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Results for “Developmental diseases”

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At least 127 records · Page 7Linked to original sources
PubMed2003

[DiGeorge syndrome/velcardiofacial syndrome: oral and maxillofacial surgery].

The DiGeorge syndrome/velocardiofacial syndrome is the most frequent chromosomal microdeletion syndrome. Partial deletion of chromosome 22q11 may lead to symptoms including facial dysmorphy, hypoparathyroidism, thymic aplasia, congenital heart disease, developmental retardation, and disturbance of speech development. According to the literature, 9% of patients have cleft palate, an additional 5% have a submucosal cleft, and a total of 32% show velopharyngeal insufficiency. We studied 64 children with a cleft, or with delayed speech development and a submucosal or occult cleft, for the presence of the 22q11deletion using fluorescent in situ hybridisation. Five patients had the 22q11 deletion. We conclude that patients presenting with nasal speech and additional anomalies should all be studied for the presence of submucosal or occult clefting and for the presence of the DiGeorge syndrome/velocardiofacial syndrome.

Adolescent↗
PubMed2004

Kallmann syndrome: fibroblast growth factor signaling insufficiency?

Kallmann syndrome (KAL) is a developmental disease that combines hypogonadotropic hypogonadism and anosmia. Anosmia is related to the absence or hypoplasia of the olfactory bulbs. Hypogonadism is due to GnRH deficiency and is likely to result from the failed embryonic migration of GnRH-synthesizing neurons. These cells normally migrate from the olfactory epithelium to the forebrain along the olfactory nerve pathway. KAL is phenotypically and genetically heterogeneous. The gene responsible for the X-chromosome linked form of the disease (KAL1) has been identified in 1991. KAL1 encodes anosmin-1, an approximately 95-kDa glycoprotein of unknown function which is present locally in various extracellular matrices during the period of organogenesis. The recent finding that FGFR1 mutations are involved in an autosomal dominant form of Kallmann syndrome (KAL2), combined with the analysis of mutant mouse embryos that no longer express Fgfr1 in the telencephalon, suggests that the disease results from a deficiency in FGF signaling at the earliest stage of olfactory bulb morphogenesis. We propose that the role of anosmin-1 is to enhance FGF signaling and suggest that the gender difference in anosmin-1 dose (because KAL1 partially escapes X-inactivation) explains the higher prevalence of the disease in males.

Extracellular Matrix Proteins↗
PubMed1998

Florid periosteal reaction and focal fibrocartilaginous dysplasia.

Focal fibrocartilaginous dysplasia (FFCD) is a rare condition causing tibia vara in childhood. It is characterized by progressive tibia vara in young children with a characteristic radiographic lesion. This paper is thought to be the first to describe FFCD exhibiting florid periosteal reaction at the time of presentation with a subtle faint osteolytic lesion in the diametaphysis of the proximal tibia.

Bone Diseases, Developmental↗
PubMed1996

Cloning of human neuronatin gene and its localization to chromosome-20q 11.2-12: the deduced protein is a novel "proteolipid'.

Human brain development is a continuum governed by differential gene expression. Therefore, we proceeded to identify genes selectively expressed in the developing brain. Using differential display and library screening, a novel rat cDNA, neuronatin, was identified and used to screen a human fetal brain cDNA library. Human neuronatin cDNA was isolated and sequenced. The cDNA was 1159 bp long and corresponded in size to the 1.25 kb message detected on Northern analysis. Neuronatin mRNA was selectively expressed in human brain during fetal development, but became repressed in adulthood. When studied in the rat, neuronatin mRNA first appeared at mid-gestation in association with the onset of neurogenesis, becoming most pronounced later in development when neuroepithelial proliferation and neuroblast commitment are manifest, and declined postnatally coinciding with the completion of neurogenesis. The deduced protein has two distinct domains, a hydrophobic N-terminal and basic C-terminal rich in arginine residues. Both the amino acid sequence and secondary structure of this amphipathic polypeptide exhibited homology to PMP1 and phospholamban, members of the "proteolipid' class of proteins which function as regulatory subunits of membrane channels. The neuronatin gene, 3973 bases long, contains in its 5'-flanking region a neural restrictive silencer element which may govern neuron-specific expression. Based on screening a somatic cell hybrid panel, neuronatin gene was assigned to chromosome-20. And, using deletion constructs of chromosome-20 and fluorescence in situ hybridization, neuronatin was localized to chromosome-20q11.2-12. In conclusion, neuronatin is a novel human gene that is developmentally regulated and expressed in the brain. The deduced protein is a proteolipid that may function as a unique regulator of ion channels during brain development. The definitive localization of neuronatin to human chromosome 20q11.2-12 provides the basis to investigate this gene as a candidate in neuro-developmental diseases that may also map to this region.

Amino Acid Sequence↗
PubMed1959

Fibrous dysplasia.

Explore the source record for details and available documents.

Bone Diseases, Developmental↗
PubMed1991

SMI-32 immunoreactivity in human striate cortex during postnatal development.

SMI-32, an antibody which recognizes the non-phosphorylated epitopes on the neurofilament proteins was used to study the morphological changes in the human striate cortex during postnatal development. Striate cortices from 12 autopsied patients with ages ranging from 1 day to 70 years were obtained. Using the avidin-biotin-peroxidase method, the first SMI-32 immunoreactive neurons were identified at sublayers Vb/VIa on the first postnatal day. At 5 months, the next group of neurons to develop immunoreactivity were in IVb. By 15 months, SMI-32 immunoreactive neurons were observed at III, IVa, IVb, V and VI. The changes in SMI-32 immunoreactivity (ir) were stabilized from 3 years and after. The SMI-32 ir in the striate cortex could be a useful morphological correlate for studying developmental diseases affecting the neocortex.

Adult↗
PubMed1995

Regional and age-dependent differences in the affinity of dopamine D2 agonist binding in the rat brain.

In sagittal brain sections of newborn male rats (1-day-old) there were no regional differences in the IC50 values of dopamine at [125I]iodosulpride binding sites. In contrast, in 20- and 60-day-old rats, there was a selective increase in the IC50 values of dopamine in the nucleus accumbens, caudate-putamen, and olfactory tubercule. The IC50 values of these regions decreased in 262-day-old rats. Some of the other brain areas appeared to behave in a similar, but much less pronounced, fashion. Thus, there were significant regional differences in the IC50 values of young, adult, and old rats. In addition, there was a rapid increase in [125I]iodosulpride binding between the newborn and the 20-day-old rats, which leveled off thereafter, and selectively decreased in the substantia nigra of the 262-day-old rats. In conclusion, these results indicate that a biphasic decrease-increase in the affinity of D2 agonist binding sites occurs selectively in the basal ganglia. These findings may be of relevance for developmental diseases in which dopaminergic mechanisms have been implicated, such as schizophrenia and Parkinson's disease.

Aging↗
PubMedDate not supplied

Macro cisterna magna: a marker for maldevelopment of the brain?

Enlargement of the cisterna magna occurs in as many as 0.4% of reported patients and generally has been believed to represent a normal variant. Differentiation from Dandy-Walker malformations and other cystic structures has been emphasized. We reviewed 1,260 consecutive computed tomography reports in patients younger than 21 years of age and examined all scans in which enlargement of the cisterna magna was considered an isolated finding. Fourteen patients were identified (incidence: 1%). The primary reasons for obtaining computed tomographic scans included various clinical conditions but excluded symptoms indicative of posterior fossa disease. Developmental or neurologic abnormalities were present in 62% of these patients. Macro cisterna magna should not be dismissed as a normal variant, although the neurologic findings may not be specifically localized to the posterior fossa. This finding may be a marker for abnormal brain function most likely due to subtle disturbances in brain development.

Brain↗
PubMed1995

Neonatal segmental myoclonus associated with hyperglycorrhachia.

Segmental or spinal myoclonus is an uncommon involuntary movement in infancy which has been attributed to sepsis, degenerative and developmental diseases of the spinal cord, birth trauma, and sclerosing panencephalitis. A premature infant presenting with segmental myoclonus associated with extreme hyperglycorrhachia secondary to the administration of parenteral nutrition through a femoral percutaneous indwelling central catheter that had inadvertently migrated into a paravertebral vein is reported. We recommend a lateral abdominal radiograph in addition to the usual anteroposterior view to confirm the correct placement of femoral catheters.

Blood Glucose↗
PubMed2005

Psychoneuroendocrine processes in human pregnancy influence fetal development and health.

Individual differences in psychoneuroendocrine function play an important role in health and disease. Developmental models postulate that these individual differences evolve through a progressive series of dynamic time-, place- and context-dependent interactions between genes and environments in fetal, infant and adult life. The effects of early experience have longer-lasting and more permanent consequences than those later in life. Experimental studies in animals have provided convincing evidence to support a causal role for stress-related psychoneuroendocrine processes in negatively influencing critical developmental and health outcomes over the life span, and have also offered valuable insights into putative physiological mechanisms. However, the generalizability of these findings from animals to humans may be limited by the existence of large inter-species differences in physiology and the developmental time-line. We have initiated a program of research in behavioral perinatology and conducted studies over the past several years to examine the effects of stress-related psychoneuroendocrine processes in human pregnancy on fetal developmental and health outcomes. Our findings support a significant and independent role for maternal prenatal stress in the etiology of prematurity-related outcomes, and suggest that these effects are mediated, in part, by the maternal-placental-fetal neuroendocrine axis, and specifically by placental corticotropin-releasing hormone. Our findings also suggest that the use of a fetal challenge paradigm offers a novel way to quantify fetal neurobehavioral maturity in utero, and that the maternal environment exerts a significant influence on the fetal neurodevelopmental processes related to recognition, memory and habituation. Finally, our findings provide preliminary evidence to support the notion that the influence of prenatal stress and maternal-placental hormones on the developing fetus may persist after birth, as assessed by measures of temperament and behavioral reactivity in the first few years of postnatal life. A description of this body of work is followed by the elucidation of questions for further research and a discussion of implications for life-span development and health.

Animals↗
PubMed2006

Klippel-Trenaunay-Weber syndrome and intramedullary cervical cavernoma: a very rare association. Case report.

BACKGROUND: Klippel-Trenaunay-Weber syndrome is a rare mesodermal phakomatosis characterized by cutaneous hemangiomata, venous varicosities, and osseous-soft tissue hypertrophy of the affected limb. As the pathologic aspect of KTWS arises from the site in which malformations occur, the clinical picture varies widely from patients who complain for cosmetic reasons to patients with life-threatening lesions. CASE DESCRIPTION: We describe a very rare case in which KTWS was associated with a cervical intramedullary cavernous angioma surgically treated. CONCLUSION: This report confirms the wide range of expression of vascular abnormalities in neurocutaneous developmental diseases and the need of a careful multisystemic evaluation of these patients.

Adult↗
PubMed1999

Suppression subtractive hybridization: a versatile method for identifying differentially expressed genes.

A new and highly effective method, termed suppression subtractive hybridization (SSH), has been developed for the generation of subtracted cDNA libraries. It is based primarily on a technique called suppression PCR, and combines normalization and subtraction in a single procedure. The normalization step equalizes the abundance of cDNAs within the target population and the subtraction step excludes the common sequences between the target and driver populations. As a result only one round of subtractive hybridization is needed and the subtracted library is normalized in terms of abundance of different cDNAs. It dramatically increases the probability of obtaining low-abundance differentially expressed cDNA and simplifies analysis of the subtracted library. The SSH technique is applicable to many molecular genetic and positional cloning studies for the identification of disease, developmental, tissue-specific, or other differentially expressed genes. This chapter provides detailed protocols for the generation of subtracted cDNA and differential screening of subtracted cDNA libraries. As a representative example we demonstrate the usefulness of the method by constructing a testis-specific cDNA library as well as using the subtracted cDNA mixture as a hybridization probe. Finally, we discuss the characteristics of subtracted libraries, the nature and level of background nondifferentially expressed clones in the libraries, as well as a procedure for the rapid identification of truly differentially expressed cDNA clones.

Animals↗
PubMed2001

Mouse models of abnormal skeletal development and homeostasis.

Studies of a number of mouse mutations with skeletal defects have contributed significantly to the understanding of bone development and homeostasis. In many cases, such mutants are also genetic models of disorders in humans, characterized by reduced bone mass (osteoporosis), increased bone mass (osteopetrosis), or abnormalities in endochondral ossification (chondrodysplasias).

Animals↗
PubMed2001

Hind limb lameness in the young patient.

Hind limb lameness is seen frequently in young dogs and may result from congenital abnormalities, traumatic injuries, or developmental diseases. An understanding of the patient's history, a good physical and radiographic evaluation, and sound knowledge of the common diseases affecting immature dogs permit early diagnosis and successful treatment in most cases.

Animals↗
PubMedDate not supplied

The possible role of immunologic injury in the dysplastic bony lesion in LP/J mice.

An immunohistologic study was performed on temporal bones from 30 LP/J mice and 17 CBA/J mice to assess the role of immunologic injury in the pathogenesis of dysplastic bony lesions in LP/J mice. Temporal bones were harvested from animals aged 2 to 31 months to evaluate the progression of the disease. As early as 2 months of age, before the onset of bony lesions, the tympanic cavities frequently contained small effusions coating the ossicles and otic capsules that were demonstrated to contain immunoglobulins and pockets of macrophages. Later in the course of the disease, bony lesions grossly and histologically similar to human otosclerosis developed, which stained for immunoglobulins. No similar bony lesions, effusions, cellular infiltrates, or staining for immunoglobulins was detected in the control animals, even in the presence of acute otitis media. This study suggests a role of immunologic injury in the pathogenesis of dysplastic bony lesions in LP/J mice.

Animals↗
PubMed1975

The utriculo-endolymphatic valve: its functional significance.

A study was made of the anatomical structure and functional significance of the ultriculo-endolymphatic (UE) valve in man. The material consists of 170 human temporal bones of which 75 were chosen to show normal structure through nine decades of life, 29 with endolymphatic hydrops, 22 with developmental defects and 44 with pertinent staining characteristics of the endolymphatic fluid. The studies show that the UE valve is ideally suited to preserve the humoral and anatomical features of the pars superior (utricle and canals) from the developmental, disease, and traumatic susceptibilities of the pars inferior (cochlear duct and saccule). Its function probably is to permit the occasional egress of excessive accumulation of endolymph to be processed in the endolymphatic sac and to accomplish this while preserving the normal endolymph volume and membrane anatomy of the utricle and canals.

Adolescent↗