Snail vectors of Schistosoma mansoni in Alagoas, Northeast Brazil: spatial distribution in the hydrographic grid of the state.

Schistosomiasis mansoni is a parasitic infectious disease of significant epidemiological importance caused by Schistosoma mansoni. The intermediate hosts are snails of the genus Biomphalaria spp. As gastropods are crucial for the spread of the disease, this study aimed to assess the influence of water bodies on the distribution of snails responsible for transmitting S.

The Relationship Between Different Bench Test Methodologies and Accuracy of Insulin Infusion Pumps: A Systematic Literature Review.

Diabetes technology has rapidly evolved, and insulin infusion pumps (IIPs) have gained worldwide acceptance in diabetes care. The safety of medical equipment is highly discussed, imposing complex challenges in its use. The accuracy of IIPs can be determined through laboratory tests, generally following the IEC 60601-2-24 protocol.

Felty's syndrome - a rare case of febrile neutropenia.

Felty's syndrome (rheumatoid arthritis with neutropenia and splenomegaly) is a rare condition with poor long-term prognosis, mainly as a result of severe infection risk. An effective treatment strategy has not been developed so far and current treatment options are based upon case reports, small series and clinical experience since no randomized clinical trials are available. The authors describe the case of a 53-year-old female patient with a 14-year history of rheumatoid arthritis presenting with fever, neutropenia and splenomegaly.

Design, synthesis, and evaluation of venom serine protease peptidic inhibitors.

Background: In Central and South America, snakebite envenomation is mainly caused by spp. snakes, whose venoms feature significant biochemical richness, including serine proteases. The available bothropic antivenoms are efficient in avoiding fatalities, but do not completely neutralize venom serine proteases, which are co-responsible for some disorders observed during envenomation.

Mechanisms of action of antimicrobial peptides ToAP2 and NDBP-5.7 against Candida albicans planktonic and biofilm cells.

Candida albicans is a major cause of human infections, ranging from relatively simple to treat skin and mucosal diseases to systemic life-threatening invasive candidiasis. Fungal infections treatment faces three major challenges: the limited number of therapeutic options, the toxicity of the available drugs, and the rise of antifungal resistance. In this study, we demonstrate the antifungal activity and mechanism of action of peptides ToAP2 and NDBP-5.

Reactive Arthritis - A Rare Complication of Intravesical BCG Instillation.

Unlabelled: Reactive arthritis (ReA) with the classic triad of arthritis, conjunctivitis and urethritis, previously termed Reiter's syndrome, is a systemic illness, usually induced by genitourinary or gastrointestinal infections. However, it can be a rare complication of intravesical Bacillus Calmette-Guérin instillation (iBCG), a therapy prepared from attenuated strains of , a common and effective treatment for carcinoma in situ of the bladder (CisB). We report a case of a patient with CisB who developed ReA after iBCG.

Osteogenesis imperfect: clinical and epidemiological findings in a series of pediatric patients.

Background: Osteogenesis imperfecta (OI) is the most common hereditary bone disorder with an incidence of one in 10,000-25,000 births. It is caused mainly by mutations in the genes that code for Type I collagen chains. In most cases, it shows an autosomal dominant inheritance pattern.

5α-Reductase type 2 deficiency in families from an isolated Andean population in Venezuela.

5α-Reductase type 2 deficiency causes a 46,XY disorder of sex development (DSD) characterized by ambiguous external genitalia, rudimentary prostate, and normal internal genitalia. The disease prevalence worldwide is low, but in a small and isolated village of the Venezuelan Andes, a higher incidence has been found. DNA analysis of the SRD5A2 gene was performed in three inbred affected individuals clinically diagnosed with DSD.

Trisomy 13 mosaicism.

Background: Trisomy 13 is a chromosomal alteration with an incidence of 1 in 10,000 to 20,000 births. It can occur completely, partially or in mosaicism; the latter occurs when a percentage of cells are trisomic for chromosome 13, while the rest are euploid in an individual and corresponds to only 5% of all cases. Patients with trisomy 13 present a wide variable expressivity, ranging from severe malformations with early death (phenotype similar to the complete form and more frequent), to normal development and few dysmorphic findings.

[Wolf-Hirschhorn syndrome. Description of five cases characterized by means of single nucleotide polymorphism microarrays].

Wolf-Hirschhorn syndrome is a polymalformative entity due to the microdeletion in the distal region of the short arm of chromosome 4 (4p16.3), which produces a series of clinical manifestations that can vary depending on the type and size of the genetic defect in this contiguous gene syndrome. Five patients are presented, three of them female, all with the primary clinical findings, characterized by "Greek warrior helmet appearance" facial feature, growth retardation and psychomotor development delay.

Occam's razor versus Hickam's dictum: two very rare tumours in one single patient.

Occam's razor, the principle that a single explanation is the most likely in medicine, assumes that when a patient has multiple symptoms the clinician seeks a single diagnosis rather than diagnosing multiple and different ones. However, as proposed by Hickam's dictum, sometimes rare different diseases occurred in only one patient. We present a patient with a simultaneous diagnosis of two rare tumours, a cardiac hemangioma (primary cardiac tumour, often misdiagnosed as myxoma) and an appendiceal mucocele (a lesion of the appendix that can be neoplastic or not).

[Clinical, biochemical and molecular findings of propionic acidemia].

Propionic acidemia is an infrequent disorder with an autosomal recessive inheritance pattern caused by the deficiency of the mitochondrial enzyme propionyl-CoA carboxylase that converts propionyl-CoA to D-methylmalonyl-CoA. We present the case of a male newborn who showed signs of respiratory distress, vomiting and tiredness during feeding. He presented metabolic acidosis, positive serum and urine ketone bodies, hyperammonemia, anemia, thrombocytopenia and hypoproteinemia.

[Hallazgos clínicos y epidemiológicos en la neurofibromatosis tipo 1 y el complejo esclerosis tuberosa en una serie de pacientes pediátricos].

IntroducciÓn: La neurofibromatosis tipo 1 (NF1) es una entidad genética con una incidencia de 1 entre 2,500 a 3,500 nacimientos. Por su parte, el complejo esclerosis tuberosa (CET) presenta una incidencia de 1 entre 6,000 a 10,000 nacimientos. Ambas entidades neurocutáneas cursan con un patrón de herencia autosómico dominante, expresividad variable y la morbimortalidad se encuentra asociada a complicaciones multisistémicas.

[Clinical and molecular study in a family with cleidocranial dysplasia].

Cleidocranial dysplasia is an uncommon bone dysplasia with an autosomal dominant inheritance pattern characterized by short stature, large fontanels, midface hypoplasia, absence or hypoplasia of clavicles and orodental alterations. This is Estudio clínico y molecular en una familia con displasia cleidocraneal Clinical and molecular study in a family with cleidocranial dysplasia produced by mutations in the RUNX2 gene located at 6p21.1.

[Mosaic trisomy 18. Series of cases].

Trisomy 18 syndrome (T18) is a clinical and genetic disorder, which has a full extra chromosome 18 in each cell, variant that is called free trisomy. In addition, it can occur in partial and mosaic form. It is characterized by intrauterine growth restriction, psychomotor and mental retardation, characteristic craniofacial findings, congenital heart disease, hypoplastic pelvis, clenched hand and rocker-bottom foot, among others.

Design, Synthesis and Biological Evaluation of Betulinic Acid Derivatives as New Antitumor Agents for Leukemia.

Background: Chronic myeloid leukemia (CML) is currently treated with imatinib, a Bcr-Abl inhibitor. However, resistance to this drug usually develops over time. Triptolide, a diterpenoid triepoxide, has been shown active against CML cells resistant to imatinib, acting mainly on the level of Bcr-Abl transcription inhibition.

Larvicidal activity of natural and modified triterpenoids against Aedes aegypti (Diptera: Culicidae).

Background: Insecticide resistance to commonly used substances demands new molecules for the chemical control of the dengue vector Aedes aegypti. Because natural product sources have been an alternative to obtain larvicidal compounds, the aim of this study was to evaluate the triterpenoids betulinic (BA) and ursolic (UA) acids and their semi-synthetic derivatives against larval Ae. aegypti.

Caatinga plants: Natural and semi-synthetic compounds potentially active against Trichomonas vaginalis.

Trichomonas vaginalis causes trichomoniasis; the most common but overlooked non-viral sexually transmitted disease worldwide. The treatment is based at 5'-nitroimidazoles, however, failure are related to resistance of T. vaginalis to chemotherapy.

[Clinical and molecular study of the Noonan syndrome].

Noonan syndrome is a relatively common autosomal dominant entity, clinically variable and genetically heterogeneous; characterized by postnatally reduced growth, distinctive facial dysmorphism, cardiac defects and variable cognitive deficits. The PTPN11 gene is located on the long arm of chromosome 12 and is primarily responsible for the clinically diagnosed cases of this entity. We report the case of a 18 month-old boy, evaluated in a multidisciplinary way, with clinic and molecular diagnosis of Noonan syndrome, with the missense mutation in PTPN11 gene, G503R (c.

Two series of new semisynthetic triterpene derivatives: differences in anti-malarial activity, cytotoxicity and mechanism of action.

Background: The discovery and development of anti-malarial compounds of plant origin and semisynthetic derivatives thereof, such as quinine (QN) and chloroquine (CQ), has highlighted the importance of these compounds in the treatment of malaria. Ursolic acid analogues bearing an acetyl group at C-3 have demonstrated significant anti-malarial activity. With this in mind, two new series of betulinic acid (BA) and ursolic acid (UA) derivatives with ester groups at C-3 were synthesized in an attempt to improve anti-malarial activity, reduce cytotoxicity, and search for new targets.

[Pearson syndrome. Case report].

Among the etiologies of anemia in the infancy, the mitochondrial cytopathies are infrequent. Pearson syndrome is diagnosed principally during the initial stages of life and it is characterized by refractory sideroblastic anemia with vacuolization of marrow progenitor cells, exocrine pancreatic dysfunction and variable neurologic, hepatic, renal and endocrine failures. We report the case of a 14 month-old girl evaluated by a multicentric study, with clinic and molecular diagnosis of Pearson syndrome, with the 4,977-base pair common deletion of mitochondrial DNA.