The KBG syndrome: confirmation of autosomal dominant inheritance and further delineation of the phenotype

We report on a Turkish family in which the father and his two sons were diagnosed as having the KBG syndrome. Large upper central incisors were the diagnostic finding in all three patients along with mental retardation, cryptorchidism, skeletal abnormalities, and short stature. Our report clearly confirms that the inheritance is autosomal dominant in KBG syndrome, although a high male to female ratio has been observed in published cases.     

Expression of P fimbriae of uropathogenic Escherichia coli strains

The occurrence of P fimbriae in a total of 222 uropathogenic Escherichia coli (UPEC) strains was investigated. Out of the total, 31 (14%) were P fimbriated. Of 24 pyelonephritogenic E. coli strains, three (13%) with P fimbriae occurred in children with clinical pyelonephritis, and of 198 E. coli strains 29 (15%) occurred in children with cystitis. Prevalence of P fimbriae of E. coli strains was found to be quite similar in patients with cystitis and pyelonephritis     

Pituitary adenomas: results of 684 surgically treated patients and review of the literature

BACKGROUND: The outcome of patients with pituitary adenomas who were treated surgically with or without postoperative radiotherapy was analyzed. The purpose of this study was to determine the factors that strongly influence (A) tumor control, (B) the efficacy of surgery, and (C) radiotherapy based on the hormonal activity of adenomas and its invasion characteristics. METHODS: Between 1982-1996, 684 patients with the diagnosis of pituitary adenoma were operated on. The mean age was 38 years and the mean follow-up time was 40.5 months. A total of 516 patients who were followed for more than 1 year were studied to analyze the effect of treatment modalities and invasion characteristics on tumor control. There were 297 patients with prolactinomas, 118 patients with somatotropinomas, 45 with corticotropinomas, 17 with mixed adenomas, two with thyrotropinomas, and 205 with null cell adenomas. All patients were classified according to Hardy's modified radiological classification scheme and analyzed in invasive and noninvasive groups individually based on this classification system. In the early postoperative period, 230 of these patients were given conventional radiotherapy with a mean dose of 4400 cGy. The following factors were analyzed for prognostic significance in tumor control: the effects of surgery and radiotherapy based on tumor types and invasion characteristics, the existence of histologically proven invasion of the dura mater overlying the sellar floor, and the early results of topical bromocriptine application in macroprolactinoma patients. RESULTS: Overall surgical complications and mortality rate were similar to those of large series reported in the literature. Except for the invasive somatotropinomas and null cell adenomas, statistical analysis demonstrated the ineffectiveness of radiotherapy on tumor control. We did not detect any positive correlation between the recurrence rate and mean recurrence time or dural invasion of the sellar floor. Topical bromocriptine application seemed to improve tumor control in 21 selected macroprolactinoma patients. CONCLUSION: Conventional radiotherapy is not as effective as expected, considering its adverse effects. The increased side effects of radiotherapy in cases with supra-parasellar extension, especially to the optic pathway and hypothalamus, limit its benefits, which could be demonstrated only in invasive somatotropinomas and null cell adenomas. In contrast with our current beliefs, tumoral infiltration of the sellar dura mater is not a prognostic factor for recurrence and therefore should not be a criterion for radiotherapy after surgery. Topical application of bromocriptine into the sellar cavity after tumor removal seems to provide superior results compared with the conventional treatment modalities.     

Isolated sphenoid sinus abscess: clinical and radiological failure in preoperative diagnosis. Case report and review of the literature

BACKGROUND: Isolated sphenoid sinusitis and abscess formation is a rare entity, which can lead to misdiagnosed or improperly treated patients and an unfavorable outcome. Invasion of the skull base and cavernous sinus usually causes cranial nerve palsies, suggesting a neoplasm at the initial presentation. CASE DESCRIPTION: A case of isolated abscess in the sphenoid sinus is reported. The complete destruction of the clivus and its unexceptional radiological data, in addition to the absence of clinical and laboratory evidence of infection, led us to misdiagnose a possible clival chordoma during preoperative evaluation. The patient underwent an endonasal-transsphenoidal procedure for diagnosis and surgical removal. Surgical drainage and prolonged antimicrobial treatment resulted in complete clinical recovery. CONCLUSION: Its close proximity to vital structures and slender bony structures may allow the infection to disseminate, with serious neurological complications. On the other hand, the variable clinical presentations and radiological data usually cause delayed or missed diagnosis in these cases. This emphasizes the importance of documentation of this unusual entity and its radiological manifestations.     

Left Ventricular Dyssynchrony and Its Effects on Cardiac Function in Patients with Newly Diagnosed Hypertension

Objectives: Left ventricular (LV) systolic synchrony, defined as simultaneous peak contractions of corresponding cardiac segments, is well documented to be impaired in hypertension but its effect on LV function is not clear. The aim of this study was to assess the impacts of LV systolic dyssynchrony on LV function in newly diagnosed hypertensives. Methods: Forty-eight newly diagnosed hypertensive patients and 33 controls were enrolled. All study population underwent a comprehensive echocardiographic evaluation including tissue synchrony imaging. The time to regional peak systolic tissue velocity (Ts) in LV by 12 segmental models was measured and two parameters of systolic dyssynchrony were computed. Results: Baseline demographic characteristics were similar in both study groups. Dyssynchrony parameters prolonged in newly diagnosed hypertensive patients compared to controls: the standard deviation (SD) of 12 LV segments Ts (40.2 ± 21 vs. 26.2 ± 13.4, P = 0.003); the maximal difference in Ts between any 2 of 12 LV segments (123.3 ± 61.5 vs. 79.8 ± 37.9, P = 0.001). In multivariable analysis, Ts-SD-12 was found to be an independent predictor for systolic function (β=-0.29, P = 0.008). But, both diastolic and global functions were not independently related to Ts-SD-12. Conclusion: LV synchronization is impaired in newly diagnosed hypertensive patients. LV dyssynchrony is one of the independent predictors of systolic function in hypertensive patients.     

Effect of prayer on osteoarthritis and osteoporosis

Prayer is one kind of worship that is composed of repetitive action during praying in Islam. The prayer is performed five times a day, every Friday, bairams and death ceremonies. The aim of this study is to search the role of this repetitive action on knee, hip osteoarthritis and osteoporosis. Forty-six patients who had been performing the prayer at least for 10 years, and 40 patients who had not performed the prayer, were included in this prospective study. Each patient was evaluated with standard questionnaire form, joint examination was done and various laboratory parameters were studied. Anterior–posterior radiography of the pelvis and weight-bearing knees of each patient were examined. Each film was evaluated by two investigators separately and first scored by using Kellgren and Lawrence (K&L) scale, then the width of the joint space of hips and knees were measured directly using a steel ruler and recorded to the nearest half millimeter. Bone mineral density (BMD) of lumbar spine and femur was measured. Patients having Heberden’s nodes, Bouchard’s nodes, and carpometacarpal disease were frequent in worshiper group. Joint space width measurements and assessment according to K&L scale did not differ between worshipers and non-worshipers. BMD of lumbar spine was decreased in worshipers and also decreased with patients having Heberden’s nodes, Bouchard’s nodes, female gender and age. Prayer has no effect on knee and hip osteoarthritis, and may be related with hand osteoarthritis. It seems to have negative effect on lumbar BMD, but further investigations are needed.     

Left main coronary artery aneurysm

Left main coronary artery aneurysm is rare finding at coronary angiography. We report a case of a large left main coronary artery aneurysm in a 59-year-old male who had cardiac catheterization for effort angina and inducible myocardial ischemia.     

Association of the angiotensinogen M235T and angiotensin-converting enzyme insertion/deletion gene polymorphisms in Turkish type 2 diabetic patients with and without nephropathy

OBJECTIVE: Recent studies have suggested an association between a deletion variant of the angiotensin-converting enzyme (ACE) gene and diabetic nephropathy. However, this finding has not been confirmed by all investigators. Furthermore, an M235T variant of the angiotensinogen (AGT) gene has been associated with hypertension, an important risk factor for the development and progression of diabetic nephropathy. RESEARCH DESIGN AND METHODS: We investigated the relationship of the ACE insertion/deletion (I/D) and AGT M235T gene polymorphisms in Turkish patients with type 2 diabetes mellitus (DM) with and without diabetic nephropathy. A total of 102 individuals were screened for the presence of the ACE I/D and AGT M235T polymorphism: 46 individuals who had type 2 DM with diabetic nephropathy and, as controls, 56 individuals who had type 2 DM without diabetic nephropathy. Gene polymorphisms were determined by the specific melting temperature (T(m)) values of the resulting amplicons after real-time online polymerase chain reaction and melting curve analysis. RESULTS: The frequencies of the ACE DD, ID, and II genotypes were 34.8%, 37.0%, and 28.3%, respectively, among type 2 diabetic patients with nephropathy, and 33.9%, 42.9%, 23.2%, respectively (P=.788), in the control subjects without diabetic nephropathy. On the other hand, the frequencies of the AGT MM, MT, and TT genotypes among the same groups were 26.1%, 52.2%, 21.7% and 26.8%, 57.1%, 16.1%, respectively (P=.758). CONCLUSIONS: There were no differences in the frequencies of the AGT M235T and ACE I/D genotypes between Turkish patients with type 2 DM with and without nephropathy.