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2.
Pediatr Cardiol ; 29(1): 126-9, 2008 Jan.
Article in English | MEDLINE | ID: mdl-17891434

ABSTRACT

Heterozygous mutations in the NKX2-5 gene of patients with various congenital heart defects have been reported. Most of the congenital heart defects associated with the mutations in the NKX2-5 gene are conotruncal heart anomalies, primarily the tetralogy of Fallot. In this study, the authors screened 72 Turkish children with conotruncal heart anomalies and 185 healthy control subjects to find the NKX2-5 alterations. They found one previously documented NKX2-5 missense alteration, heterozygous c.73C>T (p.Arg25Cys), in a 10-year-old boy with tetralogy of Fallot. The same heterozygous alteration was found also in the patient's healthy father and in two unrelated persons in the healthy control group. The current study shows for the first time the presence of p.Arg25Cys in healthy control subjects other than African Americans. These results show that no genetic support exists for the pathogenecity of this alteration, although a previous in vitro study and theoretical predictions suggest a structural/functional difference in the altered protein region.


Subject(s)
Heart Defects, Congenital/genetics , Homeodomain Proteins/genetics , Polymorphism, Genetic , Transcription Factors/genetics , Arginine/genetics , Child , Child, Preschool , Cysteine/genetics , Double Outlet Right Ventricle/genetics , Female , Homeobox Protein Nkx-2.5 , Humans , Infant , Infant, Newborn , Male , Mutation, Missense , Pulmonary Atresia/genetics , Tetralogy of Fallot/genetics , Transposition of Great Vessels/genetics , Truncus Arteriosus, Persistent/genetics
3.
Minerva Chir ; 62(5): 417-9, 2007 Oct.
Article in English | MEDLINE | ID: mdl-17947952

ABSTRACT

Tetralogy of Fallot (TOF) is a common form of cyanotic heart disease. Complete surgical correction in younger age group offers good long-term results with reasonable morbidity and improved prognosis in patients with TOF. However, following corrective surgery pulmonary valve replacement (PVR) might be required for residual pulmonary regurgitation in order to avoid irreversible right ventricular remodeling. Otherwise, residual uncorrected pulmonary regurgitation may lead to right ventricular dilatation, impaired biventricular function, ventricular arrhythmias and limited exercise capacity. We report the first case of Freedom Solo stentless valve (Sorin Group, Saluggia, Italy) implantation in the pulmonary position in an adolescent with severe pulmonary insufficiency 12 years after the repair of TOF. Pericardial stentless valves may be an alternative choice for pulmonary valve replacement to improve right ventricular contractile recovery and remodeling after PVR and may have impact on long-term survival.


Subject(s)
Heart Valve Prosthesis Implantation , Heart Valve Prosthesis , Pulmonary Valve Insufficiency/surgery , Tetralogy of Fallot/complications , Adolescent , Female , Humans , Pulmonary Valve Insufficiency/complications , Reoperation , Treatment Outcome , Ventricular Dysfunction, Right/surgery
4.
Acta Neurol Scand ; 112(5): 293-7, 2005 Nov.
Article in English | MEDLINE | ID: mdl-16218910

ABSTRACT

BACKGROUND: After surgery for ruptured anterior communicating artery (ACoA) aneurysm, several patients who have achieved a favorable neurological outcome yet have been observed to suffer from a poor cognitive outcome. The aim of this study was to explore the possible effects of temporary clip applications on frontal lobe functions in the patients with ruptured ACoA aneurysm. METHODS: Forty patients were chosen among a series of cases who underwent an early surgery (within 96 h) after ACoA aneurysm bleeding. All of them were in Hunt-Hess grade 1 or grade 2. Of the 40 patients, temporary clipping was used in 22 patients (group A), whereas it was not used in 18 patients (group B). These two groups were compared with 20 volunteers (group C) without neurologic or psychiatric disorders. RESULTS: The mean duration of temporary vessel occlusion for both A1 was 8.2 +/- 2.9 min (4-15) in group A. Neither clinical nor radiographic strokes were detected. An improvement in frontal lobe function occurred at long term in group B patients. Whereas, cognitive deficits were persisting at long-term follow-up in group A, especially in patients who had temporary clipping duration longer than 9 min. CONCLUSIONS: The results emphasize that the negative effects of temporary vessel occlusion on cognitive changes occur before ischemic damage. Thus, such negative effects of temporary clipping on cognitive functions should not be neglected by surgeons during surgery.


Subject(s)
Aneurysm, Ruptured/surgery , Cognition Disorders/physiopathology , Frontal Lobe/blood supply , Intracranial Aneurysm/surgery , Postoperative Complications/physiopathology , Subarachnoid Hemorrhage/surgery , Surgical Instruments , Adolescent , Adult , Aneurysm, Ruptured/physiopathology , Cognition Disorders/diagnosis , Craniotomy , Female , Frontal Lobe/physiopathology , Humans , Male , Microsurgery , Middle Aged , Neurologic Examination , Neuropsychological Tests , Outcome and Process Assessment, Health Care , Postoperative Complications/diagnosis , Prospective Studies , Subarachnoid Hemorrhage/physiopathology
5.
Pediatr Cardiol ; 26(6): 848-50, 2005.
Article in English | MEDLINE | ID: mdl-16088418

ABSTRACT

Noonan syndrome is the second most frequent congenital malformation syndrome, after Down syndrome, associated with cardiovascular abnormalities. The most prevalent cardiovascular abnormalities in Noonan syndrome are pulmonary stenosis and hypertrophic cardiomyopathy. We report the case of a 12-year-old girl with Noonan syndrome who had multiple cardiovascular abnormalities, including extensive bilateral coronary artery dilatation, valvular and supravalvular pulmonary stenosis, atrial septal defect, and mitral valve prolapse. Both coronary artery dilatation and supravalvular pulmonary stenosis, although rarely reported, are abnormalities of the cardiovascular system that may occur in Noonan syndrome.


Subject(s)
Cardiomyopathy, Hypertrophic/diagnosis , Coronary Vessels/pathology , Noonan Syndrome/diagnosis , Pulmonary Valve Stenosis/diagnosis , Cardiomyopathy, Hypertrophic/genetics , Cardiomyopathy, Hypertrophic/surgery , Child , Coronary Angiography , Dilatation, Pathologic/diagnostic imaging , Female , Humans , Noonan Syndrome/genetics , Noonan Syndrome/surgery , Pulmonary Valve Stenosis/surgery
6.
Acta Neurol Scand ; 112(3): 163-72, 2005 Sep.
Article in English | MEDLINE | ID: mdl-16097958

ABSTRACT

OBJECTIVES: The aim of this study was to investigate the effects of environmental light-dark changes on the outcome of mild traumatic brain injury (MTBI) using an experimental rodent model. The functions of endogenous and exogenous melatonin on the outcome of injury were also investigated METHODS: Mild traumatic brain injury was experimentally induced in 56 male Sprague-Dawley rats using a weight-drop device. Animals were divided into four groups of 14 each as follows: (i) sham-operated (trauma only, normal day-night cycle), (ii) treated with melatonin (trauma+melatonin, normal day-night cycle), (iii) darkness-induced (trauma+48 h constant dark), and (iv) treated with melatonin and darkness-induced (trauma+48 h constant dark+melatonin). Melatonin (50 mg/kg) was administered, intraperitoneally, immediately after trauma. EEG recordings were taken at three time periods (pretrauma, immediately after trauma, and 48 h after trauma). Motor functions were tested pretrauma, 24 and 48 h post-trauma. Serum melatonin levels were determined pretrauma and 48 h post-trauma. Tissue samples from right frontal area were taken 48 h after trauma for light and electron microscopic examinations. CONCLUSION: Following MTBI light deprivation alone and light deprivation in combination with exogenously administered melatonin indicated significant neuroprotective effects. Although there may be other important pathways, darkness-induced elevation in endogenous melatonin secretion appears to play an important role in this neuroprotective outcome.


Subject(s)
Brain Injuries/physiopathology , Circadian Rhythm , Darkness , Lighting , Melatonin/physiology , Animals , Brain Injuries/pathology , Electroencephalography , Male , Melatonin/blood , Microscopy, Electron , Motor Activity , Neurons/pathology , Neurons/ultrastructure , Neuroprotective Agents/blood , Photoperiod , Rats , Rats, Sprague-Dawley
7.
Br J Neurosurg ; 18(2): 171-3, 2004 Apr.
Article in English | MEDLINE | ID: mdl-15176560

ABSTRACT

Thoracic complications of ventriculoperitoneal (VP) shunt are very rare. We report an unusual case of VP shunt intrathoracic migration, associated with symptomatic hydrothorax. The patient was successfully managed with revision. We reviewed the 10 cases reported in the literature and discussed the mechanism of shunt-tip migration.


Subject(s)
Foreign-Body Migration/complications , Hydrothorax/etiology , Ventriculoperitoneal Shunt/adverse effects , Catheters, Indwelling/adverse effects , Child , Female , Foreign-Body Migration/diagnostic imaging , Humans , Hydrocephalus/surgery , Hydrothorax/diagnosis , Radiography , Ventriculoperitoneal Shunt/instrumentation
8.
Acta Neurochir (Wien) ; 146(5): 525-8, 2004 May.
Article in English | MEDLINE | ID: mdl-15118892

ABSTRACT

Primitive neuro-ectodermal tumor (PNET) of the cauda equina is a rare entity. 18 cases have been reported in the literature so far, including 4 cases with intracranial seeding. Moreover parenchymal involvement of brain has never been reported as a form of intracranial seeding from PNET of the cauda equina. A 31 year-old female patient, with PNET of cauda equina showing intracranial seeding 6 months after surgery, is presented in this report. To our knowledge, this is the first adult case of spinal cord PNET with parenchymal involvement of brain. The histopathological, clinical and radiological findings as well as treatment of the patient were evaluated.


Subject(s)
Brain Neoplasms/secondary , Cauda Equina/pathology , Neoplasm Seeding , Neuroectodermal Tumors, Primitive/secondary , Peripheral Nervous System Neoplasms/pathology , Adult , Cauda Equina/surgery , Female , Humans , Neuroectodermal Tumors, Primitive/surgery , Peripheral Nervous System Neoplasms/surgery
9.
Br J Neurosurg ; 17(6): 525-9, 2003 Dec.
Article in English | MEDLINE | ID: mdl-14756479

ABSTRACT

Meningiomas are variously benign, atypical or anaplastic neoplasms and can be treated by surgical removal. However, recurrence can be seen even after complete surgical resection in benign meningiomas and some are histologically aggressive. As predictors of recurrence or malignant proliferation some immunohistochemical markers have been used. In this study, we postoperatively identified TfR (transferrin receptor) staining and Ki-67 proliferative index in patients with intracranial meningiomas and evaluated the correlation between these parameters and the recurrence or malignant proliferation. Immunohistochemical techniques (streptavidin-biotin complex) were used to assess the TfR expression and Ki-67 labelling index in 50 surgically removed intracranial meningiomas. Significantly high TfR expression was observed in all types of meningiomas, eight of which recurred. Four cases died because of primary intracranial pathology and one died from uncontrollable epileptic seizures. Ki-67 levels were high in the cases which showed recurrence and showed atypical features. Based on our observations and the results presented above, meningioma patients with TfR score of 3 or higher and high Ki-67 labelling index must be carefully followed up for recurrence, as well as for malignant transformation. Thus, we suggest that TfR and Ki-67 immunostains should be applied routinely in patients with meningiomas.


Subject(s)
Biomarkers, Tumor/metabolism , Ki-67 Antigen/metabolism , Meningioma/diagnosis , Receptors, Transferrin/metabolism , Adolescent , Adult , Aged , Child , Female , Follow-Up Studies , Humans , Male , Meningioma/metabolism , Meningioma/surgery , Middle Aged , Neoplasm Proteins/metabolism , Prognosis , Recurrence
10.
Clin Rheumatol ; 21(5): 378-81, 2002 Sep.
Article in English | MEDLINE | ID: mdl-12223985

ABSTRACT

Familial Mediterranean fever (FMF) is an autosomal recessive disorder. Although the pathogenesis of the disease is not yet completely understood, enhanced acute-phase responsiveness is considered to be one of the most important mechanisms. The presence of high levels of antistreptolysin O (ASO) antibodies and streptococcus-associated diseases, such as acute poststreptococcal glomerulonephritis (AGN) and acute rheumatic fever (ARF), has been reported in patients with FMF. In order to better understand the effect of FMF on antistreptococcal antibody response, we measured ASO and antideoxyribonuclease B (anti-DNAse B) levels in patients with FMF and compared them with those in healthy controls. The study consisted of two parts. In the first step, antistreptococcal antibody levels were analysed in 44 patients with FMF and 165 healthy children who had no history or clinical evidence of upper respiratory tract infection (URTI) for the last 4 months. In the second step, antistreptococcal antibody levels were measured in 15 patients with FMF and 22 healthy controls in response to documented group A beta-haemolytic streptococcal pharyngitis. In the first part of the study, ASO and anti-DNAse B levels in patients with FMF were found to be significantly higher than those in healthy controls (P<0.001). In the second part, ASO and anti-DNAse B titres were found to be significantly higher in patients with FMF than in controls (P<0.001 and <0.05, respectively) 4 weeks after a positive throat culture. We concluded that patients with FMF have an exaggerated response to streptococcal antigens and might be prone to poststreptococcal non-suppurative complications, such as ARF.


Subject(s)
Antibodies, Anti-Idiotypic/analysis , Antibodies, Bacterial/analysis , Antistreptolysin/analysis , Familial Mediterranean Fever/immunology , Pharyngitis/diagnosis , Streptococcal Infections/immunology , Streptococcus pyogenes/immunology , Adolescent , Biomarkers/analysis , Case-Control Studies , Child , Child, Preschool , Familial Mediterranean Fever/diagnosis , Female , Follow-Up Studies , Humans , Incidence , Male , Pharyngitis/microbiology , Probability , Reference Values , Risk Assessment , Streptococcal Infections/diagnosis , Streptococcal Infections/epidemiology
11.
Acta Neurochir (Wien) ; 144(6): 595-9; discussion 599, 2002 Jun.
Article in English | MEDLINE | ID: mdl-12111493

ABSTRACT

Malignant mesotheliomas are neoplasms that arise from mesothelial cells and cause intractable pain in the chest wall, usually located unilaterally. This local pain can be well controlled by computerized tomography (CT)-guided percutaneous cordotomy (PC). One hundred and fifty-three patients suffering from intractable pain due to malignancy were treated with CT-guided cordotomy between 1988 and 2001. Seventy of the 153 patients had pulmonary malignancy. Among these, 40 had bronchogenic carcinoma, 11 had Pancoast tumors and the remaining 19 had mesothelioma. The latter 19 cases with malignant mesothelioma suffering from unilateral pain were treated with CT-guided PC. In 18 cases, pain was controlled totally and, in one, partial pain control was obtained. Selective pain control was obtained in 15 cases, in whom narcotic drugs were discontinued postoperatively. Post-cordotomy dysesthesia was noted in only one case, and no complication or mortality was observed. In the treatment of intractable pain, CT-guided cordotomy is a perfect method in selected cases with malignancy. This is the most effective and suitable treatment modality for local pain due to malignant mesothelioma.


Subject(s)
Cordotomy/methods , Mesothelioma/complications , Pain/etiology , Pain/surgery , Pleural Neoplasms/complications , Spinothalamic Tracts/surgery , Tomography, X-Ray Computed , Adult , Aged , Female , Humans , Male , Middle Aged , Postoperative Complications , Retrospective Studies , Treatment Outcome
14.
Br J Radiol ; 74(884): 764-6, 2001 Aug.
Article in English | MEDLINE | ID: mdl-11511505

ABSTRACT

We report a patient with clinical and cytogenetic findings consistent with DiGeorge-velocardiofacial syndrome and aplasia of the left lung. To the best of our knowledge, this is the first reported case of DiGeorge-velocardiofacial syndrome associated with unilateral lung aplasia. Gadolinium enhanced three-dimensional magnetic resonance angiography demonstrated associated right-sided aortic arch and left pulmonary artery agenesis.


Subject(s)
Abnormalities, Multiple/diagnosis , DiGeorge Syndrome/diagnosis , Lung/abnormalities , Aorta, Thoracic/abnormalities , Female , Humans , Infant, Newborn , Magnetic Resonance Angiography , Pulmonary Artery/abnormalities
15.
Pest Manag Sci ; 57(8): 663-75, 2001 Aug.
Article in English | MEDLINE | ID: mdl-11517719

ABSTRACT

The use of natural and artificial barriers to mitigate pesticide drift from agricultural and forest applications is discussed. This technique has been considered as an alternative to current methods at a time when environmental concerns are under great public scrutiny. There has been a variety of research experiments on this subject from New Zealand to The Netherlands which have documented reductions in spray drift of up to 80-90%. However, there are still enormous data gaps to utilize this method accurately. The aerodynamic factors of wind barriers and shelter effects on crop growth and yield have been well investigated. In contrast, some of the important aspects of drift mitigation, e.g. porosity and turbulence, have been difficult to obtain and no standard methodologies are currently available to evaluate and classify windbreaks and shelterbelts or to determine their efficiency in reducing drift. Thus there is a significant opportunity to incorporate windbreaks into the tool set of drift mitigation tactics. Government policies, initiatives, legislation, etc, which currently address water quality, BMP, stewardship, buffers, etc, are issues which so far have not included windbreaks as a valuable drift mitigation strategy.


Subject(s)
Air Pollutants/analysis , Air Pollution/prevention & control , Pesticides/analysis , Wind , Agriculture , Crops, Agricultural/growth & development , Forestry , Models, Biological
16.
Neurosurgery ; 47(4): 966-8, 2000 Oct.
Article in English | MEDLINE | ID: mdl-11014438

ABSTRACT

OBJECTIVE AND IMPORTANCE: A rare case of bilateral cerebellopontine angle (CPA) arachnoid cysts (ACs), accompanied by cerebellar tonsillar displacement toward the foramen magnum, is presented. CLINICAL PRESENTATION: A 45-year-old woman presented with progressive dysphagia, vertigo, and truncal ataxia. Magnetic resonance imaging revealed bilateral CPA ACs and cerebellar tonsillar displacement. INTERVENTION: The right CPA AC was excised via a suboccipital approach. Decompression of the foramen magnum and duraplasty were also performed. CONCLUSION: The case reported here is the first case of bilateral CPA ACs. Decompression of the foramen magnum and excision of the cyst resulted in complete relief of symptoms.


Subject(s)
Arachnoid Cysts/diagnosis , Cerebellopontine Angle , Arachnoid Cysts/surgery , Decompression, Surgical , Dura Mater/surgery , Female , Humans , Magnetic Resonance Imaging , Middle Aged , Neurosurgical Procedures
17.
Acta Neurochir (Wien) ; 139(3): 203-7, 1997.
Article in English | MEDLINE | ID: mdl-9143585

ABSTRACT

In conservative management of extradural haematomas (EDH), several mechanisms were described to explain the resorption of the haematoma. One of these was the transfer of the clot into the epicranial space through the skull fracture. In this study, the effects of skull fracture and associated intracranial lesions in the conservative management of EDH were investigated. Skull fracture and associated intracranial lesions were found in 71.11% and 51.1% of the patients, respectively. Resorption rate was calculated using an original formula and it was 0.548 +/- 0.227 in patients with skull fracture and 0.507 +/- 0.170 in patients with both skull fractures and additional intracranial lesions. These rates were found to be significantly higher than in the patients without fracture. In conclusion, in the patients with EDH planned to be managed conservatively, skull fracture and additional intracranial lesions must not be thought as risk factors, on the contrary, resorption of the clot might be earlier than in the others.


Subject(s)
Hematoma, Epidural, Cranial/diagnostic imaging , Skull Fractures/diagnostic imaging , Tomography, X-Ray Computed , Absorption , Adolescent , Adult , Child , Child, Preschool , Female , Follow-Up Studies , Humans , Male , Middle Aged , Risk Factors
18.
Acta Neurochir (Wien) ; 121(1-2): 48-52, 1993.
Article in English | MEDLINE | ID: mdl-8475807

ABSTRACT

Conservative management of epidural haematoma (EDH) depends on a balance between expansion and resorption rate of the clot. 15 patients with EDH whose CT scans demonstrated a small EDH and were asymptomatic or with minor symptoms or with a delayed diagnosis were treated conservatively. The thickness of haematoma ranged between 4.9-40.8 mm. In two patients, the haematoma extended from the posterior fossa to the supratentorial region. In 7 patients, additional intracranial pathology was detected. None of the patients had neurological deterioration on follow up. The second CT was performed on second day at the earliest, in fourth week at the latest. We conclude that the patients with EDH who are neurologically stable during the first 24 hours after trauma, with small EDH and with minor or no symptoms or signs, might be candidates for conservative management. An absolute precondition for conservative management is close supervision of the patient.


Subject(s)
Hematoma, Epidural, Cranial/therapy , Adolescent , Adult , Brain Damage, Chronic/diagnostic imaging , Brain Damage, Chronic/therapy , Child , Female , Follow-Up Studies , Glasgow Coma Scale , Head Injuries, Closed/diagnostic imaging , Head Injuries, Closed/therapy , Hematoma, Epidural, Cranial/diagnostic imaging , Humans , Male , Neurologic Examination , Prospective Studies , Tomography, X-Ray Computed
19.
Biotechnol Bioeng ; 33(9): 1213-8, 1989 Apr 05.
Article in English | MEDLINE | ID: mdl-18588041

ABSTRACT

In the study of hydrolysis of tributyrin by the lipase of Candida cylindracea, it is shown that initial rates of hydrolysis are directly proportional to the amount of enzyme adsorbed at the substrate-water interface. As a consequence of understanding the role of the physical state of the substrate in aqueous reaction media, it was hypothesized that the inclusion of synthetic (nonsubstrate) surfaces into the reaction media may enhance the hydrolysis rate of simple liquid lipids which are partly soluble in water, like triacetin. Nonpolar n-hydrocarbons having 5-11 carbon atoms were used to create interfaces in the hydrolysis of triacetin in the soluble range. All of the C(5)-C(11) hydrocarbons showed an activating effect. For quantitative evaluation of the effects of n-hydrocarbons, n-heptane was chosen as the model n-hydrocarbon. Interrelations between the reaction kinetics and adsorption of the enzyme at the n-heptane-water interface were experimentally determined by the use of the same in-line filtration device used for the tributyrin-water system. At 35 degrees C and pH 6 the relative values of the rate constants for the decomposition of enzyme-interface-substrate complexes were calculated as 12 and 1 for the tributyrin and n-heptane-triacetin systems, respectively. The nature of activation at the solvent surfaces were accounted for by a kinetic model which assumes simultaneous adsorption of enzyme and triacetin molecules at the n-heptane-water interface. Making use of the proposed model, the value of a the apparent Michaelis constant for the soluble triacetin-n-heptane system at constant n-heptane concentration, 2 vol %, was calculated as 0.044 mol/L.

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