Harnessing the Power of Mobile Phone Technology: Screening and Identifying Autism Spectrum Disorder With Smartphone Apps.

Integrating smartphone applications into screening and identifying autism spectrum disorder (ASD) represents a promising and innovative frontier within healthcare. This forward-looking paper examines the current landscape of ASD screening apps, shedding light on their potential advantages and addressing and navigating significant challenges. One of the most compelling aspects of these apps lies in their potential to democratize access to ASD screening, effectively breaking down geographical barriers.

A Novel Splice Site Mutation in in Patients With Primary Immunodeficiency Exhibiting Susceptibility to Mycobacterial Diseases.

Primary immunodeficiency (PID) refers to a group of heterogeneous genetic disorders with a weakened immune system. Mendelian susceptibility to mycobacterial disease (MSMD) is a subset of PID in which patients exhibit defects in intrinsic and innate immunity. It is a rare congenital disorder characterized by severe and recurrent infections caused by weakly virulent mycobacteria or other environmental mycobacteria.

Surgery, Octreotide, Temozolomide, Bevacizumab, Radiotherapy, and Pegvisomant Treatment of an AIP Mutation‒Positive Child.

Context: Inactivating germline mutations in the aryl hydrocarbon receptor interacting protein (AIP) gene are linked to pituitary adenoma predisposition. Here, we present the youngest known patient with AIP-related pituitary adenoma.

Case Description: The patient presented at the age of 4 years with pituitary apoplexy and left ptosis with severe visual loss following a 1-year history of abdominal pain, headaches, and rapid growth.

Family-Based Next-Generation Sequencing Study Identifies an Variant in an Infant with Primary Immunodeficiency.

Primary immunodeficiencies (PIDs) are a rare and heterogeneous group of inherited genetic disorders that are characterized by an absent or impaired immune system. In this report, we describe the use of next-generation sequencing to investigate a male infant with clinical and immunological manifestations suggestive of a PID. Whole-exome sequencing of the infant along with his parents revealed a novel nucleotide variant (cytosine to adenine substitution at nucleotide position 252) in the coding region of the interleukin 2 receptor subunit gamma () gene.

The criminogenic and psychological effects of police stops on adolescent black and Latino boys.

Proactive policing, the strategic targeting of people or places to prevent crimes, is a well-studied tactic that is ubiquitous in modern law enforcement. A 2017 National Academies of Sciences report reviewed existing literature, entrenched in deterrence theory, and found evidence that proactive policing strategies can reduce crime. The existing literature, however, does not explore what the short and long-term effects of police contact are for young people who are subjected to high rates of contact with law enforcement as a result of proactive policing.

Next-Generation Sequencing Reveals Novel Mutations in X-linked Intellectual Disability.

Robust diagnostics for many human genetic disorders are much needed in the pursuit of global personalized medicine. Next-generation sequencing now offers new promise for biomarker and diagnostic discovery, in developed as well as resource-limited countries. In this broader global health context, X-linked intellectual disability (XLID) is an inherited genetic disorder that is associated with a range of phenotypes impacting societies in both developed and developing countries.

After All I Have Done For You: Self-silencing Accommodations Fuel Women's Post-Rejection Hostility.

An experimental study tests if people's hostility after experiencing rejection is partly explained by the degree to which they had initially suppressed their own feelings and beliefs to please the source of rejection. This hypothesis emerges from the literatures on women's self-silencing and that on rejection-sensitivity, which has documented that rejection-sensitive women show strong responses to rejection, but are also likely to self-silence to please their partners. An online dating paradigm examined if this self-silencing drives post-rejection hostility among women.

A systematic analysis of small supernumerary marker chromosomes using array CGH exposes unexpected complexity.

Purpose: A small supernumerary marker chromosome is often seen in patients with developmental disorders. Prior to array-based comparative genomic hybridization markers were rarely genotyped end to end. In this study, a valid genotype-to-phenotype correlation was possible because the supernumerary marker chromosomes were fully characterized by array-based comparative genomic hybridization in a genome-wide analysis.

The conundrum of a jumping translocation (JT) in CVS from twins and review of JTs.

Jumping translocations (JTs) are rare constitutional or acquired rearrangements involving a donor and several receiver chromosomes. They may be inherited or de novo. JTs can be found as a cultural artifact, in normal individuals or in pathological conditions.

Paying to belong: when does rejection trigger ingratiation?

Societies and social scientists have long held the belief that exclusion induces ingratiation and conformity, an idea in contradiction to robust empirical evidence linking rejection with hostility and aggression. The classic literatures on ingratiation and conformity help resolve this contradiction by identifying circumstances under which rejection may trigger efforts to ingratiate. Jointly, findings from these literatures suggest that when people are given an opportunity to impress their rejecters, ingratiation is likely after rejection experiences that are harsh and that occur in important situations that threaten the individual's self-definition.

Cutaneous precursor B-cell lymphoblastic lymphoma in 2 adult patients: clinicopathologic and molecular cytogenetic studies with a review of the literature.

Background: Precursor B-cell lymphoblastic lymphoma (B-LBL) is an uncommon high-grade neoplasm of immature B cells. In contrast to the more common lymphoblastic lymphoma of T-cell lineage, B-LBL can be an extranodal disease, with a propensity to involve skin and bone. Most reported cases of B-LBL in the skin, a rarity in adults, are manifestations of existing systemic disease.

Assessment of 1p/19q deletions by fluorescence in situ hybridization in gliomas.

This study assessed the efficacy of FISH for detecting 1p/19q deletion in gliomas on 77 paraffin-embedded tissue samples, of which 42 cases (55%) were positive for 1p/19q codeletion; 7 of the 42 had a previous history of glioma. In one case, analysis failed. The remaining 34 cases were negative; of these, three had a previous history of glioma and one had the reverse 1q/19p deletion.

Contemplations on preclinical validation of fluorescence in situ hybridization probe assay for paraffin-embedded tissues in hematologic disorders.

A validation of fluorescence in situ hybridization (FISH) assays for paraffin-embedded tissues (PET) is required before clinical use. Although the FISH probe validation process for hematologic disorders has been described during recent years, none of these descriptions, to our knowledge, address the validation process for paraffin-embedded tissues in detail. We describe an applicable preclinical validation process.

Blastic mantle cell lymphoma with a Burkitt translocation.

MYC gene rearrangements are observed as a genetic change in the blastoid variant of mantle cell lymphoma (MCL). We present two patients, one had 30% atypical lymphocytes with Burkitt-like morphology in the peripheral blood and the other had 30% blasts in the bone marrow. Both had a CCND1/IGH and an MYC rearrangement by cytogenetics and FISH.

Burkitt t(8;14)(q24;q32) and cryptic deletion in a CLL patient: report of a case and review of literature.

A 53-year-old man diagnosed with chronic lymphocytic leukemia (CLL)-small lymphoma following splenectomy was found to have a t(8;14) with an apparent cryptic deletion of the MYC gene. This patient's spleen and bone marrow (BM) showed that 93% and approximately 70% of the viable cells, respectively, were lambda-monoclonal B-cells coexpressing CD5 with CD20, CD19, CD23, CD22, CD38, and low FMC-7. The smear showed a marked increase in small, mature lymphoid cells, with <2% prolymphocytes.

Translocation (X;20)(q13;q13.3): a nonrandom abnormality in four patients with myeloid disorders.

A recurring translocation (X;20)(q13;q13) was found in four women ranging in age from 57 to 77 years. They had myelodysplasia, myelodysplasia with thrombocytopenia and pancytopenia, transforming to myelofibrosis, and myelodysplasia with sideroblastic anemia, respectively. The t(X;20) was the sole abnormality in three cases; one case also had a der(1;7)(q10;p10).

Cytogenetic abnormalities and fragile-X syndrome in Autism Spectrum Disorder.

Background: Autism is a behavioral disorder with impaired social interaction, communication, and repetitive and stereotypic behaviors. About 5-10 % of individuals with autism have 'secondary' autism in which an environmental agent, chromosome abnormality, or single gene disorder can be identified. Ninety percent have idiopathic autism and a major gene has not yet been identified.

SKY assessment of two karyotypes with 0-6 supernumerary marker/ring chromosomes and review of previously reported cases with two or more markers.

A 7-month-old boy with developmental delay and congenital abnormalities and a 58-year-old man with mental retardation, impaired speech, and dysmorphic features were referred for cytogenetic studies. The peripheral blood chromosome studies of Patient 1 had a de novo mosaic karyotype with 2-6 supernumerary marker chromosomes. Patient 2 had a mosaic karyotype with 1-5 supernumerary marker chromosomes and normal cells.

Submicroscopic terminal deletion of 1p36.3 and Xp23 hidden in complex chromosome rearrangements: independent mechanism of telomere restitution on the two chromatids.

In this study, we report two cases each with a complex chromosome rearrangement concealing a submicroscopic terminal deletion. The first case had a mos 46,XX,der(1)t(1;9)(p36.3;p13).