Oral-facial-digital type 1 syndrome

Author(s):  
Brunella Franco

This chapter discusses oral-facial-digital type 1 syndrome (OFD1), which represents a rare syndromic form of inherited renal cystic disease associated with dysfunction of primary cilia. The disease is transmitted as an X-linked dominant male lethal trait. Embryonic lethality in affected hemizygous males is usually reported in the first and second trimesters of pregnancy. The clinical spectrum for this disease includes malformation of the face, oral cavity, and digits with a high degree of phenotypic variability, even within the same family, possibly due to X-inactivation. Renal cystic disease is present in over 65% of adult cases and is usually observed in the second and third decades of life.

2019 ◽  
Vol 30 (10) ◽  
pp. 1841-1856 ◽  
Author(s):  
Kurt A. Zimmerman ◽  
Cheng J. Song ◽  
Zhang Li ◽  
Jeremie M. Lever ◽  
David K. Crossman ◽  
...  

BackgroundMutations affecting cilia proteins have an established role in renal cyst formation. In mice, the rate of cystogenesis is influenced by the age at which cilia dysfunction occurs and whether the kidney has been injured. Disruption of cilia function before postnatal day 12–14 results in rapid cyst formation; however, cyst formation is slower when cilia dysfunction is induced after postnatal day 14. Rapid cyst formation can also be induced in conditional adult cilia mutant mice by introducing renal injury. Previous studies indicate that macrophages are involved in cyst formation, however the specific role and type of macrophages responsible has not been clarified.MethodsWe analyzed resident macrophage number and subtypes during postnatal renal maturation and after renal injury in control and conditional Ift88 cilia mutant mice. We also used a pharmacological inhibitor of resident macrophage proliferation and accumulation to determine the importance of these cells during rapid cyst formation.ResultsOur data show that renal resident macrophages undergo a phenotypic switch from R2b (CD11clo) to R2a (CD11chi) during postnatal renal maturation. The timing of this switch correlates with the period in which cyst formation transitions from rapid to slow following induction of cilia dysfunction. Renal injury induces the reaccumulation of juvenile-like R2b resident macrophages in cilia mutant mice and restores rapid cystogenesis. Loss of primary cilia in injured conditional Ift88 mice results in enhanced epithelial production of membrane-bound CSF1, a cytokine that promotes resident macrophage proliferation. Inhibiting CSF1/CSF1-receptor signaling with a CSF1R kinase inhibitor reduces resident macrophage proliferation, R2b resident macrophage accumulation, and renal cyst formation in two mouse models of cystic disease.ConclusionsThese data uncover an important pathogenic role for resident macrophages during rapid cyst progression.


2018 ◽  
Vol 07 (02) ◽  
pp. 092-096
Author(s):  
Zuhal Kırzıoglu ◽  
Esra Oz

AbstractOral-facial-digital syndrome (OFDS) is a group of congenital anomalies with 13 different forms. OFDS type 1 (OFDS1) is a developmental genetic anomaly related to the X chromosome, that is often seen in girls, and affects the face, oral cavity, and extremities. In this study, we discuss the oral findings of a 6-year-old girl with OFDS1 and her situation after 2.5 years.


Pathogens ◽  
2020 ◽  
Vol 9 (10) ◽  
pp. 816
Author(s):  
John S. Munday ◽  
Michael R. Hardcastle ◽  
Melissa Sim

A 10-year-old horse presented with two 3-cm diameter exophytic masses over the fetlock. Histology was consistent with a hyperplastic squamous papilloma and numerous cell changes consistent with papillomavirus (PV) infection were visible. Partial sequences of PV L1 and E1 ORFs were amplified using consensus PCR primers. The sequences were most similar to Equus caballus type 1 (EcPV1). However, as the sequences were only around 73% similar to EcPV1, they appear to be from a novel PV type that is likely to be within the Zetapapillomavirus genus. The papillomas were treated with topical imiquimod and resolved within 14 weeks. The clinical presentation of the papillomas in the present case had marked differences to the clinical presentation of EcPV-1-induced papillomas, which are typically small, numerous and around the face. Observations from the present case increase the clinical spectrum of PV-induced lesions in this species as well as providing evidence of an additional novel papillomavirus that is able to cause disease in horses.


2003 ◽  
Vol 34 (4) ◽  
pp. 413-420 ◽  
Author(s):  
Edgar A Otto ◽  
Bernhard Schermer ◽  
Tomoko Obara ◽  
John F O'Toole ◽  
Karl S Hiller ◽  
...  

2008 ◽  
Vol 136 (Suppl. 4) ◽  
pp. 348-352
Author(s):  
Emilija Golubovic

Reseach during the past decade has led to the discovery that defects in some proteins that localize to primary cilia or the basal body are the main contributors to renal cyst development. Autosomal recessive polycystic disease and nephronophthisis-medullary cystic kidney disease are named ciliopathies. The cilium is a microtubule-based organelle that is found on most mammalian cells. Cilia-mediated hypothesis has evolved into the concept of cystogenesis, cilia bend by fluid initiate a calcium influx that prevents cyst formation. Cilia might sense stimuli in the cell enviroment and control cell polarity and mitosis. A new set of pathogenic mechanisms in renal cystic disease defined new therapeutic targets, control of intracellular calcium, inhibition of cAMP and down regulation cannonical Wnt signaling.


Author(s):  
G.J.C. Carpenter

In zirconium-hydrogen alloys, rapid cooling from an elevated temperature causes precipitation of the face-centred tetragonal (fct) phase, γZrH, in the form of needles, parallel to the close-packed <1120>zr directions (1). With low hydrogen concentrations, the hydride solvus is sufficiently low that zirconium atom diffusion cannot occur. For example, with 6 μg/g hydrogen, the solvus temperature is approximately 370 K (2), at which only the hydrogen diffuses readily. Shears are therefore necessary to produce the crystallographic transformation from hexagonal close-packed (hep) zirconium to fct hydride.The simplest mechanism for the transformation is the passage of Shockley partial dislocations having Burgers vectors (b) of the type 1/3<0110> on every second (0001)Zr plane. If the partial dislocations are in the form of loops with the same b, the crosssection of a hydride precipitate will be as shown in fig.1. A consequence of this type of transformation is that a cumulative shear, S, is produced that leads to a strain field in the surrounding zirconium matrix, as illustrated in fig.2a.


2021 ◽  
Vol 80 (Suppl 1) ◽  
pp. 1029.1-1029
Author(s):  
Y. Livshits ◽  
O. Teplyakova ◽  
A. Sarapulova

Background:Telemedicine counseling (TMC) has gained rapid development during the COVID-19 pandemic. The prospect of using this technology in rheumatology was based on the possibility of getting maximum information about the patient during the survey, examination and interpretation of laboratory and instrumental data, that is excepting direct contact with the patient. Several rheumatological clinics have reported on the success of using TMC. However, there is very little data of the difficulties that can be encountered when organizing this process.Objectives:To characterize the identified problems during TMC in rheumatology, to suggest potential directions for their elimination.Methods:Since June 2021, on the basis of the Medical Association “New Hospital”, Yekaterinburg, Russian Federation, 76 TMCs have been performed on the profile of rheumatology in patients aged 29 to 71 years. Of these, 13 applied to the primary TMC, the other patients were preliminarily examined in person. The consultation included the preliminary acquaintance with the examination results, a 20-minute video communication and writing of a conclusion. After each TMC, a survey was conducted between the doctor and the patient, including the identified deficiencies in counseling. The frequency of identified problems is presented as an absolute indicator and as a percentage of the total number of TMCs performed.Results:We noted a high degree of patient satisfaction: 74 (97.4%) responded that they received answers to all. However, according to the doctor, the following groups of problems were identified.[1]Technical problems in 29 (38.2%): most often there were various problems with the Internet, but there were also registered: the end of the charge on the patient’s tablet, the patient was not registered in the electronic queue. Elimination of these violations depends on the work of IT-specialists, but each consulting physician should be prepared for an immediate transition to an alternative form of communication (for example - telephone).[2]Lack of objective examination, leading to the impossibility of correct remote diagnosis - 8 (10.5%). This problem was identified due to the inability to establish the presence or absence of arthritis during the initial diagnosis (6 cases) and to clarify the nature of the rash (2 cases). All patients are invited for a face-to-face consultation.[3]The need to write prescriptions for psychotropic drugs - 12 (15.8%), which under the conditions of national legislation cannot be done in the TMC regime.[4]The time spent directly on remote communication with the patient was 17.2 minutes (from 8 to 31), however, taking into account the study data and writing the conclusion, the total time was 40.7 minutes (from 21 to 73). Thus, it turned out that the average time for remote and face-to-face consultations is the same, while TMC’s payment is only about 50% of the face-to-face consultation. This situation reduces the doctor’s interest in carrying out TMC. The solution to the problem is associated with reducing the time for the documentation process through technical improvements. In addition, of the 9 patients in whom the TMC process lasted 60 minutes or more, 5 were diagnosed with fibromyalgia. It is possible that with a previously established diagnosis of fibromyalgia, only face-to-face counseling should be recommended to patients.Conclusion:The TMC system is promising, however, there are a number of problems that need to be improved, since they can reduce the doctor’s interest in using this technology.Disclosure of Interests:None declared


1962 ◽  
Vol 40 (1) ◽  
pp. 7-12
Author(s):  
J. M. Langlois ◽  
Guy Lamarche

The projections of the trigeminal nerve in the pontine reticular formation of the cat have been investigated by recording unit activity, after physiological stimulation of the face, in 30 "encéphales isolés" preparations. No somatotopical arrangement was found but a high degree of spatial convergence onto pontine reticular units exists and a certain degree of functional organization was observed.


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