Intra-Arterial Infusion Chemotherapy in the Treatment of Locally Advanced Breast Cancer

The efficacy of intra-arterial infusion chemotherapy (IACT) as the first step in a combined modality therapy in the treatment of locally advanced breast cancer was evaluated in a prospective clinical study consisting of 18 patients, 15 with stage IIIB, and three with stage IV breast cancer. A combined chemotherapy using adriamycin, mitomycin C and 5-Fluorouracil were administered at 3-week intervals until sufficient regression was achieved. Objective response rate was 66.6%. Among the 14 patients who received IACT for induction, plus surgery, simultaneous adjuvant chemotherapy and radiotherapy, 7 were disease-free at a mean of 19.5 (range 4-42) months. Six patients developed various relapses at a mean of 20.6 (range 12-28) months. IACT was found to be quite effective in local control. The early systemic relapse continues to be a serious problem that needs further intervention.     

Nonsense β-thalassemia mutation at codon 37 (TGG>TGA), detected for the first time in three Turkish cases

Thalassemias are genetically heterogeneous group of disorders with reduced or absent production of globin. β-Thalassemia major can be caused by homozygosity or compound heterozygosity for β-globin gene mutation. Here we report, for the first time in Turkey, three cases who carry the nonsense β-thalassemia (β-thal) mutation at codon 37 (TGG>TGA; Trp→Stop) causing premature stop codon.     

Ligneous inflammation involving the female genital tract

Ligneous inflammation is a rare disease characterized by progressive growth of ligneous plaques on mucosal surfaces. Involvement of the female genital tract is an unusual condition. We present a patient with multifocal ligneous inflammation involving her genital tract, oral mucosa and conjunctiva. Plasminogen functional activity was 18% of normal (reference: 55-145%). Molecular analysis exhibited that her genetic status is homozygous for a combination of three polymorphisms. But no true mutation could be found in all 19 exons of the plasminogen gene. We did not observe any clinical changes, although plasminogen activity has improved in the course of 5 months of oral contraceptive therapy Most gynecologists are unfamiliar with this diagnosis and pathologists with wide experience in gynecology are unaware of this disease. However, the histology of lesions is characteristic and a diagnosis can be made quite easily once it has been considered.     

Possible cause of failure after McCall culdoplasty

Objective  

To evaluate prospectively the rate of postoperative failure of McCall culdoplasty and the presence of a history of vaginal delivery of macrosomic infants as risk factors in patients with stage III or symptomatic stage II apical prolapse without any other pelvic floor defects.     

The evaluation of cognitive functions with P300 test for chronic obstructive pulmonary disease patients in attack and stable period

OBJECTIVES: Hypoxia, in chronic obstructive pulmonary disease (COPD), leads to a decrease in cerebral perfusion and an impairment of some cognitive abilities. We aimed to investigate the relation between arterial blood gas analysis (ABA) and pulmonary function test (PFT) parameters with cognitive function of COPD patients during attack and stable period. PATIENTS AND METHODS: ABA, PFT, P300 tests of 30 patients in stabilized period and 30 patients in attack, and 17 healthy controls were evaluated. RESULTS: When both COPD groups and controls were compared, it was seen that latency of P300 was shorter in the control group (p<0.001), but there was no difference between COPD groups (p>0.05). P300 amplitude measures were lower in both COPD groups than control group, but it was not statistically significant (p>0.05). When we compared the measures of attack group, we saw that arterial oxygen tension (PaO(2)), arterial oxygen saturation (SaO(2)), forced expiratory volume in 1s (FEV(1)), FEV(1)/forced vital capacity (FVC) values increased (p<0.001), and P300 latency shortened (p<0.05) in attack group during stable period. P300 latency correlated significantly with PaO(2) (r=-0.557, p<0.001), SaO(2) (r=-0.424, p<0.001), FEV(1) (r=-0.441, p<0.001), FEV(1)/FVC (r=-0.477, p<0.001) values, and age (r=0.329, p<0.05). P300 amplitude is only correlated with PaO(2) (r=0.236, p<0.05). CONCLUSION: Longer latency of P300 appears to be an expected sequel of COPD. P300 test can be considered as a potential objective marker of cognitive impairment.     

β-Globin chain abnormalities with coexisting α-thalassemia mutations

Introduction

The frequency of hemoglobinopathies is still high in Adana, the biggest city of the Cukurova Region that is located in the southern part of Turkey. Our aim was to identify the concomitant mutations in α- and β-globin genes which lead to complex hemoglobinopathies and to establish an appropriate plan of action for each subject, particularly when prenatal diagnosis is necessary.

Material and methods

We studied the association between the β-globin gene and α-thalassemia genotypes. The reverse hybridization technique was employed to perform molecular analysis, and the results were confirmed by amplification refractory mutation system (ARMS) or restriction fragment length polymorphism (RFLP) technique.

Results

We evaluated 36 adult subjects (28 female and 8 male; age range: 18-52 years) with concomitant mutations in their α- and β-globin genes. The –α^3.7/αα deletion was the commonest defect in the α-chain as expected, followed by α^3.7/–α^3.7 deletion. Twenty-five of 36 cases were sickle cell trait with coexisting α-thalassemia, while seven Hb S/S patients had concurrent mutations in their α-genes. The coexistence of α^PolyA-2α/αα with Hb A/D and with Hb S/D, which is very uncommon, was also detected. There was a subject with compound heterozygosity for β-globin chain (–α^3.7/αα with IVSI.110/S), and also a case who had –α^3.7/αα deletion with IVSI.110/A.

Conclusions

Although limited, our data suggest that it would be valuable to study coexisting α-globin mutations in subjects with sickle cell disease or β-thalassemia trait during the screening programs for premarital couples, especially in populations with a high frequency of hemoglobinopathies.     

BRCA mutation characteristics in a series of index cases of breast cancer selected independent of family history

Certain genetic predisposition factors, such as BRCA1 and BRCA2 mutations play a pivotal role in familial breast cancer development in both males and females. Due to this, the importance and necessity of genetic screening to identify mutations affecting the population is paramount. Undergoing genetic screenings allows for a more knowledgeable risk assessment for the patients and their care providers. The aim of this study was to evaluate the prevalence of BRCA1/BRCA2 mutated genes in the Turkish population among unselected patients. To identify the molecular markers, we utilized a gene panel analysis consisting of BRCA1 and BRCA2 genes, with a next generation sequencing platform (MiSeq System, Illumina). Sequencing was performed using leukocyte DNA from breast cancer patients. In‐silico analysis for novel mutations was carried out using SIFT, PolyPhen2 and MutationTaster. BRCA1 and BRCA2 pathogenic variants were identified in 18 of 129 (14%) patients among the study population; of those 18 patients, seven (39%) were found in the BRCA1 gene and 11 (61%) in the BRCA2 gene. Ten of the eleven BRCA2 variants (90%) were novel mutations. Four of ten (40%) of the novel mutations were determined to be deleterious and six out of ten (60%) were identified as single nucleotide variations. Clinically significant mutations of the BRCA1/BRCA2 genes are related to an increased susceptibility for breast cancer. There is however, little known about BRCA mutations amongst the general population. Thus, it is important that patients are able to undergo genetic screenings and counseling. This also allows for greater care from health care providers and can only facilitate disease prevention which in turn can lead to a decreased cancer morbidity rate.     

Cochlear involvement in Familial Mediterranean Fever: a new feature of an old disease

Objectives

In this study we first aimed to assess the cochlear functions in children with Familial Mediterranean Fever. The second aim was to investigate the correlation between the hearing levels and some clinical features of Familial Mediterranean Fever including the duration of the disease, age at onset, genetic analysis and colchicine use.

Methods

Thirty-four children with Familial Mediterranean Fever and 27 age matched children were included in the study. Following otologic examination, all children underwent audiometric evaluation, including Pure Tone Average measurements and Distortion Product Otoaoustic Emission testing. Audiological results of the two groups were compared and correlation between the audiologic status and clinical parameters of the disease like the duration of disease, age at onset, mutations and colchicine treatment were studied.

Results

Pure tone audiometry hearing levels were within normal levels in both groups. Hearing thresholds of Familial Mediterranean Fever patients were found to be increased at frequencies 8000, 10,000, 12,500 and 16,000 (p < 0.05). In otoacoustic emission evaluation, distortion products and signal-noise ratio of FMF children were lower in the tested frequencies, from 1400 Hz to 4000 Hz (p < 0.05). Interaction of the disease duration and age of disease onset was found to predict hearing levels, distortion products and signal-noise ratios of children with Familial Mediterranean Fever (F value = 2.034; p = 0.033).

Conclusions

To our knowledge this is the first study demonstrating cochlear involvement in children with Familial Mediterranean Fever which showed increased hearing thresholds at higher frequencies in audiometry together with decreased distortion products and signal-noise ratios demonstrated by distortion product otoacoustic emission testing. Similar studies must be carried out on adult patients to see if a clinical hearing impairment develops. The possible mechanisms that cause cochlear involvement and the effect of colchicine treatment on cochlear functions must be enlightened.     

Responsiveness of urogynecologic quality of life measurements to change after radical gynecologic surgery

Aim  

In order to assess the responsiveness of short forms of the Incontinence Impact Questionnaire (IIQ-7) and Urogenital Distress Inventory (UDI-6) in a subset of women undergoing radical operations for gynecologic cancer.