Early neonatal sudden death or near death syndrome. An epidemiological study of 29 cases

Early neonatal sudden death syndrome (SIDS) is a rare but well known disease entity. Between January 1975 and December 1991, 29 full-term newborn infants delivered in our maternity unit and, considered healthy at birth, suffered early SIDS ( n = 15) or early apparent life threatening events (ALTE) ( n = 14). Data from the whole population of live full-term infants born in our hospital during the past five years have been used as a reference (n = 27 841). The general rate of early SIDS was 0.14 per 1000 (15/107 263). Combining early ALTE cases, the overall rate was 0.27 per 1000 (291107263). A postmortem examination was performed for all infants who died (20/29): no cause of death could be determined, and we did not observe a single case with evident sequelae. There were 9 deaths (31 %) within the first hour after delivery and 12 deaths occurred in the early morning hours (04:00–08:00; RR = 3.76; p = 0.0008). The lowest incidence was in the spring (RR = 0.21; p = 0.03). There was a tendency for an increased incidence during the weekend and the summer. No influence of sex, maternal age, gestational age, infant weight presentation, delivery, anesthesia or presence of meconium-stained fluid was found. In our opinion, SIDS can take place even during the first hour of life and it is not possible to predict when a baby might be affected. Pediatrically trained caregivers, close observation by the mother during the first few days and resuscitation facilities in maternity wards may be the most important preventive measures to reduce the risk of early SIDS and the consequences of ALTE in the early newborn period.     

Successful treatment of retinal angiomatous proliferation by photodynamic therapy.

PURPOSE: The purpose of this study is to describe a patient with retinal angiomatous proliferation (RAP) treated successfully by photodynamic therapy. METHODS: A 74-year-old white woman was referred to our clinic for evaluation as a result of progressive decrease of vision in the right eye. Visual acuity was 20/100 in the affected right eye. The findings of fluorescein and indocyanine green angiography were consistent with a diagnosis of RAP, and cystoid macular edema was also revealed by optical coherence tomography (OCT). Photodynamic therapy (PDT) was carried out because of visual deterioration and localization of the RAP. RESULTS: The RAP was treated with PDT, and an improvement in visual acuity to 20/60 was noted 4 months after treatment and 20/40 after 6 months. The resolution of the lesion was confirmed by fluorescein angiography, indocyanine green angiography, and OCT. CONCLUSIONS: Photodynamic therapy can be effective for the treatment of RAP when it is associated with visual acuity decrease and is located near the fovea.     

Annular lipoatrophic panniculitis of the ankles

We report a girl with lipophagic lobular panniculitis of unknown origin located on her ankles leading to circumferential fat atrophy of the ankles, a condition usually referred to as "annular lipoatrophy of the ankles." According to our patient's features and five additional cases reported so far, we conclude that this condition is actually an end-stage manifestation of an idiopathic lobular panniculitis of children localized to the lower part of the lower limbs. An association with some autoimmune manifestations is highlighted.     

Metrological traceability of values for α-amylase catalytic concentration assigned to a commutable calibrator materials

BackgroundThe International Standard ISO 18153 describes how to assure the metrological traceability of catalytic concentration values assigned to commercial calibration materials following the reference measurement system. We applied this approach to the standardization of α-amylase measurements.MethodsTraceable values of catalytic activity with measurement uncertainty were assigned to three commercial calibrator materials using α-amylase primary reference measurement procedure described by the International Federation of Clinical Chemistry and Laboratory Medicine (IFCC). The metrological traceable to the SI units calibration was validated by measuring human serum and plasma samples using the primary reference procedure and two routine commercial measurement procedures using different substrates (4,6-ethylidene(G1)-4-nitrophenyl(G7)-α-(1→4)-d-maltoheptaoside (EPS) and 2-chloro-4-nitrophenyl-α-d-maltotrioside (CNP)) and calibrated with the traceable materials. Previously the commutability of the commercial calibration materials was verified.ResultsProcedures comparison showed that the primary reference procedure and routine procedures have the same analytical specificity. The commercial calibrators tested showed to be commutable and were used to recalibrate the routine measurement procedures. The agreement of procedures improves after recalibration with commutable calibrator materials.ConclusionsThe implementation of a reference system for α-amylase measurements was demonstrated that assures the traceability of patients' results to SI units and to harmonize the results obtained by two different routine procedures.     

An inconstant ligament in the popliteal region associated to the superior genicular arteries: surgical importance

Materials and methods In the dissection of 60 knees of 30 cadavers (13 women and 17 men), a ligament was located in the posterior femur face above the lateral or medial condyle.Results This ligamentous structure was found in 12 (20%) out of 60 knees studied (38% of the women and 35% of the men). It had a vertical arrangement and a constant direct relation to the superior (lateral or medial) genicular artery, and in no case it appeared as a posterior reinforcement of the capsule. The superior vessels were fixed by this ligament.Discussion This fixation may provide stability to the vascular tree but it could be a cause of post-surgical hemarthrosis in arthroscopy of the posterior knee area or in posterior or lateral knee approaches or it could be even implicated in vascular injury of the popliteal artery during knee dislocation.Conclusion The objective was to describe this inconstant ligament and to study its clinical relevance for surgical procedures, and particularly for those using the posterior approach to the knee joint.     

Diacerein decreases TNF-α and IL-1β levels in peritoneal fluid and prevents Baker’s yeast-induced fever in young rats

Objective

To investigate the effect of diacerein, an anti-inflammatory drug, on body temperature and protocols of fever induction in male Wistar rats.

Methods

The effect of diacerein (5.0 mg/kg, s.c.) on rectal temperature (T _R) changes induced by Baker’s yeast (0.135 g/kg, i.p.) and PGE₂ (10 ng/animal, i.t.) was evaluated. T _R changes were recorded over time. The leukocyte count and TNF-α and IL-1β content were evaluated in the peritoneal fluid by means of optical microscopy and enzyme immunoassay (ELISA kits), respectively.

Results

The administration of diacerein to febrile animals attenuated Baker’s yeast-induced fever but did not alter prostaglandin E₂-induced fever. Diacerein prevented the development of Baker’s yeast-induced fever and significantly attenuated the increase in peritoneal leukocytes and decreased IL-1β and TNF-α levels in peritoneal fluid.

Conclusions

These data suggest that diacerein partially protects against Baker’s yeast-induced fever and peritoneal leukocyte migration, and indicate that this effect appears to be due to inhibition of release of cytokines (such as TNF-α and IL-1β).     

Seroepidemiology of strongyloidiasis in the Peruvian Amazon

A stool and serosurvey for Strongyloides stercoralis was conducted in a community in the Peruvian Amazon region. Strongyloidiasis stercoralis was identified in the stool of 69 (8.7%) of 792 participants. Six hundred nine sera were tested using by an enzyme-linked immunosorbent assay (ELISA), which had a sensitivity of 92% and a specificity of 94%; 442 (72%) were positive. In multivariable logistic regression models, having S. stercoralis in stool was associated with hookworm in the same specimen (odds ratio [OR] = 4.44, 95% confidence interval [CI] = 2.02-9.79), occasionally or never wearing shoes (OR = 1.89, 95% CI = 1.10-3.27), and increasing age (OR = 1.012 for each one-year increase, 95% CI = 1.00-1.03). Similarly, occasionally or never wearing shoes (OR = 1.54, 95% CI = 1.01-2.37) and increasing age (OR = 1.04 for each one-year increase, 95% CI = 1.02-1.06) were associated with an increased risk of a positive S. stercoralis ELISA result. The ELISA had a negative predictive value of 98% and is an excellent screening test for strongyloidiasis.     

Intranasal immunization with a proteoliposome-derived cochleate containing recombinant gD protein confers protective immunity against genital herpes in mice

The purpose of this study was to investigate the potential of intranasal (IN) immunization with Neisseria meningitides B proteoliposome (AFPL1) and AFPL1-derived cochleate (AFCo1), containing glycoprotein D (gD) of herpes simplex virus type 2 (HSV-2) for induction of protective immunity against genital herpes infection in mice. We could show that IN immunization with both AFPL1 and AFCo1 containing gD induced gD-specific IgG antibody and lymphoproliferative responses. However, IFN-γ response could only be detected in CD4⁺ splenic cells and genital lymph node cells of the AFCo1gD immunized mice upon recall antigen stimulation in vitro. Importantly, IN immunization with AFCo1gD could elicit a complete protection against an otherwise lethal vaginal challenge with HSV-2, while the AFPL1gD immunized mice were only partially protected. Further, we could show that the IFN-γ response and protective immunity observed after IN immunization with AFCo1gD are mediated via the adaptor molecule myeloid differentiation factor 88. These data may have implications for the development of a mucosal vaccine against genital herpes.     

Elucidating the clinical significance of two <Emphasis Type="Italic">PMS2</Emphasis> missense variants coexisting in a family fulfilling hereditary cancer criteria

The clinical spectrum of germline mismatch repair (MMR) gene variants continues increasing, encompassing Lynch syndrome, Constitutional MMR Deficiency (CMMRD), and the recently reported MSH3-associated polyposis. Genetic diagnosis of these hereditary cancer syndromes is often hampered by the presence of variants of unknown significance (VUS) and overlapping phenotypes. Two PMS2 VUS, c.2149G>A (p.V717M) and c.2444C>T (p.S815L), were identified in trans in one individual diagnosed with early-onset colorectal cancer (CRC) who belonged to a family fulfilling clinical criteria for hereditary cancer. Clinico-pathological data, multifactorial likelihood calculations and functional analyses were used to refine their clinical significance. Likelihood analysis based on cosegregation and tumor data classified the c.2444C>T variant as pathogenic, which was supported by impaired MMR activity associated with diminished protein expression in functional assays. Conversely, the c.2149G>A variant displayed MMR proficiency and protein stability. These results, in addition to the conserved PMS2 expression in normal tissues and the absence of germline microsatellite instability (gMSI) in the biallelic carrier ruled out a CMMRD diagnosis. The use of comprehensive strategies, including functional and clinico-pathological information, is mandatory to improve the clinical interpretation of naturally occurring MMR variants. This is critical for appropriate clinical management of cancer syndromes associated to MMR gene mutations.