Genetic Mutations Leading to Dento-Maxillofacial Abnormalities in Mice: A Systematic Review.

Introduction: To systematically review the available literature reporting on genetic mutations leading to dento-maxillofacial malformations in mice.

Materials And Methods: An electronic search was performed across Embase, PubMed, Web of Science, and Scopus databases up to May 2024, targeting all in vivo studies on gene mutations causing dento-maxillofacial deformities in mice. Studies reporting oral clefts were excluded.

Thinking with attachments: Appreciating a generative analytic.

Much current work in Science and Technology Studies inflects knowing with care. Analyses of the ethos of objectivity, and of the practices by which objectivity is crafted, have shown that knowing and caring cannot be thought apart from each other. Using case studies from our own work we analyse how, in the sociotechnical relationships that we study, knowing and caring are entangled through 'attachments'.

Stability strengths and weaknesses in protein structures detected by statistical potentials: Application to bovine seminal ribonuclease.

We present an in silico method to estimate the contribution of each residue in a protein to its overall stability using three database-derived statistical potentials that are based on inter-residue distances, backbone torsion angles and solvent accessibility, respectively. Residues that contribute very unfavorably to the folding free energy are defined as stability weaknesses, whereas residues that show a highly stabilizing contribution are called stability strengths. Strengths and/or weaknesses on residues that are in spatial contact are clustered into 3-dimensional (3D) stability patches.

Thoracoscopic thoracic duct sealing with LigaSure in two children with refractory postoperative chylothorax.

Purpose: Chylothorax is an uncommon complication of cardiac surgery. We report two cases of the thoracoscopic management of persistent postoperative chylothorax by thoracic duct thermofusion and section with the LigaSure device.

Materials And Methods: A 6-year-old boy and a 3-year-old girl developed persistent chylothorax following an aortic coarctation repair and a Fontan procedure, respectively.

Laparoscopic partial splenectomy using radiofrequency ablation for nonparasitic splenic cysts in two children.

Nonparasitic splenic cysts are uncommon lesions, for which partial splenectomy offers a definitive treatment while preserving splenic function. We report the use of radiofrequency energy for laparoscopic partial splenectomy to treat two children with nonparasitic splenic cysts by creating a 1-cm thick coagulated parenchyma resection plane, allowing bloodless splenic transection. This approach spares the need for blood transfusions, reduces hospital stay, and offers great promise for partial splenectomy in children.

Traumatic duodenal necrosis with avulsion of Vater's papilla in a child.

Blunt duodenal trauma with avulsion of the papilla of Vater is an extremely uncommon injury in children. The usual management of these injuries relies on complex reconstructive procedures and bypasses. We report the case of a 6-year-old girl with near total traumatic duodenal necrosis and avulsion of Vater's papilla managed by a simple physiological montage avoiding pancreatic resections and gastrointestinal bypasses.

[Thoracoscopic surgery in children].

Thoracoscopy offers numerous diagnostic and therapeutic options in pediatric surgery. This paper reviews some of the principal thoracoscpic procedures performed in children. Thoracoscopy for empyema, pectus excavatum, chylothorax, etc.

Single-nucleotide promoter polymorphism alters transcription of neuronal nitric oxide synthase exon 1c in infantile hypertrophic pyloric stenosis.

Infantile hypertrophic pyloric stenosis (IHPS), characterized by enlarged pyloric musculature and gastric-outlet obstruction, is associated with altered expression of neuronal nitric oxide synthase (nNOS). Here we have studied molecular mechanisms by which nNOS gene expression is altered in pyloric tissues of 16 infants with IHPS and 9 controls. A significant decreased expression of total nNOS mRNA was found by quantitative RT-PCR in IHPS after normalization against GAPDH, which predominantly affected exon 1c with a reduction of 88% compared with controls (P < 0.

Achalasia of the cardia in Allgrove's (triple A) syndrome: histopathologic study of 10 cases.

Allgrove's syndrome, i.e., achalasia, addisonianism, alacrima (OMIM 231550) is an autosomal recessive disorder recently associated with the AAAS gene coding for the Aladin protein.

Kit-negative fibroblast-like cells expressing SK3, a Ca2+-activated K+ channel, in the gut musculature in health and disease.

The apamin-sensitive component of the inhibitory response of the gastrointestinal musculature involves the small conductance Ca(2+)-activated K(+) channel SK3. Kit-immunoreactive (ir) interstitial cells of Cajal appear to be involved in nitrergic inhibition while the role of the recently described CD34-ir fibroblast-like cells adjacent to, but distinct from, the cells of Cajal remains elusive. The distribution of SK3 was studied by immunohistochemistry in the normal human gut, in motility disorders with a lack of cells of Cajal (infantile hypertrophic pyloric stenosis and Hirschsprung's disease) and in mice deficient in cells of Cajal.

Distribution of the intermediate filament nestin in the muscularis propria of the human gastrointestinal tract.

The intermediate filament nestin is expressed in neural stem cells, neuroectodermal tumors and various adult tissues. In the gastrointestinal (GI) tract, nestin has been reported in glial cells. Recently, nestin has been reported in interstitial cells of Cajal (ICC) and in gastrointestinal stromal tumors, thought to derive from ICC.

The use of dipyridamole to wean from inhaled nitric oxide in congenital diaphragmatic hernia.

A full-term neonate with a left-sided congenital diaphragmatic hernia (CDH) was ventilated mechanically by high-frequency oscillatory ventilation (HFOV). Despite inhaled nitric oxide (iNO) at a dose of 15 ppm, the neonate had severe respiratory acidosis and was placed on extracorporeal membrane oxygenation (ECMO) for 2 days. On day 7 of life, surgical repair of the CDH was performed.

Morphological and neurochemical identification of enteric neurones with mucosal projections in the human small intestine.

Data on the axonal projections of enteric neurones in the human intestine are still scarce. The present study aimed to identify the morphology and neurochemical coding of enteric neurones in the human small intestine, which are involved in the innervation of the mucosa. The lipophilic neuronal tracer DiI was applied to one mucosal villus of small intestinal resection specimens.

Small-bowel perforation in very low birth weight neonates treated with high-dose dexamethasone.

Introduction: Early postnatal treatment with high doses of corticosteroids may be effective in reducing the duration of mechanical ventilation in very low birth weight infants at risk for bronchopulmonary dysplasia. However, serious side effects may occur.

Material And Methods: A retrospective study on 5 very low birth weight neonates, mean (+/- SEM): gestational age range 27.

CD34 immunoreactivity and interstitial cells of Cajal in the human and mouse gastrointestinal tract.

Immunoreactivity for the tyrosine kinase receptor Kit (Kit-ir) is an established marker for the interstitial cells of Cajal (ICC) of the gut. Recently, the presence of CD34 immunoreactivity (CD34-ir) has been reported in Kit-ir ICC around the myenteric plexus in human small intestine. Conversely, we observed that CD34-ir labeled Kit-negative fibroblast-like cells, closely adjacent to, but distinct from, the Kit-ir ICC.

Mutant WD-repeat protein in triple-A syndrome.

Triple-A syndrome (MIM 231550; also known as Allgrove syndrome) is an autosomal recessive disorder characterized by adrenocorticotropin hormone (ACTH)-resistant adrenal insufficiency, achalasia of the oesophageal cardia and alacrima. Whereas several lines of evidence indicate that triple-A syndrome results from the abnormal development of the autonomic nervous system, late-onset progressive neurological symptoms (including cerebellar ataxia, peripheral neuropathy and mild dementia) suggest that the central nervous system may be involved in the disease as well. Using fine-mapping based on linkage disequilibrium in North African inbred families, we identified a short ancestral haplotype on chromosome 12q13 (<1 cM), sequenced a BAC contig encompassing the triple-A minimal region and identified a novel gene (AAAS) encoding a protein of 547 amino acids that is mutant in affected individuals.

Linkage disequilibrium in inbred North African families allows fine genetic and physical mapping of triple A syndrome.

Triple A syndrome (Allgrove syndrome, MIM No. 231550) is a rare autosomal recessive disorder characterised by ACTH-resistant adrenal insufficiency, achalasia of the cardia, and alacrimia. The triple A gene has been previously mapped to chromosome 12q13 in a maximum interval of 6 cM between loci D12S1629 and D12S312.

CD34+ cells in human intestine are fibroblasts adjacent to, but distinct from, interstitial cells of Cajal.

Interstitial cells of Cajal (ICC) generate the pacemaker component of the gut and play important roles in the control of gut motility. The tyrosine kinase receptor Kit is an established marker for ICC. Recently, it has been reported that immunoreactivity for the sialomucin CD34 may be present on ICC in human intestine.

Delayed maturation of the interstitial cells of Cajal: a new diagnosis for transient neonatal pseudoobstruction. Report of two cases.

The case histories of two neonates presenting with intestinal pseudoobstruction are presented. One boy infant was premature and the girl infant was full term. Both patients needed a defunctioning ileostomy, and biopsy findings of the intestine in both patients showed a lack of interstitial cells of Cajal (ICC).

Nitric oxide synthase distribution in the enteric nervous system of children with cardiac achalasia.

Objective: To study the distribution of nitric oxide synthase (NOS) in the enteric nervous system of children with cardiac achalasia.

Methods: Biopsy specimens of the lower esophagus, cardia, gastric fundus and pylorus from 13 patients with cardiac achalasia and 6 controls were obtained and studied histochemically with nicotinamide adenine dinucleotide phosphate diaphorase (NADPH-d) and immunohistochemically with a specific polyclonal antiserum.

Results: NOS was abundant in the myenteric plexus and the nerve fibers of musculatures in the esophagus, cardia and gastric fundus in control group, while it was nearly absent in the patient group.

The pathology of infantile hypertrophic pyloric stenosis after healing.

Introduction: Infantile hypertrophic pyloric stenosis (IHPS) is a common surgical affection of unknown etiology. The muscular hypertrophy is known to resolve within a few months after pyloromyotomy (PM). The pathology of IHPS has been studied extensively at the time of PM, but the fate of the pylorus after healing remains unknown.

Interstitial cells of Cajal in human colon and in Hirschsprung's disease.

Background & Aims: Subpopulations of interstitial cells of Cajal are regarded as the source of spontaneous slow waves of the gut musculature (pacemaker cells). Their ontogeny remains unclear, but a role of the tyrosine kinase receptor c-kit in their development has recently been recognized. This study examined the interstitial cells in the human colon and in Hirschsprung's disease (aganglionosis).

Study of the interstitial cells of Cajal in infantile hypertrophic pyloric stenosis.

Background & Aims: The interstitial cells of Cajal form a network in close association with the smooth muscle of the gut. They are regarded as pacemaker cells and might be involved in motility disorders. Their distribution was studied in a common disorder with a dysfunction of the pyloric sphincter called infantile hypertrophic pyloric stenosis.

Pituitary adenylate cyclase activating peptide and its receptors are expressed in human neuroblastomas.

Vasoactive intestinal peptide (VIP) has been considered as an autocrine growth factor in neuroblastomas. Pituitary adenylate cyclase activating polypeptides (PACAPs) are newly recognized members of the VIP family of neurohormones. As compared to VIP, PACAP has been reported to be biologically more potent and more efficient in tissues expressing selective PACAP receptors rather than common VIP/PACAP receptors.