Imagawa-Matsumoto Syndrome: The First Case From Turkey.

Imagawa-Matsumoto syndrome (IMMAS; MIM #618786) is an autosomal dominant syndrome characterized by overgrowth, dysmorphic features, musculoskeletal abnormalities, developmental delay, and intellectual disability. The first case was reported in 2017 and has subsequently been diagnosed in only another 12 patients. We also present the first IMMAS patient from Turkey. A 19-year-old female was admitted to the neurology outpatient clinic due to a behavioral disorder and intellectual disability. Her physical examination revealed macrocephaly and dysmorphic features like a round face, broad forehead, hypertelorism, and variable skeletal anomalies such as flat feet, clinodactyly, and macrocephaly. Cranial magnetic resonance imaging (MRI) showed agenesis of the corpus callosum and polymicrogyria. Chromosomal analysis results were consistent with a normal constitutional female karyotype and microarray analysis showed a de novo 1.5-MB size deletion on the long arm of chromosome 17; band q11.2 encompassing the Polycomb Repressive Complex 2 Subunit (SUZ12 gene, MIM *606245). This report will contribute to the limited information in the literature.

Morphological and electrophysiological evaluation of median and ulnar nerve in complex regional pain syndrome type 1.

OBJECTIVE: Complex regional pain syndrome (CRPS) can be distinguished as type I without and type II with electrophysiological evidence of major nerve lesion. The pathophysiology of both subgroups is still under investigation. The aim of this research is to demonstrate the nerve morphology and electrophysiology in CRPS type I patients. MATERIALS AND METHODS: Bilateral median and ulnar nerve cross-sectional areas were evaluated with ultrasound and also median and ulnar nerve conduction studies of both hands were performed. Cross-sectional areas of median and ulnar nerves and nerve conduction studies in healthy controls were also obtained and compared with the patients. RESULTS: Twenty-five male patients and 11 healthy male controls were enrolled in the study. The mean age of the patients was 24.08 ± 5.50 years and controls was 23.18 ± 5.09 (p > 0.05). Compound muscle action potential (CMAP) and sensory nerve action potential (SNAP) amplitudes of the diseased side were found significantly lower than the healthy side (p < 0.05). Both median and ulnar nerve distal motor latency values were significantly higher in the patient group (p < 0.05). There was no significant difference in the median and ulnar nerve cross-sectional area when compared with the opposite extremity and healthy volunteers. CONCLUSION: The lower SNAP and CMAP amplitudes of the median and ulnar nerves compared to the healthy side and the prolongation of the affected side median and ulnar nerve distal motor latencies of the affected individuals may indicate axonal involvement in patients with CRPS type 1. Decreased CMAP amplitudes may also indicate muscle atrophy due to a decrease in the number of functional motor units.

Choroidal Vascularity Index as a Potential Inflammatory Biomarker for Obsessive Compulsive Disorder.

BACKGROUND: To evaluate choroidal vascularity index (CVI) and to investigate the association of CVI with neutrophil-to-lymphocyte ratio (NLR) as an indicator of inflammation in obsessive-compulsive disorder (OCD). MATERIAL AND METHODS: This prospective study included newly diagnosed OCD patients and healthy controls. All patients underwent EDI-OCT imaging to assess the subfoveal choroidal thickness (sCT) and peripapillary CT (pCT). CVI was defined as the ratio of luminal area to stromal area after binarization on EDI-OCT images. RESULTS: A total of 39 patients with OCD and 25 controls were included. The sCT, pCT, and CVI values were significantly higher in the OCD vs. control group (p˂0.05 for all). The NLR values were significantly higher in the OCD vs. control group (p = .007). A significant positive correlation was noted between CVI and NLR (p = .039). CONCLUSION: Our findings suggest that systemic inflammation may play a role in the pathogenesis of OCD.

UNCOMPLICATED PACHYCHOROID IN RELATION TO OBSESSIVE-COMPULSIVE DISORDER: AN OCT-ANGIOGRAPHY STUDY.

BACKGROUND: The aim of this study was to evaluate potential changes in choroidal flow in patients with newly diagnosed obsessive-compulsive disorder based on optical coherence tomography angiography findings and to investigate the relationship between subfoveal choroidal thickness and choriocapillaris flow area. METHODS: This prospective study included newly diagnosed obsessive-compulsive disorder patients and healthy controls. All patients underwent enhanced depth imaging-optical coherence tomography imaging to assess the subfoveal choroidal thickness and optical coherence tomography angiography imaging to evaluate the choriocapillaris flow area. RESULTS: A total of 55 patients with obsessive-compulsive disorder and 50 controls were included. The mean subfoveal choroidal thickness was significantly greater in the obsessive-compulsive disorder group compared to the control group (p˂0.001). Regarding the choriocapillaris flow area, the values for area with a radius of 1 mm, 2 mm and 3 mm were significantly lower in the obsessive-compulsive disorder group than in the control group (p=0.019, p=0.014, and p=0.004, respectively). There was a significant negative correlation between subfoveal choroidal thickness and choriocapillaris flow area with a radius of 1mm (r=-0.387, p=0.024). CONCLUSION: Choroidal changes in obsessive-compulsive disorder patients suggest the choroidal features of uncomplicated pachychoroid. Obsessive-compulsive disorder may be prone to a spectrum of conditions characterized by pachychoroid features.

Potential effects of metformin in DNA BER system based on oxidative status in type 2 diabetes.

Metformin is used to reduce hyperglycemia that induces energetic stress and leads to reduction in gluconeogenesis. Also, metformin inhibits complex I in oxidative phosphorylation, thereby decreasing cellular ATP levels. Activation of AMPK by the reduced ATP levels can induce inhibition of reactive oxygen species (ROS) production and activate p53-mediated DNA repair. DNA polymerase-ß and XRCC1 function to repair DNA damages in the BER (base excision repair) system. In type 2 diabetes patients, metformin can enhance AMPK activation therefore suppress oxidative stress. The changes on oxidative stress may alter p53's function and effect many cellular pathways such as; DNA repair. In our project we aim to understand the effects of metformin on p53 and DNA-BER system based on the oxidative status in type 2 diabetes patients. Oxidative and antioxidative capacity, catalase, SOD, GPx activities and, DNA pol beta, XRCC1 and p53 levels were measured in metformin using or non-using type 2 diabetes patients and controls. Metformin enhanced SOD and GPx activities in type 2 diabetes patients but the reflection of this increase to the total antioxidant capacity was not significant. Although the increase in DNA pol beta was not significant, XRCC1 and p53 levels were significantly upregulated with metformin treatment in type 2 diabetes patients. Our study reinforces the potential benefit of metformin in antioxidative capacity to protect cells from diabetic oxidative stress and in regulation of DNA BER system.

A Different Presentation of Mal De Meleda: New Skin Lesions in a Residual Limb after Traumatic Amputation.

Mal de Meleda is a rare autosomal recessive skin disease which is known as keratoderma palmoplantaris transgradiens. Here we report a case of Mal de Meleda who had skin lesions in the residual limb and pseudoainhum in the thigh after traumatic lower leg amputation. A 71-year-old female was admitted to our tertiary hospital for prosthetic rehabilitation. On the physical examination, thickening of the skin on palms, left sole and residual limb was present. The patient reported that she had these skin lesions since infancy and she realized new skin lesions after amputation in the residual limb. We requested dermatology consultation and she was diagnosed as Mal de Meleda. To our knowledge, this is the first Mal de Meleda case in the literature with new lesions at the residual limb. Although exact pathophysiological mechanisms are not well known in Mal de Meleda, prosthesis use might have accelerated disease process in our patient.