Latent autoimmune diabetes mellitus in children (LADC) with autoimmune thyroiditis and Celiac disease

Latent autoimmune diabetes mellitus in adults (LADA) is characterized by clinical presentation as type 2 diabetes mellitus after 25 years of age, initial control achieved with oral hypoglycemic agents for at least 6 months, presence of autoantibodies and some immunogenetic features of type 1 diabetes mellitus. An 8.3 year-old girl was referred to our pediatric endocrinology department because of incidental glucosuria. She did not complain of polyuria, polydipsia, or weight loss. Her body mass index (BMI) was at the 80th percentile. Fasting glucose was 126 mg/dl, and OGTT glucose level at 120 min was 307 mg/dl. Although C-peptide levels were normal, her first phase insulin response (FIR) was lower than the 1st percentile. Anti-insulin antibody (AIA), islet cell antibody (ICA), and anti-glutamic acid decarboxylase (antiGAD) were negative. According to the clinical and laboratory findings, she was diagnosed as having type 2 diabetes mellitus. She was started with oral anti-diabetic treatment for a period of 1 year. Insulin had to be initiated for worsening of HbA1c levels. In the fourth year of follow-up, she was admitted to our hospital with diabetic ketoacidosis although she was on an intensive insulin regimen. At this time, C-peptide levels were low, antiGAD and AIA were positive with HLA DR3/DQ2 haplotype. In addition, her thyroid peroxidase antibody and endomysium antibody were found to be high at follow-up. Small intestinal biopsy revealed celiac disease. This patient may represent the first case of latent autoimmune diabetes mellitus in children (LADC) with autoimmune thyroiditis and celiac disease.     

Structural variations and expression profiles of the SARS-CoV-2 host invasion genes in lung cancer

Recent days have seen growing evidence of cancer's susceptibility to severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) and of the effect of genomic differences on the virus' entrance genes in lung cancer. Genetic confirmation of the hypotheses regarding gene expression and mutation pattern of target genes, including angiotensin-converting enzyme-2 (ACE2), transmembrane serine protease 2 (TMPRSS2), basigin (CD147/BSG) and paired basic amino acid cleaving enzyme (FURIN/PCSK3), as well as correlation analysis, was done in relation to lung adenocarcinoma (LUAD) and lung squamous carcinoma (LUSC) using in silico analysis. Not only were gene expression and mutation patterns detected, but also there were correlation and survival analysis between ACE2 and other target genes expression levels. The total genetic anomaly carrying rate of target genes, including ACE2, TMPRSS2, CD147/BSG, and FURIN/PCSK3, was determined as 8.1% and 21 mutations were detected, with 7 of these mutations having pathogenic features. p.H34N on the RBD binding residues for SARS-CoV-2 was determined in our LUAD patient group. According to gene expression analysis results, though the TMPRSS2 level was statistically significantly decreased in the LUSC patient group compared to healthy control, the ACE2 level was determined to be high in LUAD and LUSC groups. There were no meaningful differences in the expression of CD147 and FURIN genes. The challenge for today is building the assessment of genomic susceptibility to COVID-19 in lung cancer, requiring detailed experimental laboratory studies, in addition to in silico analyses, as a way of assessing the mechanism of novel virus invasion that can be used in the development of effective SARS-CoV-2 therapy.     

Injuries of the vulva and vagina in childhood

Injuries of the vulva and vagina are relatively rare in children. Over a seven-year period, we treated 45 girls. The most common etiologic factor in our study group was trauma. While 28 had only vulvar lesions, the rest had injuries of both the vulva and vagina. Thirty-two children were treated surgically for only vulvar and vaginal injuries. However, additional organ treatment was mandatory for 13 children.     

Yasargil-Phynox aneurysm clip: a simple and reliable device for making a peripheral nerve injury

A great number of devices were used to make a peripheral nerve injury. In the scientific literature, experimental crush injuries have been usually created using forceps or hemostatic forceps, neither of which allows quantitative or standard application of compression. Therefore, we used a Yasargil-Phynox aneurysm clip to make a reliable and standardized peripheral nerve injury. The advantages and disadvantages of this clip were discussed. In particular, we think that standardization of the compression is necessary to compare interlaboratory results.     

An unusual auricular malformation accompanied by accessory tragus: macrotragus

Definition of malformations of the tragus is important for terminology and treatment. Most common entities are the skin tag, accessory tragus, preauricular sinus, and cyst, whereas macrotragus is an uncommon and unaddressed deformity that should be distinguished from these. In this report, three cases with diagnosis of the macrotragus are presented. The tragus was uniformly large and displaced anteriorly, and external auditory meatus was not obliterated in all cases. For correction, excision of the excess tragal cartilage and skin was performed. In all cases, bilaterally symmetric tragus was achieved. There were no complications in the early postoperative period and there was no enlargement after 6 months of observation. Macrotragus and accessory tragus are different entities that should be distinguished for accurate diagnosis. They have similar histopathological but distinct anatomical characteristics. Although both are treated by a simple excision, in the case of macrotragus, special effort should be taken to leave enough cartilage to restore normal tragal contours. Presented at the 5th Congress of the Balkan Association for Plastic, Reconstructive Aesthetic Surgery, Kuşadası, Turkey, May 22–26, 2007.