#HSCR

[gayratgrave]

[baliportalnews]

Penyakit Hirschsprung Sering Ditemukan Pada Bayi Baru Lahir

BALIPORTALNEWS.COM, YOGYAKARTA - Hirschsprung (HSCR) merupakan penyakit kongenital (bawaan) yang menjadi salah satu penyumbang signifikan angka kematian bayi baru lahir dan anak berusia di bawah lima tahun. HSCR ini menyebabkan gangguan buang air besar pada bayi. Salah satu gejala yang biasa ditemukan pada bayi dengan HSCR antara lain tidak bisa buang air besar dalam waktu 24-48 jam setelah lahir. Sementara pada balita gejala yang muncul antara lain sembelit menahun, perut menggembung, serta terdapat gangguan pada pertumbuhan. “Hirschsprung ini paling sering ditemukan pada bayi baru lahir dengan insidensi global diperkirakan 1:5.000 kelahiran hidup dan lebih sering ditemukan pad alaki-laki. Namun, menariknya insidensi Hirschsprung di Indonesia lebih tinggi di banding populasi lain yaitu 1:3.250 kelahiran hidup,” papar Prof. dr. Gunadi, Ph.D., Sp.BA., Subsp.D.A.(K)., saat menyampaikan pidato pengukuhannya dalam jabatan Guru Besar Bidang Bedah Anak Fakultas Kedokteran, Kesehatan Masyarakat, dan Keperawatan, Kamis (14/9/2023) di Balai Senat UGM. Gunadi memperkirakan kondisi tersebut terjadi berhubungan dengan frekuensi common variants RET rs2435357 dan rs2506030 pada populasi kontrol di Indonesia yang lebih tinggi dibandingkan populasi lain. Dari penelitian yang dilakukannya diketahui sebagian besar penderita HSCR di Indonesia masuk dalam klasifikasi short segment dimana segmen aganglion tidak melebihi kolon sigmoid (80%). Lalu dari data di Yogyakarta menunjukkan frekuensi HSCR yang disertai dengan sindrom down sebesar 12 persen dan hanya dijumpai satu kasus familial dari 67 kasus. Lebih lanjut Gunadi menjelaskan bahwa HSCR merupakan penyakit genetik. Sejumlah bukti menunjukkan hal tersebut, salah satunya angka kesintasan pasien HSCR menjadi lebih tinggi setelah ditemukan teknik pull through tahun 1984 sehingga tercipta kondisi untuk menemukan adanya transmisi HSCR familial. Tak hanya itu, bukti lain mencatat adanya peningkatan risiko pada saudara pasien untuk menderita HSCR dibandingkan populasi umum. Lalu, adanya rasio HSCR yang tidak seimbang antara laki-laki dan perempuan serta adanya hubungan  HSCR dengan penyakit genetik lain seperti sindrom malformasi atau anomali kromosom. Konsep kompleksitas genetik pada HSCR disebutkan pria kelahiran Banyuwangi, 19 November 1979 ini bisa dipahami dengan mempelajari kejadian molekuler dan seluler selama perkembangan enteric nervous system (ENS) saat embriogenesis. Setidaknya hingga saat ini ada 35 gen yang berhubungan dengan patogensis HSCR. “HSCR merupakan penyakit genetik kompleks yang bisa menimbulkan komplikasi Hirschsprung associated enterocolitis (HAEC) yang bersifat fatal. Dengan data stratifikasi risiko berbasis genomik, kedokteran presisi sebagai manajemen HSCR bisa terwujud. Dengan begitu, kesadaran orang tua pasien terhadap risiko HSCR menjadi lebih baik, HSCR pun bisa didiganosis dan terapi lebih awal, serta terhindar dari komplikasi fatal,” urainya.(ugm.ac.id//bpn) Read the full article

[ca-dmv-bot]

Customer: CHEVROLET G-SERIES VAN REFERS TO THE MODEL OF THE VAN DMV: g=gangster, has GMC HSCR on ani Verdict: DENIED

[hscdthesiblingsdonorexperience]

Introduction

Hematopoietic Stem Cell Transplants (HSCT) are the second most frequently therapy to treat hematologic and oncologic diseases. Due to the lack of donors and the lifespan of some patients, families who are desperate to keep their relatives alive often ask to be tested to see if they are compatible to donate.

Siblings are most likely to be compatible, which are called Matched related donors (MRD). From being tested, donating, and post-donation sibling donors are often left in the shadows in both the literature and in their own families.

Hematopoietic stem cell research (HSCR) is fairly new and a lot of research is done on the recipient of the transplant but the  “risk for donors of allogeneic hematopoietic stem cell transplants is generally considered negligible” (Halter). Although the risk is considered negligible it is important to know the risks for both the recipient as much as the recipient.

The donor experience seems to be not as a big deal as the recipient (sick sibling), on paper but after reading this blog hopefully, you can agree it is just as important. I chose this topic because I personally went through this experience for one of my family members. I wanted to explore what research has been done and if anything has been done to improve this matter.

In this blog, we will explore the effects this has on the donor during HLA testing, donating, and post-donation, as well as how this affects the families and how we can help improve the care for donors.

[boredfaneliza]

ANYWAYS THAT LITTLE GIRL IS MY OC. HER NAME IS HOSHIKO AND SHE'S A DAUGHTER OF HSCR

WOOOOOO

i will make a hc post of these two characters

i have names for them but i want to hear you guys first so adfhhkl

and that little girl is a space enthusiast you're welcome

[olplus]

Gérard Houllier enrage contre la France (Mirror via Foot Mercato : https://olplus.fr/HSCrs)

[ask-beacons-finest]

Lol dgar post that posted my morning self is gonna hscr yo deal with that'sol lol fucj you morning alcie

Admsun

[kingynamue]

BAE CREATES THE MOST STUNNING EDITS, NO ONE CAN CHANGE MY MIND ,💖

; [ taehyung lockscreen + homescreen edit ]

+ pls like or reblog if saved or if you liked it ♡

[gerrywainwrightmotorsport]

View this post on Instagram

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Mega race in the A40 today until I went from hero to zero on the last lap. Was running P6 over all in the little weapon / \ / \ #hscc #historicracing #austina40 #a40 #bmc #historictouringcars #htc #hscr #donington #doningtonpark (at Donington Park)

[regen-med-outreach]

Regenerative medicine therapies for the treatment of Hirschsprung’s disease -Lydia Beeken

Hirschsprung’s disease (HSCR) is a birth defect, where ganglionic cells (neurons) are absent from parts of the bowel. These are termed aganglionic regions, and result in obstruction to feacal excretion, behaving as a major risk factor for potentially lethal complications. 

Source: https://aderonkebamidele.com/hirschsprungs-disease-symptoms-treatment/

Currently, the only available treatment for HSCR is surgery, however outcomes are poor, with up to 75% of patients suffering from constipation or incontinence, and 10% who require a permanent colostomy. Thus, scientists are investigating regenerative medicine strategies as an alternative therapy. 

Originally it was believed the cells which differentiate into neural cells, termed enteric nervous system progenitor cells (ENSPCs), were only found in ganglionic bowel sections. These could be isolated and cultured in vitro to form neurospheres; organoid-like bodies containing neural cells. When transplanted into an aganglionic section of bowel in a mouse model of HSCR, normal gut contractility patterns were restored, demonstrating the potential of ganglionic-derived neurosphere transplantation as an alternative therapy. 

Interestingly, ENSPCs have also recently been isolated from aganglionic bowel of HSCR patients, and have the capacity to generate neurospheres in vitro. This finding is exciting because it presents the possibility that it may be possible to stimulate the ENSPCs in situ to form neurons in the aganglionic bowel.

Regenerative medicine may hold the key to a superior treatment for HSCR, however there is still a lot of work to be done for successful translation to the clinic.

[wintinfinity]

Cufflinks hidata

The major developmental event in completion of early gut development is the migration of neural crest cells (NCCs) into the gut, and their differentiation into enteric neuroblasts (enteric neural crest cells ) and, subsequently, enteric neurons and glia. Signaling between these 2 layers is critical for the differentiation and apoptosis of both epithelial and mesenchymal cells, and their subsequent homeostasis. The ontogeny of the gut involves cells that arise stepwise from multiple regimens of differentiation, being dependent on region-specific interactions between the endoderm-derived epithelium and the mesoderm-derived mesenchyme. The mammalian gastrointestinal tract develops from a tube to an organ comprising at least 6 well-characterized cell and tissue types (epithelial, smooth muscle, vascular, neuron, glia, and extracellular matrix) that provide its major barrier function and its integrated physiology involving absorption, secretion, and motility ( 5). The genetic programs identified, and their changes across development, suggest that both cell autonomous and nonautonomous factors, and interactions between the different developing gut tissues, are important for normal ENS development and its disorders. These data reveal 4 major features: 1) between E10.5 and E14.5 the developmental genetic programs change from expression of major transcription factors and its modifiers to genes controlling tissue (epithelium, muscle, endothelium) specialization 2) the major effect of Ret is not only on ENCC differentiation to enteric neurons but also on the enteric mesenchyme and epithelium 3) a muscle genetic program exerts significant effects on ENS development and 4) sex differences in gut development profiles are minor. We also generated these profiles from homozygous Ret null embryos, a model for Hirschsprung disease (HSCR), in which the ENS is absent. To understand the molecular processes underpinning gut and ENS development, we generated RNA-sequencing profiles from wild-type mouse guts at E10.5, E12.5, and E14.5 from both sexes. During this process, one major event is innervation of the gut by enteric neural crest cells (ENCCs) to establish the enteric nervous system (ENS). The development of the gut from endodermal tissue to an organ with multiple distinct structures and functions occurs over a prolonged time during embryonic days E10.5–E14.5 in the mouse.

[leedsomics]

Unbaised intestinal single cell transcriptomics reveals previously uncharacterized enteric nervous system populations in larval zebrafish

The enteric nervous system (ENS) regulates many gastrointestinal functions including peristalsis, immune regulation and uptake of nutrients. Defects in the ENS can lead to severe enteric neuropathies such as Hirschsprung disease (HSCR), which is caused by defective ENS development. Zebrafish have proven to be fruitful in the identification of novel genes involved in ENS development and HSCR pathology. However, the composition and specification of enteric neurons and glial subtypes of the larval zebrafish at a single cell level, remains mainly unexplored. Here, we performed single cell RNA sequencing of zebrafish ENS at 5 days post-fertilization. We identified both vagal neural crest progenitors and Schwann cell precursors, as well as four clusters of early differentiated neurons. Interestingly, since we took an unbiased approach where we sequenced total intestines, an elavl3+/phox2bb- population of neurons and the presence of cx43+/phox2bb- enteric glia were identified in larval zebrafish. These populations have not been described before. Pseudotime analysis supported binary neurogenic branching of ENS differentiation, which happens via a notch-responsive state. Together, our data revealed previously unrecognized ENS populations and serve as a resource to gain new insights on ENS development and specification, proving that the zebrafish is a valuable model organism in the quest towards understanding and treating congenital enteric neuropathies. http://dlvr.it/SWVdlk

[alwaysawesomesblog]

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[smiling-face-withface]

HSCR

[downplaystore]

HyperX Cloud Revolver S Gaming Headset with Dolby 7.1 Surround Sound - Steel Frame - Signature Memory Foam, Premium Leatherette, for PC, PS4, PS4 PRO, Xbox One, Xbox One S (HX-HSCRS-GM/NA) (Renewed)