Northern Clinics of Istanbul最新文献

Objective: The aim of this study is to evaluate the clinical, laboratory, and radiological findings and prognosis of patients with adenosine deaminase 2 deficiency (DADA2) and to highlight the conditions that DADA2 should be considered in the differential diagnosis in patients with neurological findings.

Methods: A case series of six DADA2 patients was presented in this retrospective, descriptive study. Clinical and laboratory data, treatment protocols, and prognosis of the patients were recorded. A diagnosis of DADA2 was established by ADA2 enzyme activity assay and/or ADA2 gene sequencing.

Results: Six patients with DADA2 were included in the study. The median age at symptom onset was 6.5 years (range 3.5-13.5 years). The median time to diagnosis from the initial presentation was 9 (3-72) months. Consanguinity was present in the families of 4 cases. The skin, nervous system, and musculoskeletal system were the most commonly involved systems. Vasculitis mimicking polyarteritis nodosa (PAN) was the predominant phenotype (n=4) in our case series. Four patients with PAN-like features had neurological involvement. Ischemic strokes were found in 3 patients, cranial nerve palsy in 2 patients, and seizures in 2 patients. The CECR1 gene was analyzed in all patients. We analyzed plasma ADA2 enzyme activity only in one patient. Anti-tumor necrosis factor (TNF)-α therapy was initiated. Inflammation was suppressed and remission was achieved in all patients.

Conclusion: DADA2 should be considered in patients with PAN-like disease, a history of familial PAN/vasculitis, early-onset strokes/neurological involvement with systemic inflammation. Furthermore, anti-TNF-α therapy appears to be beneficial for the treatment of DADA2.

Objective: The birth of a visually impaired child leads to stress, disappointment, and medical challenges for the family due to the economic and financial costs, unmet expectations of other family members, and social embarrassment-isolation of the family from society. In these families, mothers are exposed to the stressors more often than other family members, because, in most families, they are the primary caregivers. In this study, we examined the relationship between maternal attachment styles, maternal depression and anxiety levels, and behavioral problems of children with visual impairment.

Methods: This is a case-control study. In the study group, there were 35 children with visual impairment, and in the control group, there were 31 healthy children. All mothers completed adult attachment style dimensions scales, beck depression, and anxiety inventories, and the aberrant behaviour checklist.

Results: Our results demonstrated that children with visual impairment have higher levels of behavior problems including irritability, stereotypic behavior, and inappropriate speech when compared with healthy controls. Contrary to our expectations depression and anxiety, scores of mothers were similar, also, there was not a difference in terms of maternal attachment types. Interestingly, there was a positive relationship between secure attachment and depression among mothers of the visual impairment group. In other words, securely attached mothers were more depressive. On the other hand, there was a positive relationship between anxious/ambivalent attachment and the child's irritability.

Conclusion: The relationship between maternal depression and secure attachment could be a consequence of higher maternal sensitivity due to a child's impairment and should be evaluated in future studies.

Objective: The aim of this study is to determine the incidence and characteristics of newborns with subconjunctival hemorrhage (SCH).

Methods: In our study, patient files of term infants referred to the study hospital's ophthalmology clinic in 2018-19 were analyzed. Demographic data of infants including gestational week, birth weight, gender, and head circumference were all recorded. The frequency of SCH detection was evaluated depending on delivery type. Demographic data of infants with and without retinal hemorrhage (RH) were compared.

Results: A total of 172 eyes of 86 infants were included in study. Forty-two (48.8%) of 86 neonates were male, and 44 (51.2%) were female. Mean gestational week was 38.62±1.1. SCH was detected in 31.4% (27) in the right eye, 36% (31) in the left eye, and 32.6% (28) in both eyes. The diagnosis was made at the mean of 3.74 days (range 1-20). Mean birth weight was found as 3621.1±453.3 g, head circumference as 35.4±1.3 cm, height as 50.7±2 cm, and chest circumference as 33.6±1.4 cm. Mean Apgar score in 1^st min was 7.1±0.4; 5^th min was 9. About 11.6% (10) of the mothers were nulliparous, and 88.4% (76) were multiparous. It was found that 79 of the deliveries were vaginal and seven with cesarean section. RH was not detected in any of the infants born with cesarean section.

Conclusion: SCH and RH were more common in infants born vaginally. If SCH is detected, a fundus examination should be performed to not miss possible RH.

Objective: Health anxiety is defined as the negative over-interpretation of the usual physical sensations, although the person does not have any physical illness. The study aims to evaluate the health anxiety levels of individuals over the age of 18 who admit to primary healthcare institutions in Eskisehir and the factors that may be associated with it.

Methods: This is a cross-sectional study. The study was conducted in adults who admitted to primary healthcare institutions in Eskisehir. The study group consists of 1200 individuals. For the purpose of collecting data, a questionnaire including the questions regarding the factors related to health anxiety and the Health Anxiety Scale were used. In the analysis of the data, a logarithm of The Short Health Anxiety Inventory (SHAI) scores was performed to determine the factors affecting the inventory score and hierarchical multiple linear regression analysis was used.

Results: The total scores from The SHAI ranged from 1 to 47, with an mean of 16.4±8.7 and a median score of 15. Of 41.9% of study group scored above mean score. Female gender, deterioration of family income, presence of chronic disease, worsening of general health status, symptoms of mental and behavioral disorders, high number of admissions to health institutions, and hospitalization history were found to be factors affecting the level of health anxiety.

Conclusion: Health anxiety was found to be an important problem among those who admitted to primary healthcare institutions in Eskisehir. Providing education to individuals in risky groups in terms of health anxiety, and these groups should be closely monitoring in terms of health anxiety and providing psychosocial support when necessary will prevent excessive use of health services in the long-term.

Objective: This study aimed to look for the initial manifestations of juvenile dermatomyositis (JDM), give follow-up results, and search for risk factors for the development of calcinosis.

Methods: The files of children with JDM diagnosed between 2005 and 2020 were reviewed retrospectively.

Results: The study included 48 children, 33 girls and 15 boys. The mean age at the onset of the disease was 7.6±3.6 years. The median duration of follow-up was 35 (6-144) months. Twenty-nine patients (60.4%) had monocyclic, 7 (14.6%) patients had polycyclic, and 12 (25%) patients had chronic persistent disease course. At the time of enrollment, 35 (72.9%) patients were in remission, while 13 (27.1%) patients had active disease. Calcinosis developed in 11 patients (22.9%). Children having myalgia, livedo racemosa, skin hypopigmentation, lower alanine aminotransferase (ALT) levels, and higher physician visual analog scores at the time of diagnosis had a higher risk for calcinosis. Calcinosis was also more common in children with diagnostic delay and chronic persistent disease course. None of these parameters remained independent risk factors for calcinosis in multivariate logistic regression analysis.

Conclusion: The rate of mortality has decreased dramatically over decades in JDM, but the rate of calcinosis has not changed proportionately. Long duration of active, untreated disease is accepted as the main risk factor for calcinosis. We have seen that calcinosis was more common in children having myalgia, livedo racemosa, skin hypopigmentation, lower ALT levels, and higher physician visual analog scores at the time of diagnosis.

Objective: The time perspective of individuals with chronic disease is a little-studied parameter. Our aim is to examine multiple sclerosis (MS) patients' time perspective and factors that may affect time perspective and to research the correlation of past, present, and future perspectives.

Methods: Demographic characteristics, the Zimbardo Time Perspective Inventory (ZTPI) score, and the expanded disability status scale score were recorded. Overall, 50 with MS were included in the study.

Results: We found that there was a significant difference between present-fatalistic (x=3.18), and present-hedonistic (x=3.49), (p=0.017); also between present-fatalistic (x=3.18), and future (x=3.57), (p=0.011). There was no significant difference in ZTPI scores between gender, place of residence, marital status, number of attacks, or education level.

Conclusion: MS patients focus mostly on the hedonistic dimension of the life than the fatalistic one in present time. We concluded that patients with MS focused mostly on the future. We found that our patients' present-fatalistic scores were lower, and the future was higher time perspective dimension.

Objective: This study aimed to determine the frequency of late-onset familial Mediterranean fever (FMF) and compare the clinical and genetic features, functional status, and health-related quality of life (QoL) of patients with early-onset and late-onset disease.

Methods: Patients with onset of symptoms ≤20 and >20 years of age were classified as early-onset and late-onset FMF, respectively. The clinical characteristics, MEFV gene mutations, and Pras disease severity scores were recorded. Physical disability and QoL were assessed with the health assessment questionnaire (HAQ) and short form 36 (SF-36), respectively.

Results: The mean age of 138 patients (104 women and 34 men) was 37.7±12.69 years. The percentages of patients with early- and late-onset FMF were 68.1% and 31.9%, respectively. Female sex, mild disease, arthritis, and sacroiliitis were more common in the late-onset group (p<0.05). The delay in diagnosis was shorter in the late-onset disease group (p<0.001). The percentage of homozygous M694V mutations was lower in late-onset disease (p=0.015). There were no differences in HAQ and SF-36 scores between early- and late-onset diseases (p>0.05).

Conclusion: The patients with late-onset FMF had a female predominance, a shorter delay of diagnosis, more frequent arthritis and sacroiliitis, a less frequent homozygous M694V mutation, and a milder disease severity than those with early-onset disease. Physical function and health-related QoL were similar in early- and late-onset FMF groups.

Objective: The aim of our study was to analyze the radiologic morphometry of the distal radius and wrist to assess acceptable limits for restoring normal wrist function after fracture.

Methods: Radiological measurement parameters were measured retrospectively on anteroposterior and lateral (LAT) wrist radiographs (n=981). Radiological measurement parameters were volar tilt, radial inclination, radial height, ulnar variance, radiocarpal angle, and volar angulation angle. The patients' age, gender, and side of the radiograph were recorded as demographic data.

Results: The mean volar tilt angle was 15.4±4.3 degrees. The mean radial inclination angle in males was 26.8±3.6 degrees. The mean radial height was 13.6±2.1 mm. The mean ulnar variance was 0.8±1.9 mm. One hundred and eighty-nine patients had negative ulnar variances. The mean radiocarpal angle was 12.3±2.7. The mean volar angulation angle was 32.1±6.9 degrees. Radial height was found to be positively correlated with radial inclination (p<0.001; r: 601), but it was not significantly correlated with ulnar variance (p=0.14).

Conclusion: Distal radius fractures are one of the most common types of fractures. Radiological measurement parameters were used in the determination and follow-up of the treatment. The values obtained in this study belong to the Turkish population. These values may be used as reference values in determining the quality of reduction after fracture and in the design of suitable implants for fracture treatment.

Objective: In immune thrombocytopenia (ITP), which is a common acquired bleeding disorder, cytotoxic T-cell-mediated cellular immune response against both circulating platelets and bone marrow megakaryocytes are the most important mechanisms in the pathogenesis.

Methods: In our study, we evaluated the features of 33 patients with ITP, over 80 years of age.

Results: The median age of the patients was 90, 15 patients were female (45.4%). The mean platelet count of the patients was 39×10⁹/L and the mean mean platelet volume was 10,33fL. Twelve patients had a target thrombocyte count greater than 30×10⁹/L, while 20 patients had a target platelet count of 75×10⁹/L or greater with an absolute indication of antiaggregation. In the environmental spread, 18 dysplasia findings were observed.

Conclusion: Morphologic observations suggesting dysplasia including micromegakaryocytes and a non-dysplastic but dysmegakaryopoietic finding, multiple segmented nuclei may be related to the degree of thrombocytopenia and response to treatment. Likewise, nondysplastic features including immature forms, emperipolesis, bare nucleus, hypolobulation, and hypersegmented nucleus were related to the degree of thrombocytopenia.

Primary soft-tissue extranodal lymphomas are rare clinical entities. By their natures, they can cause significant swelling around the affected extremities, and they can be easily misdiagnosed with other conditions like sarcomas. We share an unfortunate experience of a young male patient who was admitted to another clinic with complaints of a large mass in his right thigh, the patient has been diagnosed with anaplastic pleomorphic sarcoma, and he was scheduled for surgery. The patient refused the operation and was admitted to our emergency clinic with an open wound on his right thigh. Successful open wound management was achieved with antibiotic therapy, tissue debridement, larvae therapy, and Vacuum-assisted closure. Meanwhile, the pathologic re-examination revealed diffuse large B-cell lymphoma. After an uneventful follow-up, the patient was referred to the hematology clinic. This case highlights the importance of considering alternative diagnoses before making surgical intervention decisions that may result in unpleasing consequences.