Bettina Buchholz

  • Citations Per Year
Learn More
About 70% of patients with Prader-Willi syndrome (PWS) and Angelman syndrome (AS) have a common interstitial de novo microdeletion encompassing paternal (PWS) or maternal (AS) loci D15S9 to D15S12. Most of the non-deletion PWS patients and a small number of non-deletion AS patients have a maternal or paternal uniparental disomy (UPD)15, respectively. Other(More)
We describe 2 patients with Angelman syndrome (AS) due to paternal uniparental disomy (UPD). One patient is a female aged 30 years and the other a male aged 4 1/2 years. Both have the characteristic wide mouth and big chin, moderate mental retardation, virtually no speech but some 30 words of sign language and a happy disposition with outbursts of laughter.(More)
Background: Because it produces superior cosmetic results, patients prefer laparoscopic appendectomy over open appendectomy. We developed two alternative laparoscopic routes of access to the abdominal cavity for appendectomy that use suprapubic incisions placed below the line of pubic hair. We then compared the results for these three different modes of(More)
Malignant fibrous histiocytomas are rare soft-tissue sarcomas of uncertain histogenesis but represent the most common soft-tissue sarcomas in adults. In this report of a 70-year-old male patient suffering from this rare malignant disease, we describe the diagnostic benefits of combined functional and morphological imaging as realized in positron emission(More)
REASONS FOR PERFORMING STUDY The antifibrinolytic, 6-aminohexanoic acid, also named aminocaproic acid (ACA), has been used empirically as a treatment for exercise-induced pulmonary haemorrhage (EIPH) on the unsubstantiated basis that transient coagulation dysfunction may contribute to its development. OBJECTIVE To assess the effect of ACA on(More)
Lymphoepithelial carcinoma is a relatively common malignancy in the nasopharyngeal region, but it rarely occurs at other sites. We report a lymphoepithelial carcinoma in the pancreas of a 65-year-old male patient operated on for a gastric stump carcinoma 7 years previously. The solitary tumor in the pancreas presented as a circumscribed lesion and measured(More)
The successful treatment of a unilateral penetrating stab wound injury of the chest is reported. Following emergency resection of the upper and middle lobe of the right lung acute pulmonary oedema developed in the dependent left lung. Air-tight suture of an additional injury of the right lower lobe was not possible. To avoid formation of a fistula in the(More)
  • 1