Hypoxic hepatitis was not a rare condition, and was frequently accompanied by multiorgan injury, with high mortality. Risk factors for increased mortality were prolonged INR, need for renal replacement therapy, and septic shock.

Drainage of cerebrospinal fluid by means of external lumbar drainage (ELD) is controversial in the adult population with traumatic brain injury. We report our experience with ELD in the treatment of post-traumatic high intracranial pressure (ICP) and the results of the long-term follow-up in these patients.We undertook clinical evaluation of 30 patients with traumatic brain injury and high ICP treated with secondtier measures or with first-tier measures if second-tier measures were contraindicated. The study involved a retrospective review of collected data. Outcome at intensive care unit discharge and three to five years after injury were evaluated with the Glasgow Outcome Scale.The mean age of patients was 34.9±12.5 years and 25 (83%) were male. The median (interquartile range) Glasgow Coma score was 8 (7 to 10). ICP before and one hour after ELD placement was 33.7±9.0 and 12.5±4.8 mmHg respectively, a decrease in 21.2±8.3 mmHg (P <0.0001). ELD was placed after a mean of 8.6±3.9 days. Cerebrospinal fluid drainage was maintained for a mean of 6.6±3.5 days. Four patients (13%) required ELD replacement and one patient developed a cerebrospinal fluid infection (3%). No pupillary changes were noted within 48 hours of ELD placement. Long-term outcome was favourable (good recovery or moderate disability) in 62% of the patients studied.The use of ELD resulted in a marked decrease in ICP. These patients presented a good outcome in 62% of the cases in the long-term evaluation. Few complications related with ELD use were noted.

Disorders of sex development (DSDs) are congenital conditions in which the external appearance of the individual does not coincide with the chromosomal constitution or the gonadal sex. In other words, there is an ambiguous or intermediate condition between the male and female phenotypes of the anatomical sex. These atypical conditions are manifested in several ways, ranging from genital ambiguity to phenotypes that are so attenuated that they can go unnoticed or appear normal. Currently, there is a lack of understanding of the factors responsible for these outcomes; however, they are likely to be conditioned by genetic, hormonal and environmental factors during prenatal and postnatal development. The present study determined the genetic etiology of DSDs in Colombian patients by conventional cytogenetic analysis, FISH and MLPA (for SF1, DAX1, SOX9, SRY and WNT4). A cohort of 43 patients with clinical phenotypes of sex development disorder was used in the present study. Using this multistep experimental approach, a diagnostic percentage of 25.58% was obtained: 17 patients (39.53%) were classified as having gonadal development disorders, the majority of which were ovotesticular disorders with numerical and/or structural alterations of the sex chromosomes, 9 patients (20.93%) were classified as having testicular DSD with a 46,XY karyotype, and 3 patients (6.98%) as having ovarian DSD with a 46,XX karyotype. The remaining 14 patients (32.56%) were classified as ‘other’ since they could not be grouped into a specific class of gonadal development, corresponding to hypospadias and multiple congenital anomalies. These findings highlight the importance of histological and cytogenetic studies in a gonadal biopsy. In 11/43 cases, the multistep experimental protocol presented in the present study yielded etiological or histological findings that could be used to define the medical management of patients with DSDs. In conclusion, for the etiological diagnosis of DSDs, a broad-spectrum approach that includes endocrinological tests, conventional karyotyping, molecular karyotyping by FISH and, molecular tests is required, in addition to gonadal tissue analyses, to identify genetic alterations.

Two sisters phenotypically normal females, presenting with tumor abdominal mass with histopathological findings of teratoma and gonadoblastoma associated to 46,XY male-to-female sex reversal syndrome, secondary to a duplication in DAX-1, possibly inherited of maternal gonadal mosaicism. Copy number variation and functional effects of the duplication were done by MLPA multiplex ligation-dependent probe amplification and real time PCR. DAX-1, also known as dosage sensitive sex reversal gene (DSS), is considered the most likely candidate gene involved in XY gonadal dysgenesis when overexpressed. The excess of DAX-1 gene disturbs testicular development by down regulation of SF-1, WT1, and SOX9. This is the first report of 46,XY sex reversal in two siblings who have a maternally inherited duplication of DAX-1 associated with reduced levels of expression of downstream genes as SOX9-SF1.