Case report: two novel PPARG pathogenic variants associated with type 3 familial partial lipodystrophy in Brazil.

INTRODUCTION AND AIM: Type 3 Familial Partial Lipodystrophy (FPLD3) is a rare metabolic disease related to pathogenic PPARG gene variants. FPLD3 is characterized by a loss of fatty tissue in the upper and lower limbs, hips, and face. FPLD3 pathophysiology is usually associated with metabolic comorbidities such as type 2 diabetes, insulin resistance, hypertriglyceridemia, and liver dysfunction. Here, we clinically and molecularly characterized FPLD3 patients harboring novel PPARG pathogenic variants. MATERIALS AND METHODS: Lipodystrophy-suspected patients were recruited by clinicians from an Endocrinology Reference Center. Clinical evaluation was performed, biological samples were collected for biochemical analysis, and DNA sequencing was performed to define the pathogenic variants associated with the lipodystrophic phenotype found in our clinically diagnosed FPLD subjects. Bioinformatics predictions were conducted to characterize the novel mutated PPARγ proteins. RESULTS: We clinically described FPLD patients harboring two novel heterozygous PPARG variants in Brazil. Case 1 had the c.533T > C variant, which promotes the substitution of leucine to proline in position 178 (p.Leu178Pro), and cases 2 and 3 had the c.641 C > T variant, which results in the substitution of proline to leucine in the position 214 (p.Pro214Leu) at the PPARγ2 protein. These variants result in substantial conformational changes in the PPARγ2 protein. CONCLUSION: Two novel PPARG pathogenic variants related to FPLD3 were identified in a Brazilian FPLD cohort. These data will provide new epidemiologic data concerning FPLD3 and help understand the genotype-phenotype relationships related to the PPARG gene.

Effects of clamping umbilical cord on the neonatal viability of puppies delivered by cesarean section.

In human neonates, when the umbilical cord is kept intact postpartum, blood continues to flow to the neonate, but this procedure might be difficult in dogs owing to a shorter umbilical cord and several neonates in a litter. However, it might be possible to detach the placenta and keep the umbilical cord intact, allowing residual blood to flow to the puppies. This study compared the effects of clamping versus no clamping of the umbilical cord in dogs born by cesarean section on neonatal vitality. The puppies were assessed by Apgar and reflex scores. Fifty puppies delivered from 16 bitches were randomly allocated to receive immediate umbilical cord clamping (n=25) or no clamping for at least 3 min after the onset of breathing (n=25). The puppies were assessed during the first 5 min of life and 10 min after the first assessment. The no clamping group showed significantly higher Apgar scores (second assessment, P<0.01) and reflex scores (first and second assessments, P<0.05) than the clamping group, implying higher vitality in the no clamping group. The differences observed between the moments (first versus second assessment) of each group was significant (P<0.01), revealing higher vitality in the second assessment. The results suggest that keeping the umbilical cord intact for at least 3 min after the onset of breathing may contribute to increased vitality in puppies delivered by cesarean section without any negative consequences.

Etiology of childhood diarrhea in the northeast of Brazil: significant emergent diarrheal pathogens.

In a study conducted in João Pessoa, northeast of Brazil, 2344 Escherichia coli isolated from 290 infants with diarrhea and 290 healthy matched controls were analyzed for virulence traits. Enteroaggregative E. coli (EAEC) was the most prevalent pathogen associated to acute diarrhea. Based on the results of colony blot hybridization, serotyping, and HEp-2 cell adherence assays, strains were separated in categories as typical enteropathogenic E. coli (EPEC) (1.7%), atypical EPEC (a-EPEC) (9.3%), EAEC (25%), enterotoxigenic E. coli (10%), and enteroinvasive E. coli (EIEC) (1.4%). No enterohemorrhagic E. coli strains were isolated. Other enteropathogens were found, including Salmonella (7.9%), Shigella spp. (4.1%), thermophilic Campylobacter spp. (2.4%), Giardia lamblia (9.3%), and Entamoeba histolytica (5.8%). All enteropathogens were associated with diarrhea (P < 0.01). However, the association was lower for EPEC and EIEC (P < 0.03). Different pathogens associated with diarrhea may have been changing in Brazil where EAEC and a-EPEC seem to be the most prevalent pathogens among them.

Síndrome de Pancoast associada a carcinoma anaplásico de pulmão / Syndrome of Pancoast associated with anaplastic lung carcinoma

Relataram-se três casos clássicos de Síndrome de Pancoast causado por "tumor do ápice pulmonar". O diagnóstico foi efetuado em material obtido por toracotomia exploratória. São discutidos os possíveis mecanismos patogênicos que possam ter levado ao desenvolvimento da síndrome de Pancoast associado a "tumor do ápice pulmonar" e a necessidade de um apurado senso clínico para o diagnóstico precoce e tratamento de tais condições mórbidas. Ressalta-se que a imunoterapia, nesses casos, situa-se mais para um conceito promissor do que para uma realidade terapêutica específica