Clinical manifestations in trisomy 9 mosaicism.

Pejcic L, Stankovic T, Ratkovic-Jankovic M, Vasic K, Nikolic I. Clinical manifestations in trisomy 9 mosaicism. Turk J Pediatr 2018; 60: 729- 734. Trisomy 9 is a rare chromosome abnormality which can occur in a mosaic or nonmosaic state with similar clinical features. The authors present a male with mosaic trisomy 9 from birth to 6 months of life. Clinical manifestations included growth retardation, facial dysmorphism with marked hemi facial hypoplasia and facial asymmetry, single palmar flexion crease, retro calcaneovalgus feet, atrial septal defect, undescended testes and hypospadia. He had several episodes of seizures and ultrasound examination described severe ventriculomegaly, with poorly differentiated parenchyme. These findings are compared to the other previously described cases of trisomy 9 mosaicism through a review of literature.

Neonatal tetanus--report of a case.

Neonatal tetanus is a severe, often fatal disease caused by the toxin Clostridium tetani. Neonatal tetanus is a generalized tetanus, which occurs in a neonate between 3-28 days of life. The findings indicated that tetanus in a newborn of an unvaccinated mother occurred after the application of non-sterile clay to the umbilical cord. This case was a seven-day-old male baby with progressive difficulty in feeding, trismus, hypertonicity, opisthotonos, and heart murmur. The patient was afebrile and eupneic, and had a history of non-sterile home delivery. In the past, the area of Bujanovac, Medvedja and Presevo had been exposed to mass immigration (especially due to the war in the territory of former Yugoslavia), which caused a serious problem for general practitioners, who had to be vigilant and ensure that all patients registered in their practice were fully immunized. This case has provided a clear indication of the necessity for strategies of both vaccination and ensuring hygienic conditions throughout pregnancy and delivery to prevent neonatal tetanus.

[Significance of serum tumor markers monitoring metastases in carcinomas of unknown primary site].

BACKGROUND/AIM: Unknown primary tumors represent a heterogeneous group of malignancies that are indicative of ominous prognosis. Cancer of unknown primary site (CUP) is defined as the lack of any detectable primary site after full evaluation, and accounts for approximately 3-5% of all newly diagnosed patients with malignancies. The aim of this report was to present the prognostic and predictive value of 8 serum tumor markers in this group of patients. METHODS: The study involved 63 patients. On histological examination, all the patients were presented with metastatic tumors whose primary site (origin) could not be detected with noninvasive diagnostic techniques. Following the routine light microscopy, all histological findings were classified into one of the following three groups: plano-cellular carcinoma--8 patients; adenocarcinoma--33 patients; unclassifiable (undifferentiated) carcinoma--22 patients. In all the cases we evaluated 8 serum tumor markers: alpha-fetoproteins (AFP), chronic gonadotrophin beta submit, human (beta-HCG), neuron specific enolase (NSE), marker of malignant ovarian tumors (CA 125), prostate-specific antigene (PSA), marker of malignant brest tumor (CA 15-3), marker of malignant pancreas tumor and gastrointestinal tumor (Ca 19-9), carcinoembryonic antigen (CEA) at the time of diagnosis. The patients on chemotherapy had the markers determined after the third and sixth chemocycle, i.e. at the time of illness progression observation, if present. The patients responding to chemotherapy with complete response (CR), partial response (PR) or stable disease (SD) had the markers determined after three-month periods until the time of relapse or progression. Chemotherapy was applied in 32 patients (20 females and 12 males), aged 29-70 years, who met the inclusion criteria. The following chemotherapy regimen was used: doxorubicin 50 mg/m2 (day 1), cisplatin 60 mg/m2 (day 1), and etoposide 120 mg/m2 (days 1-3). The period between two chemotherapy cycles was three weeks, and maximum five weeks in the case of prolonged hematological toxicity. RESULTS: Most commonly elevated were NSE values (82.54%), while AFP values were least commonly elevated (11.11%). Average survival time was 17.89 months (95% CI 12.96; 22.83). The probability of 24 months' survival was 0.228. The group of 32 patients treated with chemotherapy had 12 (37.5%) fatal outcomes in the observed period (72 months). Average survival time was 26.6 months (95% CI 19.5; 33.7). Average tumor marker values before and after the chemotherapy were significantly lower for NSE and CA 125. Survival was significantly better in cases of NSE and CA 125 decrease of more than 20%. CONCLUSION: Increased values of serum tumor markers are very often in CUP. The tumors show nonspecific overexpression of tumor markers. The NSE and CA 125 levels show good correlation with response to the given chemotherapy. However, a routine evaluation of commonly used serum tumor markers has not been proven of any prognostic and predictive assistance.

Vomiting as the initial clinical presentation of myocardial infarction in children with anomalous left coronary artery from the pulmonary trunk.

Anomalous origin of the left coronary artery from the pulmonary trunk is a rare condition. The clinical presentation is usually nonspecific and varies from completely asymptomatic form to sudden cardiac death. We report a two-month-old infant with vomiting as a presenting symptom of anomalous origin of the left coronary artery from the pulmonary trunk.

Heart rate variability in children with idiopathic ventricular tachycardia.

Idiopathic ventricular tachycardia (IVT) is a rare arrhythmia in children. A great deal of uncertainty and numerous questions still remain regarding the extent of investigation, therapy, and long-term prognosis for children with IVT. The existence of subclinical cardiac disease, as well as of autonomic dysfunction in patients with ventricular arrhythmias, has been well documented. A number of experimental and clinical studies have suggested that imbalances within the cardiac autonomic system's activity may be crucial in the generation of ventricular tachycardia, irrespective of the presence of cardiovascular pathological substrate. Heart rate variability (HRV) analysis provides a useful method for measuring the autonomic activity. This study evaluates HRV in children with IVT. The study included 31 children with ventricular arrhythmia who were divided into two groups: (1) patients with frequent ventricular extrasystoles (VES) and (2) patients with IVT. The control group comprised 23 healthy children without pathological findings on 24-h ECG Holter. Twenty-four-hour ambulatory electrocardiography recordings were obtained, and the time-domain variables were calculated. HRV was compared to age-related normal values. It was observed that the overall heart rate variability is diminished in children with IVT. We recommend HRV analysis of any child with IVT. Quantification of the autonomic nervous system activity using time domain analyses may be a helpful diagnostic tool in the clinical assessment and initial evaluation of these children.