Fibular Agenesis and Ball-Like Toes Mimicking Preaxial Polydactyly: Prenatal Presentation of Du Pan Syndrome.

Introduction: GDF5-BMPR1B signaling pathway-associated chondrodysplasias are a genetically heterogeneous group of conditions with significant phenotypic and genotypic overlap, consisting of Hunter-Thompson-type acromesomelic dysplasia, Grebe dysplasia, and Du Pan syndrome. Constituting a spectrum of clinical severity, these disorders are characterized by disproportionate short stature mainly involving middle and distal segments of the extremities. Du Pan syndrome represents the mildest end of this spectrum with less marked shortened limbs, fibular agenesis or hypoplasia, absence of frequent joint dislocations, and carpotarsal fusions with deformed phalangeal bones. Case Presentation: Here, we report the first prenatal diagnosis of Du Pan syndrome based on the sonographic findings of bilateral fibular agenesis and ball-shaped toes mimicking preaxial polydactyly accompanying subtle brachydactyly in the family. GDF5 (NM_000557.5) sequencing identified a homozygous pathogenic variant c.1322T>C, p.(Leu441Pro) in the fetus and confirmed the carrier status in the mother. Discussion: We suggest that the presence of bilateral fibular agenesis and the apparent image of preaxial polydactyly of the feet on prenatal ultrasound should alert suspicion to Du Pan syndrome, with the latter possibly being a sonographic pitfall. Alongside the fetal imaging, a detailed clinical examination of the expectant parents is also of great importance in establishing a preliminary diagnosis of Du Pan syndrome, as well as the other GDF5-BMPR1B-associated chondrodysplasias.

Association between herbivore stress and glutathione S-transferase expression in Pinus brutia Ten.

Plants have developed mechanisms to defend themselves against many factors including biotic stress such as herbivores and pathogens. Glutathione S-transferase (GST) is a glutathione-dependent detoxifying enzyme and plays critical roles in stress tolerance and detoxification metabolism in plants. Pinus brutia Ten. is a prominent native forest tree species in Turkey, due to both its economic and ecological assets. One of the problems faced by P. brutia afforestation sites is the attacks by pine processionary moth (Thaumetopoea wilkinsoni Tams.). In this study, we investigated the changes in activity and mRNA expression of GST in pine samples taken from both resistant and susceptible clones against T. wilkinsoni over a nine month period in a clonal seed orchard. It was found that the average cytosolic GST activities of trees in March and July were significantly higher than the values obtained in November. November was considered to be the control since trees were not under stress yet. In addition, RT-PCR results clearly showed that levels of GST transcripts in March and July samples were significantly higher as compared to the level seen in November. These findings strongly suggest that GST activity from P. brutia would be a valuable marker for exposure to herbivory stress.

The effect of Nesfatin-1 on heart L-type Ca²âº channel α1c subunit in rats subjected to chronic restraint stress.

BACKGROUND: Elevated L-type Ca²âºchannel expression level increases Ca²âº influx. This can cause hypertrophy and pathological remodeling of the heart especially under stress conditions. Nesfatin-1 can activate hypothalamic L, P and Q type Ca²âº channels and increase insulin secretion in pancreatic islet beta cells via activation of L-type Ca²âº channels. On the other hand, the effect of nesfatin-1 on cardiac L-type Ca²âº channels has not been studied yet. OBJECTIVES: We aimed to identify the effect of peripheral chronic Nesfatin-1 application on cardiac L-type Ca²âº channel α1c subunit expression level in normal rats and those subjected to chronic restraint stress. METHODS: Three-month aged Wistar albino rats were randomly divided into 4 groups (n = 7) as Control, Stress, Control+Nesfatin-1, and Nesfatin-1+Stress. Rats in groups subjected to restraint stress were placed in a specially built size-manipulable cabin for 2 h/day (between 10:00 and 12:00 a.m.) for 10 consecutive days without allowing water and food intake. Nesfatin-1 segment (0.25 nmol/g bw intraperitoneally) was applied during the 10 consecutive days. Western blot analyses were performed to determine the expression level of L-type Ca²âº channel α1c subunit protein in rat cardiac extracts. RESULTS: Cardiac L-type Ca²âº channel α1c subunit protein expression levels were increased significantly after chronic peripheral Nesfatin-1 application in rats subjected to restraint stress (p = 0.032). CONCLUSION: We can conclude that Nesfatin-1 can cause cardiac failures during clinical treatments by elevating cardiac L-type Ca²âº channel α1c subunit protein expression level (Fig. 2, Ref. 26).

Supplementation of apelin increase plasma levels of nesfatin-1 in normal and DOCA-salt hypertensive rats.

AIMS: We aimed to observe the effects of apelin supplementation on the plasma levels of nesfatin-1 in DOCA-salt hypertensive and normal rats. METHODS: For this purpose, 28 young Wistar albino male rats were divided into four groups; Control (C), Control + Apelin (C+A), Hypertension (HT) and Hypertension + Apelin (HT+A). Hypertension was induced by injection of DOCA-salt (25 mg/kg, s.c.) twice weekly, 4 weeks, whereas intraperitoneal apelin was administered (200 µg.kg-1) for 17 days. Plasma nesfatin-1 and apelin levels were measured with ELISA. Systolic blood pressure was monitored using a tail cuff system. The relationships between plasma nesfatin levels and blood pressure were assessed. RESULTS: Plasma nesfatin-1 levels was found lower in control animals compared to C+A, HT and HT+A groups (p = 0.002, p = 0.026 and p = 0.011, respectively). Systolic blood pressures were similar in the C and C+A groups, but systolic blood pressures of the HT and HT+A groups was found significantly higher than the C and C+A groups. CONCLUSIONS: In conclusion, apelin administration induced an increment of nesfatin-1 in normal rats and plasma levels of nesfatin-1 increase in DOCA-salt hypertension rats. But apelin addition in hypertension did not cause an extra increase in nesfatin-1 levels. This is the first report to investigate the effect of apelin administration on plasma nesfatin levels of normal and hypertensive rats (Fig. 2, Ref. 44).

Evaluation of whether the ACE gene I/D polymorphism constitutes a risk factor for chronic obstructive pulmonary disease in the Turkish population.

Chronic obstructive pulmonary disease (COPD) is characterized by progressive airflow obstruction that occurs as a result of the normal inflammatory process to protect against harmful irritants and chemicals. Another physiological regulatory process, the renin angiotensin system (RAS), plays an important role in the pathology of many diseases. Angiotensin converting enzyme (ACE) is a key enzyme of RAS. We investigated the frequency of the ACE gene I/D polymorphism in patients with COPD in Turkey. This study was performed on 47 unrelated patients with COPD and 64 healthy subjects. DNA samples were isolated from peripheral blood, and ACE DNA was amplified by polymerase chain reaction. The frequencies of ACE genotypes were 27.7, 55.3, and 17% for DD, ID, and II in the COPD group, respectively, and 43.8, 43.8, and 12.4% in the control group. There was no statistically significant difference between groups (X(2) = 3.078; df = 2; P = 0.220). The distributions of ACE gene D alleles were 38.2% (N = 52) in the COPD group and 61.8% (N = 84) in the control group; and those of I alleles were 48.8% (N = 42) in the COPD group and 51.2% (N = 44) in the control group. There was no statistically significant difference between groups for allele frequency (X(2) = 2.419; df = 2; P = 0.120). We believe these results can be useful for large-scale population genetic research considering the frequency of the ACE gene variation in COPD patients in the Turkish population.

The value of liver and spleen ADC measurements in the diagnosis and follow up of hepatic fibrosis in chronic liver disease.

AIMS: To evaluate the value of spleen and liver apparent diffusion coefficients (ADC) in chronic liver disease patients, with and without hepatocellular carcinoma (HCC), and to investigate the use of diffusion-weighted imaging (DWI) in the diagnosis and follow-up of hepatic fibrosis. MATERIALS AND METHODS: This study population comprised 68 chronic liver disease patients (Group 1) and 70 healthy volunteers as controls (Group 2). In Group 1, 40 patients had chronic hepatitis-B, 20 had chronic hepatitis-C, 5 had non-alcoholic steatohepatitis and 3 had alcoholic steatohepatitis. Diagnosis of chronic liver disease was made by percutaneous liver biopsy and the degree of fibrosis (stage) was determined using the METAVIR scoring system. HCC diagnosis was made with a lesion biopsy. The patient group was subdivided based on the degree of fibrosis (F1, F2, F3 and F4) and presence of HCC. After patient and control groups underwent b-value 600 s/mm(2) DWI examination, liver and spleen ADC values were mapped and measured. The ADC values of the patient groups (F1, F2, F3, F4; with HCC, without HCC) were compared with each other and with the control group. RESULTS: Liver ADC values were lower in Group 1 compared to Group 2 (P<0·001). There was a statistically significant difference between the patient and control groups liver right lobe, left lobe and caudate lobe ADC values (P<0·001). Comparing the F1, F2, F3 and F4 groups, there was no statistically significant difference found in terms of ADC values (P>0·05). However, as degree of fibrosis increased there was a reduction in ADC values, though not statistically significant. Comparing the groups with HCC and without HCC, there was no statistically significant difference in ADC values (P>0·05). There was no statistical difference in average spleen ADC values between patient and control groups (P>0·05). CONCLUSIONS: In chronic liver disease, ADC values were lower. As the degree of liver fibrosis increased, ADC levels decreased, though the relationship between ADC values and fibrosis degree was not statistically significant. Quantitative DWI may help in the diagnosis of fibrosis in chronic liver disease patients, however as it does not show the degree of fibrosis, its use in treatment planning and follow-up is controversial. Spleen DWI measurement is not a sufficient method to diagnose and determine the degree of fibrosis in chronic liver disease patients.

Toxic effects of copper sulfate on the brains of term Hubbard broiler chicks: a stereological and biochemical study.

Copper sulfate can cause different pathologies in different organ systems during development. We determined the effects of toxic levels of copper sulfate on brain development in term Hubbard broiler chicks using stereological and biochemical analyses. Hubbard broiler chicken eggs were divided into three groups: controls with no treatment, sham-treated animals and an experimental group. On day 1, 0.1 ml saline was injected into the air chambers of the sham and experimental groups. The experimental group received also 50 µg copper sulfate. At term (day 21), all chick brains were removed and their volumes were determined using the Cavalieri volume estimation. Parallel biochemical analyses were carried out for glutathione and malondialdehyde levels in the brain tissues as indicators of oxidative damage. With copper treatment, the mean brain volume (8079 µm(3)) was significantly decreased compared to both the control (10075 µm(3)) and sham (9547 µm(3)) groups. Copper treatment (143.8 nmol/g tissue) showed significantly decreased malondialdehyde levels compared to the control (293.6 nmol/g tissue) and sham groups (268.8 nmol/g tissue). Copper treatment (404.5 nmol/g tissue) showed significantly increased malondialdehyde levels compared to the control (158.6 nmol/g tissue) and sham (142.8 nmol/g tissue) groups. The morphological and biochemical parameters we measured demonstrated that in term Hubbard broiler chicks, toxic levels of copper sulfate cause developmental and oxidative brain damage.

Effects of intravenous and intracerebroventricular theophylline on hypoxic ventilatory depression in anesthetized cats.

OBJECTIVE: The present study was undertaken to investigate the ventilatory response due to sustained isocapnic moderate hypoxia and the possible role of adenosine in hypoxic depression in anesthetized cats. MATERIALS AND METHODS: Cats anesthetized with pentothal sodium (30 mg kg(-1) i.p.) were divided into two groups: treated (n = 11) and control (n = 15). Respiratory frequency (f), tidal volume (VT), minute volume (VE) and systemic arterial blood pressure were recorded during air and 20 min of breathing hypoxic gas mixture (14% O2-86% N2). Isocapnia was maintained by adding fractions of 1% CO2 to the inspired hypoxic gas mixture. The PaO2 and PaCO2 were determined. RESULTS: On hypoxic gas mixture breathing, VT and VE values of the control animals increased significantly, at 5 min to 50 +/- 6 and 53 +/- 6%, respectively, above the prehypoxic air phase value (p < 0.001). After that, the magnitude of increase in VT and VE declined gradually. At 20 min of hypoxia, VT and VE were less than those in prehypoxic air phase (17 +/- 7, 16 +/- 7%, respectively). In cats injected with an adenosine antagonist (theophylline 13.6 mg kg(-1) i.v.), f, VT and VE increased significantly at 5 min of hypoxia (p < 0.001). At 20 min of hypoxia, f, VT and VE were 8 +/- 2, 30 +/- 8, and 39 +/- 8%, respectively, higher than corresponding values of the prehypoxic stage. In cats injected with theophylline (0.5 mg kg(-1)) by cisternal puncture VT and VE increased significantly at 5 min of hypoxia. At 20 min of hypoxia, VT and VE were 27 +/- 7 and 31 +/- 8% higher than those in the prehypoxic air phase. CONCLUSION: The results of this study show that accumulation of adenosine in the brain during hypoxia seems to reduce the response of the central mechanisms to chemoreceptor impulses.

Inhibition of spinal reflexes by acetylsalicylate and metamizol (dipyrone) in rats.

The effects of acetylsalicylate and metamizol on spinal monosynaptic reflexes were tested in spinal rats. Adult rats were anesthetized with ketamine, artificially ventilated, and spinalized at the C1 level. A laminectomy was performed in the lumbosacral region. Following electrical stimulation of the sciatic nerve by single pulses, the reflex potentials were recorded from the ipsilateral L5 ventral root. Acetylsalicylate was administered orally via nasogastric tube and metamizol intramuscularly. Acetylsalicylate (50 and 100 mg/kg) and metamizol (15 mg/kg) significantly decreased the amplitude of the reflex response (p < 0.05). But the 10-mg/kg metamizol dose did not significantly decrease the amplitude of the reflex response. The cyclooxygenase products of arachidonic acid may play an important role in regulating the reflex potential.

Effects of acute exercise on the levels of iron, magnesium, and uric acid in liver and spleen tissues.

In this study, we investigated the effects of acute exercise on tissue levels of iron, magnesium, and uric acid of rats. Twenty adult Wistar albino rats were used for the study. They were divided into two groups: controls (n=10) and the study group (n=10). The study group was left into a small water pool and allowed to do swimming exercise for 30 min while controls rested. All of the animals were sacrificed, and their livers and spleens removed and homogenized immediately. The iron, magnesium, and uric acid levels of the homogenates were measured by an autoanalyzer (ILAB 900, Italy) with commercial kits from the same company. Results were evaluated by the Mann-Whitney U-test. According to our results, the liver iron levels increased significantly with exercise, whereas spleen iron levels decreased significantly (p<0.05) compared to controls. We found no significant differences in the levels of the other two parameters with exercise. These results show that the iron distribution in organs changes with exercise.

Wide excision and free flap reconstruction of two cases with adult form of Juvenile Hyalin Fibromatosis localized on the foot.

Juvenile Hyalin Fibromatosis (JHF) or systemic hyalinosis is a rare, sporadic or hereditary disorder characterized by skin lesions, gingival hypertrophy, muscle weakness, and flexion contractures of large joints. There is still dispute in its pathogenesis and treatment. We described two cases with adult form of Juvenile Hyalin Fibromatosis localized in the foot and discussed the local control we achieved by surgery.

Effect of exercise on lipid peroxidation.

PURPOSE: The effect of physical exercise on lipid peroxidation was investigated. METHOD: 27 healthy young adult male subjects were included in this study. Urine samples were collected before and after exercises. Urinary malondialdehyde and creatinine levels (Cr) were measured. RESULTS: Urinary malondialdehyde levels were increased by exercise. While pre-exercise malondialdehyde levels were 5.02 +/- 1.26 nmol/mg Cr, post-exercise levels were 6.13 +/- 1.84 nmol/mg Cr (p < 0.05). CONCLUSION: These findings indicated that physical exercise induced lipid peroxidation.

2-[(4-Hydroxyphenyl)iminomethyl]thiophene.

The molecular structure of the title compound, C(11)H(9)NOS, has three planar moieties, two of which are rings, namely the hydroxyphenyl and the thiophene, with an angle of 20.76 (10) degrees between them. The crystal structure is stabilized by an O-H.N hydrogen bond and by C-H.O intermolecular interactions. The C.O intermolecular contact distance is 3.443 (2) A.

Comparison between sensitive and nonsensitive free flaps in reconstruction of the heel and plantar area.

In this study, 12 cases of reconstruction of the heel and plantar area since 1982 are reviewed. Six nonsensate muscle free flaps and six sensate fasciocutaneous flaps were used, respectively. Categories assessed were the time interval for return to daily living activities, sensation to light touch, pinprick, Semmes-Weinstein monofilament test of the reconstructed area for sensory evaluation; and results of pedograms (maximal pressure, pressure distribution, and total contact area of the plantar surface). Follow-up periods were between 2 and 14 years, with an average of 6 years. Better sensory results and early return to daily living activities were observed in the sensate flap group, but the defects were smaller in this group. Despite the slightly longer time to return to daily living activities and worse sensory results, long-term follow-up showed that patients with nonsensate flaps had no difficulty in performing living activities if they continued to be careful and to use some kind of protective shoes. The results of the pedogram analyses were similar between the two groups with regard to total contact area of the reconstructed foot in relation to the healthy foot. Pressure values of the reconstructed areas in sensate flaps were found to be close to pressure values in the same weight areas of the normal foot. The differences between pressure values of the sensate and nonsensate flaps were statistically significant (p < 0.001). Therefore, in reconstruction of the weight-bearing surface of the foot, each case should be evaluated individually. The reconstructive method should be chosen according to the location and soft-tissue requirements of the defect.

Malignant fibrous histiocytoma developing in a burn scar.

Malignant fibrous histiocytoma (MFH) which is usually originated from muscles and deep fascia and rarely from the subcutaneous tissue is the most common soft tissue sarcoma; and it frequently invades the extremities. Occurrence of this tumor on a burn scar of scalp is a very rare entity. In the literature, there were only four reported malign fibrous histiocytoma cases that originated from a burn scar but none of them was at the scalp region. A female patient complaining about a painful mass at the scalp region was admitted to our clinic twenty years after burning with hot water when she was 3 years old. Pathological and clinical features of this rapidly growing malignant fibrous histiocytoma were similar with the other cases reported before. After the diagnosis was clear as a pleomorphic storiform type of MFH, a wide tumor excision was done because of the high risk of local recurrence.

Investigation of serum calcium, phosphorus, albumine uric acid and lipid parameters in sportsmen and sedanters.

In this study, it was aimed to investigate the differences in blood lipid fractions which are important risk factors for atherosclerosis and to show how the levels of serum albumin, uric acid, ionized calcium, inorganic phosphorus change with exercises between sportsmen and sedanters. 25 sportsmen and 25 sedanters (13 male, 12 female in each group) aged 18-23 were chosen for the study. From the venous blood samples taken from the two groups, levels of serum total lipid, total cholesterol, HDL-cholesterol, LDL-cholesterol, VLDL-cholesterol, triglyceride, albumin, uric acid, ionized calcium, inorganic phosphorus were analyzed. Student's t-test was used for the statistical analyses. There were some important changes in the levels of serum triglyceride, VLDL-cholesterol and ionized calcium of sportsmen compared to those of controls.

Investigation of serum calcium, phosphorus, albumine uric acid and lipid parameters in sportsmen and sedanters

In this study, it was aimed to investigate the differences in blood lipid fractions which are important risk factors for atherosclerosis and to show how the levels of serum albumin, uric acid, ionized calcium, inorganic phosphorus change with exercises between sportsmen and sedanters. 25 sportsmen and 25 sedanters (13 male, 12 female in each group) aged 18-23 were chosen for the study. From the venous blood samples taken from the two groups, levels of serum total lipid, total cholesterol, HDL-cholesterol, LDL-cholesterol, VLDL-cholesterol, triglyceride, albumin, uric acid, ionized calcium, inorganic phosphorus were analyzed. Student’s t-test was used for the statistical analyses. There were some important changes in the levels of serum triglyceride, VLDL-cholesterol and ionized calcium of sportsmen compared to those of controls.

Investigation of serum calcium, phosphorus, albumine uric acid and lipid parameters in sportsmen and sedanters.

In this study, it was aimed to investigate the differences in blood lipid fractions which are important risk factors for atherosclerosis and to show how the levels of serum albumin, uric acid, ionized calcium, inorganic phosphorus change with exercises between sportsmen and sedanters. 25 sportsmen and 25 sedanters (13 male, 12 female in each group) aged 18-23 were chosen for the study. From the venous blood samples taken from the two groups, levels of serum total lipid, total cholesterol, HDL-cholesterol, LDL-cholesterol, VLDL-cholesterol, triglyceride, albumin, uric acid, ionized calcium, inorganic phosphorus were analyzed. Students t-test was used for the statistical analyses. There were some important changes in the levels of serum triglyceride, VLDL-cholesterol and ionized calcium of sportsmen compared to those of controls.