TY  - JOUR
A1  - Heinrich, T.
A1  - Nanda, I.
A1  - Rehn, M.
A1  - Zollner, U.
A1  - Frieauff, E.
A1  - Wirbelauer, J.
A1  - Grimm, T.
A1  - Schmid, M.
T1  - Live-Born Trisomy 22: Patient Report and Review
JF  - Molecular Syndromology
N2  - Trisomy 22 is a common trisomy in spontaneous abortions. In contrast, live-born trisomy 22 is rarely seen due to severe organ malformations associated with this condition. Here, we report on a male infant with complete, non-mosaic trisomy 22 born at 35 + 5 weeks via caesarean section. Peripheral blood lymphocytes and fibroblasts showed an additional chromosome 22 in all metaphases analyzed (47,XY,+22). In addition, array CGH confirmed complete trisomy 22. The patient’s clinical features included dolichocephalus, hypertelorism, flattened nasal bridge, dysplastic ears with preauricular sinuses and tags, medial cleft palate, anal atresia, and coronary hypospadias with scrotum bipartitum. Essential treatment was implemented in close coordination with the parents. The child died 29 days after birth due to respiratory insufficiency and deterioration of renal function. Our patient’s history complements other reports illustrating that children with complete trisomy 22 may survive until birth and beyond.
KW  - chromosomal abnormality
KW  - live-born
KW  - non-mosaic
KW  - trisomy 22
Y1  - 2013
U6  - http://nbn-resolving.de/urn/resolver.pl?urn:nbn:de:bvb:20-opus-196535
SN  - 1661-8769
SN  - 1661-8777
N1  - This publication is with permission of the rights owner freely accessible due to an Alliance licence and a national licence (funded by the DFG, German Research Foundation) respectively.
VL  - 3
IS  - 6
ER  - 
TY  - JOUR
A1  - Padberg, Inken
A1  - Knispel, Petra
A1  - Zöllner, Susanne
A1  - Sieveking, Meike
A1  - Schneider, Alice
A1  - Steinbrink, Jens
A1  - Heuschmann, Peter U.
A1  - Wellwood, Ian
A1  - Meisel, Andreas
T1  - Social work after stroke: identifying demand for support by recording stroke patients' and carers' needs in different phases after stroke
JF  - BMC Neurology
N2  - Background

Previous studies examining social work interventions in stroke often lack information on content, methods and timing over different phases of care including acute hospital, rehabilitation and out-patient care. This limits our ability to evaluate the impact of social work in multidisciplinary stroke care.

We aimed to quantify social-work-related support in stroke patients and their carers in terms of timing and content, depending on the different phases of stroke care.

Methods

We prospectively collected and evaluated data derived from a specialized “Stroke-Service-Point” (SSP); a “drop in” center and non-medical stroke assistance service, staffed by social workers and available to all stroke patients, their carers and members of the public in the metropolitan region of Berlin, Germany.

Results

Enquiries from 257 consenting participants consulting the SSP between March 2010 and April 2012 related to out-patient and in-patient services, therapeutic services, medical questions, medical rehabilitation, self-help groups and questions around obtaining benefits. Frequency of enquiries for different topics depended on whether patients were located in an in-patient or out-patient setting. The majority of contacts involved information provision. While the proportion of male and female patients with stroke was similar, about two thirds of the carers contacting the SSP were female.

Conclusion

The social-work-related services provided by a specialized center in a German metropolitan area were diverse in terms of topic and timing depending on the phase of stroke care. Targeting the timing of interventions might be important to increase the impact of social work on patient’s outcome.
KW  - Social support
KW  - Stroke
KW  - Rehabilitation
KW  - Social work
KW  - Patient-centered care
Y1  - 2016
U6  - http://nbn-resolving.de/urn/resolver.pl?urn:nbn:de:bvb:20-opus-164691
VL  - 16
IS  - 111
ER  -