Leishmaniasis Mimicking Lymphoma and/or Liver Cirrhosis

A 76-year-old man was admitted to hospital with fever, weight loss, pancytopenia, hepatosplenomegaly and a double monoclonal component IgM-IgG-k, suggesting a diagnosis of myeloma. Bone marrow and liver biopsies disclosed the presence of Donovan bodies, and the titre of anti-Leishmania antibodies was extremely high. After treatment with liposomal amphotericin B, the titre of antibodies fell considerably, while monoclonal components, pancytopenia and clinical symptoms slowly disappeared. Polyclonal γ-globulins are made of innumerable monoclonal components, one of which can appear as a recognizable band and be misdiagnosed as myeloma when representing the high titre of an antibody directed towards a specific antigen.

Spontaneous Cirrhosis Regression in an IFN-beta-induced AIH-like Syndrome Following Drug Withdrawal: Art of Facts or Artifacts?

Autoimmune hepatitis (AIH) is a disease of unknown aetiology with drug-induced AIH being the most complex and not fully understood type. We present the case of a 57-year-old female patient with acute icteric hepatitis after interferon-beta-1b (IFNβ-1b) administration for multiple sclerosis (MS). Based on liver autoimmune serology, histology and appropriate exclusion of other liver diseases, a diagnosis of AIH-related cirrhosis was established. Following discontinuation of IFNβ-1b, a complete resolution of biochemical activity indices was observed and the patient remained untreated on her own decision. However, 3 years later, after a course of intravenous methylprednisolone for MS, a new acute transaminase flare was recorded which subsided again spontaneously after 3 weeks. Liver biopsy and elastography showed significant fibrosis regression (F2 fibrosis). To our knowledge, this is the first report showing spontaneous cirrhosis regression in an IFNβ-1b-induced AIH-like syndrome following drug withdrawal, suggesting that cirrhosis might be reversible if the offending fibrogenic stimulus is withdrawn.

L'intervention de l'État pour protéger les enfants contre l'obésité infantile : quelles mesures possibles?

Le présent essai s’intéresse aux mesures de protection offertes par la législation québécoise en matière de droit de l’enfant, à travers le Code civil du Québec et la Loi sur la protection de la jeunesse. Ces mesures seront analysées pour évaluer leur applicabilité et leur pertinence à l’égard de la problématique de l’obésité infantile, un problème de santé publique de plus en plus préoccupant au Québec comme ailleurs dans le monde. L’étude révèle que le fait de fournir des aliments malsains à son enfant et de lui transmettre de mauvaises habitudes de vie sont des gestes qui pourraient théoriquement être considérés comme des manquements aux devoirs d’entretien et d’éducation, attributs de l’autorité parentale. Ces gestes peuvent également être perçus comme de la négligence sur le plan physique et sur le plan de la santé. Dans ces cas, certaines mesures sont applicables selon la situation.

Primary biliary cirrhosis: proposal for a new simple histological scoring system

International audience

Multicenter prospective validation of the Baveno IV and Baveno II/III criteria in cirrhosis patients with variceal bleeding

International audience

Cirrhosis Diagnosis and Liver Fibrosis Staging: Transient Elastometry Versus Cirrhosis Blood Test.

International audience

Osteomyelitis of the maxilla in a patient with Malignant Infantile Osteopetrosis

Osteopetrosis is characterized by a considerable increase in bone density resulting in defective remodeling, caused by failure in the normal function of osteoclasts, and varies in severity. It is usually subdivided into three types: benign autosomal dominant osteopetrosis; intermediate autosomal recessive osteopetrosis; and malignant autosomal recessive infantile osteopetrosis, considered the most serious type. The authors describe a case of chronic osteomyelitis in the maxilla of a 6-year-old patient with Malignant Infantile Osteopetrosis. The treatment plan included pre-maxilla sequestrectomy and extraction of erupted upper teeth. No surgical procedure was shown to be the best to prevent the progression of oral infection. Taking into account the patient's general condition, if the patient develops severe symptomatic and refractory osteomyelitis surgery should be considered. The patient and his family are aware of the risks and benefits of surgery and its possible complications.

Ten years of hospital admissions for liver cirrhosis in Portugal

Background and aims More data on epidemiology of liver diseases in Europe are needed. We aimed to characterize hospital admissions for liver cirrhosis in Portugal during the past decade. Patients and methods We analyzed all hospital admissions for cirrhosis in Portugal Mainland between 2003 and 2012 registered in the national Diagnosis-Related Group database. Cirrhosis was classified according to etiology considering alcohol, hepatitis B, and hepatitis C. Results Between 2003 and 2012, there were 63 910 admissions for cirrhosis in Portugal Mainland; 74.4% involved male patients. Etiologies of admitted cirrhosis were as follows: 76.0% alcoholic, 1.1% hepatitis B, 1.4% hepatitis B plus alcohol, 3.6% hepatitis C, and 4.0% hepatitis C plus alcohol. There was a significant decline (P <0.001) in admissions for alcoholic cirrhosis, whereas hospitalizations for cirrhosis caused by hepatitis C or hepatitis C plus alcohol increased by almost 50% (P <0.001). Patients admitted with alcoholic plus hepatitis B or C cirrhosis were significantly younger than those with either alcoholic or viral cirrhosis (53.1 vs. 59.4 years, respectively, P <0.001). Hospitalization rates for cirrhosis were 124.4/100 000 in men and 32.6/100 000 in women. Hepatocellular carcinoma and fluid retention were more common in viral cirrhosis, whereas encephalopathy and variceal bleeding were more frequent in alcoholic cirrhosis. Hepatorenal syndrome was the strongest predictor of mortality among cirrhosis complications (odds ratio 12.97; 95% confidence interval 11.95–14.09). In-hospital mortality was 15.2%. Conclusion Despite the decline in admissions for alcoholic cirrhosis and the increase in those related to hepatitis C, the observed burden of hospitalized liver cirrhosis in Portugal was essentially attributable to alcoholic liver disease.

TcT: Tyrolean Complexity Tool

International audience

The Outcome of Infantile Onset Pompe Disease in South of Iran

Background: Infantile Onset Pompe Disease (IOPD) is a rare autosomal recessive neuromuscular disorder. It is associated with cardiomegaly, hypotonia, paresis, and death in the first year of life. Since 2006, following the use of Alglucosidase alfa as Enzyme Replacement Therapy (ERT), the patients’ survival is improved to a noticeable extent. Objectives: The purpose of this study is to examine the outcome of IOPD patients in South of Iran and the degree of responsiveness to ERT. Patients and Methods: All patients who were diagnosed with IOPD on the bases of clinical symptoms, and enzyme assay on dried blood spot, were included in the study; and were followed up regarding cardiac function, locomotor activity, and cognition. Results: Six patients with IOPD were identified. All these six patients suffered from Hypertrophic Cardiomyopathy (HCM). Four (67%) of them also had generalized hypotonia. Three patients expired during the first weeks due to severe respiratory infection. One of them also got involved with Acute Cardiopulmonary Failure while receiving the fifth dose of ERT; and expired. However, the remaining two patients had a significant improvement after the maximum of 117 weeks of following up both cardiac and locomotor findings. These two patients were the same patients who showed cardiac symptoms from the beginning but did not have generalized hypotonia. Conclusions: Although ERT has a significant effect on enhancing the survival of IOPD patients, it should be associated with meticulous heart-respiratory cares during the first months of treatment and preventing infection especially nosocomial infections.

Prenatal Diagnosis of Infantile Neuroaxonal Dystrophy

Infantile Neuroaxonal Dystrophy (INAD1, MIM # 256600), is a rare autossomal recessive neurodegenerative disorder. The clinical picture is characterized by psychomotor regression and hypotonia, which progresses to spastic tetraplegia, visual impairment and dementia. Onset is within the first 2 years of life and death usually happens before the age of 10. In 2006, Morgan et al described that mutations in PLA2G6 gene localized in chromosome 22 (22q13), caused INAD1. Evidence showed that a large proportion of patients with infantile neuroaxonal dystrophy have a mutation in the PLA2G6 gene. A 36-years-old pregnant woman presented for obstetric follow up. It was the second pregnancy of this healthy, nonconsanguineous couple. Their 7 year-old daughter was affected with Infantile Neuroaxonal Dystrophy. Molecular testing was done in the child and, as a causal mutation was detected, it was possible to offer a specific prenatal diagnosis. The molecular study of PLA2G6 gene by amniocentesis showed the presence of a mutation in heterozygoty and the karyotype was normal for a female foetus. To our knowledge, this is the first molecular prenatal diagnosis of INAD1 in Portugal.

Obesità infantile: abitudini alimentari e stili di vita delle famiglie. Un'analisi sociologica sul territorio riminese

L'obesità infantile può essere considerata una delle maggiori sfide sanitarie del XXI secolo. In Italia, la fascia d'età più colpita è quella tra i 6 e gli 11 anni. L'infanzia e l'adolescenza non solo influenzano lo sviluppo fisico, cognitivo e sociale dell'adulto, ma anche l'aspettativa di vita. Inoltre, l'interruzione dell'insegnamento in classe e le misure di contenimento di Covid-19 hanno aumentato il comfort food, la sedentarietà e la vulnerabilità socio-economica delle famiglie. Lo scopo del lavoro di ricerca è stato quello di studiare i fattori sociali che hanno influenzato le abitudini alimentari e gli stili di vita delle famiglie con bambini di età compresa tra i 6 e gli 11 anni, all'interno dell'ambiente di socializzazione primario (famiglia) e secondario (scuola e altre istituzioni) anche durante la pandemia di COVID-19. La ricerca è stata condotta in Emilia-Romagna nella città di Rimini e poi estesa al contesto europeo contemporaneo. Per indagare questo punto, è stata utilizzata una metodologia in parte qualitativa e in parte quantitativa. L'approccio mosaico composto da 15 interviste semi-strutturate; 8 focus group e 5 etnografie ha permesso di costruire un questionario, online e cartaceo, somministrato a 361 genitori. I principali risultati rivelano che (1) i bambini sono ingrassati durante il periodo di Covid; (2) esiste una correlazione tra il peso della madre e il peso del bambino; (3) le madri sottovalutano l'obesità dei figli.

Ruolo dell'attività di arrampicata nel percorso abilitativo del bambino affetto da Paralisi Cerebrale Infantile: Scoping Review

Background: La paralisi cerebrale infantile (PCI) è una frequente causa di disabilità nei bambini e nei giovani adulti. Consiste in un gruppo di disturbi neurologici permanenti che causano primariamente limitazioni e disfunzioni nello sviluppo motorio; a tali disturbi possono associarsi problematiche sensoriali e cognitive. Una specifica Arrampicata sportiva, mediante una parete adattiva, può essere un’interessante attività terapeutica da associare al tradizionale programma abilitativo per i bambini con PCI. Obiettivo: L’obiettivo di questa Scoping Review è quello di andare a studiare, approfondire e sintetizzare le evidenze della ricerca rispetto al ruolo della parete di arrampicata come attività aggiuntiva e di sostegno all’interno del progetto abilitativo dei bambini affetti da paralisi cerebrale infantile. Metodi: La ricerca sistematica e bibliografica è stata realizzata mediante la consultazione di banche dati, riviste di giornali e grey literature. È stata effettuata un’analisi degli articoli pertinenti rispetto al quesito clinico di partenza: “Cosa ci dice la Letteratura esistente in merito al ruolo dell’attività di Arrampicata nel percorso abilitativo del bambino affetto da Paralisi Cerebrale Infantile?”. Risultati: Dalla selezione sono stati inclusi 8 articoli, eterogenei tra loro rispetto alla tipologia di studio. Il processo di selezioni delle fonti di evidenza è stato riepilogato tramite un diagramma di flusso. I contenuti di ogni articolo sono stati schematizzati in una tabella sinottica e in seguito sintetizzati per ciascuno obiettivo dello studio, partecipanti, intervento e risultati. Conclusioni: I risultati mostrano come nei bambini con PCI un’adattata attività di arrampicata, inserita in un programma fisioterapico, sia uno strumento terapeutico aggiuntivo nel determinare un miglioramento della mobilità e del controllo motorio, principalmente di arti superiori, in funzione di un maggior sviluppo delle abilità nelle ADL.

Aplicação do escore MELD em pacientes submetidos a transplante de fígado: análise retrospectiva da sobrevida e dos fatores preditivos a curto e longo prazo

BACKGROUND: The model for end-stage liver disease (MELD) was developed to predict short-term mortality in patients with cirrhosis. There are few reports studying the correlation between MELD and long-term posttransplantation survival. AIM: To assess the value of pretransplant MELD in the prediction of posttransplant survival. METHODS: The adult patients (age >18 years) who underwent liver transplantation were examined in a retrospective longitudinal cohort of patients, through the prospective data base. We excluded acute liver failure, retransplantation and reduced or split-livers. The liver donors were evaluated according to: age, sex, weight, creatinine, bilirubin, sodium, aspartate aminotransferase, personal antecedents, brain death cause, steatosis, expanded criteria donor number and index donor risk. The recipients' data were: sex, age, weight, chronic hepatic disease, Child-Turcotte-Pugh points, pretransplant and initial MELD score, pretransplant creatinine clearance, sodium, cold and warm ischemia times, hospital length of stay, blood requirements, and alanine aminotransferase (ALT >1,000 UI/L = liver dysfunction). The Kaplan-Meier method with the log-rank test was used for the univariable analyses of posttransplant patient survival. For the multivariable analyses the Cox proportional hazard regression method with the stepwise procedure was used with stratifying sodium and MELD as variables. ROC curve was used to define area under the curve for MELD and Child-Turcotte-Pugh. RESULTS: A total of 232 patients with 10 years follow up were available. The MELD cutoff was 20 and Child-Turcotte-Pugh cutoff was 11.5. For MELD score > 20, the risk factors for death were: red cell requirements, liver dysfunction and donor's sodium. For the patients with hyponatremia the risk factors were: negative delta-MELD score, red cell requirements, liver dysfunction and donor's sodium. The regression univariated analyses came up with the following risk factors for death: score MELD > 25, blood requirements, recipient creatinine clearance pretransplant and age donor >50. After stepwise analyses, only red cell requirement was predictive. Patients with MELD score < 25 had a 68.86%, 50,44% and 41,50% chance for 1, 5 and 10-year survival and > 25 were 39.13%, 29.81% and 22.36% respectively. Patients without hyponatremia were 65.16%, 50.28% and 41,98% and with hyponatremia 44.44%, 34.28% and 28.57% respectively. Patients with IDR > 1.7 showed 53.7%, 27.71% and 13.85% and index donor risk <1.7 was 63.62%, 51.4% and 44.08%, respectively. Age donor > 50 years showed 38.4%, 26.21% and 13.1% and age donor <50 years showed 65.58%, 26.21% and 13.1%. Association with delta-MELD score did not show any significant difference. Expanded criteria donors were associated with primary non-function and severe liver dysfunction. Predictive factors for death were blood requirements, hyponatremia, liver dysfunction and donor's sodium. CONCLUSION: In conclusion MELD over 25, recipient's hyponatremia, blood requirements, donor's sodium were associated with poor survival.