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1.
J R Soc Interface ; 14(136)2017 11.
Article in English | MEDLINE | ID: mdl-29118112

ABSTRACT

Adult gliomas are aggressive brain tumours associated with low patient survival rates and limited life expectancy. The most important hallmark of this type of tumour is its invasive behaviour, characterized by a markedly phenotypic plasticity, infiltrative tumour morphologies and the ability of malignant progression from low- to high-grade tumour types. Indeed, the widespread infiltration of healthy brain tissue by glioma cells is largely responsible for poor prognosis and the difficulty of finding curative therapies. Meanwhile, mathematical models have been established to analyse potential mechanisms of glioma invasion. In this review, we start with a brief introduction to current biological knowledge about glioma invasion, and then critically review and highlight future challenges for mathematical models of glioma invasion.


Subject(s)
Brain Neoplasms , Brain , Glioma , Models, Biological , Brain/metabolism , Brain/pathology , Brain/physiopathology , Brain Neoplasms/metabolism , Brain Neoplasms/pathology , Brain Neoplasms/physiopathology , Glioma/metabolism , Glioma/pathology , Glioma/physiopathology , Humans , Neoplasm Invasiveness
2.
HNO ; 62(7): 530-5, 2014 Jul.
Article in German | MEDLINE | ID: mdl-24920504

ABSTRACT

BACKGROUND: Alongside improvements in hearing and communication skills, the rehabilitation of children, adolescents and adults with a cochlear implant (CI) in recent years has increasingly taken into account mental health and quality of life issues. In the context of the programs offered, this study assesses the significance of dance for the mental health of adult clients with a CI. METHODS: Eleven adult CI users participated in a dance project, which took place as a cooperation between the ENT University Hospital Heidelberg and the Baden State Theatre Karlsruhe. Participants were questioned at two different time points for assessment with the mental health scales (SPG). These scales measure seven different aspects of psychosocial well-being (including autonomy, willpower, affirmation of life and meaningfulness). RESULTS: Significant positive changes in the domains of affirmation of life, self-reflection and social integration were revealed by before and after comparisons; tendencies toward positive change were observed (p ≤ 0.10) in the domains of willpower, naturalness and meaningfulness. No changes were observed in the autonomy domain. CONCLUSION: The results indicate that the mental health of adult clients with a CI can be strengthened by dance as a complementary rehabilitation module. Concepts of CI rehabilitation should increasingly find anchor in the consideration of such arrangements for its range of offers.


Subject(s)
Cochlear Implantation/psychology , Cochlear Implants , Dance Therapy , Hearing Loss, Sensorineural/psychology , Hearing Loss, Sensorineural/rehabilitation , Mental Health , Quality of Life/psychology , Adult , Aged , Combined Modality Therapy/methods , Combined Modality Therapy/psychology , Female , Hearing Loss, Sensorineural/diagnosis , Humans , Male , Middle Aged , Pilot Projects , Treatment Outcome
3.
Eur J Med Genet ; 57(9): 494-7, 2014 Sep.
Article in English | MEDLINE | ID: mdl-24862882

ABSTRACT

We report on two adult patients, who both presented with overgrowth and one of them additionally with macrocephaly while carrying an 1p36 microdeletion of about 2.1 Mb. They are full brothers born to unaffected parents. Although both brothers attended special schools, they lived independently without a legal guardian and were able to succeed in regular jobs. One of the brothers received a professional education. Genetic analysis of the parents revealed neither the microdeletion nor a cryptical translocation or inversion. We suggest that the recurrent deletion is a result of germline mosaicism, a phenomenon reported only once in the context of the 1p36 microdeletion syndrome. Our report confirms the recurrence of the apparently de novo 1p36 microdeletion due to a likely germline mosaicism of one of the parents. Furthermore, it illustrates the possibility of the distinct phenotype with a nearly normal intellectual outcome of the 1p36 microdeletion syndrome that might be due to the region involved in our patients.


Subject(s)
Chromosome Deletion , Chromosomes, Human, Pair 1 , Growth Disorders/diagnosis , Growth Disorders/genetics , Megalencephaly/diagnosis , Megalencephaly/genetics , Phenotype , Adult , Comparative Genomic Hybridization , Humans , In Situ Hybridization, Fluorescence , Intellectual Disability , Karyotype , Male , Siblings , Syndrome
4.
Eur J Med Genet ; 57(2-3): 85-9, 2014 Feb.
Article in English | MEDLINE | ID: mdl-24380767

ABSTRACT

We report on two female patients carrying small overlapping Xq26.2 deletions of 100 kb and 270 kb involving the PHF6 gene. Mutations in PHF6 have been reported in individuals with Borjeson-Forssman-Lehmann syndrome, a condition present almost exclusively in males. Two very recent papers revealed de novo PHF6 defects in seven female patients with intellectual disability and a phenotype resembling Coffin-Siris syndrome (sparse hair, bitemporal narrowing, arched eyebrows, synophrys, high nasal root, bulbous nasal tip, marked clinodactyly with the hypoplastic terminal phalanges of the fifth fingers and cutaneous syndactyly of the toes, Blaschkoid linear skin hyperpigmentation, dental anomalies and occasional major malformations). The clinical presentation of these patients overlaps completely with our first patient, who carries a germline deletion involving PHF6. The second patient has a mosaic deletion and presented with a very mild phenotype of PHF6 loss in females. Our report confirms that PHF6 loss in females results in a recognizable phenotype overlapping with Coffin-Siris syndrome and distinct from Borjeson-Forssman-Lehmann syndrome. We expand the clinical spectrum and provide the first summary of the recommended medical evaluation.


Subject(s)
Carrier Proteins/genetics , Chromosome Disorders/diagnosis , Chromosome Disorders/genetics , Gene Deletion , Phenotype , Abnormalities, Multiple/diagnosis , Chromosome Deletion , Chromosomes, Human, X , Comparative Genomic Hybridization , Epilepsy/diagnosis , Face/abnormalities , Facies , Female , Fingers/abnormalities , Growth Disorders/diagnosis , Hand Deformities, Congenital/diagnosis , Humans , Hypogonadism/diagnosis , In Situ Hybridization, Fluorescence , Infant , Intellectual Disability/diagnosis , Mental Retardation, X-Linked/diagnosis , Micrognathism/diagnosis , Neck/abnormalities , Obesity/diagnosis , Repressor Proteins , X Chromosome Inactivation
5.
J Neurooncol ; 110(3): 325-33, 2012 Dec.
Article in English | MEDLINE | ID: mdl-23015095

ABSTRACT

Reports about the prognostic value of IDH mutations and the promoter region of the O6-Methyl-guanyl-methyl-transferase gene in secondary high-grade gliomas (sHGG) are few in number. We investigated the prognostic value of IDH mutations and methylation of the promoter region of the MGMT gene in 99 patients with sHGG and analyzed the clinical course of those tumors. Patients with sHGG were screened for IDH mutations by direct sequencing, and, for promoter status of MGMT gene, by the methylation-specific polymerase chain reaction. A total of 48 of 99 patients (48.5 %) had secondary anaplastic gliomas (Group 1), while 51 patients had secondary glioblastomas (Group 2). The median survival time after malignant progression of all patients with sHGG and with an IDH mutation was 4 years, which is significantly longer than in patients with wild-type IDH (1.2 years, p = 0.009). Patients' survival was not significantly influenced by the tumors' MGMT promoter status, both in Group 1- 9.7 years vs. 6.1 years, methylated vs. unmethylated promoter (p = 0.330)-as well as in Group 2-1.5 years vs. 1.6 years, methylated versus unmethylated promoter (p = 0.829). In our population, the IDH mutation status was not associated with increased PFS or median survival time in sGBM patients. However, patients with secondary anaplastic glioma and IDH mutation had a significantly improved outcome. In addition, IDH mutations are a more powerful prognostic marker concerning both PFS and MS than the MGMT promoter status in those patients.


Subject(s)
Brain Neoplasms/genetics , DNA Modification Methylases/genetics , DNA Repair Enzymes/genetics , Glioblastoma/genetics , Isocitrate Dehydrogenase/genetics , Mutation/genetics , Promoter Regions, Genetic/genetics , Tumor Suppressor Proteins/genetics , Adult , Aged , Biomarkers, Tumor/genetics , Brain Neoplasms/mortality , Brain Neoplasms/pathology , Chromosome Deletion , Chromosomes, Human, Pair 1/genetics , Chromosomes, Human, Pair 19/genetics , DNA Methylation , DNA, Neoplasm , Disease Progression , Female , Follow-Up Studies , Glioblastoma/mortality , Glioblastoma/pathology , Humans , Male , Middle Aged , Neoplasm Grading , Polymerase Chain Reaction , Prognosis , Survival Rate , Young Adult
6.
Biophys J ; 83(6): 3490-8, 2002 Dec.
Article in English | MEDLINE | ID: mdl-12496115

ABSTRACT

The pressure dependence of the photocycle kinetics of bacteriorhodopsin from Halobacterium salinarium was investigated at pressures up to 4 kbar at 25 degrees C and 40 degrees C. The kinetics can be adequately modeled by nine apparent rate constants, which are assigned to irreversible transitions of a single relaxation chain of nine kinetically distinguishable states P(1) to P(9). All states except P(1) and P(9) consist of two or more spectral components. The kinetic states P(2) to P(6) comprise only the two fast equilibrating spectral states L and M. From the pressure dependence, the volume differences DeltaV(o)(LM) between these two spectral states could be determined that range from DeltaV(o)(LM) = -11.4 +/- 0.7 ml/mol (P(2)) to DeltaV(o)(LM) = 14.6 +/- 2.8 mL/mol (P(6)). A model is developed that explains the dependence of DeltaV(o)(LM) on the kinetic state by the electrostriction effect of charges, which are formed and neutralized during the L/M transition.


Subject(s)
Bacteriorhodopsins/chemistry , Bacteriorhodopsins/physiology , Models, Biological , Purple Membrane/chemistry , Purple Membrane/physiology , Bacteriorhodopsins/radiation effects , Computer Simulation , Darkness , Halobacterium salinarum/chemistry , Halobacterium salinarum/physiology , Halobacterium salinarum/radiation effects , Kinetics , Lasers , Light , Models, Chemical , Photochemistry/methods , Pressure , Spectrophotometry/methods , Temperature , Thermodynamics
7.
Mil Med ; 166(11): 1023-5, 2001 Nov.
Article in English | MEDLINE | ID: mdl-11725315

ABSTRACT

Machete-related wounds are a source of appreciable morbidity in many developing nations. We describe a case of radial nerve injury resulting from a machete attack in Haiti. Twenty-two additional cases of machete-related wounds treated during a 3-month humanitarian mission to Haiti are reported. Sixty-five percent were accidental in nature, occurring from a variety of routine activities, whereas the remainder were secondary to assaults. The upper extremity was injured in 85% of the cases, often resulting in complicated wounds with nerve, tendon, and joint injuries. A treatment protocol for peripheral nerve injuries incurred in austere conditions is presented.


Subject(s)
Arm Injuries , Wounds, Stab , Adolescent , Adult , Arm Injuries/epidemiology , Arm Injuries/pathology , Child , Female , Haiti/epidemiology , Humans , Male , Middle Aged , Radial Nerve/injuries , Wounds, Stab/epidemiology , Wounds, Stab/pathology
8.
Vet Res Commun ; 22(4): 233-47, 1998 Jun.
Article in English | MEDLINE | ID: mdl-9686438

ABSTRACT

Spontaneous tumours in dogs and cats are an excellent model for clinical human research, such as in developing proton conformation radiotherapy for humans. The kinetics of tumour cells can be used effectively to predict prognosis and response to therapy in patients with tumours. Knowledge of the kinetic parameters in these tumours is therefore important. In the present study the kinetic parameters evaluated included the labelling index (LI), relative movement (RM), mitotic index (MI), and potential doubling time (Tpot). These parameters were determined using in vivo labelling with bromodeoxyuridine, flow cytometry and histological preparation. Samples were obtained and evaluated from 72 dogs and 20 cats, presenting as patients in our clinic. Within the groups of epithelial and mesenchymal tumours from dogs and cats, the kinetic parameters LI, RM and MI were compared with Tpot. Significant correlations were observed for the comparison Tpot and LI. No correlation was found between Tpot and RM.


Subject(s)
Cat Diseases/pathology , Dog Diseases/pathology , Neoplasms/veterinary , Animals , Biopsy/veterinary , Bromodeoxyuridine/chemistry , Cat Diseases/therapy , Cats , Cell Cycle/physiology , DNA, Neoplasm/chemistry , Dog Diseases/therapy , Dogs , Female , Flow Cytometry/veterinary , Kinetics , Male , Mitotic Index , Neoplasms/pathology , Neoplasms/therapy , Prognosis , Regression Analysis , Time Factors
9.
J Am Acad Child Adolesc Psychiatry ; 37(7): 785-8, 1998 Jul.
Article in English | MEDLINE | ID: mdl-9666635

ABSTRACT

This case report focuses on withdrawal dystonia, a movement disorder associated with neuroleptics. Its occurrence in a patient with Tourette's disorder complicated the clinical picture. A misinterpretation of the symptoms led to ineffective management of the movement disorder. The presence of increased blinking with facial pain, dystonic movements, and other facial movements at each neuroleptic dose reduction pointed toward withdrawal dystonia rather than toward a worsening of Tourette's disorder. Implications for diagnosis and treatment are discussed.


Subject(s)
Antipsychotic Agents/adverse effects , Dyskinesia, Drug-Induced/diagnosis , Tourette Syndrome/physiopathology , Adolescent , Diagnosis, Differential , Humans , Male , Substance Withdrawal Syndrome
11.
Plast Reconstr Surg ; 97(5): 952-6; discussion 957-8, 1996 Apr.
Article in English | MEDLINE | ID: mdl-8618998

ABSTRACT

Breast reduction is a surgical procedure most commonly performed on an inpatient basis under general anesthesia. In the current climate of health care reform, we must evaluate such procedures to determine if there are alternate, less expensive, but equally safe means to perform them. Our purpose is to present our experience with 50 bilateral breast reductions performed under local anesthesia with intravenous sedation between October of 1991 and October of 1994. We have excluded bilateral reductions under 500 gm total, unilateral reductions, mastopexies, and gynecomastia procedures. Patients were sedated with intravenous Versed and fentanyl and a local solution consisting of marcaine, lidocaine, and 1:2000,000 epinephrine. Intercostal blocks were not used routinely. Monitoring and sedation were performed by nonanesthesia personnel in 49 patients. There were no complications relating to the sedation or to the local solution. All reductions were performed by the inferior pedicle technique. The average patient age was 28.0 years (20 to 67 years). The total breast tissue resected was 1372 gm (516 to 2948 gm), with 33 patients having resections greater than 1000 gm. Operative times averaged 3 hours (115 to 275 minutes). Forty-nine of the 50 patients tolerated the procedure with little or no recall. Twenty-eight patients were discharged on the same day as admission. One patient recalled some significant discomfort during parts of the procedure. All stated that they would again have the procedure performed under local anesthesia with intravenous sedation. Our conclusions are as follows: (1) Breast reduction can be performed safely and comfortably under local anesthesia with intravenous sedation. (2) Patients should be chosen on their acceptability as intravenous sedation candidates and not with regard to the amount of breast tissue removed. (3) There will be a subset of patients who can be discharged on the same day.


Subject(s)
Anesthesia, Local , Anesthetics, Intravenous , Anesthetics, Local , Hypnotics and Sedatives , Mammaplasty/methods , Adult , Ambulatory Surgical Procedures , Anesthesia, Local/economics , Anesthesia, Local/methods , Bupivacaine , Cost Control , Epinephrine , Female , Fentanyl , Humans , Lidocaine , Mammaplasty/economics , Midazolam , Patient Selection , Promethazine , Time Factors
12.
Spine (Phila Pa 1976) ; 19(13): 1467-70, 1994 Jul 01.
Article in English | MEDLINE | ID: mdl-7939976

ABSTRACT

STUDY DESIGN: The use of muscle flaps for closing complex thoracolumbar and lumbar spine wounds was studied retrospectively. Five patients in whom traditional, conservative treatment modalities did not work underwent a variety of muscle flap closures with successful healing. OBJECTIVES: Patients with complicated back wounds ranging from exposed hardware to post-traumatic defects were treated initially with conservative treatments. The authors evaluated the efficacy of applying techniques and knowledge gained from complex lower extremity wound coverage of back wounds. SUMMARY OF BACKGROUND DATA: Six muscle transfer procedures were performed on five patients. All patients were closed with local muscle flaps using the trapezius and latissimus dorsi muscles. METHODS: Success was defined as a closed stable wound that needed no future surgery nor allowed the primary defect to heal before hardware removal. There was no evidence of chronic infection. Surgical hardware was salvaged in one of three patients. RESULTS: All were successfully closed and have been followed up to 30 months without evidence of recurrence. CONCLUSIONS: The cases presented illustrate the usefulness of rotation flaps when there is an extensive soft tissue defect that has exposed neural, osseous, and foreign structures. The use of local transposition muscle flaps as an adjunct in closing complex back wounds has been very successful in our experience. Although recurrent infection may occur, this technique has facilitated the establishment of a soft tissue envelope to achieve short- and long-term wound healing.


Subject(s)
Back Injuries , Surgical Flaps/methods , Adult , Back/surgery , Female , Humans , Lumbar Vertebrae/surgery , Male , Middle Aged , Plasmacytoma/surgery , Soft Tissue Injuries/surgery , Spinal Fractures/surgery , Spinal Neoplasms/surgery , Surgical Wound Infection/surgery , Thoracic Vertebrae/injuries , Wound Infection/surgery , Wounds, Gunshot/surgery
13.
Arthritis Rheum ; 35(3): 356-63, 1992 Mar.
Article in English | MEDLINE | ID: mdl-1339266

ABSTRACT

OBJECTIVE: To define the germline counterparts of potentially highly mutated autoantibodies in disease states. METHODS: We developed a systematic approach by first characterizing a rearranged Ig gene and its upstream flank, and then designing suitable primers to amplify specifically the putative germline counterpart. RESULTS: We identified and characterized the germline counterpart of a rheumatoid factor heavy chain variable region. CONCLUSION: We showed unequivocally that the heavy chain of a rheumatoid factor, derived from synovial tissue, has 4 replacement mutations from the corresponding germline gene. The technique allows quick assessment of the degree of somatic mutation in many autoantibodies, and thus can help to elucidate the underlying mechanisms for the induction and sustained production of such antibodies in patients.


Subject(s)
Arthritis, Rheumatoid/immunology , Autoantibodies/genetics , Amino Acid Sequence , Base Sequence , DNA Probes , Gene Rearrangement, B-Lymphocyte, Heavy Chain , Genes, Immunoglobulin , Humans , Immunoglobulin Heavy Chains/genetics , Molecular Sequence Data , Mutation , Polymerase Chain Reaction , Rheumatoid Factor/genetics
14.
J Trauma ; 32(2): 259-62, 1992 Feb.
Article in English | MEDLINE | ID: mdl-1740811

ABSTRACT

Traumatic bilateral renal artery thrombosis is a rare injury. We found 15 cases previously reported. An additional case report of a 54-year-old man is presented with a review of the literature. The diagnosis was made by computed tomography and confirmed by angiography. Successful revascularization was performed. A high index of suspicion, early diagnosis, and prompt revascularization are essential in obtaining optimal results without hypertension or permanent impairment of renal function.


Subject(s)
Abdominal Injuries/complications , Renal Artery Obstruction/etiology , Thrombosis/etiology , Wounds, Nonpenetrating/complications , Humans , Male , Middle Aged , Renal Artery/surgery , Renal Artery Obstruction/diagnostic imaging , Renal Artery Obstruction/surgery , Saphenous Vein/transplantation , Thrombosis/diagnostic imaging , Thrombosis/surgery , Tomography, X-Ray Computed
15.
Am Surg ; 57(7): 463-7, 1991 Jul.
Article in English | MEDLINE | ID: mdl-1647716

ABSTRACT

Parathyroid carcinoma is a rare clinical entity accounting for only 4 per cent of all cases of parathyroid neoplasia. Nonfunctioning parathyroid carcinoma is even rarer. Previously, virtually all patients with these lesions were treated for a nonspecific neck mass. However, in the present case, a preoperative diagnosis of nonfunctioning parathyroid carcinoma was made based on the technetium pertechnetate/thallium 201 subtraction scan. The authors report on the 14th case of nonfunctioning parathyroid carcinoma, a review of the literature, and guidelines for the preoperative and operative evaluation of neck masses suspected to be parathyroid carcinoma.


Subject(s)
Carcinoma/diagnostic imaging , Parathyroid Neoplasms/diagnostic imaging , Adult , Carcinoma/pathology , Carcinoma/physiopathology , Carcinoma/surgery , Humans , Male , Parathyroid Neoplasms/pathology , Parathyroid Neoplasms/physiopathology , Parathyroid Neoplasms/surgery , Parathyroidectomy , Prognosis , Radionuclide Imaging , Sodium Pertechnetate Tc 99m , Thallium Radioisotopes , Thyroidectomy
16.
Am Surg ; 56(11): 672-4, 1990 Nov.
Article in English | MEDLINE | ID: mdl-2240859

ABSTRACT

A case of starch peritonitis is presented with a review of the history of this continuing problem. The syndrome's presentation, diagnosis, histopathology and treatment are discussed. The rarity of starch peritonitis today may be due to more attention to glove washing by surgeons, fewer impurities in the glove powder or lack of recognition of the syndrome. In order to prevent a resurgence of the starch peritonitis syndrome we must continue to emphasize the importance of washing gloves, maintain the quality control and purity of the powder used, and be cognizant of the signs and symptoms so that such cases may be managed nonoperatively.


Subject(s)
Foreign-Body Reaction/etiology , Gloves, Surgical , Peritonitis/etiology , Postoperative Complications/etiology , Starch/adverse effects , Adult , Female , Foreign-Body Reaction/surgery , Humans , Peritonitis/surgery , Postoperative Complications/surgery , Starch/analysis , Zea mays/adverse effects , Zea mays/analysis
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