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Bannayan-Riley-Ruvalcaba Syndrome (BRRS): An Uncommon Case of Haematochezia in a 3-year-old-boy.
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A malnourished child with metastatic tuberculous abscesses
No full textGummatous tuberculosis, also known as metastatic tuberculous abscesses, represents an uncommon manifestation of cutaneous tuberculosis, marked by the presence of persistent subcutaneous abscesses. We report the case of a malnourished Malagasy child with no family history of tuberculosis, presenting with chronic skin lesions lasting about a year, alongside systemic symptoms such as low-grade fevers, night sweats and weight loss. Despite initial negative microscopy for Koch's bacilli, the diagnosis was confirmed by GeneXpert PCR analysis. This case highlights the diagnostic difficulties associated with tuberculosis in high-burden countries. The chronicity of the skin lesions, the endemicity of tuberculosis, the child's immunosuppression from malnutrition and systemic symptoms raised clinical suspicion. Chronic abscesses with unusual presentations should prompt consideration of gummatous tuberculosis, particularly in endemic areas, where diverse and prolonged cutaneous manifestations warrant thorough evaluation
Trapianto di polmone in fibrosi cistica: L'esperienza del Centro regionale del Friuli Venezia Giulia
No full textPREMESSA: La fibrosi cistica è una rara malattia genetica che interessa progressivamente le funzioni pancreatiche e respiratorie: quando il problema respiratorio s’intensifica, a tutt’oggi l’unica soluzione terapeutica valida è il trapianto di polmone. OBIETTIVO: lo scopo dell’articolo è descrivere l’efficacia e la sicurezza del trapianto di polmone bilaterale in pazienti affetti da fibrosi cistica. METODI E MATERIALI: sono state prese in esame le cartelle cliniche dei pazienti seguiti da Centro Regionale di diagnosi e cura della Fibrosi Cistica di Trieste che hanno subito trapianti di polmone tra il 1970 e giugno 2015. Sono stati analizzati la sopravvivenza, i parametri metabolici e respiratori, la qualità della vita e le complicazioni post-trapianto. RISULTATI: 10 degli 83 pazienti (12%) hanno subito un trapianto di polmone bilaterale (età media 28,3 ± 9,5 anni, M:F=5:5) %); 2 di questi erano in età pediatrica (11 e 18 anni). La sopravvivenza di 5 anni riguardava l’80% di loro: un paziente (10%) è morto a causa di una Primary Graft Dysfunction (PGD) cinque giorni dopo l’intervento, l’altro (10%) a seguito di una sepsi da Burkholderia cepacia. La causa di trapianto di polmone è l’insufficienza respiratoria cronica nell’80% dei pazienti e l’insufficienza acuta nel 20%. Il tempo medio di attesa in lista trapianto è risultato pari a 18,8 ± 13,2 mesi e la sopravvivenza media post-trapianto di 4.5 ± 4 anni. Dopo il trapianto il FEV1% , la FVC% ed il FEF25-75% nonché la saturazione di ossigeno sono aumentati in modo significativo e nessun paziente ha avuto bisogno di NIV o di ossigeno supplementare. La saturazione di ossigeno media è aumentata da 91% ± 3 nell’anno del trapianto a 99% ± 1 nell’anno di massimo follow-up (p < 0,05). Il peso e BMI sono a loro volta aumentati (p = 0,3). La complicazione più frequente post-trapianto erano le infezioni CMV, l’ipertensione arteriosa, rigetto acuto, neutropenia, la subocclusione intestinale, la dislipidemia e le disfunzioni renali. I risultati del Questionario sulla qualità della vita nei malati di fibrosi cistica hanno evidenziato un incremento dei punteggi in tutti i 12 ambiti esplorati. CONCLUSIONI: il trapianto di polmone è l’unica soluzione salvavita disponibile per pazienti con fibrosi cistica che presentano insufficienza respiratoria grave. Questo intervento può migliorare le funzioni respiratorie, il profilo metabolico e nutrizionale e la qualità della vita, anche se è necessario un monitoraggio delle complicazioni post-operatorie
Going Beyond Counting First Authors in Author Co-citation Analysis
Full text linkThe present study examines one of the fundamental aspects of author co-citation analysis (ACA) - the way co-citation
counts are defined. Co-citation counting provides the data on which all subsequent statistical analyses and mappings
are based, and we compare ACA results based on two different types of co-citation counting - the traditional type that
only counts the first one among a cited work's authors on the one hand and a non-traditional type that takes into
account the first 5 authors of a cited work on the other hand. Results indicate that the picture produced through this non-traditional author co-citation counting contains more coherent author groups and is therefore considerably clearer. However, this picture represents fewer specialties in the research field being studied than that produced through the traditional first-author co-citation counting when the same number of top-ranked authors is selected and analyzed. Reasons for these effects are discussed
Lung transplant list withdrawal in a liver transplant patient thanks to elexacaftor-tezacaftor-ivacaftor: a case report
Full text linkAbstract Background Elexacaftor-tezacaftor-ivacaftor (ETI) is a transmembrane conductance regulator modulator that significantly improves lung function in patients affected by cystic fibrosis (CF). This triple drug is currently not indicated in liver transplant patients, as clinical trials including subjects with previous solid organ transplantation are lacking. Case presentation We report on a liver transplant girl with CF-related advanced pulmonary disease meeting clinical criteria for lung transplant, who started the triple modulator because she could not get on the lung transplant waiting list due to psycho-social motivations. Since initiation of ETI therapy, she has experienced a significant improvement in respiratory function and quality of life, without adverse effects. Conclusions This case shows that ETI therapy can represent a lifesaving drug for individuals without alternatives, even in liver transplant patients. The clinical benefits of the modulator overcome risks, which may be limited with a close drug monitoring of immunosuppressants serum levels and functional liver tests
A boy with fever, cough and gross haematuria
No full textA 5 year-old boy presented with 2-days of fever and cough. On examination, he had mild dyspnoea and chest pain, with crackles and hypoventilation at the right lung base. Blood tests showed: WBC 39.1×109/L; N 28.9×109/L; Hb 11.3gr/dL; PLT 375×109/L; CRP 28.7mg/dL; ESR 41mm/h. Chest x-ray confirmed a pulmonary consolidation in the right lower lobe (figure 1), with an associated pleural effusion. Bacterial pneumonia was diagnosed and intravenous ceftriaxone 100mg/kg/die was started. The following day, he developed palpebral oedema and his urine became tea coloured. His blood pressure was 126/82mmHg (>99th percentile).1 Serum creatinine rose from 0.45mg/dl to 1.09mg/dl (39.8μmol/L - 93.4μmol/L) and C3 was 9mg/dl (n.r. 90-180mg/dl). Urinalysis revealed gross hematuria and 3+ proteinuria, with microscopicy showing dysmorphic red blood cells with casts. Ultrasounds showed enlarged kidneys with increased echogenicity
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