[A clear cerebrospinal fluid - but an unclear diagnosis]. / Liquor klar ­ Diagnose (un)klar.

HISTORY: A 35-year-old, previously healthy woman presented with short history of headache and fever. Several other family members reported active hand, foot, and mouth disease. FINDINGS: Clinical findings showed subfebrile temperatures and a prominent meningism. Cerebrospinal fluid and computed tomography of the head were unrevealing. Subsequent PCR-analysis of the cerebrospinal fluid was positive for Enteroviral-RNA. DIAGNOSIS AND THERAPY: Enteroviral-meningitis was diagnosed. The empirically administered antimicrobial therapy was stopped and further diagnostic tests could be withheld. COURSE: Symptom-oriented therapy resulted in complete resolution within the next few days. CONCLUSIONS: Our case emphasizes that, in patients with typical signs of meningeal irritation, normal cellular analysis of the cerebrospinal fluid does not exclude the presence of infectious meningitis. The astute clinician should be reminded that this constellation is highly suggestive of enteroviral meningitis.

Secondary attack rates from asymptomatic and symptomatic influenza virus shedders in hospitals: Results from the TransFLUas influenza transmission study.

OBJECTIVE: Nosocomial transmission of influenza is a major concern for infection control. We aimed to dissect transmission dynamics of influenza, including asymptomatic transmission events, in acute care. DESIGN: Prospective surveillance study during 2 influenza seasons. SETTING: Tertiary-care hospital. PARTICIPANTS: Volunteer sample of inpatients on medical wards and healthcare workers (HCWs). METHODS: Participants provided daily illness diaries and nasal swabs for influenza A and B detection and whole-genome sequencing for phylogenetic analyses. Contacts between study participants were tracked. Secondary influenza attack rates were calculated based on spatial and temporal proximity and phylogenetic evidence for transmission. RESULTS: In total, 152 HCWs and 542 inpatients were included; 16 HCWs (10.5%) and 19 inpatients (3.5%) tested positive for influenza on 109 study days. Study participants had symptoms of disease on most of the days they tested positive for influenza (83.1% and 91.9% for HCWs and inpatients, respectively). Also, 11(15.5%) of 71 influenza-positive swabs among HCWs and 3 (7.9%) of 38 influenza-positive swabs among inpatients were collected on days without symptoms; 2 (12.5%) of 16 HCWs and 2 (10.5%) of 19 inpatients remained fully asymptomatic. The secondary attack rate was low: we recorded 1 transmission event over 159 contact days (0.6%) that originated from a symptomatic case. No transmission event occurred in 61 monitored days of contacts with asymptomatic influenza-positive individuals. CONCLUSIONS: Influenza in acute care is common, and individuals regularly shed influenza virus without harboring symptoms. Nevertheless, both symptomatic and asymptomatic transmission events proved rare. We suggest that healthcare-associated influenza prevention strategies that are based on preseason vaccination and barrier precautions for symptomatic individuals seem to be effective.

[The basics of lysosomal storage diseases]. / Die Grundlagen der lysosomalen Speicherkrankheiten.

The basics of lysosomal storage diseases Abstract. Lysosomal storage diseases are comprised of a group of more than 50 genetic disorders which are characterized by a defective lysosomal function. The lysosome is the recycling plant of the cell. Most of the lysosomal storage diseases are caused by a deficient hydrolase. The disturbed metabolism leads to accumulation of complex molecules. The classic classification is by the main storage molecule: Sphingolipidoses, Mucopolysaccharidoses and Glycoproteinosis. The modern classification stretches the definition and includes every disease that has a defect in a lysosomal component, which is needed for the normal function of the lysosome. That component includes lysosomal membrane proteins, activator proteins, transport proteins or non-lysosomal proteins. Lysosomal storage disease are rare diseases with a total incidence of 16 cases in 100'000 live births. Results of screening studies are hinting an underestimation of the real incidence. The most frequent lysosomal storage diseases are Gaucher's disease and Fabry's disease, two Sphingolipidoses. The similarity respective the symptoms of lysosomal storage diseases are the systemic manifestations and common cerebral involvement. The occurrence of the symptoms in the different lysosomal storage diseases are very different. The pathophysiological processes are versatile, the simple concept of overload and consecutive destruction of the cell is overdue. Over time a number of therapeutic approaches have been introduced: the substitution of the enzyme by enzyme replacement therapy, gene therapy or hematopoietic stem cell transplantation, stabilizing of the defective enzyme by pharmacologic chaperone or the decrease of the substrate by substrate reduction therapy.

[Fabry disease - the profile of an orphan disease]. / Morbus Fabry ­ das Porträt einer seltenen Erkrankung.

Fabry disease - the profile of an orphan disease Abstract. Fabry disease is a lysosomal storage disease, characterized by a deficient lysosomal function. The main pathophysiological mechanism is the deficiency of the enzyme α-galactosidase A. As a result, an accumulation of the substrate globotriaosylceramide occurs in tissues of affected patients. Fabry disease is a X chromosome-linked disease, hence women with one allele often show only mild symptoms. Frequent and unspecific initial symptoms in childhood include acroparesthesias, hypo- and anhidrosis, and angiokeratoma. Life-threatening complications such as progressive kidney insufficiency, cardiomyopathy, and cerebrovascular insult manifest only in later adulthood. The diagnosis requires the measurement of the α-galactosidase A activity in blood plasma or white blood cells. Approved therapeutic methods are the enzyme-replacement therapy and pharmacologic chaperone.

[Gaucher's disease - an overview about a sphingolipidosis]. / Morbus Gaucher ­ ein Überblick über eine Sphingolipidose.

Gaucher's disease - an overview about a sphingolipidosis Abstract. Gaucher's disease is a sphingolipidosis which results from an insufficient production of the enzyme glucocerebrosidase, a lysosomal hydrolase. Glucocerebrosides accumulate particularly in macrophages. There are three types of Gaucher's disease: type 1 shows primarily visceral, hematological and skeletal manifestations. It is the most common type. The types 2 and 3 are rarer and more associated with additional neurologic symptoms. The typical findings are hepatosplenomegaly, hematopoietic diseases and skeletal dysfunctions, caused by the infiltration of the spleen and bone marrow by the glucocerebrosid - loaded macrophages. Dependending on the disease progression, the first symptoms arise in childhood or in adulthood. For the diagnostic of Gaucher's disease, the glucocerebrosidase activity in white blood cells is measured. The intravenous enzyme replacement therapy is effective.