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Porto Primavera geosite comprises aeolian sandstones with tetrapod trace fossil cropping out at the Porto Primavera Hydroelectric Power Plant, São Paulo State, Brazil. The Upper Cretaceous Rio Paraná Formation, which contains these tracks, is composed of medium–fine quartzarenites well- sorted and supermature, with typically large tabular/trough cross-bedding. They accumulated in complexes of large barchanoid dunes, moved by winds to the south-west. The Porto Primavera association consists of tracks of theropod dinosaurs and small mammals preserved in concave epirelief. These rare records in aeolian desert environments from the Late Cretaceous of Brazil indicate that even the interior Caiuá desert was occupied by organisms. The study focused on the characterization of the ichnofossils, assessing their susceptibility to degradation by natural and anthropogenic processes, and proposing measures to manage the geosite. Because the risk of degradation of the geosite is high, it is proposed that prior to their removal the slabs should be replaced with synthetic resin replicas made using silicone rubber moulds. The sense of disconnection between the objects and their natural geological context could be addressed by depositing the objects near the geosite in the Museum of Regional Memory. The geosite is indicated as a new holostratotype to the Rio Paraná Formation.

Congenital oropharyngeal teratoma is a rare tumor subtype with cells from the three germ layers, majorly being benign. Whereas teratoma develops early in intrauterine life, thus affecting the growth and development of adjacent structures, the purpose of this case report is to present the sequelae of this tumor in a child's oral cavity. Female child, 2 years and 3 months old referred by the otorhinolaryngologist for dental evaluation. The mother´s main complaint was the the child could not close her mouth. According to the child's medical record, at 34th week of gestation, during the routine ultrasound examination, the presence of the anechoic tumor mass was observed without Doppler signal, presenting a 3.2cm x 2.4cm diameter outside through the oral cavity. At 17 and 32 days of life, respectively, the excision of the largest and residual tumor located on the floor of the mouth was performed. Upon anatomopathological examination, the tumor with was classified as a mature teratoma. In the intraoral examination, a deep and atresia palate incomplete cleft palate, bone growth in the region of the posterior alveolar ridge of the maxilla, and in the posterior region of the mandible on the left side, "V" shaped mandible and microglossia, crowding were observed dental agenesis of the lower lateral incisors, absence of caries lesions, gingivitis and enamel development defects. The child will remain under the regular dental pediatric follow-up. Several sequelae were observed in the child's oral cavity and the need for multi-professional follow-up after excision of congenital oropharyngeal teratoma.

The arthrogryposis, renal dysfunction, and cholestasis syndrome (ARCS) is an autosomal recessive multisystem disease caused by variants in

Background Mucopolysaccharidosis type VII (MPS VII), also known as Sly syndrome, caused by deficiency of the lysosomal enzyme β-glucuronidase, is an ultra-rare disorder with scarce epidemiological data and few publications about natural history and clinical spectrum. Methods We conducted a case series report which included retrospective data from all MPS VII patients diagnosed through the “MPS Brazil Network” who were known to be alive in 2020 in Brazil (N = 13). Clinical data were obtained from a review of the medical records and descriptive statistics and variables were summarized using counts and percentages of the total population. Results The majority of the patients were from the Northeast region of Brazil. Among the signs and symptoms that raised the clinical suspicion of MPS, coarse face was the most frequent; 58% of the patients had a history of non-immune hydrops fetalis. All the subjects presented short neck and trunk. The majority presented typical phenotypical signs of MPS disorders. They all presented neurodevelopmental delay and cognitive impairment. About half of this cohort had knees deformities. Dysostosis multiplex was identified in almost all patients and cardiomyopathy was less frequent than observed in other types of MPSs. The mean age at diagnosis was 5 years, ranging from 1 to 14 years. Almost all patients (12/13) were homozygous for the c.526C>T (p.Leu176Phe) mutation. A novel variant of the GUSB gene was found, the c.875T>C (p.Leu292Pro), in a compound heterozygous with the c.526C>T (p.Leu176Phe) variant. Conclusions This case series is the biggest data collection of MPS VII patients alive in Latin America. The overall clinical picture of the MPS VII patients is very similar to other MPS disorders, including a spectrum of severity and delayed diagnosis.

Multiple Sulfatase Deficiency (MSD) is a rare autosomal recessive disease in which the activities of all sulfatases are reduced; its estimated prevalence is 1:1.4 million births. The disease is caused by mutations in SUMF1, which encodes an enzyme involved in the post-translational modification of sulfatases. The MSD phenotype is a combination of the clinical features found in diseases resulting from a deficiency of the individual sulfatases; i.e., mucopolysaccharidosis II, IIIA, IIID, IVA and VI, metachromatic leukodystrophy, X-linked ichthyosis, and the X-linked recessive form of chondrodysplasia punctata. We describe herein the first case of a Brazilian patient with MSD. The case was initially diagnosed as having mucopolysaccharidosis (MPS), due to skeletal alterations, coarse facial features, and urinary excretion of dermatan sulfate and heparan sulfate. Later, after a detailed biochemical investigation, the diagnosis of MSD was established. The analysis of the SUMF1 showed the patient was a compound heterozygote for two novel mutations (p.R349G and p.F244S). This case illustrates the challenges in the diagnosis of a disease considered rare, such as MSD. We point out that the availability of therapy for certain MPS disorders necessitates correct disease assignment, and the need to exclude the likelihood of MSD.

Mucopolysaccharidosis type I (MPS I) is a rare lysosomal disorder caused by deficiency of alpha-L-iduronidase. Few clinical trials have assessed the effect of enzyme replacement therapy (ERT) for this condition. We conducted an exploratory, open-label, non-randomized, multicenter cohort study of patients with MPS I. Data were collected from questionnaires completed by attending physicians at the time of diagnosis (T1; n = 34) and at a median time of 2.5 years later (T2; n = 24/34). The 24 patients for whom data were available at T2 were allocated into groups: A, no ERT (9 patients; median age at T1 = 36 months; 6 with severe phenotype); B, on ERT (15 patients; median age at T1 = 33 months; 4 with severe phenotype). For all variables in which there was no between-group difference at baseline, a delta of ≥ ± 20% was considered clinically relevant. The following clinically relevant differences were identified in group B in T2: lower rates of mortality and reported hospitalization for respiratory infection; lower frequency of hepatosplenomegaly; increased reported rates of obstructive sleep apnea syndrome and hearing loss; and stabilization of gibbus deformity. These changes could be due to the effect of ERT or of other therapies which have also been found more frequently in group B. Our findings suggest MPS I patients on ERT also receive a better overall care. ERT may have a positive effect on respiratory morbidity and overall mortality in patients with MPS I. Additional studies focusing on these outcomes and on other therapies should be performed.

Diferentes fitofisionomias influenciam a partição das chuvas pela floresta. O objetivo deste estudo foi quantificar a precipitação interna e estimar a interceptação em Floresta Ombrófila MistaAlto-Montana no Parque Estadual de Campos do Jordão, SP. Para tanto, 30 pluviômetros foram instalados sob o dossel em uma parcela de 600 m2 e 3 pluviômetros foram alocados em área aberta adjacente. O escoamento pelo tronco não foi medido. As medições foram realizadas diariamente, entre 22 de dezembro de 2013 e 21 de dezembro de 2014. A precipitação no aberto no período somou 1.055 mm em 112 dias de coletas, a precipitação interna contabilizou 907,3 mm e a floresta interceptou 147,7 mm. Esses valores correspondem, em média, a 86% de precipitação interna e 14% de interceptação do total precipitado. A precipitação interna foi maior que a precipitação fora da floresta em 16 eventos, com 6,3% de interceptação negativa em agosto. A precipitação interna e a precipitação no aberto se relacionam por meio de uma regressão linear simples com coeficiente de determinação (R2) superior a 90%, tanto para o período chuvoso como para o período seco.