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Case Reports in Medicine 2013Background. Extrarenal pathologies may be associated with renal position and fusion anomalies. According to the literature, our patient is the first horseshoe kidney...
Background. Extrarenal pathologies may be associated with renal position and fusion anomalies. According to the literature, our patient is the first horseshoe kidney case that had mega cisterna magna, arachnodactyly, and mild mental retardation. Case Report. A 9-year-old boy admitted because of the myoclonic jerks. He had a dysmorphic face, low-set and cup-shaped ears, arachnodactyly, and mild mental retardation. The patient's laboratory findings were normal except for a mild leucocytosis and hypochromic microcytic anemia. His cerebrospinal fluid was cytologically and biochemically normal. Cranial MRI revealed 1.5 cm diametered mega cisterna magna in the retrocerebellar region. Although there were no significant epileptical discharges in the electroencephalography, there were slow wave discharges arising from the anterior regions of both hemispheres. Because he had stomachache, abdominal ultrasonography was performed, and horseshoe kidney was determined. Abdominal CT did not reveal any abnormalities except the horseshoe kidney. There were not any cardiac pathologies in echocardiography. He had normal 46XY karyotype and there were no repeated chromosomal derangements, but we could not evaluate for molecular and submicroscopic somatic changes. He was treated with valproic acid and myoclonic jerks did not repeat. Conclusion. We suggest that the presence of these novel findings may represent a newly recognized, separate syndrome.
PubMed: 23762068
DOI: 10.1155/2013/149656 -
Journal of Medical Genetics Dec 2000
Comparative Study
Topics: Child; Chromosomes, Human, Pair 10; Chromosomes, Human, Pair 2; Female; Humans; Male; Marfan Syndrome; Nuclear Family; Translocation, Genetic; Trisomy
PubMed: 11186945
DOI: 10.1136/jmg.37.12.974 -
Annals of Translational Medicine Oct 2022Marfan syndrome (MFS) is a connective tissue disorder involving multiple organs. The most severe complications include aortic root dilatation and dissection. In the...
BACKGROUND
Marfan syndrome (MFS) is a connective tissue disorder involving multiple organs. The most severe complications include aortic root dilatation and dissection. In the present report, we provide an uncommon case of acute aortic Stanford type A dissection (AADA) repair with severe scoliosis in an MFS patient and it is even more rare for such surgical treatment to be successfully completed along with holistic management that enables the patient to recover successfully. We offer a reference for future surgical therapy since the specific surgical treatment methods in this case have not been reported in the literature.
CASE DESCRIPTION
A 40-year-old Chinese female with MFS was rushed to our surgical clinic due to the sudden onset of intense chest pain. Physical examination revealed a diastolic murmur at the aortic valve area, increased arm and pectus carinatum deformity, severe scoliosis, acromicria, arachnodactyly, and planovalgus foot. Subsequently, AADA was discovered through computed tomography scan. In addition, echocardiogram revealed moderate aortic regurgitation and hydropericardium in small amount. Based on revised Ghent criteria, the patient was diagnosed with MFS complicated with aortic dissection. Emergency surgery was successfully performed for repair of the patient's aortic dissection and the diseased aortic valve. Postoperatively, the patient presented with a degree of respiratory insufficiency. However, the respiratory function was not greatly impaired, with good early intervention, such as taking deep breaths and coughing fully, active sputum suction, effective analgesia, ambulation and treadmill exercise. The patient finally recovered completely and was discharged 3 weeks later.
CONCLUSIONS
We reported on a patient with severe scoliosis who successfully underwent surgical repair of AADA. Our report shows that the application of standard median sternotomy for repairing AADA offers the feasibility of implementation, on the basis of effectively solving various practical problems in the surgery brought about by scoliosis. It has been thoroughly assessed and addressed how the postoperative condition of such patients affects subsequent respiratory function and postoperative recovery. This report further provides a successful clinical reference for the implementation of this type of surgery and the postoperative management of respiratory function.
PubMed: 36388824
DOI: 10.21037/atm-22-4302 -
European Journal of Human Genetics :... Dec 2015Brachydactyly type A1 is an autosomal dominant disorder primarily characterized by hypoplasia/aplasia of the middle phalanges of digits 2-5. Human and mouse genetic...
Brachydactyly type A1 is an autosomal dominant disorder primarily characterized by hypoplasia/aplasia of the middle phalanges of digits 2-5. Human and mouse genetic perturbations in the BMP-SMAD signaling pathway have been associated with many brachymesophalangies, including BDA1, as causative mutations in IHH and GDF5 have been previously identified. GDF5 interacts directly as the preferred ligand for the BMP type-1 receptor BMPR1B and is important for both chondrogenesis and digit formation. We report pathogenic variants in BMPR1B that are associated with complex BDA1. A c.975A>C (p.(Lys325Asn)) was identified in the first patient displaying absent middle phalanges and shortened distal phalanges of the toes in addition to the significant shortening of middle phalanges in digits 2, 3 and 5 of the hands. The second patient displayed a combination of brachydactyly and arachnodactyly. The sequencing of BMPR1B in this individual revealed a novel c.447-1G>A at a canonical acceptor splice site of exon 8, which is predicted to create a novel acceptor site, thus leading to a translational reading frameshift. Both mutations are most likely to act in a dominant-negative manner, similar to the effects observed in BMPR1B mutations that cause BDA2. These findings demonstrate that BMPR1B is another gene involved with the pathogenesis of BDA1 and illustrates the continuum of phenotypes between BDA1 and BDA2.
Topics: Animals; Base Sequence; Bone Morphogenetic Protein Receptors, Type I; Brachydactyly; Cells, Cultured; Exons; Female; Humans; Infant; Male; Mice; Molecular Sequence Data; Mutation, Missense
PubMed: 25758993
DOI: 10.1038/ejhg.2015.38 -
Developmental Biology Jan 2007Fibrillin-based human diseases such as Marfan syndrome and congenital contractural arachnodactyly implicate fibrillins in the function and homeostasis of multiple adult...
Fibrillin-based human diseases such as Marfan syndrome and congenital contractural arachnodactyly implicate fibrillins in the function and homeostasis of multiple adult tissues. Fibrillins are also expressed in embryos, but no early developmental role has been described for these proteins. We use three independent methods to reveal a role for Xenopus fibrillin (XF) at gastrulation. First, expressing truncated forms of XF in the embryo leads to failure of gastrulation concomitant with a dominant-negative effect on native fibrillin fibril assembly. Expressing truncated XF also inhibits normal progression of the patterned, polarized cell motility that drives convergence and extension at gastrulation and perturbs directed extension in cultured explants of dorsal mesoderm. Second, injection of a synthetic peptide encoding a cell-binding domain of XF into midgastrula embryos causes acute failure of gastrulation associated with defective fibrillin fibril assembly. These injections also reveal a critical role for this peptide in the fibril assembly process. Third, morpholino-mediated knockdown of translation of XF in the embryo also perturbs normal gastrulation and directed extension. Together, these data show that native Xenopus fibrillin is essential for the process of directed convergent extension in presumptive notochord at gastrulation.
Topics: Amino Acid Sequence; Animals; Convergence, Ocular; Embryo, Nonmammalian; Fibrillins; Gastrula; Gene Deletion; Gene Expression Regulation, Developmental; Humans; Microfilament Proteins; Molecular Sequence Data; Mutation; Peptide Fragments; Phenotype; Protein Biosynthesis; Xenopus laevis
PubMed: 17027959
DOI: 10.1016/j.ydbio.2006.09.005 -
Respiratory Care Aug 2012A 27-year-old woman was admitted to our ICU with acute hypoxemic respiratory failure and criteria for ARDS. Despite an F(IO(2)) of 1.0 and a lung protective strategy,... (Review)
Review
A 27-year-old woman was admitted to our ICU with acute hypoxemic respiratory failure and criteria for ARDS. Despite an F(IO(2)) of 1.0 and a lung protective strategy, the patient died on day 15 without any improvement. The relatives gave consent for post-mortem analysis. The histopathologic study of the lung showed findings typical of an acute fibrinous and organizing pneumonia. Apropos of this case we performed a PubMed search. We found 13 articles, including a total of 29 patients. Acute fibrinous and organizing pneumonia is an unusual cause of acute lung injury. The diagnostic criterion is histopathologic. There is little information regarding the pathophysiology of this illness. Important questions remain regarding this disease, including predisposing factors and management. Patients who require mechanical ventilation have poor outcomes.
Topics: Abnormalities, Multiple; Adult; Arachnodactyly; Blepharophimosis; Connective Tissue Diseases; Contracture; Cryptogenic Organizing Pneumonia; Fatal Outcome; Female; Humans; Pulmonary Fibrosis; Respiration, Artificial; Respiratory Distress Syndrome
PubMed: 22348347
DOI: 10.4187/respcare.01452 -
Cureus Jul 2021Congenital contractural arachnodactyly (CCA) is a rare connective tissue disorder that has several phenotypic similarities to Marfan syndrome. Among the phenotypic...
Congenital contractural arachnodactyly (CCA) is a rare connective tissue disorder that has several phenotypic similarities to Marfan syndrome. Among the phenotypic characteristics of patients with CCA, severe kyphoscoliosis and thoracic cage abnormalities are commonly reported. In this case report, we describe a patient with coexisting CCA and severe pectus excavatum requiring multiple surgical repairs. The impact severe scoliosis and pectus excavatum in isolation have on cardiopulmonary anatomy and physiology can be significant, and their effects can be profound concomitantly. These defects have the propensity of causing restrictive lung disease and external cardiac compression.
PubMed: 34466327
DOI: 10.7759/cureus.16701 -
American Journal of Medical Genetics.... Aug 201822q11.2 deletion syndrome (22q11.2DS) is associated with high rates of anxiety disorders, psychotic disorders, and other psychiatric conditions. In the general...
22q11.2 deletion syndrome (22q11.2DS) is associated with high rates of anxiety disorders, psychotic disorders, and other psychiatric conditions. In the general population, psychiatric disorders are treated with proven pharmacological and non-pharmacological therapies, such as cognitive behavioral therapy (CBT). To begin to assess the feasibility and efficacy of non-pharmacological therapies in 22q11.2DS, we performed a systematic search to identify literature on non-pharmacological interventions for psychiatric disorders in individuals with 22q11.2DS. Of 1,240 individual publications up to mid-2016 initially identified, 11 met inclusion criteria. There were five literature reviews, five publications reporting original research (two originating from a single study), and one publication not fitting either category that suggested adaptations to an intervention without providing scientific evidence. None of the original research involved direct study of the evidence-based non-pharmacological therapies available for psychiatric disorders. Rather, these four studies involved computer-based or group interventions aimed at improving neuropsychological deficits that may be associated with psychiatric disorders. Although the sample sizes were relatively small (maximum 28 participants in the intervention group), these reports documented the promising feasibility of these interventions, and improvements in domains of neuropsychological functioning, including working memory, attention, and social cognition. The results of this review underline the need for research into the feasibility and efficacy of non-pharmacological treatments of psychiatric disorders in individuals with 22q11.2DS to inform clinical care, using larger samples, and optimally, standard randomized, placebo-controlled, clinical trials methodology.
Topics: Adult; Arachnodactyly; Cognitive Behavioral Therapy; Craniosynostoses; DiGeorge Syndrome; Female; Humans; Male; Marfan Syndrome; Psychotic Disorders
PubMed: 29363845
DOI: 10.1002/ajmg.a.38612 -
PLoS Biology Sep 2023Optogenetic actuators have revolutionized the resolution at which biological processes can be controlled. In plants, deployment of optogenetics is challenging due to the...
Optogenetic actuators have revolutionized the resolution at which biological processes can be controlled. In plants, deployment of optogenetics is challenging due to the need for these light-responsive systems to function in the context of horticultural light environments. Furthermore, many available optogenetic actuators are based on plant photoreceptors that might crosstalk with endogenous signaling processes, while others depend on exogenously supplied cofactors. To overcome such challenges, we have developed Highlighter, a synthetic, light-gated gene expression system tailored for in planta function. Highlighter is based on the photoswitchable CcaS-CcaR system from cyanobacteria and is repurposed for plants as a fully genetically encoded system. Analysis of a re-engineered CcaS in Escherichia coli demonstrated green/red photoswitching with phytochromobilin, a chromophore endogenous to plants, but also revealed a blue light response likely derived from a flavin-binding LOV-like domain. We deployed Highlighter in transiently transformed Nicotiana benthamiana for optogenetic control of fluorescent protein expression. Using light to guide differential fluorescent protein expression in nuclei of neighboring cells, we demonstrate unprecedented spatiotemporal control of target gene expression. We implemented the system to demonstrate optogenetic control over plant immunity and pigment production through modulation of the spectral composition of broadband visible (white) light. Highlighter is a step forward for optogenetics in plants and a technology for high-resolution gene induction that will advance fundamental plant biology and provide new opportunities for crop improvement.
Topics: Optogenetics; Nicotiana; Arachnodactyly; Escherichia coli; Gene Expression
PubMed: 37733664
DOI: 10.1371/journal.pbio.3002303 -
BMJ Case Reports Jun 2014Marfan syndrome (MFS) is a genetic disorder of the connective tissue which rarely manifests in the neonatal period and has an ominous prognosis. A case of a first female...
Marfan syndrome (MFS) is a genetic disorder of the connective tissue which rarely manifests in the neonatal period and has an ominous prognosis. A case of a first female offspring of healthy parents is described here. The pregnancy was uneventful and the mother had a term caesarean delivery. At birth, some dysmorphic signs became apparent, such as loose redundant skin, dolichocephaly, frontal bossing, deeply sunken eyes, micrognathia, contractures of the elbows, arachnodactyly and hip dysplasia. The echocardiogram showed a mitral and tricuspid valve regurgitation and a long aortic arch. The diagnosis of neonatal MFS came forward and genetic studies revealed a de novo mutation in the fibrillin 1 (FBN1) gene. At 6 months, due to a progressive worsening of the cardiac pathology, she was submitted to mitral valvuloplasty. She is now 2 years and 10 months old, which is a remarkable feat for a child suffering from this condition.
Topics: Aorta, Thoracic; Female; Fibrillin-1; Fibrillins; Humans; Infant, Newborn; Marfan Syndrome; Microfilament Proteins; Mitral Valve Insufficiency; Mutation; Patient Care Team; Tricuspid Valve Insufficiency; Ultrasonography
PubMed: 24928929
DOI: 10.1136/bcr-2013-202438