Pán Péter 2

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I\u2019m currently on tour with Icehouse Ventures having the BEST time talking alongside some kickass panelists to a bunch of sick budding entrepreneurs. I\u2019ve just done Auckland and Welly but there\u2019s still time to come to Christchurch or Dunedin (info below!!!)

The biggest news to come out of yesterday was certainly the hunt for a helicopter that went down with Iran\u2019s president, Ebrahim Raisi, on board. As I\u2019m writing this, the helicopter has just been found with the BBC reporting that there is \u201Cno sign of life.\u201D

Not sure if you\u2019ve been following this story, but Sean \\\"Diddy\\\" Combs has just apologised \u201Cfor attacking his ex-girlfriend Cassandra \\\"Cassie\\\" Ventura after CCTV footage showed him kicking and pushing her in a hotel hallway in 2016.\u201D

Cassie, whose legal name is Cassandra Ventura, sued Combs in November over what she said was years of sexual, physical and emotional abuse. The suit was settled the next day, with no admission of liability, but spurred intense scrutiny of Combs, with several more civil lawsuits filed in the following months, along with a federal criminal sex-trafficking investigation that led authorities to raid Combs\u2019 mansions in Los Angeles and Miami.

So many of us have grown up having everything available and accessible to us all the time - which is AMAZING for so many reasons, but there is a cost to free things - even if you can\u2019t see it.

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PterGalleryNamePterAffiliation and RelationshipsAffiliationSaur-LordsMarital StatusSinglePhysical CharacteristicsGenderMaleHairNo Hair At AllSkinGreenUnusual FeaturesPter is a semi-humanoid pterosaurOrigin and Living StatusOriginEvolved PterosaurusLiving StatusAliveRealityEarth-616Place of BirthSavage LandPersonal InformationIdentityNo DualCitizenshipSavage Land, New MenOccupationNew MenEducationTrained and Educated by the High TechnicianBase of OperationsSavage LandCreators and AppearancesCreatorsMark Gruenwald First Captain America #414

(February, 1993)

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Feature papers represent the most advanced research with significant potential for high impact in the field. A Feature Paper should be a substantial original Article that involves several techniques or approaches, provides an outlook for future research directions and describes possible research applications.

Abstract: To date only five patients with 8p23.2-pter microdeletions manifesting a mild-to-moderate cognitive impairment and/or developmental delay, dysmorphisms and neurobehavioral issues were reported. The smallest microdeletion described by Wu in 2010 suggested a critical region (CR) of 2.1 Mb including several genes, out of which FBXO25, DLGAP2, CLN8, ARHGEF10 and MYOM2 are the main candidates. Here we present seven additional patients with 8p23.2-pter microdeletions, ranging from 71.79 kb to 4.55 Mb. The review of five previously reported and nine Decipher patients confirmed the association of the CR with a variable clinical phenotype characterized by intellectual disability/developmental delay, including language and speech delay and/or motor impairment, behavioral anomalies, autism spectrum disorder, dysmorphisms, microcephaly, fingers/toes anomalies and epilepsy. Genotype analysis allowed to narrow down the 8p23.3 candidate region which includes only DLGAP2, CLN8 and ARHGEF10 genes, accounting for the main signs of the broad clinical phenotype associated to 8p23.2-pter microdeletions. This region is more restricted compared to the previously proposed CR. Overall, our data favor the hypothesis that DLGAP2 is the actual strongest candidate for neurodevelopmental/behavioral phenotypes. Additional patients will be necessary to validate the pathogenic role of DLGAP2 and better define how the two contiguous genes, ARHGEF10 and CLN8, might contribute to the clinical phenotype. Keywords: 8p23.2-pter microdeletion; 8p23.3; chromosomal microarray analysis (CMA); critical microdeletion region (CR); candidate region; small deletions; ARGHEF10; DLGAP2; developmental delay; behavior disorder

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The patient was a 5-year-old Chinese male, who wasthe first child of healthy, unrelated parents that had no personalor family history of DD/ID, congenital malformations or psychiatricdisorders. The patient was born at term via a natural delivery. Hisweight, length and head circumference at birth were 2.5 kg (

Using standard procedures, routine G-bandedkaryotyping was performed on cultured peripheral blood lymphocytesfrom the patient and his parents. A chromosome analysis wasperformed at the 400-band level in both the patient and his parentsaccording to the International System for Human CytogenomicNomenclature (ISCN) 2013 (50 metaphases each).

Genomic DNA was isolated from peripheral bloodlymphocytes with the QIAamp DNA Blood Mini kit (Qiagen, Inc.,Valencia, CA, USA) according to the manufacturer's instructions.The concentration of the extracted genomic DNA was determined usinga NanoDrop ND-1000 spectrophotometer (NanoDrop Technologies,Berlin, Germany). The DNA sample (250 ng) was hybridized toCytoScan HD arrays on an Affymetrix SNP array platform (Affymetrix;Thermo Fisher Scientific, Inc., Waltham, MA, USA) according to themanufacturer's protocol. The CytoScan HD array contains more than2.6 million markers for the copy number analysis. Of these markers,1,950,000 are unique, non-polymorphic oligonucleotide probes, and750,000 are SNP probes used for genotyping. The average markerspacing is one probe per 1.1 kb, with a mean spacing of one probeper 1.7 kb on non-gene backbones and one probe per 880 bp inintragenic regions. Using ChAS 3.0 software (Affymetrix; ThermoFisher Scientific, Inc.), aberrations were filtered up to a minimumsize of 100 kb, with at least 50 probe calls for deletions andduplications.

A metaphase FISH analysis was performed on thepatient and his parents using standard methods. Fluorescent probesspecific for the sub-telomere region of chromosome 8p and thecentromere of chromosome 8 (Cytocell, Inc., Cambridge, UK) wereused for the FISH analysis and were labelled with SpectrumOrangeand SpectrumGreen, respectively. FISH signals were observed usingan Olympus BX-51 microscope (Olympus Corp., Tokyo, Japan).

To date, only four patients with isolated deletionsinvolving the region from 8p23.2 to 8pter that were identifiedusing CMA have been reported in previous studies; all of themshared common clinical features. In addition, three patients wereincluded in DECIPHER harbored deletions from 8p23.2 to 8pter thatwere recognized as definitely or likely pathogenic (Table I). The locations, sizes and genescontained in the deleted region in these patients were comparedbased on the genetic map (Fig. 3).In addition, we also performed a phenotypic comparison between the8p23.2-pter deletion and 8p23.1 deletion (Table II).

However, common clinical features, including DD/ID,mildly dysmorphic features, microcephaly and neurobehavioraldisorders, are usually shared by patients with either an8p23.2-pter deletion or an 8p23.1 deletion (not only individualswith a large terminal 8p23.1 deletion but also in individuals withsmall interstitial 8p23.1 deletions) (Table II). Either an isolated 8p23.1deletion or an isolated 8p23.2-pter deletion seems to contribute tothese common clinical features, suggesting that the isolated8p23.2-pter region may harbour other CRs and candidate genesassociated with these features. The present study compared thephenotypic features between the present patient and four previouslyreported patients with isolated terminal deletions involving theregion from 8p23.2 to 8pter that were characterized by CMA(7,17,19).Of these five patients, the most common phenotypes included growthretardation (5/5), microcephaly (4/5) and mildly dysmorphicfeatures (4/5), followed by ID (3/5), language delay (3/5) andbehavioural problem (3/5, including ASD and ADHD). In the DECIPHERdatabase, three patients with isolated deletions involving the8p23.2 to 8pter region were classified as definitely or likelypathogenic and all of them presented with ID. Taken together,although the phenotypes listed in DECIPHER might be incomplete andlimited, ID was present in 6 out of the 8 patients with a deletioninvolving the region from 8p23.2 to 8pter reported in theliterature and DECIPHER. A terminal 2.1 Mb deletion of 8p23.3reported by Wu et al (19)was the smallest segment observed in the five patients from thepresent study and the literature. This deletion might be proposedas a CR for DD/ID, dysmorphic features and microcephaly (Fig. 2). The CR contains 5 OMIM genes,including FBXO25, DLGAP2, CLN8,ARHGEF10 and MYOM2. Most of these genes are known tobe expressed in the brain.

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