Rickettsioses in Latin America, Caribbean, Spain and Portugal

Data on genus and infectious by Rickettsia were retrospectively compiled from the critical review literature regarding all countries in Latin America, Caribbean islands, Portugal and Spain. We considered all Rickettsia records reported for human and/or animal hosts, and/or invertebrate hosts considered being the vector. In a few cases, when no direct detection of a given Rickettsia group or species was available for a given country, the serologic method was considered. A total of 13 Rickettsia species have been recorded in Latin America and the Caribbean. The species with the largest number of country confirmed records were Rickettsia felis (9 countries), R. prowazekii (7 countries), R. typhi (6 countries), R. rickettsii (6 countries), R. amblyommii (5 countries), and R. parkeri (4 countries). The rickettsial records for the Caribbean islands (West Indies) were grouped in only one geographical area. Both R. bellii, R. akari, and Candidatus ‘R. andeane’ have been recorded in only 2 countries each, whereas R. massiliae, R. rhipicephali, R.monteiroi, and R. africae have each been recorded in a single country (in this case, R. africae has been recorded in nine Caribbean Islands). For El Salvador, Honduras, and Nicaragua, no specific Rickettsia has been reported so far, but there have been serological evidence of human or/and animal infection. The following countries remain without any rickettsial records: Belize, Venezuela, Guyana, Surinam, and Paraguay. In addition, except for a few islands, many Caribbean islands remain without records. A total of 12 Rickettsia species have been reported in Spain and Portugal: R. conorii, R. helvetica, R. monacensis, R. felis, R. slovaca, R. raoultii, R. sibirica, R. aeschlimannii, R. rioja, R. massiliae, R. typhi, and R. prowazekii. Amongst these Rickettsia species reported in Spain and Portugal, only R. prowazekii, R. typhi, R. felis, and R. massiliae have also been reported in Latin America. This study summarizes the current state of art on the rickettsial distribution in Latin America, Caribbean, Spain and Portugal. The data obtained allow a better understanding on rickettsial epidemiology and distribution of vector ecology.Reportes del genero Rickettsia y sus asociadas infecciones fueron compilados en una revisión crítica retrospectiva de la literatura científica de los países de Latinoamérica, el Caribe, Portugal y España. Se consideraron todos los reportes para huéspedes humanos y/o animales y también para huéspedes invertebrados los cuales fueron considerados como vectores asociados con Rickettsia. En algunos casos, cuando no existió detección directa a un determinado grupo de rickettsias o especies no disponible en un país, se tuvo en cuenta la detección indirecta por serología. Un total de 13 especies de Rickettsia han sido reportadas en Latinoamérica y el Caribe. Las especies más encontradas en los países fueron: Rickettsia felis (9 países), R. prowazekii (7 países), R. typhi (6 países), R. rickettsii (6 países), R. amblyommii (5 países) y R. parkeri (4 países). Los datos de las islas del Caribe (antillas menores o Indias occidentales), fueron agrupados en una sola área geográfica como un solo país. Ambas R. bellii, R. akari y Candidatus ‘R. andeane’ fueron reportadas en solo 2 países, mientras que R. massiliae, R. rhipicephali, R.monteiroi, y R. africae fueron informadas en un solo país. En este caso R. africae fue reportada en 9 islas de las Antillas menores. Para El Salvador, Honduras y Nicaragua, hasta ahora no se han reportado especies de Rickettsia, pero si evidencia serológica de infección humana y/o animal. Sin reportes de infección por Rickettsia permanecen: Belice, Venezuela, Guayana, Surinam y Paraguay. Además, a excepción de algunas islas del Caribe, muchas de ellas permanecen sin reportes. Un total de 12 especies de Rickettsia han sido documentadas en España y Portugal: R. conorii, R. helvetica, R. monacensis, R. felis, R. slovaca, R. raoultii, R. sibirica, R. aeschlimannii, R. rioja, R. massiliae, R. typhi y R. prowazekii. Entre estas, solamente R. prowazekii, R. typhi, R. felis y R. massiliae han sido documentados en Latinoamérica, España y Portugal. Los datos de este estudio permiten entender mejor la epidemiología de las rickettsias en Latinoamérica, Caribe, España y Portugal, y la distribución de los vectores

International Teaching Programme

Nicolaides-Baraitser syndrome (NBS) is an infrequently described condition, thus far reported in five cases. In order to delineate the phenotype and its natural history in more detail, we gathered data on 18 hitherto unreported patients through a multi-center collaborative study, and follow-up data of the earlier reported patients. A detailed comparison of the 23 patients is provided. NBS is a distinct and recognizable entity, and probably has been underdiagnosed until now. Main clinical features are severe mental retardation with absent or limited speech, seizures, short stature, sparse hair, typical facial characteristics, brachydactyly, prominent finger joints and broad distal phalanges. Some of the features are progressive with time. The main differential diagnosis is Coffin-Siris syndrome. There is no important gender difference in occurrence and frequency of the syndrome, and all cases have been sporadic thus far. Microarray analysis performed in 14 of the patients gave normal results. Except for the progressive nature there are no clues to the cause. (C) 2009 Wiley-Liss, Inc

Applying the Maternal Near Miss Approach for the Evaluation of Quality of Obstetric Care: A Worked Example from a Multicenter Surveillance Study

Objective. To assess quality of care of women with severe maternal morbidity and to identify associated factors. Method. This is a national multicenter cross-sectional study performing surveillance for severe maternal morbidity, using the World Health Organization criteria. the expected number of maternal deaths was calculated with the maternal severity index (MSI) based on the severity of complication, and the standardized mortality ratio (SMR) for each center was estimated. Analyses on the adequacy of care were performed. Results. 17 hospitals were classified as providing adequate and 10 as nonadequate care. Besides almost twofold increase in maternal mortality ratio, the main factors associated with nonadequate performance were geographic difficulty in accessing health services (P < 0.001), delays related to quality of medical care (P = 0.012), absence of blood derivatives (P = 0.013), difficulties of communication between health services (P = 0.004), and any delay during the whole process (P = 0.039). Conclusions. This is an example of how evaluation of the performance of health services is possible, using a benchmarking tool specific to Obstetrics. in this study the MSI was a useful tool for identifying differences in maternal mortality ratios and factors associated with nonadequate performance of care.Conselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq)Univ Campinas UNICAMP, Sch Med Sci, Dept Obstet & Gynaecol, BR-13083881 Campinas, SP, BrazilCtr Res Reprod Hlth Campinas Cemicamp, BR-13083888 Campinas, SP, BrazilUniv Fed Amazonas, Manaus, Amazonas, BrazilSch Med Sci, CISAM, Recife, PE, BrazilUniv Fed Ceara, Fortaleza, Ceara, BrazilUniv Fed Bahia, Salvador, BA, BrazilHosp Geral Cesar Cals, Fortaleza, Ceara, BrazilHosp Geral Fortaleza, Fortaleza, Ceara, BrazilMaternidade Odete Valadares, Belo Horizonte, MG, BrazilHosp Materno Infantil, Goiania, Go, BrazilInst Materno Infantil Pernambuco, Recife, PE, BrazilUniv Fed Pernambuco, Recife, PE, BrazilUniv Fed Campina Grande, Campina Grande, PB, BrazilUniv Fed Maranhao, Sao Luis, MA, BrazilUniv Fed Parana, BR-80060000 Curitiba, Parana, BrazilUniv Fed Paraiba, BR-58059900 Joao Pessoa, Paraiba, BrazilHosp Maternidade Fernando Magalhaes, Rio de Janeiro, RJ, BrazilUniv Fed Rio Grande do Sul, Porto Alegre, RS, BrazilHosp Maternidade Celso Pierro, Campinas, SP, BrazilInst Fernandes Figueira Fiocruz, Rio de Janeiro, RJ, BrazilHosp Israelita Albert Einstein, São Paulo, BrazilUniv State São Paulo, Botucatu, SP, BrazilJundiai Sch Med, Jundiai, SP, BrazilUniv São Paulo, BR-14049 Ribeirao Preto, SP, BrazilSanta Casa Limeira, Limeira, SP, BrazilSanta Casa Sao Carlos, Sao Carlos, SP, BrazilMaternidade Leonor Mendes de Barros, São Paulo, BrazilUniversidade Federal de São Paulo, São Paulo, BrazilUniversidade Federal de São Paulo, São Paulo, BrazilCNPq: 402702/2008-5Web of Scienc

Prevalence, Awareness, and Treatment of Hypertension in Patients with Type 1 Diabetes: A Nationwide Multicenter Study in Brazil

Objective. This study evaluated the prevalence, awareness, and type of treatment for hypertension in Brazil in patients with type 1 diabetes (T1D). Methods. This was a cross-sectional, multicenter study that was conducted from December 2008 to December 2010 in 28 public clinics located in 20 Brazilian cities. Results. A total of 3,591 patients were studied, 56% female, average age 21.2±11.7 years, with a median duration of diabetes 9.6±8.1 years. Blood pressure levels were available for a total of 3,323 patients and 689 (19.2%) patients were hypertensive. Hypertensive patients were older, exhibited longer duration of diabetes, and had higher body mass index (BMI), total cholesterol, triglycerides, and LDL-C values (P<0.001, for all comparisons), but only 370 (53.7%) received treatment. Patient awareness of hypertension was documented in 453 (65.5%) patients. However, only 76 (22.9%) of the treated patients attained the target systolic (sBP) and diastolic blood pressures (dBP). Conclusions. Our results demonstrate that a large number of T1D patients with hypertension do not receive appropriate treatment; few of the treated T1D patients achieved the target sBP and dBP values. Greater attention should be paid to blood pressure evaluation, hypertension diagnosis, and treatment of T1D patients in Brazil

Discovery and characterisation of two Neptune-mass planets orbiting HD 212729 with TESS

We report the discovery of two exoplanets orbiting around HD 212729 (TOI\,1052, TIC 317060587), a $T_{\rm eff}=6146$K star with V=9.51 observed by TESS in Sectors 1 and 13. One exoplanet, TOI-1052b, is Neptune-mass and transits the star, and an additional planet TOI-1052c is observed in radial velocities but not seen to transit. We confirm the planetary nature of TOI-1052b using precise radial velocity observations from HARPS and determined its parameters in a joint RV and photometry analysis. TOI-1052b has a radius of $2.87^{+0.29}_{-0.24}$ R$_{\oplus}$, a mass of $16.9\pm 1.7$ M$_{\oplus}$, and an orbital period of 9.14 days. TOI-1052c does not show any transits in the TESS data, and has a minimum mass of $34.3^{+4.1}_{-3.7}$ M$_{\oplus}$ and an orbital period of 35.8 days, placing it just interior to the 4:1 mean motion resonance. Both planets are best fit by relatively high but only marginally significant eccentricities of $0.18^{+0.09}_{-0.07}$ for planet b and $0.24^{+0.09}_{-0.08}$ for planet c. We perform a dynamical analysis and internal structure model of the planets as well as deriving stellar parameters and chemical abundances. The mean density of TOI-1052b is $3.9^{+1.7}_{-1.3}$ g cm$^{-3}$ consistent with an internal structure similar to Neptune. A nearby star is observed in Gaia DR3 with the same distance and proper motion as TOI-1052, at a sky projected separation of ~1500AU, making this a potential wide binary star system.Comment: Accepted to MNRAS. 11 page

Skin color and severe maternal outcomes: evidence from the brazilian network for surveillance of severe maternal morbidity

Taking into account the probable role that race/skin color may have for determining outcomes in maternal health, the objective of this study was to assess whether maternal race/skin color is a predictor of severe maternal morbidity. This is a secondary analysis of the Brazilian Network for Surveillance of Severe Maternal Morbidity, a national multicenter cross-sectional study of 27 Brazilian referral maternity hospitals. A prospective surveillance was performed to identify cases of maternal death (MD), maternal near miss (MNM) events, and potentially life-threatening conditions (PLTC), according to standard WHO definition and criteria. Among 9,555 women with severe maternal morbidity, data on race/skin color was available for 7,139 women, who were further divided into two groups: 4,108 nonwhite women (2,253 black and 1,855 from other races/skin color) and 3,031 white women. Indicators of severe maternal morbidity according to WHO definition are shown by skin color group. Adjusted Prevalence Ratios (PRadj - 95%CI) for Severe Maternal Outcome (SMO=MNM+MD) were estimated according to sociodemographic/obstetric characteristics, pregnancy outcomes, and perinatal results considering race. Results. Among 7,139 women with severe maternal morbidity evaluated, 90.5% were classified as PLTC, 8.5% as MNM, and 1.6% as MD. There was a significantly higher prevalence of MNM and MD among white women. MNMR (maternal near miss ratio) was 9.37 per thousand live births (LB). SMOR (severe maternal outcome ratio) was 11.08 per 1000 LB, and MMR (maternal mortality ratio) was 170.4 per 100,000 LB. Maternal mortality to maternal near miss ratio was 1 to 5.2, irrespective of maternal skin color. Hypertension, the main cause of maternal complications, affected mostly nonwhite women. Hemorrhage, the second more common cause of maternal complication, predominated among white women. Nonwhite skin color was associated with a reduced risk of SMO in multivariate analysis. Nonwhite skin color was associated with a lower risk for severe maternal outcomes. This result could be due to confounding factors linked to a high rate of Brazilian miscegenation.2019CNPQ - Conselho Nacional de Desenvolvimento Científico e Tecnológico402702/2008-

TESS Hunt for Young and Maturing Exoplanets (THYME) IX: a 27 Myr extended population of Lower-Centaurus Crux with a transiting two-planet system

We report the discovery and characterization of a nearby (~ 85 pc), older (27 +/- 3 Myr), distributed stellar population near Lower-Centaurus-Crux (LCC), initially identified by searching for stars co-moving with a candidate transiting planet from TESS (HD 109833; TOI 1097). We determine the association membership using Gaia kinematics, color-magnitude information, and rotation periods of candidate members. We measure it's age using isochrones, gyrochronology, and Li depletion. While the association is near known populations of LCC, we find that it is older than any previously found LCC sub-group (10-16 Myr), and distinct in both position and velocity. In addition to the candidate planets around HD 109833 the association contains four directly-imaged planetary-mass companions around 3 stars, YSES-1, YSES-2, and HD 95086, all of which were previously assigned membership in the younger LCC. Using the Notch pipeline, we identify a second candidate transiting planet around HD 109833. We use a suite of ground-based follow-up observations to validate the two transit signals as planetary in nature. HD 109833 b and c join the small but growing population of <100 Myr transiting planets from TESS. HD 109833 has a rotation period and Li abundance indicative of a young age (< 100 Myr), but a position and velocity on the outskirts of the new population, lower Li levels than similar members, and a CMD position below model predictions for 27 Myr. So, we cannot reject the possibility that HD 109833 is a young field star coincidentally nearby the population.Comment: 23 pages, 15 figures, Accepted for publication in A

TESS spots a mini-neptune interior to a hot saturn in the TOI-2000 system

Hot jupiters (P 60 $\mathrm{M}_\oplus$) are almost always found alone around their stars, but four out of hundreds known have inner companion planets. These rare companions allow us to constrain the hot jupiter's formation history by ruling out high-eccentricity tidal migration. Less is known about inner companions to hot Saturn-mass planets. We report here the discovery of the TOI-2000 system, which features a hot Saturn-mass planet with a smaller inner companion. The mini-neptune TOI-2000 b ($2.70 \pm 0.15 \,\mathrm{R}_\oplus$, $11.0 \pm 2.4 \,\mathrm{M}_\oplus$) is in a 3.10-day orbit, and the hot saturn TOI-2000 c ($8.14^{+0.31}_{-0.30} \,\mathrm{R}_\oplus$, $81.7^{+4.7}_{-4.6} \,\mathrm{M}_\oplus$) is in a 9.13-day orbit. Both planets transit their host star TOI-2000 (TIC 371188886, V = 10.98, TESS magnitude = 10.36), a metal-rich ([Fe/H] = $0.439^{+0.041}_{-0.043}$) G dwarf 174 pc away. TESS observed the two planets in sectors 9-11 and 36-38, and we followed up with ground-based photometry, spectroscopy, and speckle imaging. Radial velocities from CHIRON, FEROS, and HARPS allowed us to confirm both planets by direct mass measurement. In addition, we demonstrate constraining planetary and stellar parameters with MIST stellar evolutionary tracks through Hamiltonian Monte Carlo under the PyMC framework, achieving higher sampling efficiency and shorter run time compared to traditional Markov chain Monte Carlo. Having the brightest host star in the V band among similar systems, TOI-2000 b and c are superb candidates for atmospheric characterization by the JWST, which can potentially distinguish whether they formed together or TOI-2000 c swept along material during migration to form TOI-2000 b.Comment: v3 adds RV frequency analysis; 25 pages, 11 figures, 14 tables; revision submitted to MNRAS; machine-readable tables available as ancillary files; posterior samples available from Zenodo at https://doi.org/10.5281/zenodo.7683293 and source code at https://doi.org/10.5281/zenodo.798826

Genotype and phenotype landscape of MEN2 in 554 medullary thyroid cancer patients: the BrasMEN study

Multiple endocrine neoplasia type 2 (MEN2) is an autosomal dominant genetic disease caused by RET gene germline mutations that is characterized by medullary thyroid carcinoma (MTC) associated with other endocrine tumors. Several reports have demonstrated that the RET mutation profile may vary according to the geographical area. In this study, we collected clinical and molecular data from 554 patients with surgically confirmed MTC from 176 families with MEN2 in 18 different Brazili an centers to compare the type and prevalence of RET mutations with those from other countries. The most frequent mutations, classified by the number of families affected, occur in codon 634, exon 11 (76 families), followed by codon 918, exon 16 (34 families: 26 with M918T and 8 with M918V) and codon 804, exon 14 (22 families: 15 with V804M and 7 with V804L). When compared with other major published series from Europe, there are several similarities and some differences. While the mutations in codons C618, C620, C630, E768 and S891 present a similar prevalence, some mutations have a lower prevalence in Brazil, and others are found mainly in Brazil (G533C and M918V). These results reflect the singular proportion of European, Amerindian and African ancestries in the Brazilian mosaic genome83289298CONSELHO NACIONAL DE DESENVOLVIMENTO CIENTÍFICO E TECNOLÓGICO - CNPQCOORDENAÇÃO DE APERFEIÇOAMENTO DE PESSOAL DE NÍVEL SUPERIOR - CAPESFUNDAÇÃO DE AMPARO À PESQUISA DO ESTADO DE SÃO PAULO - FAPESPFUNDAÇÃO DE AMPARO À PESQUISA DO ESTADO DO RIO GRANDE DO SUL - FAPERGSSem informaçãoSem informação2006/60402-1; 2010/51547-1; 2013/01476-9; 2014/06570-6; 2009/50575-4; 2010/51546-5; 2012/21942-116/2551-0000482-

Heterozygous aggrecan variants are associated with short stature and brachydactyly: Description of 16 probands and a review of the literature

[EN]Objective: Mutations in the aggrecan gene (ACAN) have been identified in two autosomal dominant skeletal dysplasias, spondyloepiphyseal dysplasia, Kimberley type (SEDK), and osteochondritis dissecans, as well as in a severe recessive dysplasia, spondyloepimetaphyseal dysplasia, aggrecan type. Next-generation sequencing (NGS) has aided the identification of heterozygous ACAN mutations in individuals with short stature, minor skeletal defects and mild facial dysmorphisms, some of whom have advanced bone age (BA), poor pubertal spurt and early growth cessation as well as precocious osteoarthritis