The 2009 Pandemic Influenza A (H1N1) Infection: Renal Histopathology Findings in Two Infected Patients

Background: Acute kidney injury in the pandemic swine origin influenza A virus (H1N1) infection has been reported as coursing with severe illness, although renal pathogenic mechanisms and histologic features are still being characterised. Case Report: We present two patients admitted with H1N1 pneumonia, sepsis, acute respiratory distress syndrome and need for invasive mechanical ventilation who developed acute kidney injury and became dialysis-dependent. In both cases a kidney biopsy was performed to establish a definitive diagnosis. Severe acute tubular necrosis was identified, with no further abnormalities. Conclusion: This report seems to confirm that the acute kidney injury in H1N1 infection is focused on the tubular cells. Our cases corroborate the renal histopathologic findings of other studies, highlighting the central role of the tubular cell. We bring new evidence of the histopathology of AKI in H1N1 infection since our data were collected in living patients and not via post-mortem studies.

Colestase Intra-Hepática da Gravidez: Fator de Risco para Síndrome de Dificuldade Respiratória Neonatal?

Introdução: A colestase intra-hepática da gravidez está associada a complicações fetais e neonatais graves, incluindo síndrome de dificuldade respiratória. Tem sido recomendada terapêutica materna com ácido ursodesoxicólico e antecipação do parto para reduzir o risco de complicações. Os objetivos foram determinar a associação entre colestase intra-hepática da gravidez e síndrome de dificuldade respiratória neonatal e avaliar a relação com níveis maternos de ácidos biliares e procedimentos perinatais. Metodologia: Estudo caso-controlo incluindo grávidas com colestase intra-hepática da gravidez e respetivos recém-nascidos (grupo colestase), com parto numa maternidade portuguesa de nível III entre 2006 e 2010. Os controlos foram emparelhados para idade gestacional e peso ao nascimento (1 caso para 2 controlos). Resultados: Foram incluídas 42 grávidas com colestase intra-hepática da gravidez (incidência 0,15%) e 53 recém- -nascidos. Dez recém-nascidos do grupo colestase (19,2%) e 14 controlos (13,7%) tiveram dificuldade respiratória(p=0,375). A FiO2 máxima foi superior no grupo colestase (mediana 34,0% vs. 25,0%; p=0,294), mas sem diferença quanto à ventilação mecânica. A idade gestacional ao diagnóstico de colestase materna foi menor nos recém-nascidos com dificuldade respiratória (mediana 30,5 vs 33,5 semanas; p=0,024). A taxa de parto desencadeado iatrogenicamente(69,8% vs. 40,6%; p=0,001; OR=3,4), cesariana (66,0% vs 44,3%; p=0,01; OR=2,4) e corticoterapia pré-natal (43,4% vs. 25,5%; p=0,022) foi significativamente maior no grupo colestase. Não se encontrou relação entre dificuldade respiratória neonatal e níveis maternos de ácidos biliares nem terapêutica materna com ácido ursodesoxicólico. Conclusão: A colestase intra-hepática da gravidez, sobretudo de início precoce, está tendencialmente associada a síndrome de dificuldade respiratória neonatal. A antecipação do parto traz riscos adicionais para os recém-nascidos. A corticoterapia pré-natal neste contexto pode ter mascarado a verdadeira incidência de dificuldade respiratória neonatal.

Mastocytosis: a Rare Case of Anaphylaxis in Paediatric Age and Literature Review

The term “mastocytosis” denotes a heterogeneous group of disorders characterised by abnormal growth and accumulation of mast cells (MC) in one or more organ systems. Symptoms result from MC chemical mediator’s release, pathologic infiltration of neoplastic MC in tissues or both. Multiple molecular, genetic and chromosomal defects seem to contribute to an autonomous growth, but somatic c-kit D816V mutation is more frequently encountered, especially in systemic disease. We present a literature review of mastocytosis and a rare case report of an 18 month-old-girl with a bullous dermatosis, respiratory distress and anaphylaxis, as clinical manifestations of mastocytosis. The developments of accepted classification systems and novel useful markers allowed a re-evaluation and updating of the classification of mastocytosis. In paediatric age cutaneous forms of disease prevail and may regress spontaneously. SM is more frequently diagnosed in adults and is a persistent(clonal) disease of bone marrow. The clinical course in these patients is variable.Today diagnostic criteria for each disease variant are reasonably well defined. There are, however, peculiarities, namely in paediatric age, that makes the diagnostic approach difficult. Systemic disease may pose differential diagnostic problems resulting from multiple organ systems involvement. Coversly, the “unexplained” appearance of those symptoms with no skin lesions should raise the suspicion of MC disease. This case is reported in order to stress the clinical severity and difficult diagnostic approach that paediatric mastocytosis may assume.

Hand, Foot, and Mouth Syndrome in an Immunocompetent Adult: a Case Report

BACKGROUND: Hand, foot, and mouth syndrome (HFMS) is a common acute illness. It is characterized by mild clinical symptoms including fever, blisters, and sores in the mouth and on the palms and soles following a 3- to 7-day incubation period. This syndrome is rarely seen in adults. CASE PRESENTATION: A 35-year-old male Caucasian patient had a history of multiple episodes of acute pharyngitis, hypertension, hypercholesterolemia, and occasional abdominal pain. He presented with polyarthralgia in the knees and hands and odynophagia, followed by fever, oral mucosal aphthous lesions, and vesicles on the palms and soles. Three weeks after presentation, he was admitted to the emergency room with acute myocarditis. The in-hospital evaluation revealed positive serology for coxsackie A9 (1:160), positive anti-transglutaminase and anti-gliadin antibodies, normal immunoglobulins, and human immunodeficiency virus negativity. CONCLUSION: We herein describe a case of HFMS that was associated with coxsackie A9 infection complicated by acute myocarditis. Although an association between celiac disease and HFMS has not been described, this patient's immunologic disruption could have favored the development of infection and ultimately HFMS.

Use of Distress and Depression Thermometers to Measure Psychosocial Morbidity Among Southern European Cancer Patients

GOALS OF WORK: Recent literature has indicated the need for rapid evaluation of psychosocial issues secondary to cancer. Because of the problems of routine use of psychometric instruments, short instruments such as visual analogue scales or one-item 0-10 scales have been developed as valid assessment alternatives. PATIENTS AND METHODS: A study was conducted to examine the role of two 0-10 scales in measuring emotional stress (distress thermometer, DT) and depressed mood (mood thermometer, MT), respectively, in a multicenter study carried out in southern European countries (Italy, Portugal, Spain, and Switzerland). A convenience sample of 312 cancer outpatients completed the DT and MT and the Hospital Anxiety Depression Scale (HADS). MAIN RESULTS: DT was more significantly associated HADS anxiety than HADS depression while MT was related both to HADS anxiety and depression. The correlation of MT with HADS was higher than DT. A cutoff point >4 on the DT maximized sensitivity (65%) and specificity (79%) for general psychosocial morbidity while a cutoff >5 identified more severe "caseness" (sensitivity=70%; specificity=73%). On the MT, sensitivity and specificity for general psychosocial morbidity were 85% and 72% by using the cutoff score >3. A score >4 on the MT was associated with a sensitivity of 78% and a specificity of 77% in detecting more severe caseness. CONCLUSIONS: Two simple instruments, the DT and the MT, were found to have acceptable levels of sensitivity and specificity in detecting psychosocial morbidity. Compared to the HADS, however, the mood MT performed better than the DT.

McCune Albright Syndrome: A Diagnosis to be Kept in Mind

Precocious puberty, defined as the development of secondary sexual characteristics before the age of 8, often leads to anxiety in patients and their families but also in clinicians searching for the final diagnosis. After adequate investigation, the majority of the cases in girls turn out to be idiopathic. The authors present a case of McCune Albright syndrome in order to call attention to a rare cause of sexual precocity and the value of ultrasound in the evaluation of these situations. 10 years old infant girl admitted in our department due to irregular menstrual bleeding. She experienced a vaginal bleeding by the age of 3 which led to the diagnosis of McCune Albright Syndrome after a complete evaluation. Pubertal assessment revealed a reversed sequence in the remaining events with adrenarche at 5 and thelarche at 8. Hormonal evaluation demonstrated low FSH and LH levels (11,2 and 6,72 respectively) with high estrogen (204). Pelvic ultrasound showed a normal sized uterus (73x 29x32 mm), endometrial thickness of 5 mm and ovaries with several microfollicles and a copus luteum measuring 23 mm in the right ovary. McCune Albright syndrome is a very uncommon cause of sexual precocity that should, however, be suspected in all infant girls who present with vaginal bleeding. It is characterized by a triad: polyostotic fibrous dysplasia, gonadotropin-independent precocious puberty and café-au-lait skin spots. Due to autonomous production of estrogen by the ovaries, ultrasound image of the female reproductive tract is inconsistent with chronologic age. Pelvic ultrasound demonstrates a normal sized uterus with a well defined cervix and clearly identified ovaries with several follicles, similar to adult women of reproductive age. Ultrasonography of the pelvis has also an important role excluding other causes of GnRH-independent precocious puberty conditions like ovarian cysts or tumors.

The Intensive Care Global Study on Severe Acute Respiratory Infection (IC-GLOSSARI): a Multicenter, Multinational, 14-Day Inception Cohort Study

PURPOSE: In this prospective, multicenter, 14-day inception cohort study, we investigated the epidemiology, patterns of infections, and outcome in patients admitted to the intensive care unit (ICU) as a result of severe acute respiratory infections (SARIs). METHODS: All patients admitted to one of 206 participating ICUs during two study weeks, one in November 2013 and the other in January 2014, were screened. SARI was defined as possible, probable, or microbiologically confirmed respiratory tract infection with recent onset dyspnea and/or fever. The primary outcome parameter was in-hospital mortality within 60 days of admission to the ICU. RESULTS: Among the 5550 patients admitted during the study periods, 663 (11.9 %) had SARI. On admission to the ICU, Gram-positive and Gram-negative bacteria were found in 29.6 and 26.2 % of SARI patients but rarely atypical bacteria (1.0 %); viruses were present in 7.7 % of patients. Organ failure occurred in 74.7 % of patients in the ICU, mostly respiratory (53.8 %), cardiovascular (44.5 %), and renal (44.6 %). ICU and in-hospital mortality rates in patients with SARI were 20.2 and 27.2 %, respectively. In multivariable analysis, older age, greater severity scores at ICU admission, and hematologic malignancy or liver disease were independently associated with an increased risk of in-hospital death, whereas influenza vaccination prior to ICU admission and adequate antibiotic administration on ICU admission were associated with a lower risk. CONCLUSIONS: Admission to the ICU for SARI is common and associated with high morbidity and mortality rates. We identified several risk factors for in-hospital death that may be useful for risk stratification in these patients.

Under-Report and Underdiagnosis of Chronic Respiratory Diseases in an African Country

BACKGROUND: Chronic respiratory diseases (CRD) are greatly underestimated. The aim of this study was to assess the burden associated with reported CRD and chronic obstructive pulmonary disease, as defined on the basis of various standardized criteria, by estimating their point prevalence in a sample of individuals attending the Primary Health Care (PHC) level and Emergency Room (ER) Departments in Cape Verde (CV) archipelago. The second aim of the study was to identify factors related to airways obstruction and reported CRD in this population. METHODS: A cross-sectional study was carried out in CV during 2 weeks. Outpatients aged more than 20 years seeking care at PHC level and ER answered a standardized questionnaire and were subjected to spirometry, independently of their complaint. Two criteria for airways obstruction were taken into account: forced expiratory volume (FEV(1)) <80% of the predicted value and FEV(1)/forced vital capacity (FVC) ratio <0.70. RESULTS: A total of 274 individuals with a satisfactory spirometry were included. 22% of the individuals had a FEV(1) < 80%. Individuals older than 46 years had a higher risk of having airways obstruction. Asthma diagnosis (11%) had a clear association with airways obstruction. Smoking was a risk factor for a lower FEV(1). Working in a dust place and cooking using an open fire were both related to chronic bronchitis and asthma diagnosis. CONCLUSION: Under-report and underdiagnosis of chronic respiratory conditions seem to be a reality in CV just as in other parts of the world. To improve diagnosis, our results reinforce the need of performing a spirometry

Mutations in the MECP2 Gene Are Not a Major Cause of Rett Syndrome-Like or Related Neurodevelopmental Phenotype in Male Patients

Rett syndrome is a genetic neurodevelopmental disorder that affects mainly girls, but mutations in the causative MECP2 gene have also been identified in boys with classic Rett syndrome and Rett syndrome-like phenotypes. We have studied a group of 28 boys with a neurodevelopmental disorder, 13 of which with a Rett syndrome-like phenotype; the patients had diverse clinical presentations that included perturbations of the autistic spectrum, microcephaly, mental retardation, manual stereotypies, and epilepsy. We analyzed the complete coding region of the MECP2 gene, including the detection of large rearrangements, and we did not detect any pathogenic mutations in the MECP2 gene in these patients, in whom the genetic basis of disease remained unidentified. Thus, additional genes should be screened in this group of patients.