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Sample records for haemorrhagic telangiectasia patients

  1. Cerebral abscesses among Danish patients with hereditary haemorrhagic telangiectasia

    DEFF Research Database (Denmark)

    Kjeldsen, A D; Tørring, P M; Nissen, H

    2013-01-01

    Hereditary haemorrhagic telangiectasia (HHT) is a dominantly inherited disease characterized by a wide variety of clinical manifestations, including pulmonary arteriovenous malformations (PAVMs), which due to paradoxical embolization may cause cerebral abscess.......Hereditary haemorrhagic telangiectasia (HHT) is a dominantly inherited disease characterized by a wide variety of clinical manifestations, including pulmonary arteriovenous malformations (PAVMs), which due to paradoxical embolization may cause cerebral abscess....

  2. National mutation study among Danish patients with hereditary haemorrhagic telangiectasia

    DEFF Research Database (Denmark)

    Tørring, P M; Brusgaard, K; Ousager, L B

    2014-01-01

    carry mutations in the ENG, ACVRL1 or SMAD4 genes. Here, we report on the genetic heterogeneity in the Danish national HHT population and address the prevalence of pulmonary arteriovenous malformations (PAVM). Probands of 107 apparently unrelated families received genetic testing, including sequencing....... Large deletions were identified in ENG and ACVRL1. The prevalence of PAVM was 52.3% in patients with an ENG mutation and 12.9% in the ACVRL1 mutation carriers. We diagnosed 80% of the patients clinically, fulfilling the Curaçao criteria, and those remaining were diagnosed by genetic testing......Hereditary haemorrhagic telangiectasia (HHT) is an autosomal dominantly inherited vascular disease characterized by the presence of mucocutaneous telangiectasia and visceral arteriovenous malformations (AVM). The clinical diagnosis of HHT is based on the Curaçao criteria. About 85% of HHT patients...

  3. Treatment of Laryngeal Telangiectatic Lesions in a Patient Diagnosed with Hereditary Haemorrhagic Telangiectasia

    DEFF Research Database (Denmark)

    Kjeldsen, Anette Drøhse; Printz, Trine; Slot Mehlum, Camilla

    2015-01-01

    Abstract We here present a case concerning a 69 year old female patient with Hereditary Haemorrhagic Telangiectasia (HHT). She was suffering from hoarseness due to a telangiectatic lesion on the right vocal cord. The lesion was treated with laser and the voice improved markedly, which is document...

  4. Follow-up of Thalidomide treatment in patients with Hereditary Haemorrhagic Telangiectasia.

    Science.gov (United States)

    Hosman, A; Westermann, C J J; Snijder, R; Disch, F; Mummery, C L; Mager, J J

    2015-12-01

    Patients with a hereditary vascular disorder called Rendu-Osler-Weber syndrome (Hereditary Haemorrhagic Telangiectasia, HHT) haemorrhage easily due to weak-walled vessels. Haemorrhage in lungs or brain can be fatal but patients suffer most from chronic and prolonged nosebleeds (epistaxis), the frequency and intensity of which increases with age. Several years ago, it was discovered serendipitously that the drug Thalidomide had beneficial effects on the disease symptoms in several of a small group of HHT patients: epistaxis and the incidence of anaemia were reduced and patients required fewer blood transfusions. In addition, they reported a better quality of life. However, Thalidomide has significant negative side effects, including neuropathy and fatigue. We followed up all HHT patients in the Netherlands who had been taking Thalidomide at the time the original study was completed to find out (i) how many had continued taking Thalidomide and for how long (ii) the nature and severity of any side-effects and (iii) whether side-effects had influenced their decision to continue taking Thalidomide. Only a minority of patients had continued taking the drug despite its beneficial effects on their symptoms and that the side effects were the primary reason to stop. Despite symptom reduction, alternative treatments are still necessary for epistaxis in HHT patients and a large-scale clinical trial is not justified although incidental use in the most severely affected patients can be considered.

  5. Clinical symptoms according to genotype amongst patients with hereditary haemorrhagic telangiectasia

    DEFF Research Database (Denmark)

    Kjeldsen, A D; Møller, T R; Brusgaard, K

    2005-01-01

    families. In 14 of the families we identified a disease-causing mutation. Thirty-nine patients (from 10 families) had HHT1 and 16 HHT patients from four families had HHT2. CONCLUSION: Amongst patients with HHT1 genotype the prevalence of PAVM was higher than amongst HHT patients with HHT2 genotype. HHT1......BACKGROUND: Hereditary haemorrhagic telangiectasia (HHT) is a dominantly inherited disease, characterized by a wide variety of clinical manifestations, including epistaxis, gastrointestinal (GI) bleeding, pulmonary arteriovenous malformations (PAVMs) and neurological symptoms. HHT is a genetically...... for PAVM and neurological evaluation. Blood tests were performed for analysis of disease-causing mutation, and clinical manifestations in the HHT subtypes were compared. The survival of the patients was studied in the follow-up period. RESULTS: Included in the study were 73 HHT patients representing 18...

  6. The diagnostic quandary of hereditary haemorrhagic telangiectasia vs. CREST syndrome.

    Science.gov (United States)

    Lee, J B; Ben-Aviv, D; Covello, S P

    2001-10-01

    The distribution and clinical appearance of the telangiectasia in the CREST syndrome (calcinosis, Raynaud's phenomenon, oesophageal involvement, sclerodactyly, telangiectasia) and hereditary haemorrhagic telangiectasia (HHT) are very similar. Several previously reported cases of the CREST syndrome simulating HHT illustrate this diagnostic quandary. We report a patient who met the diagnostic criteria for both the CREST syndrome and HHT, and discuss the distinguishing features of the two diseases, including the distinctive histopathological findings of telangiectasia in HHT.

  7. Hereditary haemorrhagic Telangiectasia

    DEFF Research Database (Denmark)

    Kjeldsen, Anette Drøhse; Vase, P.; Green, Anders

    1999-01-01

    1974 in the County of Fyn, Denmark, were identified. In 1995–97 a follow-up study of mortality was performed of the initial patient sample, and a new point prevalence rate of HHT as of 1 January 1995 was calculated. All live patients and their families were invited to attend a detailed clinical...

  8. Prevalence of pulmonary arteriovenous malformations (PAVMs) and occurrence of neurological symptoms in patients with hereditary haemorrhagic telangiectasia (HHT)

    DEFF Research Database (Denmark)

    Kjeldsen, A D; Oxhøj, H; Andersen, P E

    2000-01-01

    Hereditary haemorrhagic telangiectasia (HHT) is a dominantly inherited disease. HHT is characterized by a wide variety of clinical manifestations, including pulmonary arteriovenous malformations (PAVMs) and neurological symptoms.......Hereditary haemorrhagic telangiectasia (HHT) is a dominantly inherited disease. HHT is characterized by a wide variety of clinical manifestations, including pulmonary arteriovenous malformations (PAVMs) and neurological symptoms....

  9. Pulmonary vascular complications of hereditary haemorrhagic telangiectasia.

    Science.gov (United States)

    Circo, Sebastian; Gossage, James R

    2014-09-01

    The purpose of this study is to present the latest advances and recommendations in the diagnosis and treatment of pulmonary vascular complications associated with hereditary haemorrhagic telangiectasia (HHT): pulmonary arteriovenous malformations (PAVMs), pulmonary arterial hypertension (PAH), pulmonary hypertension associated with high output cardiac failure or liver vascular malformations, haemoptysis, haemothorax and thromboembolic disease. Transthoracic contrast echocardiography has been validated as a screening tool for PAVM in patients with suspected HHT. Advancements in genetic testing support its use in family members at risk as a cost-effective measure. Therapy with bevacizumab in patients with high output cardiac failure and severe liver AVMs showed promising results. PAH tends to be more aggressive in HHT type 2 patients. Patients suffering from this elusive disease should be referred to HHT specialized centres to ensure a standardized and timely approach to diagnosis and management.

  10. Genetic heterogeneity in hereditary haemorrhagic telangiectasia.

    Science.gov (United States)

    Porteous, M E; Curtis, A; Williams, O; Marchuk, D; Bhattacharya, S S; Burn, J

    1994-01-01

    A locus causing hereditary haemorrhagic telangiectasia (HHT) has recently been mapped to 9q34 in four families and designated HHT1. In this paper, the results of a linkage study showing genetic heterogeneity in four families in whom HHT is segregating are reported. All the previously reported 9q34 linked families contain at least one affected member with a symptomatic pulmonary arteriovenous malformation. We postulate that clinical heterogeneity may also be a feature of HHT with a significantly higher predisposition to symptomatic PAVMs associated with the HHT1 linked families. PMID:7891373

  11. Hereditary haemorrhagic telangiectasia: a cause of preventable morbidity and mortality.

    LENUS (Irish Health Repository)

    Brady, A P

    2012-01-31

    Hereditary haemorrhagic telangiectasia (HHT) is an autosomal dominant condition whose effects are mediated through deficient blood vessel formation and regeneration, with multisystem involvement. Patients are usually aware of resulting skin telangiectasia and epistaxis, but are also exposed to dangers posed by occult vascular malformations in other organs. About 15-35% of HHT patients have pulmonary AVMs (PAVMs), 10% have cerebral AVMs (CAVMs), 25-33% suffer significant GI blood loss from GI tract telangiectasia, and an unknown but high percentage have liver involvement. In total, 10% of affected individuals die prematurely or suffer major disability from HHT, largely because of bleeding from CAVMs and PAVMs, or paradoxical embolization through PAVMs. Screening for and early intervention to treat occult PAVMs and CAVMs can largely eliminate these risks, and should be undertaken in a specialist centre. The National HHT Center in The Mercy University Hospital in Cork is the referral centre for HHT screening in Ireland.

  12. Global Gene Expression Profiling of Telangiectasial Tissue from Patients with Hereditary Haemorrhagic Telangiectasia

    DEFF Research Database (Denmark)

    Tørring, Pernille M; Larsen, Martin Jakob; Kjeldsen, Anette D

    2015-01-01

    and arteriovenous malformations in visceral organs, primarily the lungs, brain and liver. The most common symptom in HHT is epistaxis originating from nasal telangiectasia, which can be difficult to prevent and can lead to severe anaemia. The clinical manifestations of HHT are extremely variable, even within family...

  13. Mutations in endoglin and in activin receptor-like kinase 1 among Danish patients with hereditary haemorrhagic telangiectasia

    DEFF Research Database (Denmark)

    Brusgaard, K; Kjeldsen, A D; Poulsen, L

    2004-01-01

    Hereditary haemorrhagic telangiectasia (HHT) is a rare disorder with one per 6000-10,000 affected individuals in the general Caucasian population. HHT is genetically heterogeneous, involving at least two loci HHT1 mapping to chromosome 9q34.1 and HHT2 mapping to chromosome 12q31. The loci have been...... identified as endoglin (ENG) and activin receptor-like kinase 1 (ALK1). In order to gain knowledge of the genotype distribution and prevalence in the Danish population and to establish a reproducible and sensitive molecular genetic test method, we developed a denaturating gradient gel electrophoresis...... protocol for mutation scanning of the two loci. Twenty-five Danish HHT families were tested. A total of eight new as well as seven previously reported mutations were identified. A founder mutation was characterized present in seven families and possibly introduced around 350 years ago. In one individual...

  14. Life expextancy of parents with Hereditary Haemorrhagic Telangiectasia.

    Science.gov (United States)

    de Gussem, E M; Edwards, C P; Hosman, A E; Westermann, C J J; Snijder, R J; Faughnan, M E; Mager, J J

    2016-04-22

    Hereditary Haemorrhagic Telangiectasia (HHT) is an autosomal dominant disease associated with epistaxis, arteriovenous malformations and telangiectasias. Disease complications may result in premature death. We investigated life-expectancies of parents of HHT patients compared with their non-HHT partners using self- or telephone-administered questionnaires sent to their children. Patients were extracted from the databases of 2 participating HHT Centres: the Toronto HHT Database (Toronto, Canada) and the St. Antonius Hospital HHT Database (Nieuwegein, The Netherlands). Two hundred twenty five/407 (55%) of respondents were included creating HHT- (n = 225) and control groups (n = 225) of equal size. Two hundred thirteen/225 (95%) of the HHT group had not been screened for organ involvement of the disease prior to death. The life expectancy in parents with HHT was slightly lower compared to parents without (median age at death 73.3 years in patients versus 76.6 years in controls, p0.018). Parents with ACVRL 1 mutations had normal life expectancies, whereas parents with Endoglin mutations died 7.1 years earlier than controls (p = 0.024). Women with Endoglin mutations lived a median of 9.3 years shorter than those without (p = 0.04). Seven/123 (5%) of deaths were HHT related with a median age at death of 61.5 years (IQ range 54.4-67.7 years). Our study showed that the life expectancy of largely unscreened HHT patients was lower than people without HHT. Female patients with Endoglin mutations were most strikingly at risk of premature death from complications. These results emphasize the importance of referring patients with HHT for screening of organ involvement and timely intervention to prevent complications.

  15. Research on Potential Biomarkers in Hereditary Haemorrhagic Telangiectasia

    Directory of Open Access Journals (Sweden)

    Luisa Maria Botella

    2015-03-01

    Full Text Available Hereditary Hemorrhagic Telangiectasia (HHT is a genetically heterogeneous disorder, involving mutations in two predominant genes known as Endoglin (ENG; HHT1 and Activin receptor like kinase 1 (ACVRL1/ALK1; HHT2, as well as in some less frequent genes, such as MADH4/SMAD4 (JP-HHT or BMP9/GDF2 (HHT5. The diagnosis of HHT patients currently remains at the clinical level, according to the Curaçao criteria, whereas the molecular diagnosis is used to confirm or rule out suspected HHT cases, especially when a well characterized index case is present in the family or in an isolated population. Unfortunately, many suspected patients do not present a clear HHT diagnosis or do not show pathogenic mutations in HHT genes, prompting the need to investigate additional biomarkers of the disease. Here, several HHT biomarkers and novel methodological approaches developed during the last years will be reviewed. On one hand, products detected in plasma or serum samples: soluble proteins (VEGF, TGF-β1, soluble endoglin, angiopoietin-2 and microRNA variants (miR-27a, miR-205, miR-210. On the other hand, differential HHT gene expression fingerprinting, Next Generation Sequencing (NGS of a panel of genes involved in HHT, and infrared spectroscopy combined with Artificial Neural Network (ANN patterns will also be reviewed. All these biomarkers might help to improve and refine HHT diagnosis by distinguishing from the non-HHT population.

  16. Experience of the Irish National Centre for hereditary haemorrhagic telangiectasia 2003-2008.

    LENUS (Irish Health Repository)

    Ni Bhuachalla, C F

    2012-01-31

    Hereditary haemorrhagic telangiectasia (HHT) is a group of autosomal dominant disorders of vascular structure. The Irish National Centre for HHT at the Mercy University Hospital, Cork, Ireland was founded in 2003. From 2003 to 2008, screening of 164 patients with contrast echocardiography, thoracic computerised tomography (CT) and cerebral magnetic resonance imaging (MRI) has identified 88 patients with definite HHT, 72 (82%) of whom had epistaxis, 70 (80%) had telangiectasia and 81 (92%) had a first-degree relative with HHT. We sought to describe the manifestations of HHT in an Irish population and to determine differences between internationally reported data. The HHT patient database was analysed to describe demographics, clinical manifestations and interventional procedures performed in all referred patients. Contrast echocardiography and\\/or CT were performed in 86 patients with definite HHT, identifying 27 patients (31%) with pulmonary arteriovenous malformations (pAVMs). Nineteen patients with single or multiple pAVMs had 28 embolisation procedures performed, with 1-6 pAVMs embolised per procedure. Cerebral MRI was performed in 78 (89%) patients and 2 (2.3%) had cerebral arteriovenous malformations (cAVMs). HHT prevalence is thought to be 1 in 2500-8000, suggesting that there are many undiagnosed cases in Irish patients. Internationally published data suggest a prevalence of 15-35% for pAVMs and 10-23% for cAVMs in patients with HHT. While the prevalence of pAVMs in our group is consistent with these data, the prevalence of cAVMs is considerably lower, suggesting that Irish patients with HHT may differ genotypically and phenotypically from those in other countries.

  17. Endoplasmic reticulum quality control is involved in the mechanism of endoglin-mediated hereditary haemorrhagic telangiectasia.

    Directory of Open Access Journals (Sweden)

    Bassam R Ali

    Full Text Available Hereditary haemorrhagic telangiectasia (HHT is an autosomal dominant genetic condition affecting the vascular system and is characterised by epistaxis, arteriovenous malformations and mucocutaneous and gastrointestinal telangiectases. This disorder affects approximately 1 in 8,000 people worldwide. Significant morbidity is associated with this condition in affected individuals, and anaemia can be a consequence of repeated haemorrhages from telangiectasia in the gut and nose. In the majority of the cases reported, the condition is caused by mutations in either ACVRL1 or endoglin genes, which encode components of the TGF-beta signalling pathway. Numerous missense mutations in endoglin have been reported as causative defects for HHT but the exact underlying cellular mechanisms caused by these mutations have not been fully established despite data supporting a role for the endoplasmic reticulum (ER quality control machinery. For this reason, we examined the subcellular trafficking of twenty-five endoglin disease-causing missense mutations. The mutant proteins were expressed in HeLa and HEK293 cell lines, and their subcellular localizations were established by confocal fluorescence microscopy alongside the analysis of their N-glycosylation profiles. ER quality control was found to be responsible in eight (L32R, V49F, C53R, V125D, A160D, P165L, I271N and A308D out of eleven mutants located on the orphan extracellular domain in addition to two (C363Y and C382W out of thirteen mutants in the Zona Pellucida (ZP domain. In addition, a single intracellular domain missense mutant was examined and found to traffic predominantly to the plasma membrane. These findings support the notion of the involvement of the ER's quality control in the mechanism of a significant number, but not all, missense endoglin mutants found in HHT type 1 patients. Other mechanisms including loss of interactions with signalling partners as well as adverse effects on functional

  18. Mouse Models of Hereditary Haemorrhagic Telangiectasia: Recent Advances and Future Challenges

    Directory of Open Access Journals (Sweden)

    Simon eTual-Chalot

    2015-02-01

    Full Text Available Hereditary Haemorrhagic Telangiectasia (HHT is a genetic disorder characterised by a multi-systemic vascular dysplasia and haemorrhage. The precise factors leading to these vascular malformations are not yet understood and robust animal models of HHT are essential to gain a detailed understanding of the molecular and cellular events that lead to clinical symptoms, as well as to test new therapeutic modalities. Most cases of HHT are caused by mutations in either endoglin (ENG or activin receptor like kinase 1 (ACVRL1, also known as ALK1. Both genes are associated with TGFβ/BMP signalling, and loss of function mutations in the co-receptor ENG are causal in HHT1, whilst HHT2 is associated with mutations in the signalling receptor ACVRL1. Significant advances in mouse genetics have provided powerful ways to study the function of Eng and Acvrl1 in vivo, and to generate mouse models of HHT disease. Mice that are null for either Acvrl1 or Eng genes show embryonic lethality due to major defects in angiogenesis. However mice that are heterozygous for mutations in either of these genes develop to adulthood with no effect on survival. Although these heterozygous mice exhibit selected vascular phenotypes relevant to the clinical pathology of HHT, the phenotypes are variable and generally quite mild. An alternative approach using conditional knockout mice allows us to study the effects of specific inactivation of either Eng or Acvrl1 at different times in development and in different cell types. These conditional knockout mice provide robust and reproducible models of arteriovenous malformations, and they are currently being used to unravel the causal factors in HHT pathologies. In this review, we will summarize the strengths and limitations of current mouse models of HHT, discuss how knowledge obtained from these studies has already informed clinical care and explore the potential of these models for developing improved treatments for HHT patients in the

  19. Bazedoxifene, a new orphan drug for the treatment of bleeding in hereditary haemorrhagic telangiectasia.

    Science.gov (United States)

    Zarrabeitia, Roberto; Ojeda-Fernandez, Luisa; Recio, Lucia; Bernabéu, Carmelo; Parra, Jose A; Albiñana, Virginia; Botella, Luisa M

    2016-06-02

    Hereditary haemorrhagic telangiectasia (HHT), or Rendu-Osler-Weber syndrome, is a dominant genetic vascular disorder. In HHT, blood vessels are weak and prone to bleeding, leading to epistaxis and anaemia, severely affecting patients' quality of life. Development of vascular malformations in HHT patients is originated mainly by mutations in ACVRL1/ALK1 (activin receptor-like kinase type I) or Endoglin (ENG) genes. These genes encode proteins of the TGF-β signalling pathway in endothelial cells, controlling angiogenesis. Haploinsufficiency of these proteins is the basis of HHT pathogenicity. It was our objective to study the efficiency of Bazedoxifene, a selective estrogen receptor modulator (SERM) in HHT, looking for a decrease in epistaxis, and understanding the underlying molecular mechanism. Plasma samples of five HHT patients were collected before, and after 1 and 3 months of Bazedoxifene treatment. ENG and ALK1 expression in activated mononuclear cells derived from blood, as well as VEGF plasma levels, were measured. Quantification of Endoglin and ALK1 mRNA was done in endothelial cells derived from HHT and healthy donors, after in vitro treatment with Bazedoxifene. Angiogenesis was also measured by tubulogenesis and wound healing assays. Upon Bazedoxifene treatment, haemoglobin levels of HHT patients increased and the quantity and frequency of epistaxis decreased. Bazedoxifene increased Endoglin and ALK1 mRNA levels, in cells derived from blood samples and in cultured endothelial cells, promoting tube formation. In conclusion, Bazedoxifene seems to decrease bleeding in HHT by partial compensation of haploinsufficiency. The results shown here are the basis of a new orphan drug designation for HHT by the European Medicine Agency (EMA).

  20. Bladder Wall Telangiectasia in a Patient with Ataxia-Telangiectasia and How to Manage?

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    Fatma Deniz Aygün

    2015-01-01

    Full Text Available Ataxia-telangiectasia (A-T is a rare neurodegenerative, inherited disease causing severe morbidity. Oculocutaneous telangiectasias are almost constant findings among the affected cases as telangiectasia is considered the main clinical finding for diagnosis. Vascular abnormalities in organs have been reported infrequently but bladder wall telangiectasias are extremely rare. We aimed to report recurrent hemorrhage from bladder wall telangiectasia in a 9-year-old boy with A-T who had received intravenous cyclophosphamide for non-Hodgkin’s lymphoma. Since A-T patients are known to be more susceptible to chemical agents, we suggested that possibly cyclophosphamide was the drug which induced bladder wall injury in this patient.

  1. Efficacy and safety of thalidomide for the treatment of severe recurrent epistaxis in hereditary haemorrhagic telangiectasia: results of a non-randomised, single-centre, phase 2 study.

    Science.gov (United States)

    Invernizzi, Rosangela; Quaglia, Federica; Klersy, Catherine; Pagella, Fabio; Ornati, Federica; Chu, Francesco; Matti, Elina; Spinozzi, Giuseppe; Plumitallo, Sara; Grignani, Pierangela; Olivieri, Carla; Bastia, Raffaella; Bellistri, Francesca; Danesino, Cesare; Benazzo, Marco; Balduini, Carlo L

    2015-11-01

    Hereditary haemorrhagic telangiectasia is a genetic disease that leads to multiregional angiodysplasia. Severe recurrent epistaxis is the most common presentation, frequently leading to severe anaemia. Several therapeutic approaches have been investigated, but they are mostly palliative and have had variable results. We aimed to assess the efficacy of thalidomide for the reduction of epistaxis in patients with hereditary haemorrhagic telangiectasia that is refractory to standard therapy. We recruited patients aged 17 years or older with hereditary haemorrhagic telangiectasia who had severe recurrent epistaxis refractory to minimally invasive surgical procedures into an open-label, phase 2, non-randomised, single-centre study at IRCCS Policlinico San Matteo Foundation (Pavia, Italy). We gave patients thalidomide at a starting dose of 50 mg/day orally. If they had no response, we increased the thalidomide dose by 50 mg/day increments every 4 weeks, until a response was seen, up to a maximum dose of 200 mg/day. After patients had achieved a response, they continued treatment for 8-16 additional weeks. The primary endpoint was the efficacy of thalidomide measured as the percentage of patients who had reductions of at least one grade in the frequency, intensity, or duration of epistaxis. We followed up patients each month to assess epistaxis severity score and transfusion need, and any adverse events were reported. We included all patients who received any study drug and who participated in at least one post-baseline assessment in the primary efficacy population. The safety population consisted of all patients who received any dose of study treatment. This trial is registered with ClinicalTrials.gov, number NCT01485224. Between Dec 1, 2011, and May 12, 2014, we enrolled 31 patients. Median follow-up was 15·9 months (IQR 10·1-22·3). Three (10%, 95% CI 2-26) patients had a complete response, with bleeding stopped, 28 (90%, 95% CI 74-98) patients had partial responses

  2. Long non-coding RNA expression profiles in hereditary haemorrhagic telangiectasia

    DEFF Research Database (Denmark)

    Tørring, Pernille M; Larsen, Martin Jakob; Kjeldsen, Anette D

    2014-01-01

    to the TGF-β signalling pathway. The exact mechanism of how haploinsufficiency of ENG and ACVRL1 leads to HHT manifestations remains to be identified. As long non-coding RNAs (lncRNAs) are increasingly recognized as key regulators of gene expression and constitute a sizable fraction of the human......RNAs are enriched for genomic loci involved in key pathways concerning HHT. Our study identified lncRNAs that are aberrantly expressed in HHT telangiectasia and indicates that lncRNAs may contribute to regulate protein-coding loci in HHT. These results suggest that the lncRNA component of the transcriptome deserves...

  3. Altered corticomotor-cerebellar integrity in young ataxia telangiectasia patients.

    Science.gov (United States)

    Sahama, Ishani; Sinclair, Kate; Fiori, Simona; Pannek, Kerstin; Lavin, Martin; Rose, Stephen

    2014-09-01

    Magnetic resonance imaging (MRI) research in identifying altered brain structure and function in ataxia-telangiectasia, an autosomal recessive neurodegenerative disorder, is limited. Diffusion-weighted MRI were obtained from 11 ataxia telangiectasia patients (age range, 7-22 years; mean, 12 years) and 11 typically developing age-matched participants (age range, 8-23 years; mean, 13 years). Gray matter volume alterations in patients were compared with those of healthy controls using voxel-based morphometry, whereas tract-based spatial statistics was employed to elucidate white matter microstructure differences between groups. White matter microstructure was probed using quantitative fractional anisotropy and mean diffusivity measures. Reduced gray matter volume in both cerebellar hemispheres and in the precentral-postcentral gyrus in the left cerebral hemisphere was observed in ataxia telangiectasia patients compared with controls (P cerebellar hemispheres, anterior/posterior horns of the medulla, cerebral peduncles, and internal capsule white matter, particularly in the left posterior limb of the internal capsule and corona radiata in the left cerebral hemisphere, was observed in patients compared with controls (P cerebellar hemisphere and the white matter of the superior lobule of the right cerebellar hemisphere (P ataxia telangiectasia patients along with white matter tract degeneration projecting from the cerebellum into corticomotor regions. The lack of cortical involvement may reflect early-stage white matter motor pathway degeneration within young patients. © 2014 International Parkinson and Movement Disorder Society.

  4. Gastrointestinal bleeding in patients with hereditary hemorrhagic telangiectasia

    DEFF Research Database (Denmark)

    Kjeldsen, A D; Kjeldsen, J

    2000-01-01

    Gastrointestinal bleeding occurs in a number of patients with hereditary hemorrhagic telangiectasia (HHT) and may lead to a high transfusion need. The aim of this study was to estimate the occurrence and severity of gastrointestinal bleeding in a geographically well defined HHT population....

  5. International guidelines for the diagnosis and management of hereditary haemorrhagic telangiectasia.

    Science.gov (United States)

    Faughnan, M E; Palda, V A; Garcia-Tsao, G; Geisthoff, U W; McDonald, J; Proctor, D D; Spears, J; Brown, D H; Buscarini, E; Chesnutt, M S; Cottin, V; Ganguly, A; Gossage, J R; Guttmacher, A E; Hyland, R H; Kennedy, S J; Korzenik, J; Mager, J J; Ozanne, A P; Piccirillo, J F; Picus, D; Plauchu, H; Porteous, M E M; Pyeritz, R E; Ross, D A; Sabba, C; Swanson, K; Terry, P; Wallace, M C; Westermann, C J J; White, R I; Young, L H; Zarrabeitia, R

    2011-02-01

    HHT is an autosomal dominant disease with an estimated prevalence of at least 1/5000 which can frequently be complicated by the presence of clinically significant arteriovenous malformations in the brain, lung, gastrointestinal tract and liver. HHT is under-diagnosed and families may be unaware of the available screening and treatment, leading to unnecessary stroke and life-threatening hemorrhage in children and adults. The goal of this international HHT guidelines process was to develop evidence-informed consensus guidelines regarding the diagnosis of HHT and the prevention of HHT-related complications and treatment of symptomatic disease. The overall guidelines process was developed using the AGREE framework, using a systematic search strategy and literature retrieval with incorporation of expert evidence in a structured consensus process where published literature was lacking. The Guidelines Working Group included experts (clinical and genetic) from eleven countries, in all aspects of HHT, guidelines methodologists, health care workers, health care administrators, HHT clinic staff, medical trainees, patient advocacy representatives and patients with HHT. The Working Group determined clinically relevant questions during the pre-conference process. The literature search was conducted using the OVID MEDLINE database, from 1966 to October 2006. The Working Group subsequently convened at the Guidelines Conference to partake in a structured consensus process using the evidence tables generated from the systematic searches. The outcome of the conference was the generation of 33 recommendations for the diagnosis and management of HHT, with at least 80% agreement amongst the expert panel for 30 of the 33 recommendations.

  6. Risk of subarachnoid haemorrhage in first degree relatives of patients with subarachnoid haemorrhage

    DEFF Research Database (Denmark)

    Gaist, D; Vaeth, M; Tsiropoulos, I

    2000-01-01

    . SUBJECTS: Incident cases of subarachnoid haemorrhage admitted to hospital from 1977 to 1995 (9367 patients) and their first degree relatives (14 781). MAIN OUTCOME MEASURES: The incidence rate of subarachnoid haemorrhage was determined for the relatives and compared with that of the entire population...

  7. Anti-oxidative capacity in patients with ataxia telangiectasia

    Science.gov (United States)

    Reichenbach, J; Schubert, R; Schwan, C; Müller, K; Böhles, H J; Zielen, S

    1999-01-01

    Highly reactive oxygen species (ROS) are involved in T-cell activation and in the defense against environmental pathogens. An imbalance of ROS generation and detoxifying scavenger enzymes could contribute to the increased susceptibility to cancer and infections in ataxia telangiectasia. We studied oxidative status, i.e. plasma total antioxidant capacity (TEAC), retinol, α-tocopherol, ubiquinol, and the number of activated T cells in 10 patients with ataxia telangiectasia (AT) compared to age-matched healthy controls. As expected, patients showed significantly increased levels of activated human leukocyte antigen-DR and CD45RO expressing T cells. TEAC levels as well as the exogenous antioxidants retinol and α-tocopherol were significantly reduced in patients. In addition, patients showed slightly reduced plasma levels of the endogenous ROS scavenger enzyme ubiquinol (Q10). Although no correlation between number of activated T-cells and antioxidant capacity could be demonstrated, an increase in ROS and a diminished reactive oxygen scavenger capacity may be involved in the disease process of patients with AT. PMID:10469059

  8. Motor pathway degeneration in young ataxia telangiectasia patients: A diffusion tractography study

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    Ishani Sahama

    2015-01-01

    Conclusions: Whole tract analysis of the corticomotor, corticospinal and somatosensory pathways in ataxia telangiectasia showed significant white matter degeneration along the entire length of motor circuits, highlighting that ataxia–telangiectasia gene mutation impacts the cerebellum and multiple other motor circuits in young patients.

  9. Coping strategies in patients following subarachnoid haemorrhage.

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    Tomberg, T; Orasson, A; Linnamägi, U; Toomela, A; Pulver, A; Asser, T

    2001-09-01

    To assess psychological coping strategies and their relationship with outcome in patients after primary subarachnoid haemorrhage (SAH). In 51 unselected patients (24 males, 27 females; mean age 46 years) in an average 15.7+/-12.0 months after SAH usage of coping strategies were assessed by means of Estonian COPE-D test with 15 four-items scales and compared to those obtained from 51 age-, sex- and education-matched healthy persons. The data were analysed according to age, sex and education of the patients, initial severity of disease, localization of aneurysm and outcome characteristics. Patients after SAH reported using social support strategy less than control persons (Pcoping styles were less used (Pdisability and dependence in daily living. Healthy women used social support more than men; patients and control persons 50 years or older used task-oriented strategies less than younger persons (Pcoping strategies used by patients after SAH differs compared to healthy persons. The differences in using coping strategies are related to age of the patients, functional state and degree of adaptation after SAH.

  10. Mutation study of Spanish patients with Hereditary Hemorrhagic Telangiectasia

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    Blanco Francisco J

    2008-08-01

    Full Text Available Abstract Background Hereditary Hemorrhagic Telangiectasia (HHT is an autosomal dominant and age-dependent vascular disorder characterised mainly by mutations in the Endoglin (ENG or activin receptor-like kinase-1 (ALK1, ACVRL1 genes. Methods Here, we have identified 22 ALK1 mutations and 15 ENG mutations, many of which had not previously been reported, in independent Spanish families afflicted with HHT. Results We identified mutations in thirty-seven unrelated families. A detailed analysis of clinical symptoms was recorded for each patient analyzed, with a higher significant presence of pulmonary arteriovenous malformations (PAVM in HHT1 patients over HHT2. Twenty-two mutations in ALK1 and fifteen in ENG genes were identified. Many of them, almost half, represented new mutations in ALK1 and in ENG. Missense mutations in ENG and ALK1 were localized in a tridimensional protein structure model. Conclusion Overall, ALK1 mutations (HHT2 were predominant over ENG mutations (HHT1 in our Spanish population, in agreement with previous data from our country and other Mediterranean countries (France, Italy, but different to Northern Europe or North America. There was a significant increase of PAVM associated with HHT1 over HHT2 in these families.

  11. Cancer incidence in patients with hereditary hemorrhagic telangiectasia.

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    Duarte, Christine W; Black, Adam W; Lucas, F Lee; Vary, Calvin P H

    2017-02-01

    Hereditary hemorrhagic telangiectasia (HHT) is a genetic disorder characterized by deficiency in endoglin, an angiogenic protein. We previously showed that HHT, in which systemic endoglin expression is reduced, was associated with better survival outcomes in cancer patients (Duarte et al. in Cancer Epidemiol Biomarkers Prev 23:117-125, 2014). Here, we evaluated whether HHT was associated with reduced cancer incidence. A matched case-control analysis using SEER Medicare was conducted to evaluate the effect of HHT on diagnosis with breast, colorectal, lung, or prostate cancer between 2000 and 2007 (n = 633,162). Cancer and non-cancer patients were matched on age, sex, SEER registry region, and length of the ascertainment period for HHT. We assessed crude association using a McNemar's test and then adjusted for demographic variables, cancer type, cancer stage, comorbidities, and ascertainment period with a conditional logistic regression model for cancer incidence. The McNemar's test showed no significant association between HHT and cancer incidence (p = 0.74). Adjusting for covariates with the conditional logistic regression model did not change the result [HHT odds ratio 0.978; 95 % CI (0.795, 1.204)]. The lack of association between HHT and cancer incidence is unexpected given the previously discovered significant association between HHT and improved survival outcomes (Duarte et al. in Cancer Epidemiol Biomarkers Prev 23:117-125, 2014). We conclude that the protective effect of reduced systemic endoglin expression in cancer is specific to cancer progression through its effect on vascularization and other stromal effects but does not extend to cancer initiation.

  12. Terson haemorrhage in patients suffering aneurysmal subarachnoid haemorrhage: a prospective analysis of 60 consecutive patients.

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    Stienen, Martin N; Lücke, Sebastian; Gautschi, Oliver P; Harders, Albrecht

    2012-07-01

    The concomitance of vitreous/subhyaloid haemorrhage (Terson syndrome; TS) and aneurysmal subarachnoid haemorrhage (aSAH) is commonly underestimated. The aim of this study was to determine the incidence of TS and to identify parameters that predispose its development, indicate the severity of the underlying disease, and predict outcome. Sixty consecutive patients suffering from aSAH were included in this study. The admitting Glasgow Coma Scale scores (GCS), Hunt & Hess (H&H) and Fisher grades were documented. All participants were ophthalmologically examined. The outcome at discharge was estimated using the Glasgow Outcome Scale (GOS). Of the 60 patients admitted for aSAH, eleven (18.3%) displayed TS within 24h after aneurysm rupture. Statistical analysis revealed a significant relation between TS and either high Fisher- (3.0 vs. 2.32; p=0.008) or H&H- (4.09 vs. 2.69; p=0.001) and low GCS- (5.55 vs. 12.87; pTerson syndrome is likely to occur in severe aSAH with poor admission scores and indicates a worse functional outcome. An ophthalmological examination is strongly recommended in aSAH patients with poor admission scores. Copyright © 2011 Elsevier B.V. All rights reserved.

  13. Ocular findings in Norwegian patients with ataxia-telangiectasia: a 5 year prospective cohort study.

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    Riise, Ruth; Ygge, Jan; Lindman, Carl; Stray-Pedersen, Asbjørg; Bek, Toke; Rødningen, Olaug Kristin; Heiberg, Arvid

    2007-08-01

    To describe the outcome of ophthalmologic examination of 10 Norwegian children with ataxia-telangiectasia (AT) followed through 5 years. Ten Norwegian patients with AT aged 2-22 years (three females, seven males) were examined. The diagnosis was confirmed clinically as well as with molecular genetic studies. Conventional ophthalmologic examination was performed and supplemented by photographs of the conjunctiva, video recordings and registration of eye motility in five consecutive years. Additionally conjunctival biopsies were performed at the end of the follow-up period. General ataxia was usually detected when the child started to walk. All children over the age of 4 years had abnormal saccade movements, a form of ocular motor apraxia. Conjunctival telangiectasias were mostly visible at 4-5 years, primarily within the palpebral fissure. Immunohistochemical examination of conjunctival biopsies showed an increased number of cross-sections of blood vessels and neurons surrounded by glial tissue. There was a tendency to slightly earlier onset of conjunctival telangiectasias in the patients homozygous for a founder mutation compared with the other patients. The diagnosis of AT can be supported at preschool age by the onset of ocular motor apraxia and conjunctival telangiectasias. The findings become more prominent with age. The conjunctival telangiectasias seem to appear slightly earlier in the patients who are homozygous for a Norwegian founder mutation than in the rest of the patients.

  14. Ataxia - telangiectasia

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    ... this page: //medlineplus.gov/ency/article/001394.htm Ataxia - telangiectasia To use the sharing features on this page, please enable JavaScript. Ataxia-telangiectasia is a rare childhood disease. It affects ...

  15. Motor pathway degeneration in young ataxia telangiectasia patients: A diffusion tractography study.

    Science.gov (United States)

    Sahama, Ishani; Sinclair, Kate; Fiori, Simona; Doecke, James; Pannek, Kerstin; Reid, Lee; Lavin, Martin; Rose, Stephen

    2015-01-01

    Our understanding of the effect of ataxia-telangiectasia mutated gene mutations on brain structure and function is limited. In this study, white matter motor pathway integrity was investigated in ataxia telangiectasia patients using diffusion MRI and probabilistic tractography. Diffusion MRI were obtained from 12 patients (age range: 7-22 years, mean: 12 years) and 12 typically developing age matched participants (age range 8-23 years, mean: 13 years). White matter fiber tracking and whole tract statistical analyses were used to assess quantitative fractional anisotropy and mean diffusivity differences along the cortico-ponto-cerebellar, cerebellar-thalamo-cortical, somatosensory and lateral corticospinal tract length in patients using a linear mixed effects model. White matter tract streamline number and apparent fiber density in patient and control tracts were also assessed. Reduced fractional anisotropy along all analyzed patient tracts were observed (p < 0.001). Mean diffusivity was significantly elevated in anterior tract locations but was reduced within cerebellar peduncle regions of all patient tracts (p < 0.001). Reduced tract streamline number and tract volume in the left and right corticospinal and somatosensory tracts were observed in patients (p < 0.006). In addition, reduced apparent fiber density in the left and right corticospinal and right somatosensory tracts (p < 0.006) occurred in patients. Whole tract analysis of the corticomotor, corticospinal and somatosensory pathways in ataxia telangiectasia showed significant white matter degeneration along the entire length of motor circuits, highlighting that ataxia-telangiectasia gene mutation impacts the cerebellum and multiple other motor circuits in young patients.

  16. Fluorescein-guided intraoperative endoscopy in patients with hereditary hemorrhagic telangiectasia: first impressions.

    Science.gov (United States)

    Pagella, Fabio; Pusateri, Alessandro; Zaccari, Dario; Bongetta, Daniele; Zoia, Cesare; Spinozzi, Giuseppe; Olivieri, Carla; Matti, Elina

    2017-03-01

    Hereditary hemorrhagic telangiectasia (HHT) is a rare genetic disease that results in mucocutaneous telangiectasias and arteriovenous visceral malformations. Nasal telangiectasias lead to recurrent epistaxis, which affects up to 96% of patients. Different morphologic classifications and methods of visualization of nasal lesions have been described in the literature. We developed a new method of intraoperative endoscopy based on the intravenous administration of fluorescein. Preliminary data of this technique are reported. After the intravenous administration of sodium fluorescein, an intraoperative fluorescein-guided endoscopy was carried out using photographic customized yellow filters on top of a 0-degree, 4-mm endoscope. In 2015, 65 HHT patients underwent surgery for their epistaxis in our institution, and in 7 patients (3 males, 4 females; mean age, 54 years) an intraoperative fluorescein-guided intraoperative nasal endoscopy was performed. No adverse events or complications were observed. First impressions regarding the usage of this technique in HHT patients seem to be promising and positive in terms of efficacy and safety. However, further studies with larger cohorts of patients should be performed in order to better investigate the use of this method for diagnostic and surgical purposes in HHT. © 2016 ARS-AAOA, LLC.

  17. Gastric outlet obstruction due to adenocarcinoma in a patient with Ataxia-Telangiectasia syndrome: a case report and review of the literature

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    Hammond Sue

    2009-03-01

    Full Text Available Abstract Background Ataxia-Telangiectasia syndrome is characterized by progressive cerebellar dysfunction, conjuctival and cutaneous telangiectasias, severe immune deficiencies, premature aging and predisposition to cancer. Clinical and radiographic evaluation for malignancy in ataxia-telangiectasia patients is usually atypical, leading to delays in diagnosis. Case presentation We report the case of a 20 year old ataxia-telangiectasia patient with gastric adenocarcinoma that presented as complete gastric outlet obstruction. Conclusion A literature search of adenocarcinoma associated with ataxia-telangiectasia revealed 6 cases. All patients presented with non-specific gastrointestinal complaints suggestive of ulcer disease. Although there was no correlation between immunoglobulin levels and development of gastric adenocarcinoma, the presence of chronic gastritis and intestinal metaplasia seem to lead to the development of gastric adenocarcinoma. One should consider adenocarcinoma in any patient with ataxia-telangiectasia who presents with non-specific gastrointestinal complaints, since this can lead to earlier diagnosis.

  18. Molecular and Functional Characterization of a Cohort of Spanish Patients with Ataxia-Telangiectasia.

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    Carranza, Diana; Vega, Ana Karina; Torres-Rusillo, Sara; Montero, Enrique; Martinez, Luis Javier; Santamaría, Manuel; Santos, Juan Luis; Molina, Ignacio J

    2017-03-01

    Ataxia-telangiectasia is a multisystemic disease with severe neurological affectation, immunodeficiency and telangiectasia. The disorder is caused by alterations in the ATM gene, whose size and complexity make molecular diagnosis difficult. We designed a target-enrichment next-generation sequencing strategy to characterize 28 patients from several regions of Spain. This approach allowed us to identify gene variants affecting function in 54 out of the 56 alleles analyzed, although the two unresolved alleles belong to brothers. We found 28 ATM gene mutations, of which 10 have not been reported. A total of 171 gene variants not affecting function were also found, of which 22 are reported to predispose to disease. Interestingly, all Roma (Spanish Gypsies) patients are homozygous for the same mutation and share the H3 ATM haplotype, which is strong evidence of a founder effect in this population. In addition, we generated a panel of 27 primary T cell lines from A-T patients, which revealed significant expression of ATM in two patients and traces of the protein in nine more. None of them retained residual ATM activity, and almost all T cell lines show increased or intermediate radiosensitivity.

  19. Ataxia Telangiectasia

    Science.gov (United States)

    Ataxia-telangiectasia (A-T) is a rare, inherited disease. It affects the nervous system, immune system, and ... young children, usually before age 5. They include Ataxia - trouble coordinating movements Poor balance Slurred speech Tiny, ...

  20. Pulmonary arteriovenous malformations and embolic complications in patients with hereditary hemorrhagic telangiectasia.

    Science.gov (United States)

    Angriman, Federico; Ferreyro, Bruno L; Wainstein, Esteban J; Serra, Marcelo M

    2014-07-01

    Patients with hereditary hemorrhagic telangiectasia (HHT) and pulmonary arteriovenous malformation (PAVM) face higher risk of embolic complications. It is not clear whether poor outcomes are related to PAVM severity or pulmonary symptoms. Furthermore, there is currently no available data on HHT patients in Argentina. We conducted a cross sectional study in a teaching hospital in Buenos Aires, Argentina. We describe baseline characteristics of HHT and compare the prevalence of embolic complications in patients with significant PAVM compared to patients without significant PAVM. One hundred and eight consecutive patients were included. Significant PAVM was defined as: contrast echocardiography grade 2 or greater; bilateral PAVM or feeding artery bigger than 3mm; or previous PAVM treatment. Primary composite outcome was defined as: cerebrovascular accident, cerebral abscess or peripheral embolism. 20% of participants had embolic complications, the most frequent one was stroke. Embolic complications were associated with significant PAVM and respiratory symptoms. Copyright © 2013 SEPAR. Published by Elsevier Espana. All rights reserved.

  1. Brainstem Auditory Evoked Potentials in Patients with Subarachnoid Haemorrhage

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    Mikhail Matveev

    2009-10-01

    Full Text Available Objective. The aim of the present study is to typify BAEPs configurations of patients with different location of lesions caused by subarachnoid haemorrhage (SAH and the ensuing complications, in view of assessing the auditory-brainstem system disturbance.Methods. The typization was performed by comparing BAEPs with standard patterns from two sets of types of BAEPs by ipsilateral and binaural stimulation and by cross-stimulation.Results. 94 BAEPs were used for collection of normal referential values: for the absolute latencies and the absolute amplitudes of waves I, II, III, IV and V; for inter-peak latencies I-III, II-III, III-V, I-V and II-V; for amplitude ratios I/V and III/V. 146 BAEPs of patients with mild SAH and 55 from patients with severe SAH, were typified. In 5 types of BAEPs out of a total of 11, the percentage of the potentials in patients with mild SAH and severe SAH differed significantly (p<0.01.Conclusions. The use of sets of types of BAEPs by ipsilateral, binaural and cross-stimulation correctly classifies the potentials in patients with mild and severe SAH.

  2. Intracranial haemorrhage among a population of haemophilic patients in Brazil.

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    Antunes, S V; Vicari, P; Cavalheiro, S; Bordin, J O

    2003-09-01

    Intracranial haemorrhage (ICH) is a common cause of morbidity and mortality in haemophilic patients. The overall incidence of ICH has been reported to range from 2.2% to 7.5% in patients with haemophilia. From 1987 to 2001, 401 haemophilic patients from the Serviço de Hemofilia, Disciplina de Hematologia e Hemoterapia, Universidade Federal de São Paulo were evaluated. The episodes of ICH were documented by CT scan and the anatomic location, clinical presentation, relationship to trauma and clinical factors, including the presence of HIV infection and the presence of inhibitor, were reviewed. Among 401 haemophilic patients, 45 ICH episodes in 35 (8.7%) patients with age ranging from 4 days to 49 years (mean 10.6 years) were observed. A history of recent trauma was documented in 24 (53.3%) cases. Seventeen (37.8%) episodes occurred in more than one site of bleeding, 12 (26.7%) were subdural, seven (15.5%) subarachnoid, four (8.9%) epidural, two (4.4%) intracerebral and one (2.2%) intraventricular. The most frequent symptoms were headache and drowsiness. All patients were submitted to replacement therapy and neurosurgical intervention was performed in eight (17.8%) patients. Despite the treatment, three (8.6%) haemophilia A patients died due to the ICH event and three presented late sequelae. The most important aspect of ICH management is the early replacement therapy in haemophilic patients. This prompt treatment will increase the chances of a better prognosis. Another impact measure consists in the administration of the deficient coagulation factor after every head trauma, even when considered minor.

  3. Thalidomide for Epistaxis in Patients with Hereditary Hemorrhagic Telangiectasia: A Preliminary Study.

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    Fang, Jia; Chen, Xiaomeng; Zhu, Bijun; Ye, Haibo; Zhang, Weitian; Guan, Jian; Su, Kaiming

    2017-08-01

    To evaluate the effectiveness of thalidomide for epistaxis in hereditary hemorrhagic telangiectasia (HHT), 7 HHT patients with recurrent epistaxis were treated with thalidomide at an initial dose of 50 mg/d, gradually increasing to 100 mg/d if needed. The Epistaxis Severity Score (ESS) was used to evaluate the treatment effects. Patients reported that epistaxis improved 1 to 3 weeks after starting thalidomide. The mean ESS before treatment, at the end of treatment, and 3 months after stopping treatment was 5.03 ± 2.05, 0.90 ± 0.84 ( P = .003), and 1.98 ± 1.33 ( P = .006), respectively. Four patients reported mild to moderate side effects, including drowsiness, dizziness, constipation, nausea, and peripheral neuropathy. Two patients stopped the treatment because of adverse effects. Those results showed that thalidomide may be a treatment choice for recurrent epistaxis in HHT patients, although the side effects should be considered. Further study should focus on guidelines for dosing and course and investigate how to reduce the adverse effects.

  4. High Rates of Bleeding Complications among Hospitalized Patients with Hereditary Hemorrhagic Telangiectasia in the United States.

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    Brinjikji, Waleed; Wood, Christopher P; Lanzino, Giuseppe; Cloft, Harry J; Misra, Sanjay; Kallmes, David F; Kamath, Patrick; Pruthi, Rajiv K; Krowka, Michael J; Swanson, Karen L; Iyer, Vivek N

    2016-09-01

    There is sparse published literature on the causes and outcomes of hospitalization of patients with hereditary hemorrhagic telangiectasia (HHT). To evaluate rates of various complications, comorbidities, and in-hospital outcomes of patients with HHT using a large, multihospital inpatient database. We identified patients with HHT in the U.S. Nationwide Inpatient Sample between 2000 and 2012. Rates of hemorrhagic, neurological, hepatic, and cardiopulmonary complications among hospitalized patients with HHT were evaluated. We also studied procedure use rates for blood transfusion, endoscopy, and epistaxis treatment. Hospitalization outcomes, including in-hospital mortality, discharge status, charges, and length of stay, were evaluated. We identified 10,293 patients with HHT. The mean age of the HHT population was 60.7 years. Sixty percent of patients were female. More than 75% of HHT hospitalizations occurred in those older than 50 years of age. Patients with HHT had high rates of bleeding-related complications, including anemia (53.3%), epistaxis (16.2%), and gastrointestinal bleeding (10.8%). Overall, bleeding complications accounted for 62.7% of HHT-related complications. Thirty-eight percent of hospitalized patients with HHT received one or more transfusions of a blood product. Cardiopulmonary complications were present in 41.0% of the cases. Congestive heart failure was the second most common individual complication among patients with HHT, affecting 19.9% of patients. The in-hospital mortality rate was 1.9%. In this large, nationwide study, we found that nearly two-thirds of patients hospitalized with HHT experienced a bleeding-related complication. Nearly 40% of hospitalized patients with HHT required transfusion of blood products. Cardiopulmonary complications, including congestive heart failure, were the second most common complication. The high burden of bleeding-related complications points to a significant unmet clinical need for these patients.

  5. Safety and caregiver satisfaction with gastrostomy in patients with Ataxia Telangiectasia

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    Crawford Thomas O

    2011-05-01

    Full Text Available Abstract Background Ataxia Telangiectasia (A-T is a rare monogenetic neurodegenerative disease with pulmonary, nutritional, and dysphagic complications. Gastrostomy tube (GT feedings are commonly recommended to manage these co-morbidities. In general, outcomes of GT placement in patients with progressive diseases that develop during childhood are not well characterized. The primary purposes of this study were to determine whether GT placement in patients with A-T would be tolerated and associated with caregiver satisfaction. Methods We completed a retrospective review of 175 patients who visited the A-T Children's Center at Johns Hopkins Hospital from 2001 through 2008, and identified 28 patients with A-T (19 males, 9 females who underwent GT placement for non-palliative reasons. Information was obtained from medical records, interviews with primary health care providers, and 24 (83% caregivers of patients with GT's who responded to survey requests. Results Twenty-five (89% patients tolerated GT placement and were a median of 5.0 (0.4-12.6 years post GT placement at the time of this investigation. Three (11% patients died within one month of GT placement. In comparison to patients who tolerated GT placement, patients with early mortality were older when GT's were placed (median 24.9 vs. 12.3 years, p = 0.006 and had developed a combination of dysphagia, nutritional, and respiratory problems. Caregivers of patients tolerating GT placement reported significant improvements in mealtime satisfaction and participation in daily activities. Conclusions GT placement can be well tolerated and associated with easier mealtimes in patients with A-T when feeding tubes are placed at young ages. Patients with childhood onset of disorders with predictable progression of the disease process and impaired swallowing may benefit from early versus late placement of feeding tubes.

  6. Thalidomide Effects in Patients with Hereditary Hemorrhagic Telangiectasia During Therapeutic Treatment and in Fli-EGFP Transgenic Zebrafish Model.

    Science.gov (United States)

    Peng, Hong-Ling; Yi, Yi-Fang; Zhou, Shun-Ke; Xie, Si-Si; Zhang, Guang-Sen

    2015-11-20

    Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant disease characterized by recurrent epistaxis, mucocutaneous telangiectasia, and arteriovenous malformations. The efficacy of traditional treatments for HHT is very limited. The aim of this study was to investigate the therapeutic role of thalidomide in HHT patients and the effect in FLI-EGFP transgenic zebrafish model. HHT was diagnosed according to Shovlin criteria. Five HHT patients were treated with thalidomide (100 mg/d). The Epistaxis Severity Score (ESS), telangiectasia spots, and hepatic computed tomography angiography (CTA) were used to assess the clinical efficacy of thalidomide. The Fli-EGFP zebrafish model was investigated for the effect of thalidomide on angiogenesis. Dynamic real-time polymerase chain reaction assay, ELISA and Western blotting from patient's peripheral blood mononuclear cells and plasma were used to detect the expression of transforming growth factor beta 3 (TGF-β3) messenger RNA (mRNA) and vascular endothelial growth factor (VEGF) protein before and after 6 months of thalidomide treatment. The average ESS before and after thalidomide were 6.966 ± 3.093 and 1.799 ± 0.627, respectively (P = 0.009). The "telangiectatic spot" on the tongue almost vanished; CTA examination of case 2 indicated a smaller proximal hepatic artery and decreased or ceased hepatic artery collateral circulation. The Fli-EGFP zebrafish model manifested discontinuous vessel development and vascular occlusion (7 of 10 fishes), and the TGF-β3 mRNA expression of five patients was lower after thalidomide therapy. The plasma VEGF protein expression was down-regulated in HHT patients. Thalidomide reverses telangiectasia and controls nosebleeds by down-regulating the expression of TGF-β3 and VEGF in HHT patients. It also leads to vascular remodeling in the zebrafish model.

  7. Intra-venous bevacizumab in hereditary hemorrhagic telangiectasia (HHT): A retrospective study of 46 patients

    Science.gov (United States)

    Fargeton, Anne-Emmanuelle; Simon, Anne-Claire; Duffau, Pierre; Harle, Jean-Robert; Lavigne, Christian; Carette, Marie-France; Bletry, Olivier; Leguy, Vanessa; Lerolle, Nathalie; Roux, Dominique; Lambert, Marc; Chinet, Thierry; Bonnet, Delphine; Dupuis-Girod, Sophie; Rivière, Sophie

    2017-01-01

    Background Bevacizumab, an anti-VEGF monoclonal antibody, has recently emerged as a new option for severe forms of hereditary hemorrhagic telangiectasia (HHT). Its utilization in this orphan disease has rapidly spread despite the lack of randomized trials and international guidelines. The objective of this study is to report the main clinical data (baseline characteristics, dose schedule, efficacy, adverse events and deaths) of HHT patients treated by intravenous bevacizumab in France. Methods Retrospective observational study of HHT patients treated with bevacizumab for a severe form of the disease in the 14 centers of the French HHT network. Results Forty-six patients (median age: 68 years) were treated between March 2009 and May 2015. Ten patients were treated for high output cardiac failure, 20 patients for severe hemorrhages and 16 for both indications. The standard protocol (6 infusions of 5mg/kg every 2 weeks) was initially used in 89% of the cases but diverse strategies were subsequently applied. A clinical improvement was noted by the referent physician for 74% of the patients with a median effect’s duration of 6 months. Wound healing complications led to 2 amputations. Arthralgia/arthritis and arterial hypertension occurred in 5 patients each. One third of the patients were dead at the time of the final update, coherently with age and the poor prognosis of these highly symptomatic patients. Conclusion Intravenous bevacizumab seems to provide a clinical benefice in severe HHT patients. Precautions concerning wound healing and vascular pathologies must be respected. Prospective double blinded versus placebo trials are needed. PMID:29190827

  8. Intra-venous bevacizumab in hereditary hemorrhagic telangiectasia (HHT: A retrospective study of 46 patients.

    Directory of Open Access Journals (Sweden)

    Alexandre Guilhem

    Full Text Available Bevacizumab, an anti-VEGF monoclonal antibody, has recently emerged as a new option for severe forms of hereditary hemorrhagic telangiectasia (HHT. Its utilization in this orphan disease has rapidly spread despite the lack of randomized trials and international guidelines. The objective of this study is to report the main clinical data (baseline characteristics, dose schedule, efficacy, adverse events and deaths of HHT patients treated by intravenous bevacizumab in France.Retrospective observational study of HHT patients treated with bevacizumab for a severe form of the disease in the 14 centers of the French HHT network.Forty-six patients (median age: 68 years were treated between March 2009 and May 2015. Ten patients were treated for high output cardiac failure, 20 patients for severe hemorrhages and 16 for both indications. The standard protocol (6 infusions of 5mg/kg every 2 weeks was initially used in 89% of the cases but diverse strategies were subsequently applied. A clinical improvement was noted by the referent physician for 74% of the patients with a median effect's duration of 6 months. Wound healing complications led to 2 amputations. Arthralgia/arthritis and arterial hypertension occurred in 5 patients each. One third of the patients were dead at the time of the final update, coherently with age and the poor prognosis of these highly symptomatic patients.Intravenous bevacizumab seems to provide a clinical benefice in severe HHT patients. Precautions concerning wound healing and vascular pathologies must be respected. Prospective double blinded versus placebo trials are needed.

  9. Donor-derived brain tumor following neural stem cell transplantation in an ataxia telangiectasia patient.

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    Ninette Amariglio

    2009-02-01

    Full Text Available BACKGROUND: Neural stem cells are currently being investigated as potential therapies for neurodegenerative diseases, stroke, and trauma. However, concerns have been raised over the safety of this experimental therapeutic approach, including, for example, whether there is the potential for tumors to develop from transplanted stem cells. METHODS AND FINDINGS: A boy with ataxia telangiectasia (AT was treated with intracerebellar and intrathecal injection of human fetal neural stem cells. Four years after the first treatment he was diagnosed with a multifocal brain tumor. The biopsied tumor was diagnosed as a glioneuronal neoplasm. We compared the tumor cells and the patient's peripheral blood cells by fluorescent in situ hybridization using X and Y chromosome probes, by PCR for the amelogenin gene X- and Y-specific alleles, by MassArray for the ATM patient specific mutation and for several SNPs, by PCR for polymorphic microsatellites, and by human leukocyte antigen (HLA typing. Molecular and cytogenetic studies showed that the tumor was of nonhost origin suggesting it was derived from the transplanted neural stem cells. Microsatellite and HLA analysis demonstrated that the tumor is derived from at least two donors. CONCLUSIONS: This is the first report of a human brain tumor complicating neural stem cell therapy. The findings here suggest that neuronal stem/progenitor cells may be involved in gliomagenesis and provide the first example of a donor-derived brain tumor. Further work is urgently needed to assess the safety of these therapies.

  10. Pulmonary arterial hypertension and portal hypertension in a patient with hereditary hemorrhagic telangiectasia.

    Science.gov (United States)

    Pousada, Guillermo; Baloira, Adolfo; Valverde, Diana

    2015-03-15

    Pulmonary arterial hypertension (PAH) is a rare disease that could be inherited with an autosomal dominant pattern. Mutations in BMPR2 gene are described in over 70% of cases, although other genes are involved in lesser extend in PAH. Hereditary hemorrhagic telangiectasia (HHT) is another rare autosomal dominant disease. PAH is a rare complication of HHT that occurs in less than 1% of cases. Liver cirrhosis with portal hypertension is also associated with the presence of PAHs in 1-2% of cases. We present here a patient with HHT who developed PAH shortly after showing portal hypertension. Some genes (BMPR2, ACVRL1, ENG) seem to play an important role in PAH pathogenesis. We analyzed these genes, detecting mutations in BMPR2 gene (c.1021G>A (V341L), c.327G>A (p.Q109Q)), ACVRL1 (c.313+20C>A, c.1502+7A>G) and ENG (c.498G>A (Q166Q)). The patient also had 3 polymorphisms in the TRPC6 gene (c.1-361A>T, c.1-254C>G, c.1-218C>T). The study of these genes will help us to identify and track individuals susceptible for developing PAH associated with other diseases. Copyright © 2014 Elsevier España, S.L.U. All rights reserved.

  11. Is age a risk factor for liver disease and metabolic alterations in ataxia Telangiectasia patients?

    Science.gov (United States)

    Paulino, Talita Lemos; Rafael, Marina Neto; Hix, Sonia; Shigueoka, David Carlos; Ajzen, Sergio Aron; Kochi, Cristiane; Suano-Souza, Fabíola Isabel; da Silva, Rosangela; Costa-Carvalho, Beatriz T; Sarni, Roseli O S

    2017-08-04

    Ataxia telangiectasia (A-T) is a neurodegenerative disease that leads to mitochondrial dysfunction and oxidative stress. Insulin resistance (IR), type 2 diabetes and the risk for development of cardiovascular disease was recently associated as an extended phenotype of the disease. We aimed to assess IR; liver involvement; carotid intima-media thickness (cIMT) and metabolic alterations associated to cardiovascular risk in A-T patients, and relate them with age. Glucose metabolism alterations were found in 54.6% of the patients. Hepatic steatosis was diagnosed in 11/17 (64.7%) A-T patients. AST/ALT ratio > 1 was observed in 10/17 (58.8%). A strong positive correlation was observed between insulin sum concentrations with ALT (r = 0.782, p < 0.004) and age (r = 0.818, p = 0.002). Dyslipidemia was observed in 55.5% of the patients. The apolipoprotein (Apo-B)/ApoA-I ratio (r = 0.619; p < 0.01), LDL/HDL-c (r = 0.490; p < 0.05) and the Apo-B levels (r = 0.545; p < 0.05) were positively correlated to cIMT. Metabolic disorders implicated in cardiovascular and liver diseases are frequently observed in adolescent A-T patients and those tend to get worse as they become older. Therefore, nutritional intervention and the use of drugs may be necessary.

  12. Impact of subclinical haemorrhage on the pituitary gland in patients with pituitary adenomas.

    Science.gov (United States)

    Kinoshita, Yasuyuki; Tominaga, Atsushi; Usui, Satoshi; Arita, Kazunori; Sugiyama, Kazuhiko; Kurisu, Kaoru

    2014-05-01

    Advanced magnetic resonance imaging (MRI) and optical instruments for surgery frequently demonstrate subclinical haemorrhage in pituitary adenomas; however, the effects of subclinical haemorrhage on pituitary glands remain unclear. We sought to clarify the pituitary function in patients with subclinical pituitary adenoma haemorrhage (SPAH). Between January 2006 and December 2012, we retrospectively reviewed 328 consecutive patients who underwent surgery for pituitary adenoma. SPAH was defined as an intratumoral haemorrhage based on both 3 tesla MRI and operative findings, with no clinical symptoms of acute pituitary adenoma apoplexy. The pituitary dysfunction assessed using pre- and postoperative provocative tests was investigated in patients categorized into three groups: nonapoplectic adenoma, adenoma with SPAH and adenoma with clinical apoplexy. The main outcome measure was the incidence of pituitary dysfunction. The overall incidence of nonapoplectic adenomas, adenomas with SPAH and adenomas with clinical apoplexy was 82·3%, 14·3% and 3·4%, respectively. Clinical pituitary apoplexy frequently occurred in male patients with large nonfunctioning adenomas, causing pituitary dysfunction. Contrastingly, the incidence of SPAH was significantly higher in the patients with prolactinoma (P = 0·0260), including those with relatively small adenomas (P = 0·0007). No medications, such as dopamine agonists or somatostatin analogues, were observed to affect the occurrence of SPAH. No deterioration of the pituitary function was observed in the SPAH patients in comparison with the patients with nonapoplectic adenoma, and the size of the haematoma occupying the pituitary adenoma did not exhibit any relationships with the deterioration of the pituitary function. Furthermore, SPAH caused no deterioration of the pituitary function after a surgery based on the postoperative provocation tests. Subclinical pituitary adenoma haemorrhage does not cause any added dysfunction in

  13. Human iPSC-Derived Cerebellar Neurons from a Patient with Ataxia-Telangiectasia Reveal Disrupted Gene Regulatory Networks

    Directory of Open Access Journals (Sweden)

    Sam P. Nayler

    2017-10-01

    Full Text Available Ataxia-telangiectasia (A-T is a rare genetic disorder caused by loss of function of the ataxia-telangiectasia-mutated kinase and is characterized by a predisposition to cancer, pulmonary disease, immune deficiency and progressive degeneration of the cerebellum. As animal models do not faithfully recapitulate the neurological aspects, it remains unclear whether cerebellar degeneration is a neurodevelopmental or neurodegenerative phenotype. To address the necessity for a human model, we first assessed a previously published protocol for the ability to generate cerebellar neuronal cells, finding it gave rise to a population of precursors highly enriched for markers of the early hindbrain such as EN1 and GBX2, and later more mature cerebellar markers including PTF1α, MATH1, HOXB4, ZIC3, PAX6, and TUJ1. RNA sequencing was used to classify differentiated cerebellar neurons generated from integration-free A-T and control induced pluripotent stem cells. Comparison of RNA sequencing data with datasets from the Allen Brain Atlas reveals in vitro-derived cerebellar neurons are transcriptionally similar to discrete regions of the human cerebellum, and most closely resemble the cerebellum at 22 weeks post-conception. We show that patient-derived cerebellar neurons exhibit disrupted gene regulatory networks associated with synaptic vesicle dynamics and oxidative stress, offering the first molecular insights into early cerebellar pathogenesis of ataxia-telangiectasia.

  14. Intensive care management of patients with severe intracerebral haemorrhage after endovascular treatment of brain arteriovenous malformations

    Energy Technology Data Exchange (ETDEWEB)

    Keller, E.; Yonekawa, Y.; Imhof, H.G. [Department of Neurosurgery, University Hospital, Zuerich (Switzerland); Tanaka, M.; Valavanis, Anton [Institute of Neuroradiology, University Hospital, Zuerich (Switzerland)

    2002-06-01

    We studied the impact of emergency neurosurgery and intensive care on the outcome for patients with severe intracerebral haemorrhage after endovascular treatment of brain arteriovenous malformations (AVMs). We reviewed the case notes of 18 patients with severe haemorrhage after embolisation of a brain AVM between 1986 and 2001. During this period the treatment changed: before 1993, these patients were not surgically treated, and they died, while after 1994, all patients underwent emergency surgery. We established a standardised protocol for emergency treatment and intensive care in May 1998, and emergency surgery was performed as soon as possible after the onset of symptoms of haemorrhage. Postoperative intensive care was according to a standardised regime. During these 15 years, 24 out of 605 patients undergoing 1066 interventions had a haemorrhage during or after the procedure, of which 18 were severe (3% of patients, 1.7% of interventions). All patients had a severe clinical deficit (mean Glasgow coma scale 4.2); eight had uni- or bilateral mydriasis. From 1989 to April 1998 four (31%) of 13 patients died, one (7.5%) remained in a vegetative state and eight (61.5%) made a good recovery. All five patients treated between 1998 and 2001 had a favourable outcome. The mean time from onset of the symptoms of haemorrhage to reaching the operation room was 129 min between 1989 and 1998 and 24 min between 1998 and 2001. Standardised emergency treatment and intensive care with early resuscitation, minimal radiological exploration before rapid surgery improved the outcome. A short time between the onset of the symptoms of haemorrhage and evacuation of the haematoma may be the most important factor for a favourable outcome. (orig.)

  15. Anesthetic management of a patient with hereditary hemorrhagic telangiectasia (Rendu-Osler-Weber syndrome): case report

    OpenAIRE

    Goulart, Alexandre Palmeira; Moro, Eduardo Toshiyuki; Guasti, Valter Moreno; Colares, Régis Faria

    2009-01-01

    JUSTIFICATIVA E OBJETIVOS: A telangiectasia hemorrágica hereditária (THH), também conhecida como síndrome de Rendu-Osler-Weber, é uma doença autossômica dominante, caracterizada por displasia vascular mucocutânea e visceral associada a episódios freqüentes de epistaxe e sangramentos gastrintestinais. O objetivo do presente relato foi descrever a anestesia em paciente portador dessa síndrome. RELATO DO CASO: Paciente do sexo masculino, 25 anos, submetido à correção cirúrgica de fratura de órbi...

  16. Erythropoietin in patients with aneurysmal subarachnoid haemorrhage: a double blind randomised clinical trial

    DEFF Research Database (Denmark)

    Springborg, J B; Møller, C; Gideon, P

    2007-01-01

    BACKGROUND: Erythropoietin (EPO) is neuroprotective in experimental models of stroke and subarachnoid haemorrhage (SAH) and possibly in patients with thromboembolic stroke. We studied the efficacy and safety of EPO in patients with SAH. METHODS: A larger scale clinical trial was planned...... no statistically significant group differences in the primary or secondary outcome measures. EPO was well tolerated. CONCLUSIONS: Beneficial effects of EPO in patients with SAH cannot be excluded or concluded on the basis of this study and larger scale trials are warranted....

  17. [Patients with subarachnoid haemorrhage in poor grade neurological status: Study of prognostic factors].

    Science.gov (United States)

    Sosa-Pérez, Coralia; Morera-Molina, Jesús; Espino-Postigo, Carlos; Jiménez-O'Shanahan, Aruma

    2015-01-01

    To evaluate and predict factors influencing prognosis and/or clinical outcome at 6 months in patients with spontaneous subarachnoid haemorrhage, World Federation of Neurosurgical Societies (WFNS) grades iv and v. This was a retrospective study of a consecutive series of 394 patients admitted to our hospital with clinical and radiological diagnosis of spontaneous subarachnoid haemorrhage, from 1 January 1999 to 30 June 2009. We selected 121 patients who met the criteria of being in WFNS grades iv or v before treatment; 3 patients were excluded due to loss of tracking. The outcome variable was assessed 6 months after the event using the Glasgow Outcome Scale. A P valueGlasgow Coma Scale lower than 7 points (Pde Neurocirugía. Published by Elsevier España. All rights reserved.

  18. First serological evidence of Crimean-Congo haemorrhagic fever in febrile patients in Mozambique

    OpenAIRE

    Argentina Felisbela Muianga; Robert Watson; Anitha Varghese; Inocencio Salvador Chongo; Sadia Ali; Vanessa Monteiro; Flora Inalda; Imelda Chelene; Virgilio António; Roger Hewson; Eduardo Samo Gudo

    2017-01-01

    Objective: Despite its geographical spread, the epidemiology of Crimean-Congo haemorrhagic fever (CCHF) in Sub-Saharan Africa is incompletely understood and its occurrence in Mozambique is unknown. This study was conducted with the aim of investigating the occurrence of CCHF virus (CCHFV) among febrile patients attending an outpatient appointment clinic at three separate primary health care centres in Mozambique. Methods: Serum samples were collected from a total of 300 febrile patients ag...

  19. Amplatzer Vascular Plugs Versus Coils for Embolization of Pulmonary Arteriovenous Malformations in Patients with Hereditary Hemorrhagic Telangiectasia

    Energy Technology Data Exchange (ETDEWEB)

    Tau, Noam, E-mail: taunoam@gmail.com; Atar, Eliyahu [Rabin Medical Center – Beilinson and HaSharon Campuses, Department of Diagnostic Imaging (Israel); Mei-Zahav, Meir [Schneider Children’s Medical Center of Israel, Department of Pulmonology and National HHT Center (Israel); Bachar, Gil N. [Rabin Medical Center – Beilinson and HaSharon Campuses, Department of Diagnostic Imaging (Israel); Dagan, Tamir; Birk, Einat; Bruckheimer, Elchanan [Schneider Children’s Medical Center of Israel, Institute of Pediatric Cardiology (Israel)

    2016-08-15

    PurposeCoil embolization of pulmonary arteriovenous malformations (PAVMs) has a high re-canalization/re-perfusion rate. Embolization with Amplatzer plugs has been previously described, but the long-term efficacy is not established. This study reports the experience of a referral medical center with the use of coils and Amplatzer plugs for treating PAVMs in patients with hereditary hemorrhagic telangiectasia.MethodsThe study was approved by the Institutional Review Board with waiver of informed consent. The cohort included all patients who underwent PAVM embolization in 2004–2014 for whom follow-up imaging scans were available. The medical files were retrospectively reviewed for background data, embolization method (coils, Amplatzer plugs, both), and complications. Re-canalization of treated PAVMs was assessed from intrapulmonary angiograms (following percutaneous procedures) or computed tomography angiograms. Fisher’s exact test and Pearson Chi-squared test or t test were used for statistical analysis, with significance at p < 0.05.Results16 patients met the study criteria. Imaging scans were available for 63 of the total 110 PAVMs treated in 41 procedures. Coils were used for embolization in 37 PAVMs, Amplatzer plugs in 21, and both in five. Median follow-up time was 7.7 years (range 1.4–18.9). Re-canalization was detected in seven vessels, all treated with coils; there were no cases of re-canalization in plug-occluded vessels (p = 0.0413).ConclusionThe use of Amplatzer plugs for the embolization of PAVMs in patients with hemorrhagic telangiectasia is associated with a significantly lower rate of re-canalization of feeding vessels than coils. Long-term prospective studies are required to confirm these findings.

  20. Changes in self-efficacy, collective efficacy and patient outcome following interprofessional simulation training on postpartum haemorrhage.

    Science.gov (United States)

    Egenberg, Signe; Øian, Pål; Eggebø, Torbjørn Moe; Arsenovic, Mirjana Grujic; Bru, Lars Edvin

    2017-10-01

    To examine whether interprofessional simulation training on management of postpartum haemorrhage enhances self-efficacy and collective efficacy and reduces the blood transfusion rate after birth. Postpartum haemorrhage is a leading cause of maternal morbidity and mortality worldwide, although it is preventable in most cases. Interprofessional simulation training might help improve the competence of health professionals dealing with postpartum haemorrhage, and more information is needed to determine its potential. Multimethod, quasi-experimental, pre-post intervention design. Interprofessional simulation training on postpartum haemorrhage was implemented for midwives, obstetricians and auxiliary nurses in a university hospital. Training included realistic scenarios and debriefing, and a measurement scale for perceived postpartum haemorrhage-specific self-efficacy, and collective efficacy was developed and implemented. Red blood cell transfusion was used as the dependent variable for improved patient outcome pre-post intervention. Self-efficacy and collective efficacy levels were significantly increased after training. The overall red blood cell transfusion rate did not change, but there was a significant reduction in the use of ≥5 units of blood products related to severe bleeding after birth. The study contributes to new knowledge on how simulation training through mastery and vicarious experiences, verbal persuasion and psychophysiological state might enhance postpartum haemorrhage-specific self-efficacy and collective efficacy levels and thereby predict team performance. The significant reduction in severe postpartum haemorrhage after training, indicated by reduction in ≥5 units of blood transfusions, corresponds well with the improvement in collective efficacy, and might reflect the emphasis on collective efforts to counteract severe cases of postpartum haemorrhage. Interprofessional simulation training in teams may contribute to enhanced prevention and

  1. Progressive interstitial renal fibrosis due to Chinese herbs in a patient with calcinosis Raynaud esophageal sclerodactyly telangiectasia (CREST) syndrome.

    Science.gov (United States)

    Nishimagi, E; Kawaguchi, Y; Terai, C; Kajiyama, H; Hara, M; Kamatani, N

    2001-10-01

    A 58-year-old woman with calcinosis Raynaud esophageal sclerodactyly telangiectasia (CREST) syndrome presented with slowly progressive renal dysfunction. She was normotensive with normal plasma renin activity and lacking symptoms of vasculitis. Mild proteinuria was of tubular origin, but serological tests and an absence of sicca symptoms excluded the possibility of Sjögren's syndrome. Light microscopic study of renal biopsy showed interstitial fibrosis with ectasia and degeneration of proximal tubule and lymphocyte infiltration. There were no remarkable changes in the glomeruli. Chromatographic analysis of the Chinese herbs regimen that she had been taking for several years demonstrated aristolochic acid. She was diagnosed as Chinese herbs nephropathy. Therapy with oral prednisolone was markedly effective in improving renal function and anemia. To our knowledge, this is the first report of Chinese herbs nephropathy complicating connective tissue disease. It is important to consider the possibility of Chinese herbs nephropathy when patients treated with Chinese herbs develop renal dysfunction.

  2. When and in which patients can anticoagulation be resumed after intracerebral haemorrhage?

    Directory of Open Access Journals (Sweden)

    Marco Marietta

    2011-08-01

    Full Text Available Whether to resume the anticoagulant or the antiaggregant therapy after an episode of major haemorrhage is a difficult dilemma for the physician. The physician has to take into consideration two major questions: whether the benefits of restarting anticoagulation outweigh the risk, and if so, when and how should anticoagulation be restarted. Although some case reports suggest that anticoagulation can be withheld safely for short periods after ICH, even in patients with mechanical heart valves, it is still not clear if long-term anticoagulation can be safely reinstituted after haemorrhage, for example in patients with atrial fibrillation. In fact, no large and well-conducted randomised clinical trials are available, and there is lack of strong evidence on which guidelines recommendations can be based. The article summarise the available literature findings. Finally, a protocol is suggested which may represent a useful tool for assessing treatment options.

  3. Henoch-Schönlein purpura with intracerebral haemorrhage in an adult patient: a case report

    Directory of Open Access Journals (Sweden)

    Karamadoukis Lazarus

    2008-06-01

    Full Text Available Abstract Introduction Henoch-Schönlein purpura is a small vessel vasculitis that affects mainly the skin, joints, gastrointestinal tract and kidneys. The central nervous system is also occasionally affected, although the majority of patients experience only mild symptoms such as headaches and behavioural changes. Intracerebral haemorrhage is a rare complication of Henoch-Schönlein purpura that so far has mainly been described in children and young adolescence. Case presentation We describe a 42-year-old man with Henoch-Schönlein purpura who developed an acute intracerebral haemorrhage that coincided with a reactivation of his vasculitis and the development of renal failure following discontinuation of steroids. In this patient, both the Henoch-Schönlein purpura and his neurological symptoms were successfully treated with intravenous cyclophosphamide and methylprednisolone, followed by a short course of oral cyclophosphamide and long-term oral prednisolone. His renal function also recovered sufficiently not to require renal replacement therapy. Conclusion The management of Henoch-Schönlein nephritis remains unclear, especially in the presence of severe complications such as intracerebral haemorrhage. We describe a successful outcome in such a patient.

  4. Abnormal peri-operative haemorrhage in asymptomatic patients is ...

    African Journals Online (AJOL)

    Accordingly, we undertook two studies to detertnine whether it could be justified in patients without a history of abnormal bleeding. In the first of these, 45 of 159 patients were excluded because of aspirin ingestion and a further 3 because of positive bleeding history so that prothrombin time, activated partial thromboplastin ...

  5. Recurrent gastrointestinal hemorrhage in treatment with dasatinib in a patient showing SMAD4 mutation with acute lymphoblastic leukemia Philadelphia positive and juvenile polyposis hereditary hemorrhagic telangiectasia syndrome

    Directory of Open Access Journals (Sweden)

    Chiara Sartor

    2013-07-01

    Full Text Available We report a case of a patient affected by juvenile polyposis and hereditary hemorrhagic telangiectasia linked to a SMAD4 mutation who developed acute lymphoblastic leukemia positive for the Philadelphia chromosome translocation and with a complex karyotype. During the treatment with the tyrosine kinase inhibitor dasatinib the patient presented recurrent severe gastrointestinal hemorrhages linked to the genetic background and aggravated by thrombocytopenia.

  6. Intravenous Bevacizumab Therapy in a Patient with Hereditary Hemorrhagic Telangiectasia, ENG E137K, Alcoholic Cirrhosis, and Portal Hypertension

    Directory of Open Access Journals (Sweden)

    Luigi F. Bertoli

    2017-05-01

    Full Text Available Intravenous bevacizumab decreased mucosal bleeding in some patients with hereditary hemorrhagic telangiectasia (HHT. We treated a 47-year-old male who had HHT, severe epistaxis, and gastrointestinal bleeding, alcoholic cirrhosis, and portal hypertension with intravenous bevacizumab 2.5 mg/kg every 2 weeks. We tabulated these measures weekly during weeks 1–33 (no bevacizumab; 34–57 (bevacizumab; and 58–97 (no bevacizumab: hemoglobin (Hb levels; platelet counts; units of transfused packed erythrocytes (PRBC units; and quantities of iron infused as iron dextran to support erythropoiesis. We performed univariate and multivariable analyses. We sequenced his ENG and ACVRL1 genes. Epistaxis and melena decreased markedly during bevacizumab treatment. He reported no adverse effects due to bevacizumab. Mean weekly Hb levels were significantly higher and mean weekly PRBC units and quantities of intravenous iron were significantly lower during bevacizumab treatment. We performed a multiple regression on weekly Hb levels using these independent variables: bevacizumab treatment (dichotomous; weekly platelet counts; weekly PRBC units; and weekly quantities of intravenous iron. There was 1 positive association: (bevacizumab treatment; p = 0.0046 and 1 negative association (PRBC units; p = 0.0004. This patient had the novel ENG mutation E137K (exon 4; c.409G→A. Intravenous bevacizumab treatment 2.5 mg/kg every 2 weeks for 24 weeks was well-tolerated by a patient with HHT due to ENG E137K and was associated with higher weekly Hb levels and fewer weekly PRBC units.

  7. Nutritional status of patients with ataxia-telangiectasia: A case for early and ongoing nutrition support and intervention.

    Science.gov (United States)

    Ross, Lynda J; Capra, Sandra; Baguley, Brenton; Sinclair, Kate; Munro, Kate; Lewindon, Peter; Lavin, Martin

    2015-08-01

    Ataxia-telangiectasia (A-T) is a rare genomic syndrome resulting in severe disability. Chronic childhood disorders can profoundly influence growth and development. Nutrition-related issues in A-T are not well described, and there are no nutritional guidelines. This study investigated the nutrition-related characteristics and behaviours of Australian A-T patients attending a national clinic. A cross-sectional analysis of 13 A-T patients (nine females; aged: 4-23 years): nutritional status was assessed by anthropometric and body cell mass (BCM) calculations. Parents reported their child's diet history and physical and behavioural factors that affect nutrition including fatigue and need for assistance. Ten (77%) had short stature (height for age z scores underweight for height (weight/height z scores nutritional barriers as chronic tiredness and the need for care giver assistance with meals. This study confirms profound malnutrition in Australian A-T patients. Poor intakes and diet quality suggest the need for early nutrition intervention. Ongoing support for families and early discussions on tube feeding are required to address changing needs in childhood and likely nutritional decline into adulthood. A prospective study is required to assess feasibility and effectiveness of nutrition interventions in young people with A-T. © 2015 The Authors. Journal of Paediatrics and Child Health © 2015 Paediatrics and Child Health Division (Royal Australasian College of Physicians).

  8. [Ataxia telangiectasia: review of 13 new cases].

    Science.gov (United States)

    Valbuena, O; Póo, P; Campistol, J; Vernet, A; Fernández-Alvarez, E; Sierra, I; Gean, E

    1996-01-01

    We report the review of 13 patients who were diagnosed of ataxia telangiectasia before 6 years of age. All of them manifested cerebelous ataxia, oculocutaneus telangiectasias (11), sinopulmonary infections (9), dystonia (9), oculomotor apraxia (9) and Burkitt linfoma (1). We analyse the most common presentation of the disease in early stages and the complementary studies performed. The prompt diagnosis allow us a better control of infections, malignant process and finally the possibility of genetic counseling.

  9. Disseminated cryptococcosis in an apparently immunocompetent patient presenting with primary intraventricular haemorrhage

    Science.gov (United States)

    Pal, Partha; Ray, Sayantan; Patra, Sisir Kumar; Mukherjee, Debabrata

    2015-01-01

    Disseminated cryptococcosis is uncommon and almost always occurs in HIV-infected patients. However, cryptococcosis can also be found in patients of organ transplantation, in those on disease modifying agents for rheumatological conditions and in patients with underlying immunodeficiency. Cryptococcal infection may occur in an immunocompetent patient, but the pathogenic strain is usually Cryptococcus gattii, and not C. neoformans. However, disseminated disease, especially cerebral involvement in the form of primary intraventricular haemorrhage, is exceedingly rare. We report a case of disseminated cryptococcosis with cutaneous, cerebral and bone marrow involvement in an HIV-negative, apparently immunocompetent patient. Although the patient did not have the usual immunocompromising diseases, there were clinical signs possibly indicating a weakened immune system. This report highlights the need for awareness of disseminated cryptococcosis among patients with no apparent immunocompromising conditions. PMID:26494714

  10. Superselective arterial embolisation with a liquid polyvinyl alcohol copolymer in patients with acute gastrointestinal haemorrhage

    Energy Technology Data Exchange (ETDEWEB)

    Lenhart, Markus; Schneider, Hans [Sozialstiftung Bamberg, Department of Diagnostic and Interventional Radiology, Bamberg (Germany); Paetzel, Christian [Klinikum Weiden, Department of Radiology, Weiden (Germany); Sackmann, Michael [Sozialstiftung Bamberg, Department of Gastroenterology, Bamberg (Germany); Jung, Ernst Michael; Schreyer, Andreas G.; Feuerbach, Stefan; Zorger, Niels [University of Regensburg, Department of Radiology, Regensburg (Germany)

    2010-08-15

    To evaluate the results of emergency embolisation in acute arterial bleeding of the gastrointestinal tract with a liquid polyvinyl alcohol copolymer from two centres. We retrospectively analysed 16 cases (15 patients) of acute arterial bleeding of the gastrointestinal tract where emergency embolotherapy was performed by using the copolymer when acute haemorrhage was not treatable with endoscopic techniques alone. Cause of haemorrhage and technical and clinical success were documented. Arterial embolotherapy was successful in all 16 cases. The technical success rate was 100%. The cause of bleeding was pancreatitis in four, graft-versus-host disease (GVHD) of the colon in three, malignancy in three, angiodysplasia in two, ulcer in two and panarteritis no dosa and trauma in one each. There were no procedure-related complications. No bowel necrosis occurred because of embolisation. In 13 cases, the patients were discharged in good condition (81%); the three patients with GVHD died because of the underlying disease. The copolymer seems to have great potential in embolotherapy of acute arterial gastrointestinal bleeding. In our series none of the patients had rebleeding at the site of embolisation and no clinically obvious bowel necrosis occurred. (orig.)

  11. [Progressive disseminated essential telangiectasia with conjunctival involvement].

    Science.gov (United States)

    Swensson, B; Swensson, O; Häring, G

    1998-02-01

    Widespread idiopathic telangiectasia (generalized essential telangiectasia) is a rare skin disorder characterized by the development and gradual spreading of telangiectases. The condition tends to affect women in their midthirties. For no apparent reason telangiectases start to appear to the lower extremities and progress steadily to involve the skin of the trunk, the arms, and the face. General health is not affected by the condition and standard laboratory tests consistently yield normal results. In February 1997 a 78-year-old lady was admitted for treatment of cataracta corticonuclearis of her left eye. Complete ophthalmological and dermatological examinations were performed. She presented marked conjunctival telangiectases of both eyes and widespread cutaneous telangiectases involving her face, trunk, arms, and legs. Complete blanching of lesional skin was observed on diascopy. The Rumpel-Leede-test was normal. Cutaneous and conjunctival changes appeared not to be associated with internal disease or bleeding abnormalities. The patient presented here shows widespread idiopathic telangiectasia with marked conjunctival involvement. Ocular changes rarely have been reported in patients with generalized essential telangiectasia to date. Concomittant conjunctival and cutaneous telangiectases may be seen in other conditions such as hereditary hemorrhagic telangiectasia (Rendu-Osler-Weber disease) and ataxia telangiectasia (Louis-Bar syndrome). The former shows an associated bleeding abnormality and is transmitted autosomal dominantly. The latter presents associated neurological signs such as cerebellar ataxia, strabism, nystagmus, apraxia, and mental retardation.

  12. The relationship of coping style with depression, burden, and life dissatisfaction in caregivers of patients with subarachnoid haemorrhage.

    Science.gov (United States)

    Boerboom, Wendy; Jacobs, Esther A C; Khajeh, Ladbon; van Kooten, Fop; Ribbers, Gerard M; Heijenbrok-Kal, Majanka H

    2014-04-01

    To assess the relationship of coping style with depression, burden and life satisfaction in caregivers of patients with subarachnoid haemorrhage. Cross-sectional study. Forty-one primary caregivers of patients with subarachnoid haemorrhage. Caregivers completed several questionnaires within the first year after subarachnoid haemorrhage. Coping style was assessed using the Utrecht Coping List, depression with the Goldberg Depression Scale (GDS), burden with the Sense of Competence Questionnaire, and life satisfaction with the Life Satisfaction Questionnaire. Caregivers had a mean burden score of 37.8 (standard deviation (SD) = 7.4) and a life satisfaction score of 5.0 (SD = 0.6). Nine caregivers (23%) had depressive symptoms (GDS ≥ 2). A palliative coping style was positively associated with the presence of depressive symptoms (odds ratio (OR) = 1.45, p = 0.016). A passive coping style was positively related to burden (ß = 1.61, p = 0.024), adjusted for morbidity of the caregiver (ß = 11.90, p = 0.013), and inversely related to life satisfaction (ß = -0.10, p = 0.025). In caregivers of patients with subarachnoid haemorrhage palliative or passive coping styles are related to depressive symptoms, higher burden and life dissatisfaction. This implies that rehabilitation programmes for patients with subarachnoid haemorrhage should also include caregiver support programmes that focus on coping style.

  13. Absceso intramedular en paciente con enfermedad de Rendu-Osler-Weber Spinal abscess in a patient with hereditary hemorrhagic telangiectasia

    Directory of Open Access Journals (Sweden)

    Lorena V Maldonado

    2007-12-01

    Full Text Available La enfermedad de Rendu-Osler-Weber es una enfermedad autosómica dominante que se manifiesta por telangiectasias en piel y mucosas y malformaciones arteriovenosas en diversos órganos. El compromiso neurológico puede ocurrir por la presencia de malformaciones arterio-venosas cerebrales, hemorragia intracraneal, y más habitualmente por accidentes cerebrovasculares isquémicos y abscesos cerebrales secundarios a embolia paradojal, en pacientes con malformaciones arteriovenosas pulmonares. El absceso intramedular es una entidad rara, inusual como complicación de la enfermedad de Rendu-Osler-Weber. Presentamos el caso de una mujer de 56 años de edad, con antecedentes familiares de enfermedad de Rendu-Osler- Weber, que ingresó a Terapia Intensiva con cuadriplejia aguda e hipoxemia, en quien se diagnosticó fístulas arteriovenosas pulmonares y un absceso intramedular cervical.Rendu-Osler-Weber syndrome is an autosomal dominant disorder characterized by multiple skin and mucosal telangiectasis and multiorgan arteriovenous malformations. Neurological manifestations may occur because of cerebral arteriovenous malformations, intracranial hemorrhage, and most commonly by ischemic stroke and brain abscess secondary to paradoxical embolization in patients with pulmonary arteriovenous malformations. Intramedullary abscess is a rare, unusual condition, in Rendu-Osler-Weber syndrome. We report the case of a 56 years old woman, with a familial history of Rendu-Osler-Weber syndrome, admitted to intensive care with acute quadriplegia and hypoxemia. Our diagnosis was pulmonary arteriovenous malformations and intramedullary abscess.

  14. Different treatment modalities for choroidal neovascularization in two eyes of one patient with bilateral type 2A parafoveal telangiectasia

    Directory of Open Access Journals (Sweden)

    Vivek Dave

    2013-01-01

    Full Text Available A 60-year-old diabetic man presented with a history of decrease in vision in both eyes since 2 weeks. At presentation, best corrected visual acuity (BCVA in the right eye (RE was 20/30 and that in the left eye (LE was 20/80. The right fundus revealed a grayish reflex, yellowish crystalline deposits and retinal pigment epithelial hyperplasia at the macula. The left fundus showed subretinal fluid and temporal subretinal hemorrhage near a grayish reflex at the macula. A diagnosis in both eyes of idiopathic macular telangiectasia (IMT type 2A with RE stage 4 and LE stage 5, choroidal neovascularization (CNVM was made. The patient was treated with photodynamic therapy (PDT in LE. The visual acuity improved to 20/40 over the next 6 months. At a 4-year follow-up, he developed decreased vision in RE diagnosed as IMT with CNV and was treated with intravitreal ranibizumab. At 6-month follow-up post injection, the vision was 20/40p.

  15. Juvenil polypose-syndrom og hereditær hæmoragisk telangiektasi hos en patient med SMAD4-mutation

    DEFF Research Database (Denmark)

    Jelsig, Anne Marie; Tørring, Pernille Mathiesen; Wikman, Friedrik

    2014-01-01

    Germ line mutations in SMAD4 can cause both juvenile polyposis syndrome and hereditary haemorrhagic telangiectasia syndrome. In this case we present a 37-year-old man with a frameshift mutation in SMAD4. The patient had multiple polyps in the gastrointestinal tract and was diagnosed with colon...... cancer at the age of 21 and gastro-oesophageal junction cancer at the age of 37. Furthermore the patient had telangiectasias and recurrent epistaxis....

  16. Clinical features and outcomes in 154 patients with haemorrhagic moyamoya disease: comparison of conservative treatment and surgical revascularization.

    Science.gov (United States)

    Huang, Zheng; Ding, Xuehu; Men, Weidong; Zhang, Dong; Zhao, Yuanli; Wang, Rong; Wang, Shuo; Zhao, Jizong

    2015-10-01

    Rebleeding is an unsatisfactory outcome for patients with haemorrhagic MMD. This study mainly investigated clinical features and outcomes in haemorrhagic MMD. A retrospective review was performed on a total of 154 patients with haemorrhagic MMD comprising 126 surgically treated and 28 conservatively treated patients. There were 102 female and 52 male patients with a mean age at the initial bleeding of 33.95 years. Preoperative rebleeding occurred in 37 patients, and multivariate Cox regression analysis demonstrated that age at the time of initial bleeding (P revascularization, perioperative ischaemic stroke occurred in five (4.03%) and intracranial bleeding in four (3.23%). The mean follow-up period was 36.12  months. Recurrent bleeding occurred in six (10.17%) of 59 patients treated with direct revascularization, seven (20.69%) of 34 patients treated with indirect revascularization, two (6.45%) of 31 patients treated with combined revascularization and six (21.43%) of 28 patients treated conservatively. Kaplan-Meier analysis revealed no statistical differences in preventing rebleeding between direct, indirect and combined revascularization and conservative treatment (P = 0.311). Age at the initial bleeding is a risk factor for rebleeding in haemorrhagic MMD. Although surgical revascularization show the tendency to decrease the rebleeding rate, there is no statistical difference between direct revascularization, indirect revascularization, combined revascularization and conservative treatment in preventing rebleeding. Further study is needed to determine whether surgical revascularization is effective in select population or with certain techniques.

  17. [Delays in the arrival of patients with subarachnoid haemorrhage at a tertiary hospital].

    Science.gov (United States)

    Pérez-Nellar, J; Scherle-Matamoros, C E; Montes de Oca, F; González-González, J L; Hierro-Garcia, D

    Patients with subarachnoid haemorrhage should be referred to a tertiary hospital as early as possible. The aim of this research was to study how long these patients take to reach a tertiary care centre in Havana. We conducted a prospective study of patients with subarachnoid haemorrhage who were admitted to the Stroke Unit at the Hospital Hermanos Ameijeiras between January 2005 and December 2007. The time of arrival at the hospital was determined and a comparison was carried out between patients who arrived after 72 hours and those who reached the hospital sooner. The sample studied comprised 94 patients. Only 34 (36%) arrived during the first three days, whereas 13 (13.8%) reached the hospital within the first 24 hours. None of the sociodemographic and clinical variables that were studied was associated with early remission. The length of time spent in hospital by patients admitted during the first 72 hours was 14.9 days, while in the other cases it was 17.57 days (p = 0.248). The greatest impact on early remission to the tertiary centre was on the outcome at discharge on the Rankin scale, which was lower in those who arrived early compared to the rest of the cases (p = 0.05); the same was true of mortality, which was 5.9% in those who arrived within the first 72 hours versus 11.7% in the others (p = 0.04). Only a third of the cases reached hospital during the first 72 hours and this group had a more favourable course.

  18. Functional and splicing defect analysis of 23 ACVRL1 mutations in a cohort of patients affected by Hereditary Hemorrhagic Telangiectasia.

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    Ferdos Alaa El Din

    Full Text Available Hereditary Hemorrhagic Telangiectasia syndrome (HHT or Rendu-Osler-Weber (ROW syndrome is an autosomal dominant vascular disorder. Two most common forms of HHT, HHT1 and HHT2, have been linked to mutations in the endoglin (ENG and activin receptor-like kinase 1 (ACVRL1or ALK1 genes respectively. This work was designed to examine the pathogenicity of 23 nucleotide variations in ACVRL1 gene detected in more than 400 patients. Among them, 14 missense mutations and one intronic variant were novels, and 8 missense mutations were previously identified with questionable implication in HHT2. The functionality of missense mutations was analyzed in response to BMP9 (specific ligand of ALK1, the maturation of the protein products and their localization were analyzed by western blot and fluorescence microscopy. The splicing impairment of the intronic and of two missense mutations was examined by minigene assay. Functional analysis showed that 18 out of 22 missense mutations were defective. Splicing analysis revealed that one missense mutation (c.733A>G, p.Ile245Val affects the splicing of the harboring exon 6. Similarly, the intronic mutation outside the consensus splicing sites (c.1048+5G>A in intron 7 was seen pathogenic by splicing study. Both mutations induce a frame shift creating a premature stop codon likely resulting in mRNA degradation by NMD surveillance mechanism. Our results confirm the haploinsufficiency model proposed for HHT2. The affected allele of ACVRL1 induces mRNA degradation or the synthesis of a protein lacking the receptor activity. Furthermore, our data demonstrate that functional and splicing analyses together, represent two robust diagnostic tools to be used by geneticists confronted with novel or conflicted ACVRL1 mutations.

  19. Potential factors, including activities of daily living, influencing home discharge for patients with putaminal haemorrhage.

    Science.gov (United States)

    Maeshima, Shinichiro; Okamoto, Sayaka; Okazaki, Hideto; Mizuno, Shiho; Asano, Naoki; Maeda, Hirofumi; Masaki, Mitsuko; Matsuo, Hiroshi; Tsunoda, Tetsuya; Sonoda, Shigeru

    2016-02-01

    Convalescent rehabilitation wards assist stroke patients in acquiring skills for activities of daily living to increase the likelihood of home discharge. However, an improvement in activities of daily living does not necessarily imply that patients are discharged home. We investigated the characteristics of patients with putaminal haemorrhage who are discharged home following convalescence in rehabilitation wards. The sample comprised 89 patients (58 men and 31 women) with putaminal haemorrhage hospitalised in the convalescent rehabilitation ward of our hospital between August 2012 and July 2013. Their age ranged from 29 to 88 years (61.9 ± 11.9 years). The lesion occurred on the right side in 48 and on the left in 41 patients. The mean period from onset to hospitalisation in the convalescent rehabilitation ward was 30.8 ± 17.2 days, and the mean hospitalisation period was 70.7 ± 31.8 days. We examined age, sex, haematoma volume, duration from onset to hospitalisation, neurological symptoms, cognitive function, functional independence measure, number of cohabitating family members and whether the patient lived alone before stroke, and the relationship among these factors and discharge destination (home or facility/hospital) was assessed. The discharge destination was home for 71 and a facility or hospital for 18 patients. Differences were observed in age, haematoma volume, neurological symptoms, cognitive function, functional independence measure score on admission and discharge, number of cohabitating family members and whether the patient lived alone before stroke for patients discharged home. Patients who required long-term care and were discharged home were more likely to be living with family members who were present during daytime. Home discharge was possible if functional independence measure score was ≥70 at the time of discharge for motor items and ≥24 for cognitive items, even if a patient lived alone before stroke. Although the

  20. Prevalence of hereditary hemorrhagic telangiectasia in patients operated for cerebral abscess

    DEFF Research Database (Denmark)

    Larsen, Lykke; Rostgaard Marker, Christian; Kjeldsen, Anette Drøhse

    2017-01-01

    previously described. A retrospective study was carried out of all patients treated surgically for CA between January 1995 and September 2014 at the Department of Neurosurgery, Odense University Hospital. The cases were then cross-referenced with the Danish HHT database. Eighty patients aged 5–79 years were...

  1. Meta-analysis of the effectiveness and safety of prophylactic use of nimodipine in patients with an aneurysmal subarachnoid haemorrhage.

    Science.gov (United States)

    Liu, Guang Jian; Luo, Jie; Zhang, Li Ping; Wang, Zheng Jun; Xu, Li Li; He, Guo Hou; Zeng, Yan Jun; Wang, Yun Fu

    2011-11-01

    Cerebral vasospasm is an important cause of poor outcomes in subarachnoid haemorrhage patients. This study was designed to assess the effectiveness and safety of nimodipine in the prevention of cerebral vasospasm in aneurysmal subarachnoid haemorrhage patients. We searched Pubmed, OVID, Embase, the Cochrane library, the stroke clinical trial registry, and the National Science and Technology Library database and collected prospective, randomised, controlled clinical trials of the prophylactic use of nimodipine for aneurismal subarachnoid haemorrhage patients. A meta-analysis was performed on the studies that met the criteria for inclusion. Eight studies met the inclusion criteria, and 1514 patients finished trial observation for the different indicators. Compared with the placebo group, fully recovered (all cases) patients increased 64% in the nimodipine group (P = 0.0002, OR = 1.64, 95 percent CI 1.26 - 2.13, NNT=-1.048), fully recovered or moderately disabled (all cases) patients increased 79 percent (P = 0.0007, OR = 1.79, 95% CI 1.28 - 2.51, NNT = -5.889), patient death (in cerebral vasospasm cases) decreased 74% (P = 0.008, OR = 0.26, 95% CI 0.09 - 0.71, NNT = 2.298), the incidence of symptomatic cerebral vasospasm decreased 46% (P nimodipine and placebo groups was not statistically significant (nimodipine group versus placebo group, recurrent haemorrhage P = 0.15, OR = 0.75, 95% CI 0.50 - 1.11; adverse reaction P = 0.59, OR = 1.13, 95% CI 0.71 - 1.81). Compared with placebo, nimodipine can significantly improve clinical outcomes, as assessed by self-formulated standards and Glasgow outcome scores, and it can significantly reduce the occurrence of symptomatic cerebral vasospasm and delayed neurological function deficits (all cases), as well as cerebral infarction, although the incidence rate of recurrent haemorrhage and adverse reactions is not significantly reduced by nimodipine.

  2. Traumatic haemorrhage of occult phaeochromocytoma in a patient with septic shock

    Directory of Open Access Journals (Sweden)

    Moazzam Mohammad

    2010-01-01

    Full Text Available Phaeochromocytoma can have a variety of presentations; however, traumatic haemorrhage into a phaeochromocytoma is a very rare presentation. Diagnosing and managing a critically ill, septic patient with a Phaeochromocytoma can be very challenging. We report a case of 53 years old man with a previously undiagnosed Phaeochromocytoma, who presented initially with bowel perforation following an assault. Following a laparotomy for bowel resection and anastomosis, whilst on the intensive care unit, he developed paroxysmal severe hypertension overlying septic shock. Phaeochromocytoma was confirmed using a computed tomography scan and urinary assay of metanephrine and catecholamines. We managed the haemodynamic instability using labetalol and noradrenaline infusions. As his septic state improved he was convention therapy and following control of his symptoms over the next few weeks, he underwent an uncomplicated right sided adrenalectomy. He made a full recovery.

  3. Prevalence of adrenal haemorrhage in non-surviving patients with burns.

    Science.gov (United States)

    Kallinen, Outi; Koljonen, Virve

    2011-11-01

    The purpose of this study was to investigate the prevalence of adrenal haemorrhage (AH) in non-surviving patients with severe burns by combining the clinical notes and autopsy data. A retrospective review of all adult (age >18 years) burn patients who died in the Helsinki Burn Centre, Helsinki, Finland during 1.1.1995 to 31.12.2005 was conducted. Patients diagnosed with AH either in the clinical charts or in the autopsy reports were sorted out. Special attention was paid to the course of events preceding death and autopsy findings. We identified four patients, creating a prevalence of 5.6%. None of the patients was diagnosed with AH alive. Three patients we diagnosed with bilateral AH, all young men. Cause of death was multiple organ failure (MOF) in all three cases. On the autopsy, they were diagnosed with 5±1 organ failures. One case of unilateral AH was established, an elderly male with hot air sauna burns. Clinical charts and autopsy data suggest idiopathic AH. The prevalence of AH is higher than previously estimated in non-surviving patients with burns. Bilateral AH occurred later then 1 week after the burn trauma. Bilateral AH always presented with sepsis, multiple organ failure and acute renal failure. Copyright © 2011 Elsevier Ltd and ISBI. All rights reserved.

  4. Effect of magnesium treatment and glucose levels on delayed cerebral ischemia in patients with subarachnoid hemorrhage : A substudy of the Magnesium in Aneurysmal Subarachnoid Haemorrhage trial (MASH-II)

    NARCIS (Netherlands)

    Leijenaar, Jolien F.; Dorhout Mees, Sanne M.|info:eu-repo/dai/nl/304818828; Algra, Ale|info:eu-repo/dai/nl/07483472X; van den Bergh, Walter M.|info:eu-repo/dai/nl/272886157; Rinkel, Gabriel J. E.|info:eu-repo/dai/nl/085712000

    2015-01-01

    Background: Magnesium treatment did not improve outcome in patients with aneurysmal subarachnoid haemorrhage in the Magnesium in Aneurysmal Subarachnoid Haemorrhage II trial. We hypothesized that high glucose levels may have offset a potential beneficial effect to prevent delayed cerebral ischemia.

  5. Procoagulant Phospholipids and Tissue Factor Activity in Cerebrospinal Fluid from Patients with Intracerebral Haemorrhage

    Directory of Open Access Journals (Sweden)

    Patrick Van Dreden

    2014-01-01

    Full Text Available Brain contains large amounts of tissue factor, the major initiator of the coagulation cascade. Neuronal apoptosis after intracerebral haemorrhage (ICH leads to the shedding of procoagulant phospholipids (PPLs. The aim of this study was to investigate the generation of PPL, tissue factor activity (TFa, and D-Dimer (D-Di in the cerebrospinal fluid (CSF at the acute phase of ICH in comparison with other brain diseases and to examine the relationship between these factors and the outcome of ICH. CSF was collected from 112 patients within 48 hours of hospital admission. Thirty-one patients with no neurological or biochemical abnormalities were used to establish reference range in the CSF (“controls”. Thirty had suffered an ICH, and 51 other neurological diagnoses [12: ventricular drainage following brain surgery, 13: viral meningitis, 15: bacterial meningitis, and 11 a neurodegenerative disease (NDD]. PPL was measured using a factor Xa-based coagulation assay and TFa by one home test. PPL, D-Di, and TFa were significantly higher (P<0.001 in the CSF of patients with ICH than in controls. TFa levels were significantly (P<0.05 higher in ICH than in patients with meningitides or NDD. Higher levels (P<0.05 of TFa were observed in patients with ICH who died than in survivors. TFa measurement in the CSF of patients with ICH could constitute a new prognostic marker.

  6. Haemorrhage from Pancreatic Pseudocysts Presenting as Upper Gastrointestinal Haemorrhage

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    Giuseppe Garcea

    2004-04-01

    Full Text Available Haemorrhage is a rare but frequently fatal complication of pancreatic pseudocysts. The high mortality associated with pancreatic haemorrhage makes prompt and aggressive management essential. Occasionally, haemorrhage may present atypically, leading to delay in its diagnosis and management. This report details a case of pancreatic haemorrhage presenting as an upper gastrointestinal bleed and discusses the subsequent management. When managing patients with pancreatic pseudocysts who present with the stigmata of upper gastrointestinal bleeding, the possibility that the bleeding originates from the pancreas must always be borne in mind.

  7. Subclinical haemorrhagic tendency exists in patients with β-thalassaemia major in early childhood

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    Abhishek Maiti

    2012-02-01

    Full Text Available BackgroundAlterations of coagulation profile have been reported in patients with β-thalassaemia major (β-TM.MethodTo investigate this in the paediatric population, we studied haemostatic parameters in pre-transfusion blood samples from 50 non-splenectomised transfusion-dependent children with β-TM (mean age 6±2.5 years and in blood from 25 healthy controls.ResultsLaboratory evaluation showed thrombocytopenia in 40%, prolongation of prothrombin time (PT in 12% and prolongation of activated partial thromboplastin time (APTT in 6% of the patients. Mean values for PT, APTT and platelet count (PC were all raised in the patient population compared with the controls. The alteration of coagulation status was significant for PT (p value 0.05. No significant liner correlation could be identified between PT, APTT, PC of the patients and interval between transfusions (in days or days since last transfusion.ConclusionThe findings from this study suggest that a subclinical haemorrhagic tendency exists in patients with β-TM at a very early age. The intrinsic pathway appears to be more affected than the extrinsic pathway.

  8. Volemic Resuscitation in a Patient with Multiple Traumas and Haemorrhagic Shock. Anti-oxidative Therapy Management in Critical Patients. A Case Report

    Directory of Open Access Journals (Sweden)

    Bedreag Ovidiu Horea

    2016-03-01

    Full Text Available A patient with multiple traumas is usually found in severe haemorrhagic shock. In 40% of the cases, the patient with multiple traumas and haemorrhagic shock cannot recover due to secondary injuries and complications associated with the shock. In this paper we present the case of a male patient 30 years old, who suffered a car accident. The patient is admitted in our hospital with haemorrhagic shock due to femur fracture, acute cranial-cerebral trauma and severe thoracic trauma with bleeding scalp wound, associated with lethal triad of trauma. The clinical and biological parameters demand massive transfusion with packed red blood cells (PRBCs, fresh frozen plasma (FFP, cryoprecipitate (CRY and colloidal solution (CO sustained with vassopresor for the haemodynamic stabilisation. During his stay in the ICU, the patient benefits from anti-oxidative therapy with Vitamin C, Vitamin E and Vitamin B1. After 14 days the clinical state of the patient improves and he is transferred in Polytrauma Department.

  9. First serological evidence of Crimean-Congo haemorrhagic fever in febrile patients in Mozambique.

    Science.gov (United States)

    Muianga, Argentina Felisbela; Watson, Robert; Varghese, Anitha; Chongo, Inocencio Salvador; Ali, Sadia; Monteiro, Vanessa; Inalda, Flora; Chelene, Imelda; António, Virgilio; Hewson, Roger; Gudo, Eduardo Samo

    2017-09-01

    Despite its geographical spread, the epidemiology of Crimean-Congo haemorrhagic fever (CCHF) in Sub-Saharan Africa is incompletely understood and its occurrence in Mozambique is unknown. This study was conducted with the aim of investigating the occurrence of CCHF virus (CCHFV) among febrile patients attending an outpatient appointment clinic at three separate primary health care centres in Mozambique. Serum samples were collected from a total of 300 febrile patients aged >5 years who were recruited between March 2015 and March 2016 at three health centres in Mozambique. Each patient was screened for IgG antibodies against CCHFV using an ELISA. Of the 300 patients enrolled, eight had samples that were positive for anti-CCHFV IgG antibodies, yielding a prevalence rate of 2.7%. This study shows for the first time that humans are exposed to CCHFV in Mozambique. It highlights the need for further work to investigate the broader extent of circulating CCHFV in the country and its clinical implications. Crown Copyright © 2017. Published by Elsevier Ltd. All rights reserved.

  10. CT diagnosis of non-traumatic subarachnoid haemorrhage in patients with brain edema

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    Avrahami, E.; Katz, R.; Rabin, A.; Friedman, V. [Department of Diagnostic Radiology, E. Wolfson Medical Center 58100 Holon (Israel)

    1998-10-01

    The aim of the study is to prove, retrospectively, that it is unlikely that the computerized tomography (CT) diagnosis of subarachnoid haemorrhage (SH) accompanies the CT diagnosis of generalized brain edema. A total of 100 comatose patients underwent CT of the brain. Of this number, 42 underwent an enhanced CT scan. In 26 patients, lumbar puncture was also performed. A control group of ten patients diagnosed with headache and having a normal CT scan underwent NECT and ECT. Measurements of the white and gray matter density in Hounsfield units (HU) were performed in all 110 cases, including the controls. The brain tissue density and the difference between the densities of the white and gray matter were lower in the cases with brain edema than in the controls. The data values were statistically significant. Small cerebral ventricles, sulci and cisterns and small differences between white and gray matter measurements were observed in the CT scans of the brain edema cases. All 100 patients had CT diagnosis of brain edema and SH. There was no bloody or xanthochromic CSF in any of the 26 lumbar punctures performed. In the enhanced CT scans, there was poor or no filling of the lateral sinuses. The compression of the lateral sinuses by the edematous brain tissue most probably results in their stenosis or obstruction due to disturbed brain venous drainage which can mimic CT findings of SH. (Copyright (c) 1998 Elsevier Science B.V., Amsterdam. All rights reserved.)

  11. Early rebleeding in patients with subarachnoid haemorrhage under intensive blood pressure management.

    Science.gov (United States)

    Oheda, Motoki; Inamasu, Joji; Moriya, Shigeta; Kumai, Tadashi; Kawazoe, Yushi; Nakae, Shunsuke; Kato, Yoko; Hirose, Yuichi

    2015-08-01

    The objective of this study was to report the frequency and clinical characteristics of early rebleeding in subarachnoid haemorrhage (SAH) patients who underwent intensive blood pressure (BP) management. Patients with aneurysmal SAH frequently present to the emergency department (ED) with elevated BP. Intensive BP management has been recommended to lower the risk of early rebleeding. However, few studies have reported the frequency of early rebleeding in SAH patients undergoing BP management. In our institution, SAH patients with systolic BP (SBP)>140 mmHg received continuous intravenous nicardipine to maintain their SBP within 120±20 mmHg after diagnosis. An attempt to implement intensive BP management was made on 309 consecutive SAH patients who presented to our ED within 48 hours of SAH onset. Overall, 24 (7.8%) of the 309 patients sustained early rebleeding. Fifteen patients sustained early rebleeding before the implementation of BP management, and the other nine sustained early rebleeding after the implementation of BP management. Therefore, the frequency of early rebleeding under BP management was 3.1% (9/294). When the 309 patients were dichotomised using ED SBP of 140 mmHg as a cut off (SBP>140 mmHg; n=239 versus SBP⩽140 mmHg; n=70), the latter counter-intuitively exhibited a significantly higher frequency of early rebleeding (5.9% versus 14.2%; p=0.04). This relatively low frequency of early rebleeding under BP management may be acceptable. However, early rebleeding is not eradicated even with strict BP control as factors other than elevated BP are involved. ED SBP within the target range (SBP⩽140 mmHg) does not negate the risk of early rebleeding. Other treatment options that reduce the risk should also be explored. Copyright © 2015 Elsevier Ltd. All rights reserved.

  12. Factors associated with poor outcome for aneurysmal subarachnoid haemorrhage in a series of 334 patients.

    Science.gov (United States)

    Rivero Rodríguez, D; Scherle Matamoros, C; Fernández Cúe, L; Miranda Hernández, J L; Pernas Sánchez, Y; Pérez Nellar, J

    This study evaluates care-related sociodemographic, clinical, and imaging factors and influences associated with outcome at discharge in patients with aneurismal subarachnoid haemorrhage. Retrospective cohort study in 334 patients treated at Hospital Hermanos Ameijeiras in Havana, Cuba between October 2005 and June 2014. Logistic regression analysis determined that the following factors were associated with higher risk of poor outcome: age older than 65 years (OR 3.51, 95% CI 1.79-5.7, P=.031), female sex (OR 2.17, 95% CI 1.22-3.84, P=.0067), systolic hypertension (OR 4.82, 95% CI 2.27-9.8, P=.0001), and hyperglycaemia at admission (OR 3.93, 95% CI 2.10-7.53, P=.0003). Certain complications were also associated with poor prognosis, including respiratory infection (OR 2.73, 95% CI 1.27-5.85, P=.0085), electrolyte disturbances (OR 3.33, 95% CI 1.33-8.28, P=.0073), hydrocephalus (OR 2.21, 95% CI 1.05-4.63, P=.0039), rebleeding (OR 16.50, 95% CI 8.24-41.24, P=.0000), symptomatic vasospasm (OR 19.00, 95% CI 8.86-41.24, P=.0000), cerebral ischaemia (OR 3.82, 95% CI 1.87-7.80, P=.000) and multiplex rebleeding (OR 6.69, 95% CI 1.35-36.39, P=.0019). Grades of iii and iv on the World Federation of Neurological Surgeons (OR 2.09, 95% CI 1.12-3.91, P=.0021) and Fisher scales (OR 5.18, 95% CI 2.65-10.29, P=.0008) were also related to poor outcome. Outcome of aneurysmal subarachnoid haemorrhage was related to age, sex, clinical status at admission to the stroke unit, imaging findings according to the Fisher scale, blood pressure, glycaemia and such complications as electrolyte disturbances, hydrocephalus, rebleeding, and multiplex rebleeding. Copyright © 2014 Sociedad Española de Neurología. Publicado por Elsevier España, S.L.U. All rights reserved.

  13. Early versus late readmission of subarachnoid haemorrhage patients into neurocritical care.

    Science.gov (United States)

    Low, Jacob C M; Welbourne, Jessie; McMillan, Helen; Whitfield, Peter C

    2016-10-01

    Subarachnoid haemorrhage (SAH) patients will typically require monitoring in a specialised Neurocritical Care Unit (NCCU) regardless of the primary treatment modality. Once discharged from NCCU, readmission within 48 h is regarded as a "failed" discharge. The aims of this study are to (1) Evaluate the readmission rate of SAH patients into NCCU, (2) Identify the indications for readmission, (3) Analyse clinical parameters on discharge between patients readmitted early and late. Retrospective observational study of the Intensive Care National Audit and Research Centre (ICNARC) database of patients from our unit diagnosed with SAH from January 2009-December 2014, who were readmitted into NCCU. Demographic data, World Federation of Neurosurgical Societies (WFNS) grade, Fisher grade, length of initial and subsequent NCCU stay, time of readmission, indication for readmission, and mortality rate data were collected. Patients were categorised by early (48 h) readmission, and their clinical parameters on NCCU discharge were statistically analysed. Five hundred and seventy-five SAH patients were admitted into NCCU, of which 49 patients (9%) were readmitted after discharge to ward-level care. The mean age of readmitted patients was 64.1 ± 11.6 years old. The most common indications were delayed cerebral ischaemia (DCI) (50%) and infection (19%). Readmitted SAH patients were typically WFNS grade I-II (n = 22) and Fisher grade III-IV (n = 44). 17 (35%) patients were readmitted early, and were older (p = 0.0049) with a lower GCS (p = 0.0077) compared to patients readmitted later. White cell count and C-reactive protein were higher in patients readmitted early, but did not reach statistical significance (p = 0.09, p = 0.07). DCI and infection were the most common indications for NCCU readmission in SAH patients. "Failed" discharged patients from NCCU are typically older with a lower GCS than patients readmitted after 48 h, and therefore

  14. The role of surgical audit in improving patient management; nasal haemorrhage: an audit study

    Directory of Open Access Journals (Sweden)

    Sipaul Fabian

    2007-09-01

    Full Text Available Abstract Background Nasal bleeding remains one of the most common Head & Neck Surgical (Ear Nose and Throat [ENT]/Oral & Maxillofacial Surgery [OMFS] emergencies resulting in hospital admission. In the majority of cases, no other intervention is required other than nasal packing, and it was felt many cases could ideally be managed at home, without further medical interference. A limited but national telephone survey of accident and emergency departments revealed that early discharge practice was identified in some rural areas and urban departments (where adverse socio-demographic factors resulted in poor patient compliance to admission or follow up, with little adverse patient sequelae. A simple nasal packing protocol was also identified. The aim of this audit was to determine if routine nasal haemorrhage (epistaxis can be managed at home with simple nasal packing; a retrospective and prospective audit. Ethical committee approval was obtained. Similar practice was identified in other UK accident and emergency centres. Literature was reviewed and best practice identified. Regional consultation and feedback with regard to prospective changes and local applicability of areas of improved practice mutually agreed upon with involved providers of care. Methods Retrospective: The Epistaxis admissions for the previous four years during the same seven months (September to March. Prospective: 60consecutive patients referred with a diagnosis of Nasal bleeding over a seven month time course (September to March. All patients were over 16, not pregnant and gave fully informed counselled consent. New Guidelines for the management of nosebleeds, nasal packing protocols (with Netcel® and discharge policy were developed at the Hospital. Training of accident and emergency and emergency ENT staff was provided together with access to adequate examination and treatment resources. Detailed patient information leaflets were piloted and developed for use. Results

  15. Germline mutations in BMP9 are not identified in a series of Danish and French patients with hereditary hemorrhagic telangiectasia

    DEFF Research Database (Denmark)

    Tørring, P. M.; Dupuis-Girod, S.; Giraud, S

    2016-01-01

    Hereditary hemorrhagic telangiectasia (HHT), an inherited vascular disorder, is, in the majority of cases (85%), caused by mutations in one of three genes (ENG, ACVRL1, and SMAD4). In the remaining group of individuals with clinical HHT, mutations have not been identified, suggesting yet...... had a different vascular-anomaly syndrome, the suspicion that BMP9 mutations might cause HHT remained. To evaluate if germline mutations in BMP9 can be identified in HHT patients, we investigated the Danish and the French Lyon cohort of mutation-negative and clinically definite HHT patients. Exons...... and exon-intron boundaries of BMP9 were analyzed by bi-directional Sanger sequencing in 28 clinical HHT patients (from 28 different families) with no pathogenic mutations in ENG, ACVRL1 or SMAD4. No mutations of potential pathogenicity were identified in BMP9. This study does not suggest that BMP9...

  16. Ataxia-Telangiectasia

    OpenAIRE

    J Gordon Millichap

    1990-01-01

    São apresentados os casos de dois irmãos com ataxia-telangiectasia, estudados sob os pontos de vista clínico, eletrencefalográfico, liquórico e encefalográfico. O autor resume os achados de diversos autores e chama a atenção para a regressão parcial da síndrome cerebelar em ambos os pacientes, fato ainda não referido na literatura.

  17. Genetics Home Reference: ataxia-telangiectasia

    Science.gov (United States)

    ... Email Facebook Twitter Home Health Conditions Ataxia-telangiectasia Ataxia-telangiectasia Printable PDF Open All Close All Enable Javascript to view the expand/collapse boxes. Description Ataxia-telangiectasia is a rare inherited disorder that affects ...

  18. Cognitive domain deficits in patients with aneurysmal subarachnoid haemorrhage at 1 year

    Science.gov (United States)

    Wong, George Kwok Chu; Lam, Sandy Wai; Ngai, Karine; Wong, Adrian; Siu, Deyond; Poon, Wai Sang; Mok, Vincent

    2013-01-01

    Background Cognitive domain deficits can occur after aneurysmal subarachnoid haemorrhage (aSAH) though few studies systemically evaluate its impact on 1-year outcomes. Objective We aimed to evaluate the pattern and functional outcome impact of cognitive domain deficits in aSAH patients at 1 year. Methods We carried out a prospective observational study in Hong Kong, during which, 168 aSAH patients (aged 21–75 years and had been admitted within 96 h of ictus) were recruited over a 26-month period. The cognitive function was assessed by a domain-specific neuropsychological assessment battery at 1 year after ictus. The current study is registered at ClinicalTrials.gov of the US National Institutes of Health (NCT01038193). Results Prevalence of individual domain deficits varied between 7% to 15%, and 13% had two or more domain deficits. After adjusting for abbreviated National Institute of Health Stroke Scale and Geriatric Depressive Scale scores, unfavourable outcome (Modified Rankin Scale 3–5) and dependent instrumental activity of daily living (Lawton Instrumental Activity of Daily Living<15) were significantly associated with two or more domain deficits and number of cognitive domain deficits at 1 year. Two or more domain deficits was independently associated with age (OR, 1.1; 95% CI 1.1 to 1.2; p<0.001) and delayed cerebral infarction (OR, 6.1; 95% CI 1.1 to 33.5; p=0.036), after adjustment for years of school education. Interpretation In patients with aSAH, cognitive domain deficits worsened functional outcomes at 1 year. Delayed cerebral infarction was an independent risk factor for two or more domain deficits at 1 year. PMID:23606736

  19. Pulmonary haemorrhage and nephritis

    African Journals Online (AJOL)

    1983-04-30

    Apr 30, 1983 ... haemorrhage and glomerulonephritis, but there was no other clinical evidence for this diagnosis and the anti-DNA antibody titre was not raised. The patient did not have granulomas or ulcers in the upper respiratory tract suggestive of Wegener's granulomatosis, which is usually more common in the 4th and.

  20. Age is not associated with intracranial haemorrhage in patients with mild traumatic brain injury and oral anticoagulation.

    Science.gov (United States)

    Sauter, Thomas C; Ziegenhorn, Stephan; Ahmad, Sufian S; Hautz, Wolf E; Ricklin, Meret E; Leichtle, Alexander Benedikt; Fiedler, Georg-Martin; Haider, Dominik G; Exadaktylos, Aristomenis K

    2016-06-01

    Patients admitted to emergency departments with traumatic brain injury (TBI) are commonly being treated with oral anticoagulants. In contrast to patients without anticoagulant medication, no guidelines, scores or recommendations exist for the management of mild traumatic brain injury in these patients. We therefore tested whether age as one of the high risk factors of the Canadian head CT rule is applicable to a patient population on oral anticoagulants. This cross-sectional analysis included all patients with mild TBI and concomitant oral anticoagulant therapy admitted to the Emergency Department, Inselspital Bern, Switzerland, from November 2009 to October 2014 (n = 200). Using a logistic regression model, two groups of patients with mild TBI on oral anticoagulant therapy were compared - those with and those without intracranial haemorrhage. There was no significant difference in age between the patient groups with (n = 86) and without (n = 114) intracranial haemorrhage (p = 0.078). In univariate logistic regression, GCS (OR = 0.419 (0.258; 0.680)) and thromboembolic event as reason for anticoagulant therapy (OR = 0.486 (0.257; 0.918)) were significantly associated with intracranial haemorrhage in patients with mild TBI and anticoagulation (all p clopidogrel ((both p > 0.05; 0.552 (0.139; 2.202) and 0.256 (0.029; 2.237), respectively). Our study found no association between age and intracranial bleeding. Therefore, until further risk factors are identified, diagnostic imaging with CCT remains necessary for mild TBI patients on oral anticoagulation of all ages, especially those with therapeutic anticoagulation because of thromboembolic events.

  1. Spinal arachnoid cyst associated with arachnoiditis following subarachnoid haemorrhage in adult patients: A case report and literature review.

    Science.gov (United States)

    Basaran, Recep; Kaksi, Mustafa; Efendioglu, Mustafa; Onoz, Mustafa; Balkuv, Ece; Kaner, Tuncay

    2015-04-01

    Arachnoiditis is an inflammatory process resulting with the fibrosis of arachnoid mater. It can vary in severity from mild thickenings to catastrophic adhesions that ruins subarachnoid space. As a result, arachnoid cysts can be formed. Arachnoid cyst induced by symptomatic spinal arachnoiditis is a rare complication of subarachnoid haemorrhages. In this article, we aimed to present a case of spinal arachnoid cyst formation following subarachnoid haemorrhage and examine similar cases in the literature. Forty-six years old, previously healthy female patient has been treated medically for headaches due to perimesencephalic subarachnoid bleeding. Approximately two and a half months later, she started to have severe headaches and diplopia. We detected hydrocephalus and performed ventriculoperitoneal shunt surgery. Two months later, she started to have complaints of weakness in her lower extremities. On neurological examination, she had paraparesis and on spinal magnetic resonance imaging she had an arachnoid cyst lengthening from C7 to T2 and compressing the spinal cord posteriorly. We performed partial laminectomy, drainage of arachnoid cyst and replacement of cystopleural T tube shunt. On follow-up, her lower extremity strength has ameliorated. She was taken into a physical therapy and rehabilitation programme. Three months later she was able to walk with a crutch. Subarachnoiditis and associated arachnoid cyst can cause severe morbidity. This rare situation (which especially occurs following subarachnoid haemorrhage of posterior fossa) should be known and physicians should keep in mind that it requires urgent surgical procedure.

  2. Does Preendoscopy Rockall Score Safely Identify Low Risk Patients following Upper Gastrointestinal Haemorrhage?

    Directory of Open Access Journals (Sweden)

    Matthew R. Johnston

    2015-01-01

    Full Text Available Objective. To determine if preendoscopy Rockall score (PERS enables safe outpatient management of New Zealanders with upper gastrointestinal haemorrhage (UGIH. Methods. Retrospective analysis of adults with UGIH over 59 consecutive months. PERS, diagnosis, demographics, need for endoscopic therapy, transfusion or surgery and 30-day mortality and 14-day rebleeding rate, and sensitivity and specificity of PERS for enabling safe discharge preendoscopy were calculated. Results. 424 admissions with UGIH. Median age was 74.3 years (range 19–93 years, with 55.1% being males. 30-day mortality was 4.6% and 14-day rebleeding rate was 6.0%. Intervention was required in 181 (46.6%: blood transfusion (147 : 37.9%, endoscopic intervention (75 : 19.3%, and surgery (8 : 2.1%. 42 (10.8% had PERS = 0 with intervention required in 15 (35.7%. Females more frequently required intervention, OR 1.73 (CI: 1.12–2.69. PERS did not predict intervention but did predict 30-day mortality: each point increase equated to an increase in mortality of OR 1.46 (CI: 1.11–1.92. Taking NSAIDs/aspirin reduced 30-day mortality, OR 0.22 (CI: 0.08–0.60. Conclusion. PERS identifies 10.8% of those with UGIH as low risk but 35.7% required intervention or died. It has a limited role in assessing these patients and should not be used to identify those suitable for outpatient endoscopy.

  3. Anaesthesia in a patient with subarachanoidal haemorrhage and high oxygen affinity haemoglobinopathy (HB york: case report

    Directory of Open Access Journals (Sweden)

    Monaca Enrico

    2012-08-01

    Full Text Available Abstract Background Approximately 90 haemoglobinopathies have been identified that result in abnormally high oxygen affinity. One of these is haemoglobinopathy York (HbY, first described in 1976. HbY causes an extreme leftward shift of the oxygen dissociation curve with the P50 value changing to 12.5 - 15.5 mmHg (normal value 26.7 mmHg, indicating that approximately half of the haemoglobin is not available as oxygen carrier. Patients with haemoglobinopathies with increased oxygen affinity could suffer from the risk developing ischaemic complications due to a lack of functional oxygen carriers. This is, to best of our knowledge, the first case report on a patient with HbY published in connection with anesthesia. Case Presentation A 42-year-old female with a severe headache and Glasgow coma scale (GCS of 15 was admitted to the neurosurgical intensive care unit with a ruptured, right sided ICA aneurysm with consecutive subarachnoid haemorrhage [Fisher III, World Federation of Neurosurgical Societies (WFNS I]. The medical history of the patient included an erythrocytosis (Hb 17.5 g/dl on the base of a high-oxygen-affinity haemoglobinopathy, called Hb York (HbY. With no time available to take special preoperative precautions, rapid blood loss occurred during the first attempt to clip the aneurysm. General transfusion procedures, according to the guidelines based on haemoglobin and haematocrit values, could not be applied due to the uncertainty in the oxygen carrier reduction. To maintain tissue oxygen supply, clinical indicators of ischaemia were instead utilized to gauge the appropriate required blood products, crystalloids and colloids replacements. Despite this, the patient survived the neurosurgical intervention without any neurological deficit. Conclusions Family members of patients with HbY (and other haemoglobinopathies with increased oxygen affinity should undergo clinical assessment, particularly if they are polycythaemic. If the diagnosis

  4. Influencing factors for high quality care on postpartum haemorrhage in the Netherlands: patient and professional perspectives

    NARCIS (Netherlands)

    Woiski, M.D.; Belfroid, E.; Liefers, J.; Grol, R.P.T.M.; Scheepers, H.C.; Hermens, R.P.M.G.

    2015-01-01

    BACKGROUND: Postpartum haemorrhage (PPH) remains a major contributor to maternal morbidity even in high resource settings, despite the development and dissemination of evidence-based guidelines and Advance-Trauma-Life-Support (ATLS) based courses for optimal management of PPH. We aimed to assess

  5. Retinal haemorrhages in- head trauma resulting from falls: differential diagnosis with non-accidental trauma in patients younger than 2 years of age.

    Science.gov (United States)

    Trenchs, V; Curcoy, A I; Morales, M; Serra, A; Navarro, R; Pou, J

    2008-07-01

    Falls are a common chief complaint among children seeking medical attention in emergency departments and are the leading cause of injuries requiring hospitalisation. Falls are also a frequent excuse to conceal cases of maltreatment in small children. Retinal haemorrhages could be a useful marker for their differential diagnosis. This study aims to determine the prevalence and characteristics of retinal haemorrhages in children with head trauma resulting from a vertical fall. This was a prospective study of children younger than 2 years of age admitted to the hospital with head trauma from a vertical fall. The circumstances of the falls and injuries were analysed. All children were evaluated by an ophthalmologist for retinal haemorrhage. One hundred fifty-four patients were included. Eighty-three percent of the falls were from a height equal to or less than 120 cm. The most common mechanism of injury was fall from a stroller followed by rolling off the bed. Sixteen children had evidence of intracranial injuries. Three patients had retinal haemorrhages (prevalence 1.9%; 95%CI, 0.4-5.6%), all unilateral, in association with severe epidural haematoma with a midline shift. The detection of retinal haemorrhages could be related to the presence of intracranial injury but not with the circumstances of the fall. Any cranial injury from a vertical fall that produces severe epidural bleeding can also cause retinal haemorrhages, mainly unilateral. The finding of diffuse and bilateral retinal haemorrhages or their presence in the absence of this type of intracranial haemorrhage must continue to point out another cause different from the fall as origin of the traumatism, being necessary to exclude non-accidental trauma.

  6. Acute haemorrhage in patients with advanced head and neck cancer: value of endovascular therapy as palliative treatment option.

    Science.gov (United States)

    Sesterhenn, Andreas M; Iwinska-Zelder, Joanna; Dalchow, Carsten V; Bien, Siegfried; Werner, Jochen A

    2006-02-01

    Acute or subacute haemorrhage is one of the most frightening complications in patients suffering from advanced head and neck cancer. Few articles report experience with superselective endovascular therapy for this purpose. Is endovascular therapy underestimated in the field of palliative head and neck cancer therapy? This study set out to investigate this question. A review was undertaken of the clinical courses of seven patients (six men, one woman) suffering from incurable, advanced head and neck cancer (four pharyngeal, two laryngeal, one neck) and treated with superselective endovascular strategies as an emergency procedure for acute bleeding. All patients were successfully treated without evidence of neurological complication. Patients reached a median survival of 20 weeks (range eight-168 weeks). Following endovascular treatment all patients were discharged from the hospital within several days. Three patients survived almost free of symptoms for several weeks and were able to stay at home with their families until their death. We conclude that in the field of palliative care, superselective endovascular therapy deserves to be considered alongside standard treatment options for the management of acute haemorrhage from advanced head and neck cancer.

  7. Guideline for the management of terminal haemorrhage in palliative care patients with advanced cancer discharged home for end-of-life care.

    Science.gov (United States)

    Ubogagu, Edith; Harris, Dylan G

    2012-12-01

    Terminal haemorrhage is a rare and distressing emergency in palliative oncology. We present an algorithm for the management of terminal haemorrhage in patients likely to receive end-of-life care at home, based on a literature review of the management of terminal haemorrhage for patients with advanced cancer, where a DNAR (do not attempt resuscitation) order is in place and the patient wishes to die at home. A literature review was conducted to identify literature on the management of terminal haemorrhage in patients with advanced cancer who are no longer amenable to active interventional/invasive procedures. Electronic databases, the grey literature, local guidelines from hospitals and hospices, and online web portals were all searched systematically. The literature review was used to formulate a management algorithm. The evidence base is very limited. A three-step practical algorithm is suggested: preparing for the event, managing the event ('ABC') and 'aftercare'. Step 1 involves the identification and optimisation of risk factors. Step 2 (the event) consists of A (assure and re-assure the patient), B (be there - above all stay with the patient) and C (comfort, calm, consider dark towels and anxiolytics if possible). Step 3 (the aftercare) involves the provision of practical and psychological support to those involved including relatives and professionals. Terminal haemorrhage is a rare yet highly feared complication of advanced cancer, for which there is a limited evidence base to guide management. The suggested three-step approach to managing this situation gives professionals a logical framework within which to work.

  8. Variation in Telangiectasia Predisposing Genes Is Associated With Overall Radiation Toxicity

    Energy Technology Data Exchange (ETDEWEB)

    Tanteles, George A. [Department of Genetics, University of Leicester, Leicester (United Kingdom); Department of Cancer Studies and Molecular Medicine, University Hospitals of Leicester, Leicester Royal Infirmary, Leicester (United Kingdom); Murray, Robert J.S. [Department of Genetics, University of Leicester, Leicester (United Kingdom); Mills, Jamie [Department of Cancer Studies and Molecular Medicine, University Hospitals of Leicester, Leicester Royal Infirmary, Leicester (United Kingdom); Barwell, Julian [Department of Genetics, University of Leicester, Leicester (United Kingdom); Department of Cancer Studies and Molecular Medicine, University Hospitals of Leicester, Leicester Royal Infirmary, Leicester (United Kingdom); Chakraborti, Prabir [Department of Clinical Oncology, Derby Hospitals NHS Foundation Trust, Derby (United Kingdom); Chan, Steve [Department of Clinical Oncology, Nottingham University Hospitals NHS Trust, Nottingham (United Kingdom); Cheung, Kwok-Leung [Division of Breast Surgery, University of Nottingham, Nottingham (United Kingdom); Ennis, Dawn [Department of Clinical Oncology, Derby Hospitals NHS Foundation Trust, Derby (United Kingdom); Khurshid, Nazish [Department of Genetics, University of Leicester, Leicester (United Kingdom); Lambert, Kelly [Department of Breast Surgery, University Hospitals of Leicester, Glenfield Hospital, Leicester (United Kingdom); Machhar, Rohan; Meisuria, Mitul [Department of Genetics, University of Leicester, Leicester (United Kingdom); Osman, Ahmed; Peat, Irene [Department of Cancer Studies and Molecular Medicine, University Hospitals of Leicester, Leicester Royal Infirmary, Leicester (United Kingdom); Sahota, Harjinder [Department of Genetics, University of Leicester, Leicester (United Kingdom); Woodings, Pamela [Department of Clinical Oncology, Derby Hospitals NHS Foundation Trust, Derby (United Kingdom); Talbot, Christopher J., E-mail: cjt14@le.ac.uk [Department of Genetics, University of Leicester, Leicester (United Kingdom); and others

    2012-11-15

    Purpose: In patients receiving radiotherapy for breast cancer where the heart is within the radiation field, cutaneous telangiectasiae could be a marker of potential radiation-induced heart disease. We hypothesized that single nucleotide polymorphisms (SNPs) in genes known to cause heritable telangiectasia-associated disorders could predispose to such late, normal tissue vascular damage. Methods and Materials: The relationship between cutaneous telangiectasia as a late normal tissue radiation injury phenotype in 633 breast cancer patients treated with radiotherapy was examined. Patients were clinically assessed for the presence of cutaneous telangiectasia and genotyped at nine SNPs in three candidate genes. Candidate SNPs were within the endoglin (ENG) and activin A receptor, type II-like 1 (ACVRL1) genes, mutations in which cause hereditary hemorrhagic telangiectasia and the ataxia-telangiectasia mutated (ATM) gene associated with ataxia-telangiectasia. Results: A total of 121 (19.1%) patients exhibited a degree of cutaneous telangiectasiae on clinical examination. Regression was used to examine the associations between the presence of telangiectasiae in patients who underwent breast-conserving surgery, controlling for the effects of boost and known brassiere size (n=388), and individual geno- or haplotypes. Inheritance of ACVRL1 SNPs marginally contributed to the risk of cutaneous telangiectasiae. Haplotypic analysis revealed a stronger association between inheritance of a ATM haplotype and the presence of cutaneous telangiectasiae, fibrosis and overall toxicity. No significant association was observed between telangiectasiae and the coinheritance of the candidate ENG SNPs. Conclusions: Genetic variation in the ATM gene influences reaction to radiotherapy through both vascular damage and increased fibrosis. The predisposing variation in the ATM gene will need to be better defined to optimize it as a predictive marker for assessing radiotherapy late effects.

  9. Diagnostic criteria for hereditary hemorrhagic telangiectasia (Rendu-Osler-Weber syndrome)

    DEFF Research Database (Denmark)

    Shovlin, C L; Guttmacher, A E; Buscarini, E

    2000-01-01

    Hereditary Hemorrhagic Telangiectasia (HHT) is easily recognized in individuals displaying the classical triad of epistaxis, telangiectasia, and a suitable family history, but the disease is more difficult to diagnosis in many patients. Serious consequences may result if visceral arteriovenous...... of the HHT Foundation International, Inc., we present consensus clinical diagnostic criteria. The four criteria (epistaxes, telangiectasia, visceral lesions and an appropriate family history) are carefully delineated. The HHT diagnosis is definite if three criteria are present. A diagnosis of HHT cannot...

  10. What Is Ataxia-Telangiectasia?

    Science.gov (United States)

    ... About A-T Research Fundraising About Us About Ataxia-telangiectasia About A-T » WHAT IS A- ... develop slurred or distorted speech, and swallowing problems. Ataxia... The onset of this ataxia marks the beginning ...

  11. Expulsive choroidal haemorrhage

    Directory of Open Access Journals (Sweden)

    Srinivasan M

    1992-01-01

    Full Text Available Expulsive choroidal haemorrhage is a dramatic and serious complication of cataract surgery that occurred in five patients out of ten thousand consecutive cataract surgeries performed by the author during the year 1989 and 1990. Report about this dreaded complication after cataract surgery are scanty and as far as I can remember I have not seen any report in Indian ophthalmic literature recently. Since cataract surgery forms the major part of intra ocular surgeries performed in our country, I thought it would be appropriate to report about this rare complication which may occur to all of us. Out of five cases 3 were males and 2 were females in the age group ranging between 45-72 years. Two eyes regained vision up to 6/12 after intra operative expulsive haemorrhage. All the eyes were salvaged by doing anterior sclerotomy. Diabetes, hypertension, glaucoma and myopia are the commonest predisposing factors.

  12. Ataxia-telangiectasia: future prospects

    Directory of Open Access Journals (Sweden)

    Chaudhary MW

    2014-09-01

    Full Text Available Mohammed Wajid Chaudhary, Raidah Saleem Al-Baradie Pediatric Neurology, Neurosciences Centre, King Fahad Specialist Hospital, Dammam, Kingdom of Saudi Arabia Abstract: Ataxia-telangiectasia (A-T is an autosomal recessive multi-system disorder caused by mutation in the ataxia-telangiectasia mutated gene (ATM. ATM is a large serine/threonine protein kinase, a member of the phosphoinositide 3-kinase-related protein kinase (PIKK family whose best-studied function is as master controller of signal transduction for the DNA damage response (DDR in the event of double strand breaks (DSBs. The DDR rapidly recognizes DNA lesions and initiates the appropriate cellular programs to maintain genome integrity. This includes the coordination of cell-cycle checkpoints, transcription, translation, DNA repair, metabolism, and cell fate decisions, such as apoptosis or senescence. DSBs can be generated by exposure to ionizing radiation (IR or various chemical compounds, such as topoisomerase inhibitors, or can be part of programmed generation and repair of DSBs via cellular enzymes needed for the generation of the antibody repertoire as well as the maturation of germ cells. AT patients have immunodeficiency, and are sterile with gonadal dysgenesis as a result of defect in meiotic recombination. In the cells of nervous system ATM has additional role in vesicle dynamics as well as in the maintenance of the epigenetic code of histone modifications. Moderate levels of ATM are associated with prolonged lifespan through resistance to oxidative stress. ATM inhibitors are being viewed as potential radiosensitizers as part of cancer radiotherapy. Though there is no cure for the disease at present, glucocorticoids have been shown to induce alternate splicing site in the gene for ATM partly restoring its activity, but their most effective timing in the disease natural history is not yet known. Gene therapy is promising but large size of the gene makes it technically difficult

  13. Acute recurrent haemorrhage of an intracranial meningioma.

    Science.gov (United States)

    Bellut, David; Nern, Christian; Burkhardt, Jan-Karl; Könü, Dilek; Bertalanffy, Helmut; Krayenbühl, Niklaus

    2011-07-01

    Meningioma-associated haemorrhages are rare. To our knowledge this is the first report of a patient with an acute two-stage haemorrhage of a benign intracranial meningioma (World Health Organization grade I) verified by cranial CT scan and histopathological examination. Early surgery with complete tumour removal led to a good outcome for the patient. Copyright © 2011 Elsevier Ltd. All rights reserved.

  14. Prehospital antiplatelet use and functional status on admission of patients with non-haemorrhagic moyamoya disease: a nationwide retrospective cohort study (J-ASPECT study)

    Science.gov (United States)

    Onozuka, Daisuke; Hagihara, Akihito; Nishimura, Kunihiro; Kada, Akiko; Nakagawara, Jyoji; Ogasawara, Kuniaki; Ono, Junichi; Shiokawa, Yoshiaki; Aruga, Toru; Miyachi, Shigeru; Nagata, Izumi; Toyoda, Kazunori; Matsuda, Shinya; Suzuki, Akifumi; Kataoka, Hiroharu; Nakamura, Fumiaki; Kamitani, Satoru; Nishimura, Ataru; Kurogi, Ryota; Sayama, Tetsuro; Iihara, Koji

    2016-01-01

    Objectives To elucidate the association between antiplatelet use in patients with non-haemorrhagic moyamoya disease before hospital admission and good functional status on admission in Japan. Design Retrospective, multicentre, non-randomised, observational study. Setting Nationwide registry data in Japan. Participants A total of 1925 patients with non-haemorrhagic moyamoya disease admitted between 1 April 2012 and 31 March 2014 in Japan. Main outcome measure We performed propensity score-matched analysis to examine the association between prehospital antiplatelet use and no significant disability on hospital admission, as defined by a modified Rankin Scale score of 0 or 1. Results Propensity-matched patients who received prehospital antiplatelet drugs were associated with a good outcome on hospital admission (OR adjusted for all covariates, 3.82; 95% CI 1.22 to 11.99) compared with those who did not receive antiplatelet drugs prior to hospital admission. Conclusions Prehospital antiplatelet use was significantly associated with good functional status on hospital admission among patients with non-haemorrhagic moyamoya disease in Japan. Our results suggest that prehospital antiplatelet use should be considered when evaluating outcomes of patients with non-haemorrhagic moyamoya disease. PMID:27008684

  15. Emergency percutaneous transcatheter embolisation of acute arterial haemorrhage.

    LENUS (Irish Health Repository)

    Keeling, A N

    2010-09-01

    The purpose of this study was to review indications, source of haemorrhage, method of embolisation and clinical outcome in patients referred to Interventional Radiology for the emergency management of acute arterial haemorrhage.

  16. Effect of magnesium treatment and glucose levels on delayed cerebral ischemia in patients with subarachnoid hemorrhage : a substudy of the Magnesium in Aneurysmal Subarachnoid Haemorrhage trial (MASH-II)

    NARCIS (Netherlands)

    Leijenaar, Jolien F.; Mees, Sanne M. Dorhout; Algra, Ale; van den Bergh, Walter M.; Rinkel, Gabriel J. E.

    2015-01-01

    BackgroundMagnesium treatment did not improve outcome in patients with aneurysmal subarachnoid haemorrhage in the Magnesium in Aneurysmal Subarachnoid Haemorrhage II trial. We hypothesized that high glucose levels may have offset a potential beneficial effect to prevent delayed cerebral ischemia. We

  17. Simple and validated UHPLC-MS/MS analysis of nimodipine in plasma and cerebrospinal fluid of patients with subarachnoid haemorrhage.

    Science.gov (United States)

    Mohamed, Susan; Riva, Roberto; Contin, Manuela

    2016-08-15

    We present a simple, fast and validated method for the determination of nimodipine in plasma and cerebrospinal fluid (CSF) of patients with subarachnoid haemorrhage using ultra high performance liquid chromatography-tandem mass spectrometry (UHPLC-MS/MS). Plasma or CSF 250μL aliquots were pretreated with acetonitrile spiked with lacosamide as internal standard. The chromatographic separation was performed on a Fusion (3μm) 50×2.0mm I.D. column with gradient elution of 0.1% (v/v) formic acid in water and 0.1% (v/v) formic acid in acetonitrile at a flow rate of 0.35mL/min. The MS/MS ion transitions were 419.1→343 for nimodipine and 251.1→91 for the internal standard. The linearity was determined from 2.0 to 40.0ng/mL in plasma and 40.0-800.0pg/mL in CSF. The lower limit of quantitation (LLOQ) of nimodipine was 0.4ng/mL in plasma and 40pg/mL in CSF. The mean recovery for nimodipine was ≥75% in plasma and ≥90% in CSF at all three considered concentrations. Intra- and interassay precision and accuracy were ≤15% at all quality control concentrations in plasma and CSF. The method was applied to measure plasma and CSF concentrations of nimodipine in a series of patients with subarachnoid haemorrhage treated with intravenous nimodipine. The present procedure, omitting time-consuming liquid-liquid extraction and drying steps, is faster, simpler and cheaper than published LC-MS/MS analytical methods for nimodipine in plasma and the first validated one for nimodipine in CSF. Copyright © 2016 Elsevier B.V. All rights reserved.

  18. Likelihood of aneurysmal subarachnoid haemorrhage in patients with normal unenhanced CT, CSF xanthochromia on spectrophotometry and negative CT angiography.

    Science.gov (United States)

    Rana, A K; Turner, H E; Deans, K A

    2013-01-01

    Patients with suspected subarachnoid haemorrhage, a normal noncontrast computed tomography (CT) and cerebrospinal fluid (CSF) evidence of haemoglobin breakdown products often undergo CT angiography (CTA). If this is normal, then invasive catheter angiography may be offered. In current clinical practice, haemoglobin breakdown products are detected by spectrophotometry rather than visible xanthochromia, and CTA is performed on multidetector scanners. The aim of this study was to determine if such patients should still have a catheter angiography, given the associated risks. Patients positive for CSF spectrophotometry (n=26) were retrospectively identified from the clinical biochemistry information system and imaging data from the electronic radiology records were reviewed. Discharge letters were consulted to relate the biochemistry and radiology results to the final diagnosis. 15 patients with CT angiography were found. Nine patients had normal CT angiography. No causative aneurysms had been missed. One patient had small, coincidental aneurysms missed on initial reading of the CTA. The likelihood of a clinically significant aneurysm in a patient who is CT negative, lumbar puncture positive and CTA negative is low. Double reporting of negative CT angiograms may be advisable.

  19. Haemorrhagic Fevers, Viral

    Science.gov (United States)

    ... is usually applied to disease caused by Arenaviridae (Lassa fever, Junin and Machupo), Bunyaviridae (Crimean-Congo haemorrhagic ... fever Dengue and severe dengue Ebola virus disease Lassa fever Marburg haemorrhagic fever Rift Valley fever Multimedia, ...

  20. Long-term outcome of patients with hereditary hemorrhagic telangiectasia and severe hepatic involvement after orthotopic liver transplantation: a single-center study.

    Science.gov (United States)

    Dupuis-Girod, Sophie; Chesnais, Anne-Laure; Ginon, Isabelle; Dumortier, Jérôme; Saurin, Jean-Christophe; Finet, Gérard; Decullier, Evelyne; Marion, Denis; Plauchu, Henri; Boillot, Olivier

    2010-03-01

    Hepatic involvement occurs in up to 74% of patients with hereditary hemorrhagic telangiectasia (HHT) and is characterized by a spectrum of arteriovenous malformations. Three different types of intrahepatic shunting may be present: hepatic artery to hepatic veins, hepatic artery to portal vein, and portal vein to hepatic vein. Hepatic involvement in HHT may lead to biliary ischemia, portal hypertension, or high-output cardiac failure (HOCF). Orthotopic liver transplantation (OLT) has been proposed as the only definitive curative treatment. The aim of this study was to evaluate the long-term outcome of patients with hepatic involvement due to HHT after OLT with respect to mortality, cardiac and hepatic status, epistaxis, and quality of life. Patients with HHT and severe hepatic vascular malformations who underwent OLT in the Lyon Liver Transplant Unit (LLTU) from 1993 to 2007 were followed at the LLTU and the French Reference Center for HHT. Quality of life was evaluated with the Short Form 36 questionnaire. There were 13 patients who fulfilled the entry criteria of the study (12 women and 1 man). The mean age at the time of OLT was 51.8 years (range = 33-65 years). Indications for OLT were cardiac failure (n = 9), biliary necrosis (n = 2), both cardiac failure and biliary necrosis (n = 1), and hemobilia (n = 1). The mean duration of follow-up was 109 months (range = 1-200 months). Twelve patients (92.3%) are still alive. For the 9 patients with HOCF, the mean cardiac index decreased from 5.4 L/minute/m(2) before OLT to 3.0 L/minute/m(2) after OLT. No severe hepatic complications were observed after OLT. Nine of the surviving patients (75%) experienced dramatic improvements in epistaxis and quality of life, including an ability to undertake more physical activity. In conclusion, OLT is an important therapeutic option for patients with HHT who have severe hepatic involvement. In the reported cohort, the mortality after OLT for this indication was low.

  1. Palmar Telangiectasias: A Cutaneous Sign for Smoking.

    Science.gov (United States)

    Levi, Assi; Shechter, Ronen; Lapidoth, Moshe; Enk, Claes D

    2017-12-07

    Telangiectasias are permanent dilations of blood capillaries which appear in a variety of medical conditions. Cutaneous palmar telangiectasias have been postulated to be associated with smoking. To determine whether a significant correlation exists between palmar telangiectasias and smoking habits. A total of 124 volunteers participated in this observational study by allowing physical evaluation of their palms and by completing a questionnaire. Palmar telangiectasias were found to be associated with current or past smoking. Neither age nor gender was found to be a co-contributor. Palmar telangiectasias were found to constitute highly specific and sensitive markers for prolonged smoking. © 2017 S. Karger AG, Basel.

  2. Emergency laparotomy for peripartum haemorrhage in Bida North ...

    African Journals Online (AJOL)

    Subject: All patients with peripartum haemorrhage (ruptured gravid uterus and uncontrollable post partum haemorrhage) that needed emergency laparotomy between 1 June, 2000 31 May, 2004. Methods: A detailed history including biosocial and possible predisposing factors to peripartum haemorrhage at presentation ...

  3. Admission blood glucose levels and early change of neurological grade in poor-grade patients with aneurysmal subarachnoid haemorrhage.

    Science.gov (United States)

    Sato, M; Nakano, M; Asari, J; Watanabe, K

    2006-06-01

    The neurological grade of poor-grade subarachnoid haemorrhage (SAH) often changes soon after the patient is admitted to the hospital. It is important to closely monitor for such changes within a short period of time after admission; however, there are other problems that can occur during this time such as rebleeding. The aim of this study was to evaluate the relationship between admission blood glucose levels (ABGL) and early change of neurological grade after admission in patients with poor-grade SAH. Forty-six patients with poor-grade SAH (Hunt & Kosnik Grade IV or V), who were admitted within 3 hrs after SAH onset, and who did not have haematomas causing mass effect, or a history of diabetes mellitus, were included in the study. Patients were pretreated to control blood pressure and intracranial pressure, and they were monitored for early change of grade after admission. Blood glucose level was measured at the time of admission. Spontaneous grade improvement was observed in 9 of 17 Grade IV patients and 9 of 29 Grade V patients. The ABGL of the patients with grade improvement were significantly lower than the ABGL of the patients who did not improve or who got worse. ABGL were lower than 180 mg/dl in 15 of 18 patients who showed grade improvement. Our results showed that there was a relationship between ABGL and neurological grade changes which were observed after admission in patients with poor-grade SAH. These results suggest that ABGL might be a useful parameter for making therapeutic decisions.

  4. Manuseio anestésico de paciente portador de telangiectasia hemorrágica hereditária (síndrome de Rendu-Osler-Weber: relato de caso Manoseo anestésico de paciente portador de telangiectasia hemorrágica hereditaria (síndrome de Rendu - Osler - Weber: relato de caso Anesthetic management of a patient with hereditary hemorrhagic telangiectasia (Rendu-Osler-Weber syndrome: case report

    Directory of Open Access Journals (Sweden)

    Alexandre Palmeira Goulart

    2009-02-01

    characterized by mucocutaneous and visceral vascular dysplasia associated with frequent episodes of epistaxis and gastrointestinal bleeding. The objective of this report was to describe the anesthesia of a patient with this syndrome. CASE REPORT: A 25 years old male patient underwent surgical correction of an orbital fracture. He had the triad of recurrent epistaxis, family history, and telangiectasia, and had been diagnosed with HHT. Pulmonary, brain, or gastrointestinal tract vascular malformations were not detected in the preoperative investigation. The patient underwent total venous anesthesia one hour after the administration of an antifibrinolytic drug. Bleeding was considered normal for this type of surgery, and hemodynamic instability or the need of perioperative blood transfusion was not detected. The patient was extubated in the operating room; he was transferred to the room after 60 minutes and discharged from the hospital after 24 hours. CONCLUSIONS: Hereditary hemorrhagic telangiectasia is an autosomal dominant disorder that leads to mucocutaneous and visceral vascular dysplasia. Perioperative blood loss can be greater than expected in patients with this syndrome. Since bleeding does not result from a defect in the coagulation cascade but from the surgical exposure of malformed vascular structures, perioperative conduct includes the use of antifibrinolytics, adequate homeostasis, and induced hypotension in the absence of contraindications. Pre-anesthetic evaluation should include the search for brain, lung, and gastrointestinal vascular malformation.

  5. Spontaneous subarachnoid haemorrhage from rupture of an anterior communicating artery aneurysm in a patient with pituitary macroadenoma.

    Science.gov (United States)

    Almeida Silva, J M; Campos, R R; Souza, R R; Sette Dos Santos, M E; Aguiar, G B

    2014-01-01

    The presence of a cerebral aneurysm in patients with pituitary adenoma is a rare event. Diagnostic suspicion may stem from magnetic resonance imaging, which should lead to complementary investigation. As for treatment, even in conditions in which there has been no previous bleeding, the simultaneous approach should be considered, prioritising the aneurysm most of the time. The present report describes the case of a patient with a history of pituitary macroadenoma, who had undergone a partial transsphenoidal resection ten years earlier. Admission to our service occurred after a sudden headache followed by mental confusion. A cranial computed tomography showed subarachnoid haemorrhage and expansive suprasellar lesion. Cerebral angiography showed a saccular aneurysm of the anterior communicating complex. The patient underwent a surgical procedure for microsurgical clipping of the aneurysm and partial resection of the pituitary tumour. We have also included a brief review of the literature on this subject. Copyright © 2012 Sociedad Española de Neurocirugía. Published by Elsevier España. All rights reserved.

  6. Haemorrhage in intracranial tuber- culosis

    African Journals Online (AJOL)

    lous meningitis (TBM).1-5 TBM is thought to arise from cerebrospinal ... patients are on treatment for TB.6. The co-occurrence of .... erebral, intraventricular, and sub- arachnoid spaces. Our case highlights intracranial haemorrhage as a potential additional cause of death in TBM. Treatment would require search for an ...

  7. Bedside cerebral microdialysis monitoring of delayed cerebral hypoperfusion in comatose patients with poor grade aneurysmal subarachnoid haemorrhage.

    Science.gov (United States)

    Patet, Camille; Quintard, Hervé; Zerlauth, Jean-Baptiste; Maibach, Thomas; Carteron, Laurent; Suys, Tamarah; Bouzat, Pierre; Bervini, David; Levivier, Marc; Daniel, Roy T; Eckert, Philippe; Meuli, Reto; Oddo, Mauro

    2017-04-01

    Delayed cerebral ischaemia (DCI) is frequent after poor grade aneurysmal subarachnoid haemorrhage (SAH). Owing to the limited accuracy of clinical examination, DCI diagnosis is often based on multimodal monitoring. We examined the value of cerebral microdialysis (CMD) in this setting. 20 comatose SAH participants underwent CMD monitoring-for hourly sampling of cerebral extracellular lactate/pyruvate ratio (LPR) and glucose-and brain perfusion CT (PCT). Patients were categorised as DCI when PCT (8±3 days after SAH) showed cerebral hypoperfusion, defined as cerebral blood flow 5.7 s. Clinicians were blinded to CMD data; for the purpose of the study, only patients who developed cerebral hypoperfusion in anterior and/or middle cerebral arteries were analysed. DCI (n=9/20 patients) was associated with higher CMD LPR (51±36 vs 31±10 in patients without DCI, p=0.0007) and lower CMD glucose (0.64±0.34 vs 1.22±1.05, p=0.0005). In patients with DCI, CMD changes over the 18 hours preceding PCT diagnosis revealed a pattern of CMD LPR increase (coefficient +2.96 (95% CI 0.13 to 5.79), p=0.04) with simultaneous CMD glucose decrease (coefficient -0.06 (95% CI -0.08 to -0.01), p=0.03, mixed-effects multilevel regression model). No significant CMD changes were noted in patients without DCI. In comatose patients with SAH, delayed cerebral hypoperfusion correlates with a CMD pattern of lactate increase and simultaneous glucose decrease. CMD abnormalities became apparent in the hours preceding PCT, thereby suggesting that CMD monitoring may anticipate targeted therapeutic interventions. 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/.

  8. Prediction of two month modified Rankin Scale with an ordinal prediction model in patients with aneurysmal subarachnoid haemorrhage

    Directory of Open Access Journals (Sweden)

    Sneade Mary

    2010-09-01

    Full Text Available Abstract Background Aneurysmal subarachnoid haemorrhage (aSAH is a devastating event with a frequently disabling outcome. Our aim was to develop a prognostic model to predict an ordinal clinical outcome at two months in patients with aSAH. Methods We studied patients enrolled in the International Subarachnoid Aneurysm Trial (ISAT, a randomized multicentre trial to compare coiling and clipping in aSAH patients. Several models were explored to estimate a patient's outcome according to the modified Rankin Scale (mRS at two months after aSAH. Our final model was validated internally with bootstrapping techniques. Results The study population comprised of 2,128 patients of whom 159 patients died within 2 months (8%. Multivariable proportional odds analysis identified World Federation of Neurosurgical Societies (WFNS grade as the most important predictor, followed by age, sex, lumen size of the aneurysm, Fisher grade, vasospasm on angiography, and treatment modality. The model discriminated moderately between those with poor and good mRS scores (c statistic = 0.65, with minor optimism according to bootstrap re-sampling (optimism corrected c statistic = 0.64. Conclusion We presented a calibrated and internally validated ordinal prognostic model to predict two month mRS in aSAH patients who survived the early stage up till a treatment decision. Although generalizability of the model is limited due to the selected population in which it was developed, this model could eventually be used to support clinical decision making after external validation. Trial Registration International Standard Randomised Controlled Trial, Number ISRCTN49866681

  9. Development of involuntary movements after ventriculoperitoneal shunting for normal pressure hydrocephalus in a patient with chronic-phase thalamic haemorrhage.

    Science.gov (United States)

    Shindo, Keiichiro; Kondo, Takeo; Sugiyama, Ken; Nishijima, Kazunori; Furusawa, Yoshihito; Mori, Takayuki; Izumi, Shin-Ichi

    2007-10-01

    Delayed-onset involuntary movements have been described after thalamic stroke. We treated a patient with involuntary movements that increased after ventriculoperitoneal shunting (VPS) for normal pressure hydrocephalus (NPH) following thalamic haemorrage. One and one-half years after right thalamic and intraventricular haemorrhage, NPH suggested clinical evaluation and neuroimaging studies in a 56-year-old man. Hemidystonia and pseudochoreoathetosis were evident in the left arm, leg and trunk. Proprioceptive impairment and mild cerebellar dysfunction affected the left upper and lower extremity. Yet the patient could walk unassisted and carry out activities of daily living (ADL) rated as 90 points according to the Barthel Index (BI). Lumbar puncture lessened both gait disturbance and cognitive impairment. After VPS, cognition and urinary continence improved, but involuntary movements worsened, precluding unaided ambulation and decreasing the BI score to 65 points. Computed tomography after VPS showed resolution of NPH, while single-photon emission computed tomography showed increased cerebral blood flow after VPS. Increased cerebral blood flow after VPS is suspected to have promoted development of abnormal neuronal circuitry.

  10. Clinical spectrum of ataxia-telangiectasia in adulthood

    NARCIS (Netherlands)

    Verhagen, M. M. M.; Abdo, W. F.; Willemsen, M. A. A. P.; Hogervorst, F. B. L.; Smeets, D. F. C. M.; Hiel, J. A. P.; Brunt, E. R.; van Rijn, M. A.; Krakauer, D. Majoor; Oldenburg, R. A.; Broeks, A.; Last, J. I.; van't Veer, L. J.; Tijssen, M. A. J.; Dubois, A. M. I.; Kremer, H. P. H.; Weemaes, C. M. R.; Taylor, A. M. R.; van Deuren, M.

    2009-01-01

    Objective: To describe the phenotype of adult patients with variant and classic ataxia-telangiectasia (A-T), to raise the degree of clinical suspicion for the diagnosis variant A-T, and to assess a genotype-phenotype relationship for mutations in the ATM gene. Methods: Retrospective analysis of the

  11. Clinical spectrum of ataxia-telangiectasia in adulthood.

    NARCIS (Netherlands)

    Verhagen, M.M.; Abdo, W.; Willemsen, M.A.A.P.; Hogervorst, F.B.L.; Smeets, D.F.C.M.; Hiel, J.A.P.; Brunt, E.R.; Rijn, M.A. van; Majoor Krakauer, D.; Oldenburg, R.A.; Broeks, A.; Last, J.I.; Veer, L.J. van 't; Tijssen, M.A.; Dubois, A.M.; Kremer, H.P.H.; Weemaes, C.M.R.; Taylor, A.M.; Deuren, M. van

    2009-01-01

    OBJECTIVE: To describe the phenotype of adult patients with variant and classic ataxia-telangiectasia (A-T), to raise the degree of clinical suspicion for the diagnosis variant A-T, and to assess a genotype-phenotype relationship for mutations in the ATM gene. METHODS: Retrospective analysis of the

  12. Intracranial haemorrhage

    African Journals Online (AJOL)

    history in keeping with an ictus, appropriate findings of subarachnoid blood in imaging and then CTA or MRA. CTA is 95% accurate at detecting aneurysms.[10] If the index of suspicion is high and the CT is negative. Fig. 2. A hypertensive patient who presented with sudden-onset left-sided weakness and dysphasia.

  13. Preventive Antibiotics and Delayed Cerebral Ischaemia in Patients with Aneurysmal Subarachnoid Haemorrhage Admitted to the Intensive Care Unit.

    Science.gov (United States)

    Gathier, Celine S; Oostdijk, Evelien A; Rinkel, Gabriel J E; Dorhout Mees, Sanne M; Vergouwen, Mervyn D I; de Smet, Anne Marie G A; van de Beek, Diederik; Vandertop, W Peter; Verbaan, Dagmar; Algra, Ale; Bonten, Marc J M; van den Bergh, Walter M

    2016-02-01

    Delayed cerebral ischemia (DCI) is an important contributor to poor outcome after aneurysmal subarachnoid haemorrhage (aSAH). Development of DCI is multifactorial, and inflammation, with or without infection, is one of the factors independently associated with development of DCI and poor outcome. We thus postulated that preventive antibiotics might be associated with a reduced risk of DCI and subsequent poor outcome in aSAH patients. We performed a retrospective cohort-study in intensive care units (ICU) of three university hospitals in The Netherlands. We included consecutive aSAH patients with minimal ICU stay of 72 h who received either preventive antibiotics (SDD: selective digestive tract decontamination including systemic cefotaxime or SOD: selective oropharyngeal decontamination) or no preventive antibiotics. DCI was defined as a new hypodensity on CT with no other explanation than DCI. Hazard ratio's (HR) for DCI and risk ratio's (RR) for 28-day case-fatality and poor outcome at 3 months were calculated, with adjustment (aHR/aRR) for clinical condition on admission, recurrent bleeding, aneurysm treatment modality and treatment site. Of 459 included patients, 274 received preventive antibiotics (SOD or SDD) and 185 did not. With preventive antibiotics, the aHR for DCI was 1.0 (95% CI 0.6-1.8), the aRR for 28-day case-fatality was 1.1 (95% CI 0.7-1.9) and the aRR for poor functional outcome 1.2 (95% CI 1.0-1.4). Preventive antibiotics were not associated with reduced risk of DCI or poor outcome in aSAH patients in the ICU.

  14. Genetics Home Reference: hereditary hemorrhagic telangiectasia

    Science.gov (United States)

    ... Osler-Weber-Rendu syndrome Health Topic: Arteriovenous Malformations Genetic and Rare Diseases Information Center (1 link) Hereditary hemorrhagic telangiectasia Additional NIH Resources (1 link) National ...

  15. Predictive model for patients with poor-grade subarachnoid haemorrhage in 30-day observation: a 9-year cohort study.

    Science.gov (United States)

    Szklener, Sebastian; Melges, Anna; Korchut, Agnieszka; Zaluska, Wojciech; Trojanowski, Tomasz; Rejdak, Robert; Rejdak, Konrad

    2015-06-12

    The purpose of this study was to identify prognostic factors and build the predictive model based on poor-grade subarachnoid haemorrhage (SAH) population received only supportive symptomatic treatment. Prospective observational cohort study. Intensive care unit at the Clinical Department of Neurology. A total of 101 patients with spontaneous SAH disqualified from neurosurgical operative treatment due to poor clinical condition. Data were collected over a 9-year period. Unfavourable outcome was defined as a modified Rankin Score ≥ 5 at 30 days of observation. Multivariable logistic regression analysis indicated the World Federation of Neurosurgical Societies Scale score, increasing age, Fisher grade and admission leucocytosis as independent predictive factors. The proposed scale subdivides the study population into four prognostic groups with significantly different outcomes: grade I: probability of favourable outcome 89.9%; grade II: 47.5%; grade III: 4.2%; grade IV: 0%. The receiver operating characteristic (ROC) curve for the prediction of outcome performed by the new scale had an area under the curve (AUC)=0.910 (excellent accuracy). Unfavourable outcome in non-operated patients with poor-grade SAH is strongly predicted by traditional unmodifiable factors such as age, amount of bleeding in CT, level of consciousness as well as leucocytosis. A new predictive scale based on the above parameters seems to reliably predict the outcome and may contribute to more effective planning of therapeutic management in patients with poor-grade SAH. Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://group.bmj.com/group/rights-licensing/permissions.

  16. Outcome after emergency surgery without angiography in patients with intracerebral haemorrhage after aneurysm rupture

    DEFF Research Database (Denmark)

    Bergdal, Ove; Springborg, Jacob; Hauerberg, John

    2009-01-01

    and aneurysm occlusion without preoperative angiography. METHODS: We retrospectively identified 13 consecutive patients. We recorded clinical data and evaluated mortality and morbidity with the Glasgow Outcome Score (GOS) and Telephone Interview of Cognitive Status (TICS). FINDINGS: At follow up seven......BACKGROUND: Patients with large intracerebral haematomas (ICH) from aneurysm rupture often present in a poor clinical condition and have a poor prognosis. Time delay for preoperative angiography might in some cases be unappealing. We evaluated the outcome after immediate haematoma removal...... of thirteen patients had favourable outcome assessed by GOS. Three patients had severe disability and three patients died. None of the survived patients interviewed had impaired cognition. CONCLUSIONS: In patients presented in a critical state with aneurysmal ICH, emergency haematoma removal and aneurysm...

  17. ALCOHOL ABUSE ENHANCES SYSTEMIC INFLAMMATORY RESPONSE IN PATIENTS AFTER SPONTANEOUS INTRACEREBRAL HAEMORRHAGE

    Directory of Open Access Journals (Sweden)

    Maya Danovska

    2010-11-01

    Full Text Available OBJECTIVE: The role of inflammation in the complex pathophysiology of spontaneous intracerebral hemorrhage (sICH was studied by assessing the relationship between serum C-reactive protein (CRP levels and some clinical and neuroradiological parameters. We also aimed to identify the effects of modifiable vascular risk factors on serum CRP levels.PATIENTS: Forty six patients with sICH admitted to the Department of Neurology and Neurosurgery of the Pleven University Hospital, Bulgaria were examined. Serum CRP levels were measured within the first 48 hours of disease onset and analyzed in relation to neurological deficit severity and clinical outcome after sICH. The impact of some vascular risk factors on the inflammatory marker levels was also studied.RESULTS: We found enhanced CRP levels in patients with severe neurological deficit as assessed by the National Institutes of Health Stroke Scale (NIHSS score. Significantly higher CRP levels were measured in patients with progressive clinical deterioration and worse outcome. Serum CRP levels were also higher in patients with a history of alcohol abuse.CONCLUSIONS: Our results suggest that inflammation plays a crucial role in the development of brain injury after sICH. They show that CRP, a nonspecific inflammatory marker, can serve as an additional diagnostic and prognostic test indicator in the acute stage of sICH thus providing an excellent opportunity for therapeutic interventions while the patient is still in clinic. Patients with a history of systemic alcohol abuse demonstrate stronger inflammatory response indicative for worse prognosis.

  18. Viral Haemorrhagic Septicaemia Virus

    DEFF Research Database (Denmark)

    Olesen, Niels Jørgen; Skall, Helle Frank

    2013-01-01

    This chapter covers the genetics (genotypes and serotypes), clinical signs, host species, transmission, prevalence, diagnosis, control and prevention of viral haemorrhagic septicaemia virus.......This chapter covers the genetics (genotypes and serotypes), clinical signs, host species, transmission, prevalence, diagnosis, control and prevention of viral haemorrhagic septicaemia virus....

  19. Risk of haemorrhage from transurethral prostatectomy in acetylsalicylic acid and NSAID-treated patients

    DEFF Research Database (Denmark)

    Wierød, F S; Frandsen, N J; Jacobsen, J D

    1998-01-01

    the unselected clinical records of all patients undergoing TUR-P in the Department of Urology at Hvidovre Hospital (during 1992-1994) with special focus on the use of ASA and non-steroidal anti-inflammatory drugs (NSAIDs). In total, 457 records were examined: 99 patients on ASA/NSAID received 42 units of blood......, while 358 patients free from such medication received 68 units of blood, a significantly smaller amount (p = 0.0390). We conclude that ASA and NSAIDs increase the risk of bleeding during and after TUR-P, and we recommend the withdrawal of these drugs for one week before TUR-P....

  20. Stroke and recurrent haemorrhage associated with antithrombotic treatment after gastrointestinal bleeding in patients with atrial fibrillation

    DEFF Research Database (Denmark)

    Staerk, Laila; Lip, Gregory Y H; Olesen, Jonas B

    2015-01-01

    STUDY QUESTION: What are the risks of all cause mortality, thromboembolism, major bleeding, and recurrent gastrointestinal bleeding associated with restarting antithrombotic treatment after gastrointestinal bleeding in patients with atrial fibrillation? METHODS: This Danish cohort study (1996-201...

  1. Subarachnoid Haemorrhage and Sports

    Directory of Open Access Journals (Sweden)

    Liliana Sousa Nanji

    2015-11-01

    Full Text Available Background: Some cases of subarachnoid haemorrhage (SAH have been associated with vigorous physical activity, including sports. Our research aimed to describe the association between SAH and sports and to identify the types of sports that were more frequently found as precipitating factors in a tertiary single-centre SAH register. Methods: We retrieved information from a prospectively collected SAH registry and reviewed discharge notes of acute SAH patients admitted to the Stroke Unit of Hospital de Santa Maria, Lisbon, between 1995 and 2014. Results: Out of 738 patients included in the analysis, 424 (57.5% cases of SAH were preceded by physical activity. Nine cases (1.2% were associated with sports, namely running (2 cases, aerobics (2 cases, cycling, body balance, dance, surf and windsurf. Patients with SAH while practicing sports were younger than controls (average age 43.1 vs. 57.0 years; p = 0.007. In 1 patient, there was a report of trauma to the neck. Patients in the sports group only had Hunt and Hess scale grades 1 (11.1% or 2 (88.9% at admission, while patients in the control group had a wider distribution in severity. Conclusions: Our findings indicate that SAH precipitated by sports is not very frequent and is uncommonly related to trauma. Patients who suffered SAH associated with sports were younger and apparently had a milder clinical presentation.

  2. Subarachnoid Haemorrhage and Sports.

    Science.gov (United States)

    Sousa Nanji, Liliana; Melo, Teresa P; Canhão, Patrícia; Fonseca, Ana Catarina; Ferro, José Manuel

    2015-01-01

    Some cases of subarachnoid haemorrhage (SAH) have been associated with vigorous physical activity, including sports. Our research aimed to describe the association between SAH and sports and to identify the types of sports that were more frequently found as precipitating factors in a tertiary single-centre SAH register. We retrieved information from a prospectively collected SAH registry and reviewed discharge notes of acute SAH patients admitted to the Stroke Unit of Hospital de Santa Maria, Lisbon, between 1995 and 2014. Out of 738 patients included in the analysis, 424 (57.5%) cases of SAH were preceded by physical activity. Nine cases (1.2%) were associated with sports, namely running (2 cases), aerobics (2 cases), cycling, body balance, dance, surf and windsurf. Patients with SAH while practicing sports were younger than controls (average age 43.1 vs. 57.0 years; p = 0.007). In 1 patient, there was a report of trauma to the neck. Patients in the sports group only had Hunt and Hess scale grades 1 (11.1%) or 2 (88.9%) at admission, while patients in the control group had a wider distribution in severity. Our findings indicate that SAH precipitated by sports is not very frequent and is uncommonly related to trauma. Patients who suffered SAH associated with sports were younger and apparently had a milder clinical presentation.

  3. Erythropoietin in the cerebrospinal fluid of patients with aneurysmal subarachnoid haemorrhage originates from the brain

    DEFF Research Database (Denmark)

    Springborg, Jacob Bertram; Sonne, Bjarne; Frederiksen, Hans Jørgen

    2003-01-01

    . We collected a total of 83 corresponding serum and CSF samples from 18 patients with aneurysmal SAH and compared the concentrations of EPO with those of blood-derived markers of blood-brain barrier function (albumin, transferrin, alpha(2)-macroglobulin) and with those of proteins with well-known CNS...... synthesis (prealbumin, apolipoprotein E). The EPO concentration in CSF was 0.93 (0.82) mU/ml (median and inter-quartile range). Nine patients presented CSF-EPO values above 1 mU/ml. CSF levels did not correlate with serum concentrations and were independent of blood-brain barrier integrity suggesting...

  4. Fresh frozen plasma versus prothrombin complex concentrate in patients with intracranial haemorrhage related to vitamin K antagonists (INCH)

    DEFF Research Database (Denmark)

    Steiner, Thorsten; Poli, Sven; Griebe, Martin

    2016-01-01

    BACKGROUND: Haematoma expansion is a major cause of mortality in intracranial haemorrhage related to vitamin K antagonists (VKA-ICH). Normalisation of the international normalised ratio (INR) is recommended, but optimum haemostatic management is controversial. We assessed the safety and efficacy ...

  5. [Re-bleeding predictors in patients with aneurysmal subarachnoid haemorrhage and delayed neurosurgical treatment].

    Science.gov (United States)

    Rivero Rodríguez, Dannys; Scherle Matamoros, Claudio; Fernández Cúe, Leda; Miranda Hernández, José Luis; Pernas Sánchez, Yanelis; Pérez Nellar, Jesús

    2016-01-01

    To evaluate the re-bleeding predictors in patients with delayed treatment of aneurysmal subarachnoid hemorrhage. A prospective cohort study enrolled 261 patients with aneurysmal subarachnoid hemorrhage, attending in Hermanos Ameijeiras Hospital from October 2005, and June 2014. An increased re-bleeding risk in the multivariate analysis was associated with grade III (OR 2.01; 95% CI; 1.06-3.84) and grade IV (OR 3.84; 95% CI; 2.06-7.31) on World Federation Neurological Surgeon (WFNS) scale; grade III (OR 2.04; 95% CI; 1.01-4.13) and grade IV (OR 2.12, 95% CI; 1.05-4.28) on the Fischer scale, aneurism location in posterior circulation (OR 2.45, 95% CI; 1.33-4.44), and anterior communicant artery (OR 1.57, 95% CI;1.00-2.46). Hypertension history was present in 60.9% (159 patients) and was also associated with risk of re-bleeding (OR 2.70, 95% CI; 1.00-7.30). Blood pressure, haematocrit, glycemic, aneurysm size, multiple aneurysms, and location in the middle cerebral artery, do not show any relationship. Hypertension history, poor grade (III and IV) on WFNS and Fisher scale and aneurysm location were independent risks factors of re-bleeding in patients with delayed aneurysmal treatment. Copyright © 2014 Sociedad Española de Neurocirugía. Published by Elsevier España. All rights reserved.

  6. Bevacizumab in vitreous haemorrhage secondary to radiation retinopathy

    Science.gov (United States)

    Montero, Javier Antonio; Yanez-Castro, Giovanni; Sanchis-Merino, Maria Eugenia; Ruiz-Moreno, Jose Maria

    2014-01-01

    Radiation retinopathy is a delayed-onset side effect of radiation exposure caused by retinal ischaemia that may induce proliferative retinopathy with neovascularisation, vitreous haemorrhage and macular oedema. An otherwise healthy, 51-year-old male patient who had been diagnosed with olfactory neuroblastoma and undergone complete surgical removal of the lesion followed by cranial irradiation developed bilateral cataracts and radiation retinopathy. The patient was treated by panretinal photocoagulation (PRP), followed by three-port pars-plana vitrectomy. Recurrent episodes of vitreous haemorrhages occurred following surgery and the patient was successfully treated by one intravitreal injection of bevacizumab with resolution of vitreous blood. Vitreous haemorrhage recurred 6 months later and a scheduled treatment with intravitreal bevacizumab every 4 months was established, preventing further haemorrhagic episodes. Six months after the last injection, a new episode of vitreous haemorrhage occurred. Scheduled intravitreal bevacizumab injections may help prevent recurrent vitreous haemorrhages in vitrectomised patients with radiation retinopathy. PMID:24510700

  7. Disorders of Upper Limb Movements in Ataxia-Telangiectasia.

    Directory of Open Access Journals (Sweden)

    Aasef G Shaikh

    Full Text Available Ataxia-telangiectasia is known for cerebellar degeneration, but clinical descriptions of abnormal tone, posture, and movements suggest involvement of the network between cerebellum and basal ganglia. We quantitatively assessed the nature of upper-limb movement disorders in ataxia-telangiectasia. We used a three-axis accelerometer to assess the natural history and severity of abnormal upper-limb movements in 80 ataxia-telangiectasia and 19 healthy subjects. Recordings were made during goal-directed movements of upper limb (kinetic task, while arms were outstretched (postural task, and at rest. Almost all ataxia-telangiectasia subjects (79/80 had abnormal involuntary movements, such as rhythmic oscillations (tremor, slow drifts (dystonia or athetosis, and isolated rapid movements (dystonic jerks or myoclonus. All patients with involuntary movements had both kinetic and postural tremor, while 48 (61% also had resting tremor. The tremor was present in transient episodes lasting several seconds during two-minute recording sessions of all three conditions. Percent time during which episodic tremor was present was greater for postural and kinetic tasks compared to rest. Resting tremor had higher frequency but smaller amplitude than postural and kinetic tremor. Rapid non-rhythmic movements were minimal during rest, but were triggered during sustained arm postures and goal directed arm movements suggesting they are best considered a form of dystonic jerks or action myoclonus. Advancing age did not correlate with the severity of involuntary limb movements. Abnormal upper-limb movements in ataxia-telangiectasia feature classic cerebellar impairment, but also suggest involvement of the network between the cerebellum and basal ganglia.

  8. Stroke and recurrent haemorrhage associated with antithrombotic treatment after gastrointestinal bleeding in patients with atrial fibrillation

    DEFF Research Database (Denmark)

    Staerk, Laila; Lip, Gregory Y H; Olesen, Jonas B

    2015-01-01

    STUDY QUESTION: What are the risks of all cause mortality, thromboembolism, major bleeding, and recurrent gastrointestinal bleeding associated with restarting antithrombotic treatment after gastrointestinal bleeding in patients with atrial fibrillation? METHODS: This Danish cohort study (1996......-2012) included all patients with atrial fibrillation discharged from hospital after gastrointestinal bleeding while receiving antithrombotic treatment. Restarted treatment regimens were single or combined antithrombotic drugs with oral anticoagulation and antiplatelets. Follow-up started 90 days after discharge...... to avoid confounding from use of previously prescribed drugs on discharge. Risks of all cause mortality, thromboembolism, major bleeding, and recurrent gastrointestinal bleeding were estimated with competing risks models and time dependent multiple Cox regression models. STUDY ANSWER AND LIMITATIONS: 4602...

  9. Initial clinical experience with dual-layer detector spectral CT in patients with acute intracerebral haemorrhage: A single-centre pilot study.

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    Soo Buem Cho

    Full Text Available The purpose of this study was to investigate the clinical feasibility of spectral analyses using dual-layer detector spectral computed tomography (CT in acute intracerebral haemorrhage (ICH.We retrospectively reviewed patients with acute ICH who underwent CT angiography on a dual-layer detector spectral CT scanner. A spectral data analysis was performed to detect contrast enhancement in or adjacent to acute ICH by using spectral image reconstructions including monoenergetic (MonoE, virtual noncontrast (VNC, and iodine overlay fusion images. We also acquired a spectral plot to assess material differentiation within lesions.Among the 30 patients, the most common cause of acute ICH was chronic hypertension (18/30, 60% followed by trauma (5/30, 16.7%, brain tumour (3/30, 10%, Moyamoya disease (2/30, 6.7%, and haemorrhagic diathesis from anticoagulation therapy (2/30, 6.7%. Of 30 patients, 13 showed suboptimal iodine suppression in the subcalvarial spaces on VNC images compared with true noncontrast images. The CT angiographic spot sign within the acute ICH was detected in four patients (4/30, 13.3%. All three tumours were metastatic and included lung cancer (n = 2 and hepatocellular carcinoma (n = 1 which showed conspicuous delineation of an enhancing tumour portion in the spectral analysis. Spectral analyses allowed the discrimination of acute haemorrhage and iodine with enhanced lesion visualization on the MonoE images obtained at lower keVs (less than 70 keV and spectral plot.Even though the image quality of VNC is perceived to be inferior, it is feasible to evaluate acute ICH in clinical settings using dual-layer detector spectral CT. The MonoE images taken at lower keVs were useful for depicting contrast enhancing lesion, and spectral plot might be helpful for material differentiation in patients with acute ICH.

  10. Protocol for a systematic review of the clinical effectiveness of pre-hospital blood components compared to other resuscitative fluids in patients with major traumatic haemorrhage.

    Science.gov (United States)

    Dretzke, Janine; Smith, Iain M; James, Robert H; Midwinter, Mark J

    2014-10-24

    There is growing interest in the use of blood components for pre-hospital resuscitation of patients with major traumatic haemorrhage. It has been speculated that early resuscitation with blood components may have benefits in terms of treating trauma-induced coagulopathy, which in turn may influence survival. The proposed systematic review will evaluate the evidence on the clinical effectiveness of pre-hospital blood components (red blood cells and/or plasma or whole blood), in both civilian and military settings, compared with other resuscitation strategies in patients with major traumatic haemorrhage. Standard systematic review methods aimed at minimising bias will be employed for study identification, selection and data extraction. General medical and specialist databases will be searched; the search strategy will combine terms for the population, intervention and setting. Studies will be selected for review if the population includes adult patients with major traumatic haemorrhage who receive blood components in a pre-hospital setting (civilian or military). Systematic reviews, randomised and non-randomised controlled trials and controlled observational studies will be included. Uncontrolled studies will be considered depending on the volume of controlled evidence. Quality assessment will be tailored to different study designs. Both patient related and surrogate outcomes will be considered. Synthesis is likely to be primarily narrative, but meta-analyses and subgroup analyses will be undertaken where clinical and methodological homogeneity exists. Given the increasing use by emergency services of blood components for pre-hospital resuscitation, this is a timely systematic review, which will attempt to clarify the evidence base for this practice. As far as the authors are aware, the proposed systematic review will be the first to address this topic. PROSPERO CRD42014013794.

  11. Intracranial haemorrhage in the course of ischaemic stroke in patients receiving IV thrombolytic therapy – a study of 141 patients from Gliwice and its vicinity. An attempt to determine risk factors based on authors’ own experience

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    Witold Opiełka

    2015-12-01

    Full Text Available Introduction: Systemic thrombolytic therapy using recombinant tissue plasminogen activator is a recognised method for the causative treatment of acute ischaemic stroke. The aim of this study was to determine the safety of thrombolytic treatment, the incidence of the most dangerous complication – intracranial haemorrhage and to assess its influence on the final therapeutic outcome. An additional aim was to identify risk factors. Material and methods: A total of 141 patients treated from January 2013 to June 2015 at the Stroke Unit were included in the analysis. The patients were assessed in terms of neurological deficit according to the National Institutes of Health Stroke Scale, their functional status using the modified Rankin Scale and Brunnstrom motor ability scale. A multivariate analysis of different risk factors for intracranial haemorrhage was performed. Results: Symptomatic intracranial haemorrhage occurred in 3.5% of cases, asymptomatic haemorrhage was reported in 7.1% of cases. A statistically significant difference was found in mortality rate (p = 0.0043 between the thrombolytic subgroup (5% and the group not receiving causative therapy (13%. The neurological status in the subgroup with symptomatic intracranial haemorrhage deteriorated in the 2nd hour of treatment, then it remained stable and reached a high value of the National Institutes of Health Stroke Scale median – 23; it differed significantly compared to other patients (p = 0.009 in the 2nd hour; p = 0.001 on day 7. The functional status of patients with symptomatic intracranial haemorrhage did not improve; it was assessed at baseline and at the end of treatment and remained at the same level (modified Rankin Scale – median = 5 and 5. There was a significant increase in mobility, presenting as a 2 point drop in the median, in other patients. Conclusions: Thrombolytic treatment is a relatively safe procedure. Mortality during hospital treatment in the

  12. [Thrombotic and haemorrhagic complications in patients with cerebral aneurysms treated by endovascular approach and their association with the use of antiplatelet agents: Descriptive evaluation].

    Science.gov (United States)

    Puentes, Juan Carlos; Quintero, Silvia Tatiana; Uriza, Luís Felipe; Rueda, Maria Alejandra; Piedrahita, Adriana; Contreras, Victor

    2017-11-27

    The protocol for optimal antiplatelet therapy to prevent thrombotic complications following brain aneurysm embolisation is not clear. Our objective is to describe the characteristics of patients presenting with thrombotic or haemorrhagic complications secondary to endovascular treatment. A cross sectional descriptive study was performed, which included all patients that required endovascular treatment for brain aneurysm at San Ignacio University Hospital from November 2007 to January 2016. Thrombotic and haemorrhagic complications over six months of follow-up were assessed, considering the premedication regimen with antiplatelet agents, location, size of the aneurysm and embolisation technique performed. 122 patients were evaluated, on whom 130 procedures were performed for endovascular treatment of brain aneurysms. Thrombotic complications were more frequent in patients who did not receive premedication (25%) compared to those who did receive an antiplatelet treatment regimen (standard dose 3.87% or loading dose 8.70%), and this difference was statistically significant (P=.043). Thromboembolic events are the most common complication of brain aneurysm embolisation. Both our study and the literature suggest that the use of dual antiplatelet therapy with aspirin and clopidogrel lowers the rate of symptomatic thromboembolic complications, regardless of the administration protocol. Copyright © 2017. Publicado por Elsevier España, S.L.U.

  13. Hereditary Hemorrhagic Telangiectasia: A Primer for Critical Care Nurses.

    Science.gov (United States)

    Sacco, Kathleen M; Barkley, Thomas W

    2016-06-01

    Hereditary hemorrhagic telangiectasia is a rare, autosomal dominant genetic disease that causes abnormal growth of blood vessels and, subsequently, life-threatening arteriovenous malformations in vital organs. Epistaxis may be one of the initial clues that a patient has more serious, generalized arteriovenous malformations. Recommended treatment involves careful evaluation to determine the severity and risk of spontaneous rupture of the malformations and the management of various signs and symptoms. The disease remains undiagnosed in many patients, and health care providers may miss the diagnosis until catastrophic events happen in multiple family members. Prompt recognition of hereditary hemorrhagic telangiectasia and early intervention can halt the dangerous course of the disease. Critical care nurses can assist with early diagnosis within families with this genetic disease, thus preventing early death and disability. ©2016 American Association of Critical-Care Nurses.

  14. Churg-Strauss Syndrome as an Unusual Aetiology of Stroke with Haemorrhagic Transformation in a Patient with No Cardiovascular Risk Factors

    Directory of Open Access Journals (Sweden)

    Tiina Sairanen

    2011-01-01

    Full Text Available Background: We present here a case of haemorrhagic brain infarction in a middle-aged and physically active male, who had never smoked. This case report aims to remind the internist and neurologist to bear in mind unusual aetiologies of brain infarcts in patients without classical cardiovascular risk factors. Case Description: A 49-year-old male with pulmonary asthma and a prior history of nasal polyps had a wake-up stroke with left-sided symptoms and speech disturbance. A head MRI and MR angiography revealed a recent haemorrhagic infarct in the right putamen and corona radiata. The left hemiparesis progressed to sensory-motor hemiplegia on the 4th day. In the head CT, it was shown that the haemorrhagic infarct had progressed to a large haematoma. A pansinusitis was also diagnosed. The aetiological investigations revealed a minor atrial septal defect (ASD with shunting and a heterozygotic clotting factor V R506Q mutation. A remarkable blood eosinophilia of 9.80 E9/l (42% together with fever, sinusitis, wide-spread bilateral nodular pulmonary infiltrates that did not respond to wide-spectrum antimicrobial treatment, positive anti-neutrophilic cytoplasmic antibodies, a high myeloperoxidase antibody level and slightly positive anti-proteinase 3 antibodies suggested the diagnosis of Churg-Strauss syndrome. These inflammatory symptoms and findings promptly responded to treatment with corticosteroids and cyclophosphamide. Conclusions: Even after the concomitant findings of the low risk factors, i.e. small ASD and heterozygotic clotting factor mutation, continued search for the final aetiology of stroke revealed Churg-Strauss syndrome, which was the key to the treatment.

  15. Ebolavirus and Haemorrhagic Syndrome

    Directory of Open Access Journals (Sweden)

    Gerald A. Matua

    2015-05-01

    Full Text Available The Ebola virus is a highly virulent, single-stranded ribonucleic acid virus which affects both humans and apes and has fast become one of the world’s most feared pathogens. The virus induces acute fever and death, with haemorrhagic syndrome occurring in up to 90% of patients. The known species within the genus Ebolavirus are Bundibugyo, Sudan, Zaïre, Reston and Taï Forest. Although endemic in Africa, Ebola has caused worldwide anxiety due to media hype and concerns about its international spread, including through bioterrorism. The high fatality rate is attributed to unavailability of a standard treatment regimen or vaccine. The disease is frightening since it is characterised by rapid immune suppression and systemic inflammatory response, causing multi-organ and system failure, shock and often death. Currently, disease management is largely supportive, with containment efforts geared towards mitigating the spread of the virus. This review describes the classification, morphology, infective process, natural ecology, transmission, epidemic patterns, diagnosis, clinical features and immunology of Ebola, including management and epidemic containment strategies.

  16. Haemorrhage in pregnancy: information given to women in Chiradzulu (Malawi

    Directory of Open Access Journals (Sweden)

    H Kapyepye

    2006-09-01

    Full Text Available Advising women on , haemorrhage in pregnancy could, be viewed, as an integral aspect of maternal health care in M alawi. The WHO (1999 confirmed, that haemorrhage in pregnancy was not only a direct reason for maternal mortality but also a major cause of maternal death. The question on the nature of information that midwives and traditional birth attendants (referred to as TBA’s in the Chiradzulu district in Malawi gave with regard to haemorrhage in pregnancy, therefore arose. Research available focused on the women’s knowledge about the complications of pregnancy but not on the nature of information women received from midwives and TBA’s. This study explored and described the nature of information that was given to rural women in the Chiradzulu district by the midwives and TBA’s regarding haemorrhage in pregnancy. The findings revealed that although both the midwives and TBA’s included important information about haemorrhage in pregnancy, there were deficiencies in some critical areas. Examples of these deficiencies were the definition of haemorrhage in pregnancy; the predisposing factors for antepartum and postpartum haemorrhage and deficiencies in the nature of information on the management and referral of haemorrhaging patients. The findings provided insights into the nature of the information that was provided to the women regarding haemorrhage in pregnancy in the Chiradzulu district in Malawi. Thereafter guidelines were developed for the provision of this information. Finally a follow-up study was recommended after implementation of these guidelines in the district to evaluate the change in the nature of the information communicated to patients regarding haemorrhage by midwives and TBA’s. In this study, haemorrhage during pregnancy referred to the perinatal phase, including antepartum, intrapartum and postpartum haemorrhage.

  17. Cranial MRI in ataxia-telangiectasia

    Energy Technology Data Exchange (ETDEWEB)

    Sardanelli, F. [Dept. of Radiology, Univ. of Genoa (Italy); Parodi, R.C. [Dept. of Radiology, Univ. of Genoa (Italy); Ottonello, C. [Dept. of Radiology, Univ. of Genoa (Italy); Renzetti, P. [Dept. of Radiology, Univ. of Genoa (Italy); Saitta, S. [Dept. of Radiology, Univ. of Genoa (Italy); Lignana, E. [G. Gaslini Inst., Genoa (Italy); Mancardi, G.L. [Dept. of Neurology, Univ. of Genoa (Italy)

    1995-01-01

    We examined five males with laboratory-confirmed ataxia-telangiectasia (AT), aged 9-28 years, several times by MRI (9 examinations: 5 at 0.15 T, 3 at 0.5 T, 1 at 1.5 T). Intermediate, T1-, T2- and T2{sup *}-weighted spin-echo and gradient-echo sequences were performed. All patients showed vermian atrophy, enlarged fourth ventricle and cisterna magna; four showed cerebellar hemisphere atrophy; two enlarged infracerebellar subarachnoid spaces and four patients had sinusitis. No focal areas of abnormal signal were seen in the brain, diffuse high signal was found in the central cerebral white matter of the oldest patient. AT is an important human model of inherited cancer susceptibility and multisystem ageing; as in xeroderma pigmentosum and other ``breakage syndromes``, ionising radiation should be avoided. When imaging is necessary, MRI should be preferred to CT in patients known or suspected to have AT and those with undefined paediatric ataxias of nontraumatic origin. If atrophy of only the cerebellum, especially the vermis, is noted, laboratory research should be performed to confirm the diagnosis of AT. (orig.)

  18. [Ataxia telangiectasia: what impact in clinical oncology?].

    Science.gov (United States)

    Stoppa-Lyonnet, D; Aurias, A

    1992-01-01

    Ataxia telangiectasia (AT) is a hereditary disease transmitted in a recessive mode and characterized by chromosomal instability and radiosensitivity. AT patients have a 100-fold higher risk of cancer than the general population. Although AT is a rare disease of which the frequency has been estimated to be 1/40,000, the frequency of the heterozygosity status, when assessed with the Hardy-Weinberg equation is high (about 1.4%). Parents of AT children, thus obligate AT carriers, show chromosomal instability and radiosensitivity, but at a lower level than AT patients. Assuming that these AT characteristics deal with the cancer predisposition, it can be hypothesized that AT heterozygote individuals have a higher cancer susceptibility than the general population. To test this hypothesis, M Swift's group compared cancer incidence rates from adult blood relatives of AT patients with controls. The risk of cancer in AT heterozygotes could be increased by 3.5 and, for carrier women, the breast cancer risk could be increased by 5.1. Actually, the diagnosis of the AT heterozygote status is not possible. However, the near cloning of the gene (or genes) for the disease will permit to identify the AT carriers in a population of patients suffering from cancer and to assess precisely the impact of AT heterozygosity in the genetic predisposition to cancer.

  19. Thalamic haemorrhage vs internal capsule-basal ganglia haemorrhage: clinical profile and predictors of in-hospital mortality

    Directory of Open Access Journals (Sweden)

    García-Eroles Luis

    2007-10-01

    Full Text Available Abstract Background There is a paucity of clinical studies focused specifically on intracerebral haemorrhages of subcortical topography, a subject matter of interest to clinicians involved in stroke management. This single centre, retrospective study was conducted with the following objectives: a to describe the aetiological, clinical and prognostic characteristics of patients with thalamic haemorrhage as compared with that of patients with internal capsule-basal ganglia haemorrhage, and b to identify predictors of in-hospital mortality in patients with thalamic haemorrhage. Methods Forty-seven patients with thalamic haemorrhage were included in the "Sagrat Cor Hospital of Barcelona Stroke Registry" during a period of 17 years. Data from stroke patients are entered in the stroke registry following a standardized protocol with 161 items regarding demographics, risk factors, clinical features, laboratory and neuroimaging data, complications and outcome. The region of the intracranial haemorrhage was identified on computerized tomographic (CT scans and/or magnetic resonance imaging (MRI of the brain. Results Thalamic haemorrhage accounted for 1.4% of all cases of stroke (n = 3420 and 13% of intracerebral haemorrhage (n = 364. Hypertension (53.2%, vascular malformations (6.4%, haematological conditions (4.3% and anticoagulation (2.1% were the main causes of thalamic haemorrhage. In-hospital mortality was 19% (n = 9. Sensory deficit, speech disturbances and lacunar syndrome were significantly associated with thalamic haemorrhage, whereas altered consciousness (odds ratio [OR] = 39.56, intraventricular involvement (OR = 24.74 and age (OR = 1.23, were independent predictors of in-hospital mortality. Conclusion One in 8 patients with acute intracerebral haemorrhage had a thalamic hematoma. Altered consciousness, intraventricular extension of the hematoma and advanced age were determinants of a poor early outcome.

  20. Desmopressin Acetate in Intracranial Haemorrhage

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    Thomas Kapapa

    2014-01-01

    Full Text Available Introduction. The secondary increase in the size of intracranial haematomas as a result of spontaneous haemorrhage or trauma is of particular relevance in the event of prior intake of platelet aggregation inhibitors. We describe the effect of desmopressin acetate as a means of temporarily stabilising the platelet function. Patients and Methods. The platelet function was analysed in 10 patients who had received single (N=4 or multiple (N=6 doses of acetylsalicylic acid and 3 patients (control group who had not taken acetylsalicylic acid. All subjects had suffered intracranial haemorrhage. Analysis was performed before, half an hour and three hours after administration of desmopressin acetate. Statistical analysis was performed by applying a level of significance of P≤0.05. Results. (1 Platelet function returned to normal 30 minutes after administration of desmopressin acetate. (2 The platelet function worsened again after three hours. (3 There were no complications related to electrolytes or fluid balance. Conclusion. Desmopressin acetate can stabilise the platelet function in neurosurgical patients who have received acetylsalicylic acid prior to surgery without causing transfusion-related side effects or a loss of time. The effect is, however, limited and influenced by the frequency of drug intake. Further controls are needed in neurosurgical patients.

  1. [Symptoms, Diagnostics, Treatment and Classification of 22 Patients with Postpancreatectomy Haemorrhage (PPH) in a Series of 400 Consecutive Pancreatic Head Resections and Pancreatectomies].

    Science.gov (United States)

    Riediger, H; Krüger, K; Makowiec, F; Adam, U; Krueger, C M

    2016-12-01

    Introduction: Postpancreatectomy haemorrhage (PPH) is a dangerous complication after pancreatic resection. Patients and Methods: From 2006 to 2015, 400 consecutive pancreatic head resections and pancreatectomies were performed and prospectively documented. This study analysed incidence, treatment and outcome of patients with PPH. Results: Incidence of PPH was 5.5 % (n = 22). PPH occurred in a median of eight days after pancreatic surgery with an equal frequency of symptoms being caused by gastrointestinal bleeding (n = 11) and abdominal bleeding (n = 11). Postoperative pancreatic fistulas (POPF) were significantly more frequent in case of PPH (45 % POPF in case of PPH vs. 20 % POPF in case of no PPH, p Diagnostic investigation and treatment of PPH requires an experienced surgical centre with a close cooperation with endoscopy and (interventional) radiology. Georg Thieme Verlag KG Stuttgart · New York.

  2. Olivary degeneration after cerebellar or brain stem haemorrhage: MRI

    Energy Technology Data Exchange (ETDEWEB)

    Uchino, A. (Dept. of Radiology, Kyushu Univ. Hospital, Fukuoka (Japan) Dept. of Radiology, Kyushu Rosai Hospital, Kitakyushu (Japan)); Hasuo, K. (Dept. of Radiology, Kyushu Univ. Hospital, Fukuoka (Japan)); Uchida, K. (Dept. of Radiology, Kyushu Rosai Hospital, Kitakyushu (Japan)); Matsumoto, S. (Dept. of Radiology, Kyushu Univ. Hospital, Fukuoka (Japan)); Tsukamoto, Y. (Dept. of Radiology, Kyushu Rosai Hospital, Kitakyushu (Japan)); Ohno, M. (Dept. of Radiology, Kyushu Rosai Hospital, Kitakyushu (Japan)); Masuda, K. (Dept. of Radiology, Kyushu Univ. Hospital, Fukuoka (Japan))

    1993-05-01

    Magnetic resonance (MR) images of seven patients with olivary degeneration caused by cerebellar or brain stem haemorrhages were reviewed. In four patients with cerebellar haemorrhage, old haematomas were identified as being located in the dentate nucleus; the contralateral inferior olivary nuclei were hyperintense on proton-density- and T2-weighted images. In two patients with pontine haemorrhages, the old haematomas were in the tegmentum and the ipsilateral inferior olivary nuclei, which were hyperintense. In one case of midbrain haemorrhage, the inferior olivary nuclei were hyperintense bilaterally. The briefest interval from the ictus to MRI was 2 months. Hypertrophic olivary nuclei were observed only at least 4 months after the ictus. Olivary degeneration after cerebellar or brain stem haemorrhage should not be confused with ischaemic, neoplastic, or other primary pathological conditions of the medulla. (orig.)

  3. Magnesium and headache after aneurysmal subarachnoid haemorrhage

    NARCIS (Netherlands)

    Dorhout Mees, S. M.; Bertens, D.; van der Worp, H. B.; Rinkel, G. J. E.; van den Bergh, W. M.

    2010-01-01

    BACKGROUND: In patients with aneurysmal subarachnoid haemorrhage (SAH), headache typically is severe and often requires treatment with opioids. Magnesium has analgesic effects in several conditions, but whether it reduces headache after SAH is unknown. METHODS: In a cohort of 108 SAH patients

  4. 20-year follow-up study of Danish HHT patients-survival and causes of death

    DEFF Research Database (Denmark)

    Kjeldsen, Anette; Aagaard, Katrine Saldern; Tørring, Pernille Mathiesen

    2016-01-01

    BACKGROUND: Hereditary Haemorrhagic Telangiectasia (HHT) is a dominantly inheritable disorder, with a wide variety of clinical manifestations due to presence of multiple arteriovenous manifestations. The most common mutations are found in HHT1 (ENG) and HHT2 (ACVRL1) patients, causing alterations...... to investigate whether cancer morbidity among HHT patients differs from that among controls. RESULTS: We included all HHT patients in the County of Fyn, Denmark, prevalent as of January 1st 1995 in total 73 HHT patients. In addition three age- and sex- matched controls per HHT patient were evaluated, in total...

  5. Novel compound heterozygous mutations in a child with Ataxia-Telangiectasia showing unrelated cerebellar disorders.

    Science.gov (United States)

    Piane, Maria; Molinaro, Anna; Soresina, Annarosa; Costa, Silvia; Maffeis, Marianna; Germani, Aldo; Pinelli, Lorenzo; Meschini, Roberta; Plebani, Alessandro; Chessa, Luciana; Micheli, Roberto

    2016-12-15

    We report the case of a 6-year-old female patient with Ataxia Telangiectasia, an extremely rare condition, who developed in addition a left cerebellar astrocytoma and a right cerebellar infarction, considered as two independent events. Children with AT have an increased risk of developing cancer, but only few cases of glioma are reported and, at our knowledge, no other case of unrelated cerebellar glioma and cerebellar infarction in with the same AT patient have been described. The molecular analysis of ATM (Ataxia Telangiectasia Mutated) gene showed that the patient is compound heterozygote for two previously unreported mutations: c.3291delC (p.Phe1097fs) at exon 25 and c.8198A>C (p.Gln2733Pro) at exon 58. The role of the identified ATM gene mutations in the pathogenesis of Ataxia Telangiectasia and the coexisting cerebellar disorders is discussed. Copyright © 2016 Elsevier B.V. All rights reserved.

  6. Evaluation of a metal artifact reduction algorithm applied to post-interventional flat detector CT in comparison to pre-treatment CT in patients with acute subarachnoid haemorrhage

    Energy Technology Data Exchange (ETDEWEB)

    Mennecke, Angelika; Svergun, Stanislav; Doerfler, Arnd; Struffert, Tobias [University of Erlangen-Nuremberg, Department of Neuroradiology, Erlangen (Germany); Scholz, Bernhard [Siemens Healthcare GmbH, Forchheim (Germany); Royalty, Kevin [Siemens Medical Solutions, USA, Inc., Hoffman Estates, IL (United States)

    2017-01-15

    Metal artefacts can impair accurate diagnosis of haemorrhage using flat detector CT (FD-CT), especially after aneurysm coiling. Within this work we evaluate a prototype metal artefact reduction algorithm by comparison of the artefact-reduced and the non-artefact-reduced FD-CT images to pre-treatment FD-CT and multi-slice CT images. Twenty-five patients with acute aneurysmal subarachnoid haemorrhage (SAH) were selected retrospectively. FD-CT and multi-slice CT before endovascular treatment as well as FD-CT data sets after treatment were available for all patients. The algorithm was applied to post-treatment FD-CT. The effect of the algorithm was evaluated utilizing the pre-post concordance of a modified Fisher score, a subjective image quality assessment, the range of the Hounsfield units within three ROIs, and the pre-post slice-wise Pearson correlation. The pre-post concordance of the modified Fisher score, the subjective image quality, and the pre-post correlation of the ranges of the Hounsfield units were significantly higher for artefact-reduced than for non-artefact-reduced images. Within the metal-affected slices, the pre-post slice-wise Pearson correlation coefficient was higher for artefact-reduced than for non-artefact-reduced images. The overall diagnostic quality of the artefact-reduced images was improved and reached the level of the pre-interventional FD-CT images. The metal-unaffected parts of the image were not modified. (orig.)

  7. Acute subarachnoid haemorrhage and the mysterious ...

    African Journals Online (AJOL)

    Subarachnoid haemorrhage (SAH) is a devastating neurological insult, and is increasingly understood as a multi-system condition initiated in the central nervous system. Perioperative investigation of patients presenting for aneurysm surgery often includes a routine electrocardiogram (ECG) which frequently reveals an ...

  8. Antithrombotic drugs and subarachnoid haemorrhage risk

    DEFF Research Database (Denmark)

    Pottegård, A; García Rodríguez, L A; Poulsen, F R

    2015-01-01

    The study objective was to investigate the relationship between use of antithrombotic drugs and subarachnoid haemorrhage (SAH). We identified patients discharged from Danish neurosurgery units with a first-ever SAH diagnosis in 2000 to 2012 (n=5,834). For each case, we selected 40 age-, sex...

  9. ACQUIRED UTERINE HYPOPLASIA AFTER POSTPARTUM HAEMORRHAGE WITH WORST PROGNOSIS – A CASE REPORT

    Directory of Open Access Journals (Sweden)

    Bhavishya

    2016-03-01

    Full Text Available INTRODUCTION Postpartum haemorrhage is defined as a loss of more than 500 mL of blood after delivery. 1 Postpartum haemorrhage is responsible for around 25% of maternal morbidity worldwide (WHO, 2007. Postpartum haemorrhage can also be a cause of long term severe morbidity with approximately 12% of women who survive postpartum haemorrhage will have severe anaemia. 2 This is a case report of a patient who has come with complaints of secondary amenorrhoea three years since last child birth. The patient has a history of atonic postpartum haemorrhage. On examination by USG & MRI, the uterus was hypoplastic.

  10. The association between hypertension and traumatic intracranial haemorrhage.

    Science.gov (United States)

    Hsiao, Kuang-Yu; Lin, Leng-Chieh; Li, Wen-Cheng; Lin, Martin Hisu-Chu; Wang, Cheng-Hsien; Chen, Kai-Hua

    2015-05-01

    Control of blood pressure is considered essential in the management of trauma patients. In patients with head injuries, both hypotension and hypertension are associated with poor outcomes. The present study was undertaken to ascertain whether hypertension at emergency triage is associated with traumatic intracranial haemorrhage. From September 2012 to August 2013, data were collected prospectively for patients who presented with head injury and who received a brain CT examination at a university hospital. Factors associated with intracranial haemorrhage were identified, and logistic regression analysis was used to examine the association between hypertension at emergency department triage and traumatic brain haemorrhage. Of a total of 1457 patients enrolled in this study, 252 (17.3%) experienced traumatic intracranial haemorrhage. After controlling for factors associated with traumatic intracranial haemorrhage, an increased risk of intracranial haemorrhage following an initial brain CT scan was identified for patients presenting initially with a systolic blood pressure ≥ 180 mm Hg (odds ratio, 1.80; 95% confidence interval, 1.20-2.71, compared with those with 90-139 mm Hg). The presence of hypertension at emergency triage is associated with traumatic intracranial haemorrhage. Copyright © 2014 Elsevier Ltd. All rights reserved.

  11. A systematic review of Terson's syndrome: frequency and prognosis after subarachnoid haemorrhage

    Science.gov (United States)

    McCarron, M; Alberts, M; McCarron, P

    2004-01-01

    Methods: Papers relating to vitreous haemorrhage in patients with subarachnoid haemorrhage were retrieved. The only studies considered were those with at least 10 consecutive cases of subarachnoid haemorrhage with or without vitreous haemorrhage. The frequency of vitreous haemorrhage in such cases was calculated in prospective and retrospective studies. Mortality was compared in patients with and without Terson's syndrome. Results: 154 papers were reviewed. Three prospective studies and six retrospective studies satisfied the inclusion criteria. Of 181 patients with subarachnoid haemorrhage assessed prospectively (mean age, 51.7 years), 24 (13%) had vitreous haemorrhage; among 1086 retrospective records, 37 (3%) had documented vitreous haemorrhage (pTerson's syndrome had higher Hunt and Hess grades than those without (mean grade, 3.6 v 2.6). Patients with Terson's syndrome were also more likely to die (13 of 30 (43%) v 31 of 342 (9%); odds ratio 4.8; pTerson's syndrome than retrospective studies, suggesting that vitreous haemorrhage is not well documented. Vitreous haemorrhage is an adverse prognostic finding in patients with subarachnoid haemorrhage. PMID:14966173

  12. Ebola haemorrhagic fever

    Science.gov (United States)

    Feldmann, Heinz; Geisbert, Thomas W

    2012-01-01

    Ebola viruses are the causative agents of a severe form of viral haemorrhagic fever in man, designated Ebola haemorrhagic fever, and are endemic in regions of central Africa. The exception is the species Reston Ebola virus, which has not been associated with human disease and is found in the Philippines. Ebola virus constitutes an important local public health threat in Africa, with a worldwide effect through imported infections and through the fear of misuse for biological terrorism. Ebola virus is thought to also have a detrimental effect on the great ape population in Africa. Case-fatality rates of the African species in man are as high as 90%, with no prophylaxis or treatment available. Ebola virus infections are characterised by immune suppression and a systemic inflammatory response that causes impairment of the vascular, coagulation, and immune systems, leading to multiorgan failure and shock, and thus, in some ways, resembling septic shock. PMID:21084112

  13. Synthetic dural graft septoplasty in epistaxis from hereditary hemorrhagic telangiectasia.

    Science.gov (United States)

    Burckhardt B, Wilfred; Guerra, Claudia Patricia

    2013-07-01

    It is an autosomal dominant vascular disorder, which has a variety of clinical manifestations, with epistaxis being one of the most common. Many treatment options exist for epistaxis, but with no consensus on which is the method of choice. We describe the case of a patient with hereditary hemorrhagic telangiectasia (HHT) secondary epistaxis with septoplasty managed with synthetic hard graft, which improved intensity and frequency of bleeding episodes. This technique is a variant of the septodermoplasty described by several authors, but the use of synthetic dura can help in obtaining better results and avoid taking skin grafts from other sites different from the surgical site.

  14. Early Intraocular Complications of Subarachnoid Haemorrhage after Aneurysm Rupture.

    Science.gov (United States)

    Obuchowska, Iwona; Turek, Grzegorz; Mariak, Zenon; Mariak, Zofia

    2014-01-01

    The aim of this study was to identify factors predisposing for early intraocular complications of aneurysmal subarachnoid haemorrhage (SAH). The authors analysed 96 selected cases of aneurysmal SAH. Forty patients (42%) demonstrated abnormal fundus findings, including disc swelling (13.5%), retinal haemorrhages (23%), and vitreous haemorrhage (5%). The incidence of intraocular pathologies was significantly higher in patients who lost consciousness at the onset of SAH, were admitted with high scores of the Hunt-Hess and Fisher scales and low score of the Glasgow Coma Scale, as well as in those with arterial hypertension, more sizable aneurysm, and older.

  15. BK-viruria and haemorrhagic cystitis are more frequent in allogeneic haematopoietic stem cell transplant patients receiving full conditioning and unrelated-HLA-mismatched grafts.

    Science.gov (United States)

    Giraud, G; Priftakis, P; Bogdanovic, G; Remberger, M; Dubrulle, M; Hau, A; Gutmark, R; Mattson, J; Svahn, B-M; Ringden, O; Winiarski, J; Ljungman, P; Dalianis, T

    2008-04-01

    The influence of conditioning regimen, donor background and HLA matching on development of BK virus (BKV)-associated haemorrhagic cystitis (HC) was examined in 175 allogeneic haematopoietic stem cell transplant (HSCT) patients, undergoing 179 HSCT events. Twenty-seven patients presented late-onset HC, and BK viruria was verified in 23/27 HC events. Seventy-one (40%) HSCTs were performed with myeloablative conditioning (MC), 108 (60%) were performed with reduced intensity conditioning (RIC), 66 (37%) were performed with a related donor (RD) grafts and 113 (63%) with an unrelated donor (URD) graft. BK viruria was more common during HC, than non-HC events, after MC as compared to RIC (both PBKV (OR 6.7; 95% CI 2.0-21.7; P=0.001), MC (OR 6.0; 95% CI 2.1-17.3; PBKV (OR 8.5; 95% CI 1.8-19.3; P=0.004) and MC (OR 5.9; 95% CI 1.3-11.3; P=0.009) increased the risk for HC only with a URD, but not with an RD graft.

  16. Clinical and genetic features of ataxia-telangiectasia

    Energy Technology Data Exchange (ETDEWEB)

    Bundey, S. [Birmingham Maternity Hospital (United Kingdom). Clinical Genetics Unit

    1994-12-01

    There are several variants of ataxia-telangiectasia (A-T): classical A-T with marked radiation sensitivity; classical A-T with intermediate levels of radiation sensitivity; mild A-T with intermediate levels of radiation sensitivity; A-T without telangiectasia; A-T without oculomoto apraxia; and A-T with microcephaly. These disorders are probably caused by different allelic mutations, because affected sibs resemble the index patients, and because there is an association of certain haplo-types of 11q22-23 with specific phenotypes. The Nijmegen Breakage Syndrome, with its lack of ataxia, seems on clinical grounds to be a different disorder. Although A-T is almost always inherited as an autosomal recessive, there are some unusual features; an unexpectedly low parental consanguinity rate, an incidence in sibs that is < 0.25, and occurrence of disease in many different races and in the offspring of mixed race unions. Moreover, looking at haplotypes from 63 UK patients, there is a remarkably low incidence of homozygosity. An autosomal recessive condition that is deficient in parental consanguinity, and in homozygosity for the region around the gene, can be explained by J.H. Edwards` hypothesis that homozygosity for alleles at a neighbouring locus are lethal early in embryogenesis. Other possible mechanisms to explain the unusual genetic features are discussed. (author).

  17. Cognitive and speech-language performance in children with ataxia telangiectasia

    NARCIS (Netherlands)

    Vinck, A.; Verhagen, M.M.; Gerven, M.; Groot, I.J.M. de; Weemaes, C.M.R.; Maassen, B.A.M.; Willemsen, M.A.A.P.

    2011-01-01

    OBJECTIVE: To describe cognitive and speech-language functioning of patients with ataxia-telangiectasia (A-T) in relation to their deteriorating (oculo)motor function. DESIGN: Observational case series. METHODS: Cognitive functioning, language, speech and oral-motor functioning were examined in

  18. Cognitive and speech-language performance in children with ataxia telangiectasia

    NARCIS (Netherlands)

    Vinck, Anja; Verhagen, Mijke M. M.; van Gerven, Marjo; de Groot, Imelda J. M.; Weemaes, Corry M. R.; Maassen, Ben A. M.; Willemsen, Michel A. A. P.

    2011-01-01

    Objective: To describe cognitive and speech-language functioning of patients with ataxia-telangiectasia (A-T) in relation to their deteriorating (oculo)motor function. Design: Observational case series. Methods: Cognitive functioning, language, speech and oral-motor functioning were examined in

  19. Accidental Haemorrhage and Fetal Prognosis

    African Journals Online (AJOL)

    1974-04-17

    Apr 17, 1974 ... perinatal mortality associated with accidental haemorrhage. The importance of clinical signs in determining fetal prognosis is discussed. A suggested clinical approach to cases of accidental haemorrhage, where on admission the fetus is found to be alive in utero, is given. S. Afr. Med. l., 48, 764 (1974).

  20. Current practice in neurocritical care of patients with subarachnoid haemorrhage and severe traumatic brain injury : Results of the Austrian Neurosurvey Study.

    Science.gov (United States)

    Herzer, Günther; Illievich, Udo; Voelckel, Wolfgang G; Trimmel, Helmut

    2016-09-01

    The task force Neuroanaesthesia of the Austrian Society of Anaesthesiology, Resuscitation and Intensive Care Medicine (ÖGARI) is aiming to develop and provide recommendations in order to improve neurocritical care in Austria. Thus, a survey on neurocritical care concepts in Austria regarding intensive care of subarachnoid haemorrhage (SAH) and severe traumatic brain injury (TBI) was performed to assess the current status. An online internet questionnaire comprising 59 items on current concepts of SAH and TBI critical care was sent to 117 anaesthesiology departments. The survey was answered by 30 (25.6 %) of the hospitals, 24 (80 %) of them treating patients with SAH and/or TBI. Data from ten SAH centres reveal that definitive care was achieved within 24 h in all hospitals; a case load >50 per year is noted in 70 % of intensive care units (ICU). In all, 50 % of departments employ written protocols for treatment. Regarding the treatment of TBI patients, 14 answers were received, indicating that 42.9 % of departments provide care for >50 patients per year. Time between arrival and CT scan is discharge from the ICU, there is no evaluation of 1‑year outcome. Definitive care of SAH and TBI patients is achieved timely in Austria. When compared with SAH, more hospitals with lower case loads take care of TBI patients. Written guidelines and protocols at institutional level are often missing. Since routine morbidity and mortality conferences are sparse, and long-term outcome is not assessed, there is room for improvement.

  1. Age is not associated with intracranial haemorrhage in patients with mild traumatic brain injury and oral anticoagulation

    OpenAIRE

    Sauter, Thomas C.; Ziegenhorn, Stephan; Ahmad, Sufian S.; Hautz, Wolf E.; Ricklin, Meret E.; Leichtle, Alexander Benedikt; Fiedler, Georg-Martin; Haider, Dominik G.; Exadaktylos, Aristomenis K.

    2016-01-01

    BACKGROUND Patients admitted to emergency departments with traumatic brain injury (TBI) are commonly being treated with oral anticoagulants. In contrast to patients without anticoagulant medication, no guidelines, scores or recommendations exist for the management of mild traumatic brain injury in these patients. We therefore tested whether age as one of the high risk factors of the Canadian head CT rule is applicable to a patient population on oral anticoagulants. METHODS This cr...

  2. The Functional Role of the Ataxia Telangiectasia Gene

    National Research Council Canada - National Science Library

    Gautier, Jean

    2000-01-01

    Ataxia Telangiectasia (A-T) is an autosomal recessive disease characterized by a progressive cerebellar ataxia, severe immune deficiencies, gonadal atrophy, telangiectases, increased risk for cancer, particularly lymphomas...

  3. The Functional Role of the Ataxia Telangiectasia Gene

    National Research Council Canada - National Science Library

    Gautier, Jean

    1999-01-01

    Ataxia Telangiectasia (A-T) is an autosomal recessive disease characterized by a progressive cerebellar ataxia, severe immune deficiencies, gonadal atrophy, telangiectases, increased risk for cancer, particularly lymphomas...

  4. Dementia risk after spontaneous intracerebral haemorrhage: a prospective cohort study.

    Science.gov (United States)

    Moulin, Solène; Labreuche, Julien; Bombois, Stéphanie; Rossi, Costanza; Boulouis, Gregoire; Hénon, Hilde; Duhamel, Alain; Leys, Didier; Cordonnier, Charlotte

    2016-07-01

    Dementia occurs in at least 10% of patients within 1 year after stroke. However, the risk of dementia after spontaneous intracerebral haemorrhage that accounts for about 15% of all strokes has not been investigated in prospective studies. We aimed to determine the incidence of dementia and risk factors after an intracerebral haemorrhage. We did a prospective observational cohort study in patients with spontaneous intracerebral haemorrhage from the Prognosis of Intracerebral Haemorrhage (PITCH) cohort who were admitted to Lille University Hospital, Lille, France. We included patients aged 18 years and older with parenchymal haemorrhage on the first CT scan. Exclusion criteria were pure intraventricular haemorrhage; intracerebral haemorrhage resulting from intracranial vascular malformation, intracranial venous thrombosis, head trauma, or tumour; haemorrhagic transformation within an infarct; and referral from other hospitals. Median follow-up was 6 years. We studied risk factors (clinical and neuroradiological [MRI] biomarkers) of new-onset dementia as per a prespecified subgroup analysis, according to intracerebral haemorrhage location. Dementia diagnosis was based on the National Institute on Aging-Alzheimer's Association criteria for all-cause dementia. We did multivariable analyses using competing risk analyses, with death during follow-up as a competing event. From the 560 patients with spontaneous intracerebral haemorrhage enrolled in the PITCH cohort between Nov 3, 2004 and March 29, 2009, we included 218 patients (median age 67·5 years) without pre-existing dementia who were alive at 6 months follow-up. 63 patients developed new-onset dementia leading to an incidence rate of 14·2% (95% CI 10·0-19·3) at 1 year after intracerebral haemorrhage, and incidence reached 28·3% (22·4-34·5) at 4 years. The incidence of new-onset dementia was more than two times higher in patients with lobar intracerebral haemorrhage (incidence at 1 year 23·4%, 14·6-33·3

  5. Intracerebral haemorrhage after carotid endarterectomy

    DEFF Research Database (Denmark)

    Schroeder, T; Sillesen, H; Boesen, J

    1987-01-01

    Among 662 consecutive carotid endarterectomies eight cases of postoperative ipsilateral intracerebral haemorrhage were identified, occurring into brain areas which, preoperatively were without infarction. As blood pressures across the stenosis were routinely measured during surgery, the internal...

  6. Haemorrhagic pulmonary oedema following postoperative ...

    African Journals Online (AJOL)

    Haemorrhagic pulmonary oedema following postoperative laryngospasm after ear reconstructive surgery: A case report. ... Nigerian Journal of Plastic Surgery ... report by Oswalt in 1977 some cases of postanaesthetic laryngospasm causing pulmonary oedema, have been reported in the anaesthesia and surgery literature.

  7. DNA synthesis in ataxia telangiectasia

    NARCIS (Netherlands)

    N.G.J. Jaspers (Nicolaas)

    1985-01-01

    textabstractAfter the discovery that cultured cells from AT patients are hypersensitive to ionizing radiation the suggestion was made that AT-could be the 1 X-ray-analogue 1 of xeroderma pigmentosum. The latter syndrome (XP) is characterized by hypersensitivity to short-wave UV-radiation, caused by

  8. Characterizing amide proton transfer imaging in haemorrhage brain lesions using 3T MRI

    Energy Technology Data Exchange (ETDEWEB)

    Jeong, Ha-Kyu [Philips Korea, Seoul (Korea, Republic of); Korea Basic Science Institute, Chungcheongbuk-do (Korea, Republic of); Han, Kyunghwa [Yonsei University College of Medicine, Department of Radiology and Research Institute of Radiological Science, Seodaemun-gu, Seoul (Korea, Republic of); Yonsei University College of Medicine, Yonsei Biomedical Research Institute, Seoul (Korea, Republic of); Zhou, Jinyuan [Johns Hopkins University School of Medicine, Division of MRI Research, Department of Radiology, Baltimore, MD (United States); Zhao, Yansong [Philips Healthcare, MR Clinical Science, Cleveland, OH (United States); Choi, Yoon Seong; Lee, Seung-Koo; Ahn, Sung Soo [Yonsei University College of Medicine, Department of Radiology and Research Institute of Radiological Science, Seodaemun-gu, Seoul (Korea, Republic of)

    2017-04-15

    The aim of this study was to characterize amide proton transfer (APT)-weighted signals in acute and subacute haemorrhage brain lesions of various underlying aetiologies. Twenty-three patients with symptomatic haemorrhage brain lesions including tumorous (n = 16) and non-tumorous lesions (n = 7) were evaluated. APT imaging was performed and analyzed with magnetization transfer ratio asymmetry (MTR{sub asym}). Regions of interest were defined as the enhancing portion (when present), acute or subacute haemorrhage, and normal-appearing white matter based on anatomical MRI. MTR{sub asym} values were compared among groups and components using a linear mixed model. MTR{sub asym} values were 3.68 % in acute haemorrhage, 1.6 % in subacute haemorrhage, 2.65 % in the enhancing portion, and 0.38 % in normal white matter. According to the linear mixed model, the distribution of MTR{sub asym} values among components was not significantly different between tumour and non-tumour groups. MTR{sub asym} in acute haemorrhage was significantly higher than those in the other regions regardless of underlying pathology. Acute haemorrhages showed high MTR{sub asym} regardless of the underlying pathology, whereas subacute haemorrhages showed lower MTR{sub asym} than acute haemorrhages. These results can aid in the interpretation of APT imaging in haemorrhage brain lesions. (orig.)

  9. Proteomic Characterization of Cerebrospinal Fluid from Ataxia-Telangiectasia (A-T Patients Using a LC/MS-Based Label-Free Protein Quantification Technology

    Directory of Open Access Journals (Sweden)

    Monika Dzieciatkowska

    2011-01-01

    Full Text Available Cerebrospinal fluid (CSF has been used for biomarker discovery of neurodegenerative diseases in humans since biological changes in the brain can be seen in this biofluid. Inactivation of A-T-mutated protein (ATM, a multifunctional protein kinase, is responsible for A-T, yet biochemical studies have not succeeded in conclusively identifying the molecular mechanism(s underlying the neurodegeneration seen in A-T patients or the proteins that can be used as biomarkers for neurologic assessment of A-T or as potential therapeutic targets. In this study, we applied a high-throughput LC/MS-based label-free protein quantification technology to quantitatively characterize the proteins in CSF samples in order to identify differentially expressed proteins that can serve as potential biomarker candidates for A-T. Among 204 identified CSF proteins with high peptide-identification confidence, thirteen showed significant protein expression changes. Bioinformatic analysis revealed that these 13 proteins are either involved in neurodegenerative disorders or cancer. Future molecular and functional characterization of these proteins would provide more insights into the potential therapeutic targets for the treatment of A-T and the biomarkers that can be used to monitor or predict A-T disease progression. Clinical validation studies are required before any of these proteins can be developed into clinically useful biomarkers.

  10. Clinical performance and patient outcome after simulation-based training in prevention and management of postpartum haemorrhage : an educational intervention study in a low-resource setting

    NARCIS (Netherlands)

    Nelissen, Ellen; Ersdal, Hege; Mduma, Estomih; Evjen-Olsen, Bjørg; Twisk, Jos; Broerse, Jacqueline; van Roosmalen, Jos; Stekelenburg, Jelle

    2017-01-01

    BACKGROUND: Postpartum haemorrhage (PPH) is a major cause of maternal mortality. Prevention and adequate treatment are therefore important. However, most births in low-resource settings are not attended by skilled providers, and knowledge and skills of healthcare workers that are available are low.

  11. Clinical performance and patient outcome after simulation-based training in prevention and management of postpartum haemorrhage : An educational intervention study in a low-resource setting

    NARCIS (Netherlands)

    Nelissen, Ellen; Ersdal, Hege; Mduma, Estomih; Evjen-Olsen, Bjorg; Twisk, Jos; Broerse, Jacqueline; van Roosmalen, Jos; Stekelenburg, Jelle

    2017-01-01

    Background: Postpartum haemorrhage (PPH) is a major cause of maternal mortality. Prevention and adequate treatment are therefore important. However, most births in low-resource settings are not attended by skilled providers, and knowledge and skills of healthcare workers that are available are low.

  12. Ataxia Telangiectasia - A Report of a case in Port Harcourt

    African Journals Online (AJOL)

    TNHJOURNALPH

    Ataxia Telangiectasia - A Report of a case in Port Harcourt. Lucy Yaguo-Ide, Tochi Uchenwa, BalafamaAlex-Hart, Alice Nte, Chidi Ezeani. Department ofPeadiatrics and Child Health, University of Port Harcourt Teaching Hospital, Port. Harcourt, Nigeria. ABSTRACT. BACKGROUND. Ataxia telangiectasia is acomplex multi-.

  13. DNA synthesis in ataxia telangiectasia

    OpenAIRE

    Jaspers, Nicolaas

    1985-01-01

    textabstractAfter the discovery that cultured cells from AT patients are hypersensitive to ionizing radiation the suggestion was made that AT-could be the 1 X-ray-analogue 1 of xeroderma pigmentosum. The latter syndrome (XP) is characterized by hypersensitivity to short-wave UV-radiation, caused by a reduced ability to properly remove UV-induced DNA damage. The evidence for a DNA repair defect in AT cells is not as strong as in the case of XP (see section 2.2.5 of this thesis). Different XP p...

  14. ENG mutational mosaicism in a family with hereditary hemorrhagic telangiectasia

    DEFF Research Database (Denmark)

    Tørring, Pernille M; Kjeldsen, Anette D; Ousager, Lilian Bomme

    2018-01-01

    BACKGROUND: Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant genetic disorder caused by mutations in ENG, ACVRL1, or SMAD4. Around 90% of HHT patients present with a heterozygous pathogenic genetic variation. Almost all cases of HHT have a family history. Very few cases are de......, and the flanking sequences of the genes were sequenced by NGS. RESULTS: The proband had clinical HHT fulfilling the Curaçao criteria and genetic testing identified a frameshift mutation in ENG. The mother of the proband, also with clinical HHT, was found negative when analyzing DNA from blood for the familial...... mutation using Sanger sequencing. Analyzing her DNA by NGS HHT panel sequencing when extracted from both peripheral blood leukocytes, and cheek swabs, identified the familial ENG mutation at low levels. CONCLUSION: We provide evidence of ENG mutational mosaicism in an individual presenting with clinical...

  15. How often is haemosiderin not visible on routine MRI following traumatic intracerebral haemorrhage?

    Energy Technology Data Exchange (ETDEWEB)

    Wardlaw, J.M.; Statham, P.F.X. [Dept. of Clinical Neurosciences, Western General Hospital, Edinburgh (United Kingdom)

    2000-02-01

    Intracerebral haemorrhage may be visible indefinitely on MRI, due to persistence of haemosiderin in macrophages around the lesion, but it is not clear whether all haemorrhages produce haemosiderin or, if not, what proportion cannot be identified as former haemorrhages on routine MRI. We performed routine MRI (spin-echo T2- and proton-density weighted images) in 116 survivors of moderate to severe head injury, 1-5 years after injury. We reviewed the images blindly and correlated them with CT in the acute stage, to determine how many haemorrhages from the acute stage were identifiable by virtue of haemosiderin deposition on late MRI. Of 106 haemorrhages in 78 patients on CT at the time of injury, 96 (90 %) were visible as haemosiderin on late MRI. Of the old haemorrhages without haemosiderin, seven of ten were in patients where another haemorrhage with haemosiderin was still visible elsewhere in the brain. No patient or haemorrhage features explained the formation or absence of haemosiderin. Thus about 10 % of definite haematomas show no trace of haemosiderin on routine spin-echo MRI. Radiologists should be alerted to supplement routine spin-echo with gradient-echo sequences if there is a reason to suspect, or specifically exclude, prior haemorrhage. (orig.)

  16. Cortical spreading ischaemia is a novel process involved in ischaemic damage in patients with aneurysmal subarachnoid haemorrhage

    DEFF Research Database (Denmark)

    Dreier, Jens P; Major, Sebastian; Manning, Andrew

    2009-01-01

    The term cortical spreading depolarization (CSD) describes a wave of mass neuronal depolarization associated with net influx of cations and water. Clusters of prolonged CSDs were measured time-locked to progressive ischaemic damage in human cortex. CSD induces tone alterations in resistance vessels...... to tissue hypoxia. Clusters of prolonged CSDs were measured in five patients in close proximity to structural brain damage as assessed by neuroimaging. Clusters were associated with CSD-induced spreading hypoperfusions, which were significantly longer in duration (up to 144 min) than those of isolated CSDs......-invasive detection of CSD. Low-frequency vascular fluctuations (LF-VF) (f brain's resting neuronal activity. CSD provides a depolarization block of the resting activity, recorded electrophysiologically as spreading depression of high...

  17. Nosocomial outbreak of Crimean-Congo haemorrhagic fever.

    Science.gov (United States)

    Naderi, H R; Sarvghad, M R; Bojdy, A; Hadizadeh, M R; Sadeghi, R; Sheybani, F

    2011-06-01

    We report a nosocomial outbreak of Crimean-Congo haemorrhagic fever (CCHF) that affected six patients in June 2009 in Ghaem Hospital, Mashhad, Iran, apparently related to one index case. The last four cases were healthcare workers. Infection was spread by percutaneous exposure to two cases, and probably by direct contact with blood, clothes and sheets, to three others. The diagnosis in the two fatal cases was not confirmed virologically. The diagnosis in four cases who survived was confirmed by specific reverse transcription polymerase chain reaction. The patients were treated with ribavirin. In endemic areas, every patient presenting with a febrile haemorrhagic syndrome should be considered to have a viral haemorrhagic fever until proven otherwise. Patients who meet the criteria for probable CCHF should be admitted to hospital and treated with ribavirin. Appropriate isolation precautions should be immediately initiated.

  18. The value of MRI in angiogram-negative intracranial haemorrhage

    Energy Technology Data Exchange (ETDEWEB)

    Renowden, S.A. (Dept. of Neuroradiology, Radcliffe Infirmary, Oxford (United Kingdom)); Molyneux, A.J. (Dept. of Neuroradiology, Radcliffe Infirmary, Oxford (United Kingdom)); Anslow, P. (Dept. of Neuroradiology, Radcliffe Infirmary, Oxford (United Kingdom)); Byrne, J.V. (Dept. of Neuroradiology, Radcliffe Infirmary, Oxford (United Kingdom))

    1994-08-01

    In one year, cerebral angiograms were performed for intracranial haemorrhage (ICH) on 334 patients. No cause for haemorrhage could be identified in 41 (12 %), 30 of whom had predominantly subarachnoid (SAH) and 11 predominantly parenchymal haemorrhage (PH). These patients were prospectively examined by cranial MRI 1-6 weeks after the ictus. The MRI studies were positive in 7 patients (17 %). In the 30 patients examined after SAH, 2 studies were positive, showing an aneurysm in one case and a brain stem lesion of uncertain aetiology in the other. In those examined after PH, cavernous angiomas were shown in 2, a tumour in 1 and a vascular malformation in another; useful diagnostic information was thus obtained in 36 % of this group. (orig.)

  19. Emergency Imaging of Intracerebral Haemorrhage.

    Science.gov (United States)

    Alobeidi, Farah; Aviv, Richard I

    2015-01-01

    Spontaneous intracerebral haemorrhage (ICH) is a devastating condition with high mortality and morbidity despite advances in neurocritical care. Early deterioration is common in the first few hours after ICH onset, secondary to rapid haematoma expansion and growth. Rapid diagnosis and aggressive early management of these patients are therefore crucial. Imaging plays a key role in establishing the diagnosis and the underlying aetiology of ICH, identifying complications and predicting patients who are at high risk for haematoma expansion. In this chapter, we present an evidence-based imaging framework for the management of spontaneous ICH in the acute setting. Non-enhanced computed tomography is long established as the gold standard for ICH diagnosis but has limitations in demonstrating the underlying aetiology in cases of secondary ICH. There is now growing evidence for the ability of non-invasive angiography to establish the underlying aetiology and to predict further haematoma expansion. The presence of small enhancing foci within the haematoma on computed tomography angiography (CTA), the CTA Spot Sign, has been prospectively validated as a predictor of haematoma expansion. Early identification of patients at risk of haematoma expansion allows for the appropriate escalation of care to a neurosurgical team, admission to a neurocritical care unit, appropriate supportive therapy and targeted novel medical and surgical interventions. Catheter angiography, which remains the gold standard for identifying underlying secondary vascular lesions, should be used in selected cases. However, non-invasive vascular imaging should be considered as an important step in the diagnosis and early management of secondary ICH patients. Previous concerns related to the radiation dose, contrast-induced nephropathy and cost are addressed in this chapter. Recently, animal models have enabled the qualitative assessment of haematoma expansion, and our increased understanding of ICH may

  20. Transcranial Doppler velocimetry in aneurysmal subarachnoid haemorrhage

    DEFF Research Database (Denmark)

    Staalsø, J M; Edsen, T; Romner, B

    2013-01-01

    BACKGROUND: /st>Transcranial Doppler measurements of the middle cerebral artery flow velocity are widely used as an indicator of vasospasm after aneurysmal subarachnoid haemorrhage (SAH). We investigated inter- and intraoperator agreement in SAH patients and healthy volunteers using colour......-coded transcranial Doppler (TCCD), with the secondary aim of describing prediction of angiographic vasospasm and mortality. METHODS: /st>Sixty patients and 70 healthy controls were each examined in duplicate by alternating operators. A total of 939 measurements divided on 201 examination sets were conducted by four...

  1. Late onset retinoblastoma presenting with vitreous haemorrhage

    DEFF Research Database (Denmark)

    Bagger, Mette; Prause, Jan Ulrik; Heegard, Steffen

    2012-01-01

    in the retina. A vascularized gelatinous mass was revealed after vitrectomy. Later the patient developed white cysts in the anterior chamber and histological findings were indicative of a retinoblastoma. The patient was enucleated and the diagnosis of retinoblastoma was confirmed. Intraocular surgery in young...... people with unknown retinoblastoma enhances the risk of metastasis development, orbital recurrence and death. Unexplained vitreous haemorrhage can obscure the view of a tumour but ultrasonic findings of a retinal mass calls for further imaging e.g. through MRI. The case illustrates the importance...

  2. Ataxia-telangiectasia: the pattern of cerebellar atrophy on MRI

    Energy Technology Data Exchange (ETDEWEB)

    Tavani, F. [Department of Radiology, University of Modena (Italy); Zimmerman, R.A.; Gatti, R.; Bingham, P. [Department of Radiology, Children' s Hospital of Philadelphia, 34th Street and Civic Center Boulevard, PA 19104, Philadelphia (United States); Berry, G.T. [Department of Endocrinology, Children' s Hospital of Philadelphia, 34th Street and Civic Center Boulevard, PA 19104, Philadelphia (United States); Sullivan, K. [Department of Immunology, Children' s Hospital of Philadelphia, 34th Street and Civic Center Boulevard, PA 19104, Philadelphia (United States)

    2003-05-01

    We describe MRI of the brain in 19 patients with ataxia-telangiectasia (AT) and correlate the appearances with the degree of neurologic deficit. We examined 10 male and nine female patients; 17 were aged between 2 and 12 years (mean 8 years) but a woman and her brother were 35 and 38 years old, and had a variant of AT. Ataxia was the first recognized sign of the disease in every patient. We detected the following patterns of cerebellar atrophy: in the youngest patient, aged 2 years, the study was normal; in the five next youngest patients 3-7 years of age, the lateral cerebellum and superior vermis showed the earliest changes of atrophy; and all but one of the other patients had moderate to marked diffuse atrophy of vermis and cerebellar hemispheres. There were 12 patients aged 9 years and above; one, who was normal, was 9 years old. The five patients who at the time of examination were unable to walk all had diffuse atrophy involving both vermis and cerebellar hemispheres. (orig.)

  3. Accurate diagnostics of ataxia-telangiectasia cellular phenotype by employing in vitro lymphocyte radiosensitivity testing

    Directory of Open Access Journals (Sweden)

    Vujić Dragana S.

    2013-01-01

    Full Text Available In this paper we present the data of lymphocyte radiosensitivity testing used for characterization of radiosensitive cellular phenotype and diagnostics of ataxia-telangiectasia disease. We point out the advantage of lymphocyte micronucleus test (CBMN over other cellular tests for assessment of radiosensitivity: the first advantage of CBMN is that primary patient cells are used (less than 1 ml, the second one is that the results of testing are obtained within 3 days and there is no need for establishing a patient-derived cell line, which requires additional time and application of more expensive methods. The third advantage of CBMN method is that it gives information about proliferative ability of cells, which can recognize dysfunctional ataxia-telangiectasia mutated protein. The results are fast and accurate in diagnostics of ataxia-telagiectasia diseases.

  4. Clinical performance and patient outcome after simulation-based training in prevention and management of postpartum haemorrhage: an educational intervention study in a low-resource setting.

    Science.gov (United States)

    Nelissen, Ellen; Ersdal, Hege; Mduma, Estomih; Evjen-Olsen, Bjørg; Twisk, Jos; Broerse, Jacqueline; van Roosmalen, Jos; Stekelenburg, Jelle

    2017-09-11

    Postpartum haemorrhage (PPH) is a major cause of maternal mortality. Prevention and adequate treatment are therefore important. However, most births in low-resource settings are not attended by skilled providers, and knowledge and skills of healthcare workers that are available are low. Simulation-based training effectively improves knowledge and simulated skills, but the effectiveness of training on clinical behaviour and patient outcome is not yet fully understood. The aim of this study was to assess the effect of obstetric simulation-based training on the incidence of PPH and clinical performance of basic delivery skills and management of PPH. A prospective educational intervention study was performed in a rural referral hospital in Tanzania. Sixteen research assistants observed all births with a gestational age of more than 28 weeks from May 2011 to June 2013. In March 2012 a half-day obstetric simulation-based training in management of PPH was introduced. Observations before and after training were compared. The main outcome measures were incidence of PPH (500-1000 ml and >1000 ml), use and timing of administration of uterotonic drugs, removal of placenta by controlled cord traction, uterine massage, examination of the placenta, management of PPH (>500 ml), and maternal and neonatal mortality at 24 h. Three thousand six hundred twenty two births before and 5824 births after intervention were included. The incidence of PPH (500-1000 ml) significantly reduced from 2.1% to 1.3% after training (effect size Cohen's d = 0.07). The proportion of women that received oxytocin (87.8%), removal of placenta by controlled cord traction (96.5%), and uterine massage after birth (93.0%) significantly increased after training (to 91.7%, 98.8%, 99.0% respectively). The proportion of women who received oxytocin as part of management of PPH increased significantly (before training 43.0%, after training 61.2%). Other skills in management of PPH improved (uterine massage

  5. EFFECT OF DARK ADAPTATION AND BLEACHING ON BLUE LIGHT REFLECTANCE IMAGING IN MACULAR TELANGIECTASIA TYPE 2.

    Science.gov (United States)

    Okada, Mali; Heeren, Tjebo F C; Egan, Catherine A; Rocco, Vincent; Bonelli, Roberto; Fruttiger, Marcus

    2017-06-26

    In patients with macular telangiectasia Type 2, blue light reflectance imaging reveals an oval, parafoveal area in the macula that has increased reflectance compared with its surrounding. Here, we examine how dark adaptation and photobleaching can affect the blue light reflectance imaging pattern. Prospective study of patients with macular telangiectasia enrolled in the MacTel Natural History Observation Study. After dark adaptation, a sequence of images was obtained with a confocal scanning laser ophthalmoscope at 488 nm. Change of reflectance patterns was analyzed over time. Eighteen eyes from 16 patients were analyzed. Initially, increased reflectivity in the parafoveal area resulted in higher gray values compared with the paramacular surrounding on blue light reflectance imaging. The difference between parafoveal and paramacular reflectance intensity decreased steadily during imaging, from 17.7 gray-value units (95% confidence interval: 12.1-23.2) down to 2.8 (95% confidence interval: -0.8 to 6.5) after around 30 seconds, and recovered after 5 minutes of dark adaptation. A bleaching effect was evident in our study. Understanding these changes is important for both diagnosis and assessment of blue light reflectance phenotype in patients with macular telangiectasia and could also provide further insights into the pathophysiology of this disease.

  6. Causes of Vitreous Haemorrhage In Port Harcourt; A 3 Year Review.

    African Journals Online (AJOL)

    Alasia Datonye

    Visual loss in cases of vitreous haemorrhage depends on the density of the haemorrhage and even 10 micolitres of blood can reduce vision to hand. 1 movement. Our study revealed that our patients had visual loss ranging from hand movement(HM) to 'no light perception'(NLP) (see Table 2). This pattern of the presenting.

  7. Optimal management of hereditary hemorrhagic telangiectasia

    Directory of Open Access Journals (Sweden)

    Garg N

    2014-10-01

    Full Text Available Neetika Garg,1 Monica Khunger,2 Arjun Gupta,3 Nilay Kumar4 1Department of Medicine, Beth Israel Deaconess Medical Center, Boston, MA, USA; 2Department of Medicine, All India Institute of Medical Sciences, New Delhi, India; 3Department of Medicine, UT Southwestern Medical Center, Dallas, TX, USA; 4Department of Medicine, Cambridge Health Alliance/Harvard Medical School, Cambridge, MA, USA Abstract: Hereditary hemorrhagic telangiectasia (HHT, also known by the eponym Osler–Weber–Rendu syndrome, is a group of related disorders inherited in an autosomal dominant fashion and characterized by the development of arteriovenous malformations (AVM in the skin, mucous membranes, and/or internal organs such as brain, lungs, and liver. Its prevalence is currently estimated at one in 5,000 to 8,000. Most cases are due to mutations in the endoglin (HHT1 or ACVRLK1 (HHT2 genes. Telangiectasias in nasal and gastrointestinal mucosa generally present with recurrent/chronic bleeding and iron deficiency anemia. Larger AVMs occur in lungs (~40%–60% of affected individuals, liver (~40%–70%, brain (~10%, and spine (~1%. Due to the devastating and potentially fatal complications of some of these lesions (for example, strokes and brain abscesses with pulmonary AVMs, presymptomatic screening and treatment are of utmost importance. However, due to the rarity of this condition, many providers lack an appreciation for the whole gamut of its manifestations and complications, age-dependent penetrance, and marked intrafamilial variation. As a result, HHT remains frequently underdiagnosed and many families do not receive the appropriate screening and treatments. This article provides an overview of the clinical features of HHT, discusses the clinical and genetic diagnostic strategies, and presents an up-to-date review of literature and detailed considerations regarding screening for visceral AVMs, preventive modalities, and treatment options. Keywords: arteriovenous

  8. Impact of early surgery after aneurysmal subarachnoid haemorrhage.

    NARCIS (Netherlands)

    Jagt, M. van der; Hasan, D.; Dippel, D.W.; Dijk, E.J.; Avezaat, C.J.; Koudstaal, P.J.

    2009-01-01

    OBJECTIVES: To investigate the effect of early aneurysm surgery (<72 h) on outcome in patients with subarachnoid haemorrhage (SAH). MATERIALS AND METHODS: We studied two consecutive series of patients with aneurysmal SAH [postponed surgery (PS) cohort, n = 118, 1989-1992: surgery was planned on

  9. Septicaemia and adrenal haemorrhage in congenital asplenia.

    Science.gov (United States)

    Dyke, M P; Martin, R P; Berry, P J

    1991-01-01

    Five patients developed overwhelming infection as a result of congenital asplenia, which was previously unsuspected in all cases. Each illness followed a fulminant course resulting in death within 24 hours. They illustrate the respective roles of Haemophilus influenzae infection (n = 4) and adrenal haemorrhage (n = 4) in this condition. We suggest a management protocol for screening infants with abnormalities of the atria or viscera with splenic ultrasound and examination of a blood film for Howell-Jolly bodies. Vaccination and prophylactic antibiotics should be considered for those at risk. Vigorous use of parenteral antibiotics and steroids in suspected infection is recommended. PMID:2039257

  10. THE PREVALENCE OF INTRAVENTRICULAR HAEMORRHAGE

    African Journals Online (AJOL)

    Esem

    Health, United States of America. REFERENCES. 1. Annibale D. J, Hill J.: Periventricular-Intraventricular haemorrhage. emedicine specialties>paediatrics: cardiac diseases and critical care medicine>neonatology, November 2008. 2. Behrman R. E, Kliegman R. M., Jenson H. B. Nelson th textbook of paediatrics,17 edition, ...

  11. THE PREVALENCE OF INTRAVENTRICULAR HAEMORRHAGE

    African Journals Online (AJOL)

    Esem

    Department of Paediatrics and Child Health, University Teaching Hospital, Lusaka. *Corresponding Author. Justin Mulindwa ... haemorrhage in preterm infants with birth weight 1.5kg and less was 34.2% in the first seven days of ..... American Journal of Perinatology; 2007 Jan;. 24(1):17-21. Medical Journal of Zambia, Vol.

  12. Lymphoid tumours and breast cancer in ataxia telangiectasia; substantial protective effect of residual ATM kinase activity against childhood tumours

    NARCIS (Netherlands)

    Reiman, A.; Srinivasan, V.; Barone, G.; Last, J.I.; Wootton, L.L.; Davies, E.G.; Verhagen, M.M.; Willemsen, M.A.A.P.; Weemaes, C.M.R.; Byrd, P.J.; Izatt, L.; Easton, D.F.; Thompson, D.J.; Taylor, A.M.

    2011-01-01

    BACKGROUND: Immunodeficiency in ataxia telangiectasia (A-T) is less severe in patients expressing some mutant or normal ATM kinase activity. We, therefore, determined whether expression of residual ATM kinase activity also protected against tumour development in A-T. METHODS: From a total of 296

  13. Uterine artery embolization: an effective treatment for intractable obstetric haemorrhage

    Energy Technology Data Exchange (ETDEWEB)

    Hong, T.-M.; Tseng, H.-S. E-mail: hstseng@vghtpe.gov.tw; Lee, R.-C.; Wang, J.-H.; Chang, C.-Y

    2004-01-01

    AIM: To present the findings of uterine artery embolization (UAE) in the management of obstetric haemorrhage. MATERIALS AND METHODS: From October 1999 to February 2003, 10 women with postpartum haemorrhage (n=7) and post-abortion haemorrhage with placenta accreta (n=3), were referred to our department for pelvic angiography and possible arterial embolization. RESULTS: Angiography revealed engorged and tortuous uterine arteries in all patients; and contrast medium extravasation in three patients. Eight patients (three with and five without detectable active bleeding) then underwent bilateral UAE. Medium-sized (250-355 {mu}m) polyvinyl alcohol particles were injected via a coaxial catheter into the uterine arteries, followed by gelatin sponge pieces via a 4 F Cobra catheter. Microcoil devascularization was also performed in the two patients with visible, active bleeding. The vaginal bleeding resolved in all patients, without any ischaemic complications. At follow-up, all patients who underwent UAE had normal menstruation; three of them subsequently gave birth to full-term healthy babies. CONCLUSION: Selective UAE by the coaxial method is safe and effective to control obstetric haemorrhage, with the potential to preserve fertility.

  14. 5'UTR mutations of ENG cause hereditary hemorrhagic telangiectasia

    Directory of Open Access Journals (Sweden)

    Damjanovich Kristy

    2011-12-01

    Full Text Available Abstract Background Hereditary hemorrhagic telangiectasia (HHT is a vascular disorder characterized by epistaxis, arteriovenous malformations, and telangiectases. The majority of the patients have a mutation in the coding region of the activin A receptor type II-like 1 (ACVRL1 or Endoglin (ENG gene. However, in approximately 15% of cases, sequencing analysis and deletion/duplication testing fail to identify mutations in the coding regions of these genes. Knowing its vital role in transcription and translation control, we were prompted to investigate the 5'untranslated region (UTR of ENG. Methods and Results We sequenced the 5'UTR of ENG for 154 HHT patients without mutations in ENG or ACVRL1 coding regions. We found a mutation (c.-127C > T, which is predicted to affect translation initiation and alter the reading frame of endoglin. This mutation was found in a family with linkage to the ENG, as well as in three other patients, one of which had an affected sibling with the same mutation. In vitro expression studies showed that a construct with the c.-127C > T mutation alters the translation and decreases the level of the endoglin protein. In addition, a c.-9G > A mutation was found in three patients, one of whom was homozygous for this mutation. Expression studies showed decreased protein levels suggesting that the c.-9G > A is a hypomorphic mutation. Conclusions Our results emphasize the need for the inclusion of the 5'UTR region of ENG in clinical testing for HHT.

  15. Dose - response relationship of bevacizumab in hereditary hemorrhagic telangiectasia.

    Science.gov (United States)

    Azzopardi, Nicolas; Dupuis-Girod, Sophie; Ternant, David; Fargeton, Anne-Emmanuelle; Ginon, Isabelle; Faure, Frédéric; Decullier, Evelyne; Roux, Adeline; Carette, Marie-France; Gilbert-Dussardier, Brigitte; Hatron, Pierre-Yves; Lacombe, Pascal; Leguy-Seguin, Vanessa; Rivière, Sophie; Corre, Romain; Bailly, Sabine; Paintaud, Gilles

    2015-01-01

    Hereditary hemorrhagic telangiectasia (HHT), a genetic vascular disorder associated with epistaxis and hepatic shunts, is responsible for high-output cardiac failure in rare cases. Bevacizumab, which targets vascular endothelial growth factor, was shown to decrease both cardiac index (CI) and epistaxis duration in HHT patients with severe liver involvement. The relationship between its serum concentration and change in both CI and epistaxis duration was investigated to design the bevacizumab maintenance dosing regimen of future therapeutic studies. Twenty-five HHT patients with dyspnea and high CI were included in a prospective non-comparative study. They received bevacizumab at a dose of 5 mg/kg per infusion every 14 days for a total of 6 injections. The relationships between bevacizumab serum concentration and both CI and epistaxis duration were described using transit compartments and direct inhibition pharmacokinetic-pharmacodynamic models. The performances of different maintenance regimens were evaluated using simulation. Infusions every 3, 2 and one months were predicted to maintain 41%, 45% and 50% of patients with CI <4 L/min/m(2) at 24 months, respectively. The fraction of patients with <20 min epistaxis per month was predicted to be 34%, 43% and 60%, with infusion every 3, 2 or one months, respectively. Simulations of the effects of different maintenance dosing regimens predict that monthly 5 mg/kg infusions of bevacizumab should allow sustained control of both cardiac index and epistaxis.

  16. Spontaneous haemorrhage and rupture of third ventricular colloid cyst.

    LENUS (Irish Health Repository)

    Ogbodo, Elisha

    2012-01-01

    Acute bleeding within a colloid cyst of the third ventricle represents a rare event causing sudden increase in the cyst volume that may lead to acute hydrocephalus and rapid neurological deterioration. We report a case of spontaneous rupture of haemorrhagic third ventricular colloid cyst and its management. A 77-year-old ex-smoker presented with unsteady gait, incontinence and gradually worsening confusion over a 3-week period. Brain CT scan findings were highly suggestive of a third ventricular colloid cyst with intraventricular rupture. He underwent cyst excision and histopathology, which confirmed the radiological diagnosis with evidence of haemorrhage within the cyst. A ventriculo peritoneal shunt was performed for delayed hydrocephalus. Surgical management of these patients must include emergency ventriculostomy followed by prompt surgical removal of the haemorrhagic cyst.

  17. Haemorrhagic Lumbar Juxtafacet Cyst with Ligamentum Flavum Involvement

    Directory of Open Access Journals (Sweden)

    Finn Ghent

    2014-01-01

    Full Text Available Juxtafacet cysts are an uncommon cause of radiculopathy. They occur most frequently in the lumbar region, and their distribution across the spine correlates with mobility. Haemorrhagic complications are rare and may occur in the absence of any provocation, although there is some association with anticoagulation and trauma. We present a case of acute radiculopathy due to an L5/S1 juxtafacet cyst with unprovoked haemorrhage which was found to extend into ligamentum flavum. The patient underwent uncomplicated microscope assisted decompression with excellent results. The demographics, presentation, aetiology, and management of juxtafacet cysts are discussed.

  18. Traumatic Haemorrhagic Cervical Lymphadenopathy with Underlying Infectious Mononucleosis

    Directory of Open Access Journals (Sweden)

    George Rahmani

    2017-01-01

    Full Text Available A 16-year-old male presented to the Emergency Department with a painful 3 × 3 cm left-sided neck swelling six hours following blunt trauma to the neck from a heavy swinging door. A CT angiogram was performed which revealed a large haemorrhagic lymph node as well as generalised cervical lymphadenopathy. The patient was eventually diagnosed with infectious mononucleosis. This case report describes a rare case of traumatic haemorrhagic cervical lymphadenopathy with an underlying diagnosis of infectious mononucleosis.

  19. Neurodegeneration in ataxia-telangiectasia is caused by horror autotoxicus.

    Science.gov (United States)

    Kuljis, R O; Aguila, M C

    1999-05-01

    Ataxia-telangiectasia (A-T) is a pleiotropic, multi-system disorder with manifestations that include immune deficiency, sensitivity to ionizing radiation and neoplasms. Many of these manifestations are understood in principle since the identification in A-T patients of mutations in a gene encoding a protein kinase that plays a key role in signaling and repair of DNA damage. However, the cause of the neurodegeneration that afflicts patients with A-T for at least a decade before they succumb to overwhelming infections or malignancy remains mysterious. Based on our work in a mouse model of A-T and previous evidence of extra-neural autoimmune disorders in A-T, we postulate that the neurodegenerative process in A-T is not due to a function for A-T mutated (ATM) essential for the postnatal brain, but to an autoimmune process (hence 'horror autotoxicus', Paul Ehrlich's term for autoimmune disorder). This hypothetical mechanism may be analogous to that in the so-called 'paraneoplastic' neurodegenerative syndromes in patients with various malignancies. Thus, alterations in the balance between cellular and humoral immunity in A-T probably result in autoantibodies to cerebral epitopes shared with cells of the immune system. This hypothesis has important implications for the understanding and development of effective palliative and even preventative strategies for A-T, and probably for other so far relentlessly progressive neurodegenerative disorders.

  20. Ciliary neurotrophic factor for macular telangiectasia type 2: results from a phase 1 safety trial.

    Science.gov (United States)

    Chew, Emily Y; Clemons, Traci E; Peto, Tunde; Sallo, Ferenc B; Ingerman, Avner; Tao, Weng; Singerman, Lawrence; Schwartz, Steven D; Peachey, Neal S; Bird, Alan C

    2015-04-01

    To evaluate the safety and tolerability of intraocular delivery of ciliary neurotrophic factor (CNTF) using an encapsulated cell implant for the treatment of macular telangiectasia type 2. An open-label safety trial conducted in 2 centers enrolling 7 participants with macular telangiectasia type 2. The participant's more severely affected eye (worse baseline visual acuity) received the high-dose implant of CNTF. Patients were followed for a period of 36 months. The primary safety outcome was a change in the parameters of the electroretinogram (ERG). Secondary efficacy outcomes were changes in visual acuity, en face measurements of the optical coherence tomography of the disruption in the ellipsoid zone, and microperimetry when compared with baseline. The ERG findings demonstrated a reduction in the amplitude of the scotopic b-wave in 4 participants 3 months after implantation (month 3). All parameters returned to baseline values by month 12 and remained so at month 36 with no clinical impact on dark adaptation. There was no change in visual acuity compared with baseline. The area of the defect as measured functionally by microperimetry and structurally by the en face OCT imaging of the ellipsoid zone loss appeared unchanged from baseline. The intraocular delivery of CNTF in the encapsulated cell implant appeared to be safe and well tolerated in eyes with macular telangiectasia type 2. Further evaluation in a randomized controlled clinical trial is warranted to test for efficacy. Published by Elsevier Inc.

  1. Haemorrhage in the labyrinth caused by anticoagulant therapy: case report

    Energy Technology Data Exchange (ETDEWEB)

    Callonnec, F.; Gerardin, E.; Thiebot, J. [Department of Radiology, Rouen University Hospital, 1 rue de Germont, F-76031 Rouen cedex (France); Marie, J.P.; Andrieu Guitrancourt, J. [Department of Otolaryngology, Rouen University Hospital (France); Marsot-Dupuch, K. [Department of Radiology, St. Antoine, Paris University Hospital (France)

    1999-06-01

    We report a patient who experienced a severe vertiginous episode with bilateral tinnitus and progressive right-sided hearing loss. She had Marfan`s disease and was on anticoagulant treatment. The fluid in the labyrinth gave higher signal than cerebrospinal fluid on T1-weighted images, suggesting haemorrhage. The radiological follow-up is discussed. (orig.) With 2 figs., 11 refs.

  2. Subjective hearing impairment after subarachnoid haemorrhage : Prevalence and risk factors

    NARCIS (Netherlands)

    Vos, Erik M.; Greebe, Paut; Visser-Meily, J. M Anne; Rinkel, Gabriel J E; Vergouwen, Mervyn D I

    2017-01-01

    Background Sensorineural hearing impairment is a key symptom in patients with superficial siderosis of the central nervous system, a disease caused by chronic or intermittent haemorrhage into the subarachnoid space. We investigated the prevalence and risk factors of subjective hearing impairment

  3. Síndrome de Ataxia-Telangiectasia

    Directory of Open Access Journals (Sweden)

    Amauri Batista da Silva

    1971-06-01

    Full Text Available A ataxia-telangiectasia, doença de Mme. Louis-Bar, é caracterizada pela associação de ataxia cerebelar progressiva, em geral com início na primeira infância, telangiectasas óculo-cutâneas, movimentos coreoatetósicos, tendência a infecções repetidas do sistema respiratório, retardo estaturo-ponderal, demenciação. São mais ou menos freqüentes os tumores do sistema reticuloendotelial. A doença é geralmente familiar, transmitida por genes recessivos, autossômicos, não ligados ao sexo. A alteração bioquímica mais encontrada consiste na diminuição ou ausência completa da fração A das gamaglobulinas, bem como na perturbação das reações de hipersensibilidade retardada. Os AA. relatam o estudo clínico, biológico e pneumencefalográfico de uma criança de 3 anos de idade, apresentando essa enfermidade desde os 18 meses de vida, sem antecedentes familiares.

  4. [Massive alveolar haemorrhage in Wegener's granulomatosis].

    Science.gov (United States)

    Valero-Roldán, J; Nuñez-Castillo, D; Fernández-Fígares, C; López-Leiva, I

    2014-01-01

    Wegener's granulomatosis is a systemic vasculitis with involvement of primary granulomatous upper and lower respiratory tract, glomerulonephritis and vasculitis of small vessels. The lung disease ranges from asymptomatic pulmonary nodules to pulmonary infiltrates and fulminant alveolar haemorrhage. The prognosis is poor due to kidney and respiratory failure, although the data are changing due to new treatments with glucocorticoids and cyclophosphamide. We report a case with severe lung disease, which after appropriate anamnesis, multiple tests, and optimal sequential action, the patient was diagnosed with Wegener's granulomatosis. This disease has a low incidence in the Emergency Department, where the patient history supported by the appropriate additional provides a diagnostic suspicion. It is important that the Emergency Department has the skills to manage the stability in these patients in order to resolve their symptoms. Copyright © 2013 Sociedad Española de Médicos de Atención Primaria (SEMERGEN). Publicado por Elsevier España. All rights reserved.

  5. Upper Gastro - intestinal Haemorrhage.

    African Journals Online (AJOL)

    7%) and gastric carcinoma (5%). Almost 70% of those with oesophageal varices ... AD Harries. (b) a large haematemesis with clots, although the patient's account may be inaccurate;. (c) frequent melaena stools which are red-black in colour;.

  6. Influence of traditional Chinese medicine constitution type on the susceptibility of hypertensive cases to intracerebral haemorrhage.

    Science.gov (United States)

    Han, Shu-hui; Zheng, Jian-ming; Li, Kang-zeng; Liu, You-rong; Ye, Ming-yan

    2014-12-01

    To explore the influence of Chinese medicine constitution type on the susceptibility of hypertensive patients to intracerebral haemorrhage. Primary hypertensive patients were studied and divided into the hypertension and the hypertensive intracerebral haemorrhage groups, depending on whether or not the patients had intracerebral haemorrhage. The demographic characteristics, physiological characteristics, living habits, biochemical tests, other chronic diseases, Chinese medicine constitution type, etc. were collected and compared between the two groups. The neurological deficit in the hypertensive intracerebral haemorrhage group was also compared among the different constitution types. A total of 304 patients participated in this investigation, including 213 cases in the hypertension group and 91 cases in the hypertensive intracerebral haemorrhage group. The percentages of dampness-heat and qi-depression types in the intracerebral haemorrhage group were greater than those with the same types in the hypertension group (20.9% vs 6.1%, 22.0% vs 8.0%; Ptype were different between genders in both groups. In addition, there were more male cases (14/20) with qi-depression type and more female cases (7/8) with phlegm-dampness type in the hypertensive intracerebral haemorrhage group than those with the same types (3/17 and 9/34, respectively) in the hypertension group (Ptypes had greater levels of blood lipids in the intracerebral haemorrhage group than those with the same types in the hypertension group (Ptype presented with a more severe neurological deficit than those with the other types (Ptype might have an impact on the susceptibility of hypertensive patients to have an intracerebral haemorrhage. The heat-dampness and qi-depression types might lead to greater susceptibility than the other types. In addition, the patient's gender and blood lipids might also influence the susceptibility along with the constitution type.

  7. Hereditary cerebral haemorrhage with amyloidosis, Dutch type (HCHWA-D): clinicopathological studies.

    Science.gov (United States)

    Wattendorff, A R; Frangione, B; Luyendijk, W; Bots, G T

    1995-01-01

    Clinical and neuropathological findings are reported in 63 patients with hereditary cerebral haemorrhage with amyloid angiopathy. Patients had mostly recurrent strokes, and at least 80% of these were haemorrhages. Almost a third of the patients died within a year of their first and only recorded haemorrhage, half of them within two weeks. This angiopathy was restricted to the cerebral and cerebellar cortex and its covering leptomeninges. As the most important consequence, haemorrhagic infarcts and haemorrhages occurred in the subcortical white matter--that is, the region most vulnerable to impaired cortical circulation. Further development of these subcortical lesions gives rise to the fatal haemorrhages seen at necropsy. In so far as dementia occurs this is likely to result from multiple microinfarcts or haemorrhages. In most cases preamyloid lesions or diffuse plaques and early plaques were seen. No other type of plaque or neurofibrillary degeneration was found. The plaques occur in conjunction with the angiopathy, but may not occur even when the angiopathy is severe. In one patient plaques were totally absent. Angiopathy and plaques may be the result of the same mutation, the expression of which is governed by tissue factors or phenotypic differences between individual subjects. Images PMID:7608669

  8. Evaluation and Management of Pulmonary Disease in Ataxia-Telangiectasia

    Science.gov (United States)

    McGrath-Morrow, Sharon A.; Gower, W. Adam; Rothblum-Oviatt, Cynthia; Brody, Alan S.; Langston, Claire; Fan, Leland L.; Lefton-Greif, Maureen A.; Crawford, Thomas O.; Troche, Michelle; Sandlund, John T; Auwaerter, Paul G.; Easley, Blaine; Loughlin, Gerald M.; Carroll, John L.; Lederman, Howard M.

    2014-01-01

    Summary Ataxia-telangiectasia (A-T) is a rare autosomal recessive disorder caused by mutations in the ATM gene, resulting in faulty repair of breakages in double-stranded DNA. The clinical phenotype is complex, and is characterized by neurologic abnormalities, immunodeficiencies, susceptibility to malignancies, recurrent sinopulmonary infections, and cutaneous abnormalities. Lung disease is common in patients with A-T and often progresses with age and neurological decline. Diseases of the respiratory system cause significant morbidity and are a frequent cause of death in the A-T population. Lung disease in this population is thought to exhibit features of one or more of the following phenotypes: recurrent sinopulmonary infections with bronchiectasis, interstitial lung disease, and lung disease associated with neurological abnormalities. Here, we review available evidence and present expert opinion on the diagnosis, evaluation, and management of lung disease in A-T, as discussed in a recent multidisciplinary workshop. Although more data are emerging on this unique population, many recommendations are made based on similarities to other more well-studied diseases. Gaps in current knowledge and areas for future research in the field of pulmonary disease in A-T are also outlined. PMID:20583220

  9. [Ebola haemorrhagic fever.

    DEFF Research Database (Denmark)

    Fabiansen, C.; Kronborg, G.; Thybo, S.

    2008-01-01

    This review presents the latest findings on ebola. Ebola presents one of the highest case-fatality rates of all infectious diseases, and in 2007 outbreaks were observed first in the Democratic Republic of Congo and later in Uganda with a new subtype. Accumulating evidence suggests that fruit bats...... are a likely reservoir for the ebola virus. The frequency of filovirus outbreaks in Central Africa is increasing and the potential for introduction and patient care in Denmark is evaluated Udgivelsesdato: 2008/11/24...

  10. Ebola--haemorrhagic fever

    DEFF Research Database (Denmark)

    Fabiansen, C.; Kronborg, G.; Thybo, S.

    2008-01-01

    This review presents the latest findings on ebola. Ebola presents one of the highest case-fatality rates of all infectious diseases, and in 2007 outbreaks were observed first in the Democratic Republic of Congo and later in Uganda with a new subtype. Accumulating evidence suggests that fruit bats...... are a likely reservoir for the ebola virus. The frequency of filovirus outbreaks in Central Africa is increasing and the potential for introduction and patient care in Denmark is evaluated Udgivelsesdato: 2008/11/24...

  11. Lack of mutations in the P53 gene exons 5 to 8 in ataxia-telangiectasia.

    Science.gov (United States)

    Jonveaux, P; Berger, R

    1993-04-01

    Alterations of the TP53 tumor suppressor gene are present in various human malignancies and in the dominantly inherited Li-Fraumeni syndrome. Recently, a cell cycle checkpoint pathway involving p53 and GADD45 has been identified as defective in ataxia-telangiectasia. Using single strand conformation polymorphism analysis of PCR products, we looked for TP53 mutations in DNA of patients with AT. We did not find any mutation in 6 patients, suggesting that TP53 mutations are not directly involved in the cancer susceptibility observed in AT.

  12. Allelic Dropout in the ENG Gene, Affecting the Results of Genetic Testing in Hereditary Hemorrhagic Telangiectasia

    DEFF Research Database (Denmark)

    Tørring, Pernille M; Kjeldsen, A.D.; Ousager, L.B.

    2012-01-01

    Background: Hereditary hemorrhagic telangiectasia (HHT) is an autosomal-dominant vascular disorder with three disease-causing genes identified to date: ENG, ACVRL1, and SMAD4. We report an HHT patient with allelic dropout that on routine sequence analysis for a known mutation in the family (c.817......-3T>G in ENG) initially seemed to be homozygous for the mutation. Aim: To explore the possibility of allelic dropout causing a false result in this patient. Methods: Mutation analysis of additional family members was performed and haplotype analysis carried out. New primers were designed to reveal...

  13. Surgical Trial in Lobar Intracerebral Haemorrhage (STICH II Protocol

    Directory of Open Access Journals (Sweden)

    Rowan Elise N

    2011-05-01

    Full Text Available Abstract Background Within the spectrum of spontaneous intracerebral haemorrhage there are some patients with large or space occupying haemorrhage who require surgery for neurological deterioration and others with small haematomas who should be managed conservatively. There is equipoise about the management of patients between these two extremes. In particular there is some evidence that patients with lobar haematomas and no intraventricular haemorrhage might benefit from haematoma evacuation. The STICH II study will establish whether a policy of earlier surgical evacuation of the haematoma in selected patients will improve outcome compared to a policy of initial conservative treatment. Methods/Design an international multicentre randomised parallel group trial. Only patients for whom the treating neurosurgeon is in equipoise about the benefits of early craniotomy compared to initial conservative treatment are eligible. All patients must have a CT scan confirming spontaneous lobar intracerebral haemorrhage (≤1 cm from the cortex surface of the brain and 10-100 ml in volume. Any clotting or coagulation problems must be corrected and randomisation must take place within 48 hours of ictus. With 600 patients, the study will be able to demonstrate a 12% benefit from surgery (2p Stratified randomisation is undertaken using a central 24 hour randomisation service accessed by telephone or web. Patients randomised to early surgery should have the operation within 12 hours. Information about the status (Glasgow Coma Score and focal signs of all patients through the first five days of their trial progress is also collected in addition to another CT scan at about five days (+/- 2 days. Outcome is measured at six months via a postal questionnaire to the patient. Primary outcome is death or severe disability defined using a prognosis based 8 point Glasgow Outcome Scale. Secondary outcomes include: Mortality, Rankin, Barthel, EuroQol, and Survival. Trial

  14. Haemorrhage and intestinal lymphoma

    Directory of Open Access Journals (Sweden)

    Attilia M. Pizzini

    2013-04-01

    Full Text Available Background: The prevalence of coeliac disease is around 1% in general population but this is often unrecognised. The classical presentation of adult coeliac disease is characterized by diarrhoea and malabsorption syndrome, but atypical presentations are probably more common and are characterized by iron deficiency anaemia, weight loss, fatigue, infertility, arthralgia, peripheral neuropathy and osteoporosis. Unusual are the coagulation disorders (prevalence 20% and these are due to vitamin K malabsorption (prolonged prothrombin time. Clinical case: A 64-year-old man was admitted to our Department for an extensive spontaneous haematoma of the right leg. He had a history of a small bowel resection for T-cell lymphoma, with a negative follow-up and he didn’t report any personal or familiar history of bleeding. Laboratory tests showed markedly prolonged prothrombin (PT and partial-thromboplastin time (PTT, corrected by mixing studies, and whereas platelet count and liver tests was normal. A single dose (10 mg of intravenous vitamin K normalized the PT. Several days before the patient had been exposed to a superwarfarin pesticide, but diagnostic tests for brodifacoum, bromadiolone or difenacoum were negative. Diagnosis of multiple vitamin K-dependent coagulationfactor deficiencies (II, VII, IX, X due to intestinal malabsorption was made and coeliac disease was detected. Therefore the previous lymphoma diagnosis might be closely related to coeliac disease. Conclusions: A gluten free diet improves quality of life and restores normal nutritional and biochemical status and protects against these complications.

  15. Xanthochromia after subarachnoid haemorrhage needs no revisitation.

    Science.gov (United States)

    Vermeulen, M; Hasan, D; Blijenberg, B G; Hijdra, A; van Gijn, J

    1989-01-01

    Recently it was contended that it is bloodstained cerebrospinal fluid (CSF) that is important in the diagnosis of subarachnoid haemorrhage (SAH) and not xanthochromia, and also that a normal CT scan and the absence of xanthochromia in the CSF do not exclude a ruptured intracranial aneurysm. The CSF findings were therefore reviewed of 111 patients with a proven SAH. All patients had xanthochromia of the CSF. Lumbar punctures were performed between 12 hours and one week after the ictus. Xanthochromia was still present in all (41) patients after 1 week, in all (32) patients after 2 weeks, in 20 of 22 patients after three weeks and in 10 of 14 patients after four weeks. In six years we identified only 12 patients with sudden headache, normal CT, bloodstained CSF, and no xanthochromia. Angiography was carried out in three and was negative. All 12 patients survived without disability and were not re-admitted with a SAH (mean follow up 4 years). It is concluded that it is still xanthochromia that is important in the diagnosis of SAH and not bloodstained CSF. Furthermore a normal CT scan and the absence of xanthochromia do exclude a ruptured aneurysm, provided xanthochromia is investigated by spectrophotometry and lumbar puncture is carried out between 12 hours and 2 weeks after the ictus. PMID:2769274

  16. Filoviral haemorrhagic fevers: A threat to Zambia?

    Directory of Open Access Journals (Sweden)

    Katendi Changula

    2012-06-01

    Full Text Available Filoviral haemorrhagic fevers (FVHF are caused by agents belonging to Filoviridae family, Ebola and Marburg viruses. They are amongst the most lethal pathogens known to infect humans. Incidence of FVHF outbreaks are increasing, with affected number of patients on the rise. Whilst there has been no report yet of FVHF in Zambia, its proximity to Angola and Democratic Republic of Congo, which have recorded major outbreaks, as well as the open borders, increased trade and annual migration of bats between these countries, puts Zambia at present and increased risk. Previous studies have indicated bats as potential reservoir hosts for filoviruses. An increasing population with an increasing demand for resources has forced incursion into previously uninhabited land, potentially bringing them into contact with unknown pathogens, reservoir hosts and/or amplifying hosts. The recent discovery of a novel arenavirus, Lujo, highlights the potential that every region, including Zambia, has for being the epicentre or primary focus for emerging and re-emerging infections. It is therefore imperative that surveillance for potential emerging infections, such as viral haemorrhagic fevers be instituted. In order to accomplish this surveillance, rapid detection, identification and monitoring of agents in patients and potential reservoirs is needed. International co-operation is the strategy of choice for the surveillance and fight against emerging infections. Due to the extensive area in which filoviral infections can occur, a regional approach to surveillance activities is required, with regional referral centres. There is a need to adopt shared policies for the prevention and control of infectious diseases. There is also need for optimisation of currently available tests and development of new diagnostic tests, in order to have robust, highly sensitive and specific diagnostic tests that can be used even where there are inadequate laboratories and diagnostic services.

  17. Inmunodeficiencia con ataxia telangiectasia: presentación de 4 casos

    Directory of Open Access Journals (Sweden)

    Ma. Victoria Guntiñas Zamora

    2004-03-01

    Full Text Available Se presentan 4 pacientes con síntomas y signos propios de una inmunodeficiencia con ataxia telangiectasia, tanto desde el punto de vista clínico como de los marcadores serológicos y celulares. En todos los casos la ataxia se evidenció cuando los pacientes comenzaron a caminar, las telangiectasias tuvieron una aparición más tardía y las infecciones fueron manifiestas desde edades muy tempranas. Los defectos inmunológicos fueron heterogéneos, tanto de células B como T. Todos los pacientes se encuentran actualmente bajo tratamiento inmunoestimulante a pesar de lo cual mantienen cuadros infecciosos frecuentes. La enfermedad neurológica progresa. Se recomienda el seguimiento estrecho de los casos por la posible aparición de complicaciones graves como enfermedad pulmonar crónica o neoplasias linforreticulares4 patients with symptoms and signs typical of an immunodeficiency with ataxia telangiectasia from the clinical point of view and from the point of view of the serological and cellular markers are presented. In all the cases, ataxia was confirmed when the patients began to walk. Telangiectasies had a later appearance and the infections manifested at very early ages. The immunological defects of B and T cells were heterogeneous. The patients maintain infectious pictures despite being under immunostimulating treatment. The neurological disease is in progress. It is recommended the close follow-up of the cases due to the possible emergence of severe complications, such as chronic pulmonary disease or lymphoreticular neoplasias.

  18. Ultrasonically detectable cerebellar haemorrhage in preterm infants.

    LENUS (Irish Health Repository)

    McCarthy, Lisa Kenyon

    2011-07-01

    To determine the frequency and pattern of cerebellar haemorrhage (CBH) on routine cranial ultrasound (cUS) imaging in infants of ≤32 weeks gestation, and to investigate how extremely preterm infants with CBH differ from those with severe intraventricular haemorrhage (IVH).

  19. Magnesium in subarachnoid haemorrhage: proven beneficial?

    NARCIS (Netherlands)

    van den Bergh, Walter M.

    2009-01-01

    Subarachnoid haemorrhage (SAH) caused by a ruptured aneurysm accounts for only 5% of strokes, but occurs at a fairly young age and carries a worse prognosis. Delayed cerebral ischaemia (DCI) is an important cause of death and dependence after aneurysmal subarachnoid haemorrhage. The current mainstay

  20. Secondary postpartum haemorrhage with uterine artery ...

    African Journals Online (AJOL)

    Uterine artery pseudoaneurysm (PA) is a rare but serious complication of caesarean section (C/S). If inadequately treated, it can lead to life-threatening postpartum haemorrhage. We report the case of a 28-year-old woman who developed secondary postpartum haemorrhage resulting from uterine artery PA after C/S.

  1. Linear growth and endocrine function in children with ataxia telangiectasia

    Directory of Open Access Journals (Sweden)

    Mohammad Ehlayel

    2014-01-01

    Full Text Available Introduction: Ataxia telangiectasia (AT is a rare, genetic, primary immune deficiency disease characterized by immunodeficiency and neurological manifestations, with an increased tendency to infection, malignancy, and autoimmune diseases. Both growth delay and endocrine abnormalities are occasionally reported in these patients. Patients and Methods: We studied growth parameters height (Ht, weight, body mass index (BMI and calculated the Ht standard deviation scores (HtSDS of 13 patients (age 7.7 ± 3.5 years-age range: 3-14.5 years with AT in relation to their mid-parental Ht SDS (MPHtSDS. We measured their serum calcium (Ca, phosphorus (PO4, alkaline phosphatase, alanine transferase (ALT, serum ferritin, creatinine and albumin concentrations. Endocrine investigations included the assessment of serum free thyroxine (FT4, thyrotropin (TSH, insulin-like growth factor-I (IGF-I and morning cortisol. Complete blood count and serum immunoglobulins (IgG, IgM and IgA antibodies were also measured. Growth data were correlated to hormonal and immune data. Results: About 31% of patients with AT had short stature (HtSDS <−2. However, their MPHtSDS denoted that their short stature was familial because four out of 13 had MPHtSDS <−2. They had low BMI, and two of them had low serum albumin and IGF-I, denoting malnutrition or disturbed growth hormone secretion. Elevated serum ALT and ferritin in some patients suggest immune-related inflammation in the liver. 30% of patients had high TSH, two of them had low FT4 diagnosing overt (15% and sub-clinical (15% hypothyroidism. Anti-thyroid peroxidase antibodies were high in two out of 13 patients denoting immune-related thyroid aggression. Eight out of 13 patients had Vitamin D deficiency (<20 ng/ml however, their serum Ca and PO 4 levels were in the normal range. One adolescent girl (14.5 years had hyper-gonadotropic hypogonadism (low estradiol and high follicle stimulating hormone. All patients had normal 8 AM

  2. Intrinsic mitochondrial DNA repair defects in Ataxia Telangiectasia.

    Science.gov (United States)

    Sharma, Nilesh K; Lebedeva, Maria; Thomas, Terace; Kovalenko, Olga A; Stumpf, Jeffrey D; Shadel, Gerald S; Santos, Janine H

    2014-01-01

    Ataxia Telangiectasia (A-T) is a progressive childhood disorder characterized most notably by cerebellar degeneration and predisposition to cancer. A-T is caused by mutations in the kinase ATM, a master regulator of the DNA double-strand break response. In addition to DNA-damage signaling defects, A-T cells display mitochondrial dysfunction that is thought to contribute to A-T pathogenesis. However, the molecular mechanism leading to mitochondrial dysfunction in A-T remains unclear. Here, we show that lack of ATM leads to reduced mitochondrial DNA (mtDNA) integrity and mitochondrial dysfunction, which are associated to defective mtDNA repair. While protein levels of mtDNA repair proteins are essentially normal, in the absence of ATM levels specifically of DNA ligase III (Lig3), the only DNA ligase working in mitochondria is reduced. The reduction of Lig3 is observed in different A-T patient cells, in brain and pre-B cells derived from ATM knockout mice as well as upon transient or stable knockdown of ATM. Furthermore, pharmacological inhibition of Lig3 in wild type cells phenocopies the mtDNA repair defects observed in A-T patient cells. As targeted deletion of LIG3 in the central nervous system causes debilitating ataxia in mice, reduced Lig3 protein levels and the consequent mtDNA repair defect may contribute to A-T neurodegeneration. A-T is thus the first disease characterized by diminished Lig3. Published by Elsevier B.V.

  3. Automatic detection of surgical haemorrhage using computer vision.

    Science.gov (United States)

    Garcia-Martinez, Alvaro; Vicente-Samper, Jose María; Sabater-Navarro, José María

    2017-05-01

    On occasions, a surgical intervention can be associated with serious, potentially life-threatening complications. One of these complications is a haemorrhage during the operation, an unsolved issue that could delay the intervention or even cause the patient's death. On laparoscopic surgery this complication is even more dangerous, due to the limited vision and mobility imposed by the minimally invasive techniques. In this paper it is described a computer vision algorithm designed to analyse the images captured by a laparoscopic camera, classifying the pixels of each frame in blood pixels and background pixels and finally detecting a massive haemorrhage. The pixel classification is carried out by comparing the parameter B/R and G/R of the RGB space colour of each pixel with a threshold obtained using the global average of the whole frame of these parameters. The detection of and starting haemorrhage is achieved by analysing the variation of the previous parameters and the amount of pixel blood classified. When classifying in vitro images, the proposed algorithm obtains accuracy over 96%, but during the analysis of an in vivo images obtained from real operations, the results worsen slightly due to poor illumination, visual interferences or sudden moves of the camera, obtaining accuracy over 88%. The detection of haemorrhages directly depends of the correct classification of blood pixels, so the analysis achieves an accuracy of 78%. The proposed algorithm turns out to be a good starting point for an automatic detection of blood and bleeding in the surgical environment which can be applied to enhance the surgeon vision, for example showing the last frame previous to a massive haemorrhage where the incision could be seen using augmented reality capabilities. Copyright © 2017 Elsevier B.V. All rights reserved.

  4. Growth and nutrition in children with ataxia telangiectasia.

    Science.gov (United States)

    Stewart, Emma; Prayle, Andrew P; Tooke, Alison; Pasalodos, Sara; Suri, Mohnish; Bush, Andy; Bhatt, Jayesh M

    2016-12-01

    Ataxia telangiectasia (A-T) is a rare multisystem disease with high early mortality from lung disease and cancer. Nutritional failure adversely impacts outcomes in many respiratory diseases. Several factors influence nutrition in children with A-T. We hypothesised that children with A-T have progressive growth failure and that early gastrostomy tube feeding (percutaneous endoscopic gastrostomy, PEG) is a favourable management option with good nutritional outcomes. Data were collected prospectively on weight, height and body mass index (BMI) at the national paediatric A-T clinic. Adequacy and safety of oral intake was assessed. Nutritional advice was given at each multidisciplinary review. 101 children (51 girls) had 222 measurements (32 once, 32 twice, 24 thrice) between 2009 and 2016. Median (IQR) age was 9.3 (6.4 to 13.1) years. Mean (SD) weight, height and BMI Z-scores were respectively -1 (1.6), -1.2 (1.2) and -0.4 (1.4). 35/101 children had weight Z-scores below -2 on at least one occasion. Weight, height and BMI Z-scores declined over time. Decline was most obvious after 8 years of age. 14/101 (14%) children had a PEG, with longitudinal data available for 12. In a nested case control study, there was a trend for improvement in weight in those with a PEG (p=0.10). Patients with A-T decline in growth over time. There is an urgent need for new strategies, including an understanding of why growth falters. We suggest early proactive consideration of PEG from age 8 years onwards to prevent progressive growth failure. 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/.

  5. MACULAR TELANGIECTASIA TYPE 2: Quantitative Analysis of a Novel Phenotype and Implications for the Pathobiology of the Disease.

    Science.gov (United States)

    Okada, Mali; Egan, Catherine A; Heeren, Tjebo F C; Tufail, Adnan; Fruttiger, Marcus; Maloca, Peter M

    2018-01-01

    To investigate retinal microcystoid spaces in macular telangiectasia type 2 with spectral domain optical coherence tomography. Retrospective review of 135 patients enrolled in the MacTel Natural History Observation and Registry Study at Moorfields Eye Hospital, United Kingdom. One hundred seventy-two eyes from 86 patients who had a comparable scan protocol of at least 30 μm interval were included for analysis. Retinal microcystoid spaces were identified and segmented and metrics analyzed. From 172 eyes of 86 patients, microcystoid spaces were found in 11 eyes (6.4%) from 8 patients (9.3%). The mean number of microcystoid spaces per eye was 12.9 ± 18.2. Most were located in the inner nuclear layer. The inferonasal quadrant of the macula was the least commonly affected region. Microcystoid spaces were distributed entirely within the assumed macular telangiectasia area on blue light reflectance in all but 2 eyes (4 of 142 microcysts). The median diameter of the microcystoid spaces was 31 μm (range 15 μm-80 μm). Microcystoid spaces as a phenotype of macular telangiectasia should be considered in the differentials for microcystic edema. Understanding the pathogenesis of these lesions may provide further insight into the role of Müller cell dysfunction in this disorder.

  6. Development of vaccines against Crimean-Congo haemorrhagic fever virus

    OpenAIRE

    Dowall, Stuart D.; Carroll, Miles W.; Hewson, Roger

    2017-01-01

    Crimean-Congo haemorrhagic fever virus (CCHFV) is a deadly human pathogen of the utmost seriousness being highly lethal causing devastating disease symptoms that result in intense and prolonged suffering to those infected. During the past 40 years, this virus has repeatedly caused sporadic outbreaks responsible for relatively low numbers of human casualties, but with an alarming fatality rate of up to 80% in clinically infected patients. CCHFV is transmitted to humans by Hyalomma ticks and co...

  7. Acute neck pain, an atypical presentation of subarachnoid haemorrhage

    OpenAIRE

    Ahmed, Julian; Blakeley, Chris; Sakar, Ramy; Aktar, Khalida; Hashemi, Kambiz

    2007-01-01

    Subarachnoid haemorrhage can be a massively debilitating condition with long‐term repercussions. The “classic” presentation of sudden‐onset severe headache normally raises suspicions. However, if the presentation is atypical, the diagnosis may be missed. We report on a 52‐year‐old man who presented with a 1‐day history of progressively worsening right‐sided neck pain spreading to the chest with associated symptoms of autonomic dysfunction. After initial stabilisation, the patient's Glasgow Co...

  8. Considerable delay in diagnosis and acute management of subarachnoid haemorrhage

    DEFF Research Database (Denmark)

    Larsen, Carl Christian; Eskesen, Vagn; Hauerberg, John

    2010-01-01

    Rebleeding from subarachnoid haemorrhage (SAH) usually occurs within the first six hours after the initial bleeding. Rebleeding can be prevented effectively with tranexamic acid (TXA). Although a broad consensus has evolved that SAH should be treated as an emergency, it is likely that delays do e...... exist in the diagnosis and treatment of SAH patients. The aim of this study was to prospectively assess the interval between symptom onset, emergency room (ER) admission, initial diagnosis and treatment, and final closure of the aneurysm....

  9. Blood products and their use in traumatic major haemorrhage.

    Science.gov (United States)

    Deveau, Simon Ross

    2016-02-01

    Blood loss due to trauma is a leading cause of death in young people and is the result of the 'lethal triad' of hypothermia, acidosis and coagulopathy, which collectively reduce haemostasis. Emergency department nurses can help to reverse the triad through the timely and efficient use of blood products and fluids. This article briefly examines different blood groups, describes the elements of the lethal triad, and discusses the blood products used to transfuse patients with major haemorrhage.

  10. Management of postpartum haemorrhage [version 1; referees: 2 approved

    Directory of Open Access Journals (Sweden)

    Marie Pierre Bonnet

    2016-06-01

    Full Text Available Postpartum Haemorrhage (PPH is a major cause of maternal morbidity and mortality. Treatment of acquired coagulopathy observed in severe PPH is an important part of PPH management, but is mainly based on literature in trauma patients, and data thus should be interpreted with caution. This review describes recent advances in transfusion strategy and in the use of tranexamic acid and fibrinogen concentrates in women with PPH.

  11. Ondine's curse with accompanying trigeminal and glossopharyngeal neuralgia secondary to medullary telangiectasia.

    Science.gov (United States)

    Kapnadak, Siddhartha G; Mikolaenko, Ivan; Enfield, Kyle; Gress, Daryl R; Nathan, Barnett R

    2010-06-01

    Central hypoventilation syndrome ("Ondine's Curse") is an infrequent disorder that can lead to serious acute or chronic health consequences. This syndrome, especially in adults, is rare, and even less frequent in the absence of clear pathogenic lesions on MRI. In addition, we are not aware of any previously reported cases with associated cranial nerve neuralgias. We describe a patient with baseline trigeminal and glossopharyngeal neuralgia, admitted with episodes of severe hypoventilatory failure of central origin, consistent with "Ondine's Curse". After evaluation, she was found to have a medullary capillary telangiectasia, thought to be the causative lesion, and which could explain her complete neurologic and hypoventilatory syndrome. The patient was treated with placement of a diaphragmatic pacing system, which has been effective thus far. This case illustrates the need for investigation of centrally mediated apnea, especially when co-occurring cranial nerve neuralgia is present and cardiopulmonary evaluation is negative. It provides an example of capillary telangiectasia as the causative lesion, one that to our knowledge has not been reported before. Placement of a diaphragmatic pacing system was warranted and became lifesaving as the patient was deemed to be severely incapacitated by chronic ventilatory insufficiency.

  12. Characteristic Eye Movements in Ataxia-Telangiectasia-Like Disorder: An Explanatory Hypothesis

    Directory of Open Access Journals (Sweden)

    Pamela Federighi

    2017-11-01

    Full Text Available ObjectiveTo investigate cerebellar dysfunctions and quantitatively characterize specific oculomotor changes in ataxia-telangiectasia-like disorder (ATLD, a rare autosomal recessive disease caused by mutations in the MRE11 gene. Additionally, to further elucidate the pathophysiology of cerebellar damage in the ataxia-telangiectasia (AT spectrum disorders.MethodsSaccade dynamics, metrics, and visual fixation deficits were investigated in two Italian adult siblings with genetically confirmed ATLD. Visually guided saccades were compared with those of 40 healthy subjects. Steady fixation was tested in primary and eccentric positions. Quantitative characterization of saccade parameters, saccadic intrusions (SI, and nystagmus was performed.ResultsPatients showed abnormally hypermetric and fast horizontal saccades to the left and greater inaccuracy than healthy subjects in all saccadic eye movements. Eye movement abnormalities included slow eye movements that preceded the initial saccade. Horizontal and vertical spontaneous jerk nystagmus, gaze-evoked, and rebound nystagmus were evident. Fixation was interrupted by large square-wave jerk SI and macrosaccadic oscillations.ConclusionSlow eye movements accompanying saccades, SI, and cerebellar nystagmus are frequently seen in AT patients, additionally our ATLD patients showed the presence of fast and hypermetric saccades suggesting damage of granule cell-parallel fiber-Purkinje cell synapses of the cerebellar vermis. A dual pathogenetic mechanism involving neurodevelopmental and neurodegenerative changes is hypothesized to explain the peculiar phenotype of this disease.

  13. Prognostic significance of delayed intraventricular haemorrhage in the INTERACT studies.

    Science.gov (United States)

    Moullaali, Tom J; Sato, Shoichiro; Wang, Xia; Rabinstein, Alejandro A; Arima, Hisatomi; Carcel, Cheryl; Chen, Guofang; Robinson, Thompson; Heeley, Emma; Chan, Edward; Delcourt, Candice; Stapf, Christian; Cordonnier, Charlotte; Lindley, Richard I; Chalmers, John; Anderson, Craig S

    2017-01-01

    Intraventricular extension of intracerebral haemorrhage (ICH) predicts poor outcome, but the significance of delayed intraventricular haemorrhage (dIVH) is less well defined. We determined the prognostic significance of dIVH in the Intensive Blood Pressure Reduction in Acute Cerebral Haemorrhage Trials (INTERACT 1 and 2). Pooled analyses of the INTERACT CT substudies-international, multicentre, prospective, open, blinded end point, randomised controlled trials of patients with acute spontaneous ICH and elevated systolic blood pressure (SBP)-randomly assigned to intensive (<140 mm Hg) or guideline-based (<180 mm Hg) SBP management. Participants had blinded central analyses of baseline and 24 h CTs, with dIVH defined as new intraventricular haemorrhage (IVH) on the latter scan. Outcomes of death and major disability were defined by modified Rankin Scale scores at 90 days. There were 349 (27%) of 1310 patients with baseline IVH, and 107 (11%) of 961 initially IVH-free patients who developed dIVH. Significant associations of dIVH were prior warfarin anticoagulation, high (≥15) baseline National Institutes of Health Stroke Scale score, larger (≥15 mL) ICH volume, greater ICH growth and higher achieved SBP over 24 h. Compared with those who were IVH-free, dIVH had greater odds of 90-day death or major disability versus initial IVH (adjusted ORs 2.84 (95% CI 1.52 to 5.28) and 1.87 (1.36 to 2.56), respectively (p trend <0.0001)). Although linked to factors determining greater ICH growth including poor SBP control, dIVH is independently associated with poor outcome in acute small to moderate-size ICH. NCT00226096 and NCT00716079. 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/.

  14. A novel porcine model of ataxia telangiectasia reproduces neurological features and motor deficits of human disease.

    Science.gov (United States)

    Beraldi, Rosanna; Chan, Chun-Hung; Rogers, Christopher S; Kovács, Attila D; Meyerholz, David K; Trantzas, Constantin; Lambertz, Allyn M; Darbro, Benjamin W; Weber, Krystal L; White, Katherine A M; Rheeden, Richard V; Kruer, Michael C; Dacken, Brian A; Wang, Xiao-Jun; Davis, Bryan T; Rohret, Judy A; Struzynski, Jason T; Rohret, Frank A; Weimer, Jill M; Pearce, David A

    2015-11-15

    Ataxia telangiectasia (AT) is a progressive multisystem disorder caused by mutations in the AT-mutated (ATM) gene. AT is a neurodegenerative disease primarily characterized by cerebellar degeneration in children leading to motor impairment. The disease progresses with other clinical manifestations including oculocutaneous telangiectasia, immune disorders, increased susceptibly to cancer and respiratory infections. Although genetic investigations and physiological models have established the linkage of ATM with AT onset, the mechanisms linking ATM to neurodegeneration remain undetermined, hindering therapeutic development. Several murine models of AT have been successfully generated showing some of the clinical manifestations of the disease, however they do not fully recapitulate the hallmark neurological phenotype, thus highlighting the need for a more suitable animal model. We engineered a novel porcine model of AT to better phenocopy the disease and bridge the gap between human and current animal models. The initial characterization of AT pigs revealed early cerebellar lesions including loss of Purkinje cells (PCs) and altered cytoarchitecture suggesting a developmental etiology for AT and could advocate for early therapies for AT patients. In addition, similar to patients, AT pigs show growth retardation and develop motor deficit phenotypes. By using the porcine system to model human AT, we established the first animal model showing PC loss and motor features of the human disease. The novel AT pig provides new opportunities to unmask functions and roles of ATM in AT disease and in physiological conditions. © The Author 2015. Published by Oxford University Press. All rights reserved. For Permissions, please email: journals.permissions@oup.com.

  15. A haplotype common to intermediate radiosensitivity variants of ataxia-telangiectasia in the UK

    Energy Technology Data Exchange (ETDEWEB)

    Taylor, A.M.R.; McConville, C.M.; Byrd, P.J. [Birmingham Univ. (United Kingdom). Medical School; Rotman, G.; Shiloh, Y. [Tel Aviv Univ. (Israel). Sackler School of Medicine

    1994-12-01

    In a study of ataxia-telangiectasia (A-T) in the UK, patients in10 out of 60 families were shown to have a much lower level of chromosomal radiosensitivity compared with the majority of patients. In some patients the level of radiosensitivity was hardly distinguishable from normal. Patients in this group, however, could be distinguished clinically from the majority either by the later onset of severe cerebellar features or the slower rate of progress of the disorder. By using highly polymorphic microsatellite repeat markers a chromosome 11q22-23 haplotype common to the majority of these patients, and not occurring in any non-A-T chromosome in 60 families, was identified on one chromosome. The haplotype probably defines the region of the A-T gene in these families and the mutation associated with this haplotype may be much less severe than the second mutation thereby producing the slightly milder phenotype. (author).

  16. Balantidium coli-induced pulmonary haemorrhage with iron deficiency.

    Science.gov (United States)

    Koopowitz, A; Smith, P; van Rensburg, N; Rudman, A

    2010-07-26

    Balantidium coli, a ciliated protozoan parasite that infects primates and pigs, and is the largest protozoan to infect humans, is a well-known cause of diarrhoea and dysentery in humans. Extra-intestinal disease is uncommon, however. We describe a case of lung involvement, with severe pulmonary haemorrhage resulting in iron deficiency anaemia and respiratory failure, of a 20-year-old, immune-competent man. Diagnosis was made by bronchial biopsy and lavage, which showed numerous trophozoites compatible with B. coli with a background of acute inflammatory cells. The origin of infection was not clear, but inhalation of pig manure was postulated as there was no history of intestinal disease. The patient was treated with oxytetracyline and metronidazole, kept in an ICU, improved within 48 hours, and was discharged within 4 days. B. coli infection should be considered as part of the differential diagnosis of pulmonary haemorrhage.

  17. Clinical management guidelines for subarachnoid haemorrhage. Diagnosis and treatment.

    Science.gov (United States)

    Vivancos, J; Gilo, F; Frutos, R; Maestre, J; García-Pastor, A; Quintana, F; Roda, J M; Ximénez-Carrillo, A; Díez Tejedor, E; Fuentes, B; Alonso de Leciñana, M; Alvarez-Sabin, J; Arenillas, J; Calleja, S; Casado, I; Castellanos, M; Castillo, J; Dávalos, A; Díaz-Otero, F; Egido, J A; Fernández, J C; Freijo, M; Gállego, J; Gil-Núñez, A; Irimia, P; Lago, A; Masjuan, J; Martí-Fábregas, J; Martínez-Sánchez, P; Martínez-Vila, E; Molina, C; Morales, A; Nombela, F; Purroy, F; Ribó, M; Rodríguez-Yañez, M; Roquer, J; Rubio, F; Segura, T; Serena, J; Simal, P; Tejada, J

    2014-01-01

    To update the Spanish Society of Neurology's guidelines for subarachnoid haemorrhage diagnosis and treatment. A review and analysis of the existing literature. Recommendations are given based on the level of evidence for each study reviewed. The most common cause of spontaneous subarachnoid haemorrhage (SAH) is cerebral aneurysm rupture. Its estimated incidence in Spain is 9/100 000 inhabitants/year with a relative frequency of approximately 5% of all strokes. Hypertension and smoking are the main risk factors. Stroke patients require treatment in a specialised centre. Admission to a stroke unit should be considered for SAH patients whose initial clinical condition is good (Grades I or II on the Hunt and Hess scale). We recommend early exclusion of aneurysms from the circulation. The diagnostic study of choice for SAH is brain CT (computed tomography) without contrast. If the test is negative and SAH is still suspected, a lumbar puncture should then be performed. The diagnostic tests recommended in order to determine the source of the haemorrhage are MRI (magnetic resonance imaging) and angiography. Doppler ultrasonography studies are very useful for diagnosing and monitoring vasospasm. Nimodipine is recommended for preventing delayed cerebral ischaemia. Blood pressure treatment and neurovascular intervention may be considered in treating refractory vasospasm. SAH is a severe and complex disease which must be managed in specialised centres by professionals with ample experience in relevant diagnostic and therapeutic processes. Copyright © 2012 Sociedad Española de Neurología. Published by Elsevier Espana. All rights reserved.

  18. Aetiology and treatment of severe postpartum haemorrhage

    DEFF Research Database (Denmark)

    Edwards, Hellen

    2017-01-01

    This thesis is comprised of three studies focusing on severe postpartum haemorrhage (PPH). PPH is a major cause of maternal morbidity and mortality worldwide. Risk factors include retained placenta, prolonged duration of the third stage of labour, previous caesarean section, and operative vaginal...... delivery. Occurrence and development of PPH are, however, unpredictable and can sometimes give rise to massive haemorrhage or even hysterectomy and maternal death. Severe haemorrhage can lead to coagulopathy causing further haemorrhage and requiring substitution with blood transfusions. The aim...... transfusion at 6 weeks postpartum. A total of 249 women were randomised to either 2 grams of fibrinogen or placebo. The mean concentration of fibrinogen increased significantly in the intervention group compared to the placebo group (0.40 g/L, confidence interval: 0.15-0.65), but there was no difference...

  19. Imaging study of lymphoreticular tumor development in ataxia-telangiectasia and Nijmegen breakage syndrome; Estudio por imagen del desarrollo de tumores linforreticulares en la ataxia telangiectasia y el sindrome de Nijmegen

    Energy Technology Data Exchange (ETDEWEB)

    Martinez-Leon, M. I.; Ceres-Ruiz, L.; Cuesta, M. A.; Garcia-Martin, F. J. [Hospital Materno-Infantil C.H.U. Carlos Haya. Malaga (Spain)

    2003-07-01

    Ataxia-telangiectasia (AT), or Louis-Bar syndrome, is an autosomal recessive illness characterized by progressive cerebellar ataxia, oculo-cutaneous telangiectasia, immunodeficiency combined with susceptibility to sinopulmonary infections and high incidence of neoplastic development. Nijmegen breakage syndrome (NBS) is a variant of AT, is also an autosomal recessive illness that presents cerebellar ataxia, as well as combined immunodeficiency and a tendency toward tumor development. Contrary to Louis-Bar syndrome, it doesn't present telangiectasia and exhibits a characteristics phenotype (short stature, bird-like face and microcephaly). Both entities are classified as syndrome of chromosomal instability or chromosomal fragility, a group which also includes Bloom syndrome and Fanconi anemia. All of these show an increase in the frequency of neoplastic pathologies, mainly lymphoid tumors. We present three patients,two with AT and one with NBS, who developed different lymphoma types in the course of the illness. We highlight the most outstanding aspects from a clinical-radiological point of view. (Author) 17 refs.

  20. Pediatric retinal detachment in cutis aplasia and cutis marmorata telangiectasia.

    Science.gov (United States)

    Lagan, Maeve; Brennan, Rosie; McLoone, Eibhlin

    2012-01-01

    This is a report of 2 cases of cutis aplasia and cutis marmorata telangiectasia with associated retinal detachment. Retrospective case report. Illustration of ophthalmic associations of the rare congenital dermatologic presentations and description of successful treatment with laser photocoagulation. Awareness of the association between retinal detachment and cutis aplasia and cutis marmorata should be acted upon as laser photocoagulation has been shown in this case report to successfully treat the associated retinal detachment.

  1. Hereditary hemorrhagic telangiectasia with bilateral pulmonary vascular malformations: A case report

    Directory of Open Access Journals (Sweden)

    Lončarević Olivera

    2016-01-01

    Full Text Available Introduction. Hereditary hemorrhagic telangiectasia (HHT also known as Osler-Weber-Rendu syndrome is an autosomal dominant disease that occurs due to vascular dysplasia associated with the disorder in the signaling pathway of transforming growth factor β (TGF-β. The clinical consequence is a disorder of blood vessels in multiple organ systems with the existence of telangiectasia which causes dilation of capillaries and veins, are present from birth and are localized on the skin and mucosa of the mouth, respiratory, gastrointestinal and urinary tract. They can make a rupture with consequent serious bleeding that can end up with fatal outcome. Since there is a disruption of blood vessels of more than one organic system, the diagnosis is very complex and requires a multidisciplinary approach. Case report. We reported a 40-year-old female patient with a long-time evolution of problems, who was diagnosed and treated at the Clinic for Lung Diseases of the Military Medical Academy in Belgrade, Serbia, because of bilaterally pulmonary arteriovenous malformations associated with HHT. Embolization was performed in two acts, followed with normalization of clinical, radiological and functional findings with the cessation of hemoptysis, effort intolerance with a significant improvement of the quality of life. Conclusion. HHT is a rare dominant inherited multisystem disease that requires multidisciplinary approach to diagnosis and treatment. Embolization is the method of choice in the treatment of arteriovenous malformations with minor adverse effects and very satisfying therapeutic effect.

  2. Ciliary Neurotrophic Factor (CNTF) for Macular Telangiectasia Type 2 (MacTel): Results from a phase I safety trial

    Science.gov (United States)

    Chew, Emily Y.; Clemons, Traci E.; Peto, Tunde; Sallo, Ferenc B.; Ingerman, Avner; Tao, Weng; Singerman, Lawrence; Schwartz, Steven D.; Peachey, Neal S.; Bird, Alan C.

    2015-01-01

    PURPOSE To evaluate the safety and tolerability of intraocular delivery of ciliary neurotrophic factor (CNTF) using an encapsulated cell implant for the treatment of macular telangiectasia type 2. DESIGN An open-labeled safety trial conducted in 2 centers enrolling 7 participants with macular telangiectasia type 2. METHODS The participant’s more severely affected eye (worse baseline visual acuity) received the high dose implant of CNTF. Patients were followed for a period of 36 months. The primary safety outcome was a change in the parameters of the electroretinogram (ERG). Secondary efficacy outcomes were changes in visual acuity, en face measurements of the optical coherence tomography of the disruption in the ellipsoid zone, and microperimetry when compared with baseline. RESULTS The ERG findings demonstrated a reduction in the amplitude of the scotopic b-wave in 4 participants 3 months after implantation (month 3). All parameters returned to baseline values by month 12 and remained so at month 36 with no clinical impact on dark adaptation. There was no change in visual acuity compared with baseline. The area of the defect as measured functionally by microperimetry and structurally by the en face OCT imaging of the ellipsoid zone loss appeared unchanged from baseline. CONCLUSIONS The intraocular delivery of CNTF in the encapsulated cell implant appeared to be safe and well tolerated in eyes with macular telangiectasia type 2. Further evaluation in a randomized controlled clinical trial is warranted to test for efficacy. PMID:25528956

  3. Successful treatment of facial telangiectasias using a micropulse 1,064-nm neodymium-doped yttrium aluminum garnet laser.

    Science.gov (United States)

    Rose, Amy E; Goldberg, David J

    2013-07-01

    To evaluate the safety and efficacy of a microsecond 1,064-nm neodymium-doped yttrium aluminum garnet (Nd:YAG) laser for the treatment of facial telangiectasias. Subjects ages 35-70 with Fitzpatrick skin types I to III and facial telangiectasias underwent two treatments with a micropulse (0.65 ms) 1,064-nm Nd:YAG laser. Treatments were spaced 30 days apart, with a final evaluation 60 days after the second treatment. Evaluation included digital photography and an assessment of the degree of improvement on a scale from 1 to 5 by the subject and a nontreating investigator. Twenty subjects (18 women, two men) with Fitzpatrick skin type II and III completed the study. The nontreating investigator rated the objective clinical response as total clearance (100% clear) in 10% (n = 2) of subjects, significant clearance (≥50% clear) in 75% (n = 15), and some clearance (0-49% clear) in 15% (n = 3). None of the subjects was rated as having no clearance or worsening. In terms of subjective clearance reported by subjects, 80% (n = 16) reported significant clearance, with the remainder reporting some clearance. No adverse events were reported. The micropulse 1,064-nm Nd:YAG successfully treated facial telangiectasias with a high degree of patient satisfaction, minimal discomfort, and no adverse events. © 2013 by the American Society for Dermatologic Surgery, Inc. Published by Wiley Periodicals, Inc.

  4. Immediate post-partum haemorrhage: Epidemiological aspects and maternal prognosis at South N’djamena District Hospital (Chad

    Directory of Open Access Journals (Sweden)

    Gabkika Bray Madoue

    2015-05-01

    Full Text Available Background: Post-partum haemorrhage defined as blood loss after delivery over 500mls, affects all countries and is the commonest cause of maternal mortality. It is a frequent obstetric emergency in developing countries. Objective: To identify the causes of post-partum haemorrhage and identify adequate management of immediate post-partum haemorrhage and thus reduce maternal mortality. Patients and methods: This was a prospective and descriptive study of one year from 1st January 2014 to 31stDecember 2014 conducted at South N’Djamena district hospital. Before including a patient in our survey her consent was obtained after explaining to her the need for the survey. All consenting patients with post-partum haemorrhage were included. Data were analyzed using SPSS17.0. Results: We recorded 100 cases of post-partum haemorrhage among 6815 deliveries giving an incidence of 1.47%. The average age of the women was 25.0 years. The majority of deliveries (90% were vaginal. The main cause of immediate post-partum haemorrhage was a third stage of labour bleeding (66% followed by genital lesions (32%. The management was medical (uterotonic drug, fluid replacement and blood transfusion, obstetric (manual removal of placenta or clot, and surgical (suture of lesions, vascular ligature and hysterectomy. There were two maternal deaths (2%. Conclusion: Post-partum haemorrhage is often fatal in our region. Preventive measures and efficient management can help to improve maternal prognosis.

  5. Targeting the Ataxia Telangiectasia Mutated-null phenotype in chronic lymphocytic leukemia with pro-oxidants

    Science.gov (United States)

    Agathanggelou, Angelo; Weston, Victoria J.; Perry, Tracey; Davies, Nicholas J.; Skowronska, Anna; Payne, Daniel T.; Fossey, John S.; Oldreive, Ceri E.; Wei, Wenbin; Pratt, Guy; Parry, Helen; Oscier, David; Coles, Steve J.; Hole, Paul S.; Darley, Richard L.; McMahon, Michael; Hayes, John D.; Moss, Paul; Stewart, Grant S.; Taylor, A. Malcolm R.; Stankovic, Tatjana

    2015-01-01

    Inactivation of the Ataxia Telangiectasia Mutated gene in chronic lymphocytic leukemia results in resistance to p53-dependent apoptosis and inferior responses to treatment with DNA damaging agents. Hence, p53-independent strategies are required to target Ataxia Telangiectasia Mutated-deficient chronic lymphocytic leukemia. As Ataxia Telangiectasia Mutated has been implicated in redox homeostasis, we investigated the effect of the Ataxia Telangiectasia Mutated-null chronic lymphocytic leukemia genotype on cellular responses to oxidative stress with a view to therapeutic targeting. We found that in comparison to Ataxia Telangiectasia Mutated-wild type chronic lymphocytic leukemia, pro-oxidant treatment of Ataxia Telangiectasia Mutated-null cells led to reduced binding of NF-E2 p45-related factor-2 to antioxidant response elements and thus decreased expression of target genes. Furthermore, Ataxia Telangiectasia Mutated-null chronic lymphocytic leukemia cells contained lower levels of antioxidants and elevated mitochondrial reactive oxygen species. Consequently, Ataxia Telangiectasia Mutated-null chronic lymphocytic leukemia, but not tumors with 11q deletion or TP53 mutations, exhibited differentially increased sensitivity to pro-oxidants both in vitro and in vivo. We found that cell death was mediated by a p53- and caspase-independent mechanism associated with apoptosis inducing factor activity. Together, these data suggest that defective redox-homeostasis represents an attractive therapeutic target for Ataxia Telangiectasia Mutated-null chronic lymphocytic leukemia. PMID:25840602

  6. Spinal arachnoiditis as a consequence of aneurysm-related subarachnoid haemorrhage.

    Science.gov (United States)

    van Heerden, Jolandi; McAuliffe, William

    2013-02-01

    Only a few case reports currently exist regarding symptomatic spinal arachnoiditis following aneurysm-related subarachnoid haemorrhage. We present three patients who developed symptomatic spinal arachnoiditis following spontaneous aneurysm rupture. Following initial aneurysm and subarachnoid haemorrhage management (including ventriculo-peritoneal shunt placement), all three patients developed gradually worsening neurological abnormalities, and subsequent imaging demonstrated spinal arachnoiditis. Despite spinal decompression, all three patients experienced progressively worsening neurological decline. © 2012 The Authors; Journal of Medical Imaging and Radiation Oncology © 2012 The Royal Australian and New Zealand College of Radiologists.

  7. Embolization for non-variceal upper gastrointestinal tract haemorrhage: A systematic review

    Energy Technology Data Exchange (ETDEWEB)

    Mirsadraee, S.; Tirukonda, P.; Nicholson, A. [Department of Radiology, Leeds General Infirmary, Leeds (United Kingdom); Everett, S.M. [Department of Gastroenterology, Leeds General Infirmary, Leeds (United Kingdom); McPherson, S.J., E-mail: simon.mcpherson@leedsth.nhs.u [Department of Radiology, Leeds General Infirmary, Leeds (United Kingdom)

    2011-06-15

    Aim: To assess the published evidence on the endovascular treatment of non-variceal upper gastrointestinal haemorrhage. Materials and methods: An Ovid Medline search of published literature was performed (1966-2009). Non-English literature, experimental studies, variceal haemorrhage and case series with fewer than five patients were excluded. The search yielded 1888 abstracts. Thirty-five articles were selected for final analysis. Results: The total number of pooled patients was 927. The technical and clinical success of embolization ranged from 52-100% and 44-100%, respectively. The pooled mean technical/clinical success rate in primary upper gastrointestinal tract haemorrhage (PUGITH) only, trans-papillary haemorrhage (TPH) only, and mixed studies were 84%/67%, 93%/89%, and 93%/64%, respectively. Clinical outcome was adversely affected by multi-organ failure, shock, corticosteroids, transfusion, and coagulopathy. The anatomical source of haemorrhage and procedural variables did not affect the outcome. A successful embolization improved survival by 13.3 times. Retrospective comparison with surgery demonstrated equivalent mortality and clinical success, despite embolization being applied to a more elderly population with a higher prevalence of co-morbidities. Conclusions: Embolization is effective in this very difficult cohort of patients with outcomes similar to surgery.

  8. Woman presenting with chronic iron deficiency anemia associated with hereditary hemorrhagic telangiectasia: a case report

    Directory of Open Access Journals (Sweden)

    Stross P

    2013-11-01

    Full Text Available Paul StrossDepartment of Haematology, St Richard's Hospital, Chichester, United KingdomBackground: Hereditary hemorrhagic telangiectasia is an autosomal dominant disorder associated with frequent nose bleeds that can be troublesome and difficult to contain. A further manifestation is telangiectasia, which may develop in the upper and lower gastrointestinal tract. The associated blood loss can be chronic, resulting in iron deficiency anemia which, when severe, has historically been treated by blood transfusions. Further pulmonary, neurologic, and hepatic complications may appear in later life, and are well documented. Administering blood transfusions requires provision, storage, and serological testing to select suitable units. Recognition of the inherent potential risks of donated blood, the expense, and the concerns regarding blood supply, has resulted in a national policy for conservation and appropriate use of blood. For an individual patient, there may be development of alloantibodies which complicates future cross-matching for transfusions.Case report: SG is a 66-year-old Caucasian woman who first presented to our hematology department in 2003, having just moved to the area. She had suffered with nose bleeds since her teenage years and presented with a low hemoglobin level and symptoms of iron deficiency anemia. Medical and nonmedical interventions failed to arrest the blood loss, which had not been massive or associated with hypovolemic shock. Pursuant to conserving blood supplies, and based on experience of patients with other causes of iron deficiency anemia, a regimen of high-dose iron supplementation was adopted. The aim was to sustain iron stores as a substrate for erythropoiesis and thereby achieve adequate hemoglobin levels whilst minimizing the need for blood transfusion.Discussion: This approach has maintained the patient's hemoglobin levels at 6.4–11.6 g/dL over a period of 9 years. Until the time of writing in 2011, the

  9. Efficacy of Intravitreal Bevacizumab in Treatment of Proliferative Type 2 Idiopathic Juxtafoveal Telangiectasia

    Directory of Open Access Journals (Sweden)

    Ökkeş Baz

    2017-06-01

    Full Text Available Objectives: To evaluate the effectiveness of intravitreal bevacizumab (IVB in patients with subretinal neovascularization secondary to type 2 juxtafoveal telangiectasia. Materials and Methods: Ten eyes of 10 patients were included in this retrospective study. All cases were treated with IVB (1.25 mg bevacizumab. Visual acuity and slit-lamp anterior and posterior segment examinations were performed at each visit. Central macular thickness (CMT and intraretinal/subretinal fluid were evaluated via spectral domain optical coherence tomography (OCT. Loss of a line in visual acuity chart and presence of fluid on OCT were defined as criteria for repeated treatment. Results: The mean age of patients was 66.0±7.0 years (56-75. The mean follow-up time was 54.7±16.0 month (24-72. The mean BCVA was 0.62±0.35 (0.00-1.00 logMAR at baseline and 0.54±0.35 (0.00-1.00 logMAR at final exam (p=0.03. The mean CMT was 251±25.4 µm at baseline and 239±39.3 µm at final exam (p=0.01. Patients received an average of 1.7±1.0 IVB injections during follow-up. At baseline, all cases had intraretinal/subretinal fluid. There was no fluid at final examination of all cases. Conclusion: IVB treatment may be effective in the treatment of subretinal neovascularization secondary to type 2 juxtafoveal telangiectasia.

  10. Hereditary hemorrhagic telangiectasia and pregnancy: potential adverse events and pregnancy outcomes

    Directory of Open Access Journals (Sweden)

    Bari O

    2017-05-01

    Full Text Available Omar Bari,1 Philip R Cohen2 1School of Medicine, University of California San Diego, La Jolla, CA, USA; 2Department of Dermatology, University of California San Diego, La Jolla, CA, USA Abstract: Hereditary hemorrhagic telangiectasia (HHT is an autosomal dominant condition with a prevalence of ~1 in 5,000 individuals. The pathophysiology of this condition centers on the lack of capillary beds between arterioles and venules, leading to direct contact between these vessels. This results in telangiectases on characteristic locations such as the face, fingers, mouth, and nasal mucosa. Visceral arteriovenous malformations (AVMs are also observed in many patients, and these are most commonly seen in the brain, gastrointestinal tract, and lungs. Liver AVMs are present in many patients with HHT, though these individuals are usually asymptomatic; however, liver AVMs may lead to serious complications, such as high output cardiac failure. Diagnosis of HHT hinges upon fulfilling three out of four criteria: family history of the condition, mucocutaneous telangiectases, spontaneous and recurrent episodes of epistaxis, and visceral AVMs. Management is guided by international consensus guidelines and targets patients’ specific AVMs. Prognosis is good, though severe complications including hemorrhage and paradoxical emboli are possible. Novel therapeutics are being explored in clinical trials; bevacizumab and pazopanib inhibit angiogenesis, while thalidomide bolsters blood vessel maturation. Pregnancy in patients with HHT is considered high risk. While the majority of pregnancies proceed normally, severe complications have been reported in some women with HHT; these include heart failure, intracranial hemorrhage, pulmonary hemorrhage, and stroke. Such complications occur most often in the second and third trimesters when maternal changes such as peripheral vasodilation and increased cardiac output are at their maximum. Awareness of the diagnosis of HHT has

  11. Developmental venous anomaly (DVA) with arterial component: a rare cause of intracranial haemorrhage.

    Science.gov (United States)

    Oran, Ismail; Kiroglu, Yilmaz; Yurt, Alaattin; Ozer, Fisun Demircivi; Acar, Feridun; Dalbasti, Tayfun; Yagci, Baki; Sirikci, Akif; Calli, Cem

    2009-01-01

    To examine the clinical and radiologic findings of patients with developmental venous anomaly (DVA) associated with intracranial haemorrhage but unrelated to cavernoma. Computed tomography (CT) was used to obtain intracranial images from seven patients ranging in age from 6 to 51 years. Magnetic resonance imaging (MRI) was then performed on six patients, and two patients were further examined via CT angiography. Finally, digital subtraction angiography (DSA) was performed to confirm the initial diagnosis. CT showed intraparenchymal supratentorial haemorrhage in all patients. The combined imaging modalities eventually confirmed a diagnosis of arterialized DVA in four patients and arterialized DVA associated with arteriovenus malformation (AVM) in three. Two patients were managed symptomatically, two underwent radiosurgery, one underwent surgery, one underwent combined embolisation plus radiosurgery and the remaining patient underwent combined embolisation plus surgery. Two patients died, one as a result of re-bleeding, and the other due to radiation necrosis. The mean follow-up period was 33 months (6 months to 6 years) for the remaining five patients with favourable outcome. DVA associated with intraparenchymal haemorrhage, but not related to cavernoma, was confirmed. Though very rare, DVA may present with non-cavernoma-related haemorrhage in the form of arterialized DVA or DVA with AVM.

  12. Surgical treatment of gastrointestinal hereditary hemorrhagic telangiectasia.

    Science.gov (United States)

    Yen, Min-Hsuan; Chen, Chiung-Nien

    2016-04-01

    A 48-year-old man with a history of gastrointestinal bleeding from Osler-Weber-Rendu disease presented with recurrent hematemesis and tarry stool. He received repeated endoscopic therapy, but profound component therapy was still needed. Because repeated gastrointestinal bleeding was caused by same bleeder, tattoo-assisted laparoscopic gastric wedge resection was carried out. The pathology showed vascular abnormalities that involved gastric mucosal and submucosal layers. After surgery, the blood transfusion for the patient is not seen. Osler-Weber-Rendu is a hereditary disease characterized by vascular abnormalities of the nose, skin, lung, brain, and gastrointestinal tract. Management of gastrointestinal bleeding requires medical treatment first, and there are rare reports of surgical treatment. Our pathology findings showed a transmucosal vessel lesion, which had poor response to endoscopic treatment. Surgical intervention may be considered in the patient with gastrointestinal bleeding refractory to endoscopic therapy.

  13. Haemorrhagic shock due to spontaneous splenic haemorrhage complicating antiplatelet therapy: endovascular management

    Directory of Open Access Journals (Sweden)

    Garge S Shaileshkumar

    2015-01-01

    Full Text Available Spontaneous splenic haemorrahge and rupture is a rare but life-threatening condition requiring urgent diagnosis and treatment. Splenic haemorrhage and rupture precipitated by thrombolytic or antiocoagulant therapy has been reported frequently in the literature, but only two cases due to ticlopidine and one case due to salicyclate have been reported. We report the case of a 54-year-old man with haemorrhagic shock due to spontaneous splenic haemorrhage and rupture following dual antiplatelet (aspirin and clopidogrel therapy. He was successfully treated with selective angioembolization of the bleeding branch of the splenic artery.

  14. C-arm flat detector computed tomography parenchymal blood volume imaging: the nature of parenchymal blood volume parameter and the feasibility of parenchymal blood volume imaging in aneurysmal subarachnoid haemorrhage patients.

    Science.gov (United States)

    Kamran, Mudassar; Byrne, James V

    2015-09-01

    C-arm flat detector computed tomography (FDCT) parenchymal blood volume (PBV) measurements allow assessment of cerebral haemodynamics in the neurointerventional suite. This paper explores the feasibility of C-arm computed tomography (CT) PBV imaging and the relationship between the C-arm CT PBV and the MR-PWI-derived cerebral blood volume (CBV) and cerebral blood flow (CBF) parameters in aneurysmal subarachnoid haemorrhage (SAH) patients developing delayed cerebral ischemia (DCI). Twenty-six patients with DCI following aneurysmal SAH underwent a research C-arm CT PBV scan using a biplane angiography system and contemporaneous MR-PWI scan as part of a prospective study. Quantitative whole-brain atlas-based volume-of-interest analysis in conjunction with Pearson correlation and Bland-Altman tests was performed to explore the agreement between C-arm CT PBV and MR-derived CBV and CBF measurements. All patients received medical management, while eight patients (31%) underwent selective intra-arterial chemical angioplasty. Colour-coded C-arm CT PBV maps were 91% sensitive and 100% specific in detecting the perfusion abnormalities. C-arm CT rPBV demonstrated good agreement and strong correlation with both MR-rCBV and MR-rCBF measurements; the agreement and correlation were stronger for MR-rCBF relative to MR-rCBV and improved for C-arm CT PBV versus the geometric mean of MR-rCBV and MR-rCBF. Analysis of weighted means showed that the C-arm CT PBV has a preferential blood flow weighting (≈ 60% blood flow and ≈ 40% blood volume weighting). C-arm CT PBV imaging is feasible in DCI following aneurysmal SAH. PBV is a composite perfusion parameter incorporating both blood flow and blood volume weightings. That PBV has preferential (≈ 60%) blood flow weighting is an important finding, which is of clinical significance when interpreting the C-arm CT PBV maps, particularly in the setting of acute brain ischemia.

  15. C-arm flat detector computed tomography parenchymal blood volume imaging: the nature of parenchymal blood volume parameter and the feasibility of parenchymal blood volume imaging in aneurysmal subarachnoid haemorrhage patients

    Energy Technology Data Exchange (ETDEWEB)

    Kamran, Mudassar; Byrne, James V. [University of Oxford, Nuffield Department of Surgical Sciences, Oxford (United Kingdom)

    2015-09-15

    C-arm flat detector computed tomography (FDCT) parenchymal blood volume (PBV) measurements allow assessment of cerebral haemodynamics in the neurointerventional suite. This paper explores the feasibility of C-arm computed tomography (CT) PBV imaging and the relationship between the C-arm CT PBV and the MR-PWI-derived cerebral blood volume (CBV) and cerebral blood flow (CBF) parameters in aneurysmal subarachnoid haemorrhage (SAH) patients developing delayed cerebral ischemia (DCI). Twenty-six patients with DCI following aneurysmal SAH underwent a research C-arm CT PBV scan using a biplane angiography system and contemporaneous MR-PWI scan as part of a prospective study. Quantitative whole-brain atlas-based volume-of-interest analysis in conjunction with Pearson correlation and Bland-Altman tests was performed to explore the agreement between C-arm CT PBV and MR-derived CBV and CBF measurements. All patients received medical management, while eight patients (31 %) underwent selective intra-arterial chemical angioplasty. Colour-coded C-arm CT PBV maps were 91 % sensitive and 100 % specific in detecting the perfusion abnormalities. C-arm CT rPBV demonstrated good agreement and strong correlation with both MR-rCBV and MR-rCBF measurements; the agreement and correlation were stronger for MR-rCBF relative to MR-rCBV and improved for C-arm CT PBV versus the geometric mean of MR-rCBV and MR-rCBF. Analysis of weighted means showed that the C-arm CT PBV has a preferential blood flow weighting (∼60 % blood flow and ∼40 % blood volume weighting). C-arm CT PBV imaging is feasible in DCI following aneurysmal SAH. PBV is a composite perfusion parameter incorporating both blood flow and blood volume weightings. That PBV has preferential (∼60 %) blood flow weighting is an important finding, which is of clinical significance when interpreting the C-arm CT PBV maps, particularly in the setting of acute brain ischemia. (orig.)

  16. Immediate post-partum haemorrhage: Epidemiological aspects and ...

    African Journals Online (AJOL)

    The majority of deliveries (90%) were vaginal. ... post-partum haemorrhage was a third stage of labour bleeding (66%) followed by genital lesions (32%). ..... Seattle Path. TrAININg To MANAgE. poST-pArTUM HAEMorrHAgE. Most readers know that immediate post-partum haemorrhage is a problem in South Sudan as well ...

  17. Telangiectasia hemorrágica hereditária: resposta hematológica após terapêutica com talidomida

    Directory of Open Access Journals (Sweden)

    Eduardo Ribeiro

    2013-03-01

    Full Text Available A telangiectasia hemorrágica hereditária (THH é uma doença autossómica dominante, que se distingue em dois tipos, devidos a mutações em genes diferentes. É caracterizada por telangiectasias mucocutâneas e viscerais, envolvendo vários órgãos com malformações vasculares. O sintoma comum é a anemia. O diagnóstico clínico é baseado na presença de pelo menos três das quatro principais características clínicas: epistáxis, telangiectasias cutâneas ou mucosas, envolvimento visceral e história familiar. Dependendo das manifestações da doença e da sua gravidade, existem várias formas de tratamento que variam desde terapêutica local, a cirurgia, ou terapêutica farmacológica. Apresentamos o caso de um paciente com THH e anemia por deficiência de ferro grave, dependente de transfusões de sangue frequentes, que teve uma melhoria dramática após terapêutica com a talidomida, sem ocorrência de efeitos colaterais. Hereditary hemorrhagic telangiectasia (HHT is an autosomal dominant disease and is distinguished into two types, which are due to mutations in different genes. It is characterized by mucocutaneous and visceral telangiectasia and involves several organs with vascular malformations. The common symptom is anemia. The clinical diagnosis is based on the presence of at least three of four main clinical features: epistaxis, cutaneous or mucosal telangiectases, visceral involvement and a family history. Depending on disease manifestation and it severity, there are several forms of therapy ranging from local therapy, surgery ou drug therapy. Here we describe a dramatic improvement of a patient with HHT and severe iron deficiency anemia, requiring frequent blood transfusion, successfully treated with thalidomide, without side effects.

  18. Accuracy of physical and ultrasonographic examinations by emergency physicians for the early diagnosis of intraabdominal haemorrhage in blunt abdominal trauma.

    Science.gov (United States)

    Soyuncu, S; Cete, Y; Bozan, H; Kartal, M; Akyol, A J

    2007-05-01

    To determine the accuracy of physical examination and ultrasonographic evaluation performed by emergency physicians in cases of blunt abdominal trauma for the early diagnosis of intraabdominal haemorrhage. In this clinical prospective study, trauma patients were evaluated with four-quadrant ultrasonography by emergency physicians after initial stabilisation and physical examination. Diagnoses based on demographic data, physical examination and emergency physician's ultrasonography were compared with the subsequent clinical course. A total of 442 patients participated in the study. The sensitivity and specificity of emergency physician's ultrasonographic examination to detect intraabdominal haemorrhage were 86 and 99%, respectively. Pre-test sensitivity and specificity of physical examination to detect intraabdominal haemorrhage were 39 and 90%, respectively. Physical examination was not a reliable method to detect intraabdominal haemorrhage in cases of blunt abdominal trauma. In contrast, abdominal ultrasonography performed by emergency physicians was a reliable diagnostic tool. Emergency physicians should be familiar with abdominal ultrasonographic examination, which should be routine in cases of blunt abdominal trauma.

  19. Gastrointestinal Manifestations of Hereditary Hemorrhagic Telangiectasia (HHT): A Systematic Review of the Literature.

    Science.gov (United States)

    Jackson, Samuel B; Villano, Nicholas P; Benhammou, Jihane N; Lewis, Michael; Pisegna, Joseph R; Padua, David

    2017-10-01

    Hereditary hemorrhagic telangiectasia (HHT), also called Osler-Weber-Rendu syndrome, is an autosomal dominant genetic disease that affects the vasculature of numerous organs. The prevalence of HHT is estimated to be between 1.5 and 2 persons per 10,000. While there is still much to learn about this condition, there is an increasing understanding its underlying pathophysiology, genetic basis, presentations, and management. Recognizing that the clinical manifestations of HHT can involve a number of organ systems will provide clinicians with a higher index of suspicion for the disease. This early diagnosis and genotyping can greatly reduce mortality for a patient with HHT through appropriate screening for complications. This review will focus on the gastrointestinal manifestations of HHT and how these can dictate treatment and prognosis.

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

    Energy Technology Data Exchange (ETDEWEB)

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

    1997-03-01

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

  1. Intracerebral haemorrhage in primary and metastatic brain tumours.

    Science.gov (United States)

    Salmaggi, Andrea; Erbetta, Alessandra; Silvani, Antonio; Maderna, Emanuela; Pollo, Bianca

    2008-09-01

    Intracerebral haemorrhage may both be a presenting manifestation in unrecognised brain tumour or--more frequently--take place in the disease course of known/suspected brain tumour due to diagnostic/therapeutic procedures, including biopsy, locoregional treatments and anti-angiogenic therapies. Apart from the difficulties inherent to accurate neuroradiological diagnosis in selected cases with small tumour volume, the main clinical problem that neurologists face is represented by decision making in prophylaxis/treatment of venous thromboembolism in these patients. These points are briefly discussed and available evidence on the last point is commented on.

  2. Initial presentation of a giant gastrointestinal stromal tumour of the stomach with recurrent spontaneous intra-peritoneal haemorrhage

    Directory of Open Access Journals (Sweden)

    Margarida Vinagreiro

    2015-01-01

    Discussion and conclusion: GISTs are uncommon and rarely present with spontaneous intra-peritoneal haemorrhage, which may be life threatening. In our understanding, this is the first reported case of the reviewed literature presenting with a chronic hemoperitoneum, due to recurrent brisk episodes of tumour haemorrhage. Tumour rupture and large tumour size are two poor independent prognostic tumour factors for recurrence. Despite this, the patient remains free of disease after surgery and instituted adjuvant imatinib mesylate.

  3. Dengue and dengue haemorrhagic fever: Indian perspective

    Indian Academy of Sciences (India)

    PRAKASH KUMAR

    problems of dengue is presented here. [Chaturvedi U C and Nagar R 2008 Dengue and dengue haemorrhagic fever: Indian perspective; J. Biosci. ..... crisis management. We need dedicated teams to solve the problems and minimize the human suffering. Acknowledgements. We thank Dr. Cecilia Dayaraj, Division of ...

  4. Cyclophosphamide induced Haemorrhagic Cystitis; a review of ...

    African Journals Online (AJOL)

    Cyclophosphamide is an akylating agent widely used in the management of both malignant and non neoplastic disorders. We undertook this review to assess the advancement in knowledge regarding the aetiopathogenesis and current management approaches of haemorrhagic cystitis resulting from the use of ...

  5. Necrotising haemorrhagic pancreatitis with intra-abdominal ...

    African Journals Online (AJOL)

    Severe necrotising haemorrhagic pancreatitis is a challenging clinical condition that carries a high mortality especially in resource-limited settings. The management requires a multidisciplinary approach in a well-equipped critical care unit. The decision for operative versus conservative management is a close call and one ...

  6. Bilateral benign haemorrhagic adrenal cysts in Beckwith ...

    African Journals Online (AJOL)

    Beckwith-Wiedemann syndrome is the most common overgrowth malformation syndrome. The classical features include macrosomia, macroglossia, omphalocele and ear lobe anomalies. Among the associated adrenal anomalies, foetal cortical cytomegaly, outer cortical haemorrhage and unilateral benign cysts are well ...

  7. Ebola haemorrhagic fever among hospitalised children and ...

    African Journals Online (AJOL)

    Background : A unique feature of previous Ebola outbreaks has been the relative sparing of children. For the first time, an out break of an unusual illness-Ebola haemorrhagic fever occurred in Northern Uganda - Gulu district. Objectives : To describe the epidemiologic and clinical aspects of hospitalised children and ...

  8. Review: Medical treatment of postpartum haemorrhage | Hofmeyr ...

    African Journals Online (AJOL)

    Postpartum haemorrhage (PPH) may occur unexpectedly in any woman who has given birth. All birth attendants must have the skills and knowledge to manage PPH quickly and effectively. This may include rubbing up the uterus and bimanual compression, resuscitation, removal of retained placental tissue and surgical ...

  9. Managing Major Early (Primary) Postpartum Haemorrhage in ...

    African Journals Online (AJOL)

    Major primary postpartum haemorrhage continues to top the list of causes of maternal mortality worldwide. Delays in the correction of hypovolaemia, diagnosis and treatment of bleeding disorders and initiation of surgery are preventable factors responsible for majority of the deaths. The situation is worse in the developing ...

  10. Sanitation of viral haemorrhagic septicaemia (VHS)

    DEFF Research Database (Denmark)

    Olesen, Niels Jørgen

    1998-01-01

    A sanitation programme for stamping-out viral haemorrhagic septicaemia (VHS) was implemented in Denmark in 1965. The programme has resulted in a dramatic reduction in the number of infected rainbow trout farms, from approximate to 400 to 26. The programme is carried out on a voluntary basis...

  11. Case Report: Adrenal Haemorrhage: Clinical Presentation And ...

    African Journals Online (AJOL)

    Neonatal Adrenal Haemorrhage (NAH) is a rare condition resulting from a variety of aetiological factors. It has a potential for a catastrophic outcome, thus underscoring the need for a high index of suspicion and a reliable/accurate method of diagnosis. This case report is to alert on the diagnostic possibility of NAH and ...

  12. A therapeutic challenge: catastrophic anti-phospholipid syndrome with diffuse alveolar haemorrhage.

    Science.gov (United States)

    Martis, Nihal; Blanchouin, Eléa; Lazdunski, Rémi; Lechtman, Sarah; Robert, Alexandre; Hyvernat, Hervé; Doyen, Denis; Dellamonica, Jean; Bernardin, Gilles

    2015-06-01

    Diffuse alveolar haemorrhage (DAH) complicating primary catastrophic anti-phospholipid syndrome (CAPS) was diagnosed in a 50-year-old female patient. Treatment strategies are limited for this often life-threatening autoimmune disease that requires aggressive immunosuppression. In the absence of clinically validated treatment strategies, high-dose steroids associated with plasma exchange and eventually intravenous immunoglobulins were used to manage the disease. Its severity prompted the initiation of rituximab that was administered weekly for four consecutive weeks. Anticoagulation therapy, on the other hand, needed to be discontinued due to the major haemorrhagic episodes. This combination treatment provided an effective control of the CAPS-associated DAH and helped achieve clinical remission.

  13. A double-blind, randomized study comparing pure chromated glycerin with chromated glycerin with 1% lidocaine and epinephrine for sclerotherapy of telangiectasias and reticular veins.

    Science.gov (United States)

    Kern, Philippe; Ramelet, Albert-Adrien; Wutschert, Robert; Mazzolai, Lucia

    2011-11-01

    Chromated glycerin (CG) is an effective, although painful, sclerosing agent for telangiectasias and reticular leg veins treatment. To determine pain level and relative efficacy of pure or one-third lidocaine-epinephrine 1% mixed chromated glycerin in a prospective randomized double-blind trial. Patients presenting with telangiectasias and reticular leg veins on the lateral aspect of the thigh (C(1A) or (S) E(P) A(S) P(N1) ) were randomized to receive pure CG or CG mixed with one-third lidocaine-epinephrine 1% (CGX) treatment. Lower limb photographs were taken before and after treatment and analyzed by blinded expert reviewers for efficacy assessment (visual vein disappearance). Patients' pain and satisfaction were assessed using visual analogue scales. Data from 102 of 110 randomized patients could be evaluated. Patient pain scores were significantly higher when pure CG was used than with CGX (p<.001). Patient satisfaction with treatment outcome was similar in the two groups. Objective visual assessment of vessel disappearance revealed no significant difference between the two agents (p=.07). Addition of lidocaine-epinephrine 1% to CG, in a ratio of one-third, significantly reduces sclerotherapy pain without affecting efficacy when treating telangiectasias and reticular leg veins. © 2011 by the American Society for Dermatologic Surgery, Inc.

  14. Severe postpartum haemorrhage from ruptured pseudoaneurysm: successful treatment with transcatheter arterial embolization

    Energy Technology Data Exchange (ETDEWEB)

    Soyer, Philippe; Fargeaudou, Yann; Boudiaf, Mourad; Le Dref, Olivier; Rymer, Roland [Hopital Lariboisiere-AP-HP Universite Paris 7, Department of Abdominal Imaging, Paris cedex 10 (France); Morel, Olivier [Hopital Lariboisiere-AP-HP Universite Paris 7, Department of Obstetrics, Paris cedex 10 (France)

    2008-06-15

    The purpose of this retrospective study was to evaluate the role of transcatheter arterial embolization in the management of severe postpartum haemorrhage due to a ruptured pseudoaneurysm and to analyse the clinical symptoms that may suggest a pseudoaneurysm as a cause of postpartum haemorrhage. A retrospective search of our database disclosed seven women with severe postpartum haemorrhage in whom angiography revealed the presence of a uterine or vaginal artery pseudoaneurysm and who were treated using transcatheter arterial embolization. Clinical files were reviewed for possible clinical findings that could suggest pseudoaneurysm as a cause of bleeding. Angiography revealed extravasation of contrast material in five out of seven patients. Transcatheter arterial embolization allowed to control the bleeding in all patients and subsequently achieve vaginal suture in four patients with vaginal laceration. No complications related to transcatheter arterial embolization were noted. Only two patients had uterine atony, and inefficiency of sulprostone was observed in all patients. Transcatheter arterial embolization is an effective and secure technique for the treatment of severe postpartum haemorrhage due to uterine or vaginal artery pseudoaneurysm. Ineffectiveness of suprostone and absence of uterine atony should raise the possibility of a ruptured pseudoaneurysm. (orig.)

  15. Intense pulsed light vs. long-pulsed dye laser treatment of telangiectasia after radiotherapy for breast cancer: a randomized split-lesion trial of two different treatments

    DEFF Research Database (Denmark)

    Nymann, P.; Hedelund, L.; Hædersdal, Merete

    2009-01-01

    ); the interventions were randomly assigned to left/right or upper/lower halves. Primary end-points were reduction in telangiectasia, patient satisfaction and preferred treatment. Secondary end-points were pain and adverse effects. Efficacy was registered by blinded photographic evaluations 3 months after the final......Background Chronic radiodermatitis is a common sequela of treatment for breast cancer and potentially a psychologically distressing factor for the affected women. Objectives To evaluate the efficacy and adverse effects of treatments with a long-pulsed dye laser (LPDL) vs. intense pulsed light (IPL...... treatment. Results Eleven patients completed the study. Telangiectasia cleared with both treatments but the efficacy of LPDL was superior. Blinded photographic evaluations showed median vessel clearances of 90% (LPDL) and 50% (IPL) (P = 0.01). LPDL treatments were associated with lower pain scores than IPL...

  16. Nosocomial infection of Crimean-Congo haemorrhagic fever in eastern Iran: case report.

    Science.gov (United States)

    Chinikar, Sadegh; Shayesteh, Majid; Khakifirouz, Sahar; Jalali, Tahmineh; Rasi Varaie, Fereshteh Sadat; Rafigh, Mahboubeh; Mostafavi, Ehsan; Shah-Hosseini, Nariman

    2013-01-01

    An outbreak of Crimean-Congo haemorrhagic fever occurred in the county of Birjand in eastern Iran in November 2011. Four cases were involved in this outbreak. Two patients died after admission to hospital, one of whom was a nurse who acquired the infection nosocomially, and the others were treated successfully. Copyright © 2012 Elsevier Ltd. All rights reserved.

  17. Profound bilateral visual loss after hysterectomy indicated for severe postpartum haemorrhage

    DEFF Research Database (Denmark)

    Ostri, Christoffer; Zibrandtsen, Nathalie; Larsen, Michael

    2014-01-01

    We present a case of a patient with bilateral posterior ischaemic optic neuropathy in the previously unreported setting of hysterectomy indicated for severe postpartum haemorrhage. The diagnosis was based on clinical and paraclinical examinations, including MRI of the head, electroretinography (ERG...

  18. Haemorrhage in intracranial tuber- culosis

    African Journals Online (AJOL)

    A 22-year-old black female patient presented with headache, drowsiness and disorientation. Clinically she had marked neck stiffness, multiple cra- nial nerve palsies (right third and sev- enth, bilateral sixth), and bilateral pyramidal tract signs. Fundoscopy was normal. The patient was HIV- negative. CSF analysis revealed a.

  19. Orthodeoxia without Platypnea in Hereditary Hemorrhagic Telangiectasia in the Presence of a Cerebral Abscess and Multiple Pulmonary Arteriovenous Malformations: Unusual Complications and Transcatheter Endovascular Treatment

    Directory of Open Access Journals (Sweden)

    Carlos Salazar

    2017-01-01

    Full Text Available Hereditary hemorrhagic telangiectasia is a rare autosomal-dominant condition affecting visceral blood vessel development. Cerebral and most commonly pulmonary arteriovenous malformations are found in the majority of symptomatic patients. The most common complications include embolic strokes and cerebral abscesses, which have been attributed to abnormal vessel communications. Platypnea orthodeoxia is a rare condition that presents dyspnea and oxygen desaturation when adopting an upright position and is relieved on decubitus. The association between hereditary hemorrhagic telangiectasia, pulmonary arteriovenous malformations, and platypnea orthodeoxia has been described in medical literature; however, orthodeoxia as a single entity without platypnea has not been described yet, especially associated with complications of this hereditary condition. We present the case of a 38-year-old male with persistent headaches, in whom a cerebral lesion was detected. Orthostatic tachycardia and severe orthodeoxia without platypnea were evidenced during physical examination. The patient was subsequently diagnosed with hereditary hemorrhagic telangiectasia and underwent cerebral abscess drainage as well as transcatheter endovascular closure of multiple pulmonary arteriovenous malformations. For this reason, the concept of platypnea orthodeoxia syndrome needs further revision. Patients presenting refractory hypoxemia should warn physicians to initially evaluate their oxygen saturation measurements during standing and decubitus position, even though platypnea may not be present.

  20. Chemical gastro-oesophagitis, upper gastrointestinal haemorrhage and gastroscopic findings following Dettol poisoning.

    Science.gov (United States)

    Chan, T Y; Sung, J J; Critchley, J A

    1995-01-01

    1. Dettol liquid (chloroxylenol 4.8%, pine oil, isopropyl alcohol), a household disinfectant, has a corrosive action on the gastrointestinal mucosa when swallowed. The incidence of upper gastrointestinal haemorrhage and gastroscopic findings following Dettol poisoning was studied in 89 patients. 2. Five patients (5.6%) developed minor haematemesis, in the form of coffee-coloured or blood-stained vomitus. One patient had a gastroscopy performed on the day after admission, showing signs of chemical burns in the oesophagus and stomach. Gastroscopy was performed in one other patient on day 11 to rule out oesophageal stricture; the patient was normal. All patients completely recovered. 3. The data from this study suggest that upper gastrointestinal haemorrhage following Dettol poisoning tends to be mild and self-limiting. Gastroscopy, which may increase the risk of aspiration in patients with impaired consciousness, is not required unless other causes of gastrointestinal bleeding are suspected.

  1. Telangiectasia hemorrágica hereditária: ácido tranexâmico no tratamento de úlcera plantar Hereditary hemorrhagic telangiectasia: tranexamic acid for plantar ulcer

    Directory of Open Access Journals (Sweden)

    Gabriella Corrêa de Albuquerque

    2005-12-01

    Full Text Available Relato de um caso de úlcera plantar por fístula arteriovenosa em paciente portador de telangiectasia hemorrágica hereditária ou doença de Rendu-Osler-Weber tratado com ácido tranexâmico. Este fármaco é utilizado para tratamento de epistaxe, referindo-se o principal achado deste artigo ao uso eficaz desse medicamento na terapia de úlceras plantares hemorrágicas. São descritos os aspectos fisiopatológicos e clínicos da doença e as propriedades antifibrinolíticas do ácido tranexâmico. Este foi bem tolerado e apresentou evidências de eficácia na utilização para controle do sangramento e cicatrização da úlcera.Case report of one patient with Hereditary Hemorrhagic Telangiectasia, also known as Rendu-Osler-Weber syndrome, treated with Tranexamic Acid for arteriovenous plantar ulcer. This drug has proved effective in controlling epistaxis, but the main point of this report is to expose the success use of this medication in the therapy of skin bleeding ulcer. The pathophysiologic and clinical features of the disease are reviewed and also the pharmacological aspects of the antifibrinolytic drugs. This drug was well tolerated by the patient and show evidence of good activity in the bleeding and healed the ulcer.

  2. Outcome following subdural haemorrhages in infancy

    OpenAIRE

    Jayawant, Sandeep; Parr, Jeremy,

    2007-01-01

    Subdural haemorrhages (SDH) are associated with significant neurodisability in affected individuals. The incidence of SDH in infants is between 12 and 25 cases per 100 000 children and most detected SDH are due to physical abuse. In the infant brain, SDH are caused by tearing of the bridging veins in the subdural space and may result in significant brain injury. The challenge of assessing outcome in infants with SDH is evaluating whether SDH or other accompanying brain insults are instrumenta...

  3. A rare cause of fatal intracranial haemorrhage.

    LENUS (Irish Health Repository)

    Neligan, A

    2012-01-31

    INTRODUCTION: We report the case of a 53-year-old farmer with a 5-day history of severe headache, photophobia and neck stiffness. Full blood count (platelets 173), coagulation screen were normal throughout. Liver function tests remained normal apart from an elevated gamma-GT (156). CT Brain was normal. CSF analysis showed a WCC of 454\\/mm(3) (60% lymphocytes), elevated CSF protein (1.42 g\\/l) and a normal CSF glucose. He was commenced on IV antibiotics and IV acyclivor and improved. On day 3 of admission, he complained of a sudden severe headache, became unresponsive (GCS 3\\/15). INVESTIGATIONS: CT Brain showed a massive left intraventricular haemorrhage. He died 4 days later. Subsequent serum serology for leptospirosis was positive. A repeat sample taken 4 days post-admission, showed a rising IgM indicating active leptospirosis. Detailed pathological examination confirmed intracerebral haemorrhage with normal cerebral vasculature. CONCLUSION: Leptospirosis is a rare cause of intracerebral haemorrhage even in the absence of coagulopathy.

  4. Terapia alternativa para microvarizes e telangiectasias com uso de agulha Alternative therapy for microvarices and telangiectasias with use of needle

    Directory of Open Access Journals (Sweden)

    Raimundo Rosendo de Oliveira

    2007-03-01

    Full Text Available CONTEXTO: O desenvolvimento de terapia alternativa à convencional para a destruição de microvarizes e telangiectasias sem o uso de produtos químicos tem como objetivo reduzir os efeitos colaterais, faz uso de agulha para lise mecânica dos vasos e tem como modelo experimental galinhas da linhagem Lohmann Brown. OBJETIVO: Elaborar uma nova técnica, desenvolvendo um tratamento alternativo, sem uso de produtos químicos, objetivando a redução dos efeitos colaterais. MÉTODOS: Foram utilizadas 30 galinhas da linhagem Lohmann Brown, sendo que 15 foram submetidas ao método convencional de tratamento de microvarizes e telangiectasias (grupo-controle e as outras 15 receberam o tratamento experimental proposto (grupo experimental. O grupo experimental foi tratado com agulha de lise vascular, percorrendo todo o trajeto dos vasos escolhidos em punções escalonadas até que todo o vaso ser atingido. O grupo-controle foi tratado com oleato de monoetanolamina e glicose a 50%, puncionando-se o vaso com agulha 13 x 3 mm e injetando-se, em média, 0,3 mL da solução em cada vaso. RESULTADOS: Dos 50 vasos tratados no grupo experimental, dois apresentaram recidiva total, cinco apresentaram recidiva parcial, e 43 apresentaram destruição (lise satisfatória; enquanto que, no grupo-controle, dos 51 vasos tratados, quatro apresentaram recidiva total, 12, recidiva parcial, 22, destruição satisfatória, e em 13 ocorreu endurecimento de trajeto. CONCLUSÃO: O presente estudo demonstrou que o método experimental proposto, com uso de agulha de lise vascular, possui mais eficiência no tratamento de microvarizes se comparado com o método convencional, devido à redução das recidivas e à ausência de hipercromia de trajeto endurecido.BACKGROUND: The development of an alternative to the conventional therapy for microvarices and telangiectasias without using chemical products aims at reducing side effects, using a needle for mechanical lysis of vessels. It

  5. Brain glucose metabolism in adults with ataxia-telangiectasia and their asymptomatic relatives

    Science.gov (United States)

    Tomasi, Dardo; Wang, Gene-Jack; Studentsova, Yana; Margus, Brad; Crawford, Thomas O.

    2014-01-01

    Ataxia-telangiectasia is a recessive genetic disorder (ATM is the mutated gene) of childhood with severe motor impairments and whereas homozygotes manifest the disorder, heterozygotes are asymptomatic. Structural brain imaging and post-mortem studies in individuals with ataxia-telangiectasia have reported cerebellar atrophy; but abnormalities of motor control characteristic of extrapyramidal dysfunction suggest impairment of broader motor networks. Here, we investigated possible dysfunction in other brain areas in individuals with ataxia-telangiectasia and tested for brain changes in asymptomatic relatives to assess if heterozygocity affects brain function. We used positron emission tomography and 18F-fluorodeoxyglucose to measure brain glucose metabolism (quantified as µmol/100 g/min), which serves as a marker of brain function, in 10 adults with ataxia-telangiectasia, 19 non-affected adult relatives (12 siblings, seven parents) and 29 age-matched healthy controls. Statistical parametric mapping and region of interest analyses were used to compare individuals with ataxia-telangiectasia, asymptomatic relatives, and unrelated controls. We found that participants with ataxia-telangiectasia had lower metabolism in cerebellar hemispheres (14%, P ataxia-telangiectasia also had higher metabolism in globus pallidus (16%, P = 0.05), which correlated negatively with motor performance. Asymptomatic relatives had lower metabolism in anterior vermis (12%; P = 0.01) and hippocampus (19%; P = 0.002) than controls. Our results indicate that, in addition to the expected decrease in cerebellar metabolism, participants with ataxia-telangiectasia had widespread changes in metabolic rates including hyperactivity in globus pallidus indicative of basal ganglia involvement. Changes in basal ganglia metabolism offer potential insight into targeting strategies for therapeutic deep brain stimulation. Our finding of decreased metabolism in vermis and hippocampus of asymptomatic relatives

  6. Nd:YAG laser hyaloidotomy for valsalva pre-macular haemorrhage.

    LENUS (Irish Health Repository)

    Kirwan, R P

    2012-02-01

    AIM: To report a case of successful drainage of a large pre-macular haemorrhage using laser photo-disruption of the posterior hyaloid membrane. MATERIALS AND METHODS: A case report. RESULTS: A 47-year-old man presented acutely to our emergency department complaining of a 24-h history of sudden onset, painless and persistent loss of vision in his left eye. Immediately before noticing this loss of vision, he had been vomiting violently from excessive alcohol intake. The left visual acuity was counting fingers. Dilated fundoscopy of the left eye revealed a large pre-macular haemorrhage which was 14 disc diametres in size. Clotting investigations were normal. A diagnosis of valsalva retinopathy was made and the patient elected to receive a prompt neodymium-doped yttrium aluminium garnet (Nd:YAG) laser posterior hyaloidotomy as an outpatient. At 1 week follow-up, the haemorrhage had drained completely into the vitreous space revealing a healthy macula and the visual acuity had improved to 6\\/12 unaided. At 6-month follow-up the left visual acuity stabilised at 6\\/9 unaided. CONCLUSION: Nd:YAG laser posterior hyaloidotomy is a useful outpatient procedure for successful clearance of large pre-macular haemorrhages that offers patients rapid recovery of visual acuity and the avoidance of more invasive intraocular surgery.

  7. Uterine compression sutures for management of severe postpartum haemorrhage: five-year audit.

    Science.gov (United States)

    Chai, Victoria Y K; To, William W K

    2014-04-01

    To audit the use of compression sutures for the management of massive postpartum haemorrhage and compare outcomes to those documented in the literature. Retrospective study. A regional obstetric unit in Hong Kong. Patients with severe postpartum haemorrhage encountered over a 5-year period from January 2008 to December 2012, in which compression sutures were used for management. Successful management with prevention of hysterectomy. In all, 35 patients with massive postpartum haemorrhage with failed medical treatment, for whom compression sutures were used in the management, were identified. The overall success rate for the use of B-Lynch compression sutures alone to prevent hysterectomy was 23/35 (66%), and the success rate of compression sutures in conjunction with other surgical procedures was 26/35 (74%). This reported success rate appeared lower than that reported in the literature. Uterine compression was an effective method for the management of massive postpartum haemorrhage in approximately 70% of cases, and could be used in conjunction with other interventions to increase its success rate in terms of avoiding hysterectomy.

  8. Cognitive and speech-language performance in children with ataxia telangiectasia.

    Science.gov (United States)

    Vinck, Anja; Verhagen, Mijke M M; Gerven, Marjo van; de Groot, Imelda J M; Weemaes, Corry M R; Maassen, Ben A M; Willemsen, Michel A A P

    2011-01-01

    To describe cognitive and speech-language functioning of patients with ataxia-telangiectasia (A-T) in relation to their deteriorating (oculo)motor function. Observational case series. Cognitive functioning, language, speech and oral-motor functioning were examined in eight individuals with A-T (six boys, two girls), taking into account the confounding effects of motor functioning on test performance. All patients, except the youngest one, suffered from mild-to-moderate/severe intellectual impairment. Compared to developmental age, patients showed cognitive deficits in attention, (non)verbal memory and verbal fluency. Furthermore, dysarthria and weak oral-motor performance was found. Language was one of the patients' assets. In contrast to the severe deterioration of motor functioning in A-T, cognitive and language functioning appeared to level off with a typical profile of neuropsychological strengths and weaknesses. Based on our experiences with A-T, suggestions are made to determine a valid assessment of the cognitive and speech-language manifestations.

  9. A high frequency of distinct ATM gene mutations in ataxia-telangiectasia

    Energy Technology Data Exchange (ETDEWEB)

    Wright, J.; Teraoka, S.; Concannon, P. [Univ. of Washington School of Medicine, Seattle, WA (United States)] [and others

    1996-10-01

    The clinical features of the autosomal recessive disorder ataxia-telangiectasia (AT) include a progressive cerebellar ataxia, hypersensitivity to ionizing radiation, and an increased susceptibility to malignancies. Epidemiological studies have suggested that AT heterozygotes may also be at increased risk for malignancy, possibly as a consequence of radiation exposure. A gene mutated in AT patients (ATM) has recently been isolated, making mutation screening in both patients and the general population possible. Because of the relatively large size of the ATM gene, the design of screening programs will depend on the types and distribution of mutations in the general population. In this report, we describe 30 mutations identified in a panel of unrelated AT patients and controls. Twenty-five of the 30 were distinct, and most patients were compound heterozygotes. The most frequently detected mutation was found in three different families and had previously been reported in five others. This corresponds to a frequency of 8% of all reported ATM mutations. Twenty-two of the alterations observed would be predicted to lead to protein truncation at sites scattered throughout the molecule. Two fibroblast cell lines, which displayed normal responses to ionizing radiation, also proved to be heterozygous for truncation mutations of ATM. These observations suggest that the carrier frequency of ATM mutations may be sufficiently high to make population screening practical. However, such screening may need to be done prospectively, that is, by searching for new mutations rather than by screening for just those already identified in AT families. 33 refs., 1 fig., 1 tab.

  10. The role of fibrinogen and haemostatic assessment in postpartum haemorrhage

    DEFF Research Database (Denmark)

    Wikkelsø, Anne Juul

    2015-01-01

    describes the protocol for a RCT of early fibrinogen supplementation in women with severe postpartum haemorrhage. Several practical, ethical and trial management challenges need to be addressed when conducting independent clinical research involving parturients with severe bleeding, placebo......) and subsequent severity of bleeding. Fibrinogen concentrate may be prescribed to correct acquired hypofibrinogenaemia, but evidence is lacking regarding the treatment efficacy. This thesis assesses the current evidence for the use of fibrinogen concentrate and haemostatic assessment in bleeding patients...... with special attention to the obstetrical population. It includes five papers: In Paper I the benefits or harms of fibrinogen concentrate in bleeding patients in general was evaluated using a systematic Cochrane review methodology with metaanalysis of all published randomized controlled trials (RCTs). Six...

  11. Effectiveness of Per Rectal Misoprostol Versus Intramuscular Oxytocin for Prevention of Primary Postpartum Haemorrhage.

    Science.gov (United States)

    Asmat, Raheela; Ashraf, Tasneem; Asmat, Fazila; Asmat, Shakila; Asmat, Nagina

    2017-01-01

    To compare the effectiveness of per rectal misoprostol over oxytocin in primary postpartum haemorrhage (PPH). Randomised controlled trial study. Gynaecology and Obstetrics Department, Unit IV, Bolan Medical Complex Hospital, Quetta, from September 2013 to February 2014. Emergency obstetric patients receiving per rectal misoprostol (800 µgm) were named as group 'A' and those receiving 10 units oxytocin intramuscularly were labelled as group 'B'. The patients were followed within 24 hours of spontaneous vaginal deliveries. Pads soaked were used to assess the amount of blood loss. A total of 1,678 patients were included in the study. The mean age of patients in group-A was 29.11 years while the mean age of patients in group-B was 29.16 years. One hundred and twenty-three (14.66%) patients in group-A and 120 (14.31%) patients in group-B had PPH. Among the total 1,678 patients, 243 (14.49%) had postpartum haemorrhage among whom 24 (9.88%) had major haemorrhage with a blood loss ≥1000 mL. Among the sub-group (839 patients) administered misoprostol had 123 (14.66%) patients with blood loss greater than 500 mL and the rest 716 patients (85.34%) had blood loss less than 500 mL. The sub-group administered oxytocin have 120 (14.31%) out of 839 patients with postpartum haemorrhage while 719 (85.69%) had blood loss less than 500 mL. Active management of 3rd stage of labour with per rectal misoprostol administration was as effective as intramuscular oxytocin. Both were equally effective to reduce PPH and the subsequent need for surgical interventions.

  12. Brain glucose metabolism in adults with ataxia-telangiectasia and their asymptomatic relatives.

    Science.gov (United States)

    Volkow, Nora D; Tomasi, Dardo; Wang, Gene-Jack; Studentsova, Yana; Margus, Brad; Crawford, Thomas O

    2014-06-01

    Ataxia-telangiectasia is a recessive genetic disorder (ATM is the mutated gene) of childhood with severe motor impairments and whereas homozygotes manifest the disorder, heterozygotes are asymptomatic. Structural brain imaging and post-mortem studies in individuals with ataxia-telangiectasia have reported cerebellar atrophy; but abnormalities of motor control characteristic of extrapyramidal dysfunction suggest impairment of broader motor networks. Here, we investigated possible dysfunction in other brain areas in individuals with ataxia-telangiectasia and tested for brain changes in asymptomatic relatives to assess if heterozygocity affects brain function. We used positron emission tomography and (18)F-fluorodeoxyglucose to measure brain glucose metabolism (quantified as µmol/100 g/min), which serves as a marker of brain function, in 10 adults with ataxia-telangiectasia, 19 non-affected adult relatives (12 siblings, seven parents) and 29 age-matched healthy controls. Statistical parametric mapping and region of interest analyses were used to compare individuals with ataxia-telangiectasia, asymptomatic relatives, and unrelated controls. We found that participants with ataxia-telangiectasia had lower metabolism in cerebellar hemispheres (14%, P brain stimulation. Our finding of decreased metabolism in vermis and hippocampus of asymptomatic relatives suggests that heterozygocity influences the function of these brain regions. Published by Oxford University Press on behalf of the Guarantors of Brain 2014. This work is written by US Government employees and is in the public domain in the US.

  13. The use of crisis medication in the management of terminal haemorrhage due to incurable cancer: a qualitative study.

    Science.gov (United States)

    Harris, D G; Finlay, I G; Flowers, S; Noble, S I R

    2011-10-01

    Terminal haemorrhage is a rare but devastating event that may occur in certain advanced cancers. The focus of management involves administration of 'crisis medicine' with the intention of relieving patient distress through sedative doses of anxiolytics or opioids. This practice, whilst widely accepted, is based on limited evidence and has never been formally evaluated. To evaluate the utility of crisis medication in the management of terminal haemorrhage, through the experiences of nurses who had personally managed such events. Semi-structured interviews exploring the experiences of palliative care and head and neck oncology nurses were recorded, transcribed verbatim and analysed using interpretative phenomenological analysis. Saturation of themes occurred after interviewing 11 nurses with cumulative experience of managing 37 terminal haemorrhages. Participants reported crisis medication to have little, if any, role in the management of terminal haemorrhage, which was such a rapid event that patients died before it could be administered. As many events had not been predicted, anticipatory prescribing of crisis medication did not always occur. Staying with and supporting the patient, and using dark-coloured towels to camouflage blood were reported to be of more practical use. A focus on accessing crisis medicines had often been to the detriment of these simple yet beneficial measures. Anticipatory prescribing of crisis medication rarely benefits the patient and may unintentionally detract from nursing care. Guidelines on the management of terminal haemorrhage should reconsider the emphasis on crisis medication and focus on non-pharmacological approaches to this invariably fatal event.

  14. Medida da diferença artério-venosa de oxigênio na monitorização de pacientes com hemorragia subaracnóidea por aneurisma cerebral Measurement of arteriovenous oxygen difference in the monitoring of patients with subarachnoid haemorrhage due to cerebral aneurysm

    Directory of Open Access Journals (Sweden)

    Ronaldo Sérgio Santana Pereira

    1997-01-01

    Full Text Available A diferença artério-venosa de oxigênio (DAVO2, pelo fato de estar relacionada com o metabolismo cerebral, reflete alterações que ocorrem em determinadas situações patológicas, entre elas as causadas pela hemorragia subaracnóidea espontânea (HSAE. Com a finalidade de avaliar a relação entre alterações na DAVO2 com o quadro clínico e a evolução de pacientes com HSAE, devido à ruptura de aneurisma cerebral, este método foi utilizado em 30 pacientes portadores desta patologia, admitidos na Unidade de Neurocirurgia do HBDF. A HSAE foi confirmada por CT de crânio em 17 pacientes e por punção lombar em 13. Dezoito pacientes foram admitidos com Hunt & Hess (H&H I ou II, sete com H&H III e cinco com H&H IV ou V. A medida da DAVO2 baseou-se na equação de Fick e os resultados clínicos foram avaliados pela escala de seqüelas de Glasgow. Dezenove pacientes apresentaram DAVO2 normais (inicialmente e durante a evolução, sendo que três faleceram; cinco tiveram valores de DAVO2 sempre baixos e três faleceram; os restantes seis pacientes tiveram valores da DAVO2 sempre elevados e dois faleceram. Os pacientes com DAVO2 normais tiveram melhor evolução clínica e índice de mortalidade menor, quando comparados com os pacientes com valores anormais da DAVO2 (pThe arterious venous oxygen difference (AVDO2 due to the close relationship with cerebral metabolic rate of oxygen and cerebral blood flow shows metabolic alterations that occur in some pathological situations in the brain including subarachnoid haemorrhage. The AVDO2 was calculated by the Fick equation and the results evaluated by the Glasgow outcome scale. Measurements of arteriojugular oxygen difference were carried out in 30 patients with subarachnoid haemorrhage due to rupture of intracranial aneurysms, as an attempt to monitor the relationship between changes in AVDO2, clinical picture, and evolution of the patients. The subarachnoid haemorrhage was diagnosed by CT scan in

  15. Liver involvement in hereditary hemorrhagic telangiectasia: can breath test unmask impaired hepatic first-pass effect?

    Science.gov (United States)

    Candelli, Marcello; Pompili, Maurizio; Suppressa, Patrizia; Lenato, Gennaro M; Bosco, Giulia; Rapaccini, Gian Ludovico; Gasbarrini, Antonio; Scardapane, Arnaldo; Sabbà, Carlo

    2012-08-01

    Hepatic arteriovenous malformations (HAVMs) in hereditary hemorrhagic telangiectasia (HHT) have long been considered to have scarce clinical significance in most cases. Nevertheless, data are lacking regarding the influence of HAVMs on the liver first-pass effect on drugs in HHT patients. To gain insight into the effect of HAVMs on hepatic drug clearance by means of two specific (13)C-labeled probes, namely the (13)C-methacetin and (13)C-aminopyrine, 46 HHT patients and 44-matched healthy controls were enrolled. The liver first-pass effect was studied by the (13)C-based breath test using methacetin and aminopyrine. The methacetin breath test showed statistically significant reduced metabolism rates (p test values are significantly lower than those found in normal subjects, probably due to the effect of hepatic shunts. A reduced perfusion and an impaired hepatic metabolism might affect hepatic drug clearance in HHT. Therefore, an appropriate dosage adjustments should be considered when high-hepatic-metabolism drugs are administered to HHT patients.

  16. Control of cell respiration by nitric oxide in Ataxia Telangiectasia lymphoblastoid cells.

    Science.gov (United States)

    Masci, Alessandra; Mastronicola, Daniela; Arese, Marzia; Piane, Maria; De Amicis, Andrea; Blanck, Thomas J J; Chessa, Luciana; Sarti, Paolo

    2008-01-01

    Ataxia Telangiectasia (AT) patients are particularly sensitive to oxidative-nitrosative stress. Nitric oxide (NO) controls mitochondrial respiration via the reversible inhibition of complex IV. The mitochondrial response to NO of AT lymphoblastoid cells was investigated. Cells isolated from three patients and three intrafamilial healthy controls were selected showing within each group a normal diploid karyotype and homogeneous telomere length. Different complex IV NO-inhibition patterns were induced by varying the electron flux through the respiratory chain, using exogenous cell membrane permeable electron donors. Under conditions of high electron flux the mitochondrial NO inhibition of respiration was greater in AT than in control cells (P< or =0.05). This property appears peculiar to AT, and correlates well to the higher concentration of cytochrome c detected in the AT cells. This finding is discussed on the basis of the proposed mechanism of reaction of NO with complex IV. It is suggested that the peculiar response of AT mitochondria to NO stress may be relevant to the mitochondrial metabolism of AT patients.

  17. Intravitreal ranibizumab and laser photocoagulation in the management of idiopathic juxtafoveolar retinal telangiectasia type 1: a case report.

    Science.gov (United States)

    Ciarnella, Angela; Verrilli, Sara; Fenicia, Vito; Mannino, Cristina; Cutini, Alessandro; Perdicchi, Andrea; Recupero, Santi Maria

    2012-09-01

    Idiopathic juxtafoveolar retinal telangiectasia (IJRT) type 1 represents an uncommon cause of congenital unilateral visual loss and it typically affects males. Decrease in visual acuity is caused by serous and lipid exudation into the fovea with cystoid macular edema. In some cases, spontaneous resolution may be observed, but when there is a progressive loss of visual acuity, laser photocoagulation is often necessary. This treatment is not always successful and therapy for this condition is still controversial. A 57-year-old man referred a 2-month history of blurred and distorted vision in the right eye. Best-corrected visual acuity was 20/50 in the right eye and 20/20 in the left eye. Fundus examination showed temporal macular edema, confirmed by optical coherence tomography. Fluorescein angiography showed a localized area of hyperfluorescence probably due to telangiectasia type 1 located below the inferior temporal area of the fovea. A combined therapy of intravitreal ranibizumab injection and laser photocoagulation was performed. Visual acuity improved from 20/50 to 20/32 and the therapy was well tolerated by the patient. After 3 years of follow-up, both visual acuity and fundus examination were stable. This case suggests that the combined use of ranibizumab and laser photocoagulation may be considered an effective treatment for JRT type 1, leading to an improvement in both visual acuity and macular edema. We believe that intravitreal ranibizumab injection associated with laser photocoagulation should be considered as treatment for IJRT type 1.

  18. Ataxia telangiectasia mutated-dependent regulation of topoisomerase II alpha expression and sensitivity to topoisomerase II inhibitor.

    Science.gov (United States)

    Tamaichi, Hiroyuki; Sato, Masaki; Porter, Andrew C G; Shimizu, Toshiaki; Mizutani, Shuki; Takagi, Masatoshi

    2013-02-01

    Topoisomerase II alpha (TOP2A) has a crucial role in proper chromosome condensation and segregation. Here we report the interaction of TOP2A with ataxia telangiectasia mutated (ATM) and its phosphorylation in an ATM-dependent manner after DNA damage. In vitro kinase assay and site-directed mutagenesis studies revealed that serine 1512 is the target of phosphorylation through ATM. Serine 1512 to Alanine mutation of TOP2A showed increased stability of the protein, retaining TOP2A activity at least with regard to cell survival activity. Ataxia telangiectasia-derived cell lines showed high levels of TOP2A that were associated with hypersensitivity to the TOP2 inhibitor etoposide. These findings suggest that ATM-dependent TOP2A modification is required for proper regulation of TOP2 stability and subsequently of the sensitivity to TOP2 inhibitor. In a lymphoblastoid cell line derived from a patient who developed MLL rearrangement, positive infant leukemia, defective ATM expression, and increased TOP2A expression were shown. It was intriguing that hypersensitivity to TOP2 inhibitor and susceptibility to MLL gene rearrangement were shown by low-dose etoposide exposure in this cell line. Thus, our findings have clinically important implications for the pathogenesis of infantile acute leukemia as well as treatment-associated secondary leukemia following exposure to TOP2 inhibitors. © 2012 Japanese Cancer Association.

  19. Severe Crimean-Congo haemorrhagic fever presented with massive retroperitoneal haemorrhage that recovered without antiviral treatment

    DEFF Research Database (Denmark)

    Gharabaghi, Mehrnaz Asadi; Chinikar, Sadegh; Ghiasi, Seyyed Mojtaba

    2011-01-01

    Crimean-Congo haemorrhagic fever (CCHF) is a tickborne viral zoonosis with up to 50% mortality in humans caused by CCHF virus belonging to the genus Nairovirus, family Bunyaviridae. The geographical distribution of CCHF cases corresponds closely with the distribution of principle tick vectors...

  20. Late cerebral ischaemia after subarachnoid haemorrhage

    DEFF Research Database (Denmark)

    Edvinsson, L; Povlsen, G K

    2011-01-01

    Late cerebral ischaemia after subarachnoid haemorrhage (SAH) carries high morbidity and mortality because of reduced cerebral blood flow (CBF) and subsequent cerebral ischaemia. This is associated with upregulation of contractile receptors in cerebral artery smooth muscles via the activation...... their sensitivity to endogenous agonists such as ET-1 and 5-HT by increasing their smooth muscle expression of receptors for these after SAH. This is associated with reduced CBF and neurological deficits. A number of signal transduction components mediating this receptor upregulation have been identified, including...

  1. European research priorities for intracerebral haemorrhage

    DEFF Research Database (Denmark)

    Steiner, Thorsten; Petersson, Jesper; Al-Shahi Salman, Rustam

    2011-01-01

    . No standardised diagnostic workup for the detection of the various underlying causes of ICH currently exists, and the evidence for medical or surgical therapeutic interventions remains limited. A dedicated European research programme for ICH is needed to identify ways to reduce the burden of ICH-related death...... and disability. The European Research Network on Intracerebral Haemorrhage EURONICH is a multidisciplinary academic research collaboration that has been established to define current research priorities and to conduct large clinical studies on all aspects of ICH....

  2. Uterine arteriovenous malformation--a rare cause of uterine haemorrhage.

    Science.gov (United States)

    Manolitsas, T; Hurley, V; Gilford, E

    1994-05-01

    Uterine arteriovenous malformation (AVM) is a rare cause of massive uterine bleeding, with 70 cases reported in the English literature. Although uterine AVM is a rare cause of menorrhagia or postmenopausal bleeding, it is important to consider in the assessment of a patient with abnormal (especially heavy) uterine bleeding because accurate diagnosis can allow appropriate treatment to be planned and avoid hysterectomy in women who wish to retain their reproductive capacity. Until relatively recently this condition was difficult to diagnose and management almost always required hysterectomy. Special investigations (hysteroscopy, Doppler flow ultrasound and pelvic angiography) are important for diagnosis and assessment. Transcatheter embolization has replaced hysterectomy as the treatment of choice in women who wish to retain their fertility. Curettage may precipitate life-threatening haemorrhage and is therefore contraindicated when uterine AVM is suspected.

  3. Pre-emptive treatment with fibrinogen concentrate for postpartum haemorrhage

    DEFF Research Database (Denmark)

    Wikkelsø, A J; Edwards, H M; Afshari, A

    2015-01-01

    BACKGROUND: In early postpartum haemorrhage (PPH), a low concentration of fibrinogen is associated with excessive subsequent bleeding and blood transfusion. We hypothesized that pre-emptive treatment with fibrinogen concentrate reduces the need for red blood cell (RBC) transfusion in patients...... and the fibrinogen concentration at inclusion. The primary outcome was RBC transfusion up to 6 weeks postpartum. Secondary outcomes were total blood loss, total amount of blood transfused, occurrence of rebleeding, haemoglobin ... concentrate, thereby significantly increasing fibrinogen concentration compared with placebo by 0.40 g litre(-1) (95% confidence interval, 0.15-0.65; P=0.002). Postpartum blood transfusion occurred in 25 (20%) of the fibrinogen group and 26 (22%) of the placebo group (relative risk, 0.95; 95% confidence...

  4. [Haemorrhagic exanthema due to dengue virus induced by acetylsalicylic acid].

    Science.gov (United States)

    Valerio, L; de Balanzó, X; Jiménez, O; Pedro-Bolet, M L

    2006-01-01

    Dengue fever, a viral infectious disease characteristic of tropical climates, is considered to be a re-emergent pathology responsible for several serious outbreaks in the last decade. Some factors have been involved in the spread of the virus and its vectorial mosquito carrier: human alteration of the ecosystems, improvement and speed in the transit of goods and people and climate changes. As a reflection of this, an increase in imported cases is probable, especially in tourists coming from endemic areas, considering its short period of incubation (7-10 days). The recognition of personal antecedents of journeys, the main symptoms of the disease and the potential presence of complications (haemorrhagic dengue) should be included in the examination of fever of unknown origin or feverish exanthema. The case of a patient is presented whose clinical picture of classic dengue fever was worsened by self-treatment with acetylsalicylic acid.

  5. Crimean-Congo Haemorrhagic Fever in Kosova : a fatal case report

    Directory of Open Access Journals (Sweden)

    Raka Lul

    2006-10-01

    Full Text Available Abstract Crimean-Congo haemorrhagic fever (CCHF is an often fatal viral infection described in about 30 countries around the world. The authors report a fatal case of Crimean-Congo hemorrhagic fever (CCHF observed in a patient from Kosova. The diagnosis of CCHF was confirmed by reverse transcription-PCR. Late diagnosis decreased the efficacy of treatment and patient died due to severe complications of infection.

  6. Crystalline deposits in the macula - tamoxifen maculopathy or macular telangiectasia?

    Science.gov (United States)

    Rijal, Roshija Khanal; Nakhwa, Chinmay; Sindal, Manavi D

    2014-01-01

    Tamoxifen citrate is an anti-estrogen agent used in the treatment of breast carcinoma. Crystalline maculopathy is a rare complication of tamoxifen therapy. The clinical picture resembles that of idiopathic macular telangiectasia (IMT) Type 2, which is a more common clinical entity. To report a case of crystalline maculopathy secondary to tamoxifen and highlight the importance of the medical history and investigations in differentiating it from IMT Type 2. A diabetic female with a past history of breast carcinoma treated with tamoxifen came to the hospital for a routine eye check-up. Crystalline deposits were seen in the parafoveal region in both the eyes.The spectral domain optical coherence tomography (SD-OCT) showed foveal cysts in the inner retinal layer and fundus autofluorescence (FAF) and fundus fluorescein angiography (FFA) were within normal limits. While tamoxifen maculopathy is reversible on stopping the therapy, IMT needs a long-term follow-up to monitor the potential risk of loss of vision due to choroidal neovascularization, hence necessitating the distinction between these two different clinical entities.

  7. Chromosome aberrations in ataxia telangiectasia cells exposed to heavy ions

    Science.gov (United States)

    Kawata, T.; Cucinotta, F.; George, K.; Wu, H.; Shigematsu, N.; Furusawa, Y.; Uno, T.; Isobe, K.; Ito, H.

    Understanding of biological effects of heavy ions is important to assess healt h risk in space. One of the most important issues may be to take into account individual susceptibility. Ataxia telangiectasia (A-T) cells are known to exhibit abnormal responses to radiations but the mechanism of hyper radiosensitivity of A-T still remains unknown. We report chromosome aberrations in normal human fibroblasts and AT fibroblasts exposed to low- and high-LET radiations. A chemical-induced premature chromosome condensation (PCC) technique combined with chromosome- painting technique was applied to score chromosome aberrations in G2/M-phase cells. Following gamma irradiation, GM02052 cells were approximately 5 times more sensitive to g-rays than AG1522 cells. GM02052 cells had a much higher frequency of deletions and misrejoining than AG1522 cells. When the frequency of complex type aberrations was compared, GM02052 cells showed more than 10 times higher frequency than AG1522 cells. The results will be compared with those obtained from high-LET irradiations.

  8. Pulmonary function in children and young adults with ataxia telangiectasia.

    Science.gov (United States)

    McGrath-Morrow, Sharon A; Lederman, Howard M; Aherrera, Angela D; Lefton-Greif, Maureen A; Crawford, Thomas O; Ryan, Timothy; Wright, Jennifer; Collaco, Joseph M

    2014-01-01

    Pulmonary disease contributes to significant morbidity and mortality in people with ataxia telangiectasia (A-T). To determine the association between age and lung function in children and young adults with A-T and to identify factors associated with decreased lung function, pulmonary function tests were performed in 100 consecutive people with A-T. Children and adults ranging from 6 to 29 years of age and with the diagnosis of A-T were recruited, and underwent pulmonary function tests. The mean forced vital capacity % predicted (FVC %) in the population was 56.6 ± 20.0. Males and females between 6 and 10 years of age had similar pulmonary function. Older females were found to have significantly lower FVCs % than both older males (P pulmonary function testing on two or more occasions over an average of 2 years. In children and young adults with A-T, older females and people who required supplemental gamma globulin had significantly lower lung function by cross-sectional analysis. Stable lung function is possible over a 2-year period. Recognition of groups who are at higher risk for lower pulmonary function may help direct care and improve clinical outcomes in people with A-T. © 2013 Wiley Periodicals, Inc.

  9. Massive Haemorrhagic Ascites and Pleural effusion: An Unusual ...

    African Journals Online (AJOL)

    The association between endometriosis and haemorrhagic (bloody) ascites is rare.Since its first description by Brews in 1954,only a few sporadic cases have been reported in the literature. We report a case of massive haemorrhagic ascites associated with right-sided pleural effussion.Therapeutic paracentesis of eight litres ...

  10. Surveillance of viral haemorrhagic fevers in Ghana: entomological ...

    African Journals Online (AJOL)

    Results: A total of 2804 households were surveyed to estimate larval indices and man-vector contacts of potential vectors of viral haemorrhagic fevers such as Yellow fever and ... variations and the dry season was identified as the high-risk period for transmission of viral haemorrhagic fevers and possible disease outbreaks.

  11. Postpartum Haemorrhage in a Secondary Level Health Care Centre ...

    African Journals Online (AJOL)

    Background: Postpartum haemorrhage [PPH] is a major cause of maternal morbidity and mortality in Nigeria. Some women are at greater risk of postpartum haemorrhage than others. Obstetric care is provided at three levels of care in Nigeria; primary, secondary and tertiary (specialist care) levels, with substantial difference ...

  12. Primary postpartum haemorrhage at the university of Port Harcourt ...

    African Journals Online (AJOL)

    Background: Postpartum haemorrhage (PPH) is a leading global cause of severe maternal morbidity and mortality. Approximately 14 million women suffer postpartum haemorrhage annually and at least 128,000 of these women bleed to death. Most of these deaths, which occur within four hours of delivery and are as a ...

  13. Ataxia telangiectasia mutated inhibits oxidative stress-induced apoptosis by regulating heme oxygenase-1 expression.

    Science.gov (United States)

    Yu, Ji Hoon; Cho, Soon Ok; Lim, Joo Weon; Kim, Nanhee; Kim, Hyeyoung

    2015-03-01

    Ataxia telangiectasia (AT) is caused by mutational inactivation of the ataxia telangiectasia mutated (Atm) gene, which is involved in DNA repair. Increased oxidative stress has been shown in human AT cells and neuronal tissues of Atm-deficient mice. Heme oxygenase-1 (HO-1) is an inducible antioxidant enzyme and protects cells against oxidative stress. The purpose of this study is to determine whether ATM induces antioxidant enzyme HO-1 and protects cells from oxidative stress-mediated apoptosis by driving the activation of PKC-δ and NF-κB, by increasing cell viability, and by downregulating DNA fragmentation and apoptotic indicators (apoptosis-inducing factor and cleaved caspase-3). AT fibroblasts stably transfected with human full-length ATM cDNA (YZ5 cells) or the empty vector (MOCK cells) were treated with H2O2 as a source of reactive oxygen species (ROS). As a result, transfection with ATM inhibited ROS-induced cell death and DNA fragmentation in MOCK cells. Transfection with ATM induced expression of HO-1 which was mediated by PKC-δ and NF-κB in H2O2-treated MOCK cells. ZnPP, an HO-1 inhibitor, and transfection with HO-1 siRNA increased ROS levels and apoptosis, whereas hemin, an HO-1 activator, reduced ROS levels and apoptosis in H2O2-treated YZ5 cells. Rottlerin, a PKC-δ inhibitor, inhibited NF-κB activation and HO-1 expression in H2O2-treated YZ5 cells. MOCK cells showed increased cell death, DNA fragmentation, and apoptotic indicators compared to YZ5 cells exposed to H2O2. In addition, transfection with p65 siRNA increased ROS levels and DNA fragmentation, but decreased HO-1 protein levels in H2O2-treated YZ5 cells. In conclusion, ATM induces HO-1 expression via activation of PKC-δ and NF-κB and inhibits oxidative stress-induced apoptosis. A loss of HO-1 induction may explain why AT patients are vulnerable to oxidative stress. Copyright © 2015 Elsevier Ltd. All rights reserved.

  14. Pregnancy complicated by haemorrhagic ascites in a woman with newly diagnosed HIV.

    Science.gov (United States)

    Morgan, Catrin; Nicholls, Kate; Gangat, Nusraat; Sansome, Stafford

    2016-07-29

    A young pregnant Zambian woman was referred from a district hospital in South Zambia to the university teaching hospital, Lusaka with severe anaemia and ascites. The ascites had developed over a month and the woman was currently 15 weeks pregnant. Further workup revealed that the patient was HIV-positive and the ascitic tap showed haemorrhagic fluid. After being reviewed by multiple doctors, the cause of the haemorrhagic ascites remained unclear; therefore, the decision was made to do a laparotomy. The laparotomy revealed haemoperitoneum and a large cyst attached to the liver containing 5 L of bloodstained fluid. The histopathology report revealed features consistent with a giant haemangioma. There were many barriers to accessing optimum healthcare in this case. These included limited access to blood, poor communication resulting in the patient being unaware of her HIV status and lack of patient education about HIV. 2016 BMJ Publishing Group Ltd.

  15. The outbreak and control of Ebola viral haemorrhagic fever in a Ugandan medical school.

    Science.gov (United States)

    Bitekyerezo, Medard; Kyobutungi, Catherine; Kizza, Ruth; Mugeni, James; Munyarugero, Emmanuel; Tirwomwe, Francis; Twongyeirwe, Eunice; Muhindo, George; Nakibuuka, Victoria; Nakate, Maimuna; John, Laurence; Ruiz, Ana; Frame, Karen; Priotto, Gerardo; Pepper, Larry; Kabakyenga, Jerome; Baingana, Sheila; Ledo, Dennis

    2002-01-01

    Uganda has just experienced the largest outbreak of Ebola haemorrhagic fever (EHF) ever recorded. Mbarara University Teaching Hospital (MUTH) is responsible for training approximately one-third of Uganda's doctors. Mbarara is located in SouthWest Uganda, 614 km from Gulu, the main epicentre of the outbreak. On 23 October a patient was admitted to the medical ward of MUTH with an acute fever. He soon exhibited haemorrhagic symptoms and died. He was later confirmed to have suffered Ebola. Three more patients subsequently contracted the disease. All died. There were no further cases in Mbarara. No members of staff or medical student was infected. We give details of the clinical features of those patients who contracted the disease, the setting up of an Ebola isolation unit, the case surveillance and the search for the source of the outbreak. The implications for similar institutions in East Africa are discussed.

  16. Molecular diagnosis of Haemorrhagic Septicaemia - A Review

    Directory of Open Access Journals (Sweden)

    Ranjan Rajeev

    2011-08-01

    Full Text Available Pasteurella multocida is associated with hemorrhagic septicaemia in cattle and buffaloes, pneumonic pasteurellosis in sheep and goats, fowl cholera in poultry, atrophic rhinitis in pigs and snuffles in rabbits. Haemorrhagic septicaemia is caused by Pasteurella multocida type B:2, B:2,5 and B:5 in Asian countries and type E:2 in African countries. Pasteurella multocida have five types of capsular serotype i.e. type A, B, D, E and F. Diagnosis of the disease is mainly based on the clinical sign and symptom, post mortem findings. Confirmatory diagnosis is done by isolation and identification of causative agent. A variety of laboratory diagnostic techniques have been developed over the years for pasteurellosis and used routinely in the laboratory. Among these techniques molecular techniques of diagnosis is most important. This technique not only gives diagnosis but it also provides information regarding capsular type of Pasteurella multocida. Techniques which are used for molecular diagnosis of haemorrhagic septicaemia are PCR based diagnosis, Restriction endonuclease analysis (REA, Ribotyping, Colony hybridization assay, Filled alternation gel electrophoresis (FAGE, Detection of Pasteurella multocida by Real Time PCR. Among these techniques real time PCR is most sensitive and specific. [Vet. World 2011; 4(4.000: 189-192

  17. Caudate haemorrhage caused by pseudoaneurysm of accessory middle cerebral artery.

    Science.gov (United States)

    Teramoto, Shinichiro; Tokugawa, Joji; Nakao, Yasuaki; Yamamoto, Takuji

    2015-12-30

    A 68-year-old man experienced a right caudate haemorrhage with intraventricular haemorrhage. Although a subarachnoid haemorrhage was not shown clearly, our investigation demonstrated an aneurysm-like vascular pouch located in the anomalous vessel arising from the A2 segment of the right anterior cerebral artery. Rupture of the vascular pouch was considered to be the cause of the caudate haemorrhage. Neck clipping was performed. In intraoperative observation, the anomalous vessel was diagnosed as a right accessory middle cerebral artery. Histopathology of the saccular wall showed only an adventitia and a fibrin layer, indicating a pseudoaneurysm. We routinely perform detailed vascular evaluation for any cerebrovascular disease. A meticulous vascular survey makes it possible to obtain valuable clues in cases such as caudate haemorrhage due to pseudoaneurysm of the accessory middle cerebral artery, leading to prevention of rebleeding. 2015 BMJ Publishing Group Ltd.

  18. Soetomo score: score model in early identification of acute haemorrhagic stroke

    Directory of Open Access Journals (Sweden)

    Moh Hasan Machfoed

    2016-06-01

    Full Text Available Aim of the study: On financial or facility constraints of brain imaging, score model is used to predict the occurrence of acute haemorrhagic stroke. Accordingly, this study attempts to develop a new score model, called Soetomo score. Material and methods: The researchers performed a cross-sectional study of 176 acute stroke patients with onset of ≤24 hours who visited emergency unit of Dr. Soetomo Hospital from July 14th to December 14th, 2014. The diagnosis of haemorrhagic stroke was confirmed by head computed tomography scan. There were seven predictors of haemorrhagic stroke which were analysed by using bivariate and multivariate analyses. Furthermore, a multiple discriminant analysis resulted in an equation of Soetomo score model. The receiver operating characteristic procedure resulted in the values of area under curve and intersection point identifying haemorrhagic stroke. Afterward, the diagnostic test value was determined. Results: The equation of Soetomo score model was (3 × loss of consciousness + (3.5 × headache + (4 × vomiting − 4.5. Area under curve value of this score was 88.5% (95% confidence interval = 83.3–93.7%. In the Soetomo score model value of ≥−0.75, the score reached the sensitivity of 82.9%, specificity of 83%, positive predictive value of 78.8%, negative predictive value of 86.5%, positive likelihood ratio of 4.88, negative likelihood ratio of 0.21, false negative of 17.1%, false positive of 17%, and accuracy of 83%. Conclusions: The Soetomo score model value of ≥−0.75 can identify acute haemorrhagic stroke properly on the financial or facility constrains of brain imaging.

  19. Endovascular management of delayed post-pancreatectomy haemorrhage

    Energy Technology Data Exchange (ETDEWEB)

    Pottier, Edwige [Beaujon Hospital, University Hospitals Paris Nord Val de Seine, Department of Radiology, Clichy, Hauts-de-Seine (France); Ronot, Maxime; Vilgrain, Valerie [Beaujon Hospital, University Hospitals Paris Nord Val de Seine, Department of Radiology, Clichy, Hauts-de-Seine (France); University Paris Diderot, Paris (France); INSERM U1149, centre de recherche biomedicale Bichat-Beaujon, CRB3, Paris (France); Gaujoux, Sebastien; Cesaretti, Manuela; Barbier, Louise [APHP, University Hospitals Paris Nord Val de Seine, Beaujon, Department of Surgery, Clichy, Hauts-de-Seine (France); Sauvanet, Alain [University Paris Diderot, Paris (France); APHP, University Hospitals Paris Nord Val de Seine, Beaujon, Department of Surgery, Clichy, Hauts-de-Seine (France)

    2016-10-15

    To assess the patient outcome after endovascular treatment of delayed post-pancreatectomy haemorrhage (PPH) as first-line treatment. Between January 2005 and November 2013, all consecutive patients referred for endovascular treatment of PPH were included. Active bleeding, pseudoaneurysms, collections and the involved artery were recorded on pretreatment CT. Endovascular procedures were classified as technical success (source of bleeding identified on angiogram and treated), technical failure (source of bleeding identified but incompletely treated) and abstention (no abnormality identified, no treatment performed). Factors associated with rebleeding were analysed. Sixty-nine patients (53 men) were included (mean 59 years old (32-75)). Pretreatment CT showed 27 (39 %) active bleeding. In 22 (32 %) cases, no involved artery was identified. Technical success, failure and abstention were observed in 48 (70 %), 9 (13 %) and 12 patients (17 %), respectively. Thirty patients (43 %) experienced rebleeding. Rebleeding rates were 29 %, 58 % and 100 % in case of success, abstention and failure (p < 0.001). Treatment failure/abstention was the only factor associated with rebleeding. Overall, 74 % of the patients were successfully treated by endovascular procedure(s) alone. After a first endovascular procedure for PPH, the rebleeding rate is high and depends upon the success of the procedure. Most patients are successfully treated by endovascular approach(es) alone. (orig.)

  20. Assessment of impaired coordination between respiration and deglutition in children and young adults with ataxia telangiectasia

    Science.gov (United States)

    Lefton-Greif, Maureen A; Perlman, Adrienne L; He, Xuming; Lederman, Howard M; Crawford, Thomas O

    2016-01-01

    AIM This cross-sectional investigation aimed to assess the value of non-invasive measures of temporal respiratory–swallow coupling in individuals with ataxic swallowing. METHOD Twenty participants with ataxia telangiectasia were presented with water and pudding boluses. Their 193 swallows were compared with 2200 swallows from 82 age-matched healthy controls. The two components of airway protection during swallowing that were analyzed were: direction of peri-deglutitive airflow and duration of deglutitive inhibition of respiratory airflow (DIORA). RESULTS Safe expiratory patterns of peri-deglutitive airflow occurred significantly less often in participants with ataxia telangiectasia than in age-matched control participants (younger pataxia telangiectasia (p=0.234). With age, mean duration of DIORA decreased in controls (pataxia telangiectasia (p=0.164). INTERPRETATION Non-invasive quantitative measures of respiratory–swallow coupling capture temporal relationships that plausibly contribute to airway compromise from dysphagia. Changes in respiratory–swallow coupling observed with advancing age in control participants were not seen in participants with ataxia telangiectasia. Measures of perturbations may herald swallowing problems prior to development of pulmonary and nutritional sequelae. PMID:27214374

  1. Assessment of impaired coordination between respiration and deglutition in children and young adults with ataxia telangiectasia.

    Science.gov (United States)

    Lefton-Greif, Maureen A; Perlman, Adrienne L; He, Xuming; Lederman, Howard M; Crawford, Thomas O

    2016-10-01

    This cross-sectional investigation aimed to assess the value of non-invasive measures of temporal respiratory-swallow coupling in individuals with ataxic swallowing. Twenty participants (11 males, 9 females; range 9-21y) with ataxia telangiectasia were presented with water and pudding boluses. Their 193 swallows were compared with 2200 swallows from 82 age-matched healthy controls. The two components of airway protection during swallowing that were analyzed were: direction of peri-deglutitive airflow and duration of deglutitive inhibition of respiratory airflow (DIORA). Safe expiratory patterns of peri-deglutitive airflow occurred significantly less often in participants with ataxia telangiectasia than in age-matched control participants (younger pdeglutitive airflow increased with age in participants in the comparison group (p=0.006), but not in those with ataxia telangiectasia (p=0.234). With age, mean duration of DIORA decreased in controls (p<0.001) but was unchanged in participants with ataxia telangiectasia (p=0.164). Non-invasive quantitative measures of respiratory-swallow coupling capture temporal relationships that plausibly contribute to airway compromise from dysphagia. Changes in respiratory-swallow coupling observed with advancing age in control participants were not seen in participants with ataxia telangiectasia. Measures of perturbations may herald swallowing problems prior to development of pulmonary and nutritional sequelae. © 2016 Mac Keith Press.

  2. ROLE OF HYSTEROSCOPY IN THE MANAGEMENT OF SECONDARY POSTPARTUM HAEMORRHAGE

    Directory of Open Access Journals (Sweden)

    Krupa Patalay

    2016-03-01

    Full Text Available INTRODUCTION Secondary postpartum haemorrhage [PPH] or puerperal haemorrhage, though rare can sometimes cause severe morbidity needing prolonged hospitalisation. Majority of the cases can be managed medically, a few of them requiring surgical interventions. With retained placental tissue being a common cause, emptying the uterus in the puerperium can be difficult and dangerous too as the wall is soft and perforation chances are high. Hysteroscopic evaluation of the puerperal uterus gives us a better picture of the retained bits of placental tissue, and helps in complete evacuation of the tissue without causing much trauma to the fragile uterine wall. It is also more specific than ultrasonogram [USG] to rule out the presence of retained tissue. MATERIAL AND METHODS 17 patients who had secondary PPH and did not respond to the initial medical management were included in the study. Hysteroscopy was done in these cases. Definitive pathology was found in 12 cases; 7 cases had polypoidal tissue [retained bits of placenta], 3 cases had placental tissue adherent to the caesarean scar [placenta accreta] and 2 cases had submucous fibroids. RESULTS In cases which had retained placental bits, the tissue could be visualised, its exact location noted and the entire tissue could be removed without inciting much trauma to the uterine wall. In cases with placenta accreta, gentle extraction of the adherent tissue could be done without traumatising the scar. In one case which had multiple fibroids with irregular uterine cavity, hysteroscopy helped in localising the retained tissue. CONCLUSION Hysteroscopy is a useful modality in managing cases of secondary PPH, who have persistent bleeding in the postpartum period.

  3. A single ataxia telangiectasia gene with a product similar to PI-3 kinase

    Energy Technology Data Exchange (ETDEWEB)

    Savitsky, K.; Bar-Shira, A.; Gilad, S.; Rotman, G.; Ziv, Y.; Vanagaite, L.; Smith, S.; Uziel, T.; Sfez, S.; Ashkenazi, M. [Tel Aviv Univ. (Israel)] [and others

    1995-06-23

    A gene, ATM, that is mutated in the autosomal recessive disorder ataxia telangiectasia (AT) was identified by positional cloning on chromosome 11q22-23. AT is characterized by cerebellar degeneration, immunodeficiency, chromosomal instability, cancer predisposition, radiation sensitivity, and cell cycle abnormalities. The disease is genetically heterogeneous, with four complementation groups that have been suspected to represent different genes. ATM, which has a transcript of 12 kilobases, was found to be mutated in AT patients from all complementation groups, indicating that it is probably the sole gene responsible for this disorder. A partial ATM complementary DNA clone of 5.9 kilobases encoded a putative protein that is similar to several yeast and mammalian phosphatidylinositol-3{prime} kinases that are involved in mitogenic signal transduction, meiotic recombination, and cell cycle control. The discovery of ATM should enhance understanding of AT and related syndromes and may allow the identification of AT heterozygotes, who are at increased risk of cancer. 54 refs., 5 figs., 1 tab.

  4. Hereditary Hemorrhagic Telangiectasia, a Vascular Dysplasia Affecting the TGF-β Signaling Pathway

    Science.gov (United States)

    Fernández-L, Africa; Sanz-Rodriguez, Francisco; Blanco, Francisco J.; Bernabéu, Carmelo; Botella, Luisa M.

    2006-01-01

    Hereditary hemorrhagic telangiectasia (HHT) is caused by mutations in endoglin (ENG; HHT1) or ACVRL1/ALK1 (HHT2) genes and is an autosomal dominant vascular dysplasia. Clinically, HHT is characterized by epistaxis, telangiectases and arteriovenous malformations in some internal organs such as the lung, brain or liver. Endoglin and ALK1 proteins are specific endothelial receptors of the transforming growth factor (TGF)-β superfamily that are essential for vascular integrity. Genetic studies in mice and humans have revealed the pivotal role of TGF-β signaling during angiogenesis. Through binding to the TGF-β type II receptor, TGF-β can activate two distinct type I receptors (ALK1 and ALK5) in endothelial cells, each one leading to opposite effects on endothelial cell proliferation and migration. The recent isolation and characterization of circulating endothelial cells from HHT patients has revealed a decreased endoglin expression, impaired ALK1- and ALK5-dependent TGF-β signaling, disorganized cytoskeleton and the failure to form cord-like structures which may lead to the fragility of small vessels with bleeding characteristic of HHT vascular dysplasia or to disrupted and abnormal angiogenesis after injuries and may explain the clinical symptoms associated with this disease. PMID:16595794

  5. Genetic heterogeneity in hereditary hemorrhagic telangiectasia: Possible correlation with clinical phenotype

    Energy Technology Data Exchange (ETDEWEB)

    Papenberg, K.A.; Lennon, F.; Helmbold, E.A. [and others

    1994-09-01

    Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant generalized vascular dysplasia characterized by recurrent hemorrhage. Our initial linkage studies found an HHT gene to be localized to 9q3 in two large kindreds. In the present study, we have examined an additional five unrelated HHT families. The multipoint linkage analysis in this region resulted in a peak multipoint lod score of 13.03. Two additional proximal crossovers in affected individuals in one of these families have now further defined the candidate region on 9q3. In addition, significant evidence for heterogeneity of HHT found. The multipoint analysis supported the two-point studies with the odds of 3,000,000: 1 showing linkage and heterogeneity over linkage and homogeneity. Four of the seven families gave a posterior probability of > 99% of being of the linked type, while three families are unlinked to this region of 9q. The multipoint lod score using only the linked families is 21.70. Finally, a possible correlation in clinical phenotype between the 9q3-linked families and unlinked families is described. Although six of the seven families clearly meet the clinical criteria for HHT diagnosis, a significant absence of PAVMs is seen in all 9q3-unlinked families. This genetic heterogeneity and possible correlation to a clinical phenotype may have a significant impact on the clinical management and treatment of HHT patients.

  6. Quantitative evaluation of brain involvement in ataxia telangiectasia by diffusion weighted MR imaging

    Energy Technology Data Exchange (ETDEWEB)

    Firat, Ahmet Kemal [Inonu University Medical Faculty, Turgut Ozal Medical Center, Department of Radiology, Malatya 44280 (Turkey); Karakas, Hakki Muammer [Inonu University Medical Faculty, Turgut Ozal Medical Center, Department of Radiology, Malatya 44280 (Turkey)]. E-mail: hkarakas@inonu.edu.tr; Firat, Yezdan [Inonu University Medical Faculty, Turgut Ozal Medical Center, Department of Otorhinolaryngology, Malatya (Turkey); Yakinci, Cengiz [Inonu University Medical Faculty, Turgut Ozal Medical Center, Department of Pediatrics, Malatya (Turkey)

    2005-11-01

    Objective: To evaluate the value of diffusion weighted imaging (DWI) in diagnosing ataxia telangiectasia (AT) and to investigate the spatial distribution of cerebral microstructural changes caused by the disease. Methods: Six AT patients (9-13 years) and nine healthy control subjects were examined on 1.5 T scanner. In addition to conventional MR images, DWI were performed with a fat suppressed, multishot spin echo EPI sequence using B values of 0, 500 and 1000 s/mm{sup 2}. Mean ADC values were measured from 16 different supra and infratentorial location. The difference between controls and AT patients regarding ADC values, and the accuracy, sensitivity and specificity of them in discrimination were analyzed with t-tests, logistic regression analysis, ANOVA and ROC curves. Results: Conventional images of the controls were normal. In AT patients, the only conventional MR abnormality was cerebellar atrophy. The difference between both groups regarding mean ADC values was not significant for any of the cerebral structures. In contrary to cerebrum, cerebellar mean ADC values of patients and controls were statistically different (p < 0.011-0.0001). Patients and controls were classified with 100% accuracy using ADC values of cerebellar white matter and cortex together (p < 0.016). The cut-off ADC value (0.699 mm{sup 2}/s) for middle cerebellar cortex had produced highest (100%) sensitivity and specificity. There was a difference between superior, middle and inferior cerebellar cortex regarding ADC values (p < 0.026). Superior cerebellar cortex (0.987 {+-} 0.1956 mm{sup 2}/s) had higher ADC values than the middle and inferior cerebellar cortex. Conclusion: DWI provides a supplementary and objective imaging finding in AT. This finding is highly accurate in the radiological discrimination of healthy subjects and AT. Our findings also implicate that AT causes a diffuse atrophy and mostly affects superior part of the cortex.

  7. Efficacy of intra-arterial nimodipine in the treatment of cerebral vasospasm complicating subarachnoid haemorrhage

    Energy Technology Data Exchange (ETDEWEB)

    Hui, C. [Department of Diagnostic Imaging, Monash Medical Centre, Clayton, Vic. (Australia)]. E-mail: cathryn.hui@southernhealth.org.au; Lau, K.P. [Department of Diagnostic Imaging, Monash Medical Centre, Clayton, Vic. (Australia)

    2005-09-01

    AIM: To examine the efficacy and safety of nimodipine as an alternative to papaverine for the treatment of cerebral vasospasm following subarachnoid haemorrhage. METHODS: We retrospectively reviewed the procedure reports, anaesthetic records, clinical charts and CT and angiographic images of 9 patients who had received intra-arterial nimodipine; 1 of these patients received both nimodipine and papaverine. The difference in arterial luminal diameter before and after treatment was calculated as a percentage change. RESULTS: The average dose of nimodipine administered per vessel was 3.3 mg. The mean increase in arterial diameter was 66.6% in the vasospastic segment. There was no significant change in blood pressure of any of the subjects during endovascular treatment of vasospasm. CONCLUSION: Intra-arterial nimodipine is effective in improving angiographic vasospasm complicating subarachnoid haemorrhage. Further studies aimed at examining the clinical benefits of nimodipine are warranted, particularly in view of the low risk of adverse side effects of nimopidine when compared with papaverine.

  8. Infrastructure and clinical practice for the detection and management of trauma-associated haemorrhage and coagulopathy

    DEFF Research Database (Denmark)

    Driessen, Annemariek; Schäfer, N; Albrecht, V

    2015-01-01

    PURPOSE: Early detection and management of post-traumatic haemorrhage and coagulopathy have been associated with improved outcomes, but local infrastructures, logistics and clinical strategies may differ. METHODS: To assess local differences in infrastructure, logistics and clinical management...... frequently used strategies for early detection and monitoring of bleeding trauma patients with coagulopathy. Only 30% of the respondents declared to use extended coagulation assays to better characterise the bleeding and coagulopathy prompted by more individualised treatment concepts. Most trauma centres (69...... intake of anticoagulants including "new oral anticoagulants" and platelet inhibitors as an increasing threat to bleeding trauma patients. CONCLUSIONS: This study confirms differences in infrastructure, logistics and clinical practice for the detection and management of trauma-haemorrhage and trauma...

  9. Imported viral haemorrhagic fever with a potential for person-to-person transmission: review and recommendations for initial management of a suspected case in Belgium.

    Science.gov (United States)

    Colebunders, R; Van Esbroeck, M; Moreau, M; Borchert, M

    2002-01-01

    Viral haemorrhagic fevers are caused by a wide range of viruses. There are 4 types of viruses well known to spread from person to person and able to cause nosocomial outbreaks with a high case fatality rate: an arenavirus (Lassa fever and more exceptionally the Junin and Machupo virus), a bunyavirus (Crimean-Congo haemorrhagic fever) and the Filoviridae (Ebola and Marburg viruses). So far there have been only a limited number of imported cases of viral haemorrhagic fever in industrialized countries. In recent years an increasing number of outbreaks of filovirus infections have occurred in Africa and in 2000 5 cases of Lassa fever were brought from Sierra Leone to Europe. Therefore European physicians should consider the possibility of a viral haemorrhagic fever in an acutely ill patient just returning from Africa or South-America with fever for which there is no obvious cause. Such patients should be questioned for risk factors for viral haemorrhagic fever. Using universal precautions for handling blood and body fluids and barrier nursing techniques there is little risk that if a patient with viral haemorrhagic fever arrives in Belgium there will be secondary cases.

  10. Successful Resolution of Preretinal Haemorrhage with Intravitreal Ranibizumab

    Directory of Open Access Journals (Sweden)

    Baharuddin Noorlaila

    2016-01-01

    Full Text Available We would like to report two cases of preretinal haemorrhage from two different aetiology courses of bleeding being treated with intravitreal ranibizumab and its outcome. Our first case was a 39-year-old man with a diagnosis of severe aplastic anaemia that presented with bilateral premacular haemorrhages in both eyes. His right eye vision was 6/45 and it was counting finger in the left eye. He was treated with intravitreal ranibizumab once to the right eye and twice to the left eye. Right eye showed complete resolution of premacular haemorrhage and minimal residual premacular haemorrhage in the left eye at 3 months after initial presentation. Our second case was a 32-year-old healthy teacher that presented with preretinal haemorrhage at superotemporal region extending to macular area in left eye secondary to valsalva retinopathy. Her left vision was counting finger. She was treated with single intravitreal ranibizumab to the left eye. There was significant reduction of premacular haemorrhage and her left eye vision improved to 6/6 at 10 weeks after injection. Both cases had favourable outcome with intravitreal ranibizumab and can be considered as nonsurgical treatment option in treating premacular haemorrhage.

  11. Cerebral capillary telangiectasias: a meta-analysis and review of the literature.

    Science.gov (United States)

    Gross, Bradley A; Puri, Ajit S; Popp, A John; Du, Rose

    2013-04-01

    As a result of their presumed benign natural history, cerebral capillary telangiectasias (CCTs) are infrequently addressed in the neurosurgical literature. We performed a comprehensive review of CCTs via the PubMed database to synthesize overall epidemiological, radiographic, natural history, and treatment results. Across ten series with 203 patients, mean age was 47, and 45 % were male [95 % confidence interval (CI), 0.30-0.65]. Notably, 78 % of CCTs were in the pons (95 % CI, 0.58-1.0). Six percent of CCTs were symptomatic. Across five radiographic series, all lesions enhanced after gadolinium, and all were hypointense on gradient echo sequences. Thirty-three percent were hypointense on T1-weighted pre-contrast imaging (95 % CI, 0.2-0.51), 49 % were hyperintense on T2-weighted imaging (95 % CI, 0.31-0.72), and 74 % were hypointense on diffusion-weighted imaging (95 % CI, 0.5-1.0). Notably, 37 % were associated with a prominent draining vein (95 % CI, 0.21-0.6), and 11 % with a developmental venous anomaly (95 % CI, 0.04-0.25). Across four observational studies with 47 patients, there was no observed change in lesion morphology or hemorrhage in 65.7 patient-years of follow-up. Although the vast majority of CCTs are managed conservatively, we found ten cases of patients treated with surgical excision. We confirm that CCTs are a benevolent entity with a predilection for the pons. They have distinctive radiographic features including their lack of mass effect, consistent enhancement on T1-weighted sequences and hypointensity on gradient echo sequences, and common isointensity on pre-contrast T1-weighted and T2-weighted images. Management for these lesions has been nonoperative in almost all cases.

  12. Introduction of an algorithm for ROTEM-guided fibrinogen concentrate administration in major obstetric haemorrhage.

    Science.gov (United States)

    Mallaiah, S; Barclay, P; Harrod, I; Chevannes, C; Bhalla, A

    2015-02-01

    We compared blood component requirements during major obstetric haemorrhage, following the introduction of fibrinogen concentrate. A prospective study of transfusion requirements and patient outcomes was performed for 12 months to evaluate the major obstetric haemorrhage pathway using shock packs (Shock Pack phase). The study was repeated after the pathway was amended to include fibrinogen concentrate (Fibrinogen phase). The median (IQR [range]) number of blood components given was 8.0 (3.0-14.5 [0-32]) during the Shock Pack phase, and 3.0 (2.0-5.0 [0-26]) during the Fibrinogen phase (p = 0.0004). The median (IQR [range]) quantity of fibrinogen administered was significantly greater in the Shock Pack phase, 3.2 (0-7.1 [0-20.4]) g, than in the Fibrinogen phase, 0 (0-3.0 [0-12.4]) g, p = 0.0005. Four (9.5%) of 42 patients in the Shock Pack phase developed transfusion associated circulatory overload compared with none of 51 patients in the Fibrinogen phase (p = 0.038). Fibrinogen concentrate allows prompt correction of coagulation deficits associated with major obstetric haemorrhage, reducing the requirement for blood component therapy and the attendant risks of complications. © 2014 The Association of Anaesthetists of Great Britain and Ireland.

  13. ELECTROCARDIOGRAPHIC CHANGES OBSERVED IN HAEMORRHAGIC AND ISCHAEMIC CEREBROVASCULAR DISEASES

    Directory of Open Access Journals (Sweden)

    Channappa

    2016-03-01

    Full Text Available INTRODUCTION Cardiac abnormalities are relatively common after acute neurologic injury. Disturbances can vary in severity from transient ECG abnormalities to profound myocardial injury and dysfunction. CNS is involved in the generation of cardiac arrhythmias and dysfunction even in an otherwise normal myocardium. AIM To find out proportion of ECG changes observed in ischaemic and haemorrhagic stroke. MATERIALS AND METHODS The Electrocardiographs of 100 patients with acute stroke were studied to find out the types of ECG abnormalities among different types of stroke. RESULTS In our study, the most common ECG abnormalities associated with stroke were prolonged QTc interval, ST-T segment abnormalities, prominent U wave and arrhythmias. Trop-I was positive in 12.8% patients with ECG changes. Statistical significance was found in association with Trop-I positivity and ST depression. CONCLUSION Usually patients with heart disease present with arrhythmias and Ischaemic like ECG changes. But these changes are also seen most often in the patients with presenting with stroke who didn’t have any past history of heart disease. This shows that arrhythmias and ischaemic ECG abnormalities are primarily evolved due to central nervous system disorders.

  14. Design and Experimental Evaluation of a Non-Invasive Microwave Head Imaging System for Intracranial Haemorrhage Detection.

    Directory of Open Access Journals (Sweden)

    A T Mobashsher

    Full Text Available An intracranial haemorrhage is a life threatening medical emergency, yet only a fraction of the patients receive treatment in time, primarily due to the transport delay in accessing diagnostic equipment in hospitals such as Magnetic Resonance Imaging or Computed Tomography. A mono-static microwave head imaging system that can be carried in an ambulance for the detection and localization of intracranial haemorrhage is presented. The system employs a single ultra-wideband antenna as sensing element to transmit signals in low microwave frequencies towards the head and capture backscattered signals. The compact and low-profile antenna provides stable directional radiation patterns over the operating bandwidth in both near and far-fields. Numerical analysis of the head imaging system with a realistic head model in various situations is performed to realize the scattering mechanism of haemorrhage. A modified delay-and-summation back-projection algorithm, which includes effects of surface waves and a distance-dependent effective permittivity model, is proposed for signal and image post-processing. The efficacy of the automated head imaging system is evaluated using a 3D-printed human head phantom with frequency dispersive dielectric properties including emulated haemorrhages with different sizes located at different depths. Scattered signals are acquired with a compact transceiver in a mono-static circular scanning profile. The reconstructed images demonstrate that the system is capable of detecting haemorrhages as small as 1 cm3. While quantitative analyses reveal that the quality of images gradually degrades with the increase of the haemorrhage's depth due to the reduction of signal penetration inside the head; rigorous statistical analysis suggests that substantial improvement in image quality can be obtained by increasing the data samples collected around the head. The proposed head imaging prototype along with the processing algorithm demonstrates

  15. Role of chromatin structure modulation by the histone deacetylase inhibitor trichostatin A on the radio-sensitivity of ataxia telangiectasia

    Energy Technology Data Exchange (ETDEWEB)

    Meschini, Roberta, E-mail: meschini@unitus.it; Morucci, Elisa; Berni, Andrea; Lopez-Martinez, Wilner; Palitti, Fabrizio

    2015-07-15

    Highlights: • Role of chromatin compaction on chromosomal instability. • Reduced radiation-induced clastogenicity in Ataxia telangiectasia cell lines. • Histone tails hyperacetylation reduces heterochromatin content favouring DSBs repair. - Abstract: At present, a lot is known about biochemical aspects of double strand breaks (DBS) repair but how chromatin structure affects this process and the sensitivity of DNA to DSB induction is still an unresolved question. Ataxia telangiectasia (A-T) patients are characterised by very high sensitivity to DSB-inducing agents such as ionising radiation. This radiosensitivity is revealed with an enhancement of chromosomal instability as a consequence of defective DNA repair for a small fraction of breaks located in the heterochromatin, where they are less accessible. Besides, recently it has been reported that Ataxia Telangiectasia Mutated (ATM) mediated signalling modifies chromatin structure. In order to study the impact of chromatin compaction on the chromosomal instability of A-T cells, the response to trichostatin-A, an histone deacetylase inhibitor, in normal and A-T lymphoblastoid cell lines was investigated testing its effect on chromosomal aberrations, cell cycle progression, DNA damage and repair after exposure to X-rays. The results suggest that the response to both trichostatin-A pre- and continuous treatments is independent of the presence of either functional or mutated ATM protein, as the reduction of chromosomal damage was found also in the wild-type cell line. The presence of trichostatin-A before exposure to X-rays could give rise to prompt DNA repair functioning on chromatin structure already in an open conformation. Differently, trichostatin-A post-treatment causing hyperacetylation of histone tails and reducing the heterochromatic DNA content might diminish the requirement for ATM and favour DSBs repair reducing chromosomal damage only in A-T cells. This fact could suggest that trichostatin-A post

  16. Severe acute haemorrhagic liver failure in a neonate with a favourable spontaneous outcome

    Energy Technology Data Exchange (ETDEWEB)

    Cavet, Madeleine; Balu, Marie; Garel, Catherine; Ducou le Pointe, Hubert [Universite Pierre et Marie Curie Paris VI, Service de Radiologie, Hopital d' enfants Armand-Trousseau, Paris (France); Mitanchez, Delphine; Alexandre, Marie [Universite Pierre et Marie Curie Paris VI, Service de Neonatologie, Hopital d' enfants Armand-Trousseau, Paris (France); Renolleau, Sylvain [Universite Pierre et Marie Curie Paris VI, Service de Reanimation, Hopital d' enfants Armand-Trousseau, Paris (France); Pariente, Daniele [Hopital de Bicetre, Service de Radiologie Pediatrique, Paris (France)

    2008-10-15

    Acute liver failure in neonates is rare and is frequently associated with an unfavourable outcome. There is no curative treatment other than liver transplantation. Screening for viral, metabolic, toxic or vascular disease is essential to assess the prognosis and to guide specific treatment. Hepatic haemorrhage in neonates is often associated with bacterial infection, trauma and coagulopathies. We present a unique case of neonatal acute liver failure and multifocal massive haemorrhagic intrahepatic lesions of traumatic origin, documented by US and MRI. The patient made a spontaneous recovery. Clinical, biological and imaging outcome was excellent despite the apparent severity of the initial features. The only possible aetiology was a difficult caesarean delivery for mild fetal macrosomia. (orig.)

  17. Serial CT and MRI of ischaemic cerebral infarcts: frequency and clinical impact of haemorrhagic transformation

    Energy Technology Data Exchange (ETDEWEB)

    Mayer, T.E.; Brueckmann, H. [Muenchen Univ. (Germany). Abt. fuer Neuroradiologie; Schulte-Altedorneburg, G. [Dept. of Radiology/Neuroradiology, University Medical School of Luebeck (Germany); Droste, D.W. [Dept. of Neurology, University Medical School of Luebeck (Germany)

    2000-04-01

    The frequency, predisposing factors and clinical consequences of haemorrhagic infarcts and damaged blood-brain barrier as shown by contrast enhancement (CE) in ischaemic cerebral infarcts are controversial. We prospectively compared the sensitivity of CT and MRI to haemorrhagic transformation (HT) and CE. We also wished to investigate the clinical significance of HT and factors possibly associated with it. We studied 36 patients with acute ischaemic infarcts in the middle cerebral artery territory during the first 2 weeks after the ictus. After CT and rating of the neurological deficit on admission, serial examinations with clinical neuromonitoring, contrast-enhanced CT and MRI were done on the same day. The occurrence and severity of HT were correlated with CE, stroke mechanism, infarct size, development of neurological deficits and antithrombotic treatment. The frequency of HT detected by MRI was 80 %. CE usually preceded HT or was seen simultaneously. MRI had a higher sensitivity than CT to HT and CE. Severity of HT was positively correlated with infarct size (P < 0.01). HT had no influence on patient's neurological status. Neither the type of antithrombotic treatment nor the stroke mechanism was associated with the severity of HT. No parenchymal haemorrhage occurred. (orig.)

  18. Neonatal bilateral diaphragmatic paralysis caused by brain stem haemorrhage.

    OpenAIRE

    Blazer, S; Hemli, J A; Sujov, P O; Braun, J.

    1989-01-01

    We describe a neonate with severe bilateral diaphragmatic paralysis caused by haemorrhage in the lower brain stem. To our knowledge this association has not been previously reported in the English medical literature.

  19. Marburg haemorrhagic fever: A rare but fatal disease

    African Journals Online (AJOL)

    47(4): 21). Introduction. Marburg haemorrhagic fever was initially detected in 1967 following simultaneous outbreaks in Marburg and Frankfurt,. Germany and Belgrade (former Yugoslavia). The outbreaks occurred in laboratory workers handling ...

  20. The role of dual energy CT in differentiating between brain haemorrhage and contrast medium after mechanical revascularisation in acute ischaemic stroke

    Energy Technology Data Exchange (ETDEWEB)

    Tijssen, M.P.M.; Stadler, A.A.R.; Zwam, W. van; Graaf, R. de; Postma, A.A. [Maastricht University Medical Centre, Department of Radiology, P.O. Box 5800, Maastricht (Netherlands); Hofman, P.A.M. [Maastricht University Medical Centre, Department of Radiology, P.O. Box 5800, Maastricht (Netherlands); Maastricht University, MhENS School for Mental Health and Neuroscience, Maastricht (Netherlands); Oostenbrugge, R.J. van [Maastricht University Medical Centre, Department of Neurology, P.O. Box 5800, Maastricht (Netherlands); Maastricht University, CARIM School for Cardiovascular Diseases, P.O. Box 616, Maastricht (Netherlands); Klotz, E. [Siemens Healthcare Sector, Computed Tomography, Forchheim (Germany); Wildberger, J.E. [Maastricht University Medical Centre, Department of Radiology, P.O. Box 5800, Maastricht (Netherlands); Maastricht University, CARIM School for Cardiovascular Diseases, P.O. Box 616, Maastricht (Netherlands)

    2014-04-15

    To assess the feasibility of dual energy computed tomography (DE-CT) in intra-arterially treated acute ischaemic stroke patients to discriminate between contrast extravasation and intracerebral haemorrhage. Thirty consecutive acute ischaemic stroke patients following intra-arterial treatment were examined with DE-CT. Simultaneous imaging at 80 kV and 140 kV was employed with calculation of mixed images. Virtual unenhanced non-contrast (VNC) images and iodine overlay maps (IOM) were calculated using a dedicated brain haemorrhage algorithm. Mixed images alone, as ''conventional CT'', and DE-CT interpretations were evaluated and compared with follow-up CT. Eight patients were excluded owing to a lack of follow-up or loss of data. Mixed images showed intracerebral hyperdense areas in 19/22 patients. Both haemorrhage and residual contrast material were present in 1/22. IOM suggested contrast extravasation in 18/22 patients; in 16/18 patients this was confirmed at follow-up. The positive predictive value (PPV) of mixed imaging alone was 25 %, with a negative predictive value (NPV) of 91 % and accuracy of 63 %. The PPV for detection of haemorrhage with DE-CT was 100 %, with an NPV of 89 % and accuracy improved to 89 %. Dual energy computed tomography improves accuracy and diagnostic confidence in early differentiation between intracranial haemorrhage and contrast medium extravasation in acute stroke patients following intra-arterial revascularisation. (orig.)

  1. Atlanto-axial rotatory fixation caused by spontaneous intracerebral haemorrhage in a child.

    Science.gov (United States)

    Kombogiorgas, Dimitris; Hussain, Ihsan; Sgouros, Spyros

    2006-09-01

    Atlanto-axial rotatory fixation is rare in children and usually associated with upper respiratory tract infection or trauma. We present a patient who developed the condition acutely as a consequence of rapidly evolving hemiplegia secondary to intracerebral haemorrhage. A previously well 12-year-old boy suddenly developed left hemiparesis within 30 min. Soon after, he developed painful torticollis. On examination, a dense left hemiplegia was associated with left facial and hypoglossal weakness. On computerised tomography (CT) scan there was an intracerebral haemorrhage in the deep aspect of the right frontal lobe in the corona radiata, with extension in the ventricular system. The plain radiographs of the cervical spine, and CT scan later, confirmed the presence of C1-C2 rotatory subluxation. The haematoma was aspirated stereotactically through a burr hole, and at the same session, the subluxation was reduced by manipulation and traction of the cervical spine. The patient was treated with a hard collar. The torticollis did not recur. The hemiparesis resolved within 6 months. A subsequent magnetic resonance imaging and magnetic resonance angiography scan indicated possible arterio-venous malformation (AVM) at the site of the haemorrhage, which was confirmed with digital subtraction angiography. The AVM was surgically excised 1 year from the original haemorrhage. In the absence of any other predisposing factor, it is postulated that the acute atlanto-axial rotatory subluxation was secondary to the acute loss of muscular tone due to the acute hemiparesis. This explains that the subluxation has not recurred a year after, while the hemiparesis has completely resolved.

  2. Automatic detection and quantification of pulmonary arterio-venous malformations in hereditary hemorrhagic telangiectasia

    Science.gov (United States)

    Fetita, Catalin; Fortemps de Loneux, Thierry; Kouvahe, Amélé Florence; El Hajjam, Mostafa

    2017-03-01

    Hereditary hemorrhagic telangiectasia (HHT) is an autosomic dominant disorder, which is characterized by the development of multiple arterio-venous malformations in the skin, mucous membranes, and/or visceral organs. Pulmonary Arterio-Venous Malformation (PAVM) is an abnormal connection where feeding arteries shunt directly into draining veins with no intervening capillary bed. This condition may lead to paradoxical embolism and hemorrhagic complications. PAVMs patients should systematically be screened as the spontaneous complication rate is high, reaching almost 50%. Chest enhanced contrast CT scanner is the reference screening and follow-up examination. When performed by experienced operators as the prime treatment, percutaneous embolization of PAVMs is a safe, efficient and sustained therapy. The accuracy of PAVM detection and quantification of its progression over time is the key of embolotherapy success. In this paper, we propose an automatic method for PAVM detection and quantification relying on a modeling of vessel deformation, i.e. local caliber increase, based on mathematical morphology. The pulmonary field and vessels are first segmented using geodesic operators. The vessel caliber is estimated by means of a granulometric measure and the local caliber increase is detected by using a geodesic operator, the h-maxdomes. The detection sensitivity can be tuned up according to the choice of the h value which models the irregularity of the vessel caliber along its axis and the PAVM selection is performed according to a clinical criterion of >3 mm diameter of the feeding artery of the PAVM. The developed method was tested on a 20 patient dataset. A sensitivity study allowed choosing the irregularity parameter to maximize the true positive ratio reaching 85.4% in average. A specific false positive reduction procedure targeting the vessel trunks of the arterio-venous tree near mediastinum allows a precision increase from 13% to 67% with an average number of 1

  3. Intravitreal Ranibizumab and Laser Photocoagulation in the Management of Idiopathic Juxtafoveolar Retinal Telangiectasia Type 1: A Case Report

    Directory of Open Access Journals (Sweden)

    Angela Ciarnella

    2012-09-01

    Full Text Available Background: Idiopathic juxtafoveolar retinal telangiectasia (IJRT type 1 represents an uncommon cause of congenital unilateral visual loss and it typically affects males. Decrease in visual acuity is caused by serous and lipid exudation into the fovea with cystoid macular edema. In some cases, spontaneous resolution may be observed, but when there is a progressive loss of visual acuity, laser photocoagulation is often necessary. This treatment is not always successful and therapy for this condition is still controversial. Case Presentation: A 57-year-old man referred a 2-month history of blurred and distorted vision in the right eye. Best-corrected visual acuity was 20/50 in the right eye and 20/20 in the left eye. Fundus examination showed temporal macular edema, confirmed by optical coherence tomography. Fluorescein angiography showed a localized area of hyperfluorescence probably due to telangiectasia type 1 located below the inferior temporal area of the fovea. A combined therapy of intravitreal ranibizumab injection and laser photocoagulation was performed. Visual acuity improved from 20/50 to 20/32 and the therapy was well tolerated by the patient. After 3 years of follow-up, both visual acuity and fundus examination were stable. Conclusions: This case suggests that the combined use of ranibizumab and laser photocoagulation may be considered an effective treatment for JRT type 1, leading to an improvement in both visual acuity and macular edema. We believe that intravitreal ranibizumab injection associated with laser photocoagulation should be considered as treatment for IJRT type 1.

  4. Splenic arteriovenous malformation manifested by thrombocytopenia in hereditary hemorrhagic telangiectasia: a case report

    Energy Technology Data Exchange (ETDEWEB)

    Kwon, Hee Jin; Choi, Jong Cheol; Oh, Jong Yeong; Cho, Jin Han; Kang, Myong Jin; Lee, Jin Hwa; Yoon, Seong Kuk; Nam, Kyeong Jin [College of Medicine, Dong-A University, Busan (Korea, Republic of)

    2008-09-15

    Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant inherited disease characterized by epistaxis, telangiectases and visceral arteriovenous malformations (AVMs). The involvement of the gastrointestinal tract, liver, lung and cerebrum for HHT has been described, whereas little is known about AVMs of the spleen. We report here the radiological findings of a case of a splenic AVM manifested by thrombocytopenia in HHT.

  5. NAD(+) Replenishment Improves Lifespan and Healthspan in Ataxia Telangiectasia Models via Mitophagy and DNA Repair

    DEFF Research Database (Denmark)

    Fang, Evandro Fei; Kassahun, Henok; Croteau, Deborah L

    2016-01-01

    Ataxia telangiectasia (A-T) is a rare autosomal recessive disease characterized by progressive neurodegeneration and cerebellar ataxia. A-T is causally linked to defects in ATM, a master regulator of the response to and repair of DNA double-strand breaks. The molecular basis of cerebellar atrophy...

  6. Idiopathic Bilateral Suprachoroidal Haemorrhage: A Rare Case Presentation

    Directory of Open Access Journals (Sweden)

    Komal Saluja

    2017-01-01

    Full Text Available 55-year-old male presented with sudden onset painful diminution of vision in both eyes. On local examination, his visual acuity was FC at 2 metres in right eye and FC at 1 m in left eye. The IOP in right eye was 46 mm Hg and 44 mm Hg in left eye. The patient was admitted and started on injection mannitol, oral syrup glycerol, and oral acetazolamide. Locally, timolol maleate and brimonidine were also started. The next day, his IOP was 17 mm Hg bilaterally but his visual acuity deteriorated to FC 1 m in right eye and hand movement in left eye with inaccurate projection of rays in both eyes. USG B-scan was performed which revealed bilateral choroidal detachment. The echotexture of fluid was suggestive of haemorrhage. As the IOP was controlled, systemic hyperosmotic/antiglaucoma agents were withdrawn in stepwise fashion over next two days. The patient was started on oral prednisolone. At 2 weeks, the visual acuity in both eyes was only perception of light, with inaccurate PR. IOP was 10 mm Hg in both eyes. USG B-scan revealed resorption of the hemorrhage, with partial resolution of the choroidal detachment. The final BCVA was 6/18 and 6/12 in right and left eye.

  7. Olivary degeneration after intracranial haemorrhage or trauma: follow-up MRI

    Energy Technology Data Exchange (ETDEWEB)

    Suzuki, M.; Takashima, T.; Ueda, F.; Fujinaga, Y.; Horichi, Y. [Kanazawa Univ. (Japan). School of Medicine; Yamashita, J. [Department of Neurosurgery, Kanazawa Univ. (Japan)

    1999-01-01

    We studied serial MRI appearances of transneuronal degeneration in the inferior olives, retrospectively analysing follow-up images of five patients, three with head injury and two with brain stem haemorrhage. We performed 13 MRI studies 4 days to 2 years 7 months after the accident. All but one of the patients exhibited bilateral olivary high signal on T2-weighted images. The interval between causal event and appearance of olivary changes was 2-4 months, images 4 days to 1.5 months after the accidents revealing no changes. Olivary enlargement was observed in four patients 2-4 months after ictus. (orig.) (orig.) With 2 figs., 1 tab., 10 refs.

  8. Acute Headache at Emergency Department: Reversible Cerebral Vasoconstriction Syndrome Complicated by Subarachnoid Haemorrhage and Cerebral Infarction

    Directory of Open Access Journals (Sweden)

    M. Yger

    2015-01-01

    Full Text Available Introduction. Reversible cerebral vasoconstriction syndrome is becoming widely accepted as a rare cause of both ischemic and haemorrhagic stroke and should be evocated in case of thunderclap headaches associated with stroke. We present the case of a patient with ischemic stroke associated with cortical subarachnoid haemorrhage (cSAH and reversible diffuse arteries narrowing, leading to the diagnosis of reversible vasoconstriction syndrome. Case Report. A 48-year-old woman came to the emergency department because of an unusual thunderclap headache. The computed tomography of the brain completed by CT-angiography was unremarkable. Eleven days later, she was readmitted because of a left hemianopsia. One day after her admission, she developed a sudden left hemiparesis. The brain MRI showed ischemic lesions in the right frontal and occipital lobe and diffuse cSAH. The angiography showed vasoconstriction of the right anterior cerebral artery and stenosis of both middle cerebral arteries. Nimodipine treatment was initiated and vasoconstriction completely regressed on day 16 after the first headache. Conclusion. Our case shows a severe reversible cerebral vasoconstriction syndrome where both haemorrhagic and ischemic complications were present at the same time. The history we reported shows that reversible cerebral vasoconstriction syndrome is still underrecognized, in particular in general emergency departments.

  9. Spontaneous intratumoural and intraventricular haemorrhage associated with a pilomyxoid astrocytoma in the hypothalamic/chiasmatic region.

    Science.gov (United States)

    Wang, Zhe; Yan, Hong-Mei; Zhou, Xiu-Rong; Liu, Jin-Kai; Chang, Jian-Yong; Wang, Yu-Ting

    2016-11-01

    Pilomyxoid astrocytoma (PMA) is a rare, low-grade glioma that is recognised as a variant of pilocytic astrocytoma. There have been few reports on this pathologic entity presenting with spontaneous haemorrhage. In this study, we report a rare case of PMA in the hypothalamic/chiasmatic region presenting with intratumoural and intraventricular haemorrhage. An external ventricular drain was urgently inserted. A ventriculo-peritoneal shunt (VP) was undergone 4weeks thereafter. The patient received fractionated Gamma Knife radiosurgery in another hospital 3weeks after the VP shunt. Three months later, subtotal resection of the tumour was performed in our hospital via a pterional approach. The pathological diagnosis was PMA. Postoperatively, no adjuvant therapy was given, and the neurologic deficits were improved. However, the presentation of endocrine deficits remained. Notably, PMAs in the hypothalamic/chiasmatic region presenting with massive intratumoural and intraventricular haemorrhage may result in a severe condition and long-term impairment of endocrine function. Long-term follow-up is required to monitor the recurrence of the tumour and endocrinopathy. Copyright © 2016 Elsevier Ltd. All rights reserved.

  10. Treatment of intracerebral haemorrhage with tranexamic acid – A review of current evidence and ongoing trials

    DEFF Research Database (Denmark)

    Law, Zhe Kang; Meretoja, Atte; Engelter, Stefan T

    2017-01-01

    Purpose Haematoma expansion is a devastating complication of intracerebral haemorrhage (ICH) with no established treatment. Tranexamic acid had been an effective haemostatic agent in reducing post-operative and traumatic bleeding. We review current evidence examining the efficacy of tranexamic ac...... Glasgow Coma Scale should be recruited. The time window for optimal effect of haemostatic therapy in ICH is yet to be established. Conclusion Tranexamic acid is a promising haemostatic agent for ICH. We await the results of the trials before definite conclusions can be drawn.......Purpose Haematoma expansion is a devastating complication of intracerebral haemorrhage (ICH) with no established treatment. Tranexamic acid had been an effective haemostatic agent in reducing post-operative and traumatic bleeding. We review current evidence examining the efficacy of tranexamic acid...... window for recruitment and dosing of tranexamic acid. Discussion Despite their heterogeneity, the ongoing trials will provide key evidence on the effects of tranexamic acid on ICH. There are uncertainties of whether patients with negative spot sign, large haematoma, intraventricular haemorrhage, or poor...

  11. Effect of aspirin and warfarin on early survival after intracerebral haemorrhage.

    Science.gov (United States)

    Hanger, H Carl; Fletcher, Valerie J; Wilkinson, Tim J; Brown, Allan J; Frampton, Chris M; Sainsbury, Richard

    2008-03-01

    To determine whether taking aspirin or warfarin at the time of an intracerebral haemorrhage (ICH) has an independent effect on early survival. All people with ICH presenting in Christchurch, New Zealand over a three-year period were identified. Independent predictors of mortality at 7, 14 and 28 days were calculated using binary logistic regression. Two hundred and fifty three cases were identified. Unadjusted 28-day mortality was 43% overall, but 53 % for warfarin associated ICH and 43% for patients taking aspirin. Haemorrhage volume, haemorrhage location, intraventricular spread and the use of warfarin were all independently and significantly associated with mortality at all three time intervals (7, 14 and 28 days). The effect of warfarin was apparent despite similar volumes of bleed in each group. Aspirin was not associated with increased early mortality. Increasing age was also an independent predictor associated with death at 28 days. Use of warfarin (but not aspirin) immediately prior to ICH was independently associated with increased mortality, after controlling for comorbidities. Thus therapeutic efforts to rapidly reverse the warfarin induced coagulopathy may be justified to lower mortality.

  12. Contribution of Oxidative stress to Endothelial Dysfunction in Hereditary Hemorrhagic Telangiectasia

    Directory of Open Access Journals (Sweden)

    Mirjana eJerkic

    2015-02-01

    Full Text Available Oxidative stress causes endothelial dysfunction and is implicated in the pathogenesis of cardiovascular diseases. Our studies suggested that reactive oxygen species (ROS play a crucial role in Hereditary Hemorrhagic Telangiectasia (HHT disease, a vascular dysplasia affecting 1 in 5,000-8,000 people. Mutations in endoglin (ENG and activin receptor-like kinase (ACVRL1 genes are responsible for HHT1 and HHT2 and are associated with arteriovenous malformations. Endoglin and ACVRL1 interact with endothelial NO synthase (eNOS and regulate its activation. Mice heterozygous for these genes (Eng+/− and Acvrl1+/- show reduced endoglin or ACVRL1 protein levels in endothelial cells causing eNOS uncoupling, generation of reactive oxygen species (ROS rather than nitric oxide (NO•, leading to impaired NO• mediated vasodilation. ROS production is increased in several organs of Eng+/− and Acvrl1+/− mice, including lungs, liver, and colon, affected in HHT. The major source of increased oxidative stress in these tissues is eNOS-derived ROS and not mitochondrial or NADPH oxidase-dependent ROS. Eng+/− and Acvrl1+/− mice also develop with age signs of pulmonary arterial hypertension (PH attributable to eNOS-derived ROS, which was preventable by antioxidant treatment. To date, only one pilot study has been carried out in HHT patients, and it showed beneficial effects of antioxidant therapy on epistaxis. We suggest that more clinical studies are warranted to investigate whether antioxidants would prevent, delay or attenuate manifestations of disease in individuals with HHT, based on our experimental data in mouse models.

  13. Identification of intraplaque haemorrhage in carotid artery by simultaneous non-contrast angiography and intraPlaque haemorrhage (SNAP) imaging: a magnetic resonance vessel wall imaging study.

    Science.gov (United States)

    Li, Dongye; Zhao, Huilin; Chen, Xiaoyi; Chen, Shuo; Qiao, Huiyu; He, Le; Li, Rui; Xu, Jianrong; Yuan, Chun; Zhao, Xihai

    2017-11-02

    To investigate the usefulness of Simultaneous Non-contrast Angiography and intraPlaque haemorrhage (SNAP) imaging in characterising carotid intraplaque haemorrhage (IPH) compared with magnetisation-prepared rapid acquisition gradient-echo (MP-RAGE) sequence. Fifty-four symptomatic patients (mean age: 63.1 ± 5.7 years, 38 males) with carotid atherosclerosis were recruited and underwent carotid MR imaging. The presence and area of IPH on SNAP and MP-RAGE images were determined. The agreement in identifying IPH and its area between SNAP and MP-RAGE was analysed. Of 1368 slices with acceptable image quality in 54 patients, 13% and 22.6% were found to have IPH on MP-RAGE and SNAP images, respectively. There was moderate agreement between MP-RAGE and SNAP sequences in identifying IPH (κ = 0.511, p = 0.029). The area of IPH on SNAP images was significantly larger than that on MP-RAGE images (17.9 ± 18.2 mm 2 vs. 9.2 ± 10.5 mm 2 , p SNAP imaging, the area of IPHs also detected by the MP-RAGE sequence was significantly larger than that of IPHs not detected by the MP-RAGE sequence (17.9 ± 19.2 mm 2 vs. 6.4 ± 6.2 mm 2 , p SNAP imaging detects more IPHs, particularly for smaller IPHs, suggesting that SNAP imaging might be a more sensitive tool for identification of carotid haemorrhagic plaques. • Moderate agreement was found between SNAP and MP-RAGE in identification of IPH • SNAP imaging might be a more sensitive tool to detect carotid IPHs • Compared with the MP-RAGE sequence, SNAP imaging can detect carotid IPHs with smaller size • SNAP imaging can help clinicians to optimise the treatment strategy.

  14. [Endovascular versus surgical treatment in subarachnoid haemorrhage: Cost analysis].

    Science.gov (United States)

    Horcajadas Almansa, Angel; Jouma Katati, Majed; Román Cutillas, Ana; Jorques Infante, Ana; Cordero Tous, Nicolás

    2015-01-01

    To analyse costs of endovascular versus surgical treatment in 80 patients with aneurysmal subarachnoid haemorrhage (aSAH). We analysed data on 80 consecutive patients with aSAH between January 2010 and June 2011. Endovascular treatment was used in 57 patients and surgical in 23 patients. Demographic (gender and age) and clinical data (Hunt-Hess and Fisher scales), length of stay (ICU and ward) and results at 6 months (Glasgow outcome scale,[GOS]) were collected. Costs including stay, follow-up, complications and retreatments were calculated. Age was higher in the endovascular group (statistically significant). There were no differences between the 2 groups in Hunt-Hess and Fisher scales. Results at 6 months were also similar, although slightly better in the surgical group. Length of stay was longer in surgical patients, both in ICU (mean 1.4 days) and ward (1.7 days). Hospitalisation length was also related to age and Hunt-Hess and Fisher scales. Costs from embolisation devices, follow-up and retreatment (12% in this series) made final endovascular treatment 4.1% more expensive than surgical treatment (€35,835 versus €34,404). Endovascular procedure (including retreatments) was 110% more expensive than surgical treatment (€8,015 versus €3,817). There are no differences between the 2 treatments in terms of morbidity and mortality. Stability of surgical treatment was higher than that of endovascular, with better occlusion and lower retreatment rates. Endovascular treatment is more expensive in ruptured aneurysms, principally due to embolisation device costs, long-term follow-up and retreatments, in retreatments, in spite of shorter hospital stay. In incidental aneurysms, which usually need shorter hospitalisation, differences between the 2 treatments could be even larger. Copyright © 2013 Sociedad Española de Neurocirugía. Published by Elsevier España. All rights reserved.

  15. Dabigatran ameliorates post-haemorrhagic hydrocephalus development after germinal matrix haemorrhage in neonatal rat pups.

    Science.gov (United States)

    Klebe, Damon; Flores, Jerry J; McBride, Devin W; Krafft, Paul R; Rolland, William B; Lekic, Tim; Zhang, John H

    2017-09-01

    We aim to determine if direct thrombin inhibition by dabigatran will improve long-term brain morphological and neurofunctional outcomes and if potential therapeutic effects are dependent upon reduced PAR-1 stimulation and consequent mTOR activation. Germinal matrix haemorrhage was induced by stereotaxically injecting 0.3 U type VII-S collagenase into the germinal matrix of P7 rat pups. Animals were divided into five groups: sham, vehicle (5% DMSO), dabigatran intraperitoneal, dabigatran intraperitoneal + TFLLR-NH2 (PAR-1 agonist) intranasal, SCH79797 (PAR-1 antagonist) intraperitoneal, and dabigatran intranasal. Neurofunctional outcomes were determined by Morris water maze, rotarod, and foot fault evaluations at three weeks. Brain morphological outcomes were determined by histological Nissl staining at four weeks. Expression levels of p-mTOR/p-p70s6k at three days and vitronectin/fibronectin at 28 days were quantified. Intranasal and intraperitoneal dabigatran promoted long-term neurofunctional recovery, improved brain morphological outcomes, and reduced intracranial pressure at four weeks after GMH. PAR-1 stimulation tended to reverse dabigatran's effects on post-haemorrhagic hydrocephalus development. Dabigatran also reduced expression of short-term p-mTOR and long-term extracellular matrix proteins, which tended to be reversed by PAR-1 agonist co-administration. PAR-1 inhibition alone, however, did not achieve the same therapeutic effects as dabigatran administration.

  16. Development of vaccines against Crimean-Congo haemorrhagic fever virus.

    Science.gov (United States)

    Dowall, Stuart D; Carroll, Miles W; Hewson, Roger

    2017-10-20

    Crimean-Congo haemorrhagic fever virus (CCHFV) is a deadly human pathogen of the utmost seriousness being highly lethal causing devastating disease symptoms that result in intense and prolonged suffering to those infected. During the past 40years, this virus has repeatedly caused sporadic outbreaks responsible for relatively low numbers of human casualties, but with an alarming fatality rate of up to 80% in clinically infected patients. CCHFV is transmitted to humans by Hyalomma ticks and contact with the blood of viremic livestock, additionally cases of human-to-human transmission are not uncommon in nosocomial settings. The incidence of CCHF closely matches the geographical range of permissive ticks, which are widespread throughout Africa, Asia, the Middle East and Europe. As such, CCHFV is the most widespread tick-borne virus on earth. It is a concern that recent data shows the geographic distribution of Hyalomma ticks is expanding. Migratory birds are also disseminating Hyalomma ticks into more northerly parts of Europe thus potentially exposing naïve human populations to CCHFV. The virus has been imported into the UK on two occasions in the last five years with the first fatal case being confirmed in 2012. A licensed vaccine to CCHF is not available. In this review, we discuss the background and complications surrounding this limitation and examine the current status and recent advances in the development of vaccines against CCHFV. Crown Copyright © 2017. Published by Elsevier Ltd. All rights reserved.

  17. [Ebola and Marburg fever--outbreaks of viral haemorrhagic fever].

    Science.gov (United States)

    Chlíbek, R; Smetana, J; Vacková, M

    2006-12-01

    With an increasing frequency of traveling and tourism to exotic countries, a new threat-import of rare, very dangerous infections-emerges in humane medicine. Ebola fever and Marburg fever, whose agents come from the same group of Filoviridae family, belong among these diseases. The natural reservoir of these viruses has not yet been precisely determined. The pathogenesis of the diseases is not absolutely clear, there is neither a possibility of vaccination, nor an effective treatment. Fever and haemorrhagic diathesis belong to the basic symptoms of the diseases. Most of the infected persons die, the death rate is 70-88 %. The history of Ebola fever is relatively short-30 years, Marburg fever is known almost 40 years. Hundreds of people have died of these diseases so far. The study involves epidemics recorded in the world and their epidemiological relations. Not a single case has been recorded in the Czech Republic, nevertheless a sick traveler or infected animals are the highest risk of import these diseases. In our conditions, the medical staff belong to a highly endangered group of people because of stringent isolation of patients, strict rules of barrier treatment regime and high infectivity of the diseases. For this reason, the public should be prepared for possible contact with these highly virulent infections.

  18. Economic modelling of early transjugular intrahepatic portosystemic shunt insertion for acute variceal haemorrhage.

    Science.gov (United States)

    Harman, David J; McCorry, Roger B; Jacob, Ruth P; Lim, Teegan R; O'Neill, Richard; Ryder, Stephen D; James, Martin W; Aithal, Guruprasad P; Guha, Indra N

    2013-02-01

    Early insertion of transjugular intrahepatic portosystemic shunt (TIPS) in high-risk patients with acute variceal haemorrhage reduces rebleeding and mortality. However, the economic benefit of utilizing this approach remains unclear. We evaluated the economic implications of introducing early TIPS into routine algorithms for the management of variceal bleeding. Consecutive patients admitted in 2009 with variceal haemorrhage to two liver units and eligible for early TIPS insertion were identified retrospectively. The costs of a 12-month follow-up from index bleeding admission were calculated--the actual cost of follow-up and rebleeding in this cohort was compared with the theoretical 12-month follow-up costs of instead inserting an early TIPS at index admission. Our findings were subjected to a sensitivity analysis to assess the cost effectiveness of early TIPS insertion compared with standard care. In 2009, 78 patients were admitted to our units with variceal haemorrhage; 27 patients (35%) were eligible for early TIPS insertion. The actual cost of a 12-month follow-up was £138 473.50. Early TIPS insertion, assuming a 3.2% rebleeding rate, would save £534.70 per patient per year (P<0.0001). On sensitivity analysis, early TIPS dominated standard care up to an early TIPS rebleeding rate of 6% and remained cost-effective up to a rebleeding rate of 12%. Early TIPS insertion for high-risk patients with acute variceal bleeding is a cost-efficient intervention. This has important implications for the introduction of early TIPS as standard care and the organization of interventional radiology services.

  19. Procedure-related haemorrhage in embolisation of intracranial aneurysms with Guglielmi detachable coils

    Energy Technology Data Exchange (ETDEWEB)

    Kwon, B.J.; Kim, K.H. [Department of Radiology, Seoul National University College of Medicine, 28 Yongon-Dong, Chongno-Ku, 110-744, Seoul (Korea); Han, M.H.; Chang, K.H. [Department of Radiology, Seoul National University College of Medicine, 28 Yongon-Dong, Chongno-Ku, 110-744, Seoul (Korea); Clinical Research Institute, Seoul National University Hospital, 28 Yongon-Dong, Chongno-Ku, 110-744, Seoul (Korea); Institute of Radiation Medicine, Seoul National University Medical Research Centre, 28 Yongon-Dong, Chongno-Ku, 110-744, Seoul (Korea); Seoul National University College of Medicine (Korea); Oh, C.W. [Department of Neurosurgery, Seoul National University College of Medicine, 28 Yongon-Dong, Chongno-Ku, 110-744, Seoul (Korea)

    2003-08-01

    We reviewed the haemorrhagic complications of the endovascular treatment of intracranial aneurysms, in terms of frequency, pre-embolisation clinical status, clinical and radiological manifestations, management and prognosis. In 275 patients treated for 303 aneurysms over 7 years we had seven (one man and six women - 2.3%) with haemorrhage during or immediately after endovascular treatment. All procedures were performed with a standardised protocol of heparinisation and anaesthesia. Four had ruptured aneurysms, two at the tip of the basilar artery, and one ach on the internal carotid and posterior cerebral artery, treated after 12, 5, 14, and 2 days, respectively, three were in Hunt and Hess grade 2 and one in grade 1. Bleeding occurred during coiling in three, after placement of at least four coils, and during manipulation of the guidewire to enter the aneurysm in the fourth. Haemorrhage was manifest as extravasation of contrast medium, with a sudden rise in systolic blood pressure in three patients. The other three patients had unruptured aneurysms; they had stable blood pressure and angiographic findings during the procedure, but one, under sedation, had seizures immediately after insertion of four coils, and the other two had seizures, headache and vomiting on the day following the procedure. Heparin reversal with protamine sulphate was started promptly started when bleeding was detected in four patients, and the embolisation was completed with additional coils in three. Emergency ventricular drainage was performed in the two patients with ruptured aneurysm and one with an unruptured aneurysm who had abnormal neurological responses or hydrocephalus. The bleeding caused a third nerve palsy in one patient, which might have been due to ischaemia and progressively improved. (orig.)

  20. Novel brain arteriovenous malformation mouse models for type 1 hereditary hemorrhagic telangiectasia.

    Directory of Open Access Journals (Sweden)

    Eun-Jung Choi

    Full Text Available Endoglin (ENG is a causative gene of type 1 hereditary hemorrhagic telangiectasia (HHT1. HHT1 patients have a higher prevalence of brain arteriovenous malformation (AVM than the general population and patients with other HHT subtypes. The pathogenesis of brain AVM in HHT1 patients is currently unknown and no specific medical therapy is available to treat patients. Proper animal models are crucial for identifying the underlying mechanisms for brain AVM development and for testing new therapies. However, creating HHT1 brain AVM models has been quite challenging because of difficulties related to deleting Eng-floxed sequence in Eng(2fl/2fl mice. To create an HHT1 brain AVM mouse model, we used several Cre transgenic mouse lines to delete Eng in different cell-types in Eng(2fl/2fl mice: R26CreER (all cell types after tamoxifen treatment, SM22α-Cre (smooth muscle and endothelial cell and LysM-Cre (lysozyme M-positive macrophage. An adeno-associated viral vector expressing vascular endothelial growth factor (AAV-VEGF was injected into the brain to induce focal angiogenesis. We found that SM22α-Cre-mediated Eng deletion in the embryo caused AVMs in the postnatal brain, spinal cord, and intestines. Induction of Eng deletion in adult mice using R26CreER plus local VEGF stimulation induced the brain AVM phenotype. In both models, Eng-null endothelial cells were detected in the brain AVM lesions, and formed mosaicism with wildtype endothelial cells. However, LysM-Cre-mediated Eng deletion in the embryo did not cause AVM in the postnatal brain even after VEGF stimulation. In this study, we report two novel HHT1 brain AVM models that mimic many phenotypes of human brain AVM and can thus be used for studying brain AVM pathogenesis and testing new therapies. Further, our data indicate that macrophage Eng deletion is insufficient and that endothelial Eng homozygous deletion is required for HHT1 brain AVM development.

  1. Dual-energy CT of the brain: Comparison between DECT angiography-derived virtual unenhanced images and true unenhanced images in the detection of intracranial haemorrhage.

    Science.gov (United States)

    Bonatti, Matteo; Lombardo, Fabio; Zamboni, Giulia A; Pernter, Patrizia; Pozzi Mucelli, Roberto; Bonatti, Giampietro

    2017-07-01

    To evaluate the diagnostic performance of virtual non-contrast (VNC) images in detecting intracranial haemorrhages (ICHs). Sixty-seven consecutive patients with and 67 without ICH who underwent unenhanced brain CT and DECT angiography were included. Two radiologists independently evaluated VNC and true non-contrast (TNC) images for ICH presence and type. Inter-observer agreement for VNC and TNC image evaluation was calculated. Sensitivity and specificity of VNC images for ICH detection were calculated using Fisher's exact test. VNC and TNC images were compared for ICH extent (qualitatively and quantitatively) and conspicuity assessment. On TNC images 116 different haemorrhages were detected in 67 patients. Inter-observer agreement ranged from 0.98-1.00 for TNC images and from 0.86-1.00 for VNC images. VNC sensitivity ranged from 0.90-1, according to the different ICH types, and specificity from 0.97-1. Qualitatively, ICH extent was underestimated on VNC images in 11.9% of cases. Haemorrhage volume did not show statistically significant differences between VNC and TNC images. Mean haemorrhage conspicuity was significantly lower on VNC images than on TNC images for both readers (p images are accurate for ICH detection. Haemorrhages are less conspicuous on VNC images and their extent may be underestimated. • VNC images represent a reproducible tool for detecting ICH. • ICH can be identified on VNC images with high sensitivity and specificity. • Intracranial haemorrhages are less conspicuous on VNC images than on TNC images. • Intracranial haemorrhages extent may be underestimated on VNC images.

  2. Germline Mutations of the Ataxia-Telangiectasia Gene, ATM, as a Risk Factor for Radiation-Associated Breast Cancer

    National Research Council Canada - National Science Library

    Offit, Kenneth

    1998-01-01

    This project is a case-control study designed to determine whether or not the presence of a germline mutation in ATM, the gene responsible for ataxia-telangiectasia, significantly increases the risk...

  3. Primary sclerosing cholangitis associated with CREST (calcinosis, Raynaud phenomenon, oesophageal dysmotility, sclerodactyly and telangiectasia) in an elderly woman: a case report.

    Science.gov (United States)

    Powell, Alice; McNeil, Julian

    2015-11-25

    CREST (calcinosis, Raynaud phenomenon, oesophageal dysmotility, sclerodactyly, and telangiectasia) syndrome comprising calcinosis cutis, Raynaud phenomenon, esophageal dysmotility, sclerodactyly and telangiectasia and primary sclerosing cholangitis are both chronic fibrotic diseases but the association between them is extremely rare. While primary sclerosing cholangitis has been associated with diffuse cutaneous scleroderma, the association with limited cutaneous scleroderma or CREST has not been previously reported in the literature. This case report illustrates the association between CREST and primary sclerosing cholangitis. We report the case of an 84-year-old Asian woman with a long history of CREST who was admitted with abdominal pain, fatigue and progressive derangement of her liver enzymes. This was initially thought to be secondary to her bosentan therapy for pulmonary hypertension but it persisted despite bosentan being ceased. Primary sclerosing cholangitis was subsequently diagnosed on magnetic resonance cholangiopancreatography and she was referred to a hepatologist for treatment. This case highlights the need to consider primary sclerosing cholangitis in patients with CREST who present with abdominal symptoms and deranged liver enzymes when other causes have been excluded. Relevant differential diagnoses for this presentation, which can be difficult to exclude, include immunoglobulin G4-associated cholangitis and antimitochondrial antibody negative primary biliary cirrhosis. It is of particular significance to rheumatologists and gastroenterologists but has broader relevance to all medical specialists involved in the care of patients with CREST.

  4. Intracerebral haemorrhage in the oldest old: a population-based study (Vantaa 85+

    Directory of Open Access Journals (Sweden)

    Maarit eTanskanen

    2012-06-01

    Full Text Available Aims: Very elderly subjects form the fastest growing population in the world. Most of the studies on intracerebral haemorrhage (ICH have been carried out on younger patients. We aimed to investigate the prevalence and risk factors of ICH in the oldest old.Materials and methods: The brains of 300 autopsied individuals (248 females, 52 males, mean age at death 92  3.7 years were investigated as part of the prospective population-based Vantaa 85+ study. After macroscopic investigation, the presence and extent of microscopic brain haemorrhages (MH was analyzed by counting the number of iron containing macrophages (siderophages in the Prussian blue stain. Deposits with > 5 siderophages were defined as MH+. Genotyping of apolipoprotein E (APOE and the analysis of microscopic (MI or larger infarctions and cerebral amyloid angiopathy (CAA were performed using standardized methods. Regression analysis was used to predict the presence of ICH, with and without co-localized CAA, adjusted for age at death and gender. Results: The prevalence of macroscopic ICH was 2%, of large lobar haemorrhage (LH and deep haemorrhage (DH 1% for each, and of subarachnoid haemorrhage (SAH 0.3%. 62% had MH and 15.3% MH+. 55.9% of subjects with MH and 81.2% of those with MH+ showed MH / MH+ and CAA in the same brain region (MHCAA and MH+CAA, respectively. MH was associated with none of the clinical, genetic or neuropathological conditions analyzed. The subjects with MH+, MHCAA and MH+CAA expressed the APOE ε4 allele (OR 3.681, 3.291, 7.522, respectively. Siderophages in MH+CAA co-localized with CAA and with two thirds of the MI in the tissue sections. Conclusion: Macroscopic ICH was rare in the very elderly. MH was frequent and clinically insignificant. MH+ was rare but closely related with APOE ε4 genotype and the presence of severe CAA and infarction. MH+ is the putative histological counterpart of the MH lesions visible in the MRI (microbleeds, either with or without

  5. Cerebrospinal fluid and plasma cytokines after subarachnoid haemorrhage: CSF interleukin-6 may be an early marker of infection

    OpenAIRE

    Hopkins Stephen J; McMahon Catherine J; Singh Navneet; Galea James; Hoadley Margaret; Scarth Sylvia; Patel Hiren; Vail Andy; Hulme Sharon; Rothwell Nancy J; King Andrew T; Tyrrell Pippa J

    2012-01-01

    Abstract Background Cytokines and cytokine receptor concentrations increase in plasma and cerebrospinal fluid (CSF) of patients following subarachnoid haemorrhage (SAH). The relationship between plasma and CSF cytokines, and factors affecting this, are not clear. Methods To help define the relationship, paired plasma and cerebrospinal fluid (CSF) samples were collected from patients subject to ventriculostomy. Concentrations of key inflammatory cytokines, interleukin (IL)-1ß, IL-1 receptor an...

  6. Vesical Artery Embolization in Haemorrhagic Cystitis in Children

    Energy Technology Data Exchange (ETDEWEB)

    García-Gámez, Andrés, E-mail: agargamez@gmail.com; Bermúdez Bencerrey, Patricia, E-mail: PBERMUDE@clinic.ub.es [Hospital Clinic (Spain); Brio-Sanagustin, Sonia, E-mail: sbrio@santpau.cat [Hospital de la Santa Creu y Sant Pau (Spain); Guerrero Vara, Rubén, E-mail: rguerrerov@santpau.cat [Hospital Clinic (Spain); Sisinni, Luisa, E-mail: lsisinni@santpau.cat [Hospital de la Santa Creu y Sant Pau (Spain); Stuart, Sam, E-mail: sam.stuart@gosh.nhs.uk; Roebuck, Derek, E-mail: Derek.Roebuck@gosh.nhs.uk [Great Ormond Street Hospital for Children (United Kingdom); Gómez Muñoz, Fernando, E-mail: FEGOMEZ@clinic.ub.es [Hospital Clinic (Spain)

    2016-07-15

    Haemorrhagic cystitis is an uncommon and, in its severe form, potentially life-threatening complication of haematopoietic stem cell transplantation or cancer therapy in children. The severe form involves macroscopic haematuria with blood clots, urinary obstruction and/or renal impairment. There are many therapeutic options to treat acute haemorrhage, but only recombinant factor VII has a high level of clinical evidence in children. Supraselective vesical artery embolization (SVAE) is an increasingly used therapeutic procedure for controlling haemorrhage in adults, but is less commonly used in children. This might be due to several factors, such as the invasive nature of the procedure, lack of appropriate medical experience and possible long-term side effects. We present three cases of children successfully treated by means of effective SVAE.

  7. Neurosurgical management of L-asparaginase induced haemorrhagic stroke.

    LENUS (Irish Health Repository)

    Ogbodo, Elisha

    2012-01-01

    The authors describe a case of L-asparaginase induced intracranial thrombosis and subsequent haemorrhage in a newly diagnosed 30-year-old man with acute lymphoblastic leukaemia who was successfully managed by surgical intervention. At presentation, he had a Glasgow Coma Score of 7\\/15, was aphasic and had dense right hemiplegia. Neuroimaging revealed an acute anterior left middle cerebral artery infarct with parenchymal haemorrhagic conversion, mass effect and subfalcine herniation. He subsequently underwent left frontal craniotomy and evacuation of large frontal haematoma and decompressive craniectomy for cerebral oedema. Six months postoperatively he underwent titanium cranioplasty. He had made good clinical recovery and is currently mobilising independently with mild occasional episodes of expressive dysphasia, difficulty with fine motor movement on the right side, and has remained seizure free. This is the first documented case of L-asparaginase induced haemorrhagic stroke managed by neurosurgical intervention. The authors emphasise the possible role of surgery in managing chemotherapy induced intracranial complications.

  8. Pre-Eclampsia Increases the Risk of Postpartum Haemorrhage: A Nationwide Cohort Study in The Netherlands

    NARCIS (Netherlands)

    Altenstadt, J.F.V.A.; Hukkelhoven, C.W.P.M.; van Roosmalen, J.; Bloemenkamp, K.W.M.

    2013-01-01

    Background: Postpartum haemorrhage is a leading cause of maternal morbidity and mortality worldwide. Identifying risk indicators for postpartum haemorrhage is crucial to predict this life threatening condition. Another major contributor to maternal morbidity and mortality is pre-eclampsia. Previous

  9. Surfactant for pulmonary haemorrhage in neonates.

    Science.gov (United States)

    Aziz, Abdul; Ohlsson, Arne

    2012-07-11

    In the 1960s and 1970s, pulmonary haemorrhage (PH) occurred mainly in full-term infants with pre-existing illness with an incidence of 1.3 per 1000 live births. Risk factors for PH included severity of illness, intrauterine growth restriction, patent ductus arteriosus (PDA), coagulopathy and the need for assisted ventilation. Presently, PH occurs in 3% to 5% of preterm ventilated infants with severe respiratory distress syndrome (RDS) who often have a PDA and have received surfactant. The cause of PH is thought to be due to rapid lowering of intrapulmonary pressure, which facilitates left to right shunting across a PDA and an increase in pulmonary blood flow. Retrospective case reports and one prospective uncontrolled study have shown promising results for surfactant in treating PH. To evaluate the effect of surfactant treatment compared to placebo or no intervention on mortality and morbidities in neonates with PH. For this update The Cochrane Library, Issue 2, 2012; MEDLINE; EMBASE; CINAHL; Clinicaltrials.gov; Controlled-trials.com; proceedings (2000 to 2011) of the Annual Meetings of the Pediatric Academic Societies (Abstracts2View) and Web of Science were searched on 8 February 2012. Randomised or quasi-randomised controlled trials that evaluated the effect of surfactant in the treatment of PH in intubated term or preterm (neonates with PH. Infants were included up to 44 weeks' postmenstrual age. The interventions studied were intratracheal instillation of surfactant (natural or synthetic, regardless of dose) versus placebo or no intervention. If studies were identified by the literature search, the planned analyses included risk ratio, risk difference, number needed to treat to benefit or to harm for dichotomous outcomes, and mean difference for continuous outcomes, with their 95% confidence intervals. A fixed-effect model would be used for meta-analyses. The risk of bias for included trials would be assessed. Heterogeneity tests, including the I(2) statistic

  10. Dual-energy CT of the brain: Comparison between DECT angiography-derived virtual unenhanced images and true unenhanced images in the detection of intracranial haemorrhage

    Energy Technology Data Exchange (ETDEWEB)

    Bonatti, Matteo; Pernter, Patrizia; Bonatti, Giampietro [Bolzano Central Hospital, Department of Radiology, Bolzano (Italy); Lombardo, Fabio; Zamboni, Giulia A.; Pozzi Mucelli, Roberto [University of Verona, Department of Radiology, Verona (Italy)

    2017-07-15

    To evaluate the diagnostic performance of virtual non-contrast (VNC) images in detecting intracranial haemorrhages (ICHs). Sixty-seven consecutive patients with and 67 without ICH who underwent unenhanced brain CT and DECT angiography were included. Two radiologists independently evaluated VNC and true non-contrast (TNC) images for ICH presence and type. Inter-observer agreement for VNC and TNC image evaluation was calculated. Sensitivity and specificity of VNC images for ICH detection were calculated using Fisher's exact test. VNC and TNC images were compared for ICH extent (qualitatively and quantitatively) and conspicuity assessment. On TNC images 116 different haemorrhages were detected in 67 patients. Inter-observer agreement ranged from 0.98-1.00 for TNC images and from 0.86-1.00 for VNC images. VNC sensitivity ranged from 0.90-1, according to the different ICH types, and specificity from 0.97-1. Qualitatively, ICH extent was underestimated on VNC images in 11.9% of cases. Haemorrhage volume did not show statistically significant differences between VNC and TNC images. Mean haemorrhage conspicuity was significantly lower on VNC images than on TNC images for both readers (p < 0.001). VNC images are accurate for ICH detection. Haemorrhages are less conspicuous on VNC images and their extent may be underestimated. (orig.)

  11. Predictive value of stroke discharge diagnoses in the Danish National Patient Register

    DEFF Research Database (Denmark)

    Lühdorf, Pernille; Overvad, Kim; Schmidt, Erik B

    2017-01-01

    AIMS: To determine the positive predictive values for stroke discharge diagnoses, including subarachnoidal haemorrhage, intracerebral haemorrhage and cerebral infarction in the Danish National Patient Register. METHODS: Participants in the Danish cohort study Diet, Cancer and Health with a stroke...

  12. Perforated ileal duplication cyst with haemorrhagic pseudocyst formation

    Energy Technology Data Exchange (ETDEWEB)

    Hwang, Im Kyung; Kim, Bong Soo; Kim, Heung Chul; Lee, In Sun; Hwang, Woo Chul [Department of Radiology, College of Medicine, Hallym University (Korea); Namkung, Sook [Department of Radiology, College of Medicine, Hallym University (Korea); Department of Radiology, Chuncheon Sacred Heart Hospital, 153 Kyo-dong, Chuncheon, Kangwon-do, 200-704 (Korea)

    2003-07-01

    Duplication cysts of the gastrointestinal tract are rare congenital abnormalities. Ectopic gastric mucosa, which can be found in duplications, may cause peptic ulceration, gastrointestinal bleeding or perforation. We report a 1-year-old boy with a perforated ileal duplication cyst with haemorrhagic pseudocyst formation caused by peptic ulceration of the duplication cyst. It presented a snowman-like appearance consisting of a small, thick-walled, true enteric cyst and a large, thin-walled haemorrhagic pseudocyst on US and CT. It is an unusual manifestation of a duplication cyst, which has not been reported in the English language literature. (orig.)

  13. Eradication of viral haemorrhagic septicaemia in Danish aquaculture

    DEFF Research Database (Denmark)

    Olesen, Niels Jørgen; Skall, Helle Frank; Jensen, Britt Bang

    Eradication of viral haemorrhagic septicaemia in Danish aquaculture Olesen N.J.1, Skall H.F.1, Jensen B.B.2, Henriksen N.H.3, Mellergård S.4, H. Korsholm H.5 1National Veterinary Institute, Technical University of Denmark, Aarhus, Denmark 2Norwegian Veterinary Institute, Oslo, Norway 3Danish...... Aquaculture Association, Silkeborg, Denmark 4Danish Veterinary and Food Administration, Glostrup, Denmark 5Danish Veterinary and Food Administration, Vejle, Denmark Viral haemorrhagic septicaemia (VHS) virus was first isolated in Denmark in 1962, when more than half of the approximately 800 Danish fish farms...

  14. Aplicación del drenaje linfático: manual en Telangiectasias

    OpenAIRE

    Tripodi, Melanie

    2015-01-01

    Las telangiectasias son conocidas vulgarmente como arañas vasculares o derrames que simplemente representan un problema estético, estas se hallan dentro del grupo de las enfermedades venosas. Ciertos factores como antecedentes genéticos, alteraciones hormonales, posturas estáticas de bipedestación por largo tiempo predisponen su formación. Objetivo: Determinar la efectividad del tratamiento con drenaje linfático, con respecto a la presoterapia, en el tratamiento de telangiec...

  15. Bilateral adrenal haemorrhage secondary to intra-abdominal sepsis: a case report.

    LENUS (Irish Health Repository)

    Egan, Aoife M

    2012-01-31

    INTRODUCTION: Bilateral adrenal haemorrhage is a rare cause of adrenal failure. Clinical features are non-specific and therefore a high index of suspicion must be maintained in patients at risk. Predisposing factors include infection, malignancy and the post-operative state. CASE PRESENTATION: We report the case of a patient who underwent a left hemicolectomy with primary anastomosis and formation of a defunctioning loop ileostomy for an obstructing colon carcinoma at the splenic flexure. En-bloc splenectomy was performed to ensure an oncologic resection. The patient developed a purulent abdominal collection post-operatively and became septic with hypotension and pyrexia. This precipitated acute bilateral adrenal haemorrhage with consequent adrenal insufficiency. Clinical suspicion was confirmed by radiological findings and a co-syntropin test. Following drainage of the collection, antibiotic therapy and corticosteroid replacement, the patient made an excellent recovery. CONCLUSION: This case highlights the importance of prompt diagnosis and treatment of adrenal failure. In their absence, this condition can rapidly lead to death of the patient.

  16. OCT Angiography and Ellipsoid Zone Mapping of Macular Telangiectasia Type 2 From the AVATAR Study.

    Science.gov (United States)

    Runkle, Anne P; Kaiser, Peter K; Srivastava, Sunil K; Schachat, Andrew P; Reese, Jamie L; Ehlers, Justis P

    2017-07-01

    To evaluate alterations on optical coherence tomography angiography (OCT-A) and quantitatively assess alterations in the ellipsoid zone (EZ) in eyes with macular telangiectasia type 2 (MacTel type 2). The Observational Assessment of Visualizing and Analyzing Vessels With Optical Coherence Tomography Angiography in Retinal Diseases study is an institutional review board-approved prospective, observational study investigating OCT-A in macular disease. Patients underwent spectral-domain (SD)-OCT and OCT-A imaging at a single visit. SD-OCT data were analyzed using a novel OCT EZ-mapping software to obtain linear, area, and volumetric measurements of the EZ-retinal pigment epithelium (RPE) complex across the macular cube. OCT-A retinal capillary density was measured using the Optovue Avanti split-spectrum amplitude-decorrelation angiography algorithm. EZ-RPE parameters were compared to age-matched, sex-matched controls. Fourteen eyes of seven patients (mean age, 59 ± 6.5 years) were analyzed. Mean visual acuity was 20/45 (range, 20/20-20/150). EZ-RPE central foveal mean thickness was 27.8 ± 6.7 μm, EZ-RPE central foveal thickness was 22.1 ± 21.6 μm, EZ-RPE central foveal area was 0.17 ± 0.04 mm2, and EZ-RPE central subfield volume was 0.017 ± 0.012 mm3. Each of these measurements was significantly inversely correlated with visual acuity (P OCT-A showed a reduced parafoveal vessel density of 50.8% temporally compared to 53.8% nasally (P = 0.01) in the superficial vascular plexus. In the deep vascular plexus, similar findings were noted with a parafoveal vessel density of 56.7% temporally and 58.8% nasally (P = 0.01). Abnormalities in EZ-RPE thickness, area, and volume are correlated with visual acuity in MacTel type 2, and may provide quantitative markers to measure disease progression and treatment response. OCT-A was a useful adjunct for determining disease severity.

  17. Targeted disruption of Ataxia-telangiectasia mutated gene in miniature pigs by somatic cell nuclear transfer

    Energy Technology Data Exchange (ETDEWEB)

    Kim, Young June; Ahn, Kwang Sung; Kim, Minjeong; Kim, Min Ju; Park, Sang-Min; Ryu, Junghyun; Ahn, Jin Seop; Heo, Soon Young; Kang, Jee Hyun; Choi, You Jung [Department of Nanobiomedical Science and BK21 PLUS NBM Global Research Center for Regenerative Medicine, Dankook University, Cheonan (Korea, Republic of); Choi, Seong-Jun [Institute of Tissue Regeneration Engineering, Dankook University, Cheonan (Korea, Republic of); Shim, Hosup, E-mail: shim@dku.edu [Department of Nanobiomedical Science and BK21 PLUS NBM Global Research Center for Regenerative Medicine, Dankook University, Cheonan (Korea, Republic of); Institute of Tissue Regeneration Engineering, Dankook University, Cheonan (Korea, Republic of); Department of Physiology, Dankook University School of Medicine, Cheonan (Korea, Republic of)

    2014-10-03

    Highlights: • ATM gene-targeted pigs were produced by somatic cell nuclear transfer. • A novel large animal model for ataxia telangiectasia was developed. • The new model may provide an alternative to the mouse model. - Abstract: Ataxia telangiectasia (A-T) is a recessive autosomal disorder associated with pleiotropic phenotypes, including progressive cerebellar degeneration, gonad atrophy, and growth retardation. Even though A-T is known to be caused by the mutations in the Ataxia telangiectasia mutated (ATM) gene, the correlation between abnormal cellular physiology caused by ATM mutations and the multiple symptoms of A-T disease has not been clearly determined. None of the existing ATM mouse models properly reflects the extent to which neurological degeneration occurs in human. In an attempt to provide a large animal model for A-T, we produced gene-targeted pigs with mutations in the ATM gene by somatic cell nuclear transfer. The disrupted allele in the ATM gene of cloned piglets was confirmed via PCR and Southern blot analysis. The ATM gene-targeted pigs generated in the present study may provide an alternative to the current mouse model for the study of mechanisms underlying A-T disorder and for the development of new therapies.

  18. Appreciation of CT-negative, lumbar puncture-positive subarachnoid haemorrhage : risk factors for presence of aneurysms and diagnostic yield of imaging

    NARCIS (Netherlands)

    Bakker, Nicolaas A.; Groen, Rob J. M.; Foumani, Mahrouz; Uyttenboogaart, Maarten; Eshghi, Omid S.; Metzemaekers, Joannes; Luijckx, Gert Jan; van Dijk, J. Marc C.

    OBJECTIVE: Patients without a subarachnoid haemorrhage (SAH) on brain CT scan (CT-negative), but a lumbar puncture (LP)-proven SAH, are a challenging patient category. The optimal diagnostic approach is still a matter of debate. Also, there is little knowledge on the probability of finding an

  19. Undifferentiated embryonal sarcoma of the liver in a child complicated by haemorrhage

    Energy Technology Data Exchange (ETDEWEB)

    Kuepeli, Serhan; Yalcin, Bilgehan; Bueyuekpamukcu, Muenevver [Hacettepe University, Department of Pediatric Oncology, Institute of Oncology, Ankara (Turkey); Cil, Barbaros E. [Hacettepe University, Faculty of Medicine, Department of Radiology, Ankara (Turkey); Akcoeren, Zuhal [Hacettepe University, Faculty of Medicine, Department of Pediatric Pathology, Ankara (Turkey)

    2008-11-15

    Undifferentiated embryonal sarcoma (UES) of the liver is a rare malignant neoplasm that mostly affects children younger than 15 years of age. We report a patient with UES in the right lobe that was complicated by haemorrhage after needle biopsy. The tumour was managed by embolization of the right hepatic artery and treated successfully with chemotherapy and surgical resection. Prophylactic embolization of the feeding artery should be undertaken before a biopsy procedure if there is the possibility of tumour rupture, in the presence of signs of intratumoral or peritumoral bleeding, or in the presence of a vascular liver mass. (orig.)

  20. Posterior reversible encephalopathy syndrome (PRES) with sub-arachnoid haemorrhage after bevacizumab and 5-FU.

    Science.gov (United States)

    Massey, Jennifer

    2017-06-01

    PRES is a neurological syndrome characterised by reversible subcortical vasogenic brain oedema in patients with acute neurological signs and symptoms. It occurs in the context of fluctuations in blood pressure, renal failure, autoimmune disorders, eclamptic syndromes and with use of cytotoxic drugs. We present the case of a 60year old female with advanced bowel cancer who was admitted with seizures and sub-arachnoid haemorrhage, with radiographic features of PRES, shortly after receiving bevacizumab (Avastin), a VEGF-inhibitor. Crown Copyright © 2017. Published by Elsevier Ltd. All rights reserved.

  1. Volume-dependent effect of perihaematomal oedema on outcome for spontaneous intracerebral haemorrhages.

    Science.gov (United States)

    Appelboom, Geoffrey; Bruce, Samuel S; Hickman, Zachary L; Zacharia, Brad E; Carpenter, Amanda M; Vaughan, Kerry A; Duren, Andrew; Hwang, Richard Yeup; Piazza, Matthew; Lee, Kiwon; Claassen, Jan; Mayer, Stephan; Badjatia, Neeraj; Connolly, E Sander

    2013-05-01

    It is still unknown whether subsequent perihaematomal oedema (PHE) formation further increases the odds of an unfavourable outcome. Demographic, clinical, radiographic and outcome data were prospectively collected in a single large academic centre. A multiple logistic regression model was then developed to determine the effect of admission oedema volume on outcome. 133 patients were analysed in this study. While there was no significant association between relative PHE volume and discharge outcome (p=0.713), a strong relationship was observed between absolute PHE volume and discharge outcome (p=0.009). In a multivariate model incorporating known predictors of outcome, as well as other factors found to be significant in our univariate analysis, absolute PHE volume remained a significant predictor of poor outcome only in patients with intracerebral haemorrhage (ICH) volumes ≤30 cm(3) (OR 1.123, 95% CI 1.021 to 1.273, p=0.034). An increase in absolute PHE volume of 10 cm(3) in these patients was found to increase the odds of poor outcome on discharge by a factor of 3.19. Our findings suggest that the effect of absolute PHE volume on functional outcome following ICH is dependent on haematoma size, with only patients with smaller haemorrhages exhibiting poorer outcome with worse PHE. Further studies are needed to define the precise role of PHE in driving outcome following ICH.

  2. Infrastructure and clinical practice for the detection and management of trauma-associated haemorrhage and coagulopathy.

    Science.gov (United States)

    Driessen, A; Schäfer, N; Albrecht, V; Schenk, M; Fröhlich, M; Stürmer, E K; Maegele, M

    2015-08-01

    Early detection and management of post-traumatic haemorrhage and coagulopathy have been associated with improved outcomes, but local infrastructures, logistics and clinical strategies may differ. To assess local differences in infrastructure, logistics and clinical management of trauma-associated haemorrhage and coagulopathy, we have conducted a web-based survey amongst the delegates to the 15th European Congress of Trauma and Emergency Surgery (ECTES) and the 2nd World Trauma (WT) Congress held in Frankfurt, Germany, 25-27 May 2014. 446/1,540 delegates completed the questionnaire yielding a response rate of 29%. The majority specified to work as consultants/senior physicians (47.3%) in general (36.1%) or trauma/orthopaedic surgery (44.5%) of level I (70%) or level II (19%) trauma centres. Clinical assessment (>80%) and standard coagulation assays (74.6%) are the most frequently used strategies for early detection and monitoring of bleeding trauma patients with coagulopathy. Only 30% of the respondents declared to use extended coagulation assays to better characterise the bleeding and coagulopathy prompted by more individualised treatment concepts. Most trauma centres (69%) have implemented local protocols based on international and national guidelines using conventional blood products, e.g. packed red blood cell concentrates (93.3%), fresh frozen plasma concentrates (93.3%) and platelet concentrates (83%), and antifibrinolytics (100%). 89% considered the continuous intake of anticoagulants including "new oral anticoagulants" and platelet inhibitors as an increasing threat to bleeding trauma patients. This study confirms differences in infrastructure, logistics and clinical practice for the detection and management of trauma-haemorrhage and trauma-associated coagulopathy amongst international centres. Ongoing work will focus on geographical differences.

  3. Mutation affecting the proximal promoter of Endoglin as the origin of hereditary hemorrhagic telangiectasia type 1.

    Science.gov (United States)

    Albiñana, Virginia; Zafra, Ma Paz; Colau, Jorge; Zarrabeitia, Roberto; Recio-Poveda, Lucia; Olavarrieta, Leticia; Pérez-Pérez, Julián; Botella, Luisa M

    2017-02-23

    Hereditary hemorrhagic telangiectasia (HHT) is a vascular multi-organ system disorder. Its diagnostic criteria include epistaxis, telangiectases in mucocutaneous sites, arteriovenous malformations (AVMs), and familial inheritance. HHT is transmitted as an autosomal dominant condition, caused in 85% of cases by mutations in either Endoglin (ENG) or Activin receptor-like kinase (ACVRL1/ACVRL1/ALK1) genes. Pathogenic mutations have been described in exons, splice junctions and, in a few cases with ENG mutations, in the proximal promoter, which creates a new ATG start site. However, no mutations affecting transcription regulation have been described to date in HHT, and this type of mutation is rarely identified in the literature on rare diseases. Sequencing data from a family with HHT lead to single nucleotide change, c.-58G > A. The functionality and pathogenicity of this change was analyzed by in vitro mutagenesis, quantitative PCR and Gel shift assay. Student t test was used for statistical significance. A single nucleotide change, c.-58G > A, in the proximal ENG promoter co-segregated with HHT clinical features in an HHT family. This mutation was present in the proband and in 2 other symptomatic members, whereas 2 asymptomatic relatives did not harbor the mutation. Analysis of RNA from activated monocytes from the probands and the healthy brother revealed reduced ENG mRNA expression in the HHT patient (p = 0.005). Site-directed mutagenesis of the ENG promoter resulted in a three-fold decrease in luciferase activity of the mutant c.-58A allele compared to wild type (p = 0.005). Finally, gel shift assay identified a DNA-protein specific complex. The novel ENG c.-58G > A substitution in the ENG promoter co-segregates with HHT symptoms in a family and appears to affect the transcriptional regulation of the gene, resulting in reduced ENG expression. ENG c.-58G > A may therefore be a pathogenic HHT mutation leading to haploinsufficiency of

  4. Mutations in the ALK-1 gene and the phenotype of hereditary hemorrhagic telangiectasia in two large Danish families

    DEFF Research Database (Denmark)

    Kjeldsen, A D; Brusgaard, K; Poulsen, L

    2001-01-01

    Mutations in the ENG gene on chromosome 9 (HHT 1) and in the ALK-1 gene on chromosome 12 (HHT 2) have been reported as causes of hereditary hemorrhagic telangiectasia (HHT). HHT 1 has been correlated with a higher prevalence of pulmonary arteriovenous malformations than HHT 2. Other distinct...... phenotype-genotype correlations have not been described. The prevalence of HHT in the county of Fyn, Denmark, was 15.6 per 100,000 on January 1, 1995. All living patients and their first-degree relatives were invited to attend a detailed clinical examination and blood was drawn for mutation analysis. In two...... families mutations were identified in exon 8 of the ALK-1 gene. In family 6 we found a T1193A mutation. In this family a high prevalence of PAVM and severe GI bleeding was documented, while in family 8 with a C1120T mutation no individuals with PAVM were identified and only one patient had a history...

  5. Lifetime risks for aneurysmal subarachnoid haemorrhage: multivariable risk stratification.

    Science.gov (United States)

    Vlak, Monique H M; Rinkel, Gabriel J E; Greebe, Paut; Greving, Jacoba P; Algra, Ale

    2013-06-01

    The overall incidence of aneurysmal subarachnoid haemorrhage (aSAH) in western populations is around 9 per 100 000 person-years, which confers to a lifetime risk of around half per cent. Risk factors for aSAH are usually expressed as relative risks and suggest that absolute risks vary considerably according to risk factor profiles, but such estimates are lacking. We aimed to estimate incidence and lifetime risks of aSAH according to risk factor profiles. We used data from 250 patients admitted with aSAH and 574 sex-matched and age-matched controls, who were randomly retrieved from general practitioners files. We determined independent prognostic factors with multivariable logistic regression analyses and assessed discriminatory performance using the area under the receiver operating characteristic curve. Based on the prognostic model we predicted incidences and lifetime risks of aSAH for different risk factor profiles. The four strongest independent predictors for aSAH, namely current smoking (OR 6.0; 95% CI 4.1 to 8.6), a positive family history for aSAH (4.0; 95% CI 2.3 to 7.0), hypertension (2.4; 95% CI 1.5 to 3.8) and hypercholesterolaemia (0.2; 95% CI 0.1 to 0.4), were used in the final prediction model. This model had an area under the receiver operating characteristic curve of 0.73 (95% CI 0.69 to 0.76). Depending on sex, age and the four predictors, the incidence of aSAH ranged from 0.4/100 000 to 298/100 000 person-years and lifetime risk between 0.02% and 7.2%. The incidence and lifetime risk of aSAH in the general population varies widely according to risk factor profiles. Whether persons with high risks benefit from screening should be assessed in cost-effectiveness studies.

  6. Regulatory T cells ameliorate tissue plasminogen activator-induced brain haemorrhage after stroke.

    Science.gov (United States)

    Mao, Leilei; Li, Peiying; Zhu, Wen; Cai, Wei; Liu, Zongjian; Wang, Yanling; Luo, Wenli; Stetler, Ruth A; Leak, Rehana K; Yu, Weifeng; Gao, Yanqin; Chen, Jun; Chen, Gang; Hu, Xiaoming

    2017-07-01

    Delayed thrombolytic treatment with recombinant tissue plasminogen activator (tPA) may exacerbate blood-brain barrier breakdown after ischaemic stroke and lead to lethal haemorrhagic transformation. The immune system is a dynamic modulator of stroke response, and excessive immune cell accumulation in the cerebral vasculature is associated with compromised integrity of the blood-brain barrier. We previously reported that regulatory T cells, which function to suppress excessive immune responses, ameliorated blood-brain barrier damage after cerebral ischaemia. This study assessed the impact of regulatory T cells in the context of tPA-induced brain haemorrhage and investigated the underlying mechanisms of action. The number of circulating regulatory T cells in stroke patients was dramatically reduced soon after stroke onset (84 acute ischaemic stroke patients with or without intravenous tPA treatment, compared to 115 age and gender-matched healthy controls). Although stroke patients without tPA treatment gradually repopulated the numbers of circulating regulatory T cells within the first 7 days after stroke, post-ischaemic tPA treatment led to sustained suppression of regulatory T cells in the blood. We then used the murine suture and embolic middle cerebral artery occlusion models of stroke to investigate the therapeutic potential of adoptive regulatory T cell transfer against tPA-induced haemorrhagic transformation. Delayed administration of tPA (10 mg/kg) resulted in haemorrhagic transformation in the ischaemic territory 1 day after ischaemia. When regulatory T cells (2 × 106/mouse) were intravenously administered immediately after delayed tPA treatment in ischaemic mice, haemorrhagic transformation was significantly decreased, and this was associated with improved sensorimotor functions. Blood-brain barrier disruption and tight junction damages were observed in the presence of delayed tPA after stroke, but were mitigated by regulatory T cell transfer. Mechanistic

  7. Psychosocial implications of post-partum haemorrhage and ...

    African Journals Online (AJOL)

    ... PPH because it an emergency situation in order to prevent maternal mortality. Psychosocial support should be provided for the woman and her family in order to prevent long lasting negative psychosocial outcomes after complicated childbirth. Keywords: Psychosocial Implications, Post-Partum Haemorrhage, Maternal ...

  8. Subarachnoid Haemorrhage: epidemiological studies on aetiology and outcome

    NARCIS (Netherlands)

    R. Risselada (Roelof)

    2010-01-01

    textabstractSubarachnoid haemorrhage (SAH) is bleeding into the subarachnoid space ‒ the area between the arachnoid membrane and the pia mater surrounding the brain. SAH occurs spontaneously or can be caused by traumatic injury of the head. Spontaneous SAH is caused by rupture of an intracranial

  9. Life threatening vaginal haemorrhage from coital laceration in a post ...

    African Journals Online (AJOL)

    Background: Life threatening coital laceration from consensual intercourse in the postmenopausal period is unusual without any predisposing factors(s). The usual site of occurrence is the right side of the posterior fornix. Aim: To report a case of haemorrhagic shock from coital laceration. Design: Case report. Case report: A ...

  10. Spinal arachnoiditis and cyst formation with subarachnoid haemorrhage.

    Science.gov (United States)

    Abhinav, Kumar; Bradley, Marcus; Aquilina, Kristian; Patel, Nikunj K

    2012-08-01

    We present the case of a 58-year-old lady with p-ANCA vasculitis who suffered a WFNS grade 1 subarachnoid haemorrhage (Fisher grade 1) secondary to a ruptured left posterior inferior cerebellar artery aneurysm and then developed a rare complication of radiologically progressive spinal arachnoiditis despite maintained clinical response to definitive treatment measures.

  11. Surveillance of viral haemorrhagic fevers in Ghana: entomological ...

    African Journals Online (AJOL)

    Results: A total of 2804 households were surveyed to estimate larval indices and man-vector contacts of potential vectors of viral haemorrhagic fevers such as Yellow fever and Dengue. Over 56% households in each study site were positive for Aedes larvae. Relatively higher Breteaux index (BI) and Container index (CI) ...

  12. Intra-arterial nimodipine for cerebral vasospasm after subarachnoid haemorrhage

    DEFF Research Database (Denmark)

    Bashir, Asma; Andresen, Morten; Bartek, Jiri

    2016-01-01

    Intra-arterial nimodipine (IAN) has shown a promising effect on cerebral vasospasm (CV) after aneurysmal subarachnoid haemorrhage. At our institution, Rigshospitalet, IAN treatment has been used since 2009, but the short- and long-term clinical efficacy of IAN has not yet been assessed. The purpo...

  13. Periventricular-intraventricular haemorrhage in low-birth-weight ...

    African Journals Online (AJOL)

    The prevalence of periventricular-intraventricular haemorrhage (PV-IVH) aInong very-low-birthweight infants at Baragwanath Hospital has not been well docwnented. In this prospective study, a total of 282 live-born infants with birth weights of 1 000 - 1 749 g were studied over a 41/2-month period. Every infant had at least ...

  14. Expression of VP60 gene from rabbit haemorrhagic disease virus ...

    African Journals Online (AJOL)

    The VP60 gene from rabbit haemorrhagic disease virus (RHDV) YL strain in Northeast of China, under control of the ats1A promoter from Rubisco small subunit genes of Arabidopsis thaliana, was introduced into the transfer deoxyribonucleic acid (T-DNA) region of plant transfer vector pCAMBIA1300 and transferred to ...

  15. Rainbow trout offspring with different resistance to viral haemorrhagic septicaemia

    DEFF Research Database (Denmark)

    Slierendrecht, W.J.; Olesen, Niels Jørgen; Juul-Madsen, H.R.

    2001-01-01

    To study immunological and immunogenetical parameters related to resistance against viral haemorrhagic septicaemia (VHS), attempts to make gynogenetic strains of rainbow trout selected for high and low resistance to VHS were initiated in 1988. The first gynogenetic generation of inbreeding resulted...

  16. Pattern of Antepartum Haemorrhage at the Lagos University ...

    African Journals Online (AJOL)

    Errata: Note that the original file was found to have errors. The erroneous file was removed and only the corrected file is now available for download (errata). The incidence of Antepartum Haemorrhage (APH) was 3.5%. Placenta praevia with an incidence of 2.0% constituted 58.4% of the cause of APH, followed by placental ...

  17. Risk factors associated with postpartum haemorrhage at Juba ...

    African Journals Online (AJOL)

    Objective: To study risk factors associated with post partum haemorrhage (PPH) in Juba Teaching Hospital, South Sudan. Method: An unmatched case control study was conducted in which 44 cases and 88 controls were involved, from September to December 2011. Data were collected using a structured questionnaire in ...

  18. Review: Overview of postpartum haemorrhage as a global problem ...

    African Journals Online (AJOL)

    Postpartum haemorrhage (PPH) is a major cause of maternal morbidity and mortality in under-resourced settings. It is also a major cause of severe acute morbidity in well-resourced settings. The maternal mortality ratio for PPH in South Africa in the years 2005-2007 was 18.8 deaths per 100,000 live births; there were 491 ...

  19. Massive pulmonary haemorrhage as a cause of death in the ...

    African Journals Online (AJOL)

    Obstetric information revealed that 29 mothers (93.5%) experienced obstetric complications, viz. preeclampsia/ eclampsia syndrome 21 (64.5%), abruptio placentae 5 (16.1 %) and previous pregnancy losses 9 ... The majority of babies suffering pulmonary haemorrhage were not associated with intensive care management.

  20. Non-fatal case of Crimean-Congo haemorrhagic fever imported into the United Kingdom (ex Bulgaria), June 2014.

    Science.gov (United States)

    Lumley, S; Atkinson, B; Dowall, Sd; Pitman, Jk; Staplehurst, S; Busuttil, J; Simpson, Aj; Aarons, Ej; Petridou, C; Nijjar, M; Glover, S; Brooks, Tj; Hewson, R

    2014-07-31

    Crimean-Congo haemorrhagic fever (CCHF) was diagnosed in a United Kingdom traveller who returned from Bulgaria in June 2014. The patient developed a moderately severe disease including fever, headaches and petechial rash. CCHF was diagnosed following identification of CCHF virus (CCHFV) RNA in a serum sample taken five days after symptom onset. Sequence analysis of the CCHFV genome showed that the virus clusters within the Europe 1 clade, which includes viruses from eastern Europe.

  1. Phylogenetic analysis in a recent controlled outbreak of Crimean-Congo haemorrhagic fever in the south of Iran, December 2008

    DEFF Research Database (Denmark)

    Chinikar, S; Ghiasi, Seyed Mojtaba; Mojtaba Ghiasi, S

    2010-01-01

    Crimean-Congo haemorrhagic fever (CCHF) is a viral zoonotic disease with a high mortality rate in humans. The CCHF virus is transmitted to humans through the bite of Ixodid ticks or contact with blood or tissues of CCHF patients or infected livestock. In December 2008, a re-emerging outbreak...... of this transmission. This outbreak should be considered as a warning for the national CCHF surveillance system to avoid further outbreaks through robust prevention and control programmes....

  2. Towards evidence-based emergency medicine: best BETs from the Manchester Royal Infirmary. BET 2: is recombinant factor VIIa beneficial in the management of acute spontaneous intracerebral haemorrhage?

    Science.gov (United States)

    Dewhirst, Edward

    2013-04-01

    A short-cut review was carried out to establish whether recombinant factor VIIa (rFVIIa) improves survival and functional outcome in acute spontaneous intracranial haemorrhage. Ninety-two papers were found using the reported searches, of which two presented the best evidence to answer the clinical question. The author, date and country of publication, patient group studied, study type, relevant outcomes, results and study weaknesses of these best papers are tabulated. It is concluded that current evidence does not support the use of rFVIIa in acute spontaneous intracranial haemorrhage.

  3. Severe gastric variceal haemorrhage due to splenic artery thrombosis and consecutive arterial bypass

    Directory of Open Access Journals (Sweden)

    Wasmuth Hermann E

    2011-06-01

    Full Text Available Abstract Background Upper gastrointestinal haemorrhage is mainly caused by ulcers. Gastric varicosis due to portal hypertension can also be held responsible for upper gastrointestinal bleeding. Portal hypertension causes the development of a collateral circulation from the portal to the caval venous system resulting in development of oesophageal and gastric fundus varices. Those may also be held responsible for upper gastrointestinal haemorrhage. Case presentation In this study, we describe the case of a 69-year-old male with recurrent severe upper gastrointestinal bleeding caused by arterial submucosal collaterals due to idiopathic splenic artery thrombosis. The diagnosis was secured using endoscopic duplex ultrasound and angiography. The patient was successfully treated with a laparoscopic splenectomy and complete dissection of the short gastric arteries, resulting in the collapse of the submucosal arteries in the gastric wall. Follow-up gastroscopy was performed on the 12th postoperative week and showed no signs of bleeding and a significant reduction in the arterial blood flow within the gastric wall. Subsequent follow-up after 6 months also showed no further gastrointestinal bleeding as well as subjective good quality of life for the patient. Conclusion Submucosal arterial collaterals must be excluded by endosonography via endoscopy in case of recurrent upper gastrointestinal bleeding. Laparoscopic splenectomy provides adequate treatment in preventing any recurrent bleeding, if gastric arterial collaterals are caused by splenic artery thrombosis.

  4. Incomplete cauda equina syndrome secondary to haemorrhage within a Tarlov cyst.

    Science.gov (United States)

    Yates, Joseph R; Jones, Conor S; Stokes, Oliver M; Hutton, Michael

    2017-08-07

    Sacral perineural (Tarlov) cysts are benign, cerebrospinal fluid containing lesions of the spinal nerve root sheath. They are usually asymptomatic; however, a small proportion have the potential to cause compression of nerve roots and/or the cauda equina.We report a case of a 61-year-old man who presented with acute onset back pain associated with bilateral radiculopathy. Between referral and consultation, the patient developed urinary dysfunction which resolved spontaneously.MRI revealed haemorrhage within a Tarlov cyst, resulting in compression of the cauda equina. Due to the considerable clinical improvement at the time of consultation, surgical decompression of the cyst was not considered to be indicated.An interval MRI scan 8 weeks later demonstrated that the haemorrhage within the perineural cyst had spontaneously resolved and the patient remained asymptomatic at 5-year follow-up. © BMJ Publishing Group Ltd (unless otherwise stated in the text of the article) 2017. All rights reserved. No commercial use is permitted unless otherwise expressly granted.

  5. Relevance of induced and accidental hypothermia after trauma-haemorrhage-what do we know from experimental models in pigs?

    Science.gov (United States)

    Hildebrand, Frank; Radermacher, Peter; Ruchholtz, Steffen; Huber-Lang, Markus; Seekamp, Andreas; Flohé, Sascha; van Griensven, Martijn; Andruszkow, Hagen; Pape, Hans-Christoph

    2014-12-01

    Recent experimental research has either focused on the role of accidental hypothermia as part of the lethal triad after trauma or tried to elucidate the effects of therapeutically induced hypothermia on the posttraumatic course. Induced hypothermia seems to reduce the mortality in experimental models of trauma-haemorrhage. As potential mechanisms, a decrease of cellular metabolism, beneficial effects on haemodynamic function and an attenuation of the inflammatory response have been described. However, negative side effects of hypothermia have to be considered, such as impairment of the coagulatory function and immunosuppressive effects. Furthermore, the optimal strategy for the induction of hypothermia (magnitude, duration, timing, cooling rate, etc.) and subsequent rewarming remains unclear. Nevertheless, this piece of information is essential before considering hypothermia as a treatment strategy for severely injured patients. This review aims to elaborate the differences between accidental and induced hypothermia and to summarize the current knowledge of the potential therapeutic use of induced hypothermia suggested in porcine models of trauma-haemorrhage.

  6. Diagnostic yield and accuracy of CT angiography, MR angiography, and digital subtraction angiography for detection of macrovascular causes of intracerebral haemorrhage: Prospective, multicentre cohort study

    NARCIS (Netherlands)

    C.J.J. Van Asch (Charlotte J.J.); B.K. Velthuis (Birgitta K.); G.J.E. Rinkel (Gabriël J.E.); A. Algra (Ale); G.A.P. de Kort (G. A P); T.D. Witkamp (Theo); J.C.M. De Ridder (Johanna C.M.); K.M. Van Nieuwenhuizen (Koen M.); F.-E. De Leeuw (Frank-Erik); W.J. Schonewille (Wouter); P.L.M. de Kort (Paul); D.W.J. Dippel (Diederik); T.W.M. Raaymakers (Theodora W.M.); J. Hofmeijer; M.J.H. Wermer (Marieke); H. Kerkhoff (Henk); K. Jellema (Korné); I.M. Bronner (Irene M.); M.J.M. Remmers (Michel ); H.P. Bienfait; R.J.G.M. Witjes (Ron J.G.M.); J.P. Greving (Jacoba); C.J.M. Klijn (Catharina J.M.); H.F. de Leeuw (Frank); H.B. Boogaarts; E.J. van Dijk (Ewoud); W.J. Schonewille; W.M.J. Pellikaan; C. Puppels-De Waard; P.L.M. De Kort; J.P. Peluso; J. van Tuijl (Jordie); J. Hofmeijer; F.B.M. Joosten (Frank); D.W.J. Dippel (Diederik); L. Khajeh (Ladbon); T.W.M. Raaijmakers; M.J. Wermer; M.A. van Walderveen (M.); H. Kerkhoff; E. Zock; K. Jellema (Korné); G.J. Lycklama à Nijeholt (Geert); I.M. Bronner; M.J.M. Remmers; R.J.G.M. Witjes; H.P. Bienfait; K.E. Droogh-Greve; R. Donders (Rogier); V.I.H. Kwa; T.H.C.M.L. Schreuder (Tobien H. C. M. L.); C.L. Franke (Cees); J.S. Straver; C. Jansen; S.L.M. Bakker (Stef); C.C. Pleiter (C.); M.C. Visser; C.J.J. Van Asch; B.K. Velthuis (Birgitta); G.J.E. Rinkel (Gabriel); K.M. Van Nieuwenhuizen; C.J.M. Klijn (Catharina J.M.)

    2015-01-01

    textabstractStudy question What are the diagnostic yield and accuracy of early computed tomography (CT) angiography followed by magnetic resonance imaging/angiography (MRI/MRA) and digital subtraction angiography (DSA) in patients with non-traumatic intracerebral haemorrhage? Methods This

  7. Diagnostic yield and accuracy of CT angiography, MR angiography, and digital subtraction angiography for detection of macrovascular causes of intracerebral haemorrhage: prospective, multicentre cohort study.

    NARCIS (Netherlands)

    van Asch, C.J.J.; Velthuis, B.K.; Rinkel, G.J.E.; Algra, A.; de Kort, G.A.P.; Witkamp, T.D.; Hofmeijer, Jeannette

    2015-01-01

    Study question: What are the diagnostic yield and accuracy of early computed tomography (CT) angiography followed by magnetic resonance imaging/angiography (MRI/MRA) and digital subtraction angiography (DSA) in patients with non-traumatic intracerebral haemorrhage? Methods: This prospective

  8. Radiosensitive melanoma cell line with mutation of the gene for ataxia telangiectasia.

    OpenAIRE

    Ramsay, J.; Birrell, G.; K. Baumann; Bodero, A.; Parsons, P.; Lavin, M

    1998-01-01

    The human melanoma cell lines MM96L, A2058 and HT144 were examined for sensitivity to ionizing radiation and UVB radiation. HT144 demonstrated a significant increase in sensitivity to ionizing and UVB radiation compared with the MM96L and A2058 cells. Sensitivity to both agents was associated with susceptibility to apoptosis. Using a protein truncation assay, a mutation for the gene for ataxia telangiectasia (ATM) was identified in HT144 cells. This was confirmed to be a homozygous mutation b...

  9. Severe acute haemorrhagic gastritis controlled by hydrogen peroxide.

    Science.gov (United States)

    Katsinelos, Panagiotis; Kountouras, Jannis; Paroutoglou, George; Beltsis, Athanasios; Mimidis, Kostas; Pilpilidis, Ioannis; Zavos, Christos

    2006-01-01

    A 92-year-old woman presented with severe acute haemorrhagic gastritis due to abuse of non-steroidal anti-inflammatory drugs (NSAIDs). She was treated with instillation of 150 ml 3% hydrogen peroxide (H2O2) every 2 h via a nasogastric tube. The copious amount of bright red blood through the nasogastric tube started to decline substantially after the first administration of H2O2 and continued to reveal clear material during the second and third instillation of H2O2. The total amount of H2O2 administered was 600 ml. No rebleeding and only a few flame-shaped intramucosal haemorrhages were observed on the following four consecutive daily endoscopic evaluations. These are promising observations which will have to be confirmed with respect to the safety and efficacy of H2O2 treatment by further controlled studies.

  10. Report of nine cases of Crimean-Congo haemorrhagic fever From Iran

    Science.gov (United States)

    Ayatollahi, Jamshid; Shahcheraghi, Seyed Hossein; Mirjalili, Mahmood

    2015-01-01

    Crimean-Congo haemorrhagic fever (CCHF) is an often fatal viral infection described in about 30 countries around the world. It is transmitted to humans by the bite of an infected tick and by direct contact with blood or tissue from infected humans and livestock. In the following, we report nine cases of CCHF disease. This paper reported nine human CCHF cases, two in Tabas and Bandar Abbas and seven in Yazd. They were 21-, 33-, 28-, 29-, 61, 34, 35, 36 and 52 year-old men. The first, second and third patients were butchers and other patients were farmers. CCHF should be investigated in the patients with fever, bleeding and low platelet counts. PMID:25838635

  11. Rare problems with RhD immunoglobulin for postnatal prophylaxis after large fetomaternal haemorrhage

    Science.gov (United States)

    Kidson-Gerber, Giselle

    2015-01-01

    We report a case of unusually large fetomaternal haemorrhage in a RhD- patient; of symptomatic non-sustained haemolysis of fetal red cells in the maternal circulation with infusion of intravenous high-dose RhD immunoglobulin; and of a failure to prevent RhD alloimmunisation. The haemolytic reaction is not previously reported in this patient group and we suggest would be limited to patients where the number of fetal red cells in the circulation is high. We advocate caution in treatment and spaced dosing of RhD immunoglobulin where the required dose is high, and refer readers to the WinRhoSDF™ RhD immunoglobulin product information for their updated dosing recommendations. There is a need for better understanding of pathophysiology and RhD immunoglobulin effects, to further reduce alloimmunisation rates, and we support the reporting of prophylaxis failures to haemovigilance programmes as is in place in the United Kingdom. PMID:27512480

  12. Retroperitoneal haemorrhage in renal angiomyolipoma causing hepatic functional decompensation: a case report

    Directory of Open Access Journals (Sweden)

    Wajed Julekha R

    2007-09-01

    Full Text Available Abstract Renal angiomyolipomata usually present as incidental findings on routine imaging, but rarely they may give rise to significant haemorrhage. If bleeding occurs, first-line treatment is currently angiography with selective embolisation. Prophylactic embolisation may be considered in some cases, depending on lesion size and patient co-morbidities. We present a case of retroperitoneal bleeding from a renal angiomyolipoma in a patient with known cirrhosis of the liver, which caused acute deterioration of liver function and consequent hepatic encephalopathy. Selective embolisation of the lesion was performed with a good subsequent outcome. Such functional hepatic decompensation has not previously been reported in this context and we suggest the use of prophylactic embolisation for incidental renal angiomyolipomata, regardless of size, in all patients with chronic liver disease to prevent this potentially life-threatening complication.

  13. The Successful Use of Extracorporeal Membrane Oxygenation in Systemic Lupus Erythematosus-Induced Diffuse Alveolar Haemorrhage

    Directory of Open Access Journals (Sweden)

    Faye Pais

    2017-01-01

    Full Text Available Diffuse alveolar haemorrhage (DAH is a catastrophic pulmonary complication of systemic lupus erythematosus. It can result in refractory hypoxaemia despite mechanical ventilation. Increasing lung compliance and worsening pulmonary hypertension can potentiate cardiogenic shock from acute right ventricular failure. In such patients with cardiopulmonary collapse, veno-arterial (V-A ECMO maybe a viable option that can provide the required haemodynamic support. However, the use of V-A ECMO in such patients is limited due to an associated increased risk of bleeding. Our case report describes the successful use of V-A ECMO without the use of systemic anticoagulation in a patient with DAH. Despite the absence of systemic anticoagulation, no thrombotic complications within the circuit were noted.

  14. Acute post-stroke blood pressure relative to premorbid levels in intracerebral haemorrhage versus major ischaemic stroke: a population-based study

    Science.gov (United States)

    Fischer, Urs; Cooney, Marie Therese; Bull, Linda M; Silver, Louise E; Chalmers, John; Anderson, Craig S; Mehta, Ziyah; Rothwell, Peter M

    2014-01-01

    Summary Background It is often assumed that blood pressure increases acutely after major stroke, resulting in so-called post-stroke hypertension. In view of evidence that the risks and benefits of blood pressure-lowering treatment in acute stroke might differ between patients with major ischaemic stroke and those with primary intracerebral haemorrhage, we compared acute-phase and premorbid blood pressure levels in these two disorders. Methods In a population-based study in Oxfordshire, UK, we recruited all patients presenting with stroke between April 1, 2002, and March 31, 2012. We compared all acute-phase post-event blood pressure readings with premorbid readings from 10-year primary care records in all patients with acute major ischaemic stroke (National Institutes of Health Stroke Scale >3) versus those with acute intracerebral haemorrhage. Findings Of 653 consecutive eligible patients, premorbid and acute-phase blood pressure readings were available for 636 (97%) individuals. Premorbid blood pressure (total readings 13 244) had been measured on a median of 17 separate occasions per patient (IQR 8–31). In patients with ischaemic stroke, the first acute-phase systolic blood pressure was much lower than after intracerebral haemorrhage (158·5 mm Hg [SD 30·1] vs 189·8 mm Hg [38·5], pblood pressure after intracerebral haemorrhage was substantially higher than premorbid levels (mean increase of 40·7 mm Hg, pblood pressure also increased steeply in the days and weeks before intracerebral haemorrhage (regression pblood pressure reading after primary intracerebral haemorrhage was more likely than after ischaemic stroke to be the highest ever recorded (OR 3·4, 95% CI 2·3–5·2, pblood pressure within 3 h of onset was 50 mm Hg higher, on average, than the maximum premorbid level whereas that after ischaemic stroke was 5·2 mm Hg lower (pblood pressure is substantially raised compared with usual premorbid levels after intracerebral haemorrhage, whereas acute

  15. Experimental intracerebral haemorrhage: the effect of nimodipine pretreatment.

    OpenAIRE

    Sinar, E J; Mendelow, A D; Graham, D I; Teasdale, G M

    1988-01-01

    The effect of pretreatment with the calcium antagonist nimodipine on the pathophysiological events which follow an intracerebral haemorrhage in rats was compared with a similar control group. Cerebral blood flow was higher and the amount of pathologically determined ischaemic damage measured by light microscopy was less in the nimodipine pretreated group. Bloodbrain barrier permeability was increased in the nimodipine group, but there was no evidence of cerebral oedema. Nimodipine appeared to...

  16. Methadone, codeine and acute haemorrhagic necrotising pancreatitis: which came first?

    Science.gov (United States)

    Tormey, William P; Sabah, Muna; Moore, Tara M

    2013-03-10

    Acute haemorrhagic necrotising pancreatitis lead to the death at home of a young female who was on a methadone maintenance programme. Toxic levels of codeine with potentially lethal levels of methadone and morphine were found at post-mortem. Whether opiates caused the pancreatitis or were the consequence of self-medication for pain is impossible to differentiate. Forensic toxicology may pose the question but be unable to provide the answer. Copyright © 2013 Elsevier Ireland Ltd. All rights reserved.

  17. Effect of methylene blue on resuscitation after haemorrhagic shock.

    Science.gov (United States)

    Jeroukhimov, I; Weinbroum, A; Ben-Avraham, R; Abu-Abid, S; Michowitz, M; Kluger, Y

    2001-10-01

    To compare prehospital hypotensive resuscitation with volume resuscitation, and find out whether reagents that inhibit free-oxygen radical formation, such as methylene blue, can improve resuscitation and survival. Randomised controlled trial. Animal laboratory, Israel. 48 adult male Wistar rats. After 30 minutes of controlled haemorrhage, rats were subjected to 60 minutes of uncontrolled haemorrhage with simultaneous resuscitation. Hartmann's solution alone, or with blood or with a bolus of methylene blue were infused to maintain the mean arterial pressure (MAP) at 80 or 40 mm Hg. Then haemorrhage was stopped and Hartmann's solution plus whole blood were infused to obtain a MAP that was within normal limits. Volumes of shed blood and resuscitation fluids, MAP, packed cell volume, blood pH and base deficit, and survival. During uncontrolled haemorrhage. a MAP of 80 mm Hg could not be reached in animals resuscitated with Hartmann's solution alone, and all died. All the rats given Hartmann's solution with a bolus of methylene blue or with whole blood achieved a higher MAP. MAP of 40 mm Hg was attained in all animals regardless of the resuscitation fluid. Only 15 of 24 animals resuscitated to a MAP of 80 mm Hg survived, compared with 22 survivors of the 24 rats resuscitated to a MAP of 40 mm Hg (p <0.04). Methylene blue or whole blood drastically reduced the volumes of shed blood and of fluids required, and moderated the reduction in packed cell volume, particularly during hypotensive resuscitation. Hypotensive protocols should be used to improve survival. Methylene blue given with the electrolyte solutions could negate their detrimental effects during resuscitation.

  18. Mutations found in the Danish population causing Hereditary Hemorrhagic Telangiectasia

    DEFF Research Database (Denmark)

    Tørring, Pernille M; Brusgaard, Klaus

    2011-01-01

    been performing genetic screening of patients and relatives with HHT. The molecular genetic screening serves dual purposes, a) as part of the clinical management as genotype/phenotype correlations exists, b) to identify asymptomatic family members. Materials and Methods Inclusion of patient’s who were....... Results In 61 families we found mutations in either ENG (N=35) or ACVLR1 (N=26). In ENG a total of 22 different mutations were found 16 was unreported. In ACVLR1 24 different mutations were found 13 was unreported. The mutations were mainly of a familial character all though in ENG a single mutation...... is present in 11 families and 2 mutations are represented in 2 families. Likewise in ACVLR1 2 mutations was found in 2 different families. I ENG 1 and in ACVLR1 3 families had major deletions found by MLPA. No mutations were found in MADH4. Conclusion The majority of mutations found during clinical genetic...

  19. Dano e reparo de dna em indivíduos com ataxia-telangiectasia e em seus pais heterozigotos

    OpenAIRE

    Roberta Passos Palazzo

    2010-01-01

    A presente pesquisa pretende demonstrar evidências capazes de contribuir para o entendimento dos mecanismos envolvidos na ataxia-telangiectasia, bem como oferecer dados que auxiliem na implementação de técnicas complementares ao diagnóstico desta síndrome. Desde a descoberta do gene envolvido na ataxia-telangiectasia (o gene ATM), muito conhecimento tem sido acumulado, especialmente sobre os mecanismos moleculares envolvidos na síndrome, bem como nas respectivas doenças relacionadas. Este est...

  20. Analysis of Residual DSBs in Ataxia-Telangiectasia Lymphoblast Cells Initiating Apoptosis

    Directory of Open Access Journals (Sweden)

    Teresa Anglada

    2016-01-01

    Full Text Available In order to examine the relationship between accumulation of residual DNA double-strand breaks (DSBs and cell death, we have used a control and an ATM (Ataxia-Telangiectasia Mutated defective cell line, as Ataxia-Telangiectasia (AT cells tend to accumulate residual DSBs at long times after damage infliction. After irradiation, AT cells showed checkpoint impairment and a fraction of cells displayed an abnormal centrosome number and tetraploid DNA content, and this fraction increased along with apoptosis rates. At all times analyzed, AT cells displayed a significantly higher rate of radiation-induced apoptosis than normal cells. Besides apoptosis, 70–85% of the AT viable cells (TUNEL-negative carried ≥10 γH2AX foci/cell, while only 12–27% of normal cells did. The fraction of AT and normal cells undergoing early and late apoptosis were isolated by flow cytometry and residual DSBs were concretely scored in these populations. Half of the γH2AX-positive AT cells undergoing early apoptosis carried ≥10 γH2AX foci/cell and this fraction increased to 75% in late apoptosis. The results suggest that retention of DNA damage-induced γH2AX foci is an indicative of lethal DNA damage, as cells undergoing apoptosis are those accumulating more DSBs. Scoring of residual γH2AX foci might function as a predictive tool to assess radiation-induced apoptosis.

  1. Multimodality imaging in macular telangiectasia 2: A clue to its pathogenesis

    Directory of Open Access Journals (Sweden)

    Lihteh Wu

    2015-01-01

    Full Text Available Macular telangiectasia type 2 also known as idiopathic perifoveal telangiectasia and juxtafoveolar retinal telangiectasis type 2A is an acquired bilateral neurodegenerative macular disease that manifests itself during the fifth or sixth decades of life. It is characterized by minimal dilatation of the parafoveal capillaries with graying of the retinal area involved, a lack of lipid exudation, right-angled retinal venules, refractile deposits in the superficial retina, hyperplasia of the retinal pigment epithelium, foveal atrophy, and subretinal neovascularization (SRNV. Our understanding of the disease has paralleled advances in multimodality imaging of the fundus. Optical coherence tomography (OCT images typically demonstrate the presence of intraretinal hyporeflective spaces that are usually not related to retinal thickening or fluorescein leakage. The typical fluorescein angiographic (FA finding is a deep intraretinal hyperfluorescent staining in the temporal parafoveal area. With time, the staining may involve the whole parafoveal area but does not extend to the center of the fovea. Long-term prognosis for central vision is poor, because of the development of SRNV or macular atrophy. Its pathogenesis remains unclear but multimodality imaging with FA, spectral domain OCT, adaptive optics, confocal blue reflectance and short wave fundus autofluorescence implicate Müller cells and macular pigment. Currently, there is no known treatment for this condition.

  2. Mutation analysis in Norwegian families with hereditary hemorrhagic telangiectasia: founder mutations in ACVRL1.

    Science.gov (United States)

    Heimdal, K; Dalhus, B; Rødningen, O K; Kroken, M; Eiklid, K; Dheyauldeen, S; Røysland, T; Andersen, R; Kulseth, M A

    2016-02-01

    Hereditary hemorrhagic telangiectasia (HHT, Osler-Weber-Rendu disease) is an autosomal dominant inherited disease defined by the presence of epistaxis and mucocutaneous telangiectasias and arteriovenous malformations (AVMs) in internal organs. In most families (~85%), HHT is caused by mutations in the ENG (HHT1) or the ACVRL1 (HHT2) genes. Here, we report the results of genetic testing of 113 Norwegian families with suspected or definite HHT. Variants in ENG and ACVRL1 were found in 105 families (42 ENG, 63 ACVRL1), including six novel variants of uncertain pathogenic significance. Mutation types were similar to previous reports with more missense variants in ACVRL1 and more nonsense, frameshift and splice-site mutations in ENG. Thirty-two variants were novel in this study. The preponderance of ACVRL1 mutations was due to founder mutations, specifically, c.830C>A (p.Thr277Lys), which was found in 24 families from the same geographical area of Norway. We discuss the importance of founder mutations and present a thorough evaluation of missense and splice-site variants. © 2015 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

  3. Neurodegeneration in ataxia-telangiectasia: Multiple roles of ATM kinase in cellular homeostasis.

    Science.gov (United States)

    Choy, Kay Rui; Watters, Dianne J

    2017-05-22

    Ataxia-telangiectasia (A-T) is characterized by neuronal degeneration, cancer, diabetes, immune deficiency, and increased sensitivity to ionizing radiation. A-T is attributed to the deficiency of the protein kinase coded by the ATM (ataxia-telangiectasia mutated) gene. ATM is a sensor of DNA double-strand breaks (DSBs) and signals to cell cycle checkpoints and the DNA repair machinery. ATM phosphorylates numerous substrates and activates many cell-signaling pathways. There has been considerable debate about whether a defective DNA damage response is causative of the neurological aspects of the disease. In proliferating cells, ATM is localized mainly in the nucleus; however, in postmitotic cells such as neurons, ATM is mostly cytoplasmic. Recent studies reveal an increasing number of roles for ATM in the cytoplasm, including activation by oxidative stress. ATM associates with organelles including mitochondria and peroxisomes, both sources of reactive oxygen species (ROS), which have been implicated in neurodegenerative diseases and aging. ATM is also associated with synaptic vesicles and has a role in regulating cellular homeostasis and autophagy. The cytoplasmic roles of ATM provide a new perspective on the neurodegenerative process in A-T. This review will examine the expanding roles of ATM in cellular homeostasis and relate these functions to the complex A-T phenotype. Developmental Dynamics, 2017. © 2017 Wiley Periodicals, Inc. © 2017 Wiley Periodicals, Inc.

  4. Secondary postpartum haemorrhage with uterine artery ...

    African Journals Online (AJOL)

    a left uterine artery PA, which measured 4 cm in diameter, with extravasation of contrast into a pocket that connected to the uterine cavity. After obtaining the patient's consent, selective left uterine artery embolisation was performed with a mixture of Gelfoam and contrast media, followed by one stainless steel coil insertion.

  5. Clinical implications of microvascular obstruction and intramyocardial haemorrhage in acute myocardial infarction using cardiovascular magnetic resonance imaging

    Energy Technology Data Exchange (ETDEWEB)

    Bekkers, Sebastiaan C.A.M.; Smulders, Martijn W.; Waltenberger, Johannes; Gorgels, Anton P.M.; Schalla, Simon [Maastricht University Medical Center, Department of Cardiology, Maastricht (Netherlands); Passos, Valeria Lima [Maastricht University Medical Center, Department of Methodology and Statistics, Maastricht (Netherlands); Leiner, Tim [Maastricht University Medical Center, Department of Radiology, Maastricht (Netherlands)

    2010-11-15

    To investigate the clinical implications of microvascular obstruction (MVO) and intramyocardial haemorrhage (IMH) in acute myocardial infarction (AMI). Ninety patients with a first AMI undergoing primary percutaneous coronary intervention (PCI) were studied. T2-weighted, cine and late gadolinium-enhanced cardiovascular magnetic resonance imaging was performed at 5 {+-} 2 and 103 {+-} 11 days. Patients were categorised into three groups based on the presence or absence of MVO and IMH. MVO was observed in 54% and IMH in 43% of patients, and correlated significantly (r = 0.8, p < 0.001). Pre-PCI thrombolysis in myocardial infarction 3 flow was only observed in MVO(-)/IMH(-) patients. Infarct size and impairment of systolic function were largest in MVO(+)/IMH(+) patients (n = 39, 23 {+-} 9% and 47 {+-} 7%), smallest in MVO(-)/IMH(-) patients (n = 41, 8 {+-} 8% and 55 {+-} 8%) and intermediate in MVO(+)/IMH(-) patients (n = 10, 16 {+-} 7% and 51 {+-} 6%, p < 0.001). LVEF increased in all three subgroups at follow-up, but remained intermediate in MVO(+)/IMH(-) and was lowest in MVO(+)/IMH(+) patients. Using random intercept model analysis, only infarct size was an independent predictor for adverse LV remodelling. Intramyocardial haemorrhage and microvascular obstruction are strongly related. Pre-PCI TIMI 3 flow is less frequently observed in patients with MVO and IMH. Only infarct size was an independent predictor of LV remodelling. (orig.)

  6. Valved or valveless ventriculoperitoneal shunting in the treatment of post-haemorrhagic hydrocephalus

    DEFF Research Database (Denmark)

    Andreasen, Trine Hjorslev; Holst, Anders Vedel; Lilja, Alexander

    2016-01-01

    with ventriculoperitoneal shunting at our institution from 1 January 2008 to 31 December 2014 were included in this retrospective population-based consecutive cohort study. Data were collected by retrospectively reviewing medical records. We compared two different shunt modalities (valveless vs valve-regulated), analysing.......3 %, p = 0.02), but a higher rate of overdrainage (10.3 % vs 2.6 %, p = 0.04). CONCLUSION: The use of a valveless shunting for patients with post-haemorrhagic hydrocephalus results in shorter duration of neurosurgical hospitalisation and lower rate of shunt infection, although these advantages should...... be held up against the risk of overdrainage. We propose valveless shunting to be used as first-line shunting strategy in this patient category, with careful follow-up ensuring that these are substituted by a valve-bearing system if necessary....

  7. Oxidative stress, mitochondrial abnormalities and antioxidant defense in Ataxia-telangiectasia, Bloom syndrome and Nijmegen breakage syndrome.

    Science.gov (United States)

    Maciejczyk, Mateusz; Mikoluc, Bozena; Pietrucha, Barbara; Heropolitanska-Pliszka, Edyta; Pac, Malgorzata; Motkowski, Radosław; Car, Halina

    2017-04-01

    Rare pleiotropic genetic disorders, Ataxia-telangiectasia (A-T), Bloom syndrome (BS) and Nijmegen breakage syndrome (NBS) are characterised by immunodeficiency, extreme radiosensitivity, higher cancer susceptibility, premature aging, neurodegeneration and insulin resistance. Some of these functional abnormalities can be explained by aberrant DNA damage response and chromosomal instability. It has been suggested that one possible common denominator of these conditions could be chronic oxidative stress caused by endogenous ROS overproduction and impairment of mitochondrial homeostasis. Recent studies indicate new, alternative sources of oxidative stress in A-T, BS and NBS cells, including NADPH oxidase 4 (NOX4), oxidised low-density lipoprotein (ox-LDL) or Poly (ADP-ribose) polymerases (PARP). Mitochondrial abnormalities such as changes in the ultrastructure and function of mitochondria, excess mROS production as well as mitochondrial damage have also been reported in A-T, BS and NBS cells. A-T, BS and NBS cells are inextricably linked to high levels of reactive oxygen species (ROS), and thereby, chronic oxidative stress may be a major phenotypic hallmark in these diseases. Due to the presence of mitochondrial disturbances, A-T, BS and NBS may be considered mitochondrial diseases. Excess activity of antioxidant enzymes and an insufficient amount of low molecular weight antioxidants indicate new pharmacological strategies for patients suffering from the aforementioned diseases. However, at the current stage of research we are unable to ascertain if antioxidants and free radical scavengers can improve the condition or prolong the survival time of A-T, BS and NBS patients. Therefore, it is necessary to conduct experimental studies in a human model. Copyright © 2017 The Authors. Published by Elsevier B.V. All rights reserved.

  8. Oxidative stress, mitochondrial abnormalities and antioxidant defense in Ataxia-telangiectasia, Bloom syndrome and Nijmegen breakage syndrome

    Directory of Open Access Journals (Sweden)

    Mateusz Maciejczyk

    2017-04-01

    Full Text Available Rare pleiotropic genetic disorders, Ataxia-telangiectasia (A-T, Bloom syndrome (BS and Nijmegen breakage syndrome (NBS are characterised by immunodeficiency, extreme radiosensitivity, higher cancer susceptibility, premature aging, neurodegeneration and insulin resistance. Some of these functional abnormalities can be explained by aberrant DNA damage response and chromosomal instability. It has been suggested that one possible common denominator of these conditions could be chronic oxidative stress caused by endogenous ROS overproduction and impairment of mitochondrial homeostasis. Recent studies indicate new, alternative sources of oxidative stress in A-T, BS and NBS cells, including NADPH oxidase 4 (NOX4, oxidised low-density lipoprotein (ox-LDL or Poly (ADP-ribose polymerases (PARP. Mitochondrial abnormalities such as changes in the ultrastructure and function of mitochondria, excess mROS production as well as mitochondrial damage have also been reported in A-T, BS and NBS cells. A-T, BS and NBS cells are inextricably linked to high levels of reactive oxygen species (ROS, and thereby, chronic oxidative stress may be a major phenotypic hallmark in these diseases. Due to the presence of mitochondrial disturbances, A-T, BS and NBS may be considered mitochondrial diseases. Excess activity of antioxidant enzymes and an insufficient amount of low molecular weight antioxidants indicate new pharmacological strategies for patients suffering from the aforementioned diseases. However, at the current stage of research we are unable to ascertain if antioxidants and free radical scavengers can improve the condition or prolong the survival time of A-T, BS and NBS patients. Therefore, it is necessary to conduct experimental studies in a human model.

  9. Small-molecule inhibitors of Ataxia Telangiectasia and Rad3 related kinase (ATR) sensitize lymphoma cells to UVA radiation

    DEFF Research Database (Denmark)

    Biskup, Edyta; Naym, David Gram; Gniadecki, Robert

    2016-01-01

    and require more aggressive therapies. OBJECTIVE: The aim of this project was to investigate whether inhibition of Ataxia Telangiectasia and Rad3 related kinase (ATR) may enhance efficacy of phototherapy. METHODS: CTCL cell lines (MyLa2000, SeAx and Mac2a) served as in vitro cell models. ATR and Chk1 were...

  10. Ataxia Telangiectasia

    Science.gov (United States)

    ... Research Funded by NINDS Basic Neuroscience Clinical Research Translational Research Research at NINDS Focus on Research Alzheimer's & Related Dementias Bioengineering Epilepsy Health Disparities Neural Interfaces Parkinson's Disease Spinal Cord Injury ...

  11. Ataxia Telangiectasia

    Science.gov (United States)

    ... Español 1-800-4-CANCER Live Chat Publications Dictionary Menu Contact Dictionary Search About Cancer Causes and Prevention Risk Factors ... my chances of getting breast cancer? What about environmental sources of radiation, such as cellular phones? Should ...

  12. Intraoperative haemorrhage associated with the use of extract of Saw Palmetto herb: a case report and review of literature.

    Science.gov (United States)

    Cheema, P; El-Mefty, O; Jazieh, A R

    2001-08-01

    The significant increase in the use of alternative medicine in general and the herbal and dietary supplement in particular represents a challenge to the health care professionals. Because of their unregulated use, physicians are encountering increasing numbers of toxicities and untoward events. We report a case of severe intraoperative haemorrhage in a patient who was taking the herb Saw Palmetto. His bleeding time which was prolonged, normalized few days after he stopped the herb. This case should increase the awareness of physicians to such possible complications and encourage them to enquire thoroughly about the use of any dietary supplement in all their patients.

  13. The Massive Bleeding after the Operation of Hip Joint Surgery with the Acquired Haemorrhagic Coagulation Factor XIII(13 Deficiency: Two Case Reports

    Directory of Open Access Journals (Sweden)

    Akio Kanda

    2013-01-01

    Full Text Available Two women, aged 81 and 61, became haemorrhagic after surgery. Their previous surgeries were uneventful with no unexpected bleeding observed. Blood tests prior to the current surgeries indicated normal values including those related to coagulation. There were no problems with the current surgeries prior to leaving the operating room. At 3 hours after the surgery, the 81-year-old patient had an outflow of the drain at 1290 grams and her blood pressure decreased. She had disseminated intravascular coagulation (DIC. The 61-year-old woman had repeated haemorrhages after her current surgery for a long time. Their abnormal haemorrhages were caused by a deficiency of coagulation factor XIII(13. The mechanism of haemorrhagic coagulation factor XIII(13 deficiency is not understood, and it is a rare disorder. The only diagnostic method to detect this disorder is to measure factor XIII(13 activity in the blood. In this paper, we used Arabic and Roman numerals at the same time to avoid confusion of coagulation factor XIII(13 with coagulation factor VIII(8 that causes hemophilia A.

  14. Genetic, physical and functional analysis of the ataxia-telangiectasia locus on chromosome 11q22-23

    Energy Technology Data Exchange (ETDEWEB)

    Shiloh, Y.; Ziv, Y.; Savitski, K. [Tel Aviv Univ. (Israel)] [and others

    1994-09-01

    Ataxia-telangiectasia (A-T) is an autosomal recessive multisystem disorder featuring cerebellar degeneration, immunodeficiency, chromosomal instability, cancer susceptibility, and radiosensitivity. Four complementation groups have been observed in A-T. The two major groups, A and C, were localized to chromosome 11q22-23, and the other two, D and E, may map to the same chromosomal region. We developed an integrated system of positional and complementation cloning to identify the A-T gene(s). The A-T region was saturated with microsatellite markers by physically mapping markers generated at random by other labs and by identifying new polymorphic CA-repeats in YAC clones obtained from this region. According to recent linkage data based on these markers and linkage disequilibrium analysis in Moroccan Jewish A-T patients, the A-T(A) and A-T(C) mutations are contained within a 2 Mb interval between D11S1819 and D11S1960. This interval was cloned in YAC and cosmid contigs, and transcribed sequences were identified using the following methods: screening of cDNA libraries using cosmid clones; magnetic bead capture using YAC and cosmid clones; direct selection of cDNA clones using YAC clones immobilized on a solid matrix; and 3{prime} exon trapping. Preliminary results indicate that the A-T region is rich in transcribed sequences. Structural and functional analysis of these genes is being carried out by sequence analysis, by physical mapping using the cosmid contigs, and by testing their ability to complement the radiomimetic sensitivity of A-T cells.

  15. Trends in monitoring patients with aneurysmal subarachnoid haemorrhage

    DEFF Research Database (Denmark)

    Springborg, J B; Frederiksen, H-J; Eskesen, V

    2005-01-01

    complications. Currently, several neuro-monitoring techniques are available; this review describes the most frequently used techniques and discusses indications for their use, and their value in diagnosis and prognosis. None of the techniques, when considered in isolation, has proved sufficient after SAH...

  16. Excessive work and risk of haemorrhagic stroke: a nationwide case-control study.

    Science.gov (United States)

    Kim, Beom Joon; Lee, Seung-Hoon; Ryu, Wi-Sun; Kim, Chi Kyung; Chung, Jong-Won; Kim, Dohoung; Park, Hong-Kyun; Bae, Hee-Joon; Park, Byung-Joo; Yoon, Byung-Woo

    2013-10-01

    Adverse effect of excessive work on health has been suggested previously, but it was not documented in cerebrovascular diseases. The authors investigated whether excessive working conditions would associate with increased risk of haemorrhagic stroke. A nationwide matched case-control study database, which contains 940 cases of incident haemorrhagic stroke (498 intracerebral haemorrhages and 442 sub-arachnoid haemorrhages) with 1880 gender- and age- (± 5-year) matched controls, was analysed. Work-related information based on the regular job situation, including type of occupation, regular working time, duration of strenuous activity during regular work and shift work, was gathered through face-to-face interviews. Conditional logistic regression analyses were used for the multivariable analyses. Compared with white-collar workers, blue-collar workers had a higher risk for haemorrhagic stroke (odds ratio, 1.33 [95% confidence interval, 1.06-1.66]). Longer regular working time was associated with increased risk of haemorrhagic stroke [odds ratio, 1.38 (95% confidence interval, 1.05-1.81) for 8-12 h/day; odds ratio, 1.95 (95% confidence interval, 1.33-2.86) for ≥ 13 h/day; compared with ≤ 4 h/day]. Exposure to ≥ 8 h/week of strenuous activity also associated haemorrhagic stroke risk [odds ratio, 1.61 (95% confidence interval, 1.26-2.05); compared with no strenuous activity]. Shift work was not associated with haemorrhagic stroke (P = 0.98). Positive associations between working condition indices and haemorrhagic stroke risk were consistent regardless of haemorrhagic stroke sub-types and current employment status. Blue-collar occupation, longer regular working time and extended duration of strenuous activity during work may relate to an increased risk of haemorrhagic stroke. © 2012 The Authors. International Journal of Stroke © 2012 World Stroke Organization.

  17. Pre-eclampsia increases the risk of postpartum haemorrhage: a nationwide cohort study in the Netherlands.

    Directory of Open Access Journals (Sweden)

    Joost F von Schmidt auf Altenstadt

    Full Text Available BACKGROUND: Postpartum haemorrhage is a leading cause of maternal morbidity and mortality worldwide. Identifying risk indicators for postpartum haemorrhage is crucial to predict this life threatening condition. Another major contributor to maternal morbidity and mortality is pre-eclampsia. Previous studies show conflicting results in the association between pre-eclampsia and postpartum haemorrhage. The primary objective of this study was to investigate the association between pre-eclampsia and postpartum haemorrhage. Our secondary objective was to identify other risk indicators for postpartum haemorrhage in the Netherlands. METHODS: A nationwide cohort was used, containing prospectively collected data of women giving birth after 19 completed weeks of gestation from January 2000 until January 2008 (n =  1,457,576. Data were extracted from the Netherlands Perinatal Registry, covering 96% of all deliveries in the Netherlands. The main outcome measure, postpartum haemorrhage, was defined as blood loss of ≥1000 ml in the 24 hours following delivery. The association between pre-eclampsia and postpartum haemorrhage was investigated with uni- and multivariable logistic regression analyses. RESULTS: Overall prevalence of postpartum haemorrhage was 4.3% and of pre-eclampsia 2.2%. From the 31 560 women with pre-eclampsia 2 347 (7.4% developed postpartum haemorrhage, compared to 60 517 (4.2% from the 1 426 016 women without pre-eclampsia (odds ratio 1.81; 95% CI 1.74 to 1.89. Risk of postpartum haemorrhage in women with pre-eclampsia remained increased after adjusting for confounders (adjusted odds ratio 1.53; 95% CI 1.46 to 1.60. CONCLUSION: Women with pre-eclampsia have a 1.53 fold increased risk for postpartum haemorrhage. Clinicians should be aware of this and use this knowledge in the management of pre-eclampsia and the third stage of labour in order to reach the fifth Millenium Developmental Goal of reducing maternal mortality ratios with 75% by

  18. Evolution of the fish rhabdovirus viral haemorrhagic septicaemia virus

    DEFF Research Database (Denmark)

    Einer-Jensen, Katja; Ahrens, Peter; Forsberg, Roald

    2004-01-01

    Viral haemorrhagic septicaemia (VHS) caused by the rhabdovirus VHSV is economically the most important viral disease in European rainbow trout farming. Until 1989, this virus was mainly isolated from freshwater salmonids but in the last decade, it has also been isolated from an increasing number...... of free-living marine fish species. To study the genetic evolution of VHSV, the entire G gene from 74 isolates was analysed. VHSV from wild marine species caught in the Baltic Sea, Skagerrak, Kattegat, North Sea, and English Channel and European freshwater isolates, appeared to share a recent common...

  19. A Case of Haemorrhagic Constrictive Pericarditis with Bilateral Pleural Effusions

    Directory of Open Access Journals (Sweden)

    Hans A. Reyes

    2016-01-01

    Full Text Available Presentation of pericardial disease is diverse, with the viral aetiology being the most common cause; however, when haemorrhagic pericardial effusion is present, these causes are narrowed to few aetiologies. We present a case of a young female of African descent who presented with diffuse abdominal pain and vomiting. Initial work-up showed pericardial effusion with impending echocardiographic findings of cardiac tamponade and bilateral pleural effusions. Procedures included a left video-assisted thoracoscopic surgery (VATS with pericardial window. We consider that it is important for all physicians to be aware of not only typical presentation but also atypical and unusual clinical picture of pericardial disease.

  20. Spinal leptomeningeal metastases of giant cell glioblastoma associated with subarachnoid haemorrhage: case report.

    Science.gov (United States)

    Chang, C C; Kuwana, N; Ito, S; Koike, Y; Kitamura, H

    2001-01-01

    A case of subarachnoid haemorrhage (SAH) due to spinal leptomeningeal metastases of a giant cell glioblastoma is described. A 51 year old male presented with a four week history of headache. Neurological examination was normal except for a slight left hemiparesis. Computed tomography (CT) revealed a large cyst with a mural nodule in the right temporal lobe. The tumour was removed followed by 60 Gy of radiation therapy. Thirty-two months later he developed headache and shoulder pain with symptoms of normal pressure hydrocephalus. Head CT showed ventriculomegaly and SAH. Magnetic resonance imaging showed spinal leptomeningeal metastases at the C4-5, T12, and L2 levels, but no local recurrence or tumour dissemination in the brain. He died 34 months after surgery. Autopsy revealed diffuse SAH over the whole brain and spinal cord, associated with spinal leptomeningeal metastases, but no cerebral aneurysms. Spinal radiotherapy and ventriculoperitoneal shunting could possibly have extended survival in this patient.

  1. Crystals seen on CSF microscopy in a case of suspected subarachnoid haemorrhage

    Science.gov (United States)

    Weiand, Daniel; Hanning, Ian; Mouhamadou, Moussa; Wearmouth, Debbie

    2015-01-01

    Although crystals are rarely identified on cerebrospinal fluid (CSF) microscopy, their presence can be of significant diagnostic value. We report a case of oxalate crystals seen on CSF microscopy of a 43-year-old woman. The patient presented with headaches, nausea and vomiting. CT of the head showed a small focus of hyper-density, suspicious of haemorrhage, in the right side of the pontine cistern. CSF cell count was within the normal range. Although no organisms were seen on microscopy, copious oxalate crystals were seen. The same crystals were seen on microscopy of CSF collected in a fluoride oxalate container used for glucose analysis. A follow-up contrast-enhanced CT angiogram did not demonstrate any abnormalities. It transpired that excess CSF had been collected into a fluoride oxalate container. This had subsequently been decanted into a plain container for microbiological analysis. Correct specimen collection should be emphasised when teaching lumbar puncture technique. PMID:26139652

  2. Reducing Haemorrhagic Transformation after Thrombolysis for Stroke: A Strategy Utilising Minocycline

    Directory of Open Access Journals (Sweden)

    David J. Blacker

    2013-01-01

    Full Text Available Haemorrhagic transformation (HT of recently ischaemic brain is a feared complication of thrombolytic therapy that may be caused or compounded by ischaemia-induced activation of matrix metalloproteinases (MMPs. The tetracycline antibiotic minocycline inhibits matrix MMPs and reduces macroscopic HT in rodents with stroke treated with tissue plasminogen activator (tPA. The West Australian Intravenous Minocycline and TPA Stroke Study (WAIMATSS aims to determine the safety and efficacy of adding minocycline to tPA in acute ischaemic stroke. The WAIMATSS is a multicentre, prospective, and randomised pilot study of intravenous minocycline, 200 mg 12 hourly for 5 doses, compared with standard care, in patients with ischaemic stroke treated with intravenous tPA. The primary endpoint is HT diagnosed by brain CT and MRI. Secondary endpoints include clinical outcome measures. Some illustrative cases from the early recruitment phase of this study will be presented, and future perspectives will be discussed.

  3. Not All Acute Abdomen Cases in Early Pregnancy Are Ectopic; Expect the Unexpected: Renal Angiomyolipoma Causing Massive Retroperitoneal Haemorrhage

    Directory of Open Access Journals (Sweden)

    Muhammad Asim Rana

    2016-01-01

    Full Text Available Retroperitoneal haemorrhage (or retroperitoneal haematoma refers to an accumulation of blood found in the retroperitoneal space. It is a rare clinical entity with variable aetiology including anticoagulation, ruptured aortic aneurysm, acute pancreatitis, malignancy, and bleeding from renal aneurysm. Diagnosis of retroperitoneal bleed is sometimes missed or delayed as presentation is often nonspecific. Multislice CT and arteriography are important for diagnosis. There is no consensus about the best management plan for patients with retroperitoneal haematoma. Stable patients can be managed with fluid resuscitation, correction of coagulopathy if any, and blood transfusion. Endovascular options involving selective intra-arterial embolisation or stent-grafts are clearly getting more and more popularity. Open repair is usually reserved for cases when there is failure of conservative or endovascular measures to control the bleeding or expertise is unavailable and in cases where the patient is unstable. Mortality of patients with retroperitoneal haematoma remains high if appropriate and timely measures are not taken. Haemorrhage from a benign renal tumour is a rarer entity which is described in this case report which emphasizes that physicians should have a wide index of suspicion when dealing with patients presenting with significant groin, flank, abdominal, or back pain, or haemodynamic instability of unclear cause. Our patient presented with features of acute abdomen and, being pregnant, was thought of having a ruptured ectopic pregnancy.

  4. Not All Acute Abdomen Cases in Early Pregnancy Are Ectopic; Expect the Unexpected: Renal Angiomyolipoma Causing Massive Retroperitoneal Haemorrhage

    Science.gov (United States)

    Mady, Ahmed F.; Jakaraddi, Nagesh; Naser, Kamal

    2016-01-01

    Retroperitoneal haemorrhage (or retroperitoneal haematoma) refers to an accumulation of blood found in the retroperitoneal space. It is a rare clinical entity with variable aetiology including anticoagulation, ruptured aortic aneurysm, acute pancreatitis, malignancy, and bleeding from renal aneurysm. Diagnosis of retroperitoneal bleed is sometimes missed or delayed as presentation is often nonspecific. Multislice CT and arteriography are important for diagnosis. There is no consensus about the best management plan for patients with retroperitoneal haematoma. Stable patients can be managed with fluid resuscitation, correction of coagulopathy if any, and blood transfusion. Endovascular options involving selective intra-arterial embolisation or stent-grafts are clearly getting more and more popularity. Open repair is usually reserved for cases when there is failure of conservative or endovascular measures to control the bleeding or expertise is unavailable and in cases where the patient is unstable. Mortality of patients with retroperitoneal haematoma remains high if appropriate and timely measures are not taken. Haemorrhage from a benign renal tumour is a rarer entity which is described in this case report which emphasizes that physicians should have a wide index of suspicion when dealing with patients presenting with significant groin, flank, abdominal, or back pain, or haemodynamic instability of unclear cause. Our patient presented with features of acute abdomen and, being pregnant, was thought of having a ruptured ectopic pregnancy. PMID:27429809

  5. Subarachnoid haemorrhage imitating acute coronary syndrome as a cause of out-of-hospital cardiac arrest - case report.

    Science.gov (United States)

    Lewandowski, Paweł

    2014-01-01

    Severe subarachnoid haemorrhage (SAH) is a common cause of cardiac arrest. The survival of patients with out-of-hospital cardiac arrest (OHCA) due to SAH is extremely poor. Electrocardiographic and echocardiographic changes associated with SAH may mimic changes caused by acute coronary syndromes (ACS) and thus lead to delayed treatment of the primary disease. Misdiagnosed SAH due to ACS mask can have an influence on patient outcomes. A 47-year-old man presented with a history of out-of-hospital cardiac arrest due to asystole. He had a medical history of hypertension, smoking, and a diffuse, severe headache for one week. The ECG showed atrial fibrillation, 0,2 mV ST-segment elevation in leads aVR and V1-V3 and 0.2 mV ST-segment depression in leads I, II, aVL and V4-V6. Echocardiography revealed left ventricular function impairment (ejection fraction < 20%). The CK-MB activity was 98 U L⁻¹ and the troponin I concentration was 0.59 μg L⁻¹. ACS was suspected. Coronarography did not reveal any changes in the coronary arteries. An urgent CT of the head was arranged and showed an extensive SAH. It appears that an urgent CT of the head is the most effective method for the early identification of SAH-induced OHCA, especially in patients with prodromal headache, no history of the symptoms of ACS and CA due to asystole/pulseless electrical activity (PEA). Out-of-hospital cardiac arrest (OHCA) predominantly develops due to acute coronary syndrome (ACS). Extra-cardiac causes, e.g., subarachnoid haemorrhage (SAH), are less common. The purpose of the present case report was to describe a patient with OHCA due to subarachnoid haemorrhage imitating acute coronary syndrome.

  6. Cell and Molecular Biology of Ataxia Telangiectasia Heterozygous Human Mammary Epithelial Cells Irradiated in Culture

    Science.gov (United States)

    Richmond, Robert C.

    2001-01-01

    Autologous isolates of cell types from obligate heterozygotes with the autosomal disorder ataxia-telangiectasia (A-T)were used to begin a tissue culture model for assessing pathways of radiation-induced cancer formation in this target tissue. This was done by establishing cultures of stromal fibroblasts and long-term growth human mammary epithelial cells (HMEC) in standard 2-dimensional tissue culture in order to establish expression of markers detailing early steps of carcinogenesis. The presumptive breast cancer susceptibility of A-T heterozygotes as a sequel to damage caused by ionizing radiation provided reason to study expression of markers in irradiated HMEC. Findings from our study with HMEC have included determination of differences in specific protein expression amongst growth phase (e.g., log vs stationary) and growth progression (e.g., pass 7 vs pass 9), as well as differences in morphologic markers within populations of irradiated HMEC (e.g., development of multinucleated cells).

  7. International multicentre validation of the arteriovenous malformation-related intracerebral haemorrhage (AVICH) score.

    Science.gov (United States)

    Neidert, Marian C; Lawton, Michael T; Kim, Louis J; Nerva, John D; Kurisu, Kaoru; Ikawa, Fusao; Konczalla, Juergen; Dinc, Nazife; Seifert, Volker; Habdank-Kolaczkowski, Julian; Hatano, Taketo; Hayase, Makoto; Podlesek, Dino; Schackert, Gabriele; Wanet, Thomas; Gläsker, Sven; Griessenauer, Christoph J; Ogilvy, Christopher S; Kneist, Andreas; Sure, Ulrich; Seifert, Burkhardt; Regli, Luca; Bozinov, Oliver; Burkhardt, Jan-Karl

    2017-10-06

    The recently published arteriovenous malformation-related intracerebral haemorrhage (AVICH) score showed better outcome prediction for patients with arteriovenous malformation (AVM)-related intracerebral haemorrhage (ICH) than other AVM or ICH scores. Here we present the results of a multicentre, external validation of the AVICH score. All participating centres (n=11) provided anonymous data on 325 patients to form the Spetzler-Martin (SM) grade, the supplemented SM (sSM) grade, the ICH score and the AVICH score. Modified Rankin score (mRS) at last follow-up (mean 25.6 months) was dichotomized into favourable (mRS 0-2, n=210) and unfavourable (mRS 3-6;n=115). Univariate and AUROC analyses were performed to validate the AVICH score. Except nidus structure and AVM size, all single parameters forming the SM, sSM, ICH and AVICH score and the scores itself were significantly different between both outcome groups in the univariate analysis. The AVICH score was confirmed to be the highest predictive outcome score with an AUROC of 0.765 compared with 0.705 for the ICH score and 0.682 for the sSM grade. The multicentre-validated AVICH score predicts clinical outcome superior to pre-existing scores. We suggest the routine use of this score for future clinical outcome prediction and in clinical research. NCT02920645. © Article author(s) (or their employer(s) unless otherwise stated in the text of the article) 2017. All rights reserved. No commercial use is permitted unless otherwise expressly granted.

  8. Mutation of ataxia-telangiectasia mutated is associated with dysfunctional glutathione homeostasis in cerebellar astroglia.

    Science.gov (United States)

    Campbell, Andrew; Bushman, Jared; Munger, Joshua; Noble, Mark; Pröschel, Christoph; Mayer-Pröschel, Margot

    2016-02-01

    Astroglial dysfunction plays an important role in neurodegenerative diseases otherwise attributed to neuronal loss of function. Here we focus on the role of astroglia in ataxia-telangiectasia (A-T), a disease caused by mutations in the ataxia-telangiectasia mutated (ATM) gene. A hallmark of A-T pathology is progressive loss of cerebellar neurons, but the mechanisms that impact neuronal survival are unclear. We now provide a possible mechanism by which A-T astroglia affect the survival of cerebellar neurons. As astroglial functions are difficult to study in an in vivo setting, particularly in the cerebellum where these cells are intertwined with the far more numerous neurons, we conducted in vitro coculture experiments that allow for the generation and pharmacological manipulation of purified cell populations. Our analyses revealed that cerebellar astroglia isolated from Atm mutant mice show decreased expression of the cystine/glutamate exchanger subunit xCT, glutathione (GSH) reductase, and glutathione-S-transferase. We also found decreased levels of intercellular and secreted GSH in A-T astroglia. Metabolic labeling of l-cystine, the major precursor for GSH, revealed that a key component of the defect in A-T astroglia is an impaired ability to import this rate-limiting precursor for the production of GSH. This impairment resulted in suboptimal extracellular GSH supply, which in turn impaired survival of cerebellar neurons. We show that by circumventing the xCT-dependent import of L-cystine through addition of N-acetyl-L-cysteine (NAC) as an alternative cysteine source, we were able to restore GSH levels in A-T mutant astroglia providing a possible future avenue for targeted therapeutic intervention. © 2015 Wiley Periodicals, Inc.

  9. A composite neurobehavioral test to evaluate acute functional deficits after cerebellar haemorrhage in rats.

    Science.gov (United States)

    McBride, Devin W; Nowrangi, Derek; Kaur, Harpreet; Wu, Guangyong; Huang, Lei; Lekic, Tim; Tang, Jiping; Zhang, John H

    2017-01-01

    Cerebellar haemorrhage accounts for 5-10% of all intracerebral haemorrhages and leads to severe, long-lasting functional deficits. Currently, there is limited research on this stroke subtype, which may be due to the lack of a suitable composite neuroscoring system specific for cerebellar injury in rodents. The purpose of this study is to develop a comprehensive composite neuroscore test for cerebellar injury using a rat model of cerebellar haemorrhage. Sixty male Sprague-Dawley rats were subjected to either sham surgery or cerebellar haemorrhage. Twenty-four hours post-injury, neurological behaviour was evaluated using 17 cost-effective and easy-to-perform tests, and a composite neuroscore was developed. The composite neuroscore was then used to assess functional recovery over seven days after cerebellar haemorrhage. Differences in the composite neuroscore deficits for the mild and moderate cerebellar haemorrhage models were observed for up to five days post-ictus. Until now, a composite neuroscore for cerebellar injury was not available for rodent studies. Herein, using mild and moderate cerebellar haemorrhage rat models a composite neuroscore for cerebellar injury was developed and used to assess functional deficits after cerebellar haemorrhage. This composite neuroscore may also be useful for other cerebellar injury models.

  10. Haemostatic effect and tissue reactions of methods and agents used for haemorrhage control in apical surgery

    DEFF Research Database (Denmark)

    Jensen, Simon Storgaard; Yazdi, P M; Hjørting-Hansen, Erik

    2010-01-01

    To compare the haemostatic effect and tissue reactions of different agents and methods used for haemorrhage control in apical surgery.......To compare the haemostatic effect and tissue reactions of different agents and methods used for haemorrhage control in apical surgery....

  11. Trade practices are main factors involved in the transmission of viral haemorrhagic septicaemia

    DEFF Research Database (Denmark)

    Reichert, M.; Matras, M.; Skall, Helle Frank

    2013-01-01

    Viral haemorrhagic septicaemia (VHS), caused by the novirhabdovirus viral haemorrhagic septicaemia virus (VHSV), causes significant economic problems to European rainbow trout, Oncorhynchus mykiss (Walbaum), production. The virus isolates can be divided into four distinct genotypes with additiona...... cause of virus transmission appears to be movement of fish. At least in Polish circumstances trading practices appear to have significant impact on spreading of VHSV infection....

  12. An increase in rates of obstetric haemorrhage in a setting of high ...

    African Journals Online (AJOL)

    Cases of OH (including abruptio placentae, placenta praevia, unspecified antepartum haemorrhage (APH), and postpartum haemorrhage (PPH)) were identified from maternity delivery records, and the relevant data extracted. Results. We analysed the records of 448 women diagnosed with OH. Even though the incidence ...

  13. Transcortical sensory aphasia due to a left frontal subcortical haemorrhage.

    Science.gov (United States)

    Maeshima, S; Kuwata, T; Masuo, O; Yamaga, H; Okita, R; Ozaki, F; Moriwaki, H; Roger, P

    1999-11-01

    A case of transcortical sensory aphasia caused by a cerebral haemorrhage in the left frontal lobe is presented. A 72-year-old right-handed woman was admitted to the hospital, with a history of acute onset of speech disturbance and headache. On initial assessment, her spontaneous speech was fluent. She had no difficulty initiating speech, articulated normally, and did not exhibit logorrhea. Her ability to repeat phonemes and short sentences (5-6 words) was fully preserved, however she had severe difficulty with visual recognition of words, and with aural comprehension at the word level, although she was able to read words aloud. Computed tomography and magnetic resonance imaging showed cerebral haemorrhage in the left frontal lobe, involving the superior and middle frontal gyrus. Single photon emission CT revealed a wider area of low perfusion over the entire left frontal lobe, including the superior, middle and inferior frontal gyrus. The aphasia symptoms, mainly poor comprehension, disappeared quickly several weeks after the event. This may have been due to a reduction in the size of the haematoma and a resolution of the oedema around the haematoma. Clinically, the transcortical sensory aphasia in this case was indistinguishable from that caused by damage to the posterior language areas. Further case reports of transcortical sensory aphasia associated with frontal lobe lesions would help to confirm whether a relatively rapid recovery is characteristic in cases such as this.

  14. Role of canine circovirus in dogs with acute haemorrhagic diarrhoea.

    Science.gov (United States)

    Anderson, A; Hartmann, K; Leutenegger, C M; Proksch, A L; Mueller, R S; Unterer, S

    2017-06-03

    Canine circovirus (CanineCV) has been detected in some dogs with severe haemorrhagic diarrhoea, but its pathogenic role is unclear. This study evaluated a suspected association between the presence of CanineCV and acute haemorrhagic diarrhoea syndrome (AHDS) in dogs. The prevalence of CanineCV in dogs with AHDS was compared with that in healthy dogs and those infected with canine parvovirus (CPV). Additionally, time to recovery and mortality rate were compared between CanineCV-positive and CanineCV-negative dogs. Faecal samples of dogs with AHDS (n=55), healthy dogs (n=66) and dogs infected with CPV (n=54) were examined by two real-time TaqMan PCR assays targeting the replicase and capsid genes of CanineCV. CanineCV was detected in faecal samples of two dogs with AHDS, three healthy controls and seven dogs infected with CPV. Among the three groups, there was no significant difference in prevalence of CanineCV. CPV-infected animals that were coinfected with CanineCV had a significantly higher mortality rate compared with those negative for CanineCV. CanineCV does not appear to be the primary causative agent of AHDS in dogs, but might play a role as a negative co-factor in disease outcome in dogs with CPV infection. British Veterinary Association.

  15. IDENTIFICATION OF INCREASED BLUE LIGHT REFLECTIVITY IN MACULAR TELANGIECTASIA TYPE 2 USING SCANNING LASER OPHTHALMOSCOPY VERSUS RED-FREE FUNDUS PHOTOGRAPHY.

    Science.gov (United States)

    Soorma, Talha; Heeren, Tjebo; Florea, Daniela; Leung, Irene; Peto, Tunde

    2017-02-10

    To compare two modalities used for detection of the characteristic parafoveal hyperreflective area seen in macular telangiectasia Type 2. Scanning laser ophthalmoscope blue light reflectance was compared with red-free fundus photography imaging. Images were obtained as part of the international Natural History Study of Macular Telangiectasia (MacTel Study). The hyperreflective area can more frequently be seen with scanning laser ophthalmoscope blue light reflectance than with red-free imaging. Detection of the hyperreflective area might help to identify macular telangiectasia in earlier disease stages. Scanning laser ophthalmoscope blue light reflectance should be preferred as a diagnostic tool when the suspicion of macular telangiectasia arises. However, red-free imaging offers a viable option to scanning laser ophthalmoscope blue light reflectance when good quality is achieved.

  16. Global nursing in an Ebola viral haemorrhagic fever outbreak: before, during and after deployment

    Science.gov (United States)

    von Strauss, Eva; Paillard-Borg, Stéphanie; Holmgren, Jessica; Saaristo, Panu

    2017-01-01

    ABSTRACT Background: Nurses are on the forefront and play a key role in global disaster responses. Nevertheless, they are often not prepared for the challenges they are facing and research is scarce regarding the nursing skills required for first responders during a disaster situation. Objectives: To investigate how returnee nursing staff experienced deployment before, during and after having worked for the Red Cross at an Ebola Treatment Center in Kenema, West Africa, and to supply knowledge on how to better prepare and support staff for viral haemorrhagic fever outbreaks. Methods: A descriptive, cross-sectional approach. Questionnaires were administered to nurses having worked with patients suffering from Ebola in 2014 and 2015. Data collection covered aspects of pre-, during and post-deployment on clinical training, personal health, stress management, leadership styles, socio-cultural exposure and knowledge transfer, as well as attitudes from others. Data was analysed using both quantitative and qualitative methods. Results: Response-rate was 88%: forty-four nurses from 15 different countries outside West Africa answered the questionnaire. The respondents identified the following needs for improvement: increased mental health and psychosocial support and hands-on coping strategies with focus on pre- and post-deployment; more pre-deployment task-oriented clinical training; and workload reduction, as exhaustion is a risk for safety. Conclusions: This study supplies knowledge on how to better prepare health care staff for future viral haemorrhagic fever outbreaks and other disasters. Participants were satisfied with their pre-deployment physical health preparation, whereas they stressed the importance of mental health support combined with psychosocial support after deployment. Furthermore, additional pre-clinical training was requested. PMID:29017025

  17. Global nursing in an Ebola viral haemorrhagic fever outbreak: before, during and after deployment.

    Science.gov (United States)

    von Strauss, Eva; Paillard-Borg, Stéphanie; Holmgren, Jessica; Saaristo, Panu

    2017-01-01

    Nurses are on the forefront and play a key role in global disaster responses. Nevertheless, they are often not prepared for the challenges they are facing and research is scarce regarding the nursing skills required for first responders during a disaster situation. To investigate how returnee nursing staff experienced deployment before, during and after having worked for the Red Cross at an Ebola Treatment Center in Kenema, West Africa, and to supply knowledge on how to better prepare and support staff for viral haemorrhagic fever outbreaks. A descriptive, cross-sectional approach. Questionnaires were administered to nurses having worked with patients suffering from Ebola in 2014 and 2015. Data collection covered aspects of pre-, during and post-deployment on clinical training, personal health, stress management, leadership styles, socio-cultural exposure and knowledge transfer, as well as attitudes from others. Data was analysed using both quantitative and qualitative methods. Response-rate was 88%: forty-four nurses from 15 different countries outside West Africa answered the questionnaire. The respondents identified the following needs for improvement: increased mental health and psychosocial support and hands-on coping strategies with focus on pre- and post-deployment; more pre-deployment task-oriented clinical training; and workload reduction, as exhaustion is a risk for safety. This study supplies knowledge on how to better prepare health care staff for future viral haemorrhagic fever outbreaks and other disasters. Participants were satisfied with their pre-deployment physical health preparation, whereas they stressed the importance of mental health support combined with psychosocial support after deployment. Furthermore, additional pre-clinical training was requested.

  18. Caffeine Suppresses Apoptosis of Bladder Cancer RT4 Cells in Response to Ionizing Radiation by Inhibiting Ataxia Telangiectasia Mutated-Chk2-p53 Axis

    OpenAIRE

    Zhe-Wei Zhang; Jing Xiao; Wei Luo; Bo-Han Wang; Ji-Min Chen

    2015-01-01

    Background: Caffeine suppresses ataxia telangiectasia and Rad3 related and ataxia telangiectasia mutated (ATM) activities; ATM is the major kinase for DNA damage detection. This study aimed to investigate the effects of caffeine on DNA damage responses in cells from the bladder cancer cell line RT4 those were exposed to ionizing radiation (IR). Methods: Immunofluorescent staining was performed to investigate changes in the proteins involved in DNA damage responses with or without caffeine...

  19. Severe cerebral hypovolemia on perfusion CT and lower body weight are associated with parenchymal haemorrhage after thrombolysis

    Energy Technology Data Exchange (ETDEWEB)

    Tsetsou, S.; Eskandari, A.; Michel, P. [Centre Hospitalier Universitaire Vaudois and University of Lausanne CHUV, Department of Neurology, Lausanne (Switzerland); Amiguet, M. [Centre Hospitalier Universitaire Vaudois and University of Lausanne, Institute of Social and Preventive Medicine, Lausanne (Switzerland); Meuli, R.; Maeder, P. [Centre Hospitalier Universitaire Vaudois and University of Lausanne, Department of Radiology, Lausanne (Switzerland); Jiang, B.; Wintermark, M. [Stanford University and Medical Center, Department of Radiology, Neuroradiology Division, Stanford, CA (United States)

    2017-01-15

    Haemorrhagic transformation of acute ischemic stroke (AIS) and particularly parenchymal haemorrhage (PH) remains a feared complication of intravenous thrombolysis (IVT). We aimed to identify clinical and perfusion CT (PCT) variables which are independently associated with PHs. In this observational cohort study, based on the Acute Stroke Registry Analysis of Lausanne (ASTRAL) from 2003 to December 2013, we selected patients with AIS involving the middle cerebral artery (MCA) territory who were thrombolysed within 4.5 h of symptoms' onset and who had a good quality baseline PCT at the beginning of IVT. In addition to demographic, clinical, laboratory and non-contrast CT data, volumes of salvageable tissue and ischemic core on PCT, as well as absolute CBF and CBV values within the ischemic regions were compared in patients with and without PH in multivariate analysis. Of the 190 included patients, 24 (12.6%) presented a PH (11 had PH1 and 13 had PH2). In multivariate analysis of the clinical and radiological variables, the lowest CBV in the core and lower body weight was both significantly associated with PH (p = 0.009 and p = 0.024, respectively). In thrombolysed MCA strokes, maximal hypoperfusion severity depicted by lowest CBV values in the core region and lower body weight are independently correlated with PH. This information, if confirmed in other case series, may add to the stratification of revascularisation decisions in patients with a perceived high PH risk. (orig.)

  20. Hyperbaric oxygen as sole treatment for severe radiation - induced haemorrhagic cystitis

    Energy Technology Data Exchange (ETDEWEB)

    Dellis, Athanasios, E-mail: aedellis@gmail.com [Department of Surgery, National and Kapodistrian University of Athens, Aretaieion Academic Hospital, Athens (Greece); Papatsoris, Athanasios; Deliveliotis, Charalambos; Skolarikos, Andreas [Department of Urology, University of Athens, Sismanoglio General Hospital, Athens (Greece); Kalentzos, Vasileios [Department of Diving and Hyperbaric Oxygen, Naval and Veterans Hospital, Athens (Greece)

    2017-05-15

    Purpose: To examine the safety and efficacy of hyperbaric oxygen as the primary and sole treatment for severe radiation-induced haemorrhagic cystitis. Materials and methods: Hyperbaric oxygen was prospectively applied as primary treatment in 38 patients with severe radiation cystitis. Our primary endpoint was the incidence of complete and partial response to treatment, while the secondary endpoints included the duration of response, the correlation of treatment success-rate to the interval between the onset of haematuria and initiation of therapy, blood transfusion need and total radiation dose, the number of sessions to success, the avoidance of surgery and the overall survival. Results: All patients completed therapy without complications with a mean follow-up of 29.33 months. Median number of sessions needed was 33. Complete and partial response rate was 86.8% and 13.2%, respectively. All 33 patients with complete response received therapy within 6 months of the haematuria onset. One patient needed cystectomy, while 33 patients were alive at the end of follow-up. Conclusions: Our study suggests the early primary use of hyperbaric oxygen for radiation-induced severe cystitis as an effective and safe treatment option. (author)

  1. Lack of controlled studies investigating the risk of postpartum haemorrhage in cesarean delivery after prior use of oxytocin: a scoping review

    OpenAIRE

    Bischoff, Karin; Nothacker, Monika; Lehane, Cornelius; Lang, Britta; Meerpohl, Joerg; Schmucker, Christine

    2017-01-01

    Background Postpartum haemorrhage (PPH) is a major cause of maternal mortality and morbidity worldwide. Experimental and clinical studies indicate that prolonged oxytocin exposure in the first or second stage of labour may be associated with impaired uterine contractility and an increased risk of atonic PPH. Therefore, particularly labouring women requiring cesarean delivery constitute a subset of patients that may exhibit an unpredictable response to oxytocin. We mapped the evidence for comp...

  2. Genetic population structure of marine viral haemorrhagic septicaemia virus (VHSV)

    DEFF Research Database (Denmark)

    Snow, M.; Bain, N.; Black, J.

    2004-01-01

    The nucleotide sequences of a specific region of the nucleoprotein gene were compared in order to investigate the genetic population structure of marine viral haemorrhagic septicaemia virus (VHSV). Analysis of the sequence from 128 isolates of diverse geographic and host origin renders...... this the most comprehensive molecular epidemiological study of marine VHSV conducted to date. Phylogenetic analysis of nucleoprotein gene sequences confirmed the existence of the 4 major genotypes previously identified based on N- and subsequent G-gene based analyses. The range of Genotype I included subgroups...... of isolates associated with rainbow trout aquaculture (Genotype la) and those from the Baltic marine environment (Genotype Ib) to emphasise the relatively close genetic relationship between these isolates. The existence of an additional genotype circulating within the Baltic Sea (Genotype II) was also...

  3. A new uterine compression suture for postpartum haemorrhage with atony.

    Science.gov (United States)

    Zheng, J; Xiong, X; Ma, Q; Zhang, X; Li, M

    2011-02-01

    Postpartum haemorrhage (PPH) is a major cause of worldwide maternal mortality and is still associated with significant morbidity. After the B-Lynch suture was reported in 1997, several different uterine compression sutures were found to be successful in controlling PPH. In this paper, we describe another simple variation of the uterine compression suture technique, which was performed without an incision in the uterine wall, without entering the uterine cavity and without suturing the anterior and posterior walls of the uterus together, so minimising the trauma to the uterus. This new uterine compression suture is an effective and safe surgical treatment for PPH caused by atony. It has the potential to apply to intractable PPH after vaginal delivery.

  4. Haemorrhagic fever with renal syndrome in Montenegro, 2004-14.

    Science.gov (United States)

    Vratnica, Zoran; Busani, Luca; Zekovic, Željka; Rakocevic, Božidarka; Medenica, Sanja; Urciuoli, Roberta; Rezza, Giovanni; Mugoša, Boban

    2017-12-01

    From 2004 to 2014, 106 cases of Human haemorrhagic fever with renal syndrome were notified in Montenegro, with a peak in 2014. Most of the cases occurred in summer, in the North-east and Central Montenegro, a hilly/mountainous area, that provides suitable habitats for the main rodent carriers. Cases were mainly males (71) and exposures were often working outdoor or spending time visiting mountains and lakes. Incidence correlated with average annual temperature increase and average annual rainfalls decrease, but not with land cover. Environment and climate effects on HFRS in Montenegro need further investigation to get insight into future trends. © The Author 2017. Published by Oxford University Press on behalf of the European Public Health Association. All rights reserved.

  5. Effect of hypnosis on induction of local anaesthesia, pain perception, control of haemorrhage and anxiety during extraction of third molars: a case-control study.

    Science.gov (United States)

    Abdeshahi, Seyyed Kazem; Hashemipour, Maryam Alsadat; Mesgarzadeh, Vahid; Shahidi Payam, Akbar; Halaj Monfared, Alireza

    2013-06-01

    Systemic conditions are considered limiting factors for surgical procedures under local anaesthesia in the oral cavity. All the pharmacological methods to control pain in patients have some disadvantages, such as side effects and extra costs for rehabilitation. Therefore, in such cases alternative treatment modalities are considered, such as hypnosis in dentistry. The aim of the present study was to evaluate the effect of hypnosis on haemorrhage, pain and anxiety during the extraction of third molars. In this case-control study, 24 female and male volunteers were included. The subjects had been referred to the Department of Oral and Maxillofacial Surgery, Kerman University of Medical Sciences, for extraction of third molars. Demographic data for all the subjects were recorded. Patients with chronic medical conditions were excluded. The patients were used as their own controls, with the third molars on one side being removed under hypnosis and on the opposite side under local anaesthetic. Hypnosis was induced by one of the two methods, either fixing the gaze on one point or Chiasson's technique; both these methods are appropriate for patients in the dental chair. The Spielberger State-Trait Anxiety Inventory was used to determine patient anxiety levels before hypnosis and anaesthesia. Pain was scored using VAS (visual analogue scale). After surgery the patient was asked to bite on a sterile gauze pad over the surgical site for 30 min when haemorrhage from the area was evaluated. If there was no haemorrhage the patient was discharged. If haemorrhage persisted, the gauze pad was left in place for another 30 min and the area was re-evaluated. Any active oozing from the area after 30 min was considered haemorrhage. Haemorrhage, anxiety and pain were compared between the two groups. Data was analyzed using the t-test, McNemar's test and Wilcoxon's signed rank test using SPSS 18 statistical software. Twenty-four patients were evaluated; there were 14 males (58.3%) and 10

  6. Tranexamic acid for treatment of women with post-partum haemorrhage in Nigeria and Pakistan: a cost-effectiveness analysis of data from the WOMAN trial.

    Science.gov (United States)

    Li, Bernadette; Miners, Alec; Shakur, Haleema; Roberts, Ian

    2018-02-01

    Sub-Saharan Africa and southern Asia account for almost 85% of global maternal deaths from post-partum haemorrhage. Early administration of tranexamic acid, within 3 h of giving birth, was shown to reduce the risk of death due to bleeding in women with post-partum haemorrhage in the World Maternal Antifibrinolytic (WOMAN) trial. We aimed to assess the cost-effectiveness of early administration of tranexamic acid for treatment of post-partum haemorrhage. For this economic evaluation we developed a decision model to assess the cost-effectiveness of the addition of tranexamic acid to usual care for treatment of women with post-partum haemorrhage in Nigeria and Pakistan. We used data from the WOMAN trial to inform model parameters, supplemented by estimates from the literature. We estimated costs (calculated in 2016 US$), life-years, and quality-adjusted life-years (QALYs) with and without tranexamic acid, calculated incremental cost-effectiveness ratios (ICERs), and compared these to threshold values in each country. Costs were assessed from the health-care provider perspective and discounted at 3% per year in the base case analysis. We did a series of one-way sensitivity analyses and probabilistic sensitivity analysis to assess the robustness of the results to parameter uncertainty. Early treatment of post-partum haemorrhage with tranexamic acid generated an average gain of 0·18 QALYs at an additional cost of $37·12 per patient in Nigeria and an average gain of 0·08 QALYs at an additional cost of $6·55 per patient in Pakistan. The base case ICER results were $208 per QALY in Nigeria and $83 per QALY in Pakistan. These ICERs were below the lower bound of the cost-effectiveness threshold range in both countries. The ICERs were most sensitive to uncertainty in parameter inputs for the relative risk of death due to bleeding with tranexamic acid, the discount rate, the cost of the drug, and the baseline probability of death due to bleeding. Early treatment of post

  7. Use of local pro-coagulant haemostatic agents for intra-cavity control of haemorrhage after trauma.

    Science.gov (United States)

    Navarro, A; Brooks, A

    2015-10-01

    Uncontrolled haemorrhage as a result of trauma remains a significant surgical challenge, accounting for approximately 25-40% of trauma-related mortality. A wide range of local internal haemostatic agents have been developed to help achieve intra-cavity control of bleeding, with choice of agent influenced by the circumstances and nature of the haemorrhage. Trauma patients are frequently coagulopathic, so products that incorporate pro-coagulant technology and thereby act independently of the clotting cascade may be more effective in these settings. A range of products that utilise thrombin and fibrinogen to promote local haemostasis at intra-cavity bleeding points are available or in development, including fibrin glues (e.g. Tisseel®/Tissucol® and Evicel®/Crosseal®/Quixil®), fibrin sealant patches (e.g. TachoSil®) and products based on a gelatin-thrombin haemostatic matrix (e.g. FloSeal®). This systematic review was performed to assess all peer-reviewed evidence of product efficacy. Fibrin sealant patches have shown haemostatic efficacy in a variety of surgical procedures and appear to offer practical advantages over liquid fibrin glues. Existing evidence suggests that patch products enable delivery of pro-coagulants to defined areas with less chance of dilution and/or displacement by blood flow, but they require a pressure buttress for a suitable amount of time to achieve good results after trauma. Our experience, supported by other reports in the literature, suggests the use of such fibrin patches may provide an effective option in helping to control haemorrhage after trauma. However, there is a general paucity of clinical data for intra-cavity haemostatic agent use, with the majority of data being based on animal models and case reports. Further clinical evidence, ideally including comparative studies between different agents, would be beneficial in helping guide surgeon choice to the most appropriate products to use in trauma settings.

  8. An atypical case of dengue haemorrhagic fever presenting as quadriparesis due to compressive myelopathy.

    Science.gov (United States)

    Verma, S P; Himanshu, D; Tripathi, A K; Vaish, A K; Jain, Nirdesh

    2011-03-25

    Dengue haemorrhagic fever is a serious presentation of dengue viral infection. Case reports of cerebral haemorrhage due to dengue are rare. The authors report a rare case of dengue haemorrhagic fever presenting with fever and acute onset progressive quadriparesis of the upper motor neuron type. Rare cases of quadriparesis in dengue fever have been reported in the literature due to myositis, Guillain-Barre syndrome, myelitis and hypokalaemia. This case on investigations was found to have extramedullary compression due to haematoma in the cervical region as the cause of quadriparesis.

  9. [Subhyaloid macular haemorrhage in Terson syndrome, treated by rupture of the posterior hyaloid using YAG laser].

    Science.gov (United States)

    Sánchez Ferreiro, A V; Muñoz Bellido, L

    2014-02-01

    We present the case of a 48 year-old man who had a sudden onset of vomiting, headache and loss of consciousness. The visual acuity was severely reduced in the left eye, with a large subhyaloid haemorrhage being observed in the fundus. The combination of subarachnoid haemorrhage and a vitreous haemorrhage is called Terson syndrome. The details of the treatment of this case with YAG laser are also discussed. Copyright © 2011 Sociedad Española de Oftalmología. Published by Elsevier Espana. All rights reserved.

  10. Subcortical Hypoperfusion following Surgery For Aneurysmal Subarachnoid Haemorrhage: Implications For Cognitive Performance?

    Directory of Open Access Journals (Sweden)

    C. L. Tooth

    2000-01-01

    Full Text Available The incidence and severity of cognitive deficits after surgery for aneurysmal subarachnoid haemorrhage and their relationship to aneurysm site remains controversial. The aim of this study was to investigate the pattern of regional cerebral blood flow which exists in patients one year post-surgery and to identify whether different patterns exist which may be related to the type of cognitive deficit or the location of the aneurysm. 62 patients underwent cognitive assessment and HMPAO SPECT imaging at a mean time of 12 months following surgery. Results were compared to those from healthy control subjects (n = 55 for neuropsychological testing; n = 14 for SPECT imaging. In the patient group, significant stable cognitive deficits occurred in all cognitive domains but no cognitive measure differentiated aneurysm site. On SPECT images, statistical parametric mapping identified a large common area of subcortical hypoperfusion in the patient group as a whole. The findings of this study suggest a possible link between reduced subcortical function and the extent and severity of cognitive deficits.

  11. Approach to cases with postpartum haemorrhage: Retrospective analysis of 41 cases

    Directory of Open Access Journals (Sweden)

    Adnan İncebıyık

    2014-03-01

    Full Text Available Objective: To assess treatment approaches and outcomes in 41 cases with postpartum haemorrhage (PPH. Methods: Screening the electronic database of the hospital identified 41 cases admitted to the obstetrics clinic with a diagnosis of PPH (ICD codes: O72, O72, O72.2 between January 1, 2010, and June 30, 2013. The clinical findings and the results of the surgical and medical treatments used were noted in all the patients. Results: Forty-one cases with PPH were detected who had been managed at the clinic during a 3-year period. Normal spontaneous vaginal delivery (26 patients; 63.4% was the most common type of delivery. Uterine atony was the most common cause of PPH in 30 patients (73.2%. Medical therapy was the most common therapeutic approach in PPH caused by uterine atony (16 patients; 53.3%, followed by total abdominal hysterectomy (TAH plus bilateral hypogastric artery ligation (9 patients; 30.0%, uterine packing sutures plus bilateral hypogastric artery ligation (BHAL (4 patients; 13.3% and intrauterine balloon tamponade (IUBT (one patient; 2.4%. Only one of 3 patients with uterine rupture underwent a hysterectomy. Three patients in whom placental adhesion anomalies were detected were treated by a combination of manual removal of the placenta, uterine curettage and IUBT. Conclusion: The results suggest that care should be taken regarding PPH in pregnant women, even in those without any risk factors. In particular, the third phase of labour should be carefully monitored. Medical treatment and organ-sparing surgery are generally associated with positive outcomes in patients with stable haemodynamic status. J Clin Exp Invest 2014; 5 (1: 18-23

  12. Fibrinogen concentrate as a treatment for postpartum haemorrhage-induced coagulopathy: A study protocol for a randomised multicentre controlled trial. The fibrinogen in haemorrhage of DELivery (FIDEL) trial.

    Science.gov (United States)

    Ducloy-Bouthors, Anne-Sophie; Mignon, Alexandre; Huissoud, Cyril; Grouin, Jean-Marie; Mercier, Frédéric J

    2016-08-01

    Postpartum haemorrhage (PPH) remains the leading cause for maternal mortality worldwide. Hypofibrinogenaemia has been identified as a major risk factor for progress towards severe PPH. The efficacy of fibrinogen concentrate supplementation in PPH has been shown in various clinical settings but the level of evidence is not sufficient to prove the benefit, evaluate the risks, and determine the value, timing and dose of fibrinogen supplementation in PPH. The FIDEL trial objective is to evaluate the impact of a therapeutic strategy based on the early administration of human fibrinogen concentrate compared to the current practice based on late administration in severe PPH patients requiring second line uterotonics. This is a prospective multicentre, randomised, double-blind, placebo-controlled trial. A total of 412 patients will be randomised if they meet the following criteria: female patients≥18 years old, vaginal delivery, PPH requiring IV administration of prostaglandins (sulprostone) after 20 to 30minutes of oxytocin failure. The participants are assigned to receive either fibrinogen 3g or placebo infusions. The primary endpoint is a composite endpoint defined as the percentage of patients losing at least 4g/dL of Hb, and/or requiring a transfusion of at least 2 units of packed red blood cells, within the 48hours following fibrinogen administration. The purpose of this study is to demonstrate the efficacy and safety of an early fibrinogen concentrate infusion in uncontrolled active PPH. Copyright © 2016 Société française d'anesthésie et de réanimation (Sfar). Published by Elsevier Masson SAS. All rights reserved.

  13. Antioxidant vitamins intake, ataxia telangiectasia mutated (ATM) genetic polymorphisms, and breast cancer risk.

    Science.gov (United States)

    Lee, Sang-Ah; Lee, Kyoung-Mu; Lee, Seung-Joon; Yoo, Keun-Young; Park, Sue Kyung; Noh, Dong-Young; Ahn, Sei-Hyun; Kang, Daehee

    2010-01-01

    Ataxia telangiectasia mutated (ATM) cells exist under a constant state of oxidative stress with high levels of reactive oxygen species, which are removed by cellular antioxidant vitamins. We investigated the independent and combined effect of antioxidant vitamins intake and the ATM genotype or diplotype on the breast cancer risk. Analyses included 323 cases and age-matched controls who participated in the Korean Breast Cancer Study during 2001-2003 with complete dietary information. The vitamin A (P vitamins including vitamin B(2) (P = 0.01), vitamin C (P intake. No five single nucleotide polymorphisms (ATM-5144A > T (rs228589), IVS21 + 1049T > C (rs664677), IVS33-55T > C (rs664982), IVS34+60G > A (rs664143), and 3393T > G (rs4585)) studied showed significant differences in their allele frequencies between the cases and controls. On the other hand, compared with the diploid of ATTGT/ATTGT, as the number of ATTGT haplotype decreased, the risk of breast cancer increased (P = 0.04). The association between ATM diplotype and the breast cancer risk was predominantly among women with low intake of antioxidant vitamins including vitamin A, vitamin C, and folic acid. This study suggested that some antioxidant vitamins intake may modify the effect of ATM diplotype on the breast cancer risk among Korean women.

  14. Breast cancer risk in ataxia telangiectasia (AT) heterozygotes: haplotype study in French AT families

    Science.gov (United States)

    Janin, N; Andrieu, N; Ossian, K; Laugé, A; Croquette, M-F; Griscelli, C; Debré, M; Bressac-de-Paillerets, B; Aurias, A; Stoppa-Lyonnet, D

    1999-01-01

    Epidemiological studies in ataxia telangiectasia (AT) families have suggested that AT heterozygotes could have an increased cancer risk, especially breast cancer (BC) in women. It has also been suggested that an increased sensibility of AT heterozygotes to the effect of ionizing radiation could be responsible for the increased BC risk. BC relative risk (RR) estimation in AT heterozygotes within families ascertained through AT children is presented here. Family data collected included demographic characteristics, occurrence of cancers, past radiation exposures and blood samples. DNA samples were studied using seven ATM linked microsatellites markers allowing AT haplotypes reconstitution. The relative risk of BC was assessed using French estimated incidence rates. A significant increase risk of BC is found among obligate ATM heterozygotes with a point estimate of 3.32 (P = 0.002). BC relative risk calculated according to age is significantly increased among the obligate ATM heterozygotes female relatives with an age ≤ 44 years (RR = 4.55, P = 0.005). The BC relative risk is statistically borderline among the obligate ATM heterozygote female relatives with an age ≥ 45 years (RR = 2.48, P = 0.08). The estimated BC relative risk among ATM heterozygotes is consistent with previously published data. However, the increased risk is only a little higher than classical reproductive risk factors and similar to the risk associated with a first-degree relative affected by BC. © 1999 Cancer Research Campaign PMID:10362113

  15. Identification of 4 ataxia telangiectasia cell lines hypersensitive to. gamma. -irradiation but not to hydrogen peroxide

    Energy Technology Data Exchange (ETDEWEB)

    Cantoni, O.; Sestili, P.; Santoro, M.P.; Tannoia, M.C.; Cattabeni, F. (Universita degli Studi di Urbino (Italy). Istituto di Farmacologia e Farmacognosia and Centro di Farmacologia Oncologia Sperimentale); Novelli, G.; Dallapiccola, B. (Universit degli Studi di Urbino (Italy). Cattedra di Genetica); Fiorilli, M. (Universita di Roma ' La Sapienze' (Italy). Cattedra di Allergologia e Immunologia Clinica)

    1989-09-01

    The effct of hydrogen peroxide on the rate of semi-conservative DNA synthesis in ataxia telangiectasia (AT) and normal human lymphoblastoid cells was investigated. The rate of DNA synthesis in AT cells was not depressed to a lesser extent than in normal cells, as might have been expected since H{sub 2O2} is a radiomimetic agent. On the contrary, 4 AT cell lines displayed a higher sensitivity to the inhibitory effect of H{sub 2O2} on DNA synthesis than 2 normal cell lines. Comparable levels of cytotoxicity were detected in cell vaibility studies. Furthermore, neither the level of DNA breakage produced by H{sub 2O2}, nor the rate of repair of these lesions was signigicantly different in normal and AT cells. Together, these results indicate that the AT cell lines utilized in this study are not hypersensitive to the oxidant. It is suggested that H-2-O-2 may not induce lethality via the direct ation of the hydroxyl radical (OH). (Author). 20 refs.; 3 figs.; 1 tab.

  16. The role of the neuro-astro-vascular unit in the etiology of ataxia telangiectasia.

    Science.gov (United States)

    Meshulam, Leenoy; Galron, Ronit; Kanner, Sivan; De Pittà, Maurizio; Bonifazi, Paolo; Goldin, Miri; Frenkel, Dan; Ben-Jacob, Eshel; Barzilai, Ari

    2012-01-01

    The growing recognition that brain pathologies do not affect neurons only but rather are, to a large extent, pathologies of glial cells as well as of the vasculature opens to new perspectives in our understanding of genetic disorders of the CNS. To validate the role of the neuron-glial-vascular unit in the etiology of genome instability disorders, we report about cell death and morphological aspects of neuroglia networks and the associated vasculature in a mouse model of Ataxia Telangiectasia (A-T), a human genetic disorder that induces severe motor impairment. We found that A-T-mutated protein deficiency was consistent with aberrant astrocytic morphology and alterations of the vasculature, often accompanied by reactive gliosis. Interestingly similar findings could also be reported in the case of other genetic disorders. These observations bolster the notion that astrocyte-specific pathologies, hampered vascularization and astrocyte-endothelium interactions in the CNS could play a crucial role in the etiology of genome instability brain disorders and could underlie neurodegeneration.

  17. The role of the neuro-astro-vascular unit in the etiology of Ataxia Telangiectasia

    Directory of Open Access Journals (Sweden)

    Leenoy eMeshulam

    2012-09-01

    Full Text Available The growing recognition that brain pathologies do not affect neurons only but rather are, to a large extent, pathologies of glial cells as well as of the vasculature opens to new perspectives in our understanding of genetic disorders of the CNS. To validate the role of the neuron-glial-vascular unit in the etiology of genome instability disorders, we report about cell death and morphological aspects of neuro-glia networks and the associated vasculature in a mouse model of Ataxia Telangiectasia (A-T, a human genetic disorder that induces severe motor impairment. We found that AT-mutated protein deficiency was consistent with aberrant astrocytic morphology and alterations of the vasculature, often accompanied by reactive gliosis. Interestingly similar findings could also be reported in the case of other genetic disorders. These observations bolster the notion that astrocyte-specific pathologies, hampered vascularization and astrocyte-endothelium interactions in the CNS could play a crucial role in the etiology of genome instability brain disorders and could underlie neurodegeneration.

  18. Role of ataxia-telangiectasia mutated (ATM) in porcine oocyte in vitro maturation.

    Science.gov (United States)

    Lin, Zi-Li; Kim, Nam-Hyung

    2015-06-01

    Ataxia-telangiectasia mutated (ATM) is critical for the DNA damage response, cell cycle checkpoints, and apoptosis. Significant effort has focused on elucidating the relationship between ATM and other nuclear signal transducers; however, little is known about the connection between ATM and oocyte meiotic maturation. We investigated the function of ATM in porcine oocytes. ATM was expressed at all stages of oocyte maturation and localized predominantly in the nucleus. Furthermore, the ATM-specific inhibitor KU-55933 blocked porcine oocyte maturation, reducing the percentages of oocytes that underwent germinal vesicle breakdown (GVBD) and first polar body extrusion. KU-55933 also decreased the expression of DNA damage-related genes (breast cancer 1, budding uninhibited by benzimidazoles 1, and P53) and reduced the mRNA and protein levels of AKT and other cell cycle-regulated genes that are predominantly expressed during G2/M phase, including bone morphogenetic protein 15, growth differentiation factor 9, cell division cycle protein 2, cyclinB1, and AKT. KU-55933 treatment decreased the developmental potential of blastocysts following parthenogenetic activation and increased the level of apoptosis. Together, these data suggested that ATM influenced the meiotic and cytoplasmic maturation of porcine oocytes, potentially by decreasing their sensitivity to DNA strand breaks, stimulating the AKT pathway, and/or altering the expression of other maternal genes. © 2015 International Federation for Cell Biology.

  19. Current management of intracerebral haemorrhage in China: a national, multi-centre, hospital register study

    Directory of Open Access Journals (Sweden)

    Heeley Emma L

    2011-01-01

    Full Text Available Abstract Background We aimed to examine current practice of the management and secondary prevention of intracerebral haemorrhage (ICH in China where the disease is more common than in Western populations. Methods Data on baseline characteristics, management in-hospital and post-stroke, and outcome of ICH patients are from the ChinaQUEST (QUality Evaluation of Stroke Care and Treatment study, a multi-centre, prospective, 62 hospital registry in China during 2006-07. Results Nearly all ICH patients (n = 1572 received an intravenous haemodiluting agent such as mannitol (96% or a neuroprotectant (72%, and there was high use of intravenous traditional Chinese medicine (TCM (42%. Neurosurgery was undertaken in 137 (9% patients; being overweight, having a low Glasgow Coma Scale (GCS score on admission, and Total Anterior Circulation Syndrome (TACS clinical pattern on admission, were the only baseline factors associated with this intervention in multivariate analyses. Neurosurgery was associated with nearly three times higher risk of death/disability at 3 months post-stroke (odd ratio [OR] 2.60, p Conclusions The management of ICH in China is characterised by high rates of use of intravenous haemodiluting agents, neuroprotectants, and TCM, and of antihypertensives for secondary prevention. The controversial efficacy of these therapies, coupled with the current lack of treatments of proven benefit, is a call for action for more outcomes based research in ICH.

  20. Blood, sweat and tears: androgenic-anabolic steroid misuse and recurrent primary post-tonsillectomy haemorrhage

    National Research Council Canada - National Science Library

    Fox, Richard; Varadharajan, Kiran; Patel, Bhavesh; Beegun, Issa

    2014-01-01

    .... Thorough coagulation screen was normal. Recurrent primary haemorrhage occurred 3 h post-operatively requiring immediate surgical intervention, removal of the inferior poles, precautionary throat packs, intubation and observation...