Growth of very low birth weight infants at 12 months corrected age in southern Brazil

The objective of this article is to describe growth of very low birth weight infants born in southern Brazil. All infants weighing < or =1500 g were followed up until 12 months corrected age (CA). Growth was recorded at 40 weeks, 6 and 12 months CA. Catch up was considered if the measures were > or =-2 SD of World Health Organization growth charts for weight and length; and of National Center for Health Statistics for head circumference. One hundred and ninety three infants born were followed up for the study. At 40 weeks CA, 57.8% patients achieved catch-up in weight and 50.9% in length. At 6 months CA, 82.2% achieved catch-up for weight and length and at 1 year CA, 92% achieved catch-up in weight and 86.9% in length. Catch-up in head circumference was achieved for 93.4%, 85.9% and 85% patients at 40 weeks, 6 months and 12 months CA, respectively. At 12 months CA, no catch-up in weight, length and head circumference was related to higher SNAPPE-II (P = 0.046) and periventricular leukomalacia (PVL) (P = 0.003); longer time to achieve full enteral nutrition at the neonatal intensive care unit (NICU) (P = 0.037), lower maternal education (P = 0.018) and PVL (P = 0,003); higher SNAPPE-II (P = 0,004), PVL (P = 0.005) and longer time to achieve full enteral nutrition at the NICU (P = 0.044), respectively. In conclusion, PVL and higher SNAPPE-II were important factors to catch-up delay. Catch-up growth was high at 12 months CA.     

Signet ring cell perianal paget disease: loss of MUC2 expression and loss of signet ring cell morphology associated with invasive disease

Perianal Paget disease (PPD) is a rare and heterogeneous neoplasm in which underlying associated adenocarcinoma is a frequent comorbidity. Previous attempts have been made to define the cells of origin of this neoplasm and delineate the discriminating immunohistochemical (IHC) signature of primary versus secondary disease. We report a case of PPD in a 32-year-old male, that displays an unusual multiclonal immunostaining pattern with focal loss of MUC2 expression and simultaneous phenotypic loss of signet ring cell morphology associated with invasive disease. We postulate that our case captures the transition from PPD to invasive carcinoma. The loss of MUC2 positivity seen in this case could be relevant to biopsies of PPD in which no areas of invasion are initially found, and consequently a more thorough pathologic evaluation for invasive disease should be undertaken in cases with MUC2 negativity. Despite promising IHC staining patterns in individual case reports, PPD remains a heterogeneous entity. The specific IHC signature of primary versus secondary disease remains difficult to define due to the small number of cases reported in the literature and additional studies are needed. Therefore, in addition to a case's microscopic findings including IHC studies, distinguishing individual cases of primary from secondary PPD requires clinical correlation.     

An unsuspected cause of hypnic-like headache

Journal of Neurology -     

Brain injury after moderate drowning: subtle alterations detected by functional magnetic resonance imaging

To describe cerebral (structural and functional MRI) and neuropsychological long term changes in moderate drowning victim’s compared to healthy volunteers in working memory and motor domains. We studied 15 adult drowning victim’s in chronic stage (DV - out of 157 eligible cases of sea water rescues with moderate drowning classification) paired to 18 healthy controls (HC). All participants were investigated using intelligence, memory, and attention neuropsychological standard tests and underwent functional (motor and working memory tasks) and structural magnetic resonance imaging (MRI) in a 3 T system. All images were preprocessed for head movement correction and quantitative analysis was performed using FSL and freesurfer software packages. We found no between group differences in neuropsychological assessments. No MRI brain lesion was observed in patients, neither difference on morphometric parameters in any cortical or subcortical brain structure. In constrast, functional MRI revealed that patients showed increased brain response in the motor (left putamen and insula) and memory (left cuneus and lingual gyrus – not the classical memory network) tasks. Functional brain changes in motor and visual brain regions in victims of moderate drowning may indicate reduced brain reserve, despite the lack of structural and behavior alterations. More attention should be given to investigate ageing effects in this nonfatal drowning group.     

The Pil3 pilus of Streptococcus gallolyticus binds to intestinal mucins and to fibrinogen

Streptococcus gallolyticus is a commensal bacterium responsible for infectious endocarditis in the elderly, which has frequently been associated with colonic carcinoma. Whether this species is a cause or a consequence of colorectal cancer remains unknown. We recently demonstrated that S. gallolyticus Pil3 pilus is required for adhesion to colonic mucus and for colonization of mouse distal colon. We show here that Pil3 pilus binds equally well to human colonic mucins derived from HT29-MTX cells and to human stomach mucins from healthy donors. In addition, we have found that Pil3 also binds to human fibrinogen, which expands the repertoire of Pil3 host ligands.     

Early diagnosis is critical to ensure good outcomes in HIV-infected children: outlining barriers to care

HIV-infected children require early initiation of antiretroviral therapy (ART) to ensure good outcomes. The aim was to investigate missed opportunities in childhood HIV diagnosis leading to delayed ART initiation. Baseline data were reviewed of all children aged <15 years referred over a 1-year period for ART initiation to the Kalafong Hospital HIV services in Gauteng, South Africa. Of the 250 children, one-quarter (24.5%) was of school-going age, 34.5% in the preschool group, 18% between 6 and 12 months old and 23% below 6 months of age (median age?=?1.5 years [interquartile range 0.5–4.8]). Most children (82%) presented with advanced/severe HIV disease, particularly those aged 6–12 months (95%). Malnutrition was prominent and referrals were mostly from hospital inpatient services (61%). A structured caregiver interview was conducted in a subgroup, with detailed review of medical records and HIV results. The majority (≥89%) of the 65 interviewed caregivers reported good access to routine healthcare, except for postnatal care (26%). Maternal HIV-testing was mostly done during the second and third pregnancy trimesters (69%). Maternal non-disclosure of HIV status was common (63%) and 83% of mothers reported a lack of psychosocial support. Routine infant HIV-testing was not done in 66%, and inadequate reporting on patient-held records (Road-to-Health Cards/Booklets) occurred frequently (74%). Children with symptomatic HIV disease were not investigated at primary healthcare in 53%, and in 68% of families the siblings were not tested. One-third of children (35%) had a previous HIV diagnosis, with 77% of caregivers aware of these prior results, while 50% acknowledged failing to attend ART services despite referral. In conclusion, a clear strategy on paediatric HIV case finding, especially at primary healthcare, is vital. Multiple barriers need to be overcome in the HIV care pathway to reach high uptake of services, of which especially maternal reasons for not attending paediatric ART services need further exploration.     

Identification of IL11RA and MELK amplification in gastric cancer by comprehensive genomic profiling of gastric cancer cell lines

AIM To identify common copy number alterations on gastric cancer cell lines.METHODS Four gastric cancer cell lines(ACP02, ACP03, AGP01 and PG100) underwent chromosomal comparative genome hybridization and array comparative genome hybridization. We also confirmed the results by fluorescence in situ hybridization analysis using the bacterial artificial chromosome clone and quantitative real time PCR analysis.RESULTS The amplification of 9p13.3 was detected in all cell lines by both methodologies. An increase in the copy number of 9p13.3 was also confirmed by fluorescence in situ hybridization analysis. Moreover, the interleukin 11 receptor alpha(IL11RA) and maternal embryonic leucine zipper kinase(MELK) genes, which are present in the 9p13.3 amplicon, revealed gains of the MELK gene in all the cell lines studied. Additionally, a gain in the copy number of IL11 RA and MELK was observed in 19.1%(13/68) and 55.9%(38/68) of primary gastric adenocarcinoma samples, respectively. CONCLUSION The characterization of a small gain region at 9p13.3 in gastric cancer cell lines and primary gastric adenocarcinoma samples has revealed MELK as a candidate target gene that is possibly related to the development of gastric cancer.