#Fetus 2008

[phoenix]

Y'know...I like liveblogging the occasional trashy movie, because I see weird shit, and I need to share it to reassure myself it is real, or make others suffer, or to show them what weird shit they can only imagine exists.

I am currently seeing shit that is so messed up I can't even begin to describe it or inflict it on others.

[repostianagrande]

october 5 2008; ariana grande stars on broadway as charlotte, a popular cheerleader who is very gullible but also very caring, in the '13: the musical' official opening at the bernard b. jacobs theatre. she stars alongside liz gillies, graham phillips, allie trimm and aaron simon gross.

[warmglowofsurvival]

[communistkenobi]

Would you be willing to dunk on speak more on mainstream feminist theory you're reading? And/or share some of the non-juvenile feminist theory you've read?

(Note: I will try to link to open access versions of articles as much as possible, but some of them are paywalled. if the links dont work just type the titles into google and add pdf at the end, i found them all that way)

If there’s any one singular issue with mainstream feminist thought that can be generalized to "The Problem With Mainstream Feminism" (and by mainstream I mean white, cishet, bourgeois feminism, the “canonical feminism” that is taught in western universities) it’s that gender is treated as something that can stand by itself, by which I mean, “gender” is a complete unit of analysis from which to understand social inequality. You can “add” race, class, ability, national origin, religion, sexuality, and so on to your analysis (each likewise treated as full, discrete categories of the social world), but that gender itself provides a comprehensive (or at the very least “good enough”) view of a given social problem. (RW Connell, who wrote the canonical text Masculinities (1995) and is one of the feminist scholars who coined/popularized the term hegemonic masculinity, is a fantastic example of this.)

Black feminists have for many decades pointed out how fucking ridiculous this is, especially vis a vis race and class, because Black women do not experience misogyny and racism as two discrete forms of oppression in their lives, they are inextricably linked. The separation of gender and race is not merely an analytical error on the part of white feminists - it is a continuation of the long white supremacist tradition of bounding gender in exclusively white terms. Patricia Hill Collins in Black Feminist Thought (2000) engages with this via a speech by Sojourner Truth, the most famous line from her speech being “ain’t I a woman?” as she describes all the aspects of womanhood she experiences but is still denied the position of woman by white women because she is Black. Lugones in Coloniality of Gender (2008) likewise brings up the example of segregationist movements in the USAmerican South, where towns would put up banners saying things like “Protect Southern Women” as a rationale for segregation, making it very clear who they viewed as women. Sylvia Wynter in 1492: A New World View likewise points out that colonized women and men were treated like cattle by Spanish colonizers in South America, often counted in population measures as "heads of Indian men and women," as in heads of cattle. They were treated as colonial resources, not as gendered subjects capable of rational thought.

To treat the category of “woman” as something that stands by itself is a white supremacist understanding of gender, because “woman” always just means white woman - the fact that white is left implied is part of white supremacy, because who is granted subjecthood, the ability to be seen as human and therefore a gendered subject, is a function of race (see Quijano, 2000). Crenshaw (1991) operationalizes this through the term intersectionality, pointing out that law treats gender and race as separate social sites of discrimination, and the practical effect of this is that Black women have limited/no legal recourse when they face discrimination because they experience it as misogynoir, as the multiplicative effect of their position as Black women, not as sexism on the one hand and racism on the other.

Transfeminist theory has further problematized the category of gender by pointing out that "woman" always just means cis woman (and more often than not also means heterosexual woman). The most famous of these critiques comes from Judith Butler - I’m less familiar with their work, but there is a great example in the beginning of Bodies That Matter (1993) where they demonstrate that personhood itself is a gendered social position. They ask (and I’m paraphrasing) “when does a fetus stop becoming an ‘it’? When its gender is declared by a doctor or nurse via ultrasound.” Sex assignment is not merely a social practice of patriarchal division, it is the medium through which the human subject is created (and recall that gender is fundamentally racialized & race is fundamentally gendered, which I will come back to).

And the work of transfeminists demonstrate this by showing transgender people are treated as non-human, non-citizens. Heath Fogg Davis in Sex-Classification Policies as Transgender Discrimination (2014) recounts the story of an African American transgender woman in Pennsylvania being denied use of public transit, because her bus pass had an F gender marker on it (as all buss passes in the state required gender markers until 2013) and the bus driver refused her service because she “didn’t look like a woman.” She was denied access to transit again when she got her marker changed to M, as she “didn’t look like a man.” Transgender people are thus denied access to basic public services by being constructed as “administratively impossible” - gender markers are a component of citizenship because they appear on all citizenship documents, as well as a variety of civil and public documents (such as a bus pass). Gender markers, even when changed by trans people (an arduous, difficult process in most places on earth, if not outright impossible), are seen as fraudulent & used as a basis to deny us citizenship rights. Toby Beauchamp in Going Stealth: Transgender Politics & US Surveillance Practices (2019) talks about anti-trans bathroom bills as a form of citizenship denial to trans people - anti-trans bathroom laws are impossible to actually enforce because nobody is doing genital inspections of everyone who enters bathrooms (and genitals are not proof of transgenderism!), but that’s actually not the point. The point of these bills is to embolden members of the cissexual public to deputize themselves on behalf of the state to police access to public space, directing their cissexual gaze towards anyone who “looks transgender.” Beauchamp points out that transvestigators don’t need to be accurate most of the time, because again, the point is terrorizing transgender people out of public life. He connects this with racial segregation, and argues that we shouldn’t view gender segregation as “a new form of” racial segregation (this is a duplication of white supremacist feminism) but a continuation of it, because public access is a citizenship right and citizenship is fundamentally racially mediated (see Glenn's (2002) Unequal Freedom)

Susan Stryker & Nikki Sullivan further drives this home in The King’s Member, The Queen’s Body, where they explain the history of the crime of mayhem. Originating in feudal Europe (I don’t remember off the dome the exact time/place so forgive the generalization lol), mayhem is the crime of self-mutilation for the purposes of avoiding military conscription, but what is interesting is that its not actually legally treated as “self” mutilation, but a mutilation of the state and its capacity to exercise its own power. They link the concept of mayhem to the contemporary hysteria around transgender people receiving bottom surgery - we are not in fact self mutilating, we are mutilating the state’s ability to reproduce its own population by permanently destroying (in the eyes of the cissexual public) our capacity to form the foundational social unit of the nuclear family. Our bodies are not our own, they are a component of the state. Situating this in the context of reproductive rights makes this even clearer. Abortion access is not actually about the individual, it is the state mediating its own reproductive capacity via the restriction of abortion (premised on the cissexual logic of binary reproductive capacity systematized through sex assignment). Returning to Hill Collins, she points out that in the US, white cis women are restricted access to abortion while Black and Indigenous cis women are routinely forcibly sterilized, their children aborted, and pumped with birth control by the state. This is not a contradiction or point of “hypocrisy” on the part of conservatives, this is a fully comprehensive plan of white supremacist population management.

To treat "gender" as its own category, as much of mainstream feminism does (see Acker (1990) and England (2010) for two hilarious examples of this, both widely cited feminists), is to forward a white supremacist notion of gender. That white supremacy is fundamentally cissexual and heterosexual is not an accident - it is a central organizing logic that allows for the systematization of the fear of declining white birthrates (the conspiracy of "white genocide" is illegible without the base belief that there are two kinds of bodies, one that gets pregnant and one that does the impregnating, and that these two types of bodies are universal sources of evidence of the superiority of men over women - and im using those terms in the most loaded possible sense).

I realize that most of these readings are US centric, which is an unfortunate limitation of my own education. I have been really trying to branch into literature outside the Global North, but doctoral degree constraints + time constraints + my own research requires continual engagement with it. I also realize that most of the transfeminist readings I've cited are by white scholars! This is a continual systemic problem in academic literature and I'm not exempt from it, even as I sit here and lay out the problem. Which is to say, this is nowhere near the final word on this subject, and having to devote so much time to reading mainstream feminist theory as someone who is in western academia is part of my own limited education + perspective on this topic

[rebirthgarments]

TW: Chemical w-rfare, Ab-rtion

Urgent Ask to evacuate Nara, a 🍉 disabled woman with MS who also has pancreatic cancer due to chemical w-rfare.

Support by financially contributing to her @FedUp4Palestine vetted funhnd-raizer (that I personally vetted): givebutter.com/NaraMedicalAid

+ resharing/ reposting this post!

I, Sky Cubacub- a Fed up 4 Palestine team member, have been in direct contact with Nara to get to know her and her story more over the past few days. We have become fast friends due to so many overlapping symptoms of our disabilities. Nara’s story caught my eye because I have post-viral ME/CFS which many times is a precursor to MS. I really want my disability community to show up for her to get this campaign funded that is so close to my heart so that she can continue medical treatment.

We have chatted extensively! During our chats, I found out from Nara that she had not previously had health issues until she was exposed in the white phosphorus attack in 2008. The long lasting damage and effects of phosphorus continue to compound and become more and more disabling to this day, even after 16 years.

Here is her story in her own words (edited for clarity):

“Hi I'm Nara,

I'm a cancer and multiple sclerosis patient. I need treatment, examinations, and follow-up on a regular basis, but the hospitals in which I used to follow up were bombed and the other one was turned into military barracks. All I need now is to leave Gaza for treatment, preserve my life, and live with my family in peace.

We're a family of 4, including my 12 and 7 year old children.

I had been diagnosed with a tumor in the pancreas as a result of inhaling phosphorus in a previous war. A couple years after being exposed to phosphorus, I became pregnant, and the fetus was pressing on the tumor, which drew the doctor’s attention to the cancer. My fetus was emergency aborted, and the spleen, 80% of the pancreas, and part of the small intestine were removed. I complained every now and then of a lot of pain as a result of the removal of part of the pancreas. I was having follow up care in the Turkish Friendship Hospital for hematology and tumors. But since the beginning of October, I have not been able to follow up because the hospital has turned into a military barracks.

The remaining part is talking about multiple sclerosis:

In 2018, I was diagnosed with multiple sclerosis. I had many complications, such as inflammation of the seventh nerve in the eye, the inability to walk with balance, movement with difficulty, and many symptoms. I was then required to take 12 injections every month and many medications and vitamins. I was following up at the Nasser Medical Complex in Khan Yunis, but unfortunately the hospital was out of service due to the war. So for a long time I have not received any injections. MS is truly difficult and it controls my life completely, and the attacks occur in many and varied ways.”

A note about her breathing apparatus:

Because people in displacement have to wait in long queues and pay to use the bathroom, Nara had started to restrict her water intake because of a UTI she never has been able to heal from. This has created a problem with raised levels of potassium, so doctors have placed her on oxygen for fear of the potassium affecting her heart.

Goals

she needs at least $15,000 to evacuate

2 adults at $5,000 each

2 children at $2,500 each

this price is subject to increase due to the cost of registration for evacuation continuing to go up

The other money will go to the cost of treatment and living costs.

Nara chooses to stay anonymous because she has had to mask her disabilities so much that only her family knows about her MS and Cancer, so we have not linked her instagram, but we are in direct contact with her and can verify that she is who she says she is! Because of this, she cannot promote her own fundraiser, so it is our job to collectively do it for her!

[Image Description: a digital illustration by @k8deciccio of Nara, a Pal-eh-stienian woman wearing a black hijab/outfit with purple highlights. She has a breathing apparatus that is bulbous that goes in her nose. Text Reads: Help Narawith Cancer and MS Treatment, She Must Evacuate with her family of 4. $30k goal givebutter.com/NaraMedicalAid . There is a QR code in the bottom right corner that goes to her support link. The @FedUp4Palestine logo is in the top left corner.]

[anamelessfool]

Scenes from the Void AU Ages and Timelines Masterpost

Note, this is my AU. Ages and years are different. Also they're Americans. Why? Rule of cool, bro🤘

Primo

b. 1953 New York City d. 2001 Ministry HQ

Irving Robert Olson Parents: Nance and Nihil

Left the Church in 1960 with Nance, returned after her death in 1972.

Bodyguard for Mater Emeritus Jocasta 1972-1979, Groundskeeper/Super for Ministry HQ until elevation

Papa Emeritus: 1994-2000, died from exhaustion caused from the Papa Emeritus Curse

Secondo

b. 1961 Ministry HQ

Michael Aulenbach changed to Michael Leider in 2008 Parents: Rebecca and Nihil

Rebecca passed over for a promotion to Mother Imperator due to her surprise pregnancy (the magic ritual would kill the fetus)

Child prodigy pianist. Tours eastern United States as "Modern Mozart" from the ages of 6 to 10. Piano teacher to this day.

Magician of the Church 1977-2008. Head of the Conclave of Magicians 1990-1999. Papa Emeritus II 2001-2008.

Married Sandra Leider in 2006. Three children Paul (2004), Eden (2010) and Samuel (2013). Left the church in 2008 to help Sandra's family run the Leider Memorial Home. Funeral Director.

Terzo

b. 1965 Milan Ministry location d. March 2018 Ministry HQ

Arsenio Moretti Parents: Nihil and a Catholic novitiate only known as "Maria"

Fathered during Nihil's first major tour of Italy. Mother died and so he was returned to Nihil in the US in 1969.

1984 Last seen at Bishop Camino's funeral in NYC. Missing for two years, returned to Ministry in 1986 and never speaks about it to anyone (except Omega eventually) Now has photography and filmmaking skills.

Director of promotional materials, films Primo's tours 1994-2000. Elevated to Cardinal in 1998. Choir Director until his elevation to Papa Elect in 2004.

Summons Omega in 2005.

Papa Emeritus III 2008-2017. Forcibly removed from office 2017 for [REASONS REDACTED].

First Papa Emeritus formally executed by the Church in 300 years for the crimes of [REDACTED]. (you will have to read hehehe)

Copia

b. 1976???? Unknown

Copia is his real name. Unknown origin. Unknown parents, although raised as prev characters' youngest brother.

Found by Primo in mysterious circumstances in 1979. Parental figure found murdered. (My fic Violence and Gentleness focuses on this mystery)

Raised primarily by Primo. Homeschooled by Rebecca until 13. Secondo is his piano teacher.

He had a very strong bond with both Primo and Secundo and considers them father figures. Primo taught him how to be a moral person and Secondo taught him how to be an intelligent person. Secondo started teaching him piano at the age of five and by fifteen he was learning on the organ.He had an interest in math and science and pursued that at the academic level. He was the first of the family to actually go to a college outside of the Ministry. He graduated top of his class as a CPA in 1997, and immediately began working under the Head Treasurer. He was head treasurer for the Ministry from 2005-2017.

Met Cardinal Marian in 2006 was in a relationship with her until 2017, then back again in 2019.

Elevation to Cardinal 2010. Elevation to Papa Elect 2012. Finally Papa Emeritus upon Nihil's death in 2019.

Nihil

b. 1930 Milwaukee, WI d. 2019 onstage Mexico City

Robert Irving Olson Parents: Betty and Irving

Father gambler and alcoholic. Mother church organist. Church choir and guitarist. Older brother Archie lost at sea in 1946 (WWII Navy). Forced to drop out of school and work to support family in machine shop. Ran away from home in 1947. Rode the rails with the nickname "Zero". Picked up by the Satanic Church of the Void in NYC 1950. Multi-instrumentalist in Bishop Camino's house band until 1958. Odd jobs all throughout his life from taxicab driver, singing telegram, model, busker, roadie, trucker, etc.

Transferred to Ministry HQ thru Bishop Camino's recommendation. Brought Nance and Primo with him. Affair with Rebecca led to Secondo's birth and Nance leaving the church altogether. Elevated to Papa Emeritus 1963. First American Papa since Papa Camino in 1940s. Sister Imperator 's first Construct (after she underwent her magical rite she bestowed on him the Curse to make him Papa). Toured Italy and Europe 1964-1965. Secret bastard child Terzo discovered in 1969.

Got his ghouls terminally addicted to slot machines in 1972, foisted from position for that mistake. Protegee Jocasta took over until 1979.

Personal Assistant to Sister Imperator 1972-1984. Leader of the College of Cardinals 1986-2017. Return to Papa Emeritus 2017-2019.

[iirulancorrino]

In 2008, a physician named Susan Wicklund published a memoir about her career as an abortion provider, which had involved travelling to clinics across the Midwest, from St. Paul to Fargo. She eventually settled in Montana, and began working at Planned Parenthood facilities in Billings, Helena, and Kalispell. Some patients in rural areas, she discovered, had to drive several hundred miles to attend their appointments. Wicklund decided that a clinic should be opened in Livingston—a small town in southwestern Montana, not far from where she was living. She told me that when she proposed this idea at a meeting, Stacy Cross, then the C.E.O. of Planned Parenthood of Montana, reacted coldly, informing her that it was not in Planned Parenthood’s financial interest to take such a step. Wicklund responded by saying that she would open a clinic in Livingston on her own. According to Wicklund, Cross said that she would “do everything possible to shut me down, because I was taking patients away from Planned Parenthood.” (Cross, who now presides over a Planned Parenthood affiliate headquartered in California, said, “The assertion that we would try to shut her down is patently false.”) Deborah Erdman, a doctor and a Planned Parenthood donor who attended the meeting, told Cross that she would never give the organization another dime. “She was so angry,” Wicklund recalled. (Erdman died recently, but a close friend of hers confirmed this account.)

In Wicklund’s memoir, she writes of working at a clinic in Minnesota and trying to help an indigent woman who spoke no English and did not know how far along her pregnancy was. Wicklund wanted to perform an ultrasound, which would pinpoint how advanced the fetus was, but another staffer stopped her, because the woman couldn’t pay the fee. Wicklund slammed the door and went ahead with a pelvic exam instead, which she conducted for free. The next Monday, an administrator informed her that her contract had been terminated, “effective immediately.” Although Wicklund doesn’t say so in the book, it was a Planned Parenthood clinic. “I never turned a patient away,” she said.

Wicklund opened a clinic in Livingston in 2009. Some of her patients there told her that they’d first gone to Planned Parenthood but were unable to get care because they couldn’t afford it. This happened often enough that Wicklund began keeping a file of such cases. “Was given a hard time by Billings PP,” she wrote about a nineteen-year-old patient who said she’d been asked, “Do you think you should get free abortion?” Another patient told Wicklund that she’d heard about the Livingston clinic from Planned Parenthood because she “couldn’t afford $1,000.”

In 2013, Wicklund, facing significant health complications, was forced to close the Livingston clinic. Not long afterward, local activists created the Susan Wicklund Fund—a nonprofit that helps poor Montanans access abortion care—in her honor. In recent years, she has received fund-raising letters from Planned Parenthood featuring the “Care. No matter what” slogan. The first time she saw this, she told me, “I just came unglued—I was so livid.” She went on, “When I was a very young woman and would go to Planned Parenthood, it was a feminist organization. At some point, it changed into a business.”

— “The Problem with Planned Parenthood,” The New Yorker (x)

[bricknoizez]

guys.

Dr fetus from super meat boy is legally 16.

if he was made in 2008.

he legally is.

meaning that he's still adoptable.

[jcsmicasereports]

Trisomy 18 and Microdeletion 18p Mosaicism: A case report and literature review by Chao-Chun ZOU in Journal of Clinical Case Reports Medical Images and Health Sciences

ABSTRACT

The trisomy 18 syndrome is a common chromosomal disorder due to the presence of an extra chromosome 18, either complete, mosaic trisomy or partial trisomy 18q. The mosaic trisomy 18 patients’ phenotype was extremely variable, from the absence of dysmorphic features to complete trisomy 18 syndrome. The phenotype of 18p deletion syndrome is variable and almost all survived. A 2-year-old girl was referred to our hospital due to growth delay. Mild dysmorphy including thin hair, frontal bossing, low set ears, broad-flat nose, nostrils slightly upward, downturned corners of the mouth, dysplasia teeth, small hands and fingers bilaterally was observed. The karyotype of peripheral leukocyte showed 46,XX, psu idic (18)(p11.2)[55]/46,XX, del (18)(p11.2)[45]. We report this case to add to our knowledge of the trisomy 18 and microdeletion 18p mosaicism.

Keywords: Trisomy 18, mosaic;18p microdeletion; Psychomotor retardation; Karyotype

INTRODUCTION

The trisomy 18 syndrome was first reported by Edwards et al in 1960, also known as Edwards syndrome. It is the second most common autosomal chromosomal disorder after trisomy 21（Down’s syndrome）due to the presence of an extra chromosome 18, which has three basic types: complete, mosaic and partial type (Edwards et al., 1960, Cereda and Carey, 2012,Mudaliyar and Mudaliyar, 2017). The syndrome presents a recognizable pattern of major and minor anomalies, significant psychomotor and cognitive disability are associated with high neonatal and infant morbidity and mortality. The estimated overall prevalence of trisomy 18 in live born is approximately 1/6, 000 to 1/8, 000 while the incidence in fetus is much higher, the difference is caused by fetal loss and pregnancy termination after prenatal diagnosis (Cereda and Carey, 2012, Rasmussen et al., 2003). The mosaic trisomy 18 usually means having more than one cell line in the individual, and it occurs in approximately 5 percent in all trisomy 18 patients (Fitas et al., 2013). The phenotypic manifestations are highly variable, from the absence of dysmorphic features to the complete trisomy 18 syndrome (Tucker et al., 2007). Since the clinical outcomes of complete and mosaic trisomy 18 can be different, it is of vital importance to achieve a correct diagnosis because of implications in medical management and genetic counselling. 18p deletion was first described by de Grouchy and colleagues in 1963 and was estimated to occur in approximately 1/50, 000 live born, which results from deletion of a part or full of the short arm of chromosome 18(Turleau, 2008). The mostly reported clinical features include cognitive impairment, congenital heart defects, small stature, minor facial dysmorphy, and skeletal deformities(Turleau, 2008, Xiao et al., 2019, Hasi-Zogaj et al., 2015, Yi et al., 2014)

Typical facial features include hypertelorism, ptosis, strabismus, broad–flat nose, micrognathia, and low-set big ears. Holoprosencephaly may be seen in approximately 10–15% of patients(Turleau, 2008). In addition, speech and language difficulties, pituitary abnormalities, generalized seizures, dystonia, and autoimmune diseases have also been described(Turleau, 2008, Rao et al., 2001, Graziadio et al., 2009, McGoey et al., 2011). However, these non-specific features are easily overlooked clinically. The clinical phenotype severity is related to the size and location of deletion region. In this report, we present a 2-year-old girl of mosaic trisomy 18 and 18p microdeletion with mild psychomotor retardation, cognitive impairment and language developmental disability.

Clinical description

A 2-year-old female second child of non-consanguineous parents was admitted to our hospital due to growth delay. Her mother and father were 34 years old and 38 years old when giving birth to her. She was born at full-term with uncomplicated gestation, her birth weight was 3.35 kg and the length was about 50 cm. No feeding difficulty and complications were referred in the neonatal period. She had a motor retardation of autonomous walking until 22-months old and intelligence disability and language disability. She only knew a few simple words like ”mama“, not ”baba“, and she cannot communicate clearly with others though she was willing to speak to strangers. Gesell Developmental Schedules performed in local hospital indicated mental developmental delay in motor behavior, language behavior, adaptive behavior and personal-social behavior at age of one year and 8 months old. The height of her father, mother and 15

years old sister were 165cm, 161cm, and 155cm, respectively. No similar history was noted in her family.

On physical examination, she had a height of 81.4 cm below -3SD and a weigh of 11.6 kg below -1SD. Mild craniofacial dysmorphy was present, including thin hair, frontal bossing, low set ears, broad-flat nose, nostrils slightly upward, and downturned corners of the mouth while other craniofacial anomalies were not obvious (Fig.1A). Her hands were small especially her fingers, but the fingernails are normal (Fig.1B). Her teeth were dysplasia (Fig.1C). The echocardiography revealed patent foramen ovale (ϕ 2.96 mm) while no murmur was present. The muscle tension was normal and no other organ abnormality was detected in our patient.

Laboratory examinations (urine, liver, kidney, thyroid hormone, GS/MS and blood glucose analyses) were all normal. Insulin-like growth factor-1 was 72.5 ng/ml (normal range, 55-327 ng/ml).

Management and outcome

Ten months ago, the child was brought to a local hospital with developmental delay, the peripheral leukocyte karyotype was taken and revealed two abnormal cell lines, the result was 46,XX, psu idic (18)(p11.2)[55]/46, XX, del (18)(p11.2)[45] . She was then referred to another hospital to take the whole-exome sequencing demonstrating a deletion at 18p11.32-p11.22 (GRch37/hg19, chr18:158679 9708482del) and a duplication at

18p11.21-q23(GRch37/hg19, chr18:12012132 78005255dup). She was diagnosed mosaic trisomy 18 syndrome.

Discussion

The first reported patients with trisomy 18 syndrome were initially described by Edwards et al and Smith et al in 1960s, while the first case of mosaic trisomy 18 was reported in 1965. Less than 5% portion of patients have mosaicism of trisomy 18, and Banka et al reminded that routine karyotype from lymphocyte culture may not be sufficient to diagnose mosaicism if practitioners suspect a diagnosis of mosaic trisomy 18, karyotype from skin fibroblasts should be considered. Since then over 40 cases of mosaic trisomy 18 have been described, Tucker et al reviewed 33 reported individuals of mosaic trisomy 18 and added 2 more cases in 2007. Their clinical manifestations are extremely variable from complete trisomy 18 syndrome with early death to near totally normal. Some physical features are relatively more common and included brachydactyly, high arched palate, microcephaly, delayed bone age, frequent respiratory infections and otitis media, heart defect, 5th finger clinodactyly, micrognathia, and hypotonia. The most common heart defect is ventricular septal defect in mosaic trisomy 18. Our case has mild craniofacial dysmorphy and patent foramen ovale, and no other physical anomalies were observed.

Trisomy 18 mosaicism usually indicates the existence of more than one cell line in the individual. The peripheral leukocyte karyotype demonstrates pseudodicentric chromosome substituting a normal chromosome 18 in 55 cells and chromosome 18 missing the end of the short arm in 45 cells. The skin fibroblasts karyotype was not taken. Furthermore, there is no correlation between the physical and intellectual findings and the percentage of trisomy 18 cells in either peripheral leukocytes or skin fibroblasts. Besides, there is no correlation between the percentage of trisomic cells in peripheral leukocytes and brain, gonads, or other key organs. The variety of mosaic trisomy 18 may be related to the percentage of trisomic cells in different key organs of the body.

For complete trisomy 18 patients, approximately 50% of infants live longer than one week and about 5-10% of children survive beyond the first year. In overall, trisomy 18 mosaicism patients usually survive longer when compared to complete trisomy 18. This does not mean that all the mosaic trisomy 18 patients have a longer survival, some died a few hours after birth. For normal or mild phenotypical mosaic trisomy 18 cases, some were diagnosed due to recurrent miscarriages or giving birth to a child with trisomy 18 while others may never be identified. 18p deletion syndrome, also called monosomy 18p and De Grouchy syndrome type Ⅰ, which means a deletion of full short arm of chromosome 18 or a microdeletion of the short arm of chromosome 18. Some researches showed that nearly half of patients have breakpoints in the centromeric region and the rest scatter in the short arm, and approximately half of the deletions occur on the maternal chromosome 18 no matter where the breakpoint locations are. Our case’s breakpoint is at the 18p11.32-p11.22. Approximately two thirds of patients’18p deletion are de novo; the rest may be due to a de novo unbalanced translocation or malsegregation of parental chromosome rearrangement or a ring chromosome. The patient’s height and weight is 81.4 cm below -3SD, 11.6 kg below -1SD, respectively. It may be a prodrome of small stature, but her insulin-like growth factor-1 was normal. It also could be contributed to feeding problem. More follow-up work needs to be done to figure it out. Some reported cases show that growth hormone replacement treatment is efficient in growth hormone deficiency patients.

Our case has trisomy 18 and microdeletion 18p mosaicism simultaneously. The possibility of meiotic chromosomal nondisjunction of the ovogonia/spermatocyte was increased because of her parents’ advanced maternal age, some women may have higher a risk for nondisjunction. More possible mechanism may be a de novo unequal recombination occurring in early embryonic mitosis. Some deletions are from the parents, there is no way to figure her mutation mechanism out since we can not get her parents’ consent to analysis. The phenotype of our case combines two syndromes’ typical features, including common psychomotor retardation, cognitive impairment and congenital heart defect, characteristic small stature and language impairment of 18p deletion syndrome. Our case’s uncharacteristic craniofacial features also combine two syndromes.

In a conclusion, mosaic trisomy 18 and 18p deletion syndrome both are chromosomal disorders which has a variety of clinical manifestations. If an individual has untypical phenotypical anomalies and psychomotor and cognitive disability, chromosome disorder should be considered and cytogenic analysis is needed.

Acknowledgements: We thank the patient and his parents for permitting us to use the data.

[phoenix]

Huh.

Okay, the movie gets points for hammering a crowbar through the back of a dude's neck and using it as leverage to pop the skull off.

[repostianagrande]

16 september 2008; ariana grande stars on broadway as charlotte in '13: the musical' in the 22 previews before the official opening

[warmglowofsurvival]

[marcyonacross]

4, 21 & 32 for the questions! ♡

Hey lovely! 💕

4. Which cryptid being do you believe in?

I was going to give this a serious answer, but because it's you - Tobias Forge

21. Something you've kept since childhood?

I have three good answers for this - my white rabbit plush who is so old he's now grey, the ipod nano my dad got me in 2008 filled with such gems as pendulum_tarantula_clean.mp3 and an unbeatable Sonic the Hedgehog game, and a Faith No More shirt that again my dad got me at a FNM gig when I was still a fetus 😎

32. Do you have a favourite towel?

RED TOWEL MY BELOVED!!!!! The towel my nan got me to go to uni with, that is so thoroughly stained with bleach and hair dye and has been washed so much that it's soft as cardboard........ My beloved......

Thank you for the ask @sakuraspoke!

[nnytweets]

Geezus. You think people would appreciate a laugh in hard times, but shaking a freshly cut out fetus whimsically isn’t at all appreciated.

May 26, 2008

[alexbkrieger13]

OMG. Fetus Magda. She wasn't even outed in the pic in the sweden jersey

https://bildbyran.se/?q=cU1hZ2RhbGVuYSBFcmlrc3NvbjtyMQ&offset=100#photoview

For 2008 that is actually very good photo quality

[bopinion]

2023 / 44

Aperçu of the Week:

"The USA is the main perpetrator of all massacres, from Hiroshima to Vietnam to Afghanistan. They must pay the price for their aggression."

(Hezbollah Secretary General Hassan Nasrallah, Lebanon, in a commentary on the Gaza war)

Bad News of the Week:

The Slovak Republic has a new old prime minister. New, because Robert Fico succeeds a center-right government led by the conservative OL'aNO (yes, that's how you spell it) that imploded after early elections. Old, because Fico, as leader of the left-wing nationalist party Smer ("Direction / Slovak Social Democracy"), which he founded, already held the office of Slovakian Prime Minister from 2006 to 2010 and again from 2012 to 2018.

During his first term in office, Slovakia joined the Schengen area and the Eurozone. So surely Fico is a convinced European? Unfortunately, he is not. Even worse for the head of state of a former Soviet satellite state: he is a staunch Russia fan from A to Z. Not to say a Putin groupie. And always has been. During the Caucasus War in 2008 (his first term in office), Fico condemned the "Georgian aggression" and took sides with Russia. During the annexation of Crimea in 2014 (his second term in office), he repeatedly criticized the EU sanctions imposed on Russia and even threatened to veto them.

And now? Even during the Ukraine war (his third term in office), his partisanship is absolutely clear. Even clearer than ever before. Samples from announcements made in recent days: Bratislava will not supply "one more shot of ammunition" to neighboring Ukraine. Ukraine is "one of the most corrupt countries in the world". The planned new EU aid package of no less than 50 billion euros is to be prevented. The money would fall into exactly the wrong hands. After all, the war had already begun in 2014 when "Ukrainian Nazis and fascists began murdering the Russian population in the Donbass". Ouch.

Hungary's Prime Minister Viktor Orban can be pleased to have found a spiritual twin in Fico. And the much-vaunted EU unity on foreign policy issues is no longer just crumbling, it is slowly collapsing. The planned twelfth round of Russia sanctions is under long-term threat. And not just by Fico's own left-wing populist Smer party. Because its ultra-nationalist coalition partner SNS is linked to the Kremlin party "United Russia" by a friendship treaty. Incidentally, it has this in common with the Austrian FPÖ (Freiheitliche Partei Österreichs / Freedom Party of Austria). Elections will be held next year in the country neighboring Hungary and Slovakia. And it looks as if the Freedom Party's Herbert Kickl could win. Well then, good night Europe.

Good News of the Week:

"Poison for Eternity" is the title of a current TV documentary by ARD, the first public broadcaster in Germany. Which is known for its seriousness. So I was surprised by this extreme statement. Poison for eternity. But unfortunately that really seems to be the case. It's about PFAS. That stands for "per- and poly-fluorinated alkyl substances". And I had never heard of it before. And I would almost have preferred it to stay that way.

There are more than 10,000 different chemicals that are PFAS. They come in solid, liquid and gaseous form. And we all come into contact with them every day: they are found in food packaging and dental floss, for example. In outdoor clothing and car tires. In semiconductor technology and battery production. In other words: everywhere. And the stuff is practically non-degradable by natural means, hence "eternity".

Unfortunately, various health risks that PFAS can cause if it enters the human organism have been known since the 1960s. For example, the reduction of the vaccination response. Or the development of a fetus during pregnancy. Or simply cancer. Extensive research over the last 20 years has shown that PFAS can be detected in the blood of practically every human being on this planet. And so far nothing has happened. Excuse me?

But now - better late than never - Germany and four other EU countries have submitted an application to the responsible chemicals authority to restrict the manufacture, use and marketing of this devilish stuff. The development of alternatives will still take years. And the PFAS already in circulation will remain. But at least no new ones will (hopefully) be added in the near future. Where can I sign?

Personal happy moment of the week:

We met up with a friend for breakfast at the weekend. In a really nice café that we hadn't been to before. My vital breakfast included homemade raspberry jam. On a stroke of genius, I didn't spread it on a wholemeal roll, but ordered a croissant instead. The combination was a dream. Fortunately, the jam was also sold to take away. And I can now enjoy this culinary discovery at home too. Simple pleasures are sometimes the best.

I couldn't care less...

...about the so-called "parliamentary immunity". This is the term used to describe the protection of a political mandate or office holder from prosecution on the basis of their mandate or office. This legal right, which was created in Germany in the middle of the 19th century, was originally intended to protect the legislature from attacks by the then still monarchical executive. That is long gone. However, a certain degree of protection against prosecution still exists.

This is probably what the elected Bavarian AfD politician Daniel Halemba, who was arrested on Monday just hours before the constituent session of the Bavarian state parliament - i.e. shortly before his immunity was due to begin - had hoped. The charge fits perfectly with the far-right tendencies of the AfD (Alternative für Deutschland / Alternative for Germany): "incitement of the people and use of symbols of anti-constitutional organizations". The young man is just 22 years old.

But in other countries, too, the immunity of public officials plays a role in many applying for political office. It is an open secret that Donald Jessica Trump hopes to be re-elected to be protected from the many criminal prosecutions against him. Just like Israel's Prime Minister Benjamin Bibi Netanyahu. Both are therefore also - and this is even worse - trying to discredit the neutrality of the judiciary by accusing it of having a partisan political agenda. Because of course you are innocent and merely the victim of a witch hunt.

As I write this...

...I feel very trendy. Because "Goofy" has been voted the German (!) youth word of the year. And - what a surprise - it stands for "in reference to the Walt Disney comic character (for) a clumsy, silly person or behavior". I knew that before today's teenagers were even born. I must be ahead of my time.

Post Scriptum

There are rising attacks on Jews - all over the world. In the Russian autonomous region of Dagestan, for example, a mob stormed the airport earlier this week when a plane from Tel Aviv landed there. In Dagestan, as in most of the North Caucasus regions, almost only ethnic Muslims live. It can therefore be assumed that the attack was based on a misinterpretation of the widespread nonsense "All Jews are against all Muslims". We could, we should know better.

Unfortunately, people in Germany don't know any better. Since the beginning of the Gaza war, anti-Semitic crimes have more than doubled. The classic: Star of David graffiti on supposedly Jewish doors. Under National Socialism, Jewish families' homes and businesses were marked in this way, making them the target of unpunished attacks by whoever. This is reprehensible, oblivious to history, questionable, disgusting. And dangerous. Because it can fuel latent anti-Semitism, which unfortunately exists in this country just as much as latent racism. This is how a silent prejudice can turn into open violence. The majority that likes to remain silent must clearly oppose this. There is no line to cross in Germany that could be redder.