We report 4 pyridoxine‐dependent epilepsy patients in which good outcome was determined in three. The 4 patients were male and aged from 7 to 24 years old (from three unrelated Caucasian families). A clinical diagnosis of neonatal pyridoxine‐dependent epilepsy was confirmed by biochemical and genetic studies. Clinical evaluation was performed and medical records were reviewed for therapy implementation and management, neurodevelopment outcome, magnetic resonance imaging, and electroencephalography. All were taking pyridoxine treatment and were seizure‐free. Elevated urinary alpha‐aminoadipic semialdehyde excretion was found in all patients. Antiquitin gene analysis identified a large homozygous deletion in one patient and two heterozygous mutations in the others. Treatment with pyridoxine should be attempted for all cases of infantile and childhood refractory epilepsy, as has been the case over the last 20 years. Currently, urinary alpha‐aminoadipic semialdehyde is a reliable biomarker of pyridoxine‐dependent epilepsy, even under pyridoxine treatment. Detection of mutations in the antiquitin gene, encoding alpha‐aminoadipic semialdehyde dehydrogenase, establishes the diagnosis and allows for adequate genetic counselling.

Recent advances in molecular genetics have allowed the determination of the genetic cause of some childhood non-syndromic deafness. In Portugal only a small proportion of families are referred to a clinical genetics service in order to clarify the etiology of the deafness and to provide genetic counseling. Consequently, there are no published studies of the prior beliefs of parents about the causes of hereditary deafness of their children and their genetic knowledge after receipt of genetic counseling. In order to evaluate the impact of genetic counseling, 44 parents of 24 children with the diagnosis of non-syndromic sensorineural prelingual deafness due to mutations in the GJB2 (connexin 26), completed surveys before and after genetic counseling. Before counseling 13.6 % of the parents knew the cause of deafness; at a post-counseling setting this percentage was significantly higher, with 84.1 % of the parents accurately identifying the etiology. No significant differences were found between the answers of mothers and fathers either before or after genetic counseling. Parents' level of education was a significant factor in pre-test knowledge. After genetic counseling 95.5 % of the parents stated that the consultation had met their expectations, 70.5 % remembered correctly the inheritance pattern, and 93.2 % correctly recalled the chance of risk of deafness. These results underline the importance of genetic counseling in demystifying parents' beliefs about the etiology of their children's deafness.

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Introduction: Pompe disease or glycogen storage disease type II is an autosomal recessive disorder due to acid maltase deficiency. It is a rare disease with a prevalence of 1/40.000 in the dutch and african-american populations and 1/46000 in the australian population. There are three forms of clinical presentation (infantile-onset, childhood-onset and adult-onset), although the disease presents as a continuum of clinical phenotypes. Enzyme replacement therapy is available in Portugal since 2006.Materials and Methods: The clinical files of four patients (two sisters) were analyzed retrospectively.Results: In all, disease presented in the second year of life and the time to diagnosis ranged from two to eleven years. At diagnosis, all presented myopathic features with a delay in motor skills achievement and two had myocardium hypertrophy. Clinical suspicion arose as the result of respiratory failure during infection in two patients. Plasma creatine kinase and aminotransferases levels were increased in all. All patients progressed to pulmonary restrictive syndrome with chronic respiratory failure. The diagnosis was based on reduced activity of acid maltase in fibroblasts: 0 to 1.5% of the lower normal value. Muscle biopsy, performed in three patients, showedlysosomal glycogen accumulation. A c.1064T > C mutation in exon 6 of GAA (glucosidase-alpha-acid) gene was found in all patients, in homozygosity in one. In the sisters, it was associated to c.1666A > G and c.2065G > A mutations in exons 12 and 15, respectively and in the youngest patient, to c.380G > T mutation in exon 2. All patients started enzyme replacement therapy as soon as it became available, with good tolerance. The youngest patient died. The surviving patients maintain ventilatory support measures and physiotherapy. The oldest patient is wheelchair ridden and her sister keeps independent walking. The youngest uses a walking aid.Conclusions: Our cases are clinically included in the juvenile form of Pompe Disease. Pompe disease should be suspected in progressive myopathies at any age, especially those involving limb-girdle and respiratory muscles and in small infants with cardiomyopathy. High creatine kinase is a sensitive, although nonspecific, marker. Given the great variability of the genetic findings, demonstration of reduced activity of acid maltase (in leukocytes or other tissues) remains the diagnosis cornerstone of this rare disorder.

prostate cancer) (C60-63), 10.7% had malignant neoplasms of digestive organs (C15-26) and 8,4% showed malignant neoplasms of ill-defined, secondary and unspecified sites (C76-80). The outpatient diagnosis rate for CLL was 94.9%, inpatient rate 0.6% and in-and outpatient rate 4.6%. Overall, 266 of 1,405 pts (18.9%) (175 men [65.8%], 91 women [34.2%]) received chemotherapy in 2012 (ATC Code L01* 74.1%, PZN 9999092 23.0%, OPS 854* 2.9%). Most patients received outpatient treatment (94.0%), with 5.3%of patients received both out-and inpatient treatment and 0.7% inpatient treatment. The most commonly used treatments were rituximab (26.7%), bendamustine (20.2%), chlorambucil (11.1%), cyclophosphamide (7.7%), fludarabine (6.2%) and other treatments (28.1%). ConClusions: The majority of patients being diagnosed with CLL did not require treatment within a time period of a year. Approximately 1/3 of patients had a second malignancy, predominantly skin cancer. Treatment was primarily composed of chemotherapy or chemoimmunotherapy.objeCtives: To estimate the annual number of patients in France with Acute Myeloid Leukemia (AML) and MyeloDysplasic Syndrom (MDS) and treated with intensive chemotherapy susceptible to induce neutropenia. Methods: French hospital databases named PMSI record medical information about all the hospitalizations performed annually in France. From 2006 to 2012, databases allow linking the stays over time of a given patient with an anonymous number. In this study, PMSI databases were used to identify patient, aged more than 15, with diagnosis of AML or MDS and who were alive during the year 2012. Then, patients who underwent hospital stays for chemotherapy during more than 5 days were identified and considered as neutropenic according to experts opinions. Results: Since 2006, 51,386 patients with at least one diagnosis of AML or MDS and aged more than 15 were identified, from which only, 16,006 had at least one hospital stay in 2012 and 3,468 were hospitalized more than 5 days for chemotherapy. Among those patients, 55.2% were male, mean age was 60.4 years, 30% died during a hospital stay and 19% (664) were bone marrow grafted during the year 2012. These patients had 1.8 stays for chemotherapy per year with average chemotherapy duration of 27 days. Two third of these patients (34%) were diagnosed in 2012 and 23% in 2011. ConClusions: Among the 16,006 patients diagnosed AML or SMD and hospitalized in France in 2012, 3, 468 (21%) received intensive chemotherapy inducing neutropenia, putting them at high risk of invasive fungal infection.

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Background: Histoplasmosis is a systemic fungal infection caused by Histoplasma Capsularum. It has a worldwide distribution, with a predominant prevalence in tropical and temperate zones. It is considered an important public health problem, especially in patients with acquired immunodeficiency virus (HIV), in which poor prognosis and high mortality are evident. The objective of this study is to analyze epidemiological data and complications associated to histoplasmosis, aiming at better promotion and prevention of it.Methods & Materials: Cross-sectional, retrospective and analytical study of 27 patients diagnosed with histoplasmosis during hospitalization at Hospital Couto Maia (HCM) in Salvador, Bahia, Brazil, from 2012 to 2014. The diagnosis of histoplasmosis was confirmed by visualization of the fungus by direct research, histopathological evidence at any site, isolation of the fungus in culture medium and/or tests of specific serological reactions. The medical records were reviewed, and age, color, sex, origin, marital status, histoplasmosis classification, deaths, survival time and types of infectious complications were analyzed.Results: The majority of the patients came from Salvador (59.2%). The mean age was 42.3 years, with 51.8% being less than 40 years old, predominantly male (74%), single (70.3%) and brown (74%); 66.6% presented the disseminated form of the disease, 22.2% had acute pulmonary disease and 11.1% were ignored. The most frequent infectious complications were: AIDS (92.5%), candidiasis (44.4%), sepsis (40.7%), toxoplasmosis (22.2%), cryptococcosis (14.8%), syphilis (7.4%), hepatitis B (11.1%), HTLV (7.4%), urinary tract infection (7.4%), community acquired pneumonia (7.4%), pneumocystosis and tuberculosis (7.4%). Of the deaths (66.6%), 94.4% had AIDS and 5.5% were not diagnosed with AIDS. The mean survival time of patients with histoplasmosis was 68.9 days, with AIDS patients 71.8 days and in the non-AIDS patient 20 days. Conclusion:Patients with histoplasmosis, admitted to HCM, presented the following characteristics: young adults, male sex, single, brown, disseminated form of the disease, with multiple and concomitant opportunistic infections, presenting high mortality in patients with AIDS with low time of survival.