PARK2 Microdeletion or Duplications Have Been Implicated in Different Neurological Disorders Including Early Onset Parkinson Disease.

The PARK2 gene is located on 6q26, encodes ubiquitin-E3- ligase, and is a transcriptional repressor of p53. It contains 12 exons. PARK2 copy number variants has been reported in various types of neurodevelopmental disorders, namely schizophrenia, Parkinson's disease (PD), autism spectrum disorder (ASD), and attention-deficit/hyperactivity disorder (ADHD). In this retrospective study, nine cases (five with microdeletion and four with microduplication) are reported with 6q26 deletion disrupting the PARK2 gene. Microdeletion sizes ranged between 215 Kb and 356 Kb, and duplication between 279 Kb and 726 Kb. These were present within the exons 7-10. Family follow up with FISH probes revealed paternal inheritance in two cases, maternal in two cases, and de novo origin in one case. Our results support previous studies showing that patients with PARK2 CNVs involving exons 5-12 might be more deleterious and cause a unique syndrome. Comprehensive analysis of additional case studies is needed to have a full characterization of this neurological disorder syndrome.

A 235 Kb deletion at 17q21.33 encompassing the COL1A1, and two additional secondary copy number variants in an infant with type I osteogenesis imperfecta: A rare case report.

BACKGROUND: Osteogenesis imperfecta (OI) is a rare group of disorders characterized by increased susceptibility to fractures due to genetically determined bone fragility. About 90% of cases are due to mutations in COL1A1 (17q21.33) or COL1A2 (7q21.3) resulting in quantitative or qualitative defects in type I collagen, a key structural constituent of bone. OI due to complete COL1A1 deletion is rare. METHODS: We present a case of OI type I in a Caucasian female referred at 10 months of age for investigation of multiple fractures associated with minimal or no known trauma, small stature, and blue sclera. Her father has four to five lifetime fractures, blue sclera, normal stature, and a 14.5 kilobase (kb) deletion of COL1A1 detected by targeted array performed at an outside institution. Microarray comparative genomic hybridization was performed on the proband and all members of the family. RESULTS: A previously unreported 235 kb deletion at 17q21.33 encompassing COL1A1, ITGA3, PDK2, SGCA, and HILS1 was detected in the proband. Also identified in both the proband and sibling is a maternally inherited 283 kb gain at 8p21.3 encompassing CSGALNACT1 and a 163 kb loss at 10q21.3 encompassing CTNNA3. Analysis in the father revealed the same size deletion at 17q21.33 as in the proband. CONCLUSION: Together with previously reported cases of COL1A1 deletions, this case report emphasizes the importance of a whole-genome DNA copy number assessment in patients suspected for OI, which will elucidate the presence of precise COL1A1 deletions and any pathogenic secondary copy number variations.

Direct spectral analysis and determination of high content of carcinogenic bromine in bread using UV pulsed laser induced breakdown spectroscopy.

Laser induced breakdown spectroscopy (LIBS) was applied for the detection of carcinogenic elements like bromine in four representative brands of loaf bread samples and the measured bromine concentrations were 352, 157, 451, and 311 ppm, using Br I (827.2 nm) atomic transition line as the finger print atomic transition. Our LIBS system is equipped with a pulsed laser of wavelength 266 nm with energy 25 mJ pulse(-1), 8 ns pulse duration, 20 Hz repetition rate, and a gated ICCD camera. The LIBS system was calibrated with the standards of known concentrations in the sample (bread) matrix and such plot is linear in 20-500 ppm range. The capability of our system in terms of limit of detection and relative accuracy with respect to the standard inductively coupled plasma mass spectrometry (ICPMS) technique was evaluated and these values were 5.09 ppm and 0.01-0.05, respectively, which ensures the applicability of our system for Br trace level detection, and LIBS results are in excellent agreement with that of ICPMS results.

Determination of carcinogenic fluorine in cigarettes using pulsed UV laser-induced breakdown spectroscopy.

A spectrometer based on pulsed UV laser-induced breakdown spectroscopy (LIBS) and a highly sensitive intensified charged coupled device camera was developed to determine the carcinogenic substances like fluorine in various brands of cigarettes available commercially. In order to achieve the high sensitivity required for the determination of trace amounts of fluoride in cigarettes and eventually the best limit of detection, the experimental parameters (influence of incident laser energy on LIBS signal intensity and time response of plasma emission) were optimized. In addition, the plasma parameters like electron temperature and electron density were evaluated using Boltzman's plot for cigarette tobacco for the first time. To the best of our knowledge, LIBS has never been applied to determine the fluorine concentration in cigarettes. Along with the detection of fluorine, other trace metals like Ba, Ca, Ni, Cu, and Na were also detected in cigarettes. For determination of the concentration of fluorine, calibration curve was drawn by preparing standard samples in various fluoride concentrations in tobacco matrix. The concentration of fluorine in different cigarette tobacco samples was 234, 317, 341, and 360 ppm respectively, which is considered to be much higher than the safe permissible limits. The limit of detection of our LIBS spectrometer was 14 ppm for fluorine.

Trisomy 4 as the sole karyotypic abnormality in a case of acute biphenotypic leukemia with T-lineage markers in minimally differentiated acute myelocytic leukemia.

We report an unusual case of acute biphenotypic leukemia with trisomy 4. A 22-year-old woman presented with acute leukemia characterized by the presence of two cell populations (prothymocytic and myeloblastic). The leukemic cells were resistant to standard induction chemotherapy and were cleared from the bone marrow only after a salvage chemotherapy regimen. To our knowledge, this is the fourth reported case of acute biphenotypic leukemia with trisomy 4 and perhaps the first case with T-lineage markers and acute myelocytic leukemia.