25 research outputs found

    Mewt

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    Ġabra ta’ poeżiji u proża li tinkludi: Waħx il-baqar ta’ Peter A. Caruana – Żewġ ilħna ta’ Pawlu Aquilina – Il-bidla... ta’ Karmenu Mallia – Ġirja... ta’ C. Cassar – Fis-sikta ta’ Wied Magħlaq ta’ Anton Agius – Xewqat ta’ hena ta’ Rużar Briffa – Il-mewt ta’ Ġużè Chetcuti.peer-reviewe

    Lil Dun Karm

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    Ġabra ta’ poeżiji u proża li tinkludi: Qalb ta’ Peter A. Caruana – Ċetta l-internazzjonal ta’ Wallace Ph. Gulia – Tfal Maltin ta’ C. Cassar – Meta ntefa d-dawl ta’ Joe Mejlak – Lil tfajjel jibki ta’ V. Barbara – Għanja lil San Pawl il-Baħar ta’ P. F. Sammut – L-imqass ta’ G. Z. A. – Epigrammi ta’ P. P. Saydon – Iż-żewġ arloġġi ta’ Ġ. Cardona – Li kieku... ta’ Joseph C. Sciberras – Il-Milied it-tajjeb! ta’ Ġ. Borg Pantalleresco – Raħal twelidi ta’ M. Agius – Kannizzati... ta’ Pawlu Aquilina – Quddiem id-dar fejn twieled Dun Karm ta’ Ġużè Cardona – Lil Dun Karm ta’ Pawlu Mifsud.peer-reviewe

    Roti jduru

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    Ġabra ta’ poeżiji u proża li tinkludi: Kwartini ta’ C. Cassar – Dak li ħalla l-ħares ta’ Pawlu Cachia – Epigrammi ta’ Peter A. Caruana – Lill-Madonna tal-arju ta’ Mario Agius – Il-fatati li ħatfu lil Ġomu “Xewka” ta’ Ġużè Dimech Debono – Bla mħabba ta’ Ġorġ Borg – Il-bieb ta’ l-infern ta’ P. Jos. Cremona – Roti jduru ta’ C. Cassar.peer-reviewe

    Disa’ sinfonija ta’ Beethoven

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    Ġabra ta’ poeżiji u proża li tinkludi: It-trabokk ta’ W. Borg – Il-merħla tal-bnedmin ta’ Pawlu Aquilina – Versi ta’ Marċell Mizzi – Fuq ix-xmara Mersey, Manchester ta’ Wallace Ph. Gulia – Ħolma ta’ Peter A. Caruana – “Ma jiġix iżjed” ta’ A. Tabone – Id-dinja u l-bniedem ta’ Ġużè Chetcuti – Il-ġlied tal-ħbieb ta’ Marċell Mizzi – Lil ibni Danjel ta’ Manwel Cassar – Li kieku!!! ta’ C. Cassar – Id-disa’ sinfonija ta’ Beethoven ta’ Karmenu Mallia.peer-reviewe

    Hawn jien, Ä esĂą...

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    Ġabra ta’ poeżiji u proża li tinkludi: Biex nagħarfu ngħixu ta’ G. Z. A. – Il-qalb ta’ John Sciberras – L-istedina ta’ Vic. Apap – Lill-bniedem ta’ Joseph C. Sciberras – Il-hena ta’ tfuliti ta’ George Stevens – L-ewwel ta’ Mejju ta’ Karmenu Ellul Galea – Epigrammi ta’ Pawlu Cachia – Ġibtlek bukkett ġilju ta’ Ġużè Galea – De profundis ta’ A. Agius Muscat – Did-dwejra bħal ħajja ta’ Ġużè Cardona – Ma’ dik li ġejja mill-bogħod ta’ Joe Mejlak – Hawn jien, Ġesù... ta’ Bro. Henry.peer-reviewe

    Phäochromozytom und Phäochromozytom-assozierte Syndrome

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    Lil ħija Edward

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    Ġabra ta’ poeżiji u proża li tinkludi: Żahar l-imrar ta’ Pawlu Aquilina – Il-ħmar ta’ Poldu ta’ N. N. – Aħjar hekk inkella agħar ta’ Ġużè Galea – Ġesù ħaddiem ta’ A. Tabone – Passiflora ta’ Charles Coleiro – Minn Betlehem għall-kalvarju ta’ A. Cremona – Għana ta’ C. Cassar – Taqlib ta’ Oliver Friggieri – Il-warda tal-Mulej ta’ Ġużè Cardona – Lil ħija Edward ta’ Albert M. Cassola.peer-reviewe

    Distinct clinical features of paraganglioma syndromes associated with SDHB and SDHD gene mutations

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    CONTEXT: Germline mutations of the genes encoding succinate dehydrogenase subunits B (SDHB) and D (SDHD) predispose to paraganglioma syndromes type 4 (PGL-4) and type 1 (PGL-1), respectively. In both syndromes, pheochromocytomas as well as head and neck paragangliomas occur; however, details for individual risks and other clinical characteristics are unknown. OBJECTIVE: To determine the differences in clinical features in carriers of SDHB mutations and SDHD mutations. DESIGN, SETTING, AND PATIENTS: Population-based genetic screening for SDHB and SDHD germline mutations in 417 unrelated patients with adrenal or extra-adrenal abdominal or thoracic pheochromocytomas (n = 334) or head and neck paragangliomas (n = 83), but without syndromic features, from 2 registries based in Germany and central Poland, conducted from April 1, 2000, until May 15, 2004. MAIN OUTCOME MEASURES: Demographic and clinical findings with respect to gene mutation in SDHB vs SDHD compared with nonmutation carriers. RESULTS: A total of 49 (12%) of 417 registrants carried SDHB or SDHD mutations. In addition, 28 SDHB and 23 SDHD mutation carriers were newly detected among relatives of these carriers. Comparison of 53 SDHB and 47 SDHD total mutation carriers showed similar ages at diagnosis but differences in penetrance and of tumor manifestations. Head and neck paragangliomas (10/32 vs 27/34, respectively, P<.001) and multifocal (9/32 vs 25/34, respectively, P<.001) tumors were more frequent in carriers of SDHD mutations. In contrast, SDHB mutation carriers have an increased frequency of malignant disease (11/32 vs 0/34, P<.001). Renal cell cancer was observed in 2 SDHB mutation carriers and papillary thyroid cancer in 1 SDHB mutation carrier and 1 SDHD mutation carrier. CONCLUSIONS: In contrast with SDHD mutation carriers (PGL-1) who have more frequent multifocal paragangliomas, SDHB mutation carriers (PGL-4) are more likely to develop malignant disease and possibly extraparaganglial neoplasias, including renal cell and thyroid carcinomas. Appropriate and timely clinical screening is recommended in all patients with PGL-1 and PGL-4

    Predictors and prevalence of paraganglioma syndrome associated with mutations of the SDHC gene

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    CONTEXT: Paraganglioma syndrome includes inherited head and neck paragangliomas (HNPs) and adrenal or extra-adrenal pheochromocytomas and are classified according to the susceptibility genes SDHB, SDHC, and SDHD. In contrast with those with germline mutations of the SDHB and SDHD genes, clinical and genetic data on patients with mutations of SDHC are scarce. OBJECTIVE: To determine the prevalence and clinical characteristics of SDHC mutation carriers compared with patients with SDHB and SDHD mutations and with sporadic cases. DESIGN, SETTING, AND PATIENTS: Genetic screening for SDHC mutations in an international HNP registry of 121 unrelated index cases and in 371 sporadic cases from a pheochromocytoma registry, conducted January 1, 2001, until December 31, 2004. Identified index cases and affected relatives were clinically evaluated. MAIN OUTCOME MEASURES: Prevalence of and clinical findings for SDHC mutation-associated HNPs vs those with SDHB and SDHD mutations. RESULTS: The prevalence of SDHC carriers was 4% in HNP but 0% in pheochromocytoma index cases. None of the SDHC mutation carriers had signs of pheochromocytoma. We compared HNPs in 22 SDHC mutation carriers with the HNPs of SDHB (n = 15) and SDHD (n = 42) mutation carriers and with 90 patients with sporadic HNPs. Location, number of tumors, malignancy, and age were different: more carotid body tumors were found in SDHC (13/22 [59%]) than in sporadic HNPs (29/90 [32%], P = .03), as well as fewer instances of multiple tumors in SDHC (2/22) than in SDHD (24/42; P<.001), 0 malignant tumors in SDHC vs 6/15 in SDHB (P = .002), and younger age at diagnosis in SDHC than in sporadic HNPs (45 vs 52 years; P = .03). CONCLUSIONS: Patients with HNP, but not those with pheochromocytoma, harbor SDHC mutations in addition to those in SDHB and SDHD. In total, more than one quarter of HNP patients carry a mutation in 1 of these 3 genes. Head and neck paragangliomas associated with SDHC mutations are virtually exclusively benign and seldom multifocal. Analysis for germline mutations of SDHC is recommended in apparently sporadic HNP to identify risk of inheritance
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