Respiratory distress syndrome in near-term babies after caesarean section

OBJECTIVE: Severe respiratory distress syndrome (RDS) caused by surfactant deficiency is described not only in preterm infants but also in (near-) term babies after caesarean section (CS), especially when carried out before the onset of labour. The aim of the present study was to document the severity of this theoretically avoidable entity in order to improve obstetric and perinatal care. PATIENTS: All neonates admitted to the paediatric intensive care unit of the University Hospital of Bern between 1988 and 2000 with RDS on the basis of hyaline membrane disease (HMD) needing mechanical ventilation (MV) after CS and with a birthweight > or = 2500 g were analysed. HMD was diagnosed when respiratory distress and the typical radiological signs were present. Patients were grouped into elective CS before onset of labour and before rupture of membranes (group 1, n = 34) and patients delivered by emergency CS or CS after onset of labour or rupture of membranes (group 2, n = 22). Analysed indices for severity of illness were duration of stay in intensive care unit and MV, ventilation mode, worst oxygenation index (OI), presence of pulmonary air leak, and systemic hypotension. RESULTS: Mean gestational age (GA) was 37 2/7 weeks in group 1 and 36 2/7 weeks in group 2; no patient had a GA of > or = 39 0/7 weeks. Duration of MV was 4.4 days in group 1 and 3.9 days in group 2. Thirteen patients (38%) of group 1 and 7 (32%) of group 2 had to be managed by rescue high-frequency ventilation. A total of 7 patients had an OI>40. Eight patients (24%) in group 1 and 4 (18%) in group 2 developed a pulmonary air leak. Fourteen neonates (41%) in group 1 had to be supported by catecholamines versus 5 (22%) in group 2. There was one death in group 1. CONCLUSION: Severe RDS on the basis of HMD can also occur in near-term babies after CS; even a fatal outcome can not be excluded. The severity of illness in elective CS without labour may be quite high and is comparable to newborns delivered by CS (after onset of labour and/or rupture of the membranes) who were 1 week younger. No case of HMD was found in our population when CS was carried out after completion of 39 post-menstrual weeks of gestation.

A Targeted Survey for Scrapie in Jos Plateau State, Nigeria

Scrapie, a disease of sheep and goats with a progressive course and fatal outcome, has not been identified in Nigeria. Anecdotal scrapie reports by livestock workers abound. Livestock diseases like scrapie form huddles in livestock economics of countries. For 8 months we surveyed for scrapie targeting emergency/casualty slaughter sheep and goats in Jos, Nigeria. We clinically examined 510 sheep and 608 goats of local breeds, aged from 12 months to 5 years. In total 31 (5.10%) goats and no sheep were clinically suspicious for scrapie. Caudal brainstem tissues of suspect animals collected postmortem were analyzed for the disease specific form of the prion protein, PrPSc, using Bio-Rad’s TeSeE ELISA rapid test kit. No sample was positive for scrapie. Fluorescent antibody test for rabies and H&E staining on samples were carried out for differential diagnosis. These showed no pathological lesions indicative for neurological disease. While our findings do not exclude the presence of scrapie in Jos, we demonstrate that targeted sampling of small ruminants for neuroinfectious disease is feasible in developing countries, pointing to the possibility of implementing such a monitoring scheme in Nigeria to prevent economic losses in small ruminant livestock as scrapie caveats from endemic countries have shown.

Progressive multifocal leukoencephalopathy in a patient without apparent immunosuppression.

An 80-year-old man with no history of an immune-compromising disorder was diagnosed with progressive multifocal leukoencephalopathy (PML). He presented with dysphagia and left-sided weakness; magnetic resonance imaging demonstrated marked signal abnormality in the subcortical white matter of the left frontal lobe and in the posterior limb of the right internal capsule. Polymerase chain reaction (PCR) analysis of the cerebrospinal fluid (CSF) was negative for John Cunningham (JC) virus. On brain biopsy, foamy macrophages infiltrating the white matter were identified, staining positive for anti-simian virus 40 antibodies. Postoperatively, PCR for JC viral DNA in the CSF was positive, establishing the diagnosis of PML. Extensive investigation for an occult immunocompromising disorder was negative. The patient's neurologic deficits rapidly increased throughout his hospital stay, and he died 3.5 months after his diagnosis.

Clinical and microbiological aspects of linezolid resistance mediated by the cfr gene encoding a 23S rRNA methyltransferase.

The cfr (chloramphenicol-florfenicol resistance) gene encodes a 23S rRNA methyltransferase that confers resistance to linezolid. Detection of linezolid resistance was evaluated in the first cfr-carrying human hospital isolate of linezolid and methicillin-resistant Staphylococcus aureus (designated MRSA CM-05) by dilution and diffusion methods (including Etest). The presence of cfr was investigated in isolates of staphylococci colonizing the patient's household contacts and clinical isolates recovered from patients in the same unit where MRSA CM-05 was isolated. Additionally, 68 chloramphenicol-resistant Colombian MRSA isolates recovered from hospitals between 2001 and 2004 were screened for the presence of the cfr gene. In addition to erm(B), the erm(A) gene was also detected in CM-05. The isolate belonged to sequence type 5 and carried staphylococcal chromosomal cassette mec type I. We were unable to detect the cfr gene in any of the human staphylococci screened (either clinical or colonizing isolates). Agar and broth dilution methods detected linezolid resistance in CM-05. However, the Etest and disk diffusion methods failed to detect resistance after 24 h of incubation. Oxazolidinone resistance mediated by the cfr gene is rare, and acquisition by a human isolate appears to be a recent event in Colombia. The detection of cfr-mediated linezolid resistance might be compromised by the use of the disk diffusion or Etest method.

Real-Time RT-PCR for the Detection of Lyssavirus Species

The causative agents of rabies are single-stranded, negative-sense RNA viruses in the genus Lyssavirus of Rhabdoviridae, consisting of twelve classified and three as yet unclassified species including classical rabies virus (RABV). Highly neurotropic RABV causes rapidly progressive encephalomyelitis with nearly invariable fatal outcome. Rapid and reliable diagnosis of rabies is highly relevant for public and veterinary health. Due to growing variety of the genus Lyssavirus observed, the development of suitable molecular assays for diagnosis and differentiation is challenging. This work focused on the establishment of a suitable real-time RT-PCR technique for rabies diagnosis as a complement to fluorescent antibody test and rabies tissue culture infection test as gold standard for diagnosis and confirmation. The real-time RT-PCR was adapted with the goal to detect the whole spectrum of lyssavirus species, for nine of which synthesized DNA fragments were used. For the detection of species, seven probes were developed. Serial dilutions of the rabies virus strain CVS-11 showed a 100-fold higher sensitivity of real-time PCR compared to heminested RT-PCR. Using a panel of thirty-one lyssaviruses representing four species, the suitability of the protocol could be shown. Phylogenetic analysis of the sequences obtained by heminested PCR allowed correct classification of all viruses used.

Estimating sequestered parasite population dynamics in cerebral malaria

Clinical investigation of malaria is hampered by the lack of a method for estimating the number of parasites that are sequestered in the tissues, for it is these parasites that are thought to be crucial to the pathogenesis of life-threatening complications such as cerebral malaria. We present a method of estimating this hidden population by using clinical observations of peripheral parasitemia combined with an age-structured mathematical model of the parasite erythrocyte cycle. Applying the model to data from 217 Gambian children undergoing treatment for cerebral malaria we conclude that although artemether clears parasitemia more rapidly than quinine, the clearance of sequestered parasites is similar for the two drugs. The estimated sequestered mass was found to be a more direct predictor of fatal outcome than clinically observed parasitemia. This method allows a sequential analysis of sequestered parasite population dynamics in children suffering from cerebral malaria, and the results offer a possible explanation for why artemether provides less advantage than might have been expected over quinine in reducing mortality despite its rapid effect on circulating parasites.

Studies of the nature of Burkholderia cepacia in cystic fibrosis

Burkholderia cepacia is an opportunistic pathogen that colonises of the lungs of cystic fibrosis (CF) patients, with a frequently fatal outcome. Antibiotic resistance is common and highly transmissible epidemic strains have been described in the UK. 37 B. cepacia isolates from clinical and botanical sources were characterised via metabolic capabilities, antibiotic sensitivity, fatty acid methyl ester (FAME) profiles restriction digest analysis of chromosomal DNA by pulsed-gel electrophoresis (PFGE) (with the use of two separate restriction enzymes) and outer membrane protein (OMP) profiles. This revealed isolates of the UK CF epidemic strain to form a distinct group with a specific OMP profile. Cluster analysis of PFGE and FAME profiles revealed the species Burkholderia gladioli and Burkholderia vietnamiensis to be more closely related to each other and to laboratory strains of B. cepacia than to the CF epidemic strain considered a member of the latter species. The epidemic strain of B. cepacia may therefore be worthy of species definition in its own right. All the strains studied showed a high level of resistance to antibiotics, including the carbapenems. Considering this, carbapenemase production by isolates of B. cepacia was investigated. A metallo-β-lactamase from a clinical strain of B. cepacia was isolated and partially purified of using Cibacron blue F3GA-coupled agarose. The resulting preparation showed a single band of β-lactamase activity (pI 8.45) after analytical isoelectric focusing. The enzyme was particularly effective in the hydrolysis of imipenem. Meropenem, biapenem, cephaloridine, ceftazidime, benzylpenicillin, ampicillin and carbenicillin were hydrolysed at a lower rate. An unusual inhibition profile was noted. Inhibition by the metal ion chelators ethylene diamine tetra acetic acid and o-phenanthroline was reversed by addition of zinc, indicating a metallo-enzyme, whilst >90% inhibition was attainable with 0.1mM concentrations of tazobactam and clavulanic acid. A study of 8 other clinical isolates showed an enzyme of pI 8.45 to be present and inducible by imipenem in each case. This enzyme was assigned PCM-I (Pseudomonas cepacia metalloenzyme I).

Two new 3' PML breakpoints in t(15;17)(q22;q21)-positive acute promyelocytic leukemia.

In the present article, two new types of PML/RARA junctions are described. Both were identified in diagnostic samples from two t(15;17)(q22;q21)-positive acute promyelocytic leukemia (APL) patients who failed to achieve complete remission. By using different sets of primers, reverse transcriptase polymerase chain reaction (RT-PCR) of PML/RARA junctions showed atypical larger bands compared with those generated from the three classical PML breakpoints already described. Sequence analysis of the fusion region of the amplified cDNAs allowed us to determine the specificity of these fragments in both patients. This analysis showed two new hybrid transcripts that were 53 and 306 base pairs (bp) longer than that expressed by the NB4 cell line (PML breakpoint within intron 6), and are the result of the direct joining of RARA exon 3 with PML exon 7a (patient 2) or the 5' portion of PML exon 7b (patient 1), respectively. In patient 1, RT-PCR analysis of the reciprocal RARA/PML junction showed a smaller transcript than that expected in bcr1 cases, while in patient 2 no amplified fragment was obtained. Cytogenetic analysis and/or fluorescence in situ hybridization (FISH) showed that both patients had the t(15;17) translocation. The clinical and hematological profiles expressed by the two patients carrying these unexpected types of PML/RARA rearrangement did not differ significantly from that commonly seen in other APLs with the exception of the poor outcome. Genes Chromosomes Cancer 27:35-43, 2000.

Progressive Multifocal Leukoencephalopathy and Systemic Lupus Erythematosus: Focus on Etiology

Progressive multifocal leukoencephalopathy (PML) caused by reactivation of the JC virus (JCV), a human polyomavirus, occurs in autoimmune disorders, most frequently in systemic lupus erythematosus (SLE). We describe a HIV-negative 34-year-old female with SLE who had been treated with immunosuppressant therapy (IST; steroids and azathioprine) since 2004. In 2011, she developed decreased sensation and weakness of the right hand, followed by vertigo and gait instability. The diagnosis of PML was made on the basis of brain MRI findings (posterior fossa lesions) and JCV isolation from the cerebrospinal fluid (700 copies/ml). IST was immediately discontinued. Cidofovir, mirtazapine, mefloquine and cycles of cytarabine were sequentially added, but there was progressive deterioration with a fatal outcome 1 year after disease onset. This report discusses current therapeutic choices for PML and the importance of early infection screening when SLE patients present with neurological symptoms. In the light of recent reports of PML in SLE patients treated with rituximab or belimumab, we highlight that other IST may just as well be implicated. We conclude that severe lymphopenia was most likely responsible for JCV reactivation in this patient and discuss how effective management of lymphopenia in SLE and PML therapy remains an unmet need.

Whipple’s disease infection surgical treatment: presentation of a rare case and literature review

The Whipple’ Disease (W.D.) is a very rare disease with an incidence of 1 per 1.000.000 inhabitants; it is a systemic infection that may mimic a wide spectrum of clinical disorders, which may have a fatal outcome and affects mainly male 40-50 years old. The infective agent is an actinomycete, Tropheryma Whipplei (T.W.) that was isolated 100 years after first description by Wipple, and identified in macrophages of mucosa of the small intestine by biopsy which is characterized by periodic acid-Schiff-positive, products of the inner membrane of his polysaccharide bacterial cell wall. The multisystemic clinical manifestations evolve rapidly towards an organic decay characterized by weight loss, malabsorption, diarrhea, polyathralgia, opthalmoplegia, neuro-psychiatric disorders and sometimes associated to endocarditis. Early antibiotic treatment with trimethoprim and sulfometathaxazole reduces the fatal evolution of the disease. The authors present a rare experience about a female subject in which the clinical gastrointestinal signs were preceded by neuro-psychiatric disorders, and evolved into obstruction and intestinal perforation which required an emergency surgery with temporary ileostomy, recanalized only after adequate medical treatment with a full dose of antibiotic and resolution of clinical disease for the high risks of fistulae for the edema and lymphadenopathy of mucosa. The diagnosis was histologically examined by intestinal biopsy performed during surgery, which showed PAS-positive histiocytes, while PRC polymerase RNA was negative, which confirms the high sensibility of PAS positive and low specificity of RNA polymerase for T.W.

Spontaneous Dissection of the Renal Artery in Vascular Ehlers-Danlos Syndrome

Ehlers-Danlos syndrome (EDS) is a rare heterogeneous group of connective tissue disorders. The vascular type (vEDS) is an autosomal dominant disorder caused by heterozygous mutations in the COL3A1 gene predisposing to premature arterial, intestinal, or uterine rupture. We report a case of a 38-year-old woman with a recent diagnosis of vEDS admitted in the Emergency Department with a suspicion of a pyelonephritis that evolved to a cardiopulmonary arrest. A fatal retroperitoneal hematoma related with a haemorrhagic dissection of the right renal artery was found after emergency surgery. This case highlights the need to be aware of the particular characteristics of vEDS, such as a severe vascular complication that can lead to a fatal outcome.

A Novel Noonan Syndrome RAF1 Mutation: Lethal Course in a Preterm Infant

Noonan syndrome is a relatively common and heterogeneous genetic disorder, associated with congenital heart defect in about 50% of the cases. If the defect is not severe, life expectancy is normal. We report a case of Noonan syndrome in a preterm infant with hypertrophic cardiomyopathy and lethal outcome associated to acute respiratory distress syndrome caused by Adenovirus pneumonia. A novel mutation in the RAF1 gene was identified: c.782C>G (p.Pro261Arg) in heterozygosity, not described previously in the literature. Consequently, the common clinical course in this mutation and its respective contribution to the early fatal outcome is unknown. No conclusion can be established regarding genotype/phenotype correlation.

Dor abdominal em adolescente

Doente do sexo feminino de 16 anos de idade, recorreu ao serviço de urgência por dor abdominal com duas semanas de evolução localizada à fossa ilíaca esquerda (FIE) associada a obstipação. Negava atividade sexual, referindo último cataménio três semanas antes. Apresentava palpação abdominal dolo- rosa na FIE, sem defesa ou sinais de irritação peritoneal. Estudo analítico inicial e exame sumário de urina normais. Ecografia abdomino-pélvica revelou quisto complexo na região anexial esquerda e ascite de médio volume. Foi doseada a hormona gonadotrofina coriónica sérica que foi positiva (2608 mUI/mL). A ecografia transvaginal revelou quisto simples com área adjacente de aspeto reticular, não evidenciando qualquer imagem de saco gestacional intrauterino. Foi submetida a laparotomia exploradora, constatando-se hemoperitoneu e gravidez ectópica tubar esquerda e efetuada salpingectomia esquerda. Os autores pretendem alertar para uma causa rara de dor abdominal na adolescência, que deverá ser considerada de for- ma a evitar um desfecho potencialmente fatal.

Contribuição para a identificação de indicadores de risco no prognóstico da pancreatite em canídeos : estudo retrospetivo de 22 casos

Dissertação de Mestrado Integrado em Medicina Veterinária

Factores asociados a la mortalidad en el síndrome de Sjögren

Antecedentes: El síndrome de Sjögren (SS) es una patología crónica, autoinmune, de características multifactoriales en su etiología. También es conocida como una epitelitis autoinmune, caracterizada por síntomas secos como xeroftalmia y xerostomía, pero que también puede tener compromiso sistémico, dado por manifestaciones extra-glandulares. En la actualidad es poco reconocida como tal, y por lo tanto, la tasa de sobrevida en estos pacientes se encuentra disminuida pero poco tenida en cuenta a la hora de la valoración de ellos. Este trabajo describe la evidencia encontrada acerca de las causas de mortalidad y sus factores asociados luego de realizar una revisión sistemática de la literatura. Objetivos: El objetivo de este estudio fue reunir de forma exhaustiva y sistemática toda la evidencia empírica, publicada o no, que cumpla los criterios de búsqueda y elegibilidad sobre factores asociados al incremento de la mortalidad o disminución en la sobrevida de los pacientes con diagnóstico de SS. Métodos: Se realizó una revisión sistemática de la literatura mediante una búsqueda exhaustiva de todos los estudios publicados en las bases de datos electrónicas preestablecidas, hasta abril de 2015, con el fin de determinar las causas más frecuentes de mortalidad en pacientes con SS y los factores asociados a ella. Resultados: Se encontraron 4,654 resultados que coincidían con los criterios de búsqueda establecidos; de estos, 33 cumplieron con los criterios de inclusión y se distribuyeron de la siguiente forma: el 66.6% (22/33) correspondieron a estudios de corte cohorte, 30.3% (10/33) a estudios de corte transversal y el 3.03% (1/33) a estudios casos y controles. Se obtuvieron resultados en cuanto a frecuencias de mortalidad, razón estandarizada de mortalidad, tasas de supervivencia, causas más frecuentes de mortalidad y sus factores asociados. Conclusiones: La mortalidad reportada en los diferentes estudios fue entre el 1.2% hasta el 30%. Aquellos estudios que reportaron una tasa de mortalidad inferior al 5%, tuvieron un tiempo de seguimiento menor 8 años [1,7,33,60,64,86]. La mayoría de los casos sigue un curso relativamente estable, pero hay un porcentaje importante que presenta otras manifestaciones sistémicas con mayor frecuencia de complicaciones durante la evolución del SS. Por tanto, son los que requieren un seguimiento más estrecho, debido a una mayor necesidad de tratamiento sistémico y al mayor riesgo de ingreso hospitalario y de mortalidad, especialmente por el desarrollo de procesos linfoproliferativos B. La presencia de factores pronósticos en el paciente con SS obligará a realizar un seguimiento clínico e inmunológico mucho más estrecho, lo cual permitirá identificar lo antes posible las complicaciones que puedan aparecer e instaurar las correspondientes medidas terapéuticas, para aumentar las tasas de supervivencia.