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Biomedical subjects

A Metin

Publications and source records attributed to A Metin.

At least 37 records · Page 2Linked to original sources

Atypical fibroxanthoma of the skin and the lower lip in xeroderma pigmentosum.

Xeroderma pigmentosum (XP) is a rare, usually autosomal recessive disorder related to DNA repair defects. Atypical fibroxanthoma (AFX) is a pleomorphic tumour that occurs infrequently on the limbs and trunk in children. We report a child with XP who presented with AFX of the facial skin and the lower lip. The diagnosis of AFX was confirmed using histological and immunohistochemical techniques. We discuss the possibility that ultraviolet-induced damage might be implicated in the pathogenesis of AFX.

Carcinoma, Squamous Cell↗

Deep dorsal vein arterialization in pure cavernoocclusive dysfunction.

PURPOSE: We report our 4-year experience with deep dorsal vein arterialization at 3 years' follow-up in young patients with pure cavernoocclusive dysfunction as an alternative to penile prosthesis implantation. MATERIALS AND METHODS: We performed a modified Furlow-Fisher operation (circumflex collaterals are preserved and the deep dorsal venous valves are not disrupted by a stipper) in 25 patients who did not have risk factors such as general arteriosclerosis, coronary heart disease, hypertension, hyperlipidemia and age (over 40 years). Patients with arterial disease diagnosed by Doppler examination were excluded from the study. Also, patients with abnormal penile biothesiometric and electromyographic findings were not included in the study. Beside the subjective and objective evaluation the efficacy of the operation was also assessed retrospectively in 18 patients by telephone according to items 3 (ability to achieve an erection) and 4 (ability to maintain an erection) of the 15-item International Index of Erectile Function (IIEF). RESULTS: With a mean follow-up of 28 months (range 4-42) subjective and objective success rates were 80 and 72% at 1 year's 75 and 62.5% at 2 years', and 70 and 60% at 3 years' follow-up. According to items 3 and 4 of the 15 item IIEF questionnaire the mean postoperative scores reached 1.55-3.44 and 1. 33-3.27 for items 3 and 4, respectively (p<0.01). Two patients (8%) showed signs of glans hypervascularization as a major complication and minor complications such as penile skin edema, subdermal hematoma, loss of penile skin sensation and early thrombosis of the anastomosis were found in a total of 8 patients (32%). CONCLUSIONS: Deep dorsal vein arterialization is a preferable choice in highly selected young patients as an alternative to penile prosthesis.

Adult↗

Polymorphism of the fourth component of complement in Turks.

An analysis of polymorphism in the fourth component of human complement (C4) was performed on EDTA-plasma from 142 unrelated, randomly selected Turks without collagen-vascular disease or recurrent infections. Plasma samples treated with neuraminidase and carboxypeptidase-B were subjected to high-voltage agarose gel electrophoresis followed by immunofixation. C4B allotypes were further detected in some samples by Western blots with monoclonal antibody 1228 (anti-C4B/Ch1 reactivity). The frequencies of C4A and C4B alleles were determined. Allele C4B*5, which has been found to be relatively common in Asian (Oriental) populations, was not detected in this study. No specific predilection could be noted among the rare variants. C4A*3-C4B*1 was the most common haplotype (n = 40/142, or 28%) but was found less frequently than in Caucasian populations. This finding may be the result of the limited number of samples examined. C4A and/or C4B null allotypes were seen in 49 of 142 (34.6%) subjects. The most frequent C4 null allotype seen was C4B null (37/142, or 26%): 28 subjects had one C4B null allele; 1 had a homozygous deficiency of C4B (C4B*QO, *QO) and 7 had C4A*QO C4B*QO, a double heterozygous haplotype. Frequencies of homozygous haplotype C4A*Q0-C4B*Q0 in the population studied were found to be 0.007. The results of this study demonstrate that the genetic composition of the Turkish population exhibits both similarities and differences with the European population, and ranges between Caucasian and Mongoloid (Asian) populations.

Alleles↗

Otorhinolaryngological aspects of Xeroderma pigmentosum.

OBJECTIVE: to evaluate the probable presence of otorhinolaryngological pathology accompanied by head and neck region skin findings in patients with Xeroderma pigmentosum. METHODS: a total of 19 patients with Xeroderma pigmentosum were investigated for otorhinolaryngological findings. The patients gave their anamnesis and underwent physical examination, audiological tests and endoscopic examination. RESULTS: various malignancies developed in 14 patients on the sun-exposed areas of the head and neck region. Multiple malignancies were found in six of them. There was no other pathological condition secondary to this rare clinical entity. CONCLUSION: Xeroderma pigmentosum causes skin lesions. Some otolaryngological findings such as rhinitis, sinusitis etc. were thought to be coincidental.

Adolescent↗

Impaired IgG antibody production to pneumococcal polysaccharides in patients with ataxia-telangiectasia.

Various factors seem to be etiologic in the susceptibility to sinopulmonary infections in ataxia-telangiectasia (A-T) patients, i.e., low serum and salivary IgA, low serum IgG2, and even aspiration of saliva. S. pneumoniae is a common pathogen responsible from pulmonary infections and impaired antibody response to polysaccharide antigens is seen in patients with IgG2 and IgA deficiency as well as patients with CVID and WAS. We studied IgG-type antibody production to six pneumococcal serotypes in 29 A-T patients by ELISA before and 3-4 weeks after pneumococcal vaccine. The response was considered positive when the antibody titer was >10 U/ml but weak when the titer was 10-20 U/ml. Twenty-two of 29 (76%) patients did not respond to any of the serotypes, 5 (17%) showed a positive response to one serotype, 1 (3.4%) to two serotypes, and 1 (3.4%) to four serotypes. With conversion to gravimetric units (ng IgG/ml) and >1800 ng/ml (300 ng Ab N/ml) considered a positive response, 5 of 29 (17.2%) patients showed a positive response (300 ng ab N/ml) to two or fewer serotypes. All patients tested produced IgG antibody to tetanus toxoid. Sixteen of 27 (59.3%) patients had low IgG2 and four (14.8%) had low IgG3 levels, while 18 (62.1%) of 29 patients had low serum IgA. No correlation was found either between serum Ig isotype levels and antipolysaccharide antibody response or between susceptibility to infection and antibody production. The mechanism responsible for disturbed antipolysaccharide (TI-2 antigen) antibody production in patients with A-T needs to be investigated. It may provide additional information on the function of the ATM gene product and be helpful in clarifying the role of B cells and contribution of T cells in TI-2 responses.

Adolescent↗

Successful bone marrow transplantation in a case of Griscelli disease which presented in accelerated phase with neurological involvement.

Griscelli disease (GD) is a rare disorder characterized by pigment dilution, immunodeficiency and occurrence of accelerated phase consisting of hemophagocytosis, pancytopenia and neurological manifestations. Allogeneic BMT in the early period is an important modality of treatment for GD. We carried out an alloBMT from an HLA-identical sibling donor on a 4-year-old girl who presented in accelerated phase with neurological manifestations including convulsions, strabismus, severe dysarthria, ataxia and clonus. She was treated with etoposide, methylprednisolone and intrathecal methotrexate for 8 weeks and underwent alloBMT after receiving a conditioning regimen including ATG (rabbit, 10 mg/kg x 5 days), Bu/Cy. 8 x 108/kg nucleated bone marrow cells were given. Engraftment occurred early and the post-BMT period was uneventful. Currently, she is at 18 months post BMT with sustained engraftment and with a normal neurological examination except for minimal clonus. Long-term follow-up will determine the prognosis regarding the neurological findings.

Bone Marrow Transplantation↗

The coexistence of intrinsic sphincter deficiency with type II stress incontinence.

PURPOSE: We investigate the coexistence of intrinsic sphincter deficiency and urethral hypermobility with type II stress incontinence and moderate cystocele. MATERIALS AND METHODS: Abdominal leak point pressure measurements were performed during cystometric evaluation with Valsalva's maneuvers in 50 consecutive women 33 to 73 years old (mean age 48.8) diagnosed with urethral hypermobility and moderate cystocele on pelvic examination and cotton swab test. Patients with unstable detrusor contractions or urgency with detrusor hypocompliance were excluded from the study. RESULTS: Of the 50 women 36 (72%) had pure urethral hypermobility, and 14 (28%) were diagnosed with intrinsic sphincteric deficiency and hypermobility (mixed incontinence group), including 6 (42.8%) who had undergone previous surgery. No predisposing factor responsible for intrinsic sphincteric deficiency was noted in 8 mixed incontinence group patients (57.2%). CONCLUSIONS: The high rate of intrinsic sphincteric deficiency in patients with urethral hypermobility indicates that the incidence with stress incontinence may be greater than previously believed, and may influence the apparently higher failure rates after bladder neck suspension. We believe that leak point pressure measurements are not necessary with sling procedures which correct urethral hypermobility and intrinsic sphincter deficiency but are required if bladder neck suspension is planned.

Adult↗

Modified four corner bladder neck suspension in anatomical stress incontinence with moderate cystocele.

We aimed to evaluate the efficacy and the short- and long-term results of the modified four corner bladder neck suspension (FCBNS) procedure in the correction of type 2 stress urinary incontinence with moderate cystocele. We studied retrospectively 26 consecutive patients who underwent modified FCBNS procedure during a 2-year period at our institution. The modifications that were made were the distal sutures starting from the midurethra as a coil fashion of three centimetres to the bladder neck and its fixation to the pubic bone. Preoperative questionnaires, hospital and clinical records, and postoperative questionnaires were reviewed to assess comparative outcome among the patients. Patient follow-up ranged from 22 to 47 months (mean 33.5). The mean age at the time of surgery was 55.3 +/- 11.6, and mean parity was 3.2 +/- 1.3. Twenty-five of 26 women (96%) were cured after six months and 24 of 26 (92%) were cured after twenty-one months. Cystoceles were completely reduced. Complications occurred in 15% of the patients. The modified FCBNS is a useful and effective operation in treating anatomical stress urinary incontinence and an associated moderate cystocele since it elevates and supports midurethra as well in selected patients and it is associated with a low incidence of postoperative complications.

Adult↗

Experiences with clam ileocystoplasty.

Clam ileocystoplasty was performed in 18 patients with urge incontinence, total incontinence or enuresis with instable detrusor. Although the persistence of detrusor instability was observed in 33.33% of the patients, complete clinical cure was found in 72.23 and symptomatic improvement was 22.22%.

Adult↗

Is apolipoprotein-(a) an important indicator of vasculogenic erectile dysfunction?

We aimed to investigate whether high peripheral and cavernosal plasma levels of apolipoprotein-(a) [Lp (a)] is an indicator for vasculogenic erectile dysfunction. We determined Lp (a), total cholesterol (TC), triglyceride (TG) and high density lipoprotein (HDL) levels in peripheral and cavernosal blood in 39 patients with erectile dysfunction. Thirty-nine impotent patients have been divided into two groups: vasculogenic erectile dysfunction (VED) and nonvasculogenic erectile dysfunction (NVED), according to colour Doppler ultrasonic flowmetry, dynamic infusion cavernosometry, and the pressure difference between the brachial arterial systolic pressure and cavernosal arterial systolic pressure measurements. Biochemical values were compared in both groups. Lp (a) and TC levels were higher in both peripheral and cavernosal samples of VED group than in NVED group, with no differences between peripheral and cavernosal blood levels within the same groups. There were no significant changes in TG and HDL levels in either group. The detection of more than 31 mg/dl in Lp (a) level solely shows the vascular origin with a sensitivity and specificity of 95 and 82.3%, respectively. High Lp (a) levels can be considered an indicator of vasculogenic erectile dysfunction.

Adult↗

Rothmund Thomson syndrome associated with esophageal stenosis: report of a case.

Rothmund Thomson syndrome (RTS) is a rare autosomal recessive disorder which is primarily diagnosed by clinical manifestations that include poikiloderma, short stature, sparse hair distribution, juvenile cataracts, small hands and feet, bone defects, photosensitivity, hypogonadism, defective dentition, onychodystrophy, and hyperkeratosis. Although a few reports have been published on patients with RTS associated with gastrointestinal abnormalities, to our knowledge the case described herein is the first documentation of a patient with RTS having upper esophageal stenosis.

Adult↗

Cyproterone acetate monotherapy in advanced prostatic carcinoma.

Cyproterone acetate was given as monotherapy to 18 patients with advanced prostatic carcinoma at a weekly dose of 300 mg. Progression was observed in all of the patients; median time to progression was 35 months and median survival time was 48 months. Partial response, stabilization, progression and exitus rates by years also showed favourable results, as compared with other forms of therapy in advanced prostatic carcinoma.

Aged↗

Electrical activity of corpus cavernosum in vasculogenic and non-vasculogenic erectile dysfunction.

We aimed to compare the electrical activity of corpus cavernosum before and after intracavernous papaverine injection and to determine the blood lipid profile in vascular and non-vascular erectile dysfunction, and also to assess whether vascular pathology and abnormal blood lipid levels impair cavernosal smooth-muscle relaxation. We determined total cholesterol (TC), triglyceride (TG) and high-density lipoprotein (HDL) levels in peripheral and cavernosal blood in 39 patients with erectile dysfunction. Electromyography of the corpus cavernosum was performed before and after an intracavernous injection with 60 mg of papaverine in all patients. Thirty-nine impotent patients have been divided into two groups: vasculogenic erectile dysfunction (VED) and non-vasculogenic erectile dysfunction (NVED), according to colour Doppler ultrasonic flowmetry, dynamic infusion cavernosometry and the pressure difference between the brachial arterial systolic pressure and cavernosal arterial systolic pressure measurements. Biochemical values and amplitude changes were compared in both groups. The TC level was higher in both peripheral and cavernosal samples of the VED group than in the NVED group (p = 0.000), with no differences between peripheral and cavernosal blood levels within the same groups (p > 0.05). There were no significant changes in TG and HDL levels in any of the groups (p > 0.05). The mean amplitude differences before and after papaverine injection (delta A) were found to be 2.05 +/- 0.78 microV in the VED group and 4.68 +/- 2.53 microV in the NVED group, showing that the relaxation response to papaverine was more significant in the NVED than in the VED group (p = 0.003). The moderate decreases in the amplitude of electrical activity of corpus cavernosum and the higher TC levels found in the VED group can be accepted as the parameters of impairment in the relaxation of corpus cavernosum, showing the role of hypercholesterolaemia and vascular pathologies in erectile dysfunction.

Adult↗

Import catheter in erectile dysfunction.

PURPOSE: We propose an alternative technique for intracavernous self-injection of sodium nitroprusside for erectile dysfunction by inserting a Medtronic ImPort* catheter with a valved tip. MATERIALS AND METHODS: A silicone catheter was implanted in 3 patients with psychogenic impotence. The reservoir, which is used for vasoactive agent injection, was implanted laterally to the anterosuperior iliac spine and the distal tip of the catheter was inserted into the corpora cavernosa via a subcutaneous tunnel. The injection technique was taught to the patient and the initial injection was performed 1 week later. RESULTS: All patients and partners were satisfied with the technique and quality of erections at a mean followup of 14 months. There were no major local complications due to catheter implantation and no systemic complications due to sodium nitroprusside injection. CONCLUSIONS: An alternative technique for intracavernous pharmacotherapy of inserting an ImPort catheter prevented the complications of intracavernous injections in patients with erectile dysfunction.

Adult↗

Multifactorial evaluation of diabetic erectile dysfunction.

We determined arterial venous and sinusoidal factors in 20 patients with insulin dependent diabetes mellitus and erectile dysfunction by performing dynamic infusion cavernosometry (DIC), colour flow Doppler ultrasonography, penile biothesiometry and corpus cavernosum electromyography (CCE). DIC, colour flow Doppler ultrasonography and penile biothesiometry were done in standard fashion except for CCE. Paradoxical increase in the electrical activity of corpus cavernosum after intracavernous (IC) papaverine was called a discoordination that was due to cavernous smooth muscle contraction instead of relaxation. Arterial and accompanying pathologies were found in 10 (50%) patients. In 3 (15%) of them pure arterial pathology, in 6 (30%) patients arterial and veno-occlusive dysfunction (VOD) and in one patient arterial pathology with abnormal biothesiometry were found. VOD and accompanying pathologies were found in 12 (60%) patients. In 6 (30%) of them VOD and arterial, in 4 (20%) patients VOD and discoordination and in 2 (10%) patients VOD and abnormal biothesiometric values were present. A higher frequency and coexistence of VOD and discoordination pattern were observed. In conclusion, patients with diabetic impotence show a wide range pathophysiology of erection and the evaluation of these patients must include multistep techniques.

Adult↗

Electrical activity of the corpus cavernosum in patients with corporal veno-occlusive dysfunction.

OBJECTIVE: To determine whether the pattern of discoordination (an increase in electrical activity of the corpus cavernosum after an intracavernous injection with papaverine and which results in the contraction of the cavernous smooth muscles instead of relaxation) is an aetiological factor in veno-occlusive dysfunction (VOD). PATIENTS AND METHODS: Electromyography of the corpus cavernosum was performed before and after an intracavernous injection with 60 mg papaverine in 45 patients diagnosed as having venogenic erectile dysfunction by colour Doppler ultrasonic flowmetry and dynamic infusion cavernosometry and cavernosography. Cavernosometric values were compared in patients with and with no pattern of discoordination. RESULTS: A pattern of discoordination occurred in 14 patients (31%). There were significant differences in the cavernosometric values of patients with and with no discoordination. A poor response to papaverine and greater venous leakage were observed in the patients showing discoordination. CONCLUSION: The pattern of discoordination diagnosed by electromyography after injection with papaverine may explain some aspects of VOD and highlights the importance of performing electromyography of the corpus cavernosum in the diagnostic evaluation of VOD.

Adult↗