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Revista Espanola de Enfermedades... Mar 2022An 85-year-old female with situs inversus totalis was admitted due to obstructive jaundice, secondary to multiple choledocholithiasis and distal biliary stenosis due to...
An 85-year-old female with situs inversus totalis was admitted due to obstructive jaundice, secondary to multiple choledocholithiasis and distal biliary stenosis due to adenocarcinoma of the head of the pancreas, with duodenal infiltration and metastatic liver disease. An endoscopic retrograde cholangiopancreatography (ERCP) was attempted in the supine position but bile duct cannulation was not possible due to duodenal infiltration. Finally, a palliative biliary stent was placed percutaneously, with resolution of the jaundice.
Topics: Aged, 80 and over; Cholangiopancreatography, Endoscopic Retrograde; Choledocholithiasis; Duodenum; Female; Humans; Jaundice, Obstructive; Situs Inversus
PubMed: 34696595
DOI: 10.17235/reed.2021.8374/2021 -
The Canadian Veterinary Journal = La... Aug 2023. A 3-year-old female dog was referred for exploration of a murmur concomitant with lethargy. An echocardiogram reveals an inversion of the position of the cardiac...
. A 3-year-old female dog was referred for exploration of a murmur concomitant with lethargy. An echocardiogram reveals an inversion of the position of the cardiac chambers and the presence of an interventricular communication. A computed tomography examination of the thorax and abdomen highlights the known cardiac abnormalities as well as the association of a complete . The clinical examination also reveals ocular malformations (deviation of the eyeballs and asymmetry of the fundus). This article highlights the variety of abnormalities that can be associated with the complete inversion of the organs and demonstrates that there may be variants to the more classic picture usually encountered in humans (respiratory manifestations related to Kartagener syndrome).(Translated by D Serge Messier).
Topics: Humans; Female; Dogs; Animals; Situs Inversus; Kartagener Syndrome; Heart Septal Defects, Ventricular; Tomography, X-Ray Computed; Dog Diseases
PubMed: 37529390
DOI: No ID Found -
The New England Journal of Medicine Nov 2023
Topics: Female; Humans; Pregnancy; COVID-19; SARS-CoV-2; Situs Inversus; Gestational Age; Prenatal Diagnosis
PubMed: 37913512
DOI: 10.1056/NEJMc2309215 -
Nature Communications Nov 2020Axonemal dynein ATPases direct ciliary and flagellar beating via adenosine triphosphate (ATP) hydrolysis. The modulatory effect of adenosine monophosphate (AMP) and...
Axonemal dynein ATPases direct ciliary and flagellar beating via adenosine triphosphate (ATP) hydrolysis. The modulatory effect of adenosine monophosphate (AMP) and adenosine diphosphate (ADP) on flagellar beating is not fully understood. Here, we describe a deficiency of cilia and flagella associated protein 45 (CFAP45) in humans and mice that presents a motile ciliopathy featuring situs inversus totalis and asthenospermia. CFAP45-deficient cilia and flagella show normal morphology and axonemal ultrastructure. Proteomic profiling links CFAP45 to an axonemal module including dynein ATPases and adenylate kinase as well as CFAP52, whose mutations cause a similar ciliopathy. CFAP45 binds AMP in vitro, consistent with structural modelling that identifies an AMP-binding interface between CFAP45 and AK8. Microtubule sliding of dyskinetic sperm from Cfap45 mice is rescued with the addition of either AMP or ADP with ATP, compared to ATP alone. We propose that CFAP45 supports mammalian ciliary and flagellar beating via an adenine nucleotide homeostasis module.
Topics: Adenine Nucleotides; Adolescent; Adult; Animals; Asthenozoospermia; Axoneme; CRISPR-Cas Systems; Cilia; Cytoskeletal Proteins; DNA Mutational Analysis; Disease Models, Animal; Epididymis; Female; Flagella; Humans; Loss of Function Mutation; Male; Mice; Mice, Knockout; Middle Aged; Planarians; Respiratory Mucosa; Situs Inversus; Sperm Motility; Tomography, X-Ray Computed; Exome Sequencing
PubMed: 33139725
DOI: 10.1038/s41467-020-19113-0 -
Clinics in Chest Medicine Sep 2016Primary ciliary dyskinesia (PCD) is a recessive genetically heterogeneous disorder of motile cilia with chronic otosinopulmonary disease and organ laterality defects in... (Review)
Review
Primary ciliary dyskinesia (PCD) is a recessive genetically heterogeneous disorder of motile cilia with chronic otosinopulmonary disease and organ laterality defects in ∼50% of cases. The prevalence of PCD is difficult to determine. Recent diagnostic advances through measurement of nasal nitric oxide and genetic testing has allowed rigorous diagnoses and determination of a robust clinical phenotype, which includes neonatal respiratory distress, daily nasal congestion, and wet cough starting early in life, along with organ laterality defects. There is early onset of lung disease in PCD with abnormal airflow mechanics and radiographic abnormalities detected in infancy and early childhood.
Topics: Administration, Inhalation; Administration, Intranasal; Adrenal Cortex Hormones; Anti-Bacterial Agents; Breath Tests; Chronic Disease; Cilia; Cough; Endoscopy; Genetic Testing; Heterotaxy Syndrome; Humans; Kartagener Syndrome; Middle Ear Ventilation; Nasal Lavage; Nitric Oxide; Otitis Media; Phenotype; Respiratory Distress Syndrome, Newborn; Saline Solution, Hypertonic; Sinusitis; Situs Inversus
PubMed: 27514592
DOI: 10.1016/j.ccm.2016.04.008 -
Zhong Nan Da Xue Xue Bao. Yi Xue Ban =... Jan 2022Primary ciliary dyskinesia (PCD) is a hereditary disease characterized by airway mucociliary clearance dysfunction. The estimated prevalence of PCD is 1꞉10 000 to...
Primary ciliary dyskinesia (PCD) is a hereditary disease characterized by airway mucociliary clearance dysfunction. The estimated prevalence of PCD is 1꞉10 000 to 1꞉20 000. The main respiratory manifestations in children are cough, expectoration, chronic rhinitis, sinusitis, and chronic otitis media, while the most common symptoms in adults are chronic sinusitis, bronchiectasis, and infertility. About 50% of patients with certain PCD-related gene variants are combined with situs inversus, and the incidence of congenital heart disease is also high. The pathogenesis behind PCD is that gene variants cause structural or functional disorders of respiratory cilia and motile cilia of other organs, leading to a series of heterogeneous clinical manifestations, which makes it difficult to identify and diagnose PCD. Combining different disease screening tools and understanding the relationship between genotypes and phenotypes may facilitate early diagnosis and treatment for PCD.
Topics: Chronic Disease; Cilia; Humans; Kartagener Syndrome; Phenotype; Sinusitis
PubMed: 35545371
DOI: 10.11817/j.issn.1672-7347.2022.210379 -
Revista Portuguesa de Cardiologia Jul 2020Congenitally corrected transposition of the great arteries (ccTGA) is a rare congenital heart defect. There are different subgroups according to the location of the...
INTRODUCTION
Congenitally corrected transposition of the great arteries (ccTGA) is a rare congenital heart defect. There are different subgroups according to the location of the heart in the thorax, apical position and situs.
OBJECTIVES
The purpose of this study was to assess pediatric patients with situs inversus (SI) ccTGA (SI-ccTGA), a rare subgroup of this condition, in detail.
METHODS
The records of patients with SI-ccTGA followed between January 1, 2010 and January 1, 2019 in our clinic were analyzed retrospectively. Demographic features, associated cardiac defects, arrhythmias and follow-up data were recorded.
RESULTS
Twenty-one out of 120 ccTGA patients had SI. The median age was 30 months (4 days-18 years). There were hemodynamically significant associated lesions in 85.7% (n=18) of the patients. A large ventricular septal defect was found in 16 patients (76.2%), severe pulmonary stenosis in 11 (52.4%), pulmonary atresia in six (28.5%), and severe tricuspid regurgitation in two (9.5%). Eleven out of 21 patients had biventricular physiology and eight had single-ventricle physiology. Bidirectional cavopulmonary anastomosis followed by a hemi-Mustard-Rastelli operation were planned for the remaining two patients. Twelve out of 18 patients with associated defects (66.6%) were operated and surgery was planned for three more patients (16.6%). The remaining three patients were scheduled for clinical follow-up. Arrhythmias developed in two (9.5%) patients on follow-up; ablation was performed in one of them and pacemaker implantation followed by cardiac resynchronization therapy was performed in the other. Two patients died during follow-up, one after a central shunt operation and the other preoperatively due to pneumonia and sepsis.
CONCLUSION
SI-ccTGA is not a mirror image of situs solitus ccTGA (SS-ccTGA) due to important anatomic and physiologic differences between them. SI-ccTGA patients have a lower risk of tricuspid valve regurgitation than SS-ccTGA patients. The timing of clinical presentation of these patients mainly depends on the type and severity of the associated lesions, as in all subtypes of ccTGA.
Topics: Arteries; Child; Child, Preschool; Congenitally Corrected Transposition of the Great Arteries; Humans; Retrospective Studies; Situs Inversus; Transposition of Great Vessels
PubMed: 32682571
DOI: 10.1016/j.repc.2019.09.017 -
European Journal of Human Genetics :... Jan 2020Ciliopathy disorders due to abnormalities of motile cilia encompass a range of autosomal recessive conditions typified by chronic otosinopulmonary disease, infertility,...
Ciliopathy disorders due to abnormalities of motile cilia encompass a range of autosomal recessive conditions typified by chronic otosinopulmonary disease, infertility, situs abnormalities and hydrocephalus. Using a combination of genome-wide SNP mapping and whole exome sequencing (WES), we investigated the genetic cause of a form of situs inversus (SI) and male infertility present in multiple individuals in an extended Amish family, assuming that an autosomal recessive founder variant was responsible. This identified a single shared (2.34 Mb) region of autozygosity on chromosome 15q21.3 as the likely disease locus, in which we identified a single candidate biallelic frameshift variant in MNS1 [NM_018365.2: c.407_410del; p.(Glu136Glyfs*16)]. Genotyping of multiple family members identified randomisation of the laterality defects in other homozygous individuals, with all wild type or MNS1 c.407_410del heterozygous carriers being unaffected, consistent with an autosomal recessive mode of inheritance. This study identifies an MNS1 variant as a cause of laterality defects and male infertility in humans, mirroring findings in Mns1-deficient mice which also display male infertility and randomisation of left-right asymmetry of internal organs, confirming a crucial role for MNS1 in nodal cilia and sperm flagella formation and function.
Topics: Adult; Aged; Female; Frameshift Mutation; Humans; Infertility, Male; Male; Middle Aged; Pedigree; Polymorphism, Single Nucleotide; Situs Inversus
PubMed: 31534215
DOI: 10.1038/s41431-019-0489-z -
The Journal of Pathology Nov 2004There are at least eight categories of cilia in the human body and malfunctioning of any one or several of them will have different consequences for the patient. A... (Review)
Review
There are at least eight categories of cilia in the human body and malfunctioning of any one or several of them will have different consequences for the patient. A genetic error of the respiratory cilia (9 + 2) is the cause of the airways disease named immotile-cilia syndrome (or PCD), whereas defective ependymal cilia (9 + 2) carries an increased risk of hydrocephalus. When the so-called nodal cilia (9 + 0) of the early embryo are malfunctioning, there is a random determination of asymmetry of the heart and visceral organs ('a 50% risk of situs inversus'). Some genes are responsible for the synthesis, transport, and assembly of the cilia, and mutations in these genes may lead to progressive degeneration of ciliary structures, such as the connecting cilium (9 + 0) of the photoreceptor cells-this is the cause of retinitis pigmentosa. Ciliary malfunctions due to genetic errors tend to be systemic and life-long, whereas acquired diseases are local and may be temporary only.
Topics: Cilia; Ciliary Motility Disorders; Cytoskeleton; Female; Humans; Hydrocephalus; Infertility, Female; Infertility, Male; Male; Olfaction Disorders; Respiratory Tract Infections; Retinitis Pigmentosa; Situs Inversus
PubMed: 15495266
DOI: 10.1002/path.1652 -
Brain Structure & Function May 2018Magnetic resonance imaging was used to investigate brain structural and functional asymmetries in 15 participants with complete visceral reversal (situs inversus...
Magnetic resonance imaging was used to investigate brain structural and functional asymmetries in 15 participants with complete visceral reversal (situs inversus totalis, SIT). Language-related brain structural and functional lateralization of SIT participants, including peri-Sylvian gray and white matter asymmetries and hemispheric language dominance, was similar to those of 15 control participants individually matched for sex, age, education, and handedness. In contrast, the SIT cohort showed reversal of the brain (Yakovlevian) torque (occipital petalia and occipital bending) compared to the control group. Secondary findings suggested different asymmetry patterns between SIT participants with (n = 6) or without (n = 9) primary ciliary dyskinesia (PCD, also known as Kartagener syndrome) although the small sample sizes warrant cautious interpretation. In particular, reversed brain torque was mainly due to the subgroup with PCD-unrelated SIT and this group also included 55% left handers, a ratio close to a random allocation of handedness. We conclude that complete visceral reversal has no effect on the lateralization of brain structural and functional asymmetries associated with language, but seems to reverse the typical direction of the brain torque in particular in participants that have SIT unrelated to PCD. The observed differences in asymmetry patterns of SIT groups with and without PCD seem to suggest that symmetry breaking of visceral laterality, brain torque, and language dominance rely on different mechanisms.
Topics: Adolescent; Adult; Aged; Analysis of Variance; Brain; Brain Mapping; Cohort Studies; Female; Functional Laterality; Humans; Image Processing, Computer-Assisted; Language; Magnetic Resonance Imaging; Male; Middle Aged; Oxygen; Situs Inversus; Young Adult
PubMed: 29302744
DOI: 10.1007/s00429-017-1598-5