The nervous system and the eye
C. Simon Herrington in Muir's Textbook of Pathology, 2020
Saccular aneurysms occur on the arteries of the base of the brain and rupture occurs in 6–12/100,000 population per year. About 10%–15% of patients are found to have multiple (usually two or three) aneurysms. The common sites are the upper end of the internal carotid artery (40%), the anterior communicating artery (30%), the middle cerebral artery (20%), and the basilar and vertebral arteries (5%–10%). Aneurysms occur more commonly in women, and between age 40 and 60 years. Although often called congenital aneurysms, the developmental abnormality is a defect in the media of the artery at a division. Early atheroma and hypertension probably contribute to the development of the aneurysm. Most aneurysms that rupture measure 5–10 mm in diameter. Some 10% of patients die before reaching hospital, and a further 30% within the next few days. A further 35% re-bleed and die within the first year, most within the first 2 weeks.
Introduction to Drugs and Pregnancy
“Bert” Bertis Britt Little in Drugs and Pregnancy, 2022
Approximately 3.5–5 percent of live-born infants have a birth defect when examined at birth or neonatally (Polifka and Friedman, 2002), and this is termed the background population risk for congenital anomalies. The prevalence of birth defects may normally be 8 percent, according to a British Columbia universal disease registry (Baird et al., 1989). Estimated teratogenic causes of birth defects (Figure 1.1) show that 1 percent of congenital anomalies are caused by drugs, chemicals, and other exogenous agents (i.e., an estimated one in 400 infants has a birth defect with a teratogenic etiology). Estimates have not changed over several decades, perhaps because genomic research eclipses research in clinical teratology (Polifka and Friedman, 2002). Lack of research funding for research in human birth defects is often attributed to the higher priority given to genomic and other bench science. Little funding goes to birth defects monitoring or epidemiology. Much research remains to be done. The magnitude of the problem of medication use during pregnancy may be underestimated. Approximately 65–70 percent of birth defects have an unknown etiology, some of which may be unrecognized human teratogens not researched because of the lack of resources and funding. Unreported or under-studies of the teratogenic potential of medically prescribed medication contribute to our lack of information on many medications used in pregnancy.
Malrotation
P Ronan O’Connell, Robert D Madoff, Stanley M Goldberg, Michael J Solomon, Norman S Williams in Operative Surgery of the Colon, Rectum and Anus Operative Surgery of the Colon, Rectum and Anus, 2015
A discussion related to congenital adhesions must be included at this point as these occur frequently in rotational abnormalities sometimes with disastrous sequelae. When two peritonealized structures come into frequent apposition, focal adhesions may develop that involve a condensation of peritoneum at these points. There are several normal variants of this in the healthy adult, the so-called ‘congenital adhesions’. These should be listed to avoid interpretation as a developmental abnormality. They occur (1) in the left iliac fossa between the mesosigmoid and adjacent abdominal wall, (2) between the fourth part of the duodenum and the adjacent portions of the transverse and left mesocolon, (3) involving omentum and the cephalad aspect of the transverse mesocolon (thus semi-obliterating the lesser sac), and (4) involving omentum and appendices epiploicae. The process of adhesion development is problematic in the setting of rotational abnormalities given the proximity of mesenteric structures and serosal surfaces (see above under Disease status). A broad range of focal congenital adhesions can be observed between peritonealized omental, mesenteric, epiploical, mesocolonic, and somatic structures. In the setting of rotational abnormalities, the classic adhesions described include duodenocolic adhesions that extend from the second/third part of the duodenum to the ascending or transverse colon Figure 4.3.2. These are divided in the Ladd’s procedure (see below under Ladd’s procedure).
Recent advances in targeting protein arginine methyltransferase enzymes in cancer therapy
Published in Expert Opinion on Therapeutic Targets, 2018
Emily Smith, Wei Zhou, Polina Shindiapina, Said Sif, Chenglong Li, Robert A. Baiocchi
Unlike other methyltransferases in the PRMT family, PRMT3 is located exclusively in the cytosol and does not appear to exhibit any known direct epigenetic functions. Rather, PRMT3 modifies a variety of non-histone substrates that control protein synthesis and the spliceosome. PRMT3 contains a zinc-finger domain at its N-terminus (Figure 1), which allows it to target the 40S ribosomal protein S2 (rpS2) and maintain ribosomal homeostasis within the cell (Figure 1) [37]. Mouse embryos expressing a targeted mutant PRMT3 are smaller than wildtype embryos. Despite this initial developmental abnormality, all survive after birth and reach a normal size during adulthood. Mice that are deficient in PRMT3 activity also exhibit hypomethylated rpS2, confirming this is an in vivo substrate for PRMT3 [38].
Association of MTHFR 1298A > C Polymorphism with Susceptibility to Non-Syndromic Cleft Lip with or without Palate: A Case-Control Study and Meta-Analysis
Published in Fetal and Pediatric Pathology, 2021
Seyed Mohammadreza Niktabar, Hossein Aarafi, Seyed Alireza Dastgheib, Mahmood Noorishadkam, Seyed Reza Mirjalili, Mohamad Hosein Lookzadeh, Mohammad Javad Akbarian-Bafghi, Majid Morovati-Sharifabad, Hossein Neamatzadeh
Non-syndromic cleft lip with or without palate (NSCL ± P) is the most common craniofacial birth defect worldwide [1]. NSCL ± P has a varying incidence ranging from approximately 1 in 500 to 1 in 1,000 live births annually depending on ethnicity and country [1,2]. It is a genetically heterogeneous disease that does not follow normal Mendelian patterns of inheritance; rather, in less than 15% do identified genetic causes contribute to NSCL ± P [3]. NSCL ± P exhibits etiological heterogeneity wherein genetic variants and environmental factors can predispose to an orofacial cleft [2]. A number of genome scans showed that there are five putative regions that have been associated with NSCL ± P development in populations of various ancestries, including 1p36.13-31 (MTHFR), 2p16.3-11.2 (TGFα), 2q32-37.2 (SATB2), 3p26-21.2, 6q21-27 (T) and 16q21-24 (CRISPLD2) [4–8].
Cone beam computed tomography imaging of superior semicircular canal morphology: a retrospective comparison of cleft lip/palate patients and normal controls
Published in Acta Odontologica Scandinavica, 2018
Oğuzhan Altun, Suayip Burak Duman, Ibrahim Sevki Bayrakdar, Yasin Yasa, Sacide Duman, Sevcihan Günen Yılmaz
Cleft lip and palate (CL/P) is a common birth defect (∼9.1 cases per 10,000 births) and varies by ethnic group, geographical location and socioeconomic conditions [1]. A cleft palate is attributable to complete or incomplete assembly of the medial nasal prominence(s) on one or both sides [2]. A CL/P compromises hearing, speech and facial configuration. For several reasons, it is essential to explore the relationship between CL/P and other malformations. In addition, the association of CL/P with other congenital anomalies would increase our understanding of the embryogenic situation underlying the malformation [3]. Children with CL/P experience feeding difficulties, dental anomalies (e.g. tooth agenesis or supernumary teeth) and an increased risk of infection; they may also eventually develop speech and socio-psychological problems because they are stigmatized. A CL/P occurs more often in newborn males than females. Although facial regions near the cleft may experience delayed growth, surgical intervention allows individuals born with a CL/P to exhibit craniofacial, catch-up skeletal growth [4,5]. As a CL/P can affect maxillofacial bone structure, we explored whether semicircular canal dehiscence (SSCD) is more common in CL/P patients than normal controls.
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