Normal Anatomical Development Research Articles

Pediatric Desmoid Tumor of the Head and Neck: A Systematic Review and Modified Framework for Management by Age Group.

Unlike in adults, pediatric head and neck desmoid tumors (DTs) have greater capacity to interfere with normal anatomical development. Therefore, adequate interventions and management must be defined. We aimed to provide the most comprehensive systematic review on pediatric head and neck DTs to date, including assessment of lesion location predominance, intervention, and management, and examination of any associations between age and outcomes like surgical margin status, recurrence, and complications. A systematic literature review was conducted between January 1990 and December 2023 using PubMed, Scopus, and MEDLINE databases following the Preferred Reporting Items for Systematic Review and Meta-Analyses 2020 guidelines. We aimed to elucidate intervention and management strategies by studying various outcomes in 0-11 and 12-21 year olds. The literature search yielded 44 studies, totaling 121 patients. Most head and neck DTs localized to the mandible, cranium, and neck; occurred early (P = 4.18 years); and underwent local resection with positive margins. Older and younger patients shared no difference in complication or recurrence rates. We found recurrence is likely to occur with positive margins. Because standard treatment of DTs is surgical resection with negative margins, if technically feasible with reasonable associated morbidity, we suggest additional resection of the tumor to achieve negative margins. We also recommend more robust follow-up data collection, not only due to desmoid's high recurrence and data paucity in patients older than 12 years, but also, to better establish best management practices.

CONGENITAL MALFORMATION EXTERNAL AUDITORY CANAL

In contrast to anatomical variants, congenital malformations - synonymous with anomalies or dysplasia - are characterized by deviations not only from normal anatomical development but also from regular function. They can result from delayed development, abnormal embryogenesis or both due to spontaneous genetic mutations - this occurs in most congenital malformations of the outer and middle ear - genetic transmission and exogenous factors in about 10% of cases.

White matter abnormalities in the amputation variant of body integrity dysphoria

“Body integrity dysphoria” (BID) is a severe condition affecting nonpsychotic individuals. In the amputation variant of BID, a limb may be experienced as not being part of the body, despite normal anatomical development and intact sensorimotor functions. We previously demonstrated altered brain structural (gray matter) and functional connectivity in 16 men with BID with a long-lasting and exclusive desire for left leg amputation. Here, we aimed to identify, in the same sample, altered patterns of white matter structural connectivity. Fractional anisotropy (FA), derived from diffusion tensor imaging data, was considered as a measure of structural connectivity. Results showed reduced structural connectivity of: (i) the right superior parietal lobule (rSPL) with the right cuneus, with the superior occipital and with the posterior cingulate gyri, (ii) the pars orbitalis of the right middle frontal gyrus (rMFGOrb) with the putamen, and (iii) the left middle temporal gyrus (lMTG) with the pars triangularis of the left inferior frontal gyrus. Increased connectivity was found between the right paracentral lobule (rPLC) and the right caudate nucleus. By using a complementary method of investigation, we confirmed and extended previous results from the same sample of individuals with BID, showing structural alterations between areas tuned to the processing of the sensorimotor representations of the affected leg (rPCL), and to higher-order components of bodily representation such as the body image (rSPL) and visual processing. Alongside this network for bodily awareness, other networks such as the limbic (rMFGOrb) and the mirror (lMTG) systems showed alterations in structural connectivity. These findings consolidate current understanding of the neural correlates of the amputation variant of BID, which might in turn guide diagnostics and rehabilitative treatments.

From cradle to grave via the dissection room: the role of foetal and infant bodies in anatomical education from the late 1700s to early 1900s.

The preponderance of men in the narrative of anatomical education during the 1800s has skewed the historical perception of medical cadavers in favour of adult men, and stifled the conversation about the less portrayed individuals, especially children. Although underrepresented in both the historical literature and skeletal remains from archaeological contexts dated to the 1800s, these sources nevertheless illustrate that foetal and infant cadavers were a prized source of knowledge. In the late 1700s and 1800s foetal and infant cadavers were acquired by anatomists following body snatching from graveyards, from the child's death in a charitable hospital, death from infectious disease in large poor families, or following infanticide by desperate unwed mothers. Study of foetal and infant remains from the 1800s in the anatomical collection at the University of Cambridge shows that their bodies were treated differently to adults by anatomists. In contrast to adults it was extremely rare for foetal and infant cadavers to undergo craniotomy, and thoracotomy seems to have been performed through costal cartilages of the chest rather than the ribs themselves. However, many infants and foetuses do show evidence for knife marks on the cranium indicating surgical removal of the scalp by anatomists. These bodies were much more likely to be curated long term in anatomical collections and museums than were adult males who had undergone dissection. They were prized both for demonstrating normal anatomical development, but also congenital abnormalities that led to an early death. The current findings show that the dissection of foetal and infant cadavers was more widespread than previous research on anatomical education suggests. This research details the important role of the youngest members of society in anatomical education during the long 19th century, and how the social identity of individuals in this subgroup affected their acquisition, treatment and disposal by elite medical men of the time.

Photoautotrophic propagation of Brazilian ginseng [Pfaffia glomerata (Spreng.) Pedersen

Pfaffia glomerata (Spreng.) Pedersen is a medicinal species of great interest because it produces the phytoecdysteroid 20-hydroxyecdysone (20E). Generally, because of atypical growing conditions, in vitro propagated plants function less efficiently as autotrophs and have poorly developed morphological structures. This study analyzed the autotrophic potential of P. glomerata propagated in vitro and evaluated the influence that this has on 20E biosynthesis. Physiological and structural parameters of plants subjected to heterotrophic, photomixotrophic and photoautotrophic growth conditions were evaluated. Levels of 20E were measured by HPLC. Plants were acclimatized in a mixture of soil, sand and substrate, in a greenhouse. Conditions that provided higher carbon input led to an increase in plant growth, and the presence of sucrose was critical, in closure systems without a gas permeable membrane, for normal anatomical development of the micropropagated plants. The absence of sucrose increased photosynthesis and conditions that enhanced photoautotrophy induced greater levels of 20E. The increase of 20E levels by the photoautotrophic system offers new prospects for increasing the commercial production of this species, and for studies that could elucidate the biosynthetic pathway of phytoecdysteroids in plants.

Evaluation of Clinical and Radiographic Outcomes of Complete Subtalar Release in Clubfoot Treatment

We evaluated patients with unilateral clubfoot deformity who were treated by complete subtalar release according to Simons' criteria and assessed the correlation between clinical and radiographic results. Eleven patients underwent a complete subtalar release through a Cincinnati incision. Evaluation included a questionnaire and clinical and radiographic examination. Mean follow-up was 12 years 8 months. The radiographic measurement differences in the diagnostic angles between normal feet and clubfeet were not significant. Shortening of the talus and the navicular bone was significant. The talar dome was flattened in seven patients and was flattened, sclerotic, and irregular in one. Flattening of the talar head was detected in eight patients, irregularity in one, and deformity and sclerosis in one. Six patients had deformity in the talonavicular joint. The navicular bone was wedge shaped in nine patients and subluxated dorsally in seven. The talar head was congruent with the navicular bone semilunar in normal feet; this relation was not detected in patients treated for clubfoot. Radiographic changes, such as flattening of the talar, a wedge-shaped navicular bone, dorsal navicular migration, irregularity, and lack of congruence of the talonavicular joint, can be encountered postoperatively in clinically and cosmetically healthy patients. These changes may be caused by the nature of the disease, correcting manipulations or casting, or surgical techniques. Although complete subtalar release is an effective procedure for satisfactory clinical results, maintenance of anatomical configuration, but not normal anatomical development of tarsal bones, can be achieved with this method.

OC56: Developmental anatomy and morphology of the cerebellar vermis—essential knowledge for the imaging assessment of posterior fossa anomalies

To define easily identifiable and reproducible measurements and markers of normal anatomical development of the cerebellar vermis in vivo. Analysis of the midline sagittal views of the cerebellar vermis was performed in over 200 consecutive fetal MR examinations performed for sonographically suspected CNS and non-CNS indications. Analysis included identification of the fastigial point, vermian lobules and fissures, tegmento-vermian angle, and associated abnormalities of the posterior fossa, brainstem, and CNS. Craniocaudal diameter of the cerebellar vermis follows growth approximately predicted by the linear equation: diameter (mm) = 0.74 × gestational age (weeks) − 6.11, with an R2 value of 0.89. Average height above and below the fastigial point also followed a linear progression, with average percentages above and below of 47.9% and 52.1% respectively, and no significant change of this ratio with gestational age. The tegmento-vermian angle was always < 2°in normal fetuses, but was often increased, and when significantly increased was always associated with vermian hypoplasia. The declive and primary fissure always were visible in normals from 17.5 weeks. The other cerebellar vermian fissures were seen at approximately the following gestational ages: secondary at 20 weeks, prepyramidal at 21 weeks, and preculmenate at 22 weeks. The other lobules became visible from 24 weeks and all were potentially visible by 27 weeks. Alterations of the landmarks were identified in cases of rhombencephalosynapsis, Joubert syndrome, Dandy-Walker continuum, congenital muscular dystrophy, vermian dysgenesis and vermian hypoplasias. Knowledge of normal vermian developmental morphology is essential when assessing for vermian hypoplasia. Specifically, the lobules are not all visible before approximately 27 weeks at the earliest and therefore other morphological features have to be used in addition to simply counting the lobules.

Development of Columnar Topography in the Excitatory Layer 4 to Layer 2/3 Projection in Rat Barrel Cortex

The excitatory feedforward projection from layer (L) 4 to L2/3 in rat primary somatosensory (S1) cortex exhibits precise, columnar topography that is critical for columnar processing of whisker inputs. Here, we characterize the development of axonal topography in this projection using single-cell reconstructions in S1 slices. In the mature projection [postnatal day (P) 14-26], axons of L4 cells extending into L2/3 were confined almost entirely to the home barrel column, consistent with previous results. At younger ages (P8-11), however, axonal topography was significantly less columnar, with a large proportion of branches innervating neighboring barrel columns representing adjacent whisker rows. Mature topography developed from this initial state by targeted axonal growth within the home column and by growth of barrel columns themselves. Raising rats with all or a subset of whiskers plucked from P8-9, manipulations that induce reorganization of functional whisker maps and synaptic depression at L4 to L2/3 synapses, did not alter normal anatomical development of L4 to L2/3 axons. Thus, development of this projection does not require normal sensory experience after P8, and deprivation-induced reorganization of whisker maps at this age is unlikely to involve physical remodeling of L4 to L2/3 axons.

EFFECT OF CHRONIC EXPOSURE TO GASEOUS AMMONIA ON THE NASAL TURBINATES OF GNOTOBIOTIC PIGS

Pigs reared in and stock persons working in intensive production systems are continuously exposed to ammonia released by microbial degradation of animal excrement. Experimental studies have shown that exposure to this gas, at concentrations comparable to those encountered in buildings used for the intensive rearing of swine, increases the severity of the clinical disease progressive atrophic rhinitis in pigs by facilitating colonization of the upper respiratory tract by toxigenic Pasteurella multocida. During the course of these studies it was observed that mild turbinate atrophy also occurred in pigs from control groups exposed to ammonia but maintained free from P. multocida and Bordetella bronchiseptica. To determine whether exposure to ammonia is detrimental to the normal anatomical development of the mammalian nasal cavity, a study was conducted using gnotobiotic piglets. Twenty-one gnotobiotic piglets were derived from two sows by hysterectomy. Each litter was split into two groups, and the four groups were accommodated separately in sterile positive-pressure isolators supplied with high-efficiency particulate air (HEPA) filtered air. From 1 wk of age onward the air in the isolators housing one of the groups from each litter was modified by the addition of ammonia at a concentration of 9.1 and 15.7 ppm. The air supply to the isolators housing the littermate groups was not modified. At 6 wk of age all the pigs were euthanatized. The effect of ammonia exposure on the morphology of the nasal cavity of the pig was assessed by image analysis of a cross section of the pig's snout. Pigs exposed to ammonia were found to have a mild but statistically significant level of turbinate atrophy when compared to nonexposed lit termates. Histological examination revealed that prolonged ammonia exposure evoked changes to the mucous membranes lining the nasal cavity, characterized by epithelial hyperplasia with micro-abscess formation, goblet-cell hypoplasia, and inflammatory cell infiltration. Mild degenerative changes within the bony core of the ventral turbinate were also apparent, with a decline in the population of osteoblasts and simultaneous osteoclast proliferation. Group analysis revealed a correlation between the severity of turbinate atrophy and the increase in the number of osteoclasts per unit area of bony core (p<.05). These findings could explain why mild turbinate atrophy is seen on some pig units deemed free from pathogenic bacteria associated with the clinical disease atrophic rhinitis.

Alterations in geniculate ganglion proteins following fungiform receptor damage

Previous anatomical studies in rat have shown that damage produced to fungiform receptors of the anterior tongue at postnatal age 2 (P2[ alters the growth and ramification of primary gustatory axons in the rostral nucleus of the solitary tract (NST). Studies employing artificial rearing (AR) procedures, which functionally deprive rat pups of orochemical stimulation during critical periods of postnatal life, produce similar alterations in the development of primary gustatory axons in the NST. Therefore, orochemical stimulation during rat's early postnatal life is necessary for normal development of primary gustatory axons in the rostral NST. One hypothesis concerning receptor-damage effects and AR effects is that receptor damage during critical periods of development may alter the regulation (i.e. transcription/ translation) and/or distribution (i.e. transport) of proteins in geniculate ganglion neurons, thereby affecting growth of primary gustatory axons in the rostra] NST. Specific aims of the present experiments were to comprehensively examine electrophoretic profiles of geniculate ganglion proteins following P2 receptor damage and late (> P40) receptor damage. Results show that concentrations of particular geniculate ganglion proteins are differentially altered following P2 receptor damage and late receptor damage, and that early receptor damage and late receptor damage produces distinct effects on the electrophoretic profiles of particular classes of proteins. Between the ages of P7-P38, P2 receptor damage lowers ganglion concentration of an acidic membrane glycoprotein designated as A1, with an apparent M r of 64–67 kDa and a pI of 4.8–5.2. P2 receptor damage also lowers ganglion concentrations of GAP-43. P2 receptor damage produces transient decreases in ganglion concentrations of NF-160, NF-200, and 8 additional acidic proteins. Three of these proteins may correspond to peripheral nerve sheath proteins analyzed in previous studies of the sciatic nerve, and one of these proteins may correspond to a 24 kDa growth-associated protein characterized in regenerating optic nerve. The time-course for changes observed in ganglion proteins following P2 damage was consistent with that observed for normal anatomical development of primary gustatory axons in both the lingual epithelium and NST. Receptor damage produced at P40 and later yielded different patterns of changes in geniculate ganglion proteins. Late receptor damage produced a transient increase in ganglion concentrations of NF-160, NF-200, GAP-43 and four additional acidic proteins within the 29–57 kDa M r range. Late receptor damage also produced a transient decrease in the concentrations of protein A1 and a 30 kDa protein that was not affected by P2 damage. Therefore, proteins that were preferentially affected by P2 damage may be involved in the regulation of initial axonal growth within the lingual epithelium and NST, as opposed to the structural repair or maintenance of extant axons. Relationships between normal anatomical development in peripheral and central components of primary gustatory axons are discussed in relation to availability of particular cytoskeletal and growth-associated proteins.

Cortically evoked motor responses in patients with Xp22.3-linked Kallmann's syndrome and in female gene carriers.

Patients with Kallmann's syndrome show hypothalamic hypogonadism, hyposmia, and congenital mirror movements. As a correlate, a defect of gonadotropic neuron migration into the brain was recently detected. Considering abnormal outgrowth of neurons also as a possible substrate underlying mirror movements, we studied 3 patients and 2 asymptomatic female gene carriers from a kindred with proven linkage to Xp22.3, using focal transcranial magnetic stimulation of motor cortex hand areas with a figure-eight coil. In all 3 affected brothers, bilateral responses could be evoked almost simultaneously in their thenar muscles (slight latency differences were statistically insignificant). In contrast, the mother and the maternal aunt showed only unilateral, normal thenar responses, even with maximum tolerable stimulator output and high signal amplification. Correspondingly, mirror movements were present in the patients, but not in the gene carriers. Bilaterality of cortically evoked hand muscle responses and mirror movements, therefore, behaved as X-chromosomal recessive traits. A likely cause might be a disorder of neuronal outgrowth in the motor system, particularly of inhibitory callosal fibers. For normal anatomical development of the motor system, one intact Xp22.3 gene seems necessary.

A DEVELOPMENTAL STUDY OF THE LEAVES OF NICOTIANA GLUTINOSA AS RELATED TO THEIR SMOG–SENSITIVITY

Glater, Ruth Bobrov, Richard A. Solberg, and Flora M. Scott. (U. California, Los Angeles, and Los Angeles County Air Pollution Control District.) A developmental study of the leaves of Nicotiana glutinosa as related to their smog‐sensitivity. Amer. Jour. Bot. 49(9): 954–970. Illus. 1962.—Plants growing in the fields of Los Angeles County as well as those experimentally fumigated in the laboratory show gross markings in response to smog which vary from species to species, from a glistening appearance of the leaf undersurface due to a temporary accumulation of water in the affected cells through complete necrosis. In dicotyledonous leaves, “silvering,” “bronzing,” brown‐black mottling or an increase in anthocyanin may be seen. In monocotyledons, transverse banding, tan in color, or longitudinal streaking of leaves are the usual responses. This damage appears in a characteristic pattern on the leaves, different from that produced by other phytotoxicants. Nicotiana glutinosa plants were grown in the air‐filtered greenhouses at UCLA. The normal anatomical development of the foliage was studied and correlated with its susceptibility to smog injury. On a given plant, leaves of different ages show damage in different positions. Very young leaves at the apex of the plant and old leaves at the base of the plant are not sensitive. Expanding leaves between young and old in age are sensitive; in this group a distinct pattern of damage is discernible. Damage markings in the youngest leaves appear only at the tip; in leaves somewhat older, close to midblade; in fully mature leaves, only at the base. This localization of damage is shown to be correlated with the gradient of cellular differentiation from tip toward base as the leaf matures. Those cells which have just attained maximum size (young mature) are sensitive; damage, therefore, is a function of cellular development and maturity. The following anatomical details were analyzed: (1) differentiation and distribution of stomata and their opening and closing on both upper and lower epidermal surfaces and (2) development of intercellular air spaces in palisade and spongy parenchyma tissue. These studies indicate that damage occurs in the region of the leaf where stomata have just become functional and ambient polluted air can make direct contact with interior leaf tissues by virtue of large substomatal chambers and intercellular air spaces.

A Developmental Study of the Leaves of Nicotiana glutinosa as Related to Their Smog-Sensitivity

Glater, Ruth Bobrov, Richard A. Solberg, and Flora M. Scott. (U. California, Los Angeles, and Los Angeles County Air Pollution Control District.) A developmental study of the leaves of Nicotiana glutinosa as related to their smog-sensitivity. Amer. Jour. Bot. 49(9): 954–970. Illus. 1962.—Plants growing in the fields of Los Angeles County as well as those experimentally fumigated in the laboratory show gross markings in response to smog which vary from species to species, from a glistening appearance of the leaf undersurface due to a temporary accumulation of water in the affected cells through complete necrosis. In dicotyledonous leaves, “silvering,” “bronzing,” brown-black mottling or an increase in anthocyanin may be seen. In monocotyledons, transverse banding, tan in color, or longitudinal streaking of leaves are the usual responses. This damage appears in a characteristic pattern on the leaves, different from that produced by other phytotoxicants. Nicotiana glutinosa plants were grown in the air-filtered greenhouses at UCLA. The normal anatomical development of the foliage was studied and correlated with its susceptibility to smog injury. On a given plant, leaves of different ages show damage in different positions. Very young leaves at the apex of the plant and old leaves at the base of the plant are not sensitive. Expanding leaves between young and old in age are sensitive; in this group a distinct pattern of damage is discernible. Damage markings in the youngest leaves appear only at the tip; in leaves somewhat older, close to midblade; in fully mature leaves, only at the base. This localization of damage is shown to be correlated with the gradient of cellular differentiation from tip toward base as the leaf matures. Those cells which have just attained maximum size (young mature) are sensitive; damage, therefore, is a function of cellular development and maturity. The following anatomical details were analyzed: (1) differentiation and distribution of stomata and their opening and closing on both upper and lower epidermal surfaces and (2) development of intercellular air spaces in palisade and spongy parenchyma tissue. These studies indicate that damage occurs in the region of the leaf where stomata have just become functional and ambient polluted air can make direct contact with interior leaf tissues by virtue of large substomatal chambers and intercellular air spaces.