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Pathology confirmed the ectopic pregnancy. A literature review revealed only two prior documented cases of pathology-confirmed ectopic pregnancy in the setting of a negative serum hCG test. The patient had experienced an abortion two months earlier without a documented intrauterine pregnancy. Her hCG levels were followed to less then 5 mIU/mL and she had not yet had return of menses at the time of her presentation. Perhaps a chronic ectopic could explain this unusual case. This case highlights that an ectopic pregnancy should never be excluded from the differential diagnosis in a woman of reproductive age.The aim of this study was to assess the risk of exposure to polycyclic aromatic hydrocarbons (PAH) from yerba mate infusions in Uruguay using the margin of exposure approach (MOE) and a probabilistic method (Monte Carlo simulation). Servings/day, portion size, weekly frequency of mate consumption and body weight were the factors considered. The amount in infusions of benz[a]pyrene (B[a]P), PAH2 (sum of chrysene and B[a]P), and PAH4 (sum of benz[a]anthracene, chrysene, benz[b]fluoranthene and B[a]P) were used as markers of PAH exposure. Total content of PAH in infusions had large inter-brand variability (48-54 %) with significant differences among brands. PAH content in infusions prepared as habitually consumed was about 40 % of total content. The probability of occurrence of MOE  less then  10,000 varied according to the infusion preparation and the marker of exposure used, being higher for infusions prepared for total content and when B[a]P was used as marker of exposure. When the average B[a]P amount in infusion as habitually consumed was used in the simulation model, the probability of MOE  less then  10,000 was 9 %. The main factors contributing to B[a]P MOE variance were B[a]P amount (28.4 %), servings/day (17.3 %), and portion size (9.6 %). Heavy drinkers of yerba mate with high B[a]P content are those at risk to PAH exposure from mate infusions.Cases of rectal foreign bodies (RFB) insertion are frequently encountred in the last years, leading to many complications, while many patients tends to obscure the context. This entity represent a particular form of rectal injuries that can be more lethal with the peritoneal involvement. However, combination of genitourinary injuries to rectal injuries doesn't worsen the prognosis. We report a case of a RFB injury leading to an extraperitoneal rectal injuri with a recto-vesical fistula that was managed effectively conservatively with successive CT Cystogram follow-ups.A 48-year-old male with HIV/AIDS presented with an enlarging nodular lesion on the base of his penis. Histology revealed changes consistent with chronic viral infection and culture grew herpes simplex virus 2 (HSV-2). The lesion was refractory to valacyclovir and intralesional (IL) cidofovir therapy. Urology excised the mass and the defect was repaired primarily with good cosmetic result. Post-operative pathology confirmed HSV-2 despite the unusual appearance of the lesion consisting of nodular mass without gross ulceration.Steroid 21-hydroxylase deficiency accounts for 95% of congenital adrenal hyperplasia (CAH) cases. Newborn screening has allowed for early detection of the disease, and currently, molecular analysis can identify the genotypes of these patients. Phenotype-genotype correlation has been well described in previous studies. learn more In Costa Rica, there is no data about the genetic background of these patients, nor their phenotypic correlation.

Observational, retrospective, descriptive study based on the review of patient records who had a diagnosis of CAH and were performed molecular analysis using gene sequencing or MLPA during the period from 2006 to 2018 (

=58).

To describe the clinical and genetic characteristics of CAH patients due to 21-hydroxylase deficiency at the National Children's Hospital "Dr. Carlos Sáenz Herrera", Caja Costarricense de Seguro Social (CCSS) in Costa Rica.

53% (31/58) of the patients were male and 80% (37/46) were born full term; 72% (42/58) had salt wasting phenotype, 9% (5/58) simple virilizing phenotype and 19% (11/58) non-classic phenotype. The most frequent variants were c.292+5G>A in 26% (15/58) of patients and Del/Del in 21% (12/58) of them.

The most frequent mutation in our study population was the c.292+5G>A, which was found in 15/58 patients. This rare variant has only been reported in three other studies so far but as an infrequent mutation in CAH patients. The genetic characteristics of Costa Rican patients differ from what has been documented worldwide and could respond to a founder effect.

A, which was found in 15/58 patients. This rare variant has only been reported in three other studies so far but as an infrequent mutation in CAH patients. The genetic characteristics of Costa Rican patients differ from what has been documented worldwide and could respond to a founder effect.Two unique gene mutations in the enzyme beta-glucuronidase (GUSB) that result in the lysosomal storage disease Mucopolysaccharidosis (MPS) type VII had previously been reported to have differing disease phenotype severities when compared on differing mouse strains. The MPSVII mouse has proven to be a highly efficacious model to study mucopolysaccharidoses and for evaluating potential gene or stem cell therapies for lysosomal storage diseases. We examined the single base pair deletion (MPSVII) and the intracisternal A particle element insertion (MPSVII2J) in GUSB compared with control animals by skeletal measures, electroretinography, auditory-evoked brainstem response and life span on a C57BL/6J background strain. In all measures, both mutations result in either a trend toward or significant changes from the background strain control. In all measures, there is no significant phenotypic difference between the two mutations. The 2J variant is a more easily genotyped and equally affected phenotype, which holds promise for further studies of chimerism and stem cell therapy approaches.

Gaucher disease (GD) is a rare inherited multiorgan disorder, yet a diagnosis can be significantly delayed due to a broad spectrum of symptoms and lack of disease awareness. Recently, the prototype of a GD point-scoring system (PSS) was established by the Gaucher Earlier Diagnosis Consensus (GED-C) initiative, and more recently, validated in Gaucher patients in UK. In our study, the original GED-C PSS was tested in Finnish GD patients. Furthermore, the feasibility of point scoring large electronic health record (EHR) data set by data mining to identify potential undiagnosed GD cases was evaluated.

This biobank study was conducted in collaboration with two Finnish biobanks. Five previously diagnosed Finnish GD patients and~170,000 adult biobank subjects were included in the study. The original PSS was locally adjusted due to data availability issues and applied to the Finnish EHR data representing special health care recordings.

All GD patients had high levels of the biomarker lyso-Gb1 and deleterious

mutations.