Medicina

739 KiB

Open AccessArticle

Stargardt Disease Caused by a Rare Combination of Double Homozygous Mutations

by Danielius Serapinas, Viltautė Obrikytė and Raimundas Sakalauskas

Medicina 2013, 49(8), 60; https://doi.org/10.3390/medicina49080060 - 4 Sep 2013

Cited by 5 | Viewed by 1178

Stargardt disease is a juvenile macular degeneration most often inherited in an autosomal recessive pattern, characterized by decreased vision in the first 2 decades of life. This report presents a clinical case of Stargardt disease: a 10-year-old female patient complained of blurry vision, [...] Read more.

Stargardt disease is a juvenile macular degeneration most often inherited in an autosomal recessive pattern, characterized by decreased vision in the first 2 decades of life. This report presents a clinical case of Stargardt disease: a 10-year-old female patient complained of blurry vision, and in a 4-year period, her visual acuity was reduced from OD=0.3 and OS=0.3 to OD=0.08 and OS=0.1, respectively. A genetic analysis revealed a rare combination of 2 homozygous recessive mutations in the ABCA₄ gene, which caused Stargardt disease. The presence of different genetic mechanisms leading to a severe disease phenotype can challenge molecular geneticists, ophthalmologists, and genetic counselors. Full article

239 KiB

Open AccessArticle

Associations Between Air Temperature and Daily Suicide Counts in Astana, Kazakhstan

by Andrej M. Grjibovski, Gulmira Kozhakhmetova, Aliya Kosbayeva and Bettina Menne

Medicina 2013, 49(8), 59; https://doi.org/10.3390/medicina49080059 - 4 Sep 2013

Cited by 29 | Viewed by 1720

Abstract

Background and Objective. Seasonal variations in suicide mortality and its association with ambient air temperature have been observed in many countries. However, the evidence from Central Asia is scarce. The aim of the study was to assess the relationship between 4 indicators [...] Read more.

Background and Objective. Seasonal variations in suicide mortality and its association with ambient air temperature have been observed in many countries. However, the evidence from Central Asia is scarce. The aim of the study was to assess the relationship between 4 indicators of air temperature and daily suicide counts in Astana, Kazakhstan.
Material and Methods. The daily counts of suicides (ICD-10 codes, X60–X84) for the population of Astana in 2005–2010 were collected using death certificates and medical records at the Municipal Bureau of Forensic Medicine. Associations between the number of cases and mean, maximum, mean apparent, and maximum apparent temperatures were studied using negative binomial regression models controlling for the effects of month, year, weekends, holidays, wind velocity, barometric pressure, and relative humidity.
Results. Altogether, there were 685 suicides in Astana in 2005–2010. A clear seasonal pattern with the peak in summer was observed. In crude analyses, significant associations between suicide counts and all 4 temperatures were found. After adjustment for other variables, only apparent temperatures remained significantly associated with the outcome. An increase in the mean apparent temperature by 1°C was associated with an increase in suicide counts by 2.1% (95% CI, 0.4–3.8). Similar results were obtained for the maximum apparent temperature (1.2%, 95% CI, 0.1–2.3).
Conclusions. The results suggest a linear relationship between apparent temperatures and daily suicide counts across the whole spectrum of temperatures. Factors behind this association need further research with a further going aim to develop mitigation strategies in the period of climate change. Full article

200 KiB

Open AccessArticle

Depressive Mood in Association with Sociodemographic, Behavioral, Self-Perceived Health, and Coronary Artery Disease Risk Factors and Sleep Complaints

by Jurgita Andruškienė, Aurelija Podlipskytė, Arvydas Martinkėnas and Giedrius Varoneckas

Medicina 2013, 49(8), 58; https://doi.org/10.3390/medicina49080058 - 4 Sep 2013

Cited by 7 | Viewed by 1070

Abstract

The aim of the study was to investigate depressive mood in association with sociodemographic, behavioral, self-perceived health, and coronary artery disease (CAD) risk factors and sleep complaints among 35–74-year-old citizens of Palanga.
Material and Methods. A representative sample of randomly selected 1602 [...] Read more.

The aim of the study was to investigate depressive mood in association with sociodemographic, behavioral, self-perceived health, and coronary artery disease (CAD) risk factors and sleep complaints among 35–74-year-old citizens of Palanga.
Material and Methods. A representative sample of randomly selected 1602 persons, 600 men and 1002 women, was studied. Depressive mood was assessed by the WHO-5 Well-being Index. Sleep complaints, self-perceived health, and behavioral factors were evaluated by the Basic Nordic Sleep Quality questionnaire and questionnaires on self-perceived health and health behavior. Risk factors for CAD were assessed according to WHO recommendations.
Results. The highest prevalence of depressive mood (34.7%) was identified in the age group of 45–54 years in the men and in the age group of 55–64 years in the women (30.0%). The highest odds ratios demonstrating a strong association between depressive mood and health behavior were established for the use of antidepressants (OR=26.0) in the men and for the use of sedatives (OR=3.09) in the women. The highest odds ratios demonstrating an association between depressive mood and self-perceived health were established for chronic pyelonephritis (OR=3.13) in the men and diabetic foot pain (OR=4.46) in the women. The highest odds ratios reflecting an association between depressive mood and sleep quality were established for the inability to work due to disturbed sleep (OR=1.93) in the men and self-perceived sleep quality (OR=1.55) in the women.
Conclusions. Depressive mood, which was significantly associated with risky health behavior, poor self-perceived health, and disturbed sleep, was observed more often in the women than the men; however, significant associations between depressive mood and risk factors for CAD were not established. Full article

276 KiB

Open AccessArticle

CpG Island Methylation of the MLH1, MGMT, DAPK, and CASP8 Genes in Cancerous and Adjacent Noncancerous Stomach Tissues

by Rita Kupčinskaitė-Noreikienė, Jurgita Skiecevičienė, Laimas Jonaitis, Rasa Ugenskienė, Juozas Kupčinskas, Rytis Markelis, Vidmantas Baltrėnas, Linas, Irina Semakina, Saulius Grižas and Elona Juozaitytė

Medicina 2013, 49(8), 56; https://doi.org/10.3390/medicina49080056 - 4 Sep 2013

Cited by 20 | Viewed by 1289

Abstract

Background and Objective. Many factors are involved in the development of gastric adenocarcinoma. The CpG island methylation of apoptosis and mismatch repair genes by the loss of their function is important in gastric adenocarcinoma. The aim of this study was to determine [...] Read more.

Background and Objective. Many factors are involved in the development of gastric adenocarcinoma. The CpG island methylation of apoptosis and mismatch repair genes by the loss of their function is important in gastric adenocarcinoma. The aim of this study was to determine the methylation frequency of MLH1, MGMT, CASP8, and DAPK in cancerous and adjacent noncancerous stomach tissues, to determine possible associations with the selected clinicopathological characteristics, and to identify possible correlation between the methylation of individual genes.
Material and Methods. The methylation status of MLH1, MGMT, DAPK, and CASP8 was investigated in 69 patients with gastric adenocarcinoma by using methylation-specific polymerase chain reaction. The associations between patients’ clinical characteristics and methylation status were assessed.
Results. The methylation frequency of the MLH1, DAPK, MGMT, and CASP8 gene promoters in cancerous and adjacent noncancerous tissues was 31.9% and 27.5%; 47.8% and 46.4%; 36.2% and 44.9%; and 5.8% and 5.8%, respectively, but the differences were not significant. There was no significant association between the methylation status of the mentioned genes and clinicopathological characteristics, such as age, sex, tumor type by the Lauren classification, degree of differentiation G, and TNM staging. An inverse correlation between the methylation of the DAPK and MLH1 gene promoters in cancerous and surrounding noncancerous tissues was found.
Conclusions. The methylation of the MLH1, MGMT, DAPK, and CASP8 genes was found to occur both in cancerous and noncancerous stomach tissues. These findings provide additional insights into gene methylation patterns in gastric adenocarcinoma. Full article

306 KiB

Open AccessArticle

Posttreatment Status of Palatally Impacted Maxillary Canines Treated Applying 2 Different Surgical-Orthodontic Methods

by Dalia Smailienė, Aistė Kavaliauskienė and Ingrida Pacauskienė

Medicina 2013, 49(8), 55; https://doi.org/10.3390/medicina49080055 - 4 Sep 2013

Cited by 11 | Viewed by 1269

Abstract

Background and Objective. There is considerable debate on the issues of the choice of a surgical technique for the treatment of palatally impacted maxillary canines. The aim of the study was to evaluate the posttreatment status of palatally impacted canines treated applying [...] Read more.

Background and Objective. There is considerable debate on the issues of the choice of a surgical technique for the treatment of palatally impacted maxillary canines. The aim of the study was to evaluate the posttreatment status of palatally impacted canines treated applying 2 different surgical methods, i.e., an open technique with free eruption and a closed flap technique, and to compare it with the status of naturally erupted canines.
Material and Methods. In total, 43 patients treated for unilateral palatally impacted maxillary canines were examined at a mean follow-up of 4.19 months (SD, 1.44; range, 3–6) after a fixed appliance had been removed. The patients were distributed into 2 groups: the open technique with free eruption (group 1, n=22) and the closed technique (group 2, n=21). The posttreatment examination consisted of an intraoral and a radiological examination.
Results. The findings of tooth position, inclination, color, shape, and function did not differ between the groups. There was no significant difference in the measurements of the periodontal pocket depth and bone support between the groups: the mean periodontal pocket depth was 2.14 mm (SD, 0.38) in the group 1 and 2.28 mm (SD, 0.69) in the group 2; the mean bone support was 91.51% (SD, 5.78%) and 89.9% (SD, 5%) in the groups, respectively. However, differences were found when comparing the measurements of the quadrant of impacted canines with the quadrant of the contralateral normally erupted canines. The distal contact point of the lateral incisor and the medial contact point of the canine showed a significant bone loss in comparison with the contralateral corresponding teeth.
Conclusions. The posttreatment status of palatally impacted canines and adjacent teeth after the surgical-orthodontic treatment did not differ significantly between the groups of the open and the closed surgical method. Full article

438 KiB

Open AccessArticle

Leg Extensor Muscle Strength, Postural Stability, and Fear of Falling After a 2-Month Home Exercise Program in Women With Severe Knee Joint Osteoarthritis

by Monika Rätsepsoo, Helena Gapeyeva, Jelena Sokk, Jaan Ereline, Tiit Haviko and Mati Päsuke

Medicina 2013, 49(8), 54; https://doi.org/10.3390/medicina49080054 - 4 Sep 2013

Cited by 16 | Viewed by 1560

Abstract

Background and Objective. The aim of this study was to compare the leg extensor muscle strength, the postural stability, and the fear of falling in the women with severe knee joint osteoarthritis (OA) before and after a 2-month home exercise program (HEP). [...] Read more.

Background and Objective. The aim of this study was to compare the leg extensor muscle strength, the postural stability, and the fear of falling in the women with severe knee joint osteoarthritis (OA) before and after a 2-month home exercise program (HEP).
Material and Methods. In total, 17 women aged 46–72 years with late-stage knee joint OA scheduled for total knee arthroplasty participated in this study before and after the 2-month HEP with strengthening, stretching, balance, and step exercises. The isometric peak torque (PT) of the leg extensors and postural stability characteristics when standing on a firm or a foam surface for 30 seconds were recorded. The fear of falling and the pain intensity (VAS) were estimated.
Results. A significant increase in the PT and the PT-to-body weight (PT-to-BW) ratio of the involved leg as well as the bilateral PT and the PT-to-BW ratio was found after the 2-month HEP compared with the data before the HEP (P<0.05). The PT and the PT-to-BW ratio of the involved leg were significantly lower compared with the uninvolved leg before the HEP (P<0.05). The center of the pressure sway length (foam surface) decreased significantly after the HEP (P<0.05). Significant correlations were found between the PT of the involved leg and the bilateral PT and the fear of falling and between the PT of the involved leg and the postural sway (foam surface) before the HEP.
Conclusions. After the 2-month HEP, the leg extensor muscle strength increased and the postural sway length on a foam surface decreased. The results indicate that the increased leg extensor muscle strength improves postural stability and diminishes the fear of falling in women with latestage knee joint OA. Full article

587 KiB

Open AccessArticle

Detailed Evaluation of Patients Admitted To Emergency Department With a Tick Bite Complaint

by Nurşah Başol, Fazilet Duygu and Murat Ayan

Medicina 2013, 49(8), 57; https://doi.org/10.3390/medicina49080057 - 30 Aug 2013

Cited by 3 | Viewed by 1030

Abstract

Background and Objective. A tick bite has been an emergency of increased importance in recent years since it can cause a progressive, fatal disease such as Crimean-Congo hemorrhagic fever (CCHF). This issue should be considered by physicians working not only in endemic areas [...] Read more.

Background and Objective. A tick bite has been an emergency of increased importance in recent years since it can cause a progressive, fatal disease such as Crimean-Congo hemorrhagic fever (CCHF). This issue should be considered by physicians working not only in endemic areas but also in the entire world, taking into account immigration, overseas trips, etc. In our study, we aimed to increase the awareness of the issue by evaluating the emergency department admissions of tick bite complaints in an endemic area.
Material and Methods. In total, 251 patients who had been admitted to the emergency department with a complaint of a tick bite within 10 months were included into the study. The data were obtained by collecting main complaints, demographic characteristics, cell counts on admission, and biochemical tests as well as CCHF findings in the RT-PCR test. The patients were divided into 2 groups according to the results of real-time polymerase chain reaction (PCR+ and PCR–).
Results. All the patients complained of tick bites. As for the additional complaints, 46% of the overall study population had fatigue and 36% experienced fever. Fever was the most common complaint in the PCR+ group (39%). The platelet and white blood cell counts were significantly lower and the AST level was significantly higher in the PCR+ group than the PCR– group (P<0.01).
Conclusions. In CCHF, where an early diagnosis is very important in reducing mortality, and the symptoms such as a tick bite, fever, and fatigue should be taken seriously by emergency medicine physicians. Leukopenia and thrombocytopenia and higher levels of enzymes in the liver function tests should be taken into account. Full article

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Medicina, Volume 49, Issue 8 (August 2013) – 7 articles

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