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Biomedical subjects

A Metin

Publications and source records attributed to A Metin.

At least 19 recordsLinked to original sources

Cutaneous findings encountered in brucellosis and review of the literature.

BACKGROUND: Human brucellosis is an infectious disease produced by Brucella species: small, coccoid or rod-like, aerobic, Gram-negative bacteria. The infection is common in developing countries, and can also affect the skin. Its prevalence is high in our region of Turkey, where stockbreeding is one of the main economic sources, compared with the industrially developed areas of Turkey, and dermatologic complaints due to brucellosis are fairly common. MATERIALS AND METHODS: One hundred and three patients with serologically and clinically confirmed brucellosis were studied in order to investigate the prevalence of cutaneous findings and their variability in brucellosis. Fifty-two (50.49%) were males and 51 (49.51%) were females with an age range of 4-70 years (mean, 30.45 +/- 15.08 years). RESULTS: Of these patients, 14 (13.59%) had cutaneous findings probably related to brucellosis. These findings were more frequent in females (11 cases) than males, and most of the females (eight cases) were housewives; three were students. Urticaria-like papules and plaques were the most common findings; they were seen in six (35.3%) patients. One case had livedo reticularis and another palmar erythema, which have not been reported previously. No relationship was observed between the serologic values and the cutaneous findings. CONCLUSIONS: Cutaneous findings in our cases were more prevalent than in other reported studies. It is important to emphasize that cutaneous lesions are not specific to brucellosis and may be seen in a variety of other dermatologic diseases caused by many agents; therefore, these agents should be kept in mind in the differential diagnosis.

Adolescent↗

A stop codon in xeroderma pigmentosum group C families in Turkey and Italy: molecular genetic evidence for a common ancestor.

Xeroderma pigmentosum family G from Van, Turkey had two severely affected children: a son with multiple skin cancers who died at age 10 (XP67TMA), and an 8 y old daughter who began developing skin cancer before 3 y of age (XP68TMA). XP67TMA and XP68TMA cells were hypersensitive to killing by ultraviolet and the post-ultraviolet DNA repair level was 12-16% of normal. Host cell reactivation of an ultraviolet-treated reporter plasmid cotransfected with a vector expressing wild-type XPC cDNA assigned XP67TMA to xeroderma pigmentosum complementation group C. The XPC mRNA level was markedly reduced. Sequencing of the 3.5 kb XPC cDNA from XP67TMA showed a C-T mutation in XPC exon 8 at base pair 1840. This mutation converts the CGA codon of arginine at amino acid 579 to a UGA stop codon resulting in marked truncation of the 940 amino acid xeroderma pigmentosum C protein. Restriction fragment length polymorphism analysis of XPC exon 8 DNA in XP67TMA and XP68TMA showed that both affected children had a homozygous mutation and that both parents had heterozygous normal and mutated sequences at the same position consistent with a history of consanguinity in the family. The mutated allele also contained two XPC single nucleotide polymorphisms. The same mutated XPC allele was reported in an Italian family. Studies of 19 microsatellite markers flanking the XPC gene on chromosome 3 suggest that the XPC allele passed between Italy and Turkey approximately 300-500 y ago. This XPC allele containing a nonsense mutation is associated with severe clinical disease with multiple skin cancers and early death.

Adult↗

The rate of urgency symptoms in women with stress urinary incontinence and nomogram based bladder outlet obstruction.

We reviewed the charts of 132 women 30 of whom were chosen as obstructed, 30 equivocal and 72 as unobstructed by automatically given nomograms in the urodynamic evaluation for stress incontinence. The rates of urgency symptoms in nomogram based obstructed, equivocal and unobstructed cases of stress incontinence were found in 30%, 23.3% and 12.5% respectively. More urgency symptoms were observed in women with stress incontinence and nomogram based bladder outlet obstruction than in equivocal and unobstructed cases.

Adult↗

Transient hypogammaglobulinemia of infancy: clinical and immunologic features of 40 new cases.

BACKGROUND: Transient hypogammaglobulinemia of infancy (THI) results from a delay in the maturation of immunoglobulin production. METHODS: The clinical and immunologic data of 40 patients with THI are presented. Clinically, the majority of patients presented with recurrent respiratory infections and otitis media, bronchitis and/or bronchial asthma and recurrent gastroenteritis. RESULTS: Ten of 40 children had isolated low IgG; isolated low IgA and isolated low IgM were detected in one and three patients, respectively. At initial evaluation, levels of all three immunoglobluins were low in nine patients. Ten patients had diminished IgG and IgA levels, six had diminished IgA and IgM levels and one had low IgG and IgM levels. Two patients were given intravenous immunoglobulin replacement therapy for 1 year. None of the patients has experienced serious infections during their follow-up period. CONCLUSIONS: Prospective evaluation of patients (age range 5-60 months) revealed that immunoglobulin levels in 33 patients recovered before 36 months of age. Seven patients still had low immunoglobluin levels at 40-57 months of age. Three of these patients had low levels of both IgG and IgA, while two patients had low IgM levels and a further two patients had low IgA levels.

Agammaglobulinemia↗

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↗