Vitamin D insufficiency in a boy with obsessive–compulsive disorder

Vitamin D deficiency not only causes low bone mass but also may lead to neuropsychiatric disorders. In the present case, vitamin D supplementation reduced obsessive–compulsive disorder (OCD) symptoms associated with streptococcal infection in a 7‐year‐old boy. Sudden onset of symptoms, including excessive hand washing and fear of touching anything, had occurred 1 month before presentation. Although there are few studies on a possible causal relationship between vitamin D and neuropsychiatric disorders, the present report; together with previous data, suggest an etiological role of vitamin D‐related immune processes.     

Tyrosinemia type II: Novel mutations in TAT in a boy with unusual presentation

Tyrosinemia type II is a rare autosomal recessive disorder caused by deficiency of tyrosine aminotransferase (TAT). It may occur with ocular and cutaneous symptoms with or without mental retardation, but epileptic seizure is a rare presentation of this disease. Herein we report the clinical, biochemical and genetic features of a 4‐year‐old boy who presented with afebrile seizure and photophobia. Genomic DNA was obtained from peripheral blood leukocytes from the whole family. Sequencing analysis was performed using the MiSeq next‐generation sequencing platform. Sequencing of TAT indicated two new homozygous mutations p.L312P (c.935T>C) and p.T408M (c.1223C>T) for the proband and his asymptomatic sister. During a 2 year follow‐up period, the patient had overall poor compliance with protein‐restricted diet, but his asymptomatic sister had good compliance with the diet. Cognitive function of the patient worsened steadily, but his asymptomatic sister maintained normal mental status. Tyrosinemia type II should be considered in the differential diagnosis of children presenting with epileptic seizure and photophobia; furthermore, early diagnosis and protein‐restricted regimen are important to reduce the risk of long‐term complications of tyrosinemia type II such as mental disability.     

c-KIT expression in columnar cell lesions of the breast accompanied by benign and malignant breast diseases

Columnar cell lesions (CCLs) of the breast are reported with increasing frequency. However, the significance of these lesions and the treatment approach to these lesions are still unknown. The aim of the present study was to evaluate c-KIT expression in CCLs accompanying benign and malignant breast diseases. A total of 65 patients (18 benign breast diseases, 8 ductal carcinomas in situ (DCI), and 39 invasive carcinomas) were included in the study. c-KIT was strongly expressed in normal breast epithelium (staining intensity; SI: 3 +/- 0.0), whereas a heterogeneous and cytoplasmic staining pattern was observed in CCLs accompanying both benign and malignant diseases. c-KIT expression was decreased, with increasing atypia in CCLs (SI in CCLs with/without atypia; 1.45 +/- 0.52/no case, 1.25 +/- 0.50/1.38 +/- 0.52, 0.77 +/- 0.73/1.21 +/- 0.42 accompanying benign breast disease, DCI and invasive carcinoma, respectively). c-KIT expression was detected in 10.4% of invasive carcinomas. No significant association between c-KIT expression and the histologic grade and nodal status of tumor was noted. As there is a reduction in c-KIT expression with malignant transformation of breast epithelium, c-KIT is believed to play a role in breast carcinogenesis. Furthermore, similar c-KIT expression patterns in CCLs accompanying malignant breast diseases suggest that at least some CCLs could reflect a premalignant status of breast carcinoma. However, the significance of c-KIT expression in CCLs and its relationship to breast carcinogenesis should be evaluated in follow up studies investigating larger series.     

ERN varies with degree of psychopathy in an emotion discrimination task

It is hypothesized that anterior cingulate cortex (ACC) function may be disrupted in psychopathy. Since ACC is considered the generator of the error-related negativity (ERN), we expected the ERN to be sensitive to the degree of psychopathy among violent offenders. EEG was collected while offenders and controls responded to a standard letter flanker task and to a face flanker task that required discrimination between angry and fearful expressions. Offenders were as accurate as controls on the letter flanker task but made more errors in emotion discrimination on the face flanker task. ERNs elicited by letter flanker errors did not differ across groups but were markedly reduced in the offenders in the face flanker condition. These effects were related to the degree of psychopathy within the offender group. Source modelling of the ERN also indicated an atypical response for psychopaths when error monitoring required the discrimination of affectively based information.     

Cellular diversity of human placental stem villi: an ultrastructural and immunohistochemical study

The aim of the study was to investigate the distribution and differentiation of cell types in the stroma of human placental stem villi (SV). A total of 14 human term placental tissues were studied. Double immunolabeling was performed for desmin-vimentin, desmin--smooth actin and vimentin--smooth actin. Cytokeratin 7, proliferating cell nuclear antigen immunolabeling was also performed. Parallel tissue samples were examined by transmission electron microscopy. HSCORE was performed for the semi-quantitative analysis of distribution of cells in the stroma of SV. Vimentin-labeled cells were mostly distributed in the subtrophoblastic area. Desmin-vimentin double immunolabeling was mainly localized in the triangular area and to a lesser degree in the perivascular area and vessel walls (p=<0.001). However, desmin- smooth actin labeling was observed predominantly in the vessel wall and perivascular area. Vimentin- smooth actin immunoreactivity was significantly stronger in the triangular and perivascular areas compared to the vessel walls (p=0.003).

Ultrastructurally, cells in the stroma of SV were mesenchyme cells, reticulum cells, fibroblasts, myofibroblasts, smooth muscle cells, and Hofbauer cells, filamented and vacuolated cells. The differentiation of myofibroblasts in the triangular and perivascular areas may play a role in maturation of SV and villous contractility, modulation of the intervillous space and this may have effects on maternofetal placental circulation.     

Determining a continuous marker for sleep depth

Detection and quantification of sleep arousals is an important issue, as the frequent arousals are known to reduce the quality of sleep and cause daytime sleepiness. In typical sleep staging, electroencephalograph (EEG) is the core signal and based on the visual inspection of the frequency content of EEG, non-rapid eye movement sleep is staged into four somewhat rough categories. In this study, we aimed at developing a continuous marker based on a more rigorous spectral analysis of EEG to measure or quantify the depth of sleep. In order to develop such a marker, we obtained the time-frequency map of two EEG channels around sleep arousals and identified the frequency bands that show the most change during arousals. We then evaluated classification performance of the potential signals for representing the depth of sleep, using receiver operating characteristic analysis. Our comparisons based on the area under the curve values revealed that the sum of absolute powers in alpha and beta bands is a good continuous marker to represent the depth of sleep. Higher values of this marker indicate low-quality sleep and vice versa. We believe that use of this marker will lead to a better quantification of sleep quality.     

Trunk muscle strength in relation to balance and functional disability in unihemispheric stroke patients

OBJECTIVE: To evaluate trunk muscle strength in unihemispheric stroke patients and to assess how it relates to body balance and functional disability in this patient group. DESIGN: This prospective case-comparison study investigated isometric and isokinetic reciprocal trunk flexion and extension strength at angular velocities in 38 unihemispheric stroke patients and 40 healthy volunteers. The Berg balance scale was used to assess balance and stability, and the FIM instrument was used to evaluate functional disability in the patient group. Patients were evaluated as soon as they were able to stand long enough for testing. RESULTS: Peak torque values for trunk flexion and extension were lower in the stroke patients than in the controls. The differences were significant for trunk flexion and for trunk extension. In both groups, peak torque values for trunk flexors were greater than peak torque values for trunk extensors. There was a significant positive correlation between trunk muscle strength and Berg balance scale score at discharge. Trunk muscle strength was not correlated with FIM total score or FIM motor score, but the locomotion-transfers FIM subscore at discharge was positively correlated with trunk muscle torque values, except for isometric extension. CONCLUSION: The findings indicate trunk flexion and extension muscle weakness in unihemispheric stroke patients, which can interfere with balance, stability, and functional disability.     

Coronary artery thromboembolism: Unexpected presentation of left atrial myxoma covered with thrombus

Cardiac myxomas are benign primer cardiac tumors of the heart. They can be fatal with a thromboembolic presentation. Myocardial infarction is one of these unusual thromboembolic presentations. We report a patient who presented with cardiac arrest due to ventricular fibrillation related to myocardial infarction. After successful resuscitation, coronary angiography and transthoracic echocardiography were performed. A left atrial mass was observed and interpreted as a possible cause of coronary embolism leading to myocardial infarction. After surgical excision, the pathological examination confirmed myxoma, which was the essential cause of the tendency to arterial embolism.     

Surgical rehabilitation following ocular chemical injury

Purpose: The purpose of this study is to evaluate the management of limbal stem cell deficiency (LSCD) secondary to chemical ocular burns.

Materials and methods: The charts of 48 eyes of 40 patients with grade 2 or higher chemical injury were evaluated retrospectively. Subjects with follow-up longer than 1 year were included. Medical treatment, surgical correction of abnormalities of ocular adnexial structures, limbal stem cell transplantation from patient’s fellow eye, from living relatives or from cadaveric donor, amniotic membrane transplantation, conjunctival epitheliectomy, chelation with ethylenediaminetetraacetic acid and penetrating keratoplasty were the treatment modalities. Outcome measures were ocular surface stability and corrected distance visual acuity (CDVA). Failure was defined as the appearance of persistent epithelial defect (nonhealing epithelial defect for more than 2 weeks) with progressive corneal conjunctivalization/vascularization and thinning, and also progression of conjunctivalization to the central 6?mm of the cornea in eyes with subsequent keratoplasty.

Results: The mean age of 31 male and 9 female patients were 32.32?±?12.6 years. LSCD was bilateral in 8 cases. The mean follow-up was 77.2?±?35.1 months. The presentations were in acute phase in 37.5%, in subacute phase in 32.5% and in chronic phase in 30% of the patients. Only 13 of 48 (27.1%) eyes obtained sufficient ocular surface stability through medical treatment; however, only 5 of these eyes achieved CDVA of less than 0.7 logMAR. Limbal stem cell transplantation was performed in 26 eyes as conjunctival limbal autograft, living-related conjunctival limbal allograft and keratolimbal allograft or as a combination of these transplantations. At the last visit, 30 eyes (62.5%) had an intact and stable ocular surface. Clear cornea was achieved in 11 (78.6%) of 14 eyes with grade 2 injury, in 9 (60%) of 15 eyes with grade 3 injury, in 5 (50%) of 10 eyes with grade 4 injury, in 1 (16.6%) of 6 eyes with grade 5 injury and in 1 (33.3%) of 3 eyes with grade 6 injury. The CDVA that was 1.66?±?0.99 logMAR initially improved to 0.87?±?0.85 logMAR at the last visit (p?Conclusion: While patients with low-grade chemical injury seem to benefit quite well from the medical treatment, amniotic membrane transplantation, limbal graft transplantation and subsequent keratoplasty; patients with severe injuries seem to be more prone to failure after all of the available treatment modalities.