Magnetic Resonance Spectroscopy of the Thalamus in Essential Tremor Patients

BACKGROUND AND PURPOSE: Although essential tremor (ET) is one of the most common movement disorders, its pathogenesis remains obscure. The ventral intermediate nucleus of the thalamus (VIM nucleus) is suggested to play an important role in the occurrence of disease. In this study, the authors investigated the presence of biochemical or metabolic alterations in the thalamus of patients with ET using magnetic resonance (MR) spectroscopy. METHODS: The study group included 14 patients with ET who suffered from tremor predominantly in their right arm and 9 healthy controls. All patients and controls were right handed. Following conventional cranial MR imaging, single voxel proton MR spectroscopy of the thalamus involving the VIM nuclei was performed bilaterally in both the patients with ET and controls. Metabolite peaks of choline (Cho), creatine (Cr), and Nacetylaspartate (NAA) were obtained from each spectroscopic volume of interest. The right and left thalamic NAA/Cr and Cho/ Cr ratios were compared first within the patient group and then between the control and patient groups. The differences in age and spectroscopic data between groups were assessed using the Mann-Whitney U test, whereas the comparison within groups between left thalamus and right thalamus was done by the Wilcoxon test. RESULTS: In patients with ET, the NAA/Cr ratio of the right thalamus was found to be significantly higher than the NAA/Cr ratio of the left thalamus (P= .02). However, NAA/Cr and Cho/Cr ratios were found to be similar (P> .05) when we compared the control and patient groups for the right thalamus and then the left thalamus. CONCLUSION: These data present preliminary evidence for metabolic alterations of the contralateral thalamus (namely, low NAA/Cr ratio) in ET patients with predominantly involved right arm. However, the series is small and further data are necessary to clear the subject adequately.     

Mycobacterial infection of intraparenchymal bronchogenic cysts

Bronchogenic cysts (BCs) may rarely cause some interesting and unusual complications. Although infection is a common complication of BCs, there are only two patients with BC infected with mycobacterium in English literature. Two intraparenchymal BCs infected with mycobacterium are presented here as unusual complications. Cystectomy was performed for the cysts. They were given antituberculosis treatment. No complication or recurrences were detected in follow up period.     

Improving the Informed Consent Process in Hematopoietic Cell Transplantation: Patient,Caregiver, and Provider Perspectives

One of the significant modifications to the Common Rule is the requirement that prospective participants be given information sufficient for a “reasonable person.” However, research is limited on what types of information patients, caregivers, and providers consider “key information.” Although certain aspects of informed consent (IC) may be considered standard, considering the individualized needs and preferences of patients is necessary for patient-centered consent. In this study, we qualitatively examined the specific types of information that patients and caregivers involved in hematopoietic cell transplantation (HCT), as well as their providers, believe to be important and necessary as part of the IC process to make a decision about participating in clinical research; and further, how these perspectives are aligned. Our findings suggest opportunities for improving the IC document and process by emphasizing information of importance to patients, such as the benefits to others and contributions to science that are associated with participation in clinical research. Furthermore, increasing patient engagement during the IC process may allow providers to streamline information that is aligned with patient information needs and preferences.     

Lateralization of Neurobiological Response in Adolescents with Post-Traumatic Stress Disorder Related to Severe Childhood Sexual Abuse: the Tri-Modal Reaction (T-MR) Model of Protection

This study inquires into neurobiological response to stress and its clinical correlates among adolescents with post-traumatic stress disorder (PTSD). Structural magnetic resonance imaging (MRI) measures of cerebral anatomy were carried out on 23 female adolescents with PTSD related to severe childhood sexual abuse and 21 matched healthy controls. Clinician Administered PTSD Scale for Children and Adolescents, Adolescent Dissociative Experiences Scale, Childhood Trauma Questionnaire, Schedule for Affective Disorders and Schizophrenia for School Age Children, Beck Depression Scale, and a set of neuro-cognitive tests were administered to all participants. Compared to controls, PTSD group bilaterally had smaller amygdala, hippocampus, anterior cingulate, and thinner prefrontal cortex but normal thalamus. Further analyses within the PTSD group suggested an association between symptoms of PTSD and sizes of right brain structures including smaller amygdala but larger hippocampus and anterior cingulate. Thinner right prefrontal cortex and larger right thalamus seemed to be related to denial and response prevention, respectively. Being related to both hemispheres, dissociative amnesia was negatively associated with proportion of the right amygdala to right thalamus and to both left and right prefrontal cortex. Suggesting a neuro-protective effect against traumatic stress at least through adolescence, depersonalization–derealization and identity alteration were correlated with thicker left prefrontal cortex. Unlike the lateralization within PTSD group, correlations between regions of interest were rather symmetrical in controls. The graded response to stress seemed to be aimed at mental protection by lateralization of brain functions and possibly diminished connection between two hemispheres. A Tri-Modal Reaction (T-MR) Model of protection is proposed.     

Bilateral adnexal torsion due to postmenopausal hydatidiform mole

Occurrence of gestational trophoblastic neoplasia (GTN) and adnexal torsion is rare in postmenopause. We report a 58-year-old postmenopausal woman with adnexal torsion caused by hydatidiform mole. The patient was admitted to our clinic complaining of acute abdominal pain, nausea and vomiting lasting one day. Ultrasonography showed an enlarged uterus including hypo/hyperechogenous cystic areas in the endometrial cavity and bilateral adnexal masses. β-HCG level was investigated and determined as 157.000 IU/l, because of the suspicion of GTN in ultrasonography. Doppler sonography revealed enlarged left adnexa with absence of vascular flow. The patient underwent total abdominal hysterectomy and bilateral salpingo-oophorectomy. β-HCG decreased to normal ranges in the fourth postoperative week. The resected uterus contained an endometrial, cystic, grapelike tumor. The ovaries were enlarged bilaterally with necrotic appearance. Histopathology revealed complete hydatidiform mole and theca lutein cysts. To our knowledge, the present case is the first hydatidiform mole associated with bilateral adnexal torsion caused by theca lutein cysts in postmenopausal period.     

Primary antibody deficiencies in Turkey: molecular and clinical aspects

Primary antibody deficiencies (PAD) are the most common subtype of primary immunodeficiencies, characterized by increased susceptibility to infections and autoimmunity, allergy, or malignancy predisposition. PAD syndromes comprise of immune system genes highlighted the key role of B cell activation, proliferation, migration, somatic hypermutation, or isotype switching have a wide spectrum from agammaglobulinemia to selective Ig deficiency. In this study, we describe the molecular and the clinical aspects of fifty-two PAD patients. The most common symptoms of our cohort were upper and lower respiratory infections, bronchiectasis, diarrhea, and recurrent fever. Almost all patients (98%) had at least one of the symptoms like autoimmunity, lymphoproliferation, allergy, or gastrointestinal disease. A custom-made next-generation sequencing (NGS) panel, which contains 24 genes, was designed to identify well-known disease-causing variants in our cohort. We identified eight variants (15.4%) among 52 PAD patients. The variants mapped to BTK (n?=?4), CD40L (n?=?1), ICOS (n?=?1), IGHM (n?=?1), and TCF3 (n?=?1) genes. Three novel variants were described in the BTK (p.G414W), ICOS (p.G60*), and IGHM (p.S19*) genes. We performed Sanger sequencing to validate pathogenic variants and check for allelic segregation in the family. Targeted NGS panel sequencing can be beneficial as a suitable diagnostic modality for diagnosing well-known monogenic PAD diseases (only 2–10% of PADs); however, screening only the coding regions of the genome may not be adequately powered to solve the pathogenesis of PAD in all cases. Deciphering the regulatory regions of the genome and better understanding the epigenetic modifications will elucidate the molecular basis of complex PADs.

     

Correction to: Primary antibody deficiencies in Turkey: molecular and clinical aspects

Immunologic Research -     

Lowered IL-37 gene expression and elevated IL-37-producing tissue-resident immune cells in psoriasis lesional biopsies

Psoriasis is an immune cell-dependent chronic autoimmune skin disorder. Interleukin 37 (IL-37) is a cytokine belonging to the IL-1 family that shows anti-inflammatory and protective effects in various mouse models of psoriasis. Even though various animal models are used to investigate the pathogenic mechanisms of psoriasis, human clinical studies are still needed to make up for the deficiencies, as animal models generally do not exhibit the complex phenotypic features of human psoriasis. Our study aims to demonstrate the relationship between IL-37-producing tissue-resident immune cells with the pathogenesis of psoriasis. The present study was performed on 28 psoriasis patients and 17 healthy volunteers. The ability of anti-inflammatory cytokine IL-37 to impede inflammation and regulate metabolic pathways was assessed by real-time quantitative polymerase chain reaction. Finally, immunofluorescence double staining for CD4⁺IL-37b⁺, CD68⁺IL-37b⁺, and (forkhead box protein P3) Foxp3⁺IL-37b⁺ was performed. The proportion of CD4⁺IL-37b⁺ T cells, CD68⁺IL-37b⁺ macrophages, and Foxp3⁺IL-37b⁺ T regulatory (Treg) cells was significantly increased in the psoriasis group compared to the control group. IL-37 gene expression was downregulated in psoriasis when contrasted to the control group. Our findings disclosed that IL-37-producing tissue-resident immune cells might be involved in the pathogenesis of psoriasis, and thus may be a therapeutic target for individuals with psoriasis.     

Contribution of DOG1 expression to the diagnosis of gastrointestinal stromal tumors

Gastrointestinal stromal tumors (GIST) are the most common mesenchymal tumors of the gastrointestinal tract, and the majority contain KIT or PDGFRA-activating mutations. However, up to 10% of GISTs are c-kit-negative. Antibodies with increased sensitivity and specificity for the detection of c-kit-negative GIST cases may be of value, especially because some of these cases may also benefit from tyrosine kinase inhibitor therapy.     

Dysembryoplastic neuroepithelial tumors: proton MR spectroscopy,diffusion and perfusion characteristics

Introduction We describe the magnetic resonance (MR) imaging characteristics of dysembryoplastic neuroepithelial tumors (DNT) and discuss their differential diagnosis. Material and methods Proton MR spectroscopy (TE 30 and 136 ms), diffusion-weighted and perfusion images were retrospectively evaluated in 22 patients with pathologically proven DNT (17 male and 5 female, mean age 18.7 years) and 14 control subjects (10 male and 4 female, mean age 16.9 years). The results from the DNT patients and from the control subjects were compared using an independent sample t-test and the degree of correlation was tested by Pearson’s correlation. Results All DNTs were solitary and in a supratentorial cortical or subcortical location (ten temporal, eight frontal and four parietal). They had low-signal on T1-weighted images and high-signal on T2-weighted images without a prominent mass effect. Additionally a cystic appearance (six patients, 27.3%), cortical dysplasia (six patients, 27.3%) and contrast enhancement (four patients, 18.2%) were also noted. No significant differences were detected in NAA/Cho, NAA/Cr, NAA/Cho+Cr or Cho/Cr ratios between DNT and normal brain. DNTs had a significantly higher mI/Cr ratio and apparent diffusion coefficient (ADC) values and lower cerebral blood values than normal parenchyma (P < 0.001). ADC had the highest correlation with the diagnosis of DNT (r = 0.996) followed by relative cerebral blood volume (rCBV) (r = −0.883) and mI/Cr ratio (r = 0.663). Conclusion Proton MR spectroscopy, diffusion-weighted and perfusion imaging characteristics of DNTs provide additional information to their MR imaging findings. The MR spectrum showing a slight increase in mI/Cr ratio, and higher ADC and lower rCBV values than normal parenchyma help to differentiate DNTs from other cortical tumors, which had higher rCBV and lower ADC values than DNTs. This work was presented at the ASNR 45th Annual Meeting 2007.