Diagnosis of amyopathic dermatomyositis after two intrauterine fetal deaths.

Chronic histiocytic intervillositis (CHIV) is an uncommon condition, characterized by an infiltrate of mononuclear cells of maternal origin in the intervillous space that has been related to placenta insufficiency and poor perinatal outcomes. The aetiology is unclear, although maternal immunological aggression toward fetal tissues has been proposed. Dermatomyositis (DM) is a multisystem autoimmune inflammatory myopathy. Different autoantibodies have been associated with particular clinical phenotypes; presence of anti-melanoma differentiation-associated gen 5 (MDA5) antibody has been associated with rapidly progressive interstitial lung disease and severe skin lesions, none of which the woman had. Described here is a case of a woman diagnosed with amyopathic DM with positive anti-MDA5 antibodies after two intrauterine fetal deaths. Pathological examination of the placenta in both pregnancies showed CHIV. The presence of a potential relationship between both processes is discussed.

Safety profile of treatments administered in COVID 19 infection in pregnant women.

SARS-CoV-2 infection has unexpectedly arrived in our society. In pregnant women, the situation has been similar to general population. Some drugs have been used empirically, and obstetricians have to consider whether the same treatments used in the general population were valid for pregnant women with severe disease, according to their safety profile for both the mother and the fetus. There has been a wide experience with the use of hydroxychloroquine and lopinavir/ritonavir in pregnant women. Tocilizumab and interferon beta could be used if benefits exceed risks. There is no experience using remdesivir in pregnancy.

La infección por SARS-CoV-2 ha llegado a nuestra sociedad de forma inesperada. En las mujeres embarazadas, la situación ha sido similar a la de la población general. Algunos fármacos se han utilizado de forma empírica y los obstetras deben considerar si los mismos tratamientos utilizados en la población general son válidos para mujeres embarazadas con enfermedad grave, de acuerdo con su perfil de seguridad tanto para la madre como para el feto. Existe una amplia experiencia con el uso de hidroxicloroquina y lopinavir/ritonavir en mujeres embarazadas. Se podrían usar tocilizumab e interferón beta si los beneficios superan los riesgos. No hay experiencia en el embarazo con remdesivir.

First trimester combined screening test for aneuploidies in anti-Ro carriers pregnant women.

INTRODUCTION: Anti-Ro/SSA and anti-La/SSB antibodies are associated with neonatal lupus and congenital heart block. Controversial results regarding perinatal outcomes are found and less is known about aneuploidy screening. The hypothesis is that the presence of anti-Ro and/or anti-La antibodies influences the levels of PAPP-A and ß-HCG, thus interfering in the calculation of risk of aneuploidies. MATERIAL AND METHODS: Fifty-five anti-Ro/SSA positive pregnant women were included. The demographic characteristics and laboratory variables were studied. Data concerning chromosomopaties screening were also recorded. RESULTS: PAPP-A and ß-HCG levels were calculated (as well as NT and CRL) and compared with a healthy cohort of 12971 pregnant women. PAPP-A levels in mg/mL were lower significatively. In anti-La/SS-B cohort, significant differences were found in PAPP-A in mg/mL and in MoM. Combined risks for Down syndrome (DS) in both groups were higher but the differences were due to age. CONCLUSIONS: Serum levels of PAPP-A were significative lower but not confirmed when adjusted to MoM. This will have to be confirmed in studies with a larger number of patients and to check whether there is an impact in the calculation of DS risk or not. They could represent a group of pregnant women with significantly a higher risk of adverse perinatal outcome. Key Points • Pregnant patients with anti-Ro/SS-A ant/or anti-La/SS-B antibodies have low PAPP-A levels compared with pregnant women without antibodies. • PAPP-A levels are used in obstetrics for aneuploidies screening in the first trimester, so in these patients, there could be more false positive screening. • In these findings are verified in trials with a larger number of patients, a correction variable would have to be applied for the aneuploidies screening calculation. • Also, low PAPP-A levels are correlated with poor placentation, that is to say, more risk of miscarriages, small fetus for gestational age, and preeclampsia. This is another topic to take into consideration in this population.

Management of Psoriasis During Preconception, Pregnancy, Postpartum, and Breastfeeding: A Consensus Statement. / Consenso sobre las actuaciones a seguir durante la edad fértil, el embarazo, el posparto y la lactancia en pacientes con psoriasis.

OBJECTIVE: To develop evidence- and experience-based recommendations for the management of psoriasis during preconception, pregnancy, postpartum, and breastfeeding. METHODS: The nominal group technique and the Delphi method were used. Fifteen experts (12 dermatologists, 2 of whom were appointed coordinators; 1 rheumatologist; and 2 gynecologists) were selected to form an expert panel. Following a systematic review of the literature on fertility, pregnancy, postpartum, and breastfeeding in women with psoriasis, the coordinators drew up a series of preliminary recommendations for discussion by the panel at a nominal group meeting. The experts defined the scope, sections, and intended users of the statement and prepared a final list of recommendations. Consensus was obtained using a Delphi process in which an additional 51 dermatologists rated their level of agreement with each recommendation on a scale of 1 (total disagreement) to 10 (total agreement). Consensus was defined by a score of 7 or higher assigned by at least 70% of participants. Level of evidence and strength of recommendation were reported using the Oxford Center for Evidence-Based Medicine categories. The final statement was approved by the expert panel. RESULTS: The resulting consensus statement includes 23 recommendations on preconception (fertility and contraception), pregnancy (planning, pharmacological management, and follow-up), and breastfeeding (management and follow-up). Consensus was achieved for all recommendations generated except one. CONCLUSIONS: These recommendations for the better management of psoriasis in women of childbearing age could improve outcomes and prognosis.

Tranexamic acid plus bemiparin sodium as long-term prophylaxis in a patient with FXII-HAE during pregnancy: a case report

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Hypothalamic mTOR: the rookie energy sensor.

Optimal cellular function and therefore organism's survival is determined by the sensitive and accurate convergence of energy and nutrient abundance to cell growth and division. Among other factors, this integration is coupled by the target of rapamycin (TOR) pathway, which is able to sense nutrient, energy and oxygen availability and also growth factor signaling. Indeed, TOR signaling regulates cell energy homeostasis by coordinating anabolic and catabolic processes for survival. TOR, named mTOR in mammals, is a conserved serine/threonine kinase that exists in two different complexes, mTORC1 and mTORC2. Recently, studies are suggesting that alterations of those complexes promote disease and disrupted phenotypes, such as aging, obesity and related disorders and even cancer. The evidences linking mTOR to energy and metabolic homeostasis included the following. At central level mTOR regulates food intake and body weight being involved in the mechanism by which signals such as leptin and ghrelin exert its effects. At peripheral level it influences adipogenesis and lipogenesis in different tissues including the liver. Noteworthy chronic nutritional activation of mTOR signaling has been implicated in the development of beta cell mass expansion and on insulin resistance. Understanding of mTOR and other molecular switches, such as AMP-activated protein kinase (AMPK), as well as their interrelationship is crucial to know how organisms maintain optimal homeostasis. This review summarizes the role of hypothalamic TOR complex in cellular energy sensing, evidenced in the last years, focusing on the metabolic pathways where it is involved and the importance of this metabolic sensor in cellular and whole body energy management. Understanding the exact role of hypothalamic mTOR may provide new cues for therapeutic intervention in diseases.

Mioquimias palpebrales unilaterales como forma de presentación de una esclerosis múltiple / Unilateral eyelid myokymia as a form of presentation of multiple sclerosis

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Influenza-like illness in pregnant women during summertime: clinical, epidemiological and microbiological features.

It is not known whether influenza-like illnesses (ILI) in pregnant women caused by influenza virus, specifically, those caused by the 2009 Influenza A H1N1 virus (nH1N1), can be clinically distinguished from those caused by other agents. From 1st July 2009 until 20th September 2009, an observational study including all pregnant women presenting at Hospital Universitario La Paz with an ILI was carried out. A specific reverse-transcriptase polymerase chain reaction (RT-PCR) for nH1N1 in nasopharyngeal swabs was prospectively carried out in all patients. Retrospectively, samples were analysed for multiple respiratory virus panel (RT-PCR microarray). Clinical, demographical and other microbiological variables were evaluated as well. A total of 45 pregnant women with ILI were admitted. Of these, 14 (31.1%) women had nH1N1 infection and 11 with a non-influenza ILI (35.48%) were positive for other viruses (five rhinovirus, four parainfluenza virus, one bocavirus and one adenovirus). In 20 patients, no aetiologic agent was identified. The clinical course of nH1N1 was mild, without deaths or severe complications. No significant differences were found when comparing the clinical presentation and course of patients with and without nH1N1 infection. Six women with nH1N1 infection received oseltamivir. Influenza and non-influenza ILI were clinically indistinguishable among pregnant women. Many ILI in pregnant women remain undiagnosed, despite undergoing an RT-PCR microarray for several respiratory viruses.

The Expression of Petunia Strigolactone Pathway Genes is Altered as Part of the Endogenous Developmental Program.

Analysis of mutants with increased branching has revealed the strigolactone synthesis/perception pathway which regulates branching in plants. However, whether variation in this well conserved developmental signaling system contributes to the unique plant architectures of different species is yet to be determined. We examined petunia orthologs of the ArabidopsisMAX1 and MAX2 genes to characterize their role in petunia architecture. A single ortholog of MAX1, PhMAX1 which encodes a cytochrome P450, was identified and was able to complement the max1 mutant of Arabidopsis. Petunia has two copies of the MAX2 gene, PhMAX2A and PhMAX2B which encode F-Box proteins. Differences in the transcript levels of these two MAX2-like genes suggest diverging functions. Unlike PhMAX2B, PhMAX2A mRNA levels change in leaves of differing age/position on the plant. Nonetheless, this gene functionally complements the Arabidopsismax2 mutant indicating that the biochemical activity of the PhMAX2A protein is not significantly different from MAX2. The expression of the petunia strigolactone pathway genes (PhCCD7, PhCCD8, PhMAX1, PhMAX2A, and PhMAX2B) was then further investigated throughout the development of wild-type petunia plants. Three of these genes showed changes in mRNA levels over a development series. Alterations to the expression patterns of these genes may influence the branching growth habit of plants by changing strigolactone production and/or sensitivity. These changes could allow both subtle and dramatic changes to branching within and between species.

Petunia hybrida CAROTENOID CLEAVAGE DIOXYGENASE7 is involved in the production of negative and positive branching signals in petunia.

One of the key factors that defines plant form is the regulation of when and where branches develop. The diversity of form observed in nature results, in part, from variation in the regulation of branching between species. Two CAROTENOID CLEAVAGE DIOXYGENASE (CCD) genes, CCD7 and CCD8, are required for the production of a branch-suppressing plant hormone. Here, we report that the decreased apical dominance3 (dad3) mutant of petunia (Petunia hybrida) results from the mutation of the PhCCD7 gene and has a less severe branching phenotype than mutation of PhCCD8 (dad1). An analysis of the expression of this gene in wild-type, mutant, and grafted petunia suggests that in petunia, CCD7 and CCD8 are coordinately regulated. In contrast to observations in Arabidopsis (Arabidopsis thaliana), ccd7ccd8 double mutants in petunia show an additive phenotype. An analysis using dad3 or dad1 mutant scions grafted to wild-type rootstocks showed that when these plants produce adventitious mutant roots, branching is increased above that seen in plants where the mutant roots are removed. The results presented here indicate that mutation of either CCD7 or CCD8 in petunia results in both the loss of an inhibitor of branching and an increase in a promoter of branching.

Site-dependent differences in both prelamin A and adipogenic genes in subcutaneous adipose tissue of patients with type 2 familial partial lipodystrophy.

BACKGROUND: Type 2 familial partial lipodystrophy (FPLD2) is characterised by loss of fat in the limbs and buttocks and results from mutations in the LMNA gene. AIM: To evaluate the role of several genes involved in adipogenesis in order to better understand the underlying mechanisms of regional loss of subcutaneous adipose tissue (scAT) in patients with FPLD2. METHODS: In total, 7 patients with FPLD2 and 10 healthy control participants were studied. A minimal model was used to calculate the insulin sensitivity (IS). scAT was obtained from abdomen and thigh by biopsy. Relative gene expression was quantified by real-time reverse transcription PCR in a thermal cycler. Prelamin A western blot analysis was carried out on scAT and prelamin A nuclear localisation was determined using immunofluorescence. Adipocyte nuclei were examined by electron microscopy. RESULTS: Patients with FPLD2 were found to have significantly lower IS. The expression of LMNA was similar in both groups. The expression of PPARG2, RB1, CCND3 and LPL in thigh but not in abdomen scAT was significantly reduced (67%, 25%, 38% and 66% respectively) in patients with FPLD2. Significantly higher levels of prelamin A were found in peripheral scAT of patients with FPLD2. Defects in the peripheral heterochromatin and a nuclear fibrous dense lamina were present in the adipocytes of patients with FPLD2. CONCLUSIONS: In FPLD2 participants, prelamin A accumulation in peripheral scAT is associated with a reduced expression of several genes involved in adipogenesis, which could perturb the balance between proliferation and differentiation in adipocytes, leading to less efficient tissue regeneration.