The natural history of pregnancies with prenatal diagnosis of Trisomy 18 or Trisomy 13: Retrospective cases of a 23-year experience in a Brazilian public hospital.

Trisomy 18 (T18) and trisomy 13 (T13) are polymalformative syndromes associated with a high rate of spontaneous abortions, intrauterine death, and short postnatal life. This study describes the overall outcome in a country where the therapeutic interruption of pregnancy is not available. The medical records of women with prenatal diagnosis of full trisomy of T13 or T18 between October 1994 and October 2017 were analyzed in order to describe their natural outcomes. Thirteen cases of T13 and 29 cases of T18 were included. The miscarriage rate was 9% for T18 and no cases for T13. Intrauterine fetal death occurred in 46% and 52% of cases for T13 and T18, respectively. The rate of live births for T13 was 54%, and the median survival was one day (95% CI -33.55 - 90.40) and 71% died in the first 24 hours of life. The rate of live births for T18 was 37% and the median survival was two days (95% CI -1.89 - 13.17); 90% of the affected babies died within first week of life. For the affected babies reaching the first year of life and for those who lived longer, multiple invasive and expensive procedures were required, without success in prolonging life beyond 180 days. This large series provides information for professionals and women regarding the natural histories of T13 and T18. Results of this study are consistent with those referenced in the literature, emphasizing the need of structured protocols and guidelines aiming early T13 and T18 diagnosis, prenatal care, gestation/parents follow-up, and counseling processes. For those couples with earlier diagnosis, a better follow-up and counseling during the prenatal care lead to the option for a support or palliative management of the newborn. Finally, when the counseling process is appropriate, it becomes easier to take decisions respecting the parent's autonomy and to look for better outcomes for both, the mother and the fetus.

Understanding the conformational changes and molecular structure of furoyl thioureas upon substitution.

1-Acyl thioureas [R1C(O)NHC(S)NR2R3] are shown to display conformational flexibility depending on the degree of substitution at the nitrogen atom. The conformational landscape and structural features for two closely related thioureas having R1=2-furoyl have been studied. The un-substituted 2-furoyl thiourea (I) and its dimethyl analogue, i.e. 1-(2-furoyl)-3,3-dimethyl thiourea (II), have been synthesized and fully characterized by spectroscopic (FT-IR, 1H and 13C NMR) and elemental analysis. According to single crystal X-ray diffraction analysis, compounds I and II crystallize in the monoclinic space group P21/c. In the compound I, the trans-cis geometry of the almost planar thiourea unit is stabilized by intramolecular NH⋯OC hydrogen bond between the H atom of the cis thioamide and the carbonyl O atom. In compound II, however, the acyl thiourea group is non-planar, in good agreement with the potential energy curve computed at the B3LYP/6-31+G(d,p) level of approximation. Centrosymmetric dimers generated by intermolecular NH⋯SC hydrogen bond forming R22(8) motif are present in the crystals. Intermolecular interactions have been rationalized in terms of topological partitions of the electron distributions and Hirshfeld surface analysis, which showed the occurrence of S⋯H, O⋯H and H⋯H contacts that display an important role to crystal packing stabilization of both thiourea derivatives.

Hipertensión pulmonar asociada a embarazo en paciente con lupus eritematoso sistémico / Pulmonary hypertension associated to pregnancy in a patient with systemic lupus erythematosus

La Hipertensión pulmonar (HAP) es el incremento anormal en la presión en el interior de la arteria pulmonar y suele considerarse como manifestación de enfermedad avanzada. La HAP es a su vez la causa más frecuente de cor pulmonale, cardiopatía pulmonar que denota ventriculomegalia derecha. El embarazo debe ser estrictamente vigilado en pacientes con HAP y el mismo agrava las manifestaciones del Lupus Eritematoso Sistémico (LES), importante enfermedad autoinmune. Se buscó evaluar las complicaciones sistémicas de la HAP en una paciente de 26 años, embarazada, asociada a otra enfermedad que incrementa la comorbilidad como lo es el LES, diagnosticado en año 2001, y la posibilidad de una evolución de la enfermedad hacia cor pulmonale. La paciente, con un embarazo de 23,6 semanas (IIG), ingresó al centro con HAP de 95 mmHg. Su primer embarazo fue pretérmino y mal controlado, sin complicaciones en periparto y puerperio. En el presente embarazo fue monitoreada con ECG, donde se evidencian signos de sobrecarga y crecimiento del ventrículo derecho, rayos X de tórax con un aumento del tronco de la arteria pulmonar y ecocardiograma transtorácico que indicó dilatación severa de aurícula y ventrículo derecho, insuficiencia moderada de válvula pulmonar y regurgitación tricuspídea severa. Se monitoreó el embarazo con ecosonograma obstétrico. Con control, la evolución de la paciente fue satisfactoria, aumentó de peso y recobró fuerza muscular. Es de importancia monitorear estas patologías (pocos trabajos publicados), más aún si se encuentran asociadas, pues el riesgo materno-fetal de mortalidad es hasta 56%.

Pulmonary Hypertension (PH) consists of the abnormal increase of the pulmonary artery's internal pressure and is often considered to be a manifestation of advanced disease. PH is the primary cause of cor pulmonale, pulmonary cardiopathy which denotes right ventriculomegaly. Pregnancy must be strictly observed in patients with pulmonary hypertension and it, as well, aggravates Systemic Lupus Erythematosus (SLE), an important autoimmune disease. Our main objective was to evaluate systemic complications of pulmonary hypertension in a 26 year-old, pregnantpatient, associated with another disease that increases comorbidity such as SLE, diagnosed in 2001, and its possibility of evolving to a cor pulmonale. The patient, with a 23.6-week pregnancy (IIC), was admitted with a 95 mmHg pulmonary hypertension. Her first pregnancy was preterm and uncontrolled, without complications on peripartum and puerperium. We controlled the patient with an EKG, where it was evidenced signs of overload and growth of the right ventricle, Chest X-rays with an increase in the diameter of the pulmonary artery's trunk and transthoracic echocardiogram that indicatedseverelydilatedrightatriumandright ventricle, moderated pulmonary valve insufficiency and severe tricuspid regurgitation. We clinically monitored her pregnancy with an obstetric sonography. Due to the adequate control, the patient's evolution was satisfactory. She increased in weight and recovered muscle strength. It is definitely important to monitor these diseases (few articles published), especially if they are associated, due to the fact that the risk of maternal and fetal mortality is extremely high, leading up to a 56% rate

[Prevalence of congenital abnormalities identified in fetuses with 13, 18 and 21 chromosomal trisomy]. / Prevalência das malformações congênitas identificadas em fetos com trissomia dos cromossomos 13, 18 e 21.

PURPOSE: To describe the prevalence of malformations found in fetuses with trisomy of chromosomes 13, 18 and 21 by identifying the most frequent within each condition. METHODS: A retrospective cross-sectional study with the analysis of trisomy cases of chromosomes 13, 18 and 21 diagnosed through fetal karyotype obtained by amniocentesis/cordocentesis, between October 1994 and May 2014, at a Teaching Hospital in Brazil Southern Region. Malformations identified through morphological ultrasonography were described and, subsequently, confirmed in newborn examinations and/or fetal autopsy. The results were analyzed using Fisher's test and analysis of variance (ANOVA), with a 5% level of significance (p=0.05). RESULTS: Sixty-nine cases of trisomy were diagnosed among 840 exams; nine were excluded due to outcome outside Hospital de Clínicas de Porto Alegre or incomplete records, remaining 60 cases (nine cases of chromosome 13 trisomy, 26 of chromosome 18, and 25 of chromosome 21). In all three groups, heart disease occurred in most cases; the ventricular septal defect was more prevalent and occurred in 66.7% of the trisomy 13 group. Gastrointestinal abnormalities were more prevalent in the trisomy 18 group, especially omphalocele (38.5%; p<0.01). Genitourinary anomalies were more significantly frequent in the trisomy 13 group (pyelectasis, 55.6% - p<0.01; ambiguous genitalia, 33.3% - p=0.01). Central nervous system defects were identified in all cases of trisomy 13. Facial cracks were significantly more prevalent among fetuses with trisomy 13 (66.7%; p<0.01). Hand and feet malformations significantly differed among the trisomy groups. Hand defects occurred in 50% of trisomy 18 cases, and in 44.4% of all trisomy 13 cases (p<0.01); congenital clubfoot was more common in the trisomy 18 group, being detected in 46.2% of fetuses (p<0.01). The abnormalities were found in 50.9, 27.3 and 21.7% of trisomy 18, 13 and 21 cases respectively. CONCLUSION: Many fetal malformations identified at ultrasound are suggestive of trisomy and represent an important tool for etiologic diagnosis and prenatal and pre-conception genetic counseling.

Prevalência das malformações congênitas identificadas em fetos com trissomia dos cromossomos 13, 18 e 21 / Prevalence of congenital abnormalities identified in fetuses with 13, 18 and 21 chromosomal trisomy

OBJETIVO: Descrever a prevalência das malformações encontradas nos fetos com trissomia dos cromossomos 13, 18 e 21, identificando as mais frequentes em cada condição. MÉTODOS: Estudo transversal retrospectivo, com análise dos casos de trissomias dos cromossomos 13, 18 e 21 que foram diagnosticados pelo cariótipo fetal obtido por amniocentese/cordocentese, entre outubro de 1994 e maio de 2014, em um Hospital de Ensino da região Sul do Brasil. Foram descritas as malformações identificadas no exame ultrassonográfico morfológico e, posteriormente, confirmadas em exames do recém-nascido e/ou por necropsia fetal. Os resultados foram analisados por meio do teste de Fisher e da análise de variância (ANOVA). O nível de significância empregado foi 5% (p=0,05). RESULTADOS: Em 840 exames realizados, foram diagnosticados 69 casos de trissomias; nove deles foram excluídos por desfecho ocorrido fora do Hospital de Clínicas de Porto Alegre ou prontuário incompleto, restando 60 casos (nove de trissomia do cromossomo 13, 26 do cromossomo 18 e 25 do cromossomo 21). As cardiopatias ocorreram, na maioria dos casos, nos três grupos; a comunicação interventricular foi mais prevalente, em 66,7% do grupo da trissomia 13. As anomalias gastrintestinais aconteceram mais no grupo da trissomia 18, principalmente a onfalocele (38,5%; p<0,01). As anomalias geniturinárias foram significativamente mais frequentes no grupo da trissomia 13 (pielectasia com 55,6% - p<0,01; genitália ambígua com 33,3% - p=0,01). Defeitos do sistema nervoso central foram identificados em todos os casos de trissomia 13. Fendas faciais foram mais prevalentes dentre os fetos com trissomia 13 (66,7%; p<0,01). Malformações nas mãos e nos pés tiveram diferenças estatísticas entre os grupos de trissomia. Os defeitos nas mãos ocorreram em 50% dos casos de trissomia 18 e em 44,4% dos casos de 13 (p<0,01); pé torto congênito foi mais comum no grupo da trissomia 18, descrito em 46,2% dos ...

PURPOSE: To describe the prevalence of malformations found in fetuses with trisomy of chromosomes 13, 18 and 21 by identifying the most frequent within each condition. METHODS: A retrospective cross-sectional study with the analysis of trisomy cases of chromosomes 13, 18 and 21 diagnosed through fetal karyotype obtained by amniocentesis/cordocentesis, between October 1994 and May 2014, at a Teaching Hospital in Brazil Southern Region. Malformations identified through morphological ultrasonography were described and, subsequently, confirmed in newborn examinations and/or fetal autopsy. The results were analyzed using Fisher's test and analysis of variance (ANOVA), with a 5% level of significance (p=0.05). RESULTS: Sixty-nine cases of trisomy were diagnosed among 840 exams; nine were excluded due to outcome outside Hospital de Clínicas de Porto Alegre or incomplete records, remaining 60 cases (nine cases of chromosome 13 trisomy, 26 of chromosome 18, and 25 of chromosome 21). In all three groups, heart disease occurred in most cases; the ventricular septal defect was more prevalent and occurred in 66.7% of the trisomy 13 group. Gastrointestinal abnormalities were more prevalent in the trisomy 18 group, especially omphalocele (38.5%; p<0.01). Genitourinary anomalies were more significantly frequent in the trisomy 13 group (pyelectasis, 55.6% - p<0.01; ambiguous genitalia, 33.3% - p=0.01). Central nervous system defects were identified in all cases of trisomy 13. Facial cracks were significantly more prevalent among fetuses with trisomy 13 (66.7%; p<0.01). Hand and feet malformations significantly differed among the trisomy groups. Hand defects occurred in 50% of trisomy 18 cases, and in 44.4% of all trisomy 13 cases (p<0.01); congenital clubfoot was more common in the trisomy 18 group, being detected in 46.2% of fetuses (p<0.01). The abnormalities were found in 50.9, 27.3 and 21.7% of trisomy 18, 13 and 21 cases respectively. ...

Resultados materno perinatales en la consulta de alto riesgo, SES Hospital de Caldas 2009-2011 / Resultados maternos perinatal em consulta alto risco, SES Hospital de Caldas 2009-2011 / Maternal and perinatal rresults in high risk consultation at SES Hospital de Caldas 2009-2011

Objetivo: Describir el resultado materno perinatal de las usuarias de la consulta de Alto Riesgo Obstétrico, SES Hospital de Caldas, atendidas desde septiembre 1 de 2009 hasta el 31 de agosto de 2011; estableciendo un comparativo con los resultados perinatales de las pacientes no consideradas de riesgo, dadas de alta de la consulta. Materiales y Métodos: Estudio de tipo prospectivo, descriptivo. Para la recolección de la información se consultaron historias clínicas hospitalarias, obteniendo información telefónica de aquellas pacientes que no presentaron su parto en la ciudad. Resultados: Se analizan 108 pacientes de la consulta, de las cuales 31 (28,18%) no continuaron en la consulta, por descartarse condiciones de riesgo. De las 77 embarazadas de riesgo, la edad promedio fue 29,1±7,8 años, con frecuencias de embarazo en adolescentes del 13,15%, y primigestación tardía del 28,94%, el 31,6% eran nulíparas, y el 23,4% tenían antecedente de aborto previo. Los antecedentes patológicos más significativos fueron: hipotiroidismo, hipertensión arterial crónica, epilepsia, y preeclampsia-eclampsia. Los motivos de remisión más frecuentes fueron: cesárea previa, edad materna avanzada, sospecha de restricción del crecimiento fetal. No se encontraron diferencias en las pacientes de bajo y alto riesgo, con respecto a edad, gravidez, escolaridad o procedencia; observándose mayores frecuencias de bajo peso al nacer, macrosomía, prematurez, parto por cesárea, ingreso a UCI neonatal y muerte perinatal, en las de alto riesgo. Conclusiones: Deben estandarizarse criterios de remisión a la consulta de Alto Riesgo Obstétrico ya que en el 38,3% de las pacientes la evaluación inicial los descartó...

cis-Bis[N-(2-furoyl)-N',N'-diphenyl-thio-ureato-κO,S]nickel(II).

In the title compound, [Ni(C(18)H(13)N(2)O(2)S)(2)], the Ni(II) atom is coordinated by the S and O atoms of two N-furoyl-N',N'-diphenyl-thio-ureate ligands in a slightly distorted square-planar coordination geometry. The two O and two S atoms are cis to each other.

1-Furoyl-3-methyl-3-phenyl-thio-urea.

The title compound, C(13)H(12)N(2)O(2)S, crystallizes with two independent mol-ecules in the asymmetric unit. The two mol-ecules differ in the conformation of the thio-carbonyl and carbonyl groups, and show the typical geometric parameters of substituted thio-urea derivatives. The crystal structure is mainly stabilized by inter-molecular N-H⋯O hydrogen bonding.

1-(o-Tol-yl)thio-urea.

In the title compound, C(8)H(10)N(2)S, the o-tolyl group and the thio-urea core are planar. The mean planes of the two groups are almost perpendicular [82.19 (8)°]. The thio-urea group is in the thio-amide form, in which resonance is present. In the crystal structure, mol-ecules are linked by inter-molecular N-H⋯S hydrogen bonds, forming two infinite chains parallel to the (110) and (10) planes.

Tris(N-benzoyl-N',N'-diphenyl-thio-ureato-κO,S)cobalt(III).

In the title compound, [Co(C(20)H(15)N(2)OS)(3)], the Co(III) atom is coordinated by the S and O atoms of three N-benzoyl-N',N'-diphenyl-thio-urea ligands in a slightly distorted octa-hedral geometry. The O and S atoms are in cis positions, while the positions between the O and S atoms are trans.

1-Benzyl-3-(2-furo-yl)thio-urea.

In the title compound, C(13)H(12)N(2)O(2)S, the dihedral angle between the two aromatic ring planes is 87.52 (12)°. The mol-ecule shows an intra-molecular N-H⋯O hydrogen bond. The crystal structure is stabilized by inter-molecular N-H⋯S and C-H⋯O hydrogen bonding.

Tris[N-(2-furoyl)-N,N'-diphenyl-thio-ureato-κO,S]cobalt(III).

In the title compound, [Co(C(18)H(13)N(2)O(2)S)(3)], the Co(III) atom is coordinated by the S and O atoms of three N-furoyl-N',N'-diphenyl-thio-urea ligands in a slightly distorted octa-hedral geometry. The three O atoms are arranged fac, as are the three S atoms.

cis-Bis(N-benzoyl-N',N'-dibenzyl-thio-ureato-κO,S)nickel(II).

In the title compound, [Ni(C(22)H(19)N(2)OS)(2)], the Ni(II) atom is coordinated by the S and O atoms of two N-benzoyl-N',N'-dibenzyl-thio-ureate ligands in a slightly distorted square-planar geometry. The two O atoms are cis, as are the two S atoms.

1-(3-Cyano-phen-yl)-3-(2-furo-yl)thio-urea.

The title compound, C(13)H(9)N(3)O(2)S, was synthesized from furoyl isothio-cyanate and 3-amino-benzonitrile in dry acetone. The thio-urea group is in the thio-amide form. The thio-urea fragment makes dihedral angles of 3.91 (16) and 37.83 (12)° with the ketofuran group and the benzene ring, respectively. The mol-ecular geometry is stabilized by N-H⋯O hydrogen bonds. In the crystal structure, centrosymmetrically related mol-ecules are linked by two inter-molecular N-H⋯S hydrogen bonds to form dimers.

gamma-Sodium gallate: a Rietveld refinement using X-ray powder diffraction.

Tetrahedrally coordinated oxides usually present polymorphism, but for NaGaO(2), only the beta polymorph has been reported. In this work, the synthesis and structural characterization of gamma-sodium gallate, gamma-NaGaO(2), are presented. The crystal structure belongs to the orthorhombic system, space group Pbca (No. 61), and has been characterized by a Rietveld refinement of the X-ray powder diffraction pattern. The structure is similar to those exhibited by the gamma phases of many tetrahedral oxides.