Early-Onset Parkinson's Disease: A Novel Deletion Comprising the DJ-1 and TNFRSF9 Genes.

Patients with mutations in DJ-1 have early-onset Parkinson's disease and slow progression. Here we describe a Turkish family with a large deletion in the neighboring genes DJ-1 (del exons 1-5) and TNFRSF9 (del exons 1-6), raising the question if TNFRSF9 is a possible disease modifier.

Use of radiological tests in COVID-19 positive child cases: Is chest computed tomography necessary?

OBJECTIVE: This study aimed to correlate the radiographic findings of the coronavirus disease 2019 (COVID-19) positive children with their clinical and laboratory findings and discuss the frequency and necessity of chest computed tomography (CT) used for the radiological imaging in paediatric patients with COVID-19 infection. MATERIALS AND METHODS: Sixty-nine paediatric inpatient cases were retrospectively analysed using their clinical, laboratory and imaging features. The National Public Health Guide was used in the diagnosis and treatment of paediatric patients. COVID-19 infections for all patients were confirmed by the COVID-19 nucleic acid test using a pharyngeal swab. RESULTS: The median age of the patients was 11 years [3-15]. The most common clinical symptoms were fever (40.6%) and cough (33.3%). When the laboratory findings of patients were examined, the median white blood cell (WBC) count was 5.8/mm3 (4.8-8.05/mm3 ), median lymphocyte count was 2.3/mm3 (1.7-3.55/mm3 ) and median C-reactive protein (CRP) level was 2.3/mm3 (1-2.1/mm3 ). All patients had chest radiographs (CRXs), while only 44.9% of the patients underwent a chest CT. The 8.7% of CXRs and 12.8% of chest CT findings were found as pathological. Ground-glass opacity was the most frequent finding. In the tomography group, the count of lymphocytes was lower, and creatine kinase (CK) and lactate dehydrogenase (LDH) levels were significantly higher. The patients with pathological tomography findings demonstrated no statistically significant difference in lymphocyte count and CK and LDH levels; however, their CRP value was significantly higher. CONCLUSION: In this study, it is emphasised that chest CT should be requested by considering the underlying diseases and severity of clinical findings in paediatric patients. In this way, unnecessary chest CT could be prevented in the paediatric population.

Features of Terra Firma-Forme Dermatosis.

Terra-firma-forme dermatosis (TFFD) is a little known hyperpigmented skin disease that is more common than expected. We examined retrospectively the medical records of 79 patients: 88.6% were children, the mean age was 10.4 years (SD = 7.5 years), and 64.6% were female. The dermatoses were found on the trunk in 27.8%, extremities in 26.6%, fold zones in 8.9%, and head in 2.5% of the patients. The lesions appeared in more than 1 location in 34.2% of the patients and were symmetrically located 77.2% of the time. Swabbing with alcohol is sufficient for diagnosis and treatment. TFFD, mostly seen in children and female patients, should be kept in mind to avoid unnecessary diagnostic testing and treatment.