This previously unreported c.532C>A /p.Arg178Ser heterozygous de novo mutation in the ACTG2 gene may lead to a severe form of MMIHS.

Isolated tubal torsions presenting to the emergency department are a very rare cause of pediatric acute abdominal pain. Since making the diagnosis early is of importance in terms of affecting tubal damage and fertility, we aimed to evaluate cases of isolated tubal torsions in light of the literature. This study included 10 patients under 18 years of age who presented to the emergency department with abdominal pain between January 2003 and December 2018. The mean age was 14.5 ± 1.43 years (range: 12–17 years). The demographic characteristics, surgical findings and techniques, and concomitant pathology results of these patients were retrospectively evaluated. The reason for presenting to the emergency department for the 10 patients included in the study was abdominal pain. The mean duration of hospital admission with pain was 4.97 days. The onset of pain was less than 24 h in seven patients (70%) and more than 24 h in three patients (30%). Of the patients, nine (90%) had tenderness in the lower abdominal quadrant, five (5%) had defense, and three (30%) had rebound. Nausea, vomiting and leukocytosis were present in 50% of the cases. Right and left tubal involvement of the cases was equal. Seven (70%) of the isolated tubal torsions were accompanied by paraovarian cysts. Eight patients (80%) underwent open surgery and two (20%) underwent laparoscopic intervention. Detorsion was performed on five (50%) patients and salpingectomy was performed on five (50%) patients. Isolated tubal torsion should be considered in children presenting with acute abdominal pain in early adolescence. Early diagnosis is important for the preservation of fertility.

Background: Acute appendicitis (AA) is the most common cause of emergency surgery. Therefore, perforation is common. Early diagnosis and new markers are needed. The aim of this study was to investigate the effects of plasma Fetuin-A (FA) levels in patients with an acute abdomen (AB). Material and Method: This prospective study included 107 patients younger than 16 years of age who were admitted to the emergency department for abdominal pain between January and December 2018. The patients who presented abdominal pain were divided into two groups as AA and other causes (OC) of AB. Patients with acute appendicitis; intraperitoneal, retrocolic/retrocecal, and appendicitis were divided into three groups. Additionally, the AA group was divided into two groups as perforated appendicitis and non-perforated appendicitis. Serum FA levels of the patients were evaluated in the emergency department. Results: In the AA group, C-reactive protein (CRP) and white blood cell (WBC) levels were higher, and FA levels were significantly lower than in the AB group. Intraperitoneal localization was 95.2% and perforation was frequent. When significant values in the univariate regression analysis for acute abdomen and perforation were compared in the multivariate regression analysis, CRP, WBC, and FA levels were found to be prognostic. Furthermore, decreased FA levels were associated with AA, while too greatly decreased FA levels were associated with the risk of perforation. Conclusion: Current diagnosis can be made by history, physical examination, laboratory, and imaging methods in appendicitis cases. While trying to diagnose AA in children, the FA, CRP, and WBC levels may be predictive values to identify risk factors.

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Testicular torsion is an important urological condition which is often seen in young males (between 12-18 years of age) but it can occur at any ages, even newborns and before birth. Testicular torsion usually requires emergency surgery, and the survival of testis can be achieved with surgery within 6-8 hr. However, prolonged cases may result in the death of the testis and surrounding tissues. Furthermore, torsion can decrease spermatogenesis and induce infertility (Moore