Novel mitochondrial DNA transversion mutation in transfer ribonucleic acid for leucine 2 (CUN) in a patient with the clinical features of MELAS

We describe an 11-year-old Saudi boy who had an encephalopathy suggestive of mitochondrial encephalomyopathy with lactic acidosis and strokelike episodes (MELAS). We screened his entire mitochondrial DNA coding region and detected one novel transversion point mutation at nt-12299 A > C in the transfer ribonucleic acid for leucine 2 (CUN) that is located in the anticodon loop. We believe that this mutation is the cause of his disease condition.     

Cognitive predictors of skill acquisition on social problem solving in patients with schizophrenia

The aim of the study was to evaluate the relationship between social problem solving ability, clinical features and cognitive functions, and determine the predictors of benefit from social problem solving training in 63 patients with schizophrenia. We administered Brief Psychiatric Rating Scale (BPRS), Wisconsin Card Sorting Test (WCST), Digit Span Test, Continuous Performance Test (CPT) and the Assessment of Interpersonal Problem Solving Skills (AIPSS). Only BPRS-positive symptoms subscale was negatively related to AIPSS on linear regression analysis. After the completion of the pretest, the patients were randomized to either problem solving training (n = 32) or control groups (n = 31). Patients in training group received 6 weeks problem solving training in-group modality, and those in control group were treated as usual. We readministered AIPSS at the end of 6 weeks. There were significant changes from pretest to posttest on AIPSS-total, AIPSS-receiving skills, and AIPSS-processing skills score in training group but not in control group. The number of correct answers in WCST and CPT hit rate were the predictors of post-training AIPSS scores in training group. Our findings suggest that skill acquisition on social problem solving is related with cognitive flexibility and sustained attention.     

Subcutaneous Sarcoidosis with Plantar Involvement

Sarcoidosis is a multisystem granulomatous disorder of an unknown etiology. Subcutaneous sarcoidosis is a rare manifestation of sarcoidosis, and plantar involvement is extremely rare and there is only one such case report in the medical literature. Herein we present an interesting case of a patient who was diagnosed as having subcutaneous sarcoidosis at a plantar localization because plantar involvement is extremely rare and also because of the successful outcome after performing intralesional corticosteroid therapy.     

Intralesional therapy for the treatment of keratoacanthoma

Keratoacanthoma (KA) is a common epidermal tumor that originates from the hair follicle of the skin. It is generally considered as a benign neoplasm, but in rare cases, it can also transform into squamous cell carcinoma. Although surgical excision with a safety margin is considered to be the gold standard treatment for most subtypes of KA, several other treatment options are also available. Intralesional therapy is one of these options, which could be cosmetically and functionally a better alternative to surgical removal, while it provides similar outcomes. It is more effective than topical treatments, yet fewer side effects may be seen than in systemic treatments. Based on the literature, the most commonly used intralesional agent is methotrexate, followed by 5‐fluorouracil and interferon alpha. Regardless of the advantages, which make intralesional therapy a desirable treatment alternative, guidelines for the intralesional treatment of KA are not yet established. A histopathological confirmation before the start of treatment is still recommended to prevent any possible misdiagnosis of KA for SCC. In our present study, we set out to review the current state of the art of the intralesional treatment of KA.     

Tibial nerve axonal excitability in type 1 diabetes mellitus

Introduction: The aim of this study was to determine alterations in axonal excitability in tibial nerve as compared with median nerve axonal excitability in patients with diabetic polyneuropathy. Methods: Six patients with diabetic polyneuropathy and 10 patients with diabetes mellitus without polyneuropathy were enrolled. Results: Compared with diabetic patients without polyneuropathy, the tibial nerve strength–duration time constant was significantly longer and supernormality was lower in those with polyneuropathy. Threshold electrotonus studies showed abnormalities in patients with diabetic polyneuropathy, in which smaller threshold changes from long-depolarizing and hyperpolarizing conditioning, termed “fanning-in,” were found. Discussion: This study confirms that axonal excitability is significantly altered in the tibial nerve of patients with diabetic polyneuropathy. Evaluating the axonal excitability of the median and tibial nerves may reveal the presence of length-dependent polyneuropathy at an early stage. Muscle Nerve 59 :76–81, 2019     

Fetal intraabdominal umbilical vein varix: antenatal diagnosis and management

Objective: Fetal intraabdominal vein varix (FIUVV) is a sonographic finding with unknown prevalence. We aimed to point out this particular abnormality and review possible associations and complications which may arise.

Method: We performed an unrestricted literature search via PubMed and included all cases diagnosed with FIUVV.

Case presentation: A 24-year-old, gravida 1 para 0 woman was referred to our clinic with possible diagnosis of FIUVV. We confirmed the diagnosis and detailed sonogram was normal. Beyond the gestational age of 32 weeks, intruterine growth restriction became evident. Close fetal surveillance was performed. We did not detect any thrombus formation within the varix or signs of cardiac decompansation during these visits. Delivery was planned after completion of 37 weeks. A healthy baby weighing 2100?g was delivered and discharged without any complications.

Conclusion: It is generally accepted that fetal anatomic survey is necessary after detection of FIUVV. Karyotyping could be performed for those cases associated with additional structural malformations. Close surveillance of fetal well being and growth is important. Possibility of thrombus formation within the varix should be kept in mind.     

The coexistence of invasive ductal carcinoma and malignant phyllodes tumor with liposarcomatous and chondrosarcomatous differentiation in the same breast in a post-osteosarcoma case

Malignant phyllodes tumors of the breast are rare biphasic neoplasms, the stromal component of which may show homologous and heterologous sarcomatous elements. Malignant epithelial transformation is rare. It has been reported in a few cases of in situ and infiltrating ductal or lobular carcinoma. Rarely, breast carcinomas and phyllodes tumors may also develop in the same breast independent of each other. To our knowledge, this is the first case of two different types of tumor occurring in the same breast at the same time in a post-osteosarcoma case.