Andermann syndrome in a Turkish patient

Agenesis of the corpus callosum with peripheral neuropathy or Andermann syndrome is an autosomal recessive disorder rarely found outside certain regions of the province of Quebec, Canada. We report a 5-year-old Turkish patient with Andermann syndrome born to consanguineous parents. She presented with diffuse hypotonic weakness, predominantly in the distal extremities, and mild mental retardation. Electromyography showed axonal-demyelinating sensorimotor neuropathy. Sural nerve biopsy was compatible with demyelinating neuropathy. Cranial magnetic resonance imaging revealed total agenesis of the corpus callosum, dilatation of the interhemispheric fissure, and enlargement of the cisterna magna. The molecular genetic analysis using microsatellite DNA markers covering the agenesis of the corpus callosum with peripheral neuropathy locus on chromosome 15q13-q15 showed that the patient is homozygous for the whole region. Our findings confirm that Andermann syndrome is a genetically homogeneous disorder.     

Complementary alternative treatments used by patients with cancer in eastern Turkey

Interest in complementary-alternative medicine therapies is growing rapidly in Turkey. Therefore, the purpose of this research was to determine the types and prevalence of alternative therapies used by the patients with a diagnosis of cancer, and to determine factors influencing the choices of their therapies in Erzurum, Turkey. Approximately 10-minute face-to-face interviews were conducted with each subject in the radiation oncology department. The factors associated with the use of alternative therapies after a diagnosis of cancer were assessed by chi-square analysis. The findings indicated that complementary-alternative medicine therapies were used by 41.1% of the subjects after their diagnosis, and that all of the alternatives they used were herbs. The most commonly used herb was stinging nettle leaf (urtica dioica) or seed of nettle. Almost all (93.2%) of the herbs used were nettle. In general, especially the women and the younger patients of both genders were more likely to be using alternative therapies. There was no difference in demographic and cancer characteristics between users of alternative therapy and nonusers. More than the half of the patients using alternative therapies (54.5%) reportedly did not discuss the use of herbs with their healthcare professionals. Most of the patients using stinging nettle and other herbs therapies reported that they had heard about the use of herbs from friends or relatives (52.3%), or from the other patients in this clinic (43.2%). This study found that there is a high prevalence of alternative therapies used by patients with cancer in eastern Turkey. The use of these alternative therapies requires that nursing professionals rethink staff competency, patient assessment, and patient-focused care. Communication between patients and healthcare professionals should initiate dialogues on this topic for a better understanding of patient choices with regard to treatment options.     

Glutathione peroxidase, glutathione reductase, Cu-Zn superoxide dismutase activities, glutathione, nitric oxide, and malondialdehyde concentrations in serum of patients with chronic lymphocytic leukemia

BACKGROUND: Chronic lymphocytic leukemia (CLL) is a rare neoplasm that comprises a substantial proportion of all leukemias in middle-aged persons and is the most common type among elderly persons. The major causes are not known nor is there a detailed understanding about how the elusive origin(s) may relate to clinical expression, basic biological mechanisms, or pathogenesis. METHODS: Glutathione peroxidase (GSH-Px), glutathione reductase (GRD), Cu-Zn superoxide dismutase (Cu-Zn SOD) activities, glutathione (GSH), nitric oxide (NO(*), and malondialdehyde (MDA) concentrations were measured in serum of patients with CLL and a healthy control group. RESULTS: Serum GSH-Px, Cu-Zn SOD activities, GSH concentration were lower in patients with CLL while serum NO(*) and MDA concentrations were higher in these patients compared with the control group. Serum GRD activity was not statistically significant in patients with CLL compared with the control. However, there was no statistically significant difference in the parameters on the basis of stages in these patients. Serum GSH concentration negatively correlated with serum MDA (r=30.63, p<0.05) and NO(*) concentrations (r=0.72, p<0.05) in patients with advanced stage (III+IV). However, no other correlation could be found among the parameters in healthy controls and patients with CLL CONCLUSIONS: There is significant changes in antioxidant defense system in CLL cases, which may lead to enhanced action of oxygen radical, resulting in lipid peroxidation.     

Giant ethmoid osteoma with orbital extension presenting with epiphora

Paranasal sinus osteoma is a slow-growing, benign, encapsulated bony tumour that may be commonly asymptomatic, being detected incidentally in 1% of plain sinus radiographs or in 3% sinus computerized tomographic scans. In a patient presenting with epiphora and nasal obstruction, computed tomography disclosed a giant osteoma of the ethmoid. In this article, one patient having giant ethmoidal osteoma with orbital extension is described, and epidemiology, diagnosis, treatment, and pathological findings in paranasal sinus osteoma are reviewed.     

Treatment of humeral shaft non-unions by the Ilizarov method

Thirty-five humeral shaft non-unions treated by the Ilizarov external fixator were studied after an average of 39 months. Bone union was achieved in all but one. The mean time to union was 5.5 months (range: 3-10 months). Major pin tract problems leading to removal of the Schanz screws occurred in three patients. A radial nerve palsy developed in three patients, two recovered spontaneously and one was treated with a triple tendon transfer.     

Acute necrotizing tubulointerstitial nephritis due to systemic adenoviral infection

To date, all the reported cases of acute necrotizing tubulointerstitial nephritis (TIN) secondary to systemic adenovirus infection have occurred in individuals with primary or secondary immunodeficiency, and have resulted in renal failure and death. We present the case of a 12-year-old, immunologically competent girl who developed acute necrotizing TIN with acute renal failure (ARF), hepatitis and meningoencephalitis secondary to a systemic adenoviral infection who completely recovered with supportive care. Received: 11 February 2000 / Revised: 6 July 2000 / Accepted: 18 August 2000     

Translation,cultural adaptation,cross-validation of the Turkish diabetes quality-of-life (DQOL) measure

Objective The aim of this study was to test the validity and reliability of the Turkish version of the diabetes quality of life (DQOL) questionnaire for use with patients with diabetes. Methods Turkish version of the generic quality of life (QoL) scale 15D and DQOL, socio-demographics and clinical parameter characteristics were administered to 150 patients with type 2 diabetes. Study participants were randomly sampled from the Endocrinology and Diabetes Outpatient Department of Dr. Lutfi Kirdar Kartal Education and Research Hospital in Istanbul, Turkey. Results The Cronbach alpha coefficient of the overall DQOL scale was 0.89; the Cronbach alpha coefficient ranged from 0.80 to 0.94 for subscales. Distress, discomfort and its symptoms, depression, mobility, usual activities, and vitality on the 15 D scale had statistically significant correlations with social/vocational worry and diabetes-related worry on the DQOL scale indicating good convergent validity. Factor analysis identified four subscales: satisfaction”, impact”, “diabetes-related worry”, and “social/vocational worry”. Conclusion Statistical analyses showed that the Turkish version of the DQOL is a valid and reliable instrument to measure disease related QoL in patients with diabetes. It is a simple and quick screening tool with about 15 ± 5.8 min administration time for measuring QoL in this population.     

Conjoined twins: historical perspective and report of a case.

In this article we review the historically important cases of conjoined twins (Biddenden Maids, Siamese twins, Blazek sisters) and contemporary knowledge regarding incidence, etiopathogenesis, antenatal diagnosis, antenatal management, and outcome of conjoined twins. We also present a case of male cephalothoracoomphalopagus, which is extremely rare.     

Effect of brimonidine tartrate 0.15% on scotopic pupil size and upper eyelid position: controlled trial

BackgroundTo evaluate the effect of brimonidine tartrate 0.15% ophthalmic solution on pupil size under scotopic condition and upper eyelid position.MethodsThis study comprised 72 eyes of 36 healthy subjects. A single drop of brimonidine tartrate 0.15% ophthalmic solution was instilled in the right eye and artificial tear was instilled in the left eye. Pupil size was measured using an infra-red pupillometer under scotopic condition before and at 30 min, 2, 4, 6, 8 and 10 h after instillation. Measurement of margin reflex distance 1 (MRD1) was performed using a millimetre ruler before and after at 10 min after instillation.ResultsThe mean age of the subjects was 32.19 ± 11.43 years (range 10–52 years), 17 were female and 19 were male. Before brimonidine instillation, the mean pupil size was 6.09 ± 1.03 mm in the brimonidine eyes and 6.06 ± 1.04 mm in the control eyes. There was a significant decrease in mean pupil size at 30 min (4.45 ± 1.04), 2 h (4.49 ± 1.06), 4 h (4.59 ± 1.06), 6 h (4.89 ± 1.06) and 8 h (5.38 ± 1.02) after instillation compared to before in brimonidine eyes (p < 0.001 for all). There was a significant miosis continued for at least 6 h (5.95 ± 1.03) in control eyes (p < 0.001). There was no significant change in MRD1, before and after instillation both in brimonidine and control eyes.ConclusionsBrimonidine tartrate 0.15% had a significant miosis under scotopic condition for at least 8 h after instillation and had a significant miosis on the untreated eye for at least 6 h.Subject terms: Outcomes research, Eye manifestations     

The Relationship Between Psychopathy and Olfactory Tasks Sensitive to Orbitofrontal Cortex Function in a Non-criminal Student Sample

This study investigated the relationship between psychopathy and tests presumed sensitive to orbitofrontal cortex (OFC) function in a non-criminal student sample. While converging lines of evidence indicate OFC-associated dysfunction in criminal psychopaths, few studies have investigated whether non-criminal psychopaths manifest similar deficits. Psychopathic traits were indexed using the Self-Report Psychopathy scale and the “Sniffin' Sticks” and Iowa Gambling Task (IGT) were employed as neuropsychological measures of OFC function. The results showed higher degrees of psychopathy were significantly associated with poorer olfactory discriminative ability and poorer IGT performance. The discussion focuses on what these findings contribute to the understanding of the psychopathy and OFC relationship, suggesting the degree of OFC-associated dysfunction may be one differentiating factor between criminal and non-criminal psychopaths.