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In humans and other mammals, the caudal cell mass (also tail bud or caudal eminence in humans) is the aggregate of undifferentiated cells at the caudal end on the spine. The caudal end of the spinal cord first begins to form after primary neurulation has taken place, indicating that it develops after the cranial portion of the spinal cord has developed. Following neurulation, the caudal tail begins to form a neurocele as it develops a hollow core. After this, secondary neurulation occurs in which the medullary cord begins to form and is filled with many cavities that ultimately form the lumen. [1] The cavities formed from the initial and secondary neurulation combine to form one uninterrupted cavity. [2] There is still speculation on the formation of the caudal cell mass in humans with arguments being made for it arising from many cavities or the continuing growth of the neurocele from the initial neurulation. [3] The caudal cell mass will ultimately differentiate and form into many sacral structures such various nerve endings and the conus medullaris. [4]
The caudal cell mass plays a role in many diseases and abnormalities related to the spinal cord. One group of abnormalities it plays a role in are occult spinal dysraphisms. These types of abnormalities arise from specific structures formed in the caudal mass, for example if proper differentiation of the caudal mass does not occur, it could result in a type of spinal dysraphism. [5] One example of spinal dysraphism is caudal regression syndrome. Patients with caudal regression syndrome can experience a varying degree of the abnormality ranging from partial lack of the tail bone and pelvis to more significant cases where there may be paralysis and, as a result, inhibited function in the bowel and bladder. This abnormality can be caused by the caudal cell mass not developing properly due to improper differentiation, and it can lead to sacral agenesis, which is one of the hallmarks of caudal regression syndrome. [6]
Another class of abnormalities from caudal cell mass development includes caudal dysgenesis, which refers to abnormalities where the sacrum may be deformed or absent, or abnormalities in which the spinal cord and the complementary organ systems may be malformed. Some of the abnormalities that fall under this class includes currarino syndrome and sirenomelia. These genetic defects were found to have a much higher rate of incidence in births to mothers with gestational diabetes. [7] This trend may be due to the inhibition of critical elements of morphogenesis, that are found in the extracellular matrix, or due to the presence of an abnormal hox gene. [8] [9] These abnormalities can be predicted ahead of time using ultrasound.
Ontogeny is the origination and development of an organism, usually from the time of fertilization of the egg to adult. The term can also be used to refer to the study of the entirety of an organism's lifespan.
Amniocentesis is a medical procedure used primarily in the prenatal diagnosis of genetic conditions. It has other uses such as in the assessment of infection and fetal lung maturity. Prenatal diagnostic testing, which includes amniocentesis, is necessary to conclusively diagnose the majority of genetic disorders, with amniocentesis being the gold-standard procedure after 15 weeks' gestation.
In the developing chordate, the neural tube is the embryonic precursor to the central nervous system, which is made up of the brain and spinal cord. The neural groove gradually deepens as the neural fold become elevated, and ultimately the folds meet and coalesce in the middle line and convert the groove into the closed neural tube. In humans, neural tube closure usually occurs by the fourth week of pregnancy.
The paramesonephric ducts are paired ducts of the embryo that run down the lateral sides of the genital ridge and terminate at the sinus tubercle in the primitive urogenital sinus. In the female, they will develop to form the fallopian tubes, uterus, cervix, and the upper one-third of the vagina.
Omphalocele or omphalocoele also called exomphalos, is a rare abdominal wall defect. Beginning at the 6th week of development, rapid elongation of the gut and increased liver size reduces intra abdominal space, which pushes intestinal loops out of the abdominal cavity. Around 10th week, the intestine returns to the abdominal cavity and the process is completed by the 12th week. Persistence of intestine or the presence of other abdominal viscera in the umbilical cord results in an omphalocele.
Neurulation refers to the folding process in vertebrate embryos, which includes the transformation of the neural plate into the neural tube. The embryo at this stage is termed the neurula.
Neuromeres are morphologically or molecularly defined transient segments of the early developing brain. Rhombomeres are such segments that make up the rhombencephalon or hindbrain. More controversially, some argue that there exist early developmental segments that give rise to structures of the midbrain (mesomeres) and forebrain (prosomeres).
Choroid plexus cysts (CPCs) are cysts that occur within choroid plexus of the brain. They are the most common type of intraventricular cyst, occurring in 1% of all pregnancies.
Sirenomelia, also called mermaid syndrome, is a rare congenital deformity in which the legs are fused together, giving the appearance of a mermaid's tail, hence the nickname.
A neurula is a vertebrate embryo at the early stage of development in which neurulation occurs. The neurula stage is preceded by the gastrula stage; consequentially, neurulation is preceded by gastrulation. Neurulation marks the beginning of the process of organogenesis.
Retinoic acid (used simplified here for all-trans-retinoic acid) is a metabolite of vitamin A1 (all-trans-retinol) that mediates the functions of vitamin A1 required for growth and development. All-trans-retinoic acid is required in chordate animals, which includes all higher animals from fish to humans. During early embryonic development, all-trans-retinoic acid generated in a specific region of the embryo helps determine position along the embryonic anterior/posterior axis by serving as an intercellular signaling molecule that guides development of the posterior portion of the embryo. It acts through Hox genes, which ultimately control anterior/posterior patterning in early developmental stages.
Caudal regression syndrome, or sacral agenesis, is a rare birth defect. It is a congenital disorder in which the fetal development of the lower spine—the caudal partition of the spine—is abnormal. It occurs at a rate of approximately one per 60,000 live births.
The neural fold is a structure that arises during neurulation in the embryonic development of both birds and mammals among other organisms. This structure is associated with primary neurulation, meaning that it forms by the coming together of tissue layers, rather than a clustering, and subsequent hollowing out, of individual cells. In humans, the neural folds are responsible for the formation of the anterior end of the neural tube. The neural folds are derived from the neural plate, a preliminary structure consisting of elongated ectoderm cells. The folds give rise to neural crest cells, as well as bringing about the formation of the neural tube.
Diastematomyelia is a congenital disorder in which a part of the spinal cord is split, usually at the level of the upper lumbar vertebra in the longitudinal (sagittal) direction. Females are affected much more commonly than males. This condition occurs in the presence of an osseous, cartilaginous or fibrous septum in the central portion of the spinal canal which then produces a complete or incomplete sagittal division of the spinal cord into two hemicords. When the split does not reunite distally to the spur, the condition is referred to as diplomyelia, which is true duplication of the spinal cord.
Velamentous cord insertion is a complication of pregnancy where the umbilical cord is inserted in the fetal membranes. It is a major cause of antepartum hemorrhage that leads to loss of fetal blood and associated with high perinatal mortality. In normal pregnancies, the umbilical cord inserts into the middle of the placental mass and is completely encased by the amniotic sac. The vessels are hence normally protected by Wharton's jelly, which prevents rupture during pregnancy and labor. In velamentous cord insertion, the vessels of the umbilical cord are improperly inserted in the chorioamniotic membrane, and hence the vessels traverse between the amnion and the chorion towards the placenta. Without Wharton's jelly protecting the vessels, the exposed vessels are susceptible to compression and rupture.
The spinal cord is a long, thin, tubular structure made up of nervous tissue, which extends from the medulla oblongata in the brainstem to the lumbar region of the vertebral column (backbone). The backbone encloses the central canal of the spinal cord, which contains cerebrospinal fluid. The brain and spinal cord together make up the central nervous system (CNS). In humans, the spinal cord begins at the occipital bone, passing through the foramen magnum and then enters the spinal canal at the beginning of the cervical vertebrae. The spinal cord extends down to between the first and second lumbar vertebrae, where it ends. The enclosing bony vertebral column protects the relatively shorter spinal cord. It is around 45 cm (18 in) long in adult men and around 43 cm (17 in) long in adult women. The diameter of the spinal cord ranges from 13 mm in the cervical and lumbar regions to 6.4 mm in the thoracic area.
The vertebral column, also known as the backbone or spine, is part of the axial skeleton. The vertebral column is the defining characteristic of a vertebrate in which the notochord found in all chordates has been replaced by a segmented series of bone: vertebrae separated by intervertebral discs. Individual vertebrae are named according to their region and position, and can be used as anatomical landmarks in order to guide procedures such as lumbar punctures. The vertebral column houses the spinal canal, a cavity that encloses and protects the spinal cord.
The development of the digestive system in the human embryo concerns the epithelium of the digestive system and the parenchyma of its derivatives, which originate from the endoderm. Connective tissue, muscular components, and peritoneal components originate in the mesoderm. Different regions of the gut tube such as the esophagus, stomach, duodenum, etc. are specified by a retinoic acid gradient that causes transcription factors unique to each region to be expressed. Differentiation of the gut and its derivatives depends upon reciprocal interactions between the gut endoderm and its surrounding mesoderm. Hox genes in the mesoderm are induced by a Hedgehog signaling pathway secreted by gut endoderm and regulate the craniocaudal organization of the gut and its derivatives. The gut system extends from the oropharyngeal membrane to the cloacal membrane and is divided into the foregut, midgut, and hindgut.
Caudal duplication, is a rare congenital disorder in which various structures of the caudal region, embryonic cloaca, and neural tube exhibit a spectrum of abnormalities such as duplication and malformations. The exact causes of the condition is unknown, though there are several theories implicating abnormal embryological development as a cause for the condition. Diagnosis is often made during prenatal development of the second trimester through anomaly scans or immediately after birth. However, rare cases of adulthood diagnosis has also been observed. Treatment is often required to correct such abnormalities according to the range of symptoms present, whilst treatment options vary from conservative expectant management to resection of caudal tissue to restore normal function or appearance. As a rare congenital disorder, the prevalence at birth is less than 1 per 100,000 with less than 100 cases reported worldwide.
A lipomyelomeningocele is a type of closed neural tube defect that affects around 3 to 6 babies out of 100,000 births. It is an example of a spinal lipoma, which is a collection of adipose tissue, or fat, that is located at or around the spinal cord. Essentially, it is a tumor of fat located on the spinal cord. A lipomyelomeningocele defect is present at birth and can present with physical defect of the spine and back, and it can also cause various neurological symptoms such as weakness and bladder and bowel incontinence. The general treatment for this spinal defect is surgical detachment of the lipoma from the spine.