Survival of a 30-week baby with congenital myotonic dystrophy initially ventilated for 55 days

In previous reports, duration of initial ventilation exceeding 1 month almost always predicts non-survival of babies with congenital myotonic dystrophy. However, a baby with this condition survived beyond infancy after 55 days' ventilation. We describe this case in detail, explain why the baby survived and highlight the importance of individualized assessment, in addition to applying general prognostic terms described in the literature.     

Phrenic motor unit recruitment during ventilatory and non-ventilatory behaviors

Phrenic motoneurons are located in the cervical spinal cord and innervate the diaphragm muscle, the main inspiratory muscle in mammals. Similar to other skeletal muscles, phrenic motoneurons and diaphragm muscle fibers form motor units which are the final element of neuromotor control. In addition to their role in sustaining ventilation, phrenic motor units are active in other non-ventilatory behaviors important for airway clearance such as coughing or sneezing. Diaphragm muscle fibers comprise all fiber types and are commonly classified based on expression of contractile proteins including myosin heavy chain isoforms. Although there are differences in contractile and fatigue properties across motor units, there is a matching of properties for the motor neuron and muscle fibers within a motor unit. Motor units are generally recruited in order such that fatigue-resistant motor units are recruited earlier and more often than more fatigable motor units. Thus, in sustaining ventilation, fatigue-resistant motor units are likely required. Based on a series of studies in cats, hamsters and rats, an orderly model of motor unit recruitment was proposed that takes into consideration the maximum forces generated by single type-identified diaphragm muscle fibers as well as the proportion of the different motor unit types. Using this model, eupnea can be accomplished by activation of only slow-twitch diaphragm motor units and only a subset of fast-twitch, fatigue-resistant units. Activation of fast-twitch fatigable motor units only becomes necessary when accomplishing tasks that require greater force generation by the diaphragm muscle, e.g., sneezing and coughing.     

Midline congenital malformations of the brain and skull

Considering the complexity of congenital midline abnormalities of the brain, it is mandatory to review and summarize the subject, based on embryologic development, developmental biology, clinical approach, neuroimaging, and molecular genetics. There are still several areas of poor knowledge, confusion, and controversy. Pathogenesis in some cases is not clearly understood, and definitions and limits among different diseases are not apparent. This article reviews several malformations of the skull and brain with the aims of making image interpretation easier, enabling an accurate diagnosis, establishing the prognosis, and aiding in genetic counseling.     

Erg?nzung und Unterstützung zu konventionellen Tumortherapien Misteltherapie

Die anthroposophische Misteltherapie kann etablierte onkologische Standardtherapien im Sinne einer umfassenderen und ganzheitlichen Versorgung erg?nzen.     

Contact sensitizers downregulate the expression of the chemokine receptors CCR6 and CXCR4 in a skin dendritic cell line

Chemokines are involved in the control of dendritic cell (DC) trafficking, which is critical for the immune response, namely in allergic contact dermatitis (ACD). In this work, we investigated by flow cytometry the effect of the contact sensitizers 2,4-dinitrofluorobenzene (DNFB), 1,4-phenylenediamine (PPD) and nickel sulfate (NiSO₄), on the surface expression of the chemokine receptors CCR6 and CXCR4 in DC. As an experimental model of a DC we used a fetal skin-derived dendritic cell line (FSDC), which has morphological, phenotypical and functional characteristics of skin DC. Our results show that all the skin sensitizers studied decreased the membrane expression of the chemokine receptors CCR6 and CXCR4. In contrast, 2,4-dichloronitrobenzene (DCNB), the inactive analogue of DNFB without contact sensitizing properties, was without effect on the surface expression of these receptors. Lipopolysaccharide (LPS), which induces the maturation of DC, also reduced surface CCR6 and CXCR4 expression.     

Neuro-ophthalmological manifestations of systemic lupus erythematosus in Asian patients

Purpose : To report eight patients with diagnosed systemic lupus erythematosus (SLE) who presented with a variety of neuro‐ophthalmological complications and outcomes. Methods : A review of the follow up, subsequent management and outcomes of the neuro‐ophthalmological complications of eight patients with SLE. Results : The patients presented with a myriad of symptoms of varying severities. The most common manifestations were that of optic neuropathy and eye movement abnormalities. The outcome was variable ranging from complete recovery to optic atrophy with navigational visual acuity. Treatment was often empirical, although early treatment with corticosteroids has been tried with varying success. Conclusions : The pathophysiology in the neuro‐ ophthalmological manifestations of SLE is thought be due to vaso‐occlusive disease of the small vessels of the nerve and brain, secondary to an autoimmune process. Ophthalmologists may need to consider the diagnosis of SLE in young women who present with a recent onset of neuro‐ophthalmological symptoms and signs.     

Undergraduate ophthalmology education survey of New Zealand ophthalmologists, general practitioners and optometrists

Aim : To determine what New Zealand ophthalmologists, general practitioners and optometrists consider important ophthalmic topic areas requiring emphasis in the medical undergraduate curriculum. Method : A total of 793 questionnaires related to the content and teaching of undergraduate ophthalmology were sent to ophthalmologists, general practitioners and optometrists. Results were analysed separately for the three respondent groups and as a whole. Results : Four hundred and fourteen questionnaires were returned (52% return rate). Overall responses of the three participant groups were similar and agreed favourably with the current curriculum. The ability to measure visual acuity (97%) and pupillary reflexes (93%), perform ophthalmoscopy (92%), and assess visual fields (68%) were regarded as ‘important or essential’ by the majority of respondents. Only 53% of respondents consider the ability to diagnose chronic open angle glaucoma as important. The respondents stressed the importance of the diagnosis of predominantly anterior segment disease contrasting with the traditional bias towards the teaching of ophthalmoscopy and posterior segment disease. The majority of respondents stressed the importance of graduating medical students being able to treat bacterial and allergic conjunctivitis, styes, blepharitis, corneal abrasion, and corneal and conjunctival foreign bodies, areas present but not normally emphasized in current curricula. Conclusion : The findings of this study provided additional data to facilitate curriculum design and illustrated the value of an integrated problem‐based learning approach in ophthalmology undergraduate teaching.     

Anthropomorphic radiologic phantoms

A technique is being developed for the design and fabrication of anthropomorphic phantoms for diagnostic x-ray imaging. Anatomic information extracted from actual patient radiographs is incorporated into the phantoms using computer image processing and computer-assisted machining methods. In this paper, the technique is described as applied to a breast phantom, and preliminary images that closely mimic human anatomy on radiographs are shown.