The X-linked dystonia-parkinsonism (XDP) is a severe, progressive, adult-onset, X-linked endemic disorder in Filipinos, which is characterized by dystonic movements that start in the third or fourth decade, and replaced by parkinsonism beyond the 10th year of illness. Understanding the pathophysiology of XDP and development of rational therapies will depend on observations from imaging, pathological, and genetic studies. In this paper we summarize the results of these studies on patients with XDP. The cranial magnetic resonance imaging shows hyperintense putaminal rim in both dystonic and parkinsonian stages, and atrophy of the caudate head or putamen in the parkinsonian stage. Neuropathological findings show atrophy of the caudate nucleus and putamen, with mild to severe neuronal loss and gliosis. In the neostriatum, the dystonic phase of XDP shows the involvement of striosomes and matrix sparing, while the later, i.e., parkinsonian phase, shows matrix involvement as well. In the dystonic phase, the loss of striosomal inhibitory projections lead to disinhibition of nigral dopaminergic neurons, perhaps resulting in a hyperkinetic state; while in the parkinsonian phase, severe and critical reduction of matrix-based projection may result in extranigral parkinsonism. Genetic sequencing of the XDP critical region in Xq13.1 has revealed an SVA retrotransposon insertion in an intron of TAF1. This may reduce neuron-specific expression of the TAF1 isoform in the caudate nucleus, and subsequently interfere with the transcription of many neuronal genes, including DRD2. Findings from imaging, pathology, and genetics studies are gradually shedding light on the pathophysiology of XDP, which hopefully will lead to more rational and directed therapies.

Background Chromogenic in situ hybridization (CISH) is emerging as a practical, cost-effective, and valid alternative to fluorescent in situ hybridization in testing for gene alteration, especially in centers primarily working with immunohistochemistry (IHC).

Background and Objectives. Sample pooling of COViD-19 PCR tests has been recently proposed as a low-cost alternative to individual tests. This multi-site, laboratory-based, proof-of-concept study explores the feasibility of pooled SARS-CoV-2 RT-qPCR testing, by demonstrating the effect of pooling on sensitivity, specificity, accuracy, number of tests saved, and turnaround time. Methodology. The research was conducted in two experiments. In Experiment 1, archival nasopharyngeal (NPS) and oropharyngeal (OPS) swab samples were diluted to simulate 5, 10, and 20 sized pools, and tested for SARS-CoV-2 RNA using RT-qPCR. In Experiment 2, actual nasopharyngeal and oropharyngeal swab samples were collected from asymptomatic low-risk volunteers. Aliquots of the samples were pooled following the 5, 10-5, and 20-10-5 multi-staged Dorfman pooling methods and tested. The sensitivity, specificity, accuracy, test savings, and turnaround time for each pooling method were documented. Results and Conclusions. The study provided evidence that pooling of NP and OP samples for SARS-CoV-2 RNA detection using RT-qPCR is feasible and can be implemented in the Philippines. A 2-stage Dorfman 5 pooling strategy appears to be the best method, because it has the highest over-all accuracy, while still achieving acceptable test savings, and turnaround time. Pooling of nasopharyngeal and oropharyngeal swab samples prior to RT-qPCR testing may be considered by select molecular diagnostic laboratories to further increase testing capacity and at the same time reduce the cost of testing.

A 6-year-old girl presented with disseminated polymorphous skin lesions of several months' duration, joint pains, recurrent fever, anemia, and inguinal adenopathy. Subsequent evaluation of skin, lymph node, and bone marrow morphology showed infiltration of atypical lymphocytic cells. Immunohistochemical and flow cytometric analysis showed findings consistent with the rare but highly malignant blastic Natural killer cell lymphoma/leukemia also termed CD4/CD56 hematodermic neoplasm.

Background. The availability of reverse transcription-polymerase chain reaction (RT-PCR) in detecting severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) is limited by the scarcity of resources prompting the use of pooling strategies. Evaluated in this study is the Philippine Children's Medical Center's (PCMC) experience in pooled testing done in asymptomatic population.Objectives. Review the pooled SARS-CoV-2 RT-PCR results and case investigation forms (CIF) in asymptomatic population. Determine the incidence of SARS-CoV-2 in asymptomatic population and compare all the individual and pooled tests results. Determine the number of saved test kits and identify clustering in the community.Methodology. This is a retrospective study that reviewed the pooled and individual SARS-CoV-2 RT-PCR results using Allsheng Auto-Pure 32a extraction kit, Sansure Biotech PCR machine and Maccura Sars-CoV-2 test kits. The pooling protocol used by the institution followed the recommendation by Lo et al., in the study entitled "An Evaluation of Pooling Strategies for RT-qPCR testing for SARS-CoV-2 infection."Results. There are 1828 samples which resulted to 165 negative, 68 indeterminate, and 137 positive pools. There are 157, 135, and 68 pools containing 5 individual samples that were classified as negative, positive and indeterminate pools, respectively. Additionally, the negative pools contained 8 pools with 3 individual samples and the positive pools contained 2 pools with 2 individual samples. Deconvolution of the positive and indeterminate pools resulted to 227 and 74 positive individuals, respectively. In this review, the laboratory saved 24% of the test kits and shorten the overall turnaround time by 23 hours. Conclusions and Recommendations.The incidence of SARS-CoV-2 in the population is higher compared to the prevalence of infection in the country. Pooled testing conserved test kits and congruence of pooled and individual ORF Ct-values was observed. An in-depth study including other genes is recommended and assessment of pooling in other population may be pursued.