PIGQ-Related Glycophosphatidylinositol Deficiency Associated with Nonprogressive Congenital Ataxia.

The glycophosphatidylinositol (GPI) anchor pathway plays an essential role in posttranslational modification of proteins to facilitate proper membrane anchoring and trafficking to lipid rafts, which is critical for many cell functions, including embryogenesis and neurogenesis. GPI biosynthesis is a multi-step process requiring the activity of over 25 distinct genes, most of them belonging to the phosphatidylinositol glycan (PIG) family and associated with rare neurodevelopmental disorders. PIGQ encodes the phosphatidylinositol glycan class Q protein and is part of the GPI-N-acetylglucosaminyltransferase complex that initiates GPI biosynthesis from phosphatidylinositol (PI) and N-acetylglucosamine (GlcNAc) on the cytoplasmic side of the endoplasmic reticulum (ER). Pathogenic variants in the PIGQ gene have been previously reported in 10 patients with congenital hypotonia, early-infantile epileptic encephalopathy, and premature death occurring in more than half cases. We detected a novel homozygous variant in PIGQ (NM_004204.5: c.1631dupA; p.Tyr544fs*79) by WES trio-analysis of a male patient with a neurodevelopmental disorder characterized by nonprogressive congenital ataxia, intellectual disability, generalized epilepsy, and cerebellar atrophy. Flow cytometry confirmed deficiency of several GPI-anchored proteins on leukocytes (CD14, FLAER). Clinical features of this case broaden the phenotypic spectrum of PIGQ-related GPI deficiency, outlining the importance of glycophosphatidylinositol (GPI) anchor pathway in the pathogenesis of cerebellar ataxia.

Facial Squamous Cell Carcinoma and Abdominal Peripheral Nerve Sheath Tumour with Rhabdomyoblastic Differentiation in a Rough-toothed Dolphin (Steno bredanensis).

We report the pathological features of a facial squamous cell carcinoma (SCC) and an abdominal peripheral nerve sheath tumour (PNST) with rhabdomyoblastic differentiation in an aged free-ranging rough-toothed dolphin (Steno bredanensis). The animal was found stranded dead in poor body condition. On external examination, there was a 25 × 7 × 3 cm extensively ulcerated area on the right maxillary region of the rostrum, involving the oral mucocutaneous junction with prominent nodular edges, severe soft tissue loss and extensive maxillary and premaxillary bone lysis. On abdominal dissection, a 5 × 4 × 3.5 cm pale tan to red, raised mass expanded the inner aspect of the right transverse abdominis muscle. Microscopically, the aggressive facial lesion was an acantholytic SCC with extensive osteolysis; there was no evidence of metastasis in the tissues examined. The abdominal mass had cytohistomorphological features compatible with a localized PNST, including whorling, Antoni A and Antoni B areas and Verocay bodies intermixed with rhabdomyoblastic components, as suggested by phosphotungstic acid haematoxylin stain. This neoplasm was locally infiltrative, yet no metastases were observed in the tissues examined. No immunohistochemical investigations could be performed due to lack of tissue availability. Total DNA from the formalin-fixed and paraffin wax-embedded SCC was extracted and tested by polymerase chain reaction for herpesvirus and papillomavirus genetic material. There was no amplification for either of these genera. Other pathological findings observed in this animal were related to the 'live-stranding stress response'. The severity and extent of the facial SCC likely related to anorexia and poor body condition and might have played a role in the stranding and death of this dolphin. These two tumour subtypes add to the relatively uncommon reports of neoplasia in cetaceans. Specifically, these appear to be the first neoplasia records for rough-toothed dolphins, including the first documentation of a PNST with features compatible with rhabdomyoblastic differentiation in a marine mammal.

Correction to: Biallelic Variants in the Nuclear Pore Complex Protein NUP93 Are Associated with Non-progressive Congenital Ataxia.

The original version of this article unfortunately contained mistake in Fig. 3 image.

Biallelic Variants in the Nuclear Pore Complex Protein NUP93 Are Associated with Non-progressive Congenital Ataxia.

Nuclear pore complexes (NPCs) are the gateways of the nuclear envelope mediating transport between cytoplasm and nucleus. They form huge complexes of 125 MDa in vertebrates and consist of about 30 different nucleoporins present in multiple copies in each complex. Here, we describe pathogenic variants in the nucleoporin 93 (NUP93) associated with an autosomal recessive form of congenital ataxia. Two rare compound heterozygous variants of NUP93 were identified by whole exome sequencing in two brothers with isolated cerebellar atrophy: one missense variant (p.R537W) results in a protein which does not localize to NPCs and cannot functionally replace the wild type protein, whereas the variant (p.F699L) apparently supports NPC assembly. In addition to its recently described pathological role in steroid-resistant nephrotic syndrome, our work identifies NUP93 as a candidate gene for non-progressive congenital ataxia.

Quantitative magneto-optical investigation of superconductor/ferromagnet hybrid structures.

We present a detailed quantitative magneto-optical imaging study of several superconductor/ferromagnet hybrid structures, including Nb deposited on top of thermomagnetically patterned NdFeB and permalloy/niobium with erasable and tailored magnetic landscapes imprinted in the permalloy layer. The magneto-optical imaging data are complemented with and compared to scanning Hall probe microscopy measurements. Comprehensive protocols have been developed for calibrating, testing, and converting Faraday rotation data to magnetic field maps. Applied to the acquired data, they reveal the comparatively weaker magnetic response of the superconductor from the background of larger fields and field gradients generated by the magnetic layer.

Eficacia de la hipnosis en psicologia del deporte. Importancia de la comunicación y estudio de casos / Eficácia da hipnose na psicologia do esporte. Importância da comunicação e estudos de caso / Efficacy of hypnosis in sports psychology. Importance of communication and study of cases

En la historia del desarrollo de los procedimientos médicos y psicológicos, la hipnosis ha protagonizado un papel destacado, siendo una intervención clínica valiosa en el tratamiento de una extensa variedad de problemas. A pesar de ello no se ha librado de controversias y mitos acerca de su naturaleza. En el presente trabajo se revisa el desarrollo histórico de la hipnosis y los modelos explicativos más relevantes, desde aquellos que la consideran un estado alterado de conciencia hasta los que defienden que los fenómenos hipnóticos pueden ser explicados por las mismas variables que la conducta y la experiencia no hipnótica. También se revisan algunas de las definiciones que han surgido desde los distintos paradigmas, así como la evidencia empírica de su eficacia, comprobándose que cuando es utilizada como coadyuvante de los tratamientos médicos y psicológicos incrementa la eficacia de los mismos, siendo de especial relevancia la relación de comunicación que se establece entre clínico y paciente. Se finaliza con una revisión de su aplicación en el ámbito del deporte y la presentación de un estudio de casos (3 atletas y 1 futbolista) en los que se utiliza hipnosis coadyuvante con otras técnicas. En todos los casos se logran resultados óptimos (AU)

In the history of the development of medical and psychological procedures, hypnosis has played a prominent role, being a valuable clinical intervention in the treatment of a wide variety of problems. However, it has not been spared controversy and myths about its nature. In the present work we review the historical development of hypnosis and the most relevant explanatory models from those who consider it an altered state of consciousness to those who argue that hypnotic phenomena can be explained by the same variables as behavior and experience Not hypnotic. We also review some of the definitions that have emerged from the different paradigms, as well as the empirical evidence of their effectiveness, proving that when used as an adjunct to medical and psychological treatments increases their effectiveness, being of special relevance the relationship Of communication between clinician and patient. It ends with a review of its application in the field of sport and the presentation of a case study (3 athletes and 1 player) in which hypnosis is used adjuvant with other techniques. In all cases optimal results are achieved (AU)

Na história do desenvolvimento de procedimentos médicos e psicológicos, a hipnose tem desempenhado um papel proeminente, sendo uma intervenção clínica valiosa no tratamento de uma grande variedade de problemas. Apesar disso, não foi poupado controvérsias e mitos sobre sua natureza. No presente trabalho, analisamos o desenvolvimento histórico da hipnose e os modelos explicativos mais relevantes, daqueles que a consideram um estado de consciência alterado para aqueles que defendem esses fenômenos hipnóticos podem ser explicados pelas mesmas variáveis que o comportamento e a experiência. não hipnótico. Também analisamos algumas das definições que surgiram de diferentes paradigmas, bem como a evidência empírica de sua eficácia, provando que, quando utilizado como coadjuvante de tratamentos médicos e psicológicos, aumenta a eficácia deles, sendo de relevância especial o relacionamento de comunicação estabelecida entre clínico e paciente. Ele termina com uma revisão de sua aplicação no campo do esporte e a apresentação de um estudo de caso (3 atletas e 1 jogador de futebol) em que a hipnose é usada em conjunto com outras técnicas. Em todos os casos, resultados óptimos são alcançados (AU)

Long-term neurodevelopmental outcome of children born to prospectively followed pregnancies of women with systemic lupus erythematosus and/or antiphospholipid syndrome.

Background Systemic lupus erythematosus (SLE) and antiphospholipid antibody syndrome (APS) are autoimmune diseases that affect women of childbearing age. Maternal IgG antiphospholipid antibodies (aPL) can cross the placenta during pregnancy and theoretically reach the fetal brain. Some studies showed an increased number of learning disabilities in these children. Objectives To evaluate the long-term neurodevelopmental outcome of 40 children (median age 7.4 years) born to mothers with SLE and/or APS carrying positive IgG aPL during the third trimester of pregnancy. Methods Children were checked for neurological physical exam and intellectual/cognitive functioning by the Wechsler scale for corrected age. We submitted to the mothers the Child Behavior CheckList (CBCL) and a homemade set of questions created by pediatric neurologists. Results In all children neurological physical exam and intelligence levels were found to be normal. A cognitive impairment or a discrepant cognitive profile was found in 3 (7%) and 11 (28%) children, respectively. Learning disabilities were diagnosed in 3 children (19% of school-age children), all born to mothers with triple aPL positivity. A history of epilepsy was shown in four children (10%). CONCLUSIONS: Children born to women with SLE and/or APS may need a long-term follow-up focusing on milestones of neurodevelopment in order to detect and correct any alteration as early as possible.

EULAR recommendations for women's health and the management of family planning, assisted reproduction, pregnancy and menopause in patients with systemic lupus erythematosus and/or antiphospholipid syndrome.

OBJECTIVES: Develop recommendations for women's health issues and family planning in systemic lupus erythematosus (SLE) and/or antiphospholipid syndrome (APS). METHODS: Systematic review of evidence followed by modified Delphi method to compile questions, elicit expert opinions and reach consensus. RESULTS: Family planning should be discussed as early as possible after diagnosis. Most women can have successful pregnancies and measures can be taken to reduce the risks of adverse maternal or fetal outcomes. Risk stratification includes disease activity, autoantibody profile, previous vascular and pregnancy morbidity, hypertension and the use of drugs (emphasis on benefits from hydroxychloroquine and antiplatelets/anticoagulants). Hormonal contraception and menopause replacement therapy can be used in patients with stable/inactive disease and low risk of thrombosis. Fertility preservation with gonadotropin-releasing hormone analogues should be considered prior to the use of alkylating agents. Assisted reproduction techniques can be safely used in patients with stable/inactive disease; patients with positive antiphospholipid antibodies/APS should receive anticoagulation and/or low-dose aspirin. Assessment of disease activity, renal function and serological markers is important for diagnosing disease flares and monitoring for obstetrical adverse outcomes. Fetal monitoring includes Doppler ultrasonography and fetal biometry, particularly in the third trimester, to screen for placental insufficiency and small for gestational age fetuses. Screening for gynaecological malignancies is similar to the general population, with increased vigilance for cervical premalignant lesions if exposed to immunosuppressive drugs. Human papillomavirus immunisation can be used in women with stable/inactive disease. CONCLUSIONS: Recommendations for women's health issues in SLE and/or APS were developed using an evidence-based approach followed by expert consensus.

Megacolon tóxico en una paciente con colitis seudomembranosa / Toxic megacolon in a patient with colitis pseudomembranous

La colitis seudomembranosa es una patología relacionada con el uso de antibióticos. En raras ocasiones, evoluciona a megacolon tóxico que podría requerir resolución quirúrgica. Comunicamos el caso de una mujer de 22 años, que recibió amoxicilina/ácido clavulánico unos días antes de la consulta. Presentó diarrea, fiebre y vómitos. Radiografía y tomografía computarizada de abdomen: distensión de colon derecho >6 cm. Toxina para Clostridium: positiva. Comienza con el tratamiento médico y requiere cirugía por megacolon tóxico. El megacolon tóxico es una complicación infrecuente de la colitis seudomembranosa. Es rara en pacientes jóvenes y sin comorbilidades. Se llega al diagnóstico mediante los criterios de Jalan. La tasa de mortalidad se aproxima al 70%. Se debe mantener alto nivel de alerta ante signos de toxicidad sistémica y la dilatación colónica es diagnóstica de la entidad. El uso indiscriminado de antibióticos constituye un serio factor de riesgo.(AU)

Pseudomembranous colitis is a condition associated with the use of antibiotics. On rare occasions, it evolves to toxic megacolon which may require surgical resolution. We report the case of a 22-year-old woman who received amoxicillin/clavulanic acid a few days before the consultation. She referred diarrhea, fever and vomiting. Radiography and computed tomography of abdomen: distension of the right colon >6 cm. Clostridium toxin: positive. Medical treatment is administered and surgery is needed for toxic megacolon. Toxic megacolon is an infrequent complication of pseudomembranous colitis. It is rare in young patients without comorbidities. The diagnosis is reached using the Jalan criteria. The mortality rate approaches 70%. A high level of alertness should be maintained for signs of systemic toxicity and colonic dilation is diagnostic of the entity. Indiscriminate use of antibiotics is a serious risk factor.(AU)

Mosquitoes (Diptera: Culicidae) From the Northwestern Brazilian Amazon: Padauari River.

The mosquito fauna (Culicidae) from remote northern areas of the State of Amazonas were sampled using Centers for Disease Control and Prevention, Shannon, Malaise, and Suspended traps, together with net sweeping and immature collections. One hundred and seven collections were performed in five localities along the Padauari River, State of Amazonas, Brazil, during June 2010. The 20,557 mosquitoes collected are distributed in 17 genera, representing 117 different species, of which four are new distributional records for the State of Amazonas. Furthermore, there are 10 morphospecies that may represent undescribed new taxa, eight of which are also new records for the State of Amazonas. The genus Culex had the highest number of species and the largest number of individuals. Aedes and Psorophora both represented 10% of the total sample and had the second highest number of species and individuals. The most abundant species was Culex (Melanoconion) gnomatos Sallum, Hutchings & Ferreira, followed by Aedes (Ochlerotatus) fulvus (Wiedemann), Culex (Melanoconion) vaxus Dyar, Culex (Melanoconion) portesi Senevet & Abonnenc, Psorophora (Janthinosoma) amazonica Cerqueira, Culex (Culex) mollis Dyar & Knab, Psorophora (Janthinosoma) albigenu (Peryassú), and Culex (Melanoconion) theobaldi Lutz. The epidemiological and ecological implications of mosquito species found are discussed and are compared with other mosquito inventories from the Amazon region. The results represent the most diverse standardized inventory of mosquitoes along the Padauari River, with the identification of 127 species-level taxa distributed in five localities, within two municipalities (Barcelos and Santa Isabel do Rio Negro).

One-Dimensional Liquid

We compute the zero-temperature dynamical structure factor of one-dimensional liquid ^{4}He by means of state-of-the-art quantum Monte Carlo and analytic continuation techniques. By increasing the density, the dynamical structure factor reveals a transition from a highly compressible critical liquid to a quasisolid regime. In the low-energy limit, the dynamical structure factor can be described by the quantum hydrodynamic Luttinger-liquid theory, with a Luttinger parameter spanning all possible values by increasing the density. At higher energies, our approach provides quantitative results beyond the Luttinger-liquid theory. In particular, as the density increases, the interplay between dimensionality and interaction makes the dynamical structure factor manifest a pseudo-particle-hole continuum typical of fermionic systems. At the low-energy boundary of such a region and moderate densities, we find consistency, within statistical uncertainties, with predictions of a power-law structure by the recently developed nonlinear Luttinger-liquid theory. In the quasisolid regime, we observe a novel behavior at intermediate momenta, which can be described by new analytical relations that we derive for the hard-rods model.

Clinical, biochemical and molecular characterization of prosaposin deficiency.

Prosaposin (PSAP) deficiency is an ultra-rare, fatal infantile lysosomal storage disorder (LSD) caused by variants in the PSAP gene, with seven subjects reported so far. Here, we provide the clinical, biochemical and molecular characterization of two additional PSAP deficiency cases. Lysoplex, a targeted resequencing approach was utilized to identify the variant in the first patient, while quantification of plasma lysosphingolipids (lysoSLs), assessed by liquid chromatography mass spectrometry (LC-MS/MS) and brain magnetic resonance imaging (MRI), followed by Sanger sequencing allowed to attain diagnosis in the second case. Functional studies were carried out on patients' fibroblast lines to explore the functional impact of variants. The two patients were homozygous for two different truncating PSAP mutations (c.895G>T, p.Glu299*; c.834_835delGA, p.Glu278Aspfs*27). Both variants led to a complete lack of processed transcript. LC-MS/MS and brain MRI analyses consistently provided a distinctive profile in the two children. Quantification of specific plasma lysoSLs revealed elevated levels of globotriaosylsphingosine (LysoGb3) and glucosylsphingosine (GlSph), and accumulation of autophagosomes, due to a decreased autophagic flux, was observed. This report documents the successful use of plasma lysoSLs profiling in the PSAP deficiency diagnosis, as a reliable and informative tool to obtain a preliminary information in infantile cases with complex traits displaying severe neurological signs and visceral involvement.

Imaginary time density-density correlations for two-dimensional electron gases at high density.

We evaluate imaginary time density-density correlation functions for two-dimensional homogeneous electron gases of up to 42 particles in the continuum using the phaseless auxiliary field quantum Monte Carlo method. We use periodic boundary conditions and up to 300 plane waves as basis set elements. We show that such methodology, once equipped with suitable numerical stabilization techniques necessary to deal with exponentials, products, and inversions of large matrices, gives access to the calculation of imaginary time correlation functions for medium-sized systems. We discuss the numerical stabilization techniques and the computational complexity of the methodology and we present the limitations related to the size of the systems on a quantitative basis. We perform the inverse Laplace transform of the obtained density-density correlation functions, assessing the ability of the phaseless auxiliary field quantum Monte Carlo method to evaluate dynamical properties of medium-sized homogeneous fermion systems.

Survival prognostic factors of gastro-enteric-pancreatic neuroendocrine tumors after primary tumor resection in a single tertiary center: Comparison of gastro-enteric and pancreatic locations.

AIM: This study aimed to evaluated prognostic factors of patients with GEP-NETs after primary tumor resection comparing pancreatic and gastro-enteric locations. METHODS: Patients undergone surgery for primary GEP-NETs between 01/2000 and 03/2012 were considered. All specimens were reclassified according to the WHO 2010 scheme. RESULTS: A total of 83 patients were considered: 37 pancreatic NETs (pNET) and 46 gastroenteric NETs (GE-NET). The two groups were similar in terms of age, sex and tumors size. A higher rate of patients with pNETs had Ki67 score ≥3 (64.8% vs. 39%, p = 0.027) while the rates of Mitotic Index ≥2x10HPF (62% pNET vs. 50% GE-NET, p = 0.374) and diagnosis of neuroendocrine carcinoma NEC (16.2% pNET vs. 17.3% GE-NET, p = 0.100) were similar. The rates of distant metastases (GE-NETs 30.4% vs. p-NETs 29.7%, p = 0.944) and liver metastases (19.5% GE-NET vs. 27% pNET, p = 0.421) were comparable. Radical resection was achieved in a similar proportion in both groups [33 patients (89.1%) pNET vs. 36 (78.2%) GE-NET, p = 0.393]. After a median follow-up of 47.1 months overall 3, 5 and 10-years survival rates of whole patients were 88.1%, 81.2% and 76.7%. There was not difference on 5-years overall survival between pNET (81.4%) and GE-NET (81%, p = 0.901). At multivariate analysis age ≥70 [OR 4.177 (CI 95% 1.26-13.8), p = 0.019] and NEC [OR 5.932 (CI 95% 1.81-19.40), p < 0.001] were negative prognostic factors of survival. CONCLUSION: Overall survival of GEP-NET after resection of primary tumors seems to be correlated to patient's age and WHO 2010 staging system but not to primary tumor site.

Successful mobilization of PBSCs predicts favorable outcomes in multiple myeloma patients treated with novel agents and autologous transplantation.

Incorporation of novel agents into auto-SCT for patients with multiple myeloma has led to improvement in their outcomes. However, the effects of new drugs, either single or combined, on PBSC mobilization have not been fully evaluated, particularly in phase 3 clinical studies. We analyzed the impact of two novel agent-based induction treatments in patients enrolled in the GIMEMA MMY-3006 study comparing bortezomib, thalidomide and dexamethasone (VTD) versus thalidomide and dexamethasone (TD) in preparation for double auto-SCT. Results showed that a short-term induction therapy with VTD did not adversely affect CD34(+) cell yields as compared with TD (9.75 vs 10.76 × 10(6) CD34(+) cells/kg, P=0.220). For poor mobilizers (<4 × 10(6) CD34(+) cells/kg), 5-year rates of time to progression (TTP), progression-free survival (PFS) and overall survival (OS) were significantly shorter than for successful mobilizers (TTP:17 vs 48%, P<0.0001; PFS: 16 vs 46%, P<0.0001; OS: 50 vs 80%, P<0.0001). These differences were retained across patients randomized to the TD arm; conversely, no differences in outcomes were seen in patients treated with VTD, irrespective of the number of harvested CD34(+) cells. The number of collected PBSCs predicted better outcomes after auto-SCT and VTD overcame the negative impact of a poor stem cell mobilization.

Mitochondrial respiration and genomic analysis provide insight into the influence of the symbiotic bacterium on host trypanosomatid oxygen consumption.

Certain trypanosomatids co-evolve with an endosymbiotic bacterium in a mutualistic relationship that is characterized by intense metabolic exchanges. Symbionts were able to respire for up to 4 h after isolation from Angomonas deanei. FCCP (carbonyl cyanide-4-(trifluoromethoxy)phenylhydrazone) similarly increased respiration in wild-type and aposymbiotic protozoa, though a higher maximal O2 consumption capacity was observed in the symbiont-containing cells. Rotenone, a complex I inhibitor, did not affect A. deanei respiration, whereas TTFA (thenoyltrifluoroacetone), a complex II activity inhibitor, completely blocked respiration in both strains. Antimycin A and cyanide, inhibitors of complexes III and IV, respectively, abolished O2 consumption, but the aposymbiotic protozoa were more sensitive to both compounds. Oligomycin did not affect cell respiration, whereas carboxyatractyloside (CAT), an inhibitor of the ADP-ATP translocator, slightly reduced O2 consumption. In the A. deanei genome, sequences encoding most proteins of the respiratory chain are present. The symbiont genome lost part of the electron transport system (ETS), but complex I, a cytochrome d oxidase, and FoF1-ATP synthase remain. In conclusion, this work suggests that the symbiont influences the mitochondrial respiration of the host protozoan.

Mosquitoes in Bromeliads at Ground Level of the Brazilian Atlantic Forest: the Relationship Between Mosquito Fauna, Water Volume, and Plant Type.

Water accumulating in the axils of bromeliads provides habitat for numerous invertebrates, frequently among them, immature mosquitoes. To evaluate mosquito richness in bromeliads and the relationship between mosquito presence and biotic and abiotic variables, we performed a study in the Parque Nacional do Itatiaia, Rio de Janeiro, Brazil. Mosquitoes of genus Culex were the most abundant and varied in species richness, among which nine belonged to subgenus Microculex, Culex (Microculex) neglectus Lutz and Culex ocellatus Theobald being the most frequent species. Sabethines of genera Wyeomyia and Runchomyia were found in low numbers. Wyeomyia (Spilonympha) airosai Lane and Cerqueira and Wyeomyia (Spilonympha) finlayi Lane and Cerqueira tend to proliferate in bromeliads of the genus Bilbergia which hold less than 50 ml of water and grow either alone or with Runchomyia frontosa (Theobald). The larger the volume of water, the greater the chance of finding Culex, Anopheles as well as Wyeomyia (Phoniomyia) species, which seems to be the more generalist as it is present in different bromeliad types with a large range of plant water holding capacities.

Children born to SLE and APS mothers.

BACKGROUND: Systemic lupus erythematosus (SLE) and antiphospholipid antibody syndrome (APS) are autoimmune diseases that affect women of childbearing age. Pregnancies in these patients carry several complications such as prematurity. Maternal IgG antiphospholipid antibodies (aPL) can cross the placenta but they don't generally cause any neonatal thrombotic event. Because of the incompleteness of the fetal blood-brain barrier, aPL could theoretically reach the fetal brain. Whether this can have an effect on brain development is still under investigation. Some studies performed in children of patients with SLE and/or APS showed an increased number of learning disabilities without impairment in intelligence level. OBJECTIVES: The objectives of this article are to evaluate the neurodevelopment outcome in 30 children (median age 9 years) born to mothers with SLE and/or APS with IgG anti-beta2-glycoprotein I during the third trimester of pregnancy and found positive for the same antibodies at birth. METHODS: A neurological physical exam was performed in all children. We submitted some questionnaires to the mothers: the Child Behavior CheckList (CBCL) and a homemade set of questions obtained by a team composed of rheumatologists and pediatric neurologists. Intellectual functioning was determined by the Wechsler scale for corrected age. RESULTS: In all children neurological physical exam and intelligence levels were found to be normal but mild behavior disorders and history of neurological manifestations were shown in three children. CONCLUSIONS: Offspring of patients with SLE and/or APS are generally healthy. We and others observed the occurrence of minor neurological disorders that might be related to maternal disease or to prematurity. The limited number of the available data on this sensitive issue supports the need for further studies.