A rare cause of hydrops fetalis in two Gaucher disease type 2 patients with a novel mutation

Metabolic Brain Disease - Gaucher disease type 2 is the most progressive and the rarest form of Gaucher disease, defined as the acute neuronopathic type. We presented two GD2 patients who died...     

Addition of formoterol or montelukast to low-dose budesonide: an efficacy comparison in short- and long-term asthma control

BACKGROUND: Asthma is a chronic inflammatory disease of the airways. Inhaled corticosteroids are very important in anti-inflammatory treatment, but to a great extent they cannot control asthma alone. In addition to corticosteroids, long-acting beta2 agonists and leukotriene antagonists are used for asthma control. OBJECTIVE: In this study, the effect of the addition of formoterol and montelukast on asthma control in patients with moderately persistent asthma who were symptomatic while using a low dose of inhaled budesonide was compared. METHODS: At the beginning of the study, 40 symptomatic patients with moderately persistent asthma used 400 microg/day budesonide for a 4-week training period, and were then divided randomly into two groups, each composed of 20 persons. For the first group's treatment regime, inhaled formoterol (9 microg) twice a day was added, and for the second group's treatment regime, one-dose oral montelukast (10 microg) was added. These patients were followed up for 8 weeks. The patients' peak expiratory flow (PEF) values measured in the morning and at night, changes in PEF, forced expiratory volume in 1 s, asthma symptom score and the symptom-relieving therapy used during the 12-week study period were recorded and evaluated in the clinic at the very beginning and at the end of each period. RESULTS: Before the study, the morning PEF value of the group for whom formoterol was added to budesonide (FB) was 266.3 +/- 59.3 liters/min, and in the group for whom montelukast was added to budesonide (MB), it was 262.8 +/- 53.8 liters/min (p > 0.05). After the 8-week treatment period, the morning PEF values were found to be 320.5 +/- 54.4 liters/min in the FB group and 293.3 +/- 52.4 liters/min in the MB group; at the end of the study, it was seen that although there was an increase in morning PEF of 54.2 +/- 15.2 liters/min in the FB group, there was an increase of only 30.5 +/- 25.3 liters/min in the MB group (p < 0.0001). Before the study, night PEF values were 287 +/- 56.6 liters/min in the FB group and 283 +/- 48.5 liters/min in the MB group (p > 0.05). At the end of the treatment, the night PEF values were found to be 331.5 +/- 56.1 liters/min in the FB group and 310 +/- 53.1 liters/min in the MB group. At the end of the study, it was observed that although there was an increase in night PEF of 44.5 +/- 23.3 liters/min in the FB group, there was an increase of only 27 +/- 24.1 liters/min in the MB group (p < 0.001). Although asthma symptom scores and the use of symptom-relieving drugs showed similarities between the two groups at the beginning of the study, after treatment, the FB group had better results than the MB group with respect to these two parameters (p < 0.0001 for both). It was also seen that the two treatments are tolerated equally well. CONCLUSION: FB treatment, which causes a considerable improvement in lung function, showed better asthma control than MB treatment in patients with moderately persistent asthma.     

Aumento da Rigidez Arterial Pulmonar e Comprometimento do Acoplamento Ventrículo Direito-Artéria Pulmonar na SOP

Background:Polycystic ovary syndrome (PCOS) is the most common endocrine-metabolic disease in women in reproductive age, and occurs in one of 10 women. The disease includes menstrual irregularity and excess of male hormones and is the most common cause of female infertility. Dyspnea is a frequent symptom and is often thought to be due to obesity, and whether it is due to cardiac dysfunction is unknown.Objective:To evaluate right ventricle-pulmonary artery (RV-PA) coupling and pulmonary arterial stiffness in patients with PCOS.Methods:44 PCOS patients and 60 controls were included; venous blood samples were taken for laboratory tests and 2-D, m-mode and tissue doppler transthoracic echocardiography were performed for all the participants. P<0,05 was considered as statistically significant.Results:When compared to the control group, PCOS patients had higher pulmonary artery stiffness values (p=0,001), which were positively correlated with HOMA-IR (r=0,545 and p<0,001). RV-PA coupling was also impaired in 34% of the study patients.Conclusion:Pulmonary artery stiffness is increased and RV-PA coupling is impaired in patients with PCOS. (Arq Bras Cardiol. 2021; 116(4):806-811)Palavras-chave: Diseases of the Endocrine System, Arterial Stiffness, Female infertility, Obesity, Dyspnea, Pulmonary hypertension     

Indications for eye removal surgeries: A 15-year experience at a tertiary military hospital

Objectives:

To analyze the indications and types of eye removals at a military tertiary care hospital in Turkey.

Methods:

The medical records (age, gender, affected eye, type of surgical procedure, indications of surgery) of 123 patients who underwent evisceration and enucleation in the course of a 15-year period (January 2000 to December 2014) at Gulhane Military Medical Academy, Ankara, Turkey were reviewed retrospectively.

Results:

The mean age was 35.61±18.52 (range 3-80 years). The number of male in the patient group was 92 (74.8%) and female was 31 (25.2%). Patients who underwent evisceration were 95 (77.2%), whereas 28 (22.8%) of them underwent enucleation. The mean age of the eviscerated patients was 30.63±13.08, whereas the mean age of the enucleated patients was 52.50±23.92 (p<0.001). The leading indications for eye amputations were trauma (n=62, 50.4%), malignancy (n=20, 16.3%), painful blind eye and absolute glaucoma (n=20, 16.3%), endophthalmitis (n=12, 9.7%), and phthisis bulbi, and cosmetic reasons (n=9, 7.3%).

Conclusion:

Trauma was the most common etiology for evisceration, and malignancy was the most common etiology for enucleation. Using protective eyewear and early detection of intraocular malignancy and glaucoma through routine ophthalmic examinations are essential for providing non-invasive treatment modalities instead of eye removal.Eye removals are performed in cases of severe trauma, eye malignancy, endophthalmitis unresponsive to medical treatment, painful blind eye, and absolute glaucoma, as well as phthisic eyes with severe cosmetic defects.1-4 Evisceration is the removal of intraocular structures other than the sclera, whereas enucleation is the removal of the entire eyeball including the sclera leaving behind only the orbital structures.5 Evisceration surgery is usually preferred in extremely severe trauma cases, while enucleation is used in advanced cases of intraocular malignancy.1,3,6 The aim in such surgeries is to remove the damaged eye, provide sufficient comfort, replace the lost volume, and renew functional and cosmetic appearance.7 Removal is a difficult decision for both patients and physicians, and is considered as the last resort. In addition to clinical indications, the potential sight of the eye and patient’s psychological aspects should also be taken into consideration.1 In developed countries, the most common reasons for eye amputations are malignancy3 and trauma,6 whereas in developing countries, infections are the dominating factors.1,8 In this study, the etiology and surgery methods of 123 eye amputations performed in the Gulhane Military Medical Academy (GATA) between January 2000 and December 2014 were analyzed, and possible public health and preventive programs regarding this matter were evaluated.     

Effects of intra-abdominal pressure on adrenal gland function and morphology in rats

Intra-abdominal hypertension and abdominal compartment syndrome (IAH/ACS) are life-threatening conditions and caused by several clinical status. Although there is insufficient data regarding its effects on adrenal glands. This study aimed to identify whether elevated intra-abdominal pressure (IAP) caused any alteration on the morphology and function of adrenal glands in a rat model. Twenty four Sprague-Dawley male rats were included in the study. Animals were allocated into 4 groups. IAP was elevated to 15 mmHg for one hour and four hours in group 2 and 4. Group 1 and 3 were sham groups. Blood samples were taken for the assessment of plasma adrenaline, noradrenaline, and corticosterone levels and adrenalectomies were performed to evaluate apoptosis. Blood adrenaline, noradrenaline and corticosterone levels were significantly higher in the study groups compared with the sham groups. However, there were no significant changes in apoptotic index scores in the study groups as compared to sham groups. These results support that increased IAH leads to discharge of catecholamine and corticosterone from the adrenal glands. Failure to demonstrate similar changes in apoptotic index score may be concluded as apoptosis is not a leading pathway for impairment of adrenal glands during IAH period.     

Low Prevalence of Hepatitis C Virus Infection Among HIV-Positive Patients: Data From a Large-Scale Cohort Study in Istanbul,Turkey

Background:

Rate of coinfection with human immunodeficiency virus (HIV) and hepatitis C virus (HCV) varies in different countries. This may be attributable to common transmission routes as well as social, economic, and cultural factors.

Objectives:

The purpose of this study was to investigate the prevalence and risk factors of HCV infection among HIV-positive patients in Istanbul, Turkey.

Patients and Methods:

Since January 2006 to November 2013, 949 HIV-positive patients that were enrolled in this study by ACTHIV-IST (Action Against HIV in Istanbul) Study Group, which consists of five centers to follow up HIV-positive patients in Istanbul. Epidemiologic and clinical data were collected retrospectively from medical records and were transferred to an HIV database system.

Results:

Among 949 patients, 84% were men and the mean age was 37.92 ± 11.54 years (range, 17-79). The most frequent route of transmission was heterosexual intercourse (48.8%), followed by men having sex with men (30.5%). Only nine patients (0.9%) had history of injection drug use (IDU). The prevalence of HIV/HCV coinfection was 0.9% (9:949). The IDU rate was 44.4% (4:9) in patients with HIV/HCV coinfection (three of them were not Turkish citizens), whereas this rate was only 0.6% (5:881) in patients with only HIV infection (P < 0.01). Genotypes 1b, 2a/2c, and 3 were determined in five, one, and two patients, respectively. Genotype could not be determined in one patient. History of residence in a foreign country (P < 0.01) and imprisonment (P < 0.01) were also considered as risk factors in terms of HIV/HCV coinfection.

Conclusions:

Prevalence of HIV/HCV coinfection is considerably low in Turkey. The extremely rare prevalence of IDU might have a role in this low prevalence.     

Serum prolidase activity,oxidative stress,and nitric oxide levels in patients with bladder cancer

Objectives

Prolidase is a member of the matrix metalloproteinase family. It plays a major role in collagen turnover, matrix remodeling and cell growth. Nitric oxide (NO) regulates many processes such as collagen synthesis and matrix remodeling. Thus, NO may augment angiogenesis, tumor invasion, and metastasis. The aim of this study was to investigate total antioxidant status (TAS), malondialdehyde (MDA) and NO levels in patients with bladder cancer and to determine their relationship with prolidase activity.

Design and methods

Thirty-five patients with bladder cancer and 32 controls were enrolled. Serum TAS, MDA, prolidase activity and NO levels were determined.

Results

Serum prolidase activity, NO levels and MDA levels were significantly higher in bladder cancer than controls (all, P < 0.05), while TAS levels were significantly lower (P < 0.05).

Conclusions

Our results show that increased prolidase seems to be associated with increased NO levels and oxidative stress along with decreased antioxidant levels in bladder cancer.

     

Adipokines and Systemic Inflammation in Weight-Losing Lung Cancer Patients

Background  

Cancer cachexia is a devastating condition leading to loss of function and independence, decreased performance status, decreased quality of life, and poor prognosis. Adipokines play a role in a wide variety of physiological or pathological processes, including immunity and inflammation, in addition to having significant effects on metabolism and lipogenesis. The objective of the present study was to investigate the relationship of adipokines and systemic inflammation in weight-losing advanced-stage non-small-cell lung cancer (NSCLC) patients.