Rare human skin infection with Corynebacterium ulcerans: transmission by a domestic cat.

Corynebacterium ulcerans is mainly known for its ability to cause animal infections. Some strains of C. ulcerans produce diphtheria toxin, which can cause life-threatening cardiopathies and neuropathies in humans. Human cutaneous C. ulcerans infection is a very rare disease that mimics classical cutaneous diphtheria. We present a very rare case of a C. ulcerans skin infection caused by a non-diphtheria toxin-producing strain of C. ulcerans that resolved after 3 weeks of therapy with amoxicillin-clavulanate. A pet cat was the probable source of infection. The presence of C. ulcerans in the mouth of the cat was confirmed by 16S rRNA gene analysis and the API Coryne system. In cases of human infection with potentially toxigenic corynebacteria, it is important to determine the species and examine the isolate for diphtheria toxin production. If toxigenicity is present, diphtheria antitoxin should be administered immediately. Carriers and potential infectious sources of C. ulcerans include not only domestic livestock but also pet animals. For the primary prevention of disease caused by diphtheria toxin-producing corynebacteria, vaccination with diphtheria toxoid is recommended.

[A drug addict presenting with complicated tricuspid valve endocarditis]. / Komplikationsreiche Trikuspidalklappenendokarditis bei einem Drogenabhängigen.

The right-sided heart valves are affected in about 10% of patients with infective endocarditis. However, the tricuspid valve is the most frequently involved valve in intravenous drug users with infective endocarditis. When treated with antibiotics, the prognosis is considered favorable. Reported here is the case of a drug-addicted patient with polymicrobial (Staphylococcus aureus and Streptococcus pneumoniae) infective endocarditis of the tricuspid valve and a lethal outcome due to multiple organ failure. The indications and options to perform cardiac surgery in patients with infective endocarditis of the tricuspid valve are discussed.

Multilumen central venous catheters increase risk for catheter-related bloodstream infection: prospective surveillance study.

BACKGROUND: Catheter-related bloodstream infections (CRBSI) are a leading cause of nosocomial infections associated with significant mortality and costs. The objective of this study was to determine the rate of CRBSI in two large Swiss hospitals and to identify risk factors for this condition. PATIENTS AND METHODS: During 1 year all central venous catheter (CVC)-inserted in patients admitted for visceral, orthopedic or urologic surgery at the cantonal hospital in St Gallen and cantonal hospital in Chur were included in the study. Catheters were followed for the duration of their insertion. Blood cultures and semiquantitative cultures from catheters were drawn in the presence of local or systemic signs of infection. Primary endpoint was CRBSI defined as definite if (a) the same pathogen grew in at least one blood culture and from the distal segment of the catheter or (b) the same pathogen grew in at least one peripherally and centrally drawn blood culture and the differential time to positivity of central blood culture vs peripheral blood culture was > 120 min. CRBSI was defined as probable if at least one blood culture was positive with a recognized pathogen in the absence of another site of infection. Data were analyzed using univariate and multivariate time-to-event methods. RESULTS: During the study period, 1,396 CVCs were prospectively studied in 1,162 patients. Incidence density of all CRBSIs (definite n = 29, probable n = 7) was 2.5 (95% CI: 1.8-3.5) per 1,000 catheter-days. The lowest rate of CRBSI was found in subclavian catheters, the adjusted hazard ratio (HR) for jugular catheters was 2.2 (95% CI: 1.1- 4.3; p = 0.03) and for femoral catheters 2.9 (95% CI: 0.6-14.4; p = 0.19). Each additional lumen increased the risk (HR = 4.4; 95% CI: 2.5-7.7; p < 0.001), whereas the permanent blocking of additional lumens was protective (HR = 0.3; 95% CI: 0.1-0.7; p = 0.006). The most commonly isolated organism were coagulase-negative staphylococci with a rate of 28%. CONCLUSION: Number of lumens and site of access were independent risk factors for CRBSI. The use of catheters with multiple lumens should therefore be restricted as far as possible. If a catheter cannot be removed, the permanent closure of unneeded lumens may reduce the risk of CRBSI.

[Sepsis after pharyngitis]. / Sepsis nach einer Pharyngitis.

We report about a 36-year-old patient, who developped 4 days after a pharyngitis a sepsis with high temperature und recurrent vomiting. The chest radiograph showed multiple pulmonary abcesses and in the computed tomography additionally a thrombosis was detected in a communicans vein between the right jugularis anterior and the jugularis interna. This disease is commonly known as Lemierre Syndrom. The most common pathogen is the Fusobacterium necrophorum, but other bacteria of the normal oropharyngeal flora can also be the causative organisms. Given an adequate antibiotic therapy and supportive care, the prognosis is favourable.

[Influenza vaccination present and future]. / Grippeimpfung heute und morgen.

In healthy adults younger than 65 years the effectiveness of influenza vaccination is up to 90% for laboratory confirmed influenza, but is far less in elderly individuals over 65 years and those with comorbidities. However the vaccination in elderly people is effective in preventing complications of influenza infection: pneumonia, hospital admission and death from influenza or pneumonia. This effect is larger for elderly individuals living in nursing homes than in those living in the community. Recommendations at present include vaccination of all people over the age of 65, of high-risk groups, and of those who can transmit influenza to high-risk individuals (healthcare workers). Since 2005 it is recommended that people with occupational contact with wild or domestic birds should be vaccinated to reduce the risk of simultaneous infection with a human and an avian influenza virus. Influenza vaccination is considered to be safe: side effects are reversible within 1-2 days, severe complications are exceedingly rare. Most frequently inactivated vaccines are used, but in the USA there is also an attenuated live vaccine available. They all contain surface antigens of two influenza A strains and one influenza B strain. The world health organization (WHO) selects every year the strains to be included in the vaccine and the viruses are then grown on embryonated chicken eggs. This process requires detailed planning up to 6 months. Because a pandemic event cannot be predicted, this period is too long and there is an urgent need to develop techniques to reduce the vaccine production time and enhance its efficacy. Additionally, several researchers are exploring the possibility of generating a universal vaccine against influenza A virus that does not require reformulation on an annual basis.

Use of lung resection and voriconazole for successful treatment of invasive pulmonary Aspergillus ustus infection.

Invasive pulmonary aspergillosis (IPA) is a common infection in neutropenic patients and is associated with high mortality. Aspergillus ustus is a species that has only rarely been implicated in human disease. All reported cases of IPA due to A. ustus have been fatal. Here, we describe a case of invasive pulmonary A. ustus infection successfully treated with lung resection and voriconazole. A 43-year-old man with acute myeloid leukemia underwent two courses of chemotherapy and experienced prolonged neutropenia. Treatment with amphotericin B was given for persistent fever. While he was receiving amphotericin B, a progressive opacity developed in the upper right lobe. Lung tissue obtained through pulmonary wedge resection for histology showed a mold with septate hyphae, consistent with IPA due to Aspergillus. A. ustus was grown in culture. The patient was then treated with voriconazole and remained in remission of the mold infection in spite of additional chemotherapy and a leukemic relapse. In summary, this report describes the successful treatment of invasive pulmonary A. ustus infection by lung resection and antifungal treatment with voriconazole in a neutropenic patient.

RMRP gene sequence analysis confirms a cartilage-hair hypoplasia variant with only skeletal manifestations and reveals a high density of single-nucleotide polymorphisms.

Mutations in the RMRP gene that codes for an RNA subunit of the MRP RNAse complex are the cause of cartilage-hair hypoplasia (CHH; MIM 250250). We tested the hypothesis that recessive metaphyseal dysplasia without hypotrichosis (M1M 250460), a disorder presenting with short stature and metaphyseal dysplasia similar to CHH, but lacking hair anomalies, immunodeficiency and other extra skeletal features, might be allelic to CHH. We identified four mutation-carrying alleles segregating with the skeletal phenotype in two unrelated boys and their parents. One allele carried the common Finnish mutation +70A--> G; the remaining three carried +195C--> T, +238C--> T, and dupAAGCTGAGGACG at -2. Sequencing 120 alleles from a control group revealed an unusually high density of single-nucleotide polymorphisms in and around the RMRP gene: the biological significance of this finding is unclear. We conclude that recessive metaphyseal dysplasia without hypotrichosis is a variant of CHH, manifesting only as short stature and metaphyseal dysplasia. Precise diagnosis of this form of metaphyseal dysplasia is not without importance because of recessive inheritance with corresponding recurrence risk, as well as because of potential complications such as anaemia, susceptibility to infections and the increased likelihood of developing cancer. The short stature and metaphyseal changes associated with cone-shaped epiphyses of the hands should raise the diagnostic possibility of a CHH-related disorder that can then be confirmed by mutation analysis.

Diagnosis of skeletal dysplasia by multidisciplinary assessment: a report of two cases of thanatophoric dysplasia.

Skeletal dysplasias, a heterogeneous group of bone growth disorders, can be detected by routine prenatal ultrasound examination. As it is difficult to make a specific diagnosis, prediction of prognosis is of importance for obstetric management. In order to specify diagnosis, radiological, pathological and molecular genetic examination are often required. Our report describes two cases of thanatophoric dysplasia with different fetal sonographic findings. The classical classification of type I and II seems to be ambiguous as, in both cases, the same mutation in the fibroblast growth factor receptor 3 gene was found. The importance of comprehensive multidisciplinary assessment is emphasized.

[Postappendectomy abscess--the role of fecoliths]. / Postappendektomieabszess--die Rolle der Fäkolithen.

Intraabdominal abscess formation is the most common septical complication after perforated appendicitis. An appendiceal fecalith favours appendicitis and is a high risk for complications like perforation or abscess formation. In a 6 year period 554 patients have been treated operatively for appendicitis in our institution. In 4 patients, 6 to 12 1/2 years, operated for perforated appendicitis, a fecalith was initially overlooked. This unrecognised fecalith at operation led to an intraabdominal abscess 14 days up to 17 months postoperatively. After laparatomy with extraction of the fecalith, drainage of the abscess and antibiotical therapy all patients attained definitive healing. An appendicolith can escape into the abdominal cavity before or during appendectomy, causing complications. An unrecognised fecalith is a rare cause for intraabdominal abscess formation. Nevertheless in patients with an intraabdominal abscess after appendectomy a thorough radiological search for a fecalith by means of plain abdominal radiograph and abdominal ultrasound is mandatory. Surgical removal of the intraabdominal fecalith is the only way to definitive healing.

[Abscesses after appendectomy due to intraoperative retaining of fecalith]. / Abszesse nach Appendektomie durch intraoperativ verlorene Appendicolithen.

OBJECTIVE: Fecaliths appear to predispose a patient to acute appendicitis, abscess formation, and perforation. The number of preoperative radiological evaluations is increasing, although children with suspected perforation still undergo surgery immediately. We report and discuss imaging findings and implications in children with acute appendicitis and fecaliths. METHODS: Four children (3 girls, 1 boy; mean age 9 years) underwent surgery for acute appendicitis. Three children underwent sonography and plain radiography before surgery, 1 child was operated without radiological evaluation. After readmission, all 4 children underwent sonography and plain radiography before surgery. RESULTS: In 3 patients a fecalith was diagnosed initially. After uneventful recovery all 4 patients had acute abdominal pain and readmission was necessary. In all 4 patients the escaped fecalith was demonstrated with sonography and plain radiography confirmed surgically. CONCLUSION: Discussion about the role of imaging in acute appendicities has concentrated on the diagnostic yield of cross-section techniques. The importance of demonstrating a fecalith, prompting a more thorough intraoperative search has found little attention. The radiologist should also detect and localize a fecalith and should be aware of retained fecaliths as a cause of abscess formation after appendectomy.

Diagnostic and therapeutic impact of whole body positron emission tomography using fluorine-18-fluoro-2-deoxy-D-glucose in children with chronic granulomatous disease.

AIMS: To compare whole body positron emission tomography (PET) using fluorine-18-fluoro-2-deoxy-D-glucose (FDG) with computed tomography (CT) in detecting active infective foci in children with chronic granulomatous disease. METHODS: We performed 22 whole body FDG PET studies in seven children with X linked (n = 6) or autosomal recessive (n = 1) CGD. All had clinical signs of infection and/or were evaluated prior to bone marrow transplantation (BMT). Nineteen PET studies were also correlated with chest and/or abdominal CT. All PET scans were interpreted blinded to the CT findings. Diagnoses were confirmed histologically and bacteriologically. RESULTS: We detected 116 lesions in 22 FGD PETs and 126 lesions on 19 CTs. Only two of the latter could be classified reliably as active lesions by virtue of contrast enhancement suggesting abscess formation. PET excluded 59 lesions suspicious for active infection on CT and revealed 49 infective lesions not seen on CT. All seven active infective lesions were identified by PET, allowing targeted biopsy and identification of the infective agent followed by specific antimicrobial treatment, surgery, or subsequent BMT. CONCLUSIONS: Identification of infective organisms is more precise if active lesions are biopsied. CT does not discriminate between active and inactive lesions. Whole body FDG PET can be used to screen for active infective lesions in CGD patients.

Infantile systemic hyalinosis in siblings: clinical report, biochemical and ultrastructural findings, and review of the literature.

A boy presented at age 3.5 months with joint contractures, restlessness, and pain on handling. His skin was thickened and there were livid-red macular lesions over bony prominences. Infantile systemic hyalinosis (ISH) was diagnosed, a presumably autosomal recessive, progressive, and painful disorder of as yet unknown pathogenesis. Observation over three years confirmed the diagnosis as typical changes, such as nodules on both ears, pearly papules in the perinasal folds and on the neck, fleshy nodules in the perianal region, and gingival hypertrophy, developed. Skin lesions and painful joint contractures progressed in spite of intense physiotherapy, and at age 3, the child had marked motor disability. The central nervous system (CNS) appeared to be intact and the infant showed normal mental development. Radiologic findings included marked generalized osteopenia, osteolytic erosions in the metaphyses of the long bones, and cortical thinning. Electron microscopy of two skin biopsies demonstrated deposition of floccular amorphous substance that was abundant around, and appeared to originate from, small blood vessels in the dermis, partially interfering with collagen fiber formation. Lysosomal inclusions were not seen. Serum acid hyaluronidase activity was within the normal range, and the synthesis of hyaluronic acid and proteoglycans in cultured skin fibroblasts was similar to that of control cells. A younger sister presented at age two months with painful joint contractures and discrete livid-red macules over both malleoli, and showed a similar progression of the disorder over the first year of life. The diagnosis of ISH should be considered in infants and children presenting with painful joint contractures and skin lesions. The pathogenesis of this disabling and disfiguring disorder remains unclear. Our data confirm probable autosomal recessive inheritance, and do not support lysosomal storage, hyaluronidase deficiency, or a primary collagen disorder, but indicate that the amorphous material accumulating in the skin and articular soft tissues may originate from the blood circulation.

Posttraumatic dural sinus thrombosis in children.

Posttraumatic dural sinus thrombosis (DST) in children has rarely been described in the literature. Over a period of two years (1994-1996) we treated 131 children (n=131) with minor or severe head injury requiring a cranial computed tomography (CT) scan. DST was found in eight patients (6.1%), five with mild and three with severe cranial trauma. Diagnosis was suspected either because of a skull fracture crossing over a dural sinus or because of a hyperdensity at a dural sinus in the noncontrast CT scan. Enhanced CT scan was used to confirm DST. No specific symptoms related to DST were observed. DST was managed conservatively in all patients and recovery was uneventful. Recanalization of the sinus was documented to occur within three weeks to six months in six children. One patient showed a residual clot after five months and another did not have a follow-up CT scan. Based on our data we conclude that neither surgical nor medical intervention is indicated in traumatic DST in children.

Haemorrhagic shock and encephalopathy syndrome: report of two cases with special reference to hypoglycaemia.

Haemorrhagic shock and encephalopathy syndrome (HSES) is a devastating disorder affecting infants. So far no cases have been reported in Switzerland. It is characterised by the abrupt onset of hyperpyrexia, shock, encephalopathy, diarrhoea, disseminated intravascular coagulation (DIC) and renal and hepatic failure in previously healthy infants. Severe hypoglycaemia has been repeatedly reported in association with HSES. However, the pathophysiology of the hypoglycaemia is not clear. We report on two infants (2 and 7 months old) with typical HSES, both of whom were presented with nonketotic hypoglycaemia. In the first case, plasma insulin was 23 pmol/l at the time of hypoglycaemia (0.1 mmol/l). In the second case, increased values for interleukin-6 (IL-6) (319 pg/ml) and IL-8 (1382 pg/ml) were found 24 hours after admission, whereas IL-1 and tumour necrosis factor-alpha (TNF-alpha) were not measurable. Alpha-1-antitrypsin was decreased (0.6 g/l). In hyperpyrexic, unconscious and shocked infants, HSES should be considered and hypoglycaemia should be specifically looked for. Hypoglycaemia is not caused by hyperinsulinism but may be secondary to the release of cytokines.

Boy with syndactylies, macrocephaly, and severe skeletal dysplasia: not a new syndrome, but two dominant mutations (GLI3 E543X and COL2A1 G973R) in the same individual.

An unusual combination of syndactylies, macrocephaly, and severe skeletal dysplasia was observed in a newborn infant. A history of digital anomalies in the father and grandfather lead to the diagnosis of dominantly inherited Greig cephalopolysyndactyly syndrome (GCPS, MIM #175700). Having explained the digital findings and macrocephaly, the skeletal changes were thought to fit best congenital spondyloepiphyseal dysplasia (SEDC MIM #183900), a type II collagen disorder. Molecular analysis confirmed the presence of two dominant mutations in the propositus: a GLI3 mutation (E543X), which was present also in the father and grandfather, and a de novo COL2A1 mutation leading to a G973R substitution. Thus, this boy combined the syndactyly-macrocephaly phenotype of Greig cephalosyndactyly syndrome with a severe form of spondyloepiphyseal dysplasia caused by the structural defect in type II collagen. The diagnostic difficulties posed by the combination of two genetic disorders and the contribution of molecular diagnostics are well illustrated by this case.

The painful hip: evaluation of criteria for clinical decision-making.

UNLABELLED: Children with a painful hip present a diagnostic challenge since clinical differentiation between septic arthritis, transient synovitis and Perthes disease may be difficult. Septic arthritis, a potentially life-threatening and debilitating medical emergency, requires early recognition for successful treatment, while transient synovitis and Perthes disease may be managed conservatively. An "ideal" single test for discrimination between these conditions is currently not available. We assessed the value of clinical examination and simple laboratory tests together with radiography and hip ultrasound in differentiating septic arthritis from transient synovitis and Perthes disease by analyzing the records of 89 children treated at our institution for hip pain. Ultrasound, radiographs, laboratory, clinical, and follow-up data were available for all the children. Diagnoses were made according to established criteria. Transient synovitis was present in 64 patients, septic arthritis in 8 (of whom 2 had additional osteomyelitis), and Perthes disease in 4. All children with septic arthritis had hip effusion shown by ultrasound and at least two of the following criteria: fever, elevation of erythrocyte sedimentation rate (ESR) and of C-reactive protein (CRP). None of the children without effusion on ultrasound or who lacked two or all criteria had septic arthritis. Radiographs had no significant impact on the decision-making in primary evaluation of acute hip pain. CONCLUSION: We conclude that investigation of painful hips in children, based on hip ultrasound, body temperature, ESR and CRP, may allow cases for hip joint aspiration to be selected efficiently and may reduce the number of radiographs and hospital admissions.