significantly higher prevalence was observed in the following parameters: total thrombosis (71% versus 49%; p = 0.05), arterial thrombosis (57% versus 23%; p = 0.002), stroke (38% versus 13%; p = 0.01), trombocitopenia (71% versus 45%; p = 0.02), hemolytic anemia (29% versus 9%; p = 0.02), and livedo reticularis (48% versus 3%; p < 0.0001). As for immunological differences, only a higher prevalence of LA was found (81% versus 59%; p= 0.04) and abeta2-GPI (IgG isotype) (43% versus 22%; p = 0.05) in patients with valvular heart disease. Valvular heart disease is more frequent in pa-tients

  1. Parathyroidectomy Improves Restless Leg Syndrome in Patients on Hemodialysis.

    Directory of Open Access Journals (Sweden)

    Roberto Sávio Silva Santos

    Full Text Available Restless leg syndrome (RLS is a sleep disorder with high prevalence among patients on hemodialysis. It has been postulated that high phosphate and high parathyroid hormone may be implicated in its pathogenesis. Standard international criteria and face-to-face interview are not always applied.this was an interventional prospective study in which 19 patients (6 men, aged 48±11 years with severe hyperparathyroidism were evaluated. RLS diagnosis and rating scale were accessed based on the International RLS Study Group pre- and post-parathyroidectomy. Patients also underwent standard polysomnography.At baseline, RLS was present in 10 patients (52.6%, and pain was the most reported symptom associated with the diagnosis. Patients with RLS had higher serum phosphate (p = 0.008 that remained independently associated with RLS in a logistic regression model, adjusted for hemoglobin, age and gender (HR = 7.28;CI = 1.14-46.3, p = 0.035. After parathyroidectomy, there was a reduction of serum parathyroid hormone, phosphate, calcium and alkaline phosphatase, and an increase of 25(OH-vitamin D, and Fetuin-A. Parathyroidectomy alleviated RLS (from 52% to 21%; p = 0.04, which was accompanied by a decrease in severity scale, in association with relief of pain and pruritus. Polysomnography in these patients showed an improvement of sleep parameters as measured by sleep efficiency, sleep latency and percentage of REM sleep.RLS is associated with high levels of phosphate in patients with severe secondary hyperparathyroidism on hemodialysis. Pain is most reported complain in these patients. Parathyroidectomy provided an opportunity to relief RLS. Whether the reduction of serum phosphorus or parathyroid hormone contributed to this improvement merits further investigation.

  2. Parathyroidectomy Improves Restless Leg Syndrome in Patients on Hemodialysis

    Science.gov (United States)

    Santos, Roberto Sávio Silva; Coelho, Fernando Morgadinho Santos; da Silva, Bruno Caldin; Graciolli, Fabiana Giorgeti; Dominguez, Wagner Velasquez; de Menezes Montenegro, Fabio Luiz; Jorgetti, Vanda; Moysés, Rosa Maria Affonso; Elias, Rosilene Motta

    2016-01-01

    Background Restless leg syndrome (RLS) is a sleep disorder with high prevalence among patients on hemodialysis. It has been postulated that high phosphate and high parathyroid hormone may be implicated in its pathogenesis. Standard international criteria and face-to-face interview are not always applied. Methods this was an interventional prospective study in which 19 patients (6 men, aged 48±11 years) with severe hyperparathyroidism were evaluated. RLS diagnosis and rating scale were accessed based on the International RLS Study Group pre- and post-parathyroidectomy. Patients also underwent standard polysomnography. Results At baseline, RLS was present in 10 patients (52.6%), and pain was the most reported symptom associated with the diagnosis. Patients with RLS had higher serum phosphate (p = 0.008) that remained independently associated with RLS in a logistic regression model, adjusted for hemoglobin, age and gender (HR = 7.28;CI = 1.14–46.3, p = 0.035). After parathyroidectomy, there was a reduction of serum parathyroid hormone, phosphate, calcium and alkaline phosphatase, and an increase of 25(OH)-vitamin D, and Fetuin-A. Parathyroidectomy alleviated RLS (from 52% to 21%; p = 0.04), which was accompanied by a decrease in severity scale, in association with relief of pain and pruritus. Polysomnography in these patients showed an improvement of sleep parameters as measured by sleep efficiency, sleep latency and percentage of REM sleep. Conclusion RLS is associated with high levels of phosphate in patients with severe secondary hyperparathyroidism on hemodialysis. Pain is most reported complain in these patients. Parathyroidectomy provided an opportunity to relief RLS. Whether the reduction of serum phosphorus or parathyroid hormone contributed to this improvement merits further investigation. PMID:27196740

  3. Myocardial hipertrophy in hypertensive patients with and without metabolic syndrome

    Directory of Open Access Journals (Sweden)

    Ivanović Branislava

    2008-01-01

    Full Text Available Background/Aim. Beside arterial hypertension as the most important factor of a myocardial hypertension development, very important risk factors are obesity, hypercholesterolemia, insulin resistance, etc. The aim of the study was to examine the influence of metabolic syndrome (MetS on left ventricular hypertrophy in patients with arterial hypertension. Methods. We checked medical records for 138 patients with arterial hypertension, and compared them with the control group of 44 normotensive subjects. The patients with arterial hypertension were divided into two groups considering the presence of MetS: with MetS (59 patients, and without MetS (79 patients. We defined MetS as presence of three (or more within five criteria: central obesity (> 102 cm male, > 88 cm female, raised triglycerides (> 1.7 mmol/L, or drug treatment for elevated triglycerides, reduced high density lipoprotein (HDL cholesterol (< 1.03 mmol/L male, < 1.3 mmol/L female, raised blood pressure (> 130 mmHg systolic, > 90 mmHg diastolic, raised fasting glucose (> 6.11 mmol/L, or drug treatment for elevated glucose level. In each group routine laboratory, echocardiography and 24-hour ambulatory blood pressure monitoring were performed. Results. We found statisticaly significant higher left ventricular mass in both subgroups hypertensive patients in comparison with the control group (p < 0.05. We did not find statistically significant difference (227.31±63.44 vs 219±59.5, p > 0.05 in left ventricular mass between these two groups of patients. In the patients with arterial hypertension and MetS we found hypertrophy more frequently than in the subgroup without MetS (43/57 vs 34/69, p < 0.001. Conclusion. Our results suggest that associated cardiometabolic risks increase the prevalence of myocardial hypertrophy, but do not influence left ventricular mass.

  4. Anaemia to predict outcome in patients with acute coronary syndromes.

    Science.gov (United States)

    Ennezat, Pierre Vladimir; Maréchaux, Sylvestre; Pinçon, Claire; Finzi, Jonathan; Barrailler, Stéphanie; Bouabdallaoui, Nadia; Van Belle, Eric; Montalescot, Gilles; Collet, Jean-Philippe

    2013-01-01

    Owing to the heterogeneous population of patients with acute coronary syndromes (ACS), risk stratification with tools such as the GRACE risk score is recommended to guide therapeutic management and improve outcome. To evaluate whether anaemia refines the value of the GRACE risk model to predict midterm outcome after an ACS. A prospective registry of 1064 ACS patients (63 ± 14 years; 73% men; 57% ST-segment elevation myocardial infarction [MI]) was studied. Anaemia was defined as haemoglobin less than 13 mg/dL in men or less than 12 mg/dL in women. The primary endpoint was 6-month death or rehospitalization for MI. The primary endpoint was reached in 132 patients, including 68 deaths. Anaemia was associated with adverse clinical outcomes (hazard ratio 3.008, 95% confidence interval 2.137-4.234; PAnaemia provided additional prognostic information to the GRACE score as demonstrated by a systematic improvement in global model fit and discrimination (c-statistic increasing from 0.633 [0.571;0.696] to 0.697 [0.638;0.755]). Subsequently, adding anaemia to the GRACE score led to reclassification of 595 patients into different risk categories; 16.5% patients at low risk (≤ 5% risk of death or rehospitalization for MI) were upgraded to intermediate (>5-10%) or high risk (>10%); 79.5% patients at intermediate risk were reclassified as low (55%) or high risk (24%); and 45.5% patients at high risk were downgraded to intermediate risk. Overall, 174 patients were reclassified into a higher risk category (17.3%) and 421 into a lower risk category (41.9%). Anaemia provides independent additional prognostic information to the GRACE score. Combining anaemia with the GRACE score refines its predictive value, which often overestimates the risk. Copyright © 2013. Published by Elsevier Masson SAS.

  5. Low tendon stiffness and abnormal ultrastructure distinguish classic Ehlers-Danlos syndrome from benign joint hypermobility syndrome in patients

    DEFF Research Database (Denmark)

    Nielsen, Rie Harboe; Couppé, Christian; Jensen, Jacob Kildevang

    2014-01-01

    There is a clinical overlap between classic Ehlers-Danlos syndrome (cEDS) and benign joint hypermobility syndrome (BJHS), with hypermobility as the main symptom. The purpose of this study was to investigate the role of type V collagen mutations and tendon pathology in these 2 syndromes. In patients...... (cEDS, n=7; BJHS, n=8) and controls (Ctrl, n=8), we measured patellar tendon ultrastructure (transmission electron microscopy), dimensions (magnetic resonance imaging), and biomechanical properties (force and ultrasonographic measurements during a ramped isometric knee extension). Mutation analyses...... (COL5A1 and COL5A2) were performed in the patients. COL5A1 mutations were found in 3 of 4 of the patients with cEDS. Patellar tendon dimensions were similar between the groups, but large, irregular collagen fibrils were in 4 of 5 patients with cEDS. In the cEDS group, tendon stiffness and Young...

  6. A combined form of hypothyroidism in pubertal patients with non-mosaic Klinefelter syndrome.

    Science.gov (United States)

    Tahani, Natascia; Ruga, Gilda; Granato, Simona; Spaziani, Matteo; Panimolle, Francesca; Anzuini, Antonella; Lenzi, Andrea; Radicioni, Antonio Francesco

    2017-02-01

    Klinefelter syndrome has been associated with thyroid abnormalities, the genesis of which is not yet fully clear. The aim of this study was to evaluate thyroid function in Klinefelter syndrome subjects during the pubertal period. Chemiluminescent microparticle immunoassay was used to analyze Thyroid-Stimulating Hormone, fT3 and fT4 concentration in serum samples from 40 Klinefelter syndrome pubertal boys with classic 47,XXY karyotype and 157 healthy age-matched controls. 13 Klinefelter syndrome patients also underwent Thyrotropin-Releasing Hormone testing to evaluate hypothalamic-pituitary function. fT3 levels were significantly lower in Klinefelter syndrome patients than in age-matched controls (p Klinefelter syndrome patients tended to cluster around the lower part of the reference range for the assay. Three of the thirteen Klinefelter syndrome patients undergoing the Thyrotropin-Releasing Hormone test had an adequate response, one had a prolonged response at 60 min and nine responded inadequately. This study demonstrated for the first time that pubertal Klinefelter syndrome patients have significantly lower fT3 serum levels than do healthy age-matched boys, whereas Thyroid-Stimulating Hormone and fT4 are normal, albeit at the lower end of the reference range. Most patients showed an inadequate/prolonged response to pituitary stimulation with Thyrotropin-Releasing Hormone. These findings suggest a combined form of both central and peripheral hypothyroidism in Klinefelter syndrome boys during pubertal development.

  7. Claudin-2 expression is upregulated in the ileum of diarrhea predominant irritable bowel syndrome patients

    Science.gov (United States)

    Ishimoto, Haruka; Oshima, Tadayuki; Sei, Hiroo; Yamasaki, Takahisa; Kondo, Takashi; Tozawa, Katsuyuki; Tomita, Toshihiko; Ohda, Yoshio; Fukui, Hirokazu; Watari, Jiro; Miwa, Hiroto

    2017-01-01

    Intestinal epithelial barrier function is impaired in irritable bowel syndrome patients. Claudins are highly expressed in cells with tight junctions and are involved in the intestinal epithelial barrier function. The expression pattern of tight junction proteins in diarrhea-predominant irritable bowel syndrome have not been fully elucidated. We therefore recruited 17 diarrhea-predominant irritable bowel syndrome patients and 20 healthy controls. The expression of the tight junction-related proteins was examined in the ileal, cecal, and rectal mucosa of diarrhea-predominant irritable bowel syndrome patients using real-time PCR and immunofluorescence. Claudin-2 expression was high in the ileum of diarrhea-predominant irritable bowel syndrome patients. Claudin-2 expression was the same in cecum and rectal mucosa of control and diarrhea-predominant irritable bowel syndrome patients. Similarly, the expression of clauidn-1, claudin-7, JAM-A, occludin, and ZO-1 in the ileal, cecal, and rectal mucosa did not change between control and diarrhea-predominant irritable bowel syndrome samples. Infiltration of eosinophil and mast cells in the mucosa of ileum, cecum and rectum was evaluated using immunohistochemical staining and was not affected by diarrhea-predominant irritable bowel syndrome. Claudin-2 was expressed on the apical side of villi and crypts of ileal mucosal epithelial cells. Clauidn-2 expression is upregulated in diarrhea-predominant irritable bowel syndrome patients and may contribute to the pathogenesis of this condition. PMID:28366996

  8. Association of liver steatosis with colorectal cancer and adenoma in patients with metabolic syndrome.

    Science.gov (United States)

    Fiori, Enrico; Lamazza, Antonietta; De Masi, Ercole; Schillaci, Alberto; Crocetti, Daniele; Antoniozzi, Angelo; Sterpetti, Antonio V; De Toma, Giorgio

    2015-04-01

    Metabolic syndrome has been identified as a risk factor for colorectal cancer and adenoma. The aim of our study was to assess the risk of colorectal cancer and adenoma in an adult Italian population with metabolic syndrome. Ninety patients with metabolic syndrome were prospectively compared against a matched population without the syndrome to assess the prevalence of colorectal adenoma. Another 1,500 patients undergoing screening colonoscopy were prospectively analyzed: 134 patients with metabolic syndrome and colorectal adenoma were compared against a group of 108 patients with colorectal adenoma without metabolic syndrome to assess the prevalence of cancer. The study was performed from January 2008 until December 2010. Data were analyzed from March to June 2011. The prevalence of colorectal adenoma was twice as high in patients with metabolic syndrome. The incidence of cancer was higher in patients with colorectal adenoma and metabolic syndrome. Associated obesity and liver steatosis were the only factors with independent statistical value. Metabolic syndrome is a risk factor for adenoma and cancer degeneration when obesity is present. Associated liver steatosis is a significant risk factor for colorectal cancer. Copyright© 2015 International Institute of Anticancer Research (Dr. John G. Delinassios), All rights reserved.

  9. Patient safety and nursing: interface with stress and Burnout Syndrome.

    Science.gov (United States)

    Rodrigues, Cláudia Cristiane Filgueira Martins; Santos, Viviane Euzébia Pereira; Sousa, Paulo

    2017-01-01

    To analyze studies on stress, Burnout Syndrome, and patient safety in the scope of nursing care in the hospital environment. This was an integrative literature review. Data collection was performed in February 2016 in the following databases: Medical Literature Analysis and Retrieval System Online - PubMed/MEDLINE, Latin American and Caribbean Literature in Health Sciences - LILACS. Ten scientific productions were selected, which listed that factors contributing to stress and Burnout Syndrome of nursing professionals are the work environment as a source of stress, and excessive workload as a source of failures. The analysis found that the stress and Burnout Syndrome experienced by these professionals lead to greater vulnerability and development of unsafe care, and factors such as lack of organizational support can contribute to prevent these failures. Analisar estudos que versam sobre o estresse e Síndrome de Burnout, bem como a segurança do paciente no âmbito da assistência de enfermagem no ambiente hospitalar. Tratou-se de uma revisão integrativa de literatura. O levantamento dos dados foi efetuado nas bases de dados Medical Literature Analysis and Retrieval System Online - PubMed / MEDLINE, Literatura Latino-Americana e do Caribe em Ciências da Saúde -LILACS em fevereiro de 2016. Foram selecionadas10 produções científicas que apontaram que os fatores que contribuem para o estresse e a Síndrome de Burnout dos profissionais de enfermagem são o ambiente de trabalho como fonte de estresse e a carga de trabalho excessiva como geradora de falhas. A análise apontou que o estresse e a Síndrome de Burnout vivenciada por esses profissionais acarretam maior vulnerabilidade ao desenvolvimento de uma assistência insegura e que fatores como a falta de apoio organizacional podem contribuir para dirimir essas falhas.

  10. Symptoms in patients with takotsubo syndrome: a qualitative interview study

    Science.gov (United States)

    Ulin, Kerstin; Omerovic, Elmir; Ekman, Inger

    2016-01-01

    Objective The aim of the study was to investigate the meaning of narrated symptoms in connection to takotsubo syndrome. Design, method, participants and setting Qualitative study consisting of 25 interviews, 23 women and 2 men aged 39–84 and living in Region Västra Götaland, Sweden. The transcribed text was analysed with phenomenological hermeneutics. Results The interviewees reported a large number of symptoms before, during and after the acute onset of takotsubo syndrome, including pain, affected breathing, lassitude, malaise and nausea. Several of these have not been reported previously. Symptoms before the acute onset were, even if they had been prominent, ignored by the interviewees for various reasons. During the acute phase, the symptoms could no longer be ignored and the interviewees sought healthcare. The remaining residual symptom after discharge from hospital caused a great deal of worry because the interviewees feared that they would be permanent and they felt they could not live this way. On the whole, becoming ill and having a large number of symptoms greatly impacted the lives of the interviewees and made them re-evaluate how they had been living. Furthermore, they reported feeling alone and lost regarding their symptom burden, especially in relation to their residual symptoms, which affected their health and ability to return to daily life. Conclusions Acute symptoms, and symptoms before and after the acute ones, are a major part of the illness experience for patients with takotsubo syndrome and affect their health and well-being. Assessment of symptoms should be an integrated part of care to promote health. One way of achieving this is through the patients’ own narratives of their experiences, which are an important component in person-centred care. PMID:27707826

  11. Investigation of Monnose-Binding Lectin gene Polymorphism in Patients with Erythema Multiforme, Stevens-Johnson Syndrome and Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Overlap Syndrome

    Directory of Open Access Journals (Sweden)

    Sevil Toka

    2012-09-01

    Full Text Available Objective: Monnose-Binding lectin (MBL appears to play an important role in the immune system. The genetic polymorphisms in the MBL2 gene can result in a reduction of serum levels, leading to a predisposition to recurrent infection. The aim of this study is to investigate the influence of a polymorphism in codon 54 of the MBL2 gene on the susceptibility to Erythema Multiforme, Stevens-Johnson Syndrome and Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Overlap Syndrome (EM, SJS and SJS/TEN overlap syndrome. Material and Methods: Our study included 64 patients who were clinically and/or histopathologically diagnosed with EM, SJS, and SJS/TEN overlap syndrome and 66 healthy control subjects who were genotyped for the MBL2 gene codon 54 polymorphism using the PCR-RFLP method. For all statistical analyses, the level of significance was set at p<0.05. Results: The prevalence of the B allele was 18% in the EM, SJS and SJS/TEN patient groups and 13% in the control group. No significant differences in allele frequencies of any polymorphism were observed between the patient and control groups, although the B allele was more frequent in the patient groups (p=0.328.Conclusion: Our results provide no evidence of a relationship between MBL2 gene codon 54 polymorphism and the susceptibility to EM, SJS and SJS/TEN overlap syndrome. However, these findings should be confirmed in studies with a larger sample size.

  12. Anesthetic management for foramen magnum decompression in a patient with Morquio syndrome: a case report.

    Science.gov (United States)

    Geetha, Lakshminarsimhaiah; Radhakrishnan, Muthuchellappan; Raghavendra, Biligiri Sridhar; Rao, G S Umamaheswara; Indira Devi, Bhagavatula

    2010-08-01

    Morquio syndrome is a hereditary mucopolysaccharide disorder presenting with an abnormality of the craniocervical junction from childhood. We describe an adult patient who presented with Morquio syndrome who had subglottic narrowing of the airway, restrictive pulmonary disease, and mild mitral regurgitation and trivial aortic regurgitation. The anesthetic management of this patient for atlantoaxial stabilization is presented.

  13. Further patient with Angelman syndrome due to paternal disomy of chromosome 15 and a milder phenotype

    Energy Technology Data Exchange (ETDEWEB)

    Gillessen-Kaesbach, G.; Passarge, E.; Horsthemke, B. [Institut fuer Humangenetik, Essen (Germany)

    1995-04-10

    This {open_quotes}Letter to the Editor{close_quotes} decribes a patient with Angelman syndrome due to paternal uniparental disomy of chromosome 15 and a milder phenotype compared to Angelman syndrome patients with a 15q deletion. 10 refs., 1 fig.

  14. Current Surgical Outcomes of Congenital Heart Surgery for Patients With Down Syndrome in Japan.

    Science.gov (United States)

    Hoashi, Takaya; Hirahara, Norimichi; Murakami, Arata; Hirata, Yasutaka; Ichikawa, Hajime; Kobayashi, Junjiro; Takamoto, Shinichi

    2017-09-12

    Current surgical outcomes of congenital heart surgery for patients with Down syndrome are unclear.Methods and Results:Of 29,087 operations between 2008 and 2012 registered in the Japan Congenital Cardiovascular Surgery Database (JCCVSD), 2,651 were carried out for patients with Down syndrome (9%). Of those, 5 major biventricular repair procedures [ventricular septal defect repair (n=752), atrioventricular septal defect repair (n=452), patent ductus arteriosus closure (n=184), atrial septal defect repair (n=167), tetralogy of Fallot (TOF) repair (n=108)], as well as 2 major single ventricular palliations [bidirectional Glenn (n=21) and Fontan operation (n=25)] were selected and their outcomes were compared. The 90-day and in-hospital mortality rates for all 5 major biventricular repair procedures and bidirectional Glenn were similarly low in patients with Down syndrome compared with patients without Down syndrome. On the other hand, mortality after Fontan operation in patients with Down syndrome was significantly higher than in patients without Down syndrome (42/1,558=2.7% vs. 3/25=12.0%, P=0.005). Although intensive management of pulmonary hypertension is essential, analysis of the JCCVSD revealed favorable early prognostic outcomes after 5 major biventricular procedures and bidirectional Glenn in patients with Down syndrome. Indication of the Fontan operation for patients with Down syndrome should be carefully decided.

  15. Health-related problems and quality of life in patients with syndromic and complex craniosynostosis

    NARCIS (Netherlands)

    T. de Jong (Tim); M. Maliepaard (Marianne); N. Bannink (Natalja); H. Raat (Hein); I.M.J. Mathijssen (Irene)

    2012-01-01

    textabstractPurpose: We conducted this study to gauge the health-related problems, quality of life and the performance of the Health Utility Index Mark 3 (HUI-3) in patients with syndromic and complex craniosynostosis. Patients with syndromic and complex craniosynostosis have various physical and me

  16. Outcomes of male patients with Alport syndrome undergoing renal replacement therapy

    DEFF Research Database (Denmark)

    Temme, Johanna; Kramer, Anneke; Jager, Kitty J;

    2012-01-01

    Patients with the hereditary disease Alport syndrome commonly require renal replacement therapy (RRT) in the second or third decade of life. This study compared age at onset of RRT, renal allograft, and patient survival in men with Alport syndrome receiving various forms of RRT (peritoneal dialys...

  17. Cushing's syndrome and bone mineral density: lowest Z scores in young patients.

    NARCIS (Netherlands)

    Eerden, A.W.A.; Heijer, M. den; Oyen, W.J.G.; Hermus, A.R.M.M.

    2007-01-01

    Background: Patients with Cushing's syndrome have a high prevalence of osteoporotic fractures. Little is known about factors determining bone mineral density (BMD) in these patients. Objective: To evaluate which factors influence BMD at the time of diagnosis of Cushing's syndrome. Methods: In 77

  18. Cushing's syndrome and bone mineral density: lowest Z scores in young patients.

    NARCIS (Netherlands)

    Eerden, A.W.A.; Heijer, M. den; Oyen, W.J.G.; Hermus, A.R.M.M.

    2007-01-01

    Background: Patients with Cushing's syndrome have a high prevalence of osteoporotic fractures. Little is known about factors determining bone mineral density (BMD) in these patients. Objective: To evaluate which factors influence BMD at the time of diagnosis of Cushing's syndrome. Methods: In 77 con

  19. Applicability of bosentan in Dutch patients with Eisenmenger syndrome : preliminary results on safety and exercise capacity

    NARCIS (Netherlands)

    Duffels, M.G.J.; Berger, R.M.F.; Bresser, P.; de Bruin-Bon, H.A.C.M.; Hoendermis, E.; Bouma, Berto J.; Mulder, B.J.M.

    2006-01-01

    BACKGROUND: The purpose of this study was to investigate the applicability of bosentan treatment in a broad selection of patients with Eisenmenger syndrome. METHODS: Dutch patients with Eisenmenger syndrome in New York Heart Association functional class III, 9 (41%) male and 13 (59%) female, includi

  20. Molecular characterization of Histoplasma capsulatum isolated from an outbreak in treasure hunters Histoplasma capsulatum in treasure hunters

    Directory of Open Access Journals (Sweden)

    Muñoz Bertha

    2010-09-01

    Full Text Available Abstract Background In Mexico, primary pulmonary histoplasmosis is the most relevant clinical form of the disease. The geographical distribution of specific strains of Histoplasma capsulatum circulating in Mexico has not been fully established. Outbreaks must be reported in order to have current, updated information on this disease, identifying new endemic areas, manner of exposure to the fungi, and molecular characterization of the causative agents. We report a recent outbreak of histoplasmosis in treasure hunters and the molecular characterization of two isolates obtained from these patients. Methods Six patients admitted to the National Institute of Respiratory Diseases (INER in Mexico City presented severe respiratory symptoms suggestive of histoplasmosis. They acquired the infection in the Veracruz (VZ endemic zone. Diagnosis was made by X-ray and Computed tomography (CT, liver function, immunological techniques, and culture. Identification of H. capsulatum isolates was confirmed by using Polymerase chain reaction (PCR was conducted with a probe from the M antigen, and the isolates were characterized by means of Random amplification of polymorphic DNA (RAPD-PCR employed the 1253 oligonucleotide and a mixture of oligonucleotides 1281 and 1283. These were compared to eight reference strain isolates from neighboring areas. Results X-ray and CT revealed disseminated micronodular images throughout lung parenchyma, as well as bilateral retrocaval, prevascular, subcarinal, and hilar adenopathies, hepatosplenomegaly, and altered liver function tests. Five of the six patients developed disseminated histoplasmosis. Two H. capsulatum strains were isolated. The same band profile was detected in both strains, indicating that both isolates corresponded to the sole H. capsulatum strain. Molecular characterization of the isolates was similar in 100% with the EH-53 Hidalgo human (HG strain (reference strain integrated into the LAm A clade described for