[Initial examination and screening of migrants : What makes sense and what is evidence-based?]. / Erstuntersuchung und Screening von Migranten : Was ist sinnvoll, was ist evidenzbasiert?

The medical treatment of migrants and refugees has recently become an important topic in the German healthcare system due to the large numbers of migrants. Healthcare for migrants includes treatment of acute illnesses and trauma on arrival, screening for chronic communicable and non-communicable diseases and in the long term, the integration into the local healthcare system. As health problems of migrants are diverse and dependent on the region of origin, guidelines should be readily available for all healthcare professionals involved in migrant healthcare. A literature search for comprehensive guidelines for screening and treatment of migrant's health problems detected 47 different guidelines including 2 comprehensive ones from the US Centers of Disease Control and Prevention and the Canadian Collaboration for Immigrant and Refugee Health. Comparative analysis of these guidelines could be a starting point for evidence-based European guidelines on migrant health.

A recurrent single-amino acid deletion (p.Glu500del) in the head domain of ß-cardiac myosin in two unrelated boys presenting with polyhydramnios, congenital axial stiffness and skeletal myopathy.

BACKGROUND: Alterations in the MYH7 gene can cause cardiac and skeletal myopathies. MYH7-related skeletal myopathies are extremely rare, and the vast majority of causal variants in the MYH7 gene are predicted to alter the rod domain of the of ß-cardiac myosin molecule, resulting in distal muscle weakness as the predominant manifestation. Here we describe two unrelated patients harboring an in-frame deletion in the MYH7 gene that is predicted to result in deletion of a single amino acid (p.Glu500del) in the head domain of ß-cardiac myosin. Both patients display an unusual skeletal myopathy phenotype with congenital axial stiffness and muscular hypertonus, but no cardiac involvement. RESULTS: Clinical data, MRI results and histopathological data were collected retrospectively in two unrelated boys (9 and 3.5 years old). Exome sequencing uncovered the same 3-bp in-frame deletion in exon 15 (c.1498_1500delGAG) of the MYH7 gene of both patients, a mutation which deletes a highly conserved glutamate residue (p.Glu500del) in the relay loop of the head domain of the ß-cardiac myosin heavy chain. The mutation occurred de novo in one patient, whereas mosaicism was detected in blood of the father of the second patient. Both boys presented with an unusual phenotype of prenatal polyhydramnios, congenital axial stiffness and muscular hypertonus. In one patient the phenotype evolved into an axial/proximal skeletal myopathy without distal involvement or cardiomyopathy, whereas the other patient exhibited predominantly stiffness and respiratory involvement. We review and compare all patients described in the literature who possess a variant predicted to alter the p.Glu500 residue in the ß-cardiac myosin head domain, and we provide in-silico analyses of potential effects on polypeptide function. CONCLUSION: The data presented here expand the phenotypic spectrum of mutations in the MYH7 gene and have implications for future diagnostics and therapeutic approaches.

Prevalence of comorbidities, and affective disorders in epilepsy: A latent class analysis approach.

OBJECTIVE: Epilepsies are severe chronic neurological diseases that impair several domains in life and are often accompanied by various somatic and psychiatric comorbidities. Associations between epilepsy and its comorbidities remain poorly understood. As epidemiological research mainly relies on cross-sectional designs and descriptive results, homogeneities regarding comorbidities in individuals suffering from epilepsy remain uncovered. Therefore, we aimed to identify clusters of individuals based on selected seizure-related variables and somatic comorbidities, and their respective risk of experiencing affective disorders, using a Latent Class Analysis (LCA). METHODS: Latent class analysis, is a model-driven statistical approach, which aims at latent, unobservable clusters on selected disease features. LCA has therefore the potential for uncovering previously unobservable groups or classes with similar comorbidity patterns. It allows for comparisons between those classes regarding risk or promotive factors - such as affective disorders. Our data derives from the Austrian cohort of the European Study on Burden and Care of Epilepsy (ESBACE; http://www.esbace.eu/). In ESBACE, multiple factors were collected to get a detailed picture on prevalence, epilepsy-related variables and comorbidities in a population-based cohort from the region of Salzburg, Austria. We used LCA to identify epilepsy-somatic-comorbidity-clusters and further, compared them to the observed the risk of suffering from affective disorders. RESULTS: The prevalence of epilepsy in the study region was 9.14/1000 inhabitants. LCA unveiled a three-cluster solution, of which one cluster, mainly consisting of individuals with mixed seizure types, higher age, and discrete somatic comorbidities (stroke, cardiovascular - and respiratory/pulmonary diseases) had a higher risk of experiencing affective disorders. SIGNIFICANCE: To our knowledge, this is the first large scale study that uses LCA to identify epilepsy-related comorbidity phenotypes, and therefore it might open a new way for epidemiological research.

Leigh disease with brainstem involvement in complex I deficiency due to assembly factor NDUFAF2 defect.

Mitochondrial NADH: ubiquinone oxidoreductase (complex I) deficiency accounts for most defects in mitochondrial oxidative phosphorylation. Pathogenic mutations have been described in all 7 mitochondrial and 12 of the 38 nuclear encoded subunits as well as in assembly factors by interfering with the building of the mature enzyme complex within the inner mitochondrial membrane. We now describe a male patient with a novel homozygous stop mutation in the NDUFAF2 gene. The boy presented with severe apnoea and nystagmus. MRI showed brainstem lesions without involvement of basal ganglia and thalamus, plasma lactate was normal or close to normal. He died after a fulminate course within 2 months after the first crisis. Neuropathology verified Leigh disease. We give a synopsis with other reported patients. Within the clinical spectrum of Leigh disease, patients with mutations in NDUFAF2 present with a distinct clinical pattern with predominantly brainstem involvement on MRI. The diagnosis should not be missed in spite of the normal lactate and lack of thalamus and basal ganglia changes on brain MRI.

Pontine tegmental cap dysplasia: the severe end of the clinical spectrum.

Pontine tegmental cap dysplasia (PTCD) is a newly described hindbrain malformation with distinct neuroradiological findings. Only 12 cases of PTCD have been described so far, all sporadic. We report 2 further patients. Both children presented after birth with significant feeding problems due to impaired mouth opening (previously not reported) and sucking difficulties. Facial, cochlear, and glossopharyngeal nerves were involved resulting in bilateral sensory deafness and a significant swallowing disorder requiring a gastrostomy. In one patient the trigeminal sensory nerve was also involved causing severe bilateral corneal clouding with impaired vision. Both patients showed only minimal developmental progress since birth and had no speech production. Furthermore, they had vertebral and rib anomalies. The patients died at the age of 15 and 32 months, respectively, due to intercurrent infections. The majority of patients reported previously were affected less severely. The presented patients may represent the severe end of the spectrum.

[The microbiome of the gut in critically ill patients]. / Das Mikrobiom des Darms beim kritisch kranken Patienten.

BACKGROUND: The complexity and diversity of the human intestinal microbiome has only recently been characterized. The multiple metabolic and immunologic effects of the bacterial flora have demonstrated the symbiosis between the microbiome and its host. This symbiosis is disturbed in a multitude of diseases, especially in critically ill patients. OBJECTIVES: A review of the changes in the intestinal microbiome of critically ill patients and the use of probiotics. MATERIAL AND METHODS: Nonsystematic literature search in PubMed on the topics: (1) changes in the intestinal microbiome in critically ill patients, (2) interventions using probiotics in critically ill patients, and (3) use of fecal transplantation in Clostridium difficile colitis. RESULTS: Trauma, sepsis, systemic inflammatory response syndrome, and other conditions lead to shifts in the composition of the intestinal microbiome, which are correlated with clinical outcome. The most obvious change is a profound loss of obligate anaerobe bacteria, leading also to metabolic changes. Probiotics have been used in several studies and show efficacy in the reduction of infectious complication but not in overall mortality. C. difficile colitis as the model disease for a disturbed microbiome can be treated effectively by transfer of donor feces, which also restores the diversity of the microbiome. CONCLUSION: Taking into account the successful intervention of fecal transplantation on the intestinal microbiome, new products developed using the current knowledge of the intestinal microbiome could be more effective.

Malnutrition among the elderly.

Nutrition is a significant determinant of health. Undernutrition presenting as malnutrition is a serious health concern for frail elderly people with many health problems. Understanding the risk factors for malnutrition helps physicians assess and manage the condition. Primary care physicians are in an excellent position to screen, educate, and manage their elderly malnourished patients.

Tunable femtosecond-pulse generation by an optical parametric oscillator in the saturation regime.

We demonstrate the generation of powerful, bandwidth-limited pulses in a KTP optical parametric oscillator synchronously excited by the pulse train of a f lash-lamp-pumped, mode-locked Nd:YLF laser. Operating the optical parametric oscillator a factor of 4 above threshold and optimizing the cavity length yields pulses of 260 +/- 30 fs. The shortening by a factor of 15 relative to the pump is accompanied by extended pulse wings. Tunability of the device is shown in the wavelength range 1.2 -1.6 microm.

The unexpected relocation of elderly in-patients in response to a threatened strike.

A threatened strike by non-professional hospital employees caused a teaching hospital to halve its in-patient numbers. This paper describes this unexpected, involuntary intervention in patient care in the Department of Geriatric Medicine. Fifty-three patients were discharged, 46 patients were transferred for 12 days to another hospital and 29 remained in the department. There was no evidence of important disruption in patient-care nor exacerbation of patient-distress as seen in ratings of patients' social, emotional and physical functioning. It is suggested that important factors in achieving successful unexpected relocation are: selection of patients who are medically stable albeit with significant physical and mental disability; the preparation and participation of patients and staff; and the continuation of patient care by nursing staff familiar to the patients.

MRI and proton spectroscopy in Lowe syndrome.

The oculocerebrorenal syndrome of Lowe (OCRL) is an X-linked disorder characterized by major abnormalities of eyes, nervous system, and kidneys. We report two patients with typical intracranial lesions on MRI. The proton spectroscopy study of the periventricular white matter showed a moderate elevation of the signal at 3.56 ppm in the patient with cystic lesions. This resonance is usually assigned to myo-inositol and interpreted as a glial marker. In our patient it could also represent a true accumulation inside the cysts of phosphatidylinositol 4,5-biphosphate which is not degraded in patients with Lowe syndrome.

A case of Ohtahara syndrome with olivary-dentate dysplasia and agenesis of mamillary bodies.

We report a patient with early infantile epileptic encephalopathy (EIEE) with suppression-burst (Ohtahara syndrome) associated with olivary-dentate dysplasia and agenesis of mamillary bodies is reported. Although those with Ohtahara syndrome are a heterogeneous group, virtually all reported cases are secondary to neuronal migrational disorders, sometimes only identified by detailed neuropathologic examination, as in this case report, which describes mamillary body agenesis as a not-yet-recognized anomaly associated with Ohtahara syndrome. All children with Ohtahara syndrome should have high-resolution magnetic resonance imaging (MRI) and detailed postmortem neuropathologic examinations.

[The school child carrying heavy burdens]. / Das Schulkind als Lastenträger.

In 163 Viennese pupils in standard 1 to 8, the weight of the schoolbag, the bodyweight and the ratio of these two parameters were examined in order to describe the amount of burden carried by those children. The results were: 1. The weight of the schoolbag war 4.0 kg (range 1 to 9 kg). 2. The pupils carried a schoolbag weighing on the average 10%, in standard 2 about 15% and in standard 8 about 6% of their bodyweight. 3. In every 6th pupil, the weight of the schoolbag constituted more than 15% of the bodyweight. 4. In analogy to pupils in standard 2, adults with a body weight of 70 kg would have to carry a weight of up to 17.5 kg to their working place. 5. While pupils have to carry a burden between 10 and 25% of their bodyweight, adults were carrying only between 1 and 10% of their bodyweight to work. We conclude that pupils are carrying daily a heavy burden in form of a schoolbag and adults apparently don't care about it.