IL11RA-related Crouzon-like autosomal recessive craniosynostosis in 10 new patients: Resemblances and differences.

By describing 10 new patients recruited in centres for Human Genetics, we further delineate the clinical spectrum of a Crouzon-like craniosynostosis disorder, officially termed craniosynostosis and dental anomalies (MIM614188). Singularly, it is inherited according to an autosomal recessive mode of inheritance. We identified six missense mutations in IL11RA, a gene encoding the alpha subunit of interleukin 11 receptor, 4 of them being novel, including 2 in the Ig-like C2-type domain. A subset of patients had an associated connective tissue disorder with joint hypermobility and intervertebral discs fragility. A smaller number of teeth anomalies than that previously reported in the two large series of patients evaluated in dental institutes points toward an ascertainment bias.

Audiological phenotyping evaluation in KBG syndrome: Description of a multicenter review.

OBJECTIVES: Our objective was to reinforce clinical knowledge of hearing impairment in KBG syndrome. KBG syndrome is a rare genetic disorder due to monoallelic pathogenic variations of ANKRD11.The typical phenotype includes facial dysmorphism, costal and spinal malformation and developmental delay. Hearing loss in KBG patients has been reported for many years, but no study has evaluated audiological phenotyping from a clinical and an anatomical point of view. METHODS: This French multicenter study included 32 KBG patients with retrospective collection of data on audiological features, ear imaging and genetic investigations. RESULTS: We identified a typical audiological profil in KBG syndrome: conductive (71%), bilateral (81%), mild to moderate (84%) and stable (69%) hearing loss, with some audiological heterogeneity. Among patients with an abnormality on CT imaging (55%), ossicular chain impairment (67%), fixation of the stapes footplate (33%) and inner-ear malformations (33%) were the most common abnormalities. CONCLUSION: We recommend a complete audiological and radiological evaluation and an ENT-follow up in all patients presenting with KBG Syndrome. Imaging evaluation is necessary to determine the nature of lesions in the middle and inner ear.

SATB2-associated syndrome: characterization of skeletal features and of bone fragility in a prospective cohort of 19 patients.

BACKGROUND: Individuals with pathogenic variants in SATB2 display intellectual disability, speech and behavioral disorders, dental abnormalities and often features of Pierre Robin sequence. SATB2 encodes a transcription factor thought to play a role in bone remodeling. The primary aim of our study was to systematically review the skeletal manifestations of SATB2-associated syndrome. For this purpose, we performed a non-interventional, multicenter cohort study, from 2017 to 2018. We included 19 patients, 9 females and 10 males ranging in age from 2 to 19 years-old. The following data were collected prospectively for each patient: clinical data, bone markers and calcium and phosphate metabolism parameters, skeletal X-rays and bone mineral density. RESULTS: Digitiform impressions were present in 8/14 patients (57%). Vertebral compression fractures affected 6/17 patients (35%). Skeletal demineralization (16/17, 94%) and cortical thinning of vertebrae (15/17) were the most frequent radiological features at the spine. Long bones were generally demineralized (18/19). The distal phalanges were short, thick and abnormally shaped. C-telopeptide (CTX) and Alkaline phosphatase levels were in the upper normal values and osteocalcin and serum procollagen type 1 amino-terminal propeptide (P1NP) were both increased. Vitamin D insufficiency was frequent (66.7%). CONCLUSION: We conclude that SATB2 pathogenic variants are responsible for skeletal demineralization and osteoporosis. We found increased levels of bone formation markers, supporting the key role of SATB2 in osteoblast differentiation. These results support the need for bone evaluation in children and adult patients with SATB2-associated syndrome (SAS).

Clinical, molecular, and genotype-phenotype correlation studies from 25 cases of oral-facial-digital syndrome type 1: a French and Belgian collaborative study.

Oral-facial-digital syndrome type 1 (OFD1) is characterised by an X linked dominant mode of inheritance with lethality in males. Clinical features include facial dysmorphism with oral, tooth, and distal abnormalities, polycystic kidney disease, and central nervous system malformations. Large interfamilial and intrafamilial clinical variability has been widely reported, and 18 distinct mutations have been previously reported within OFD1. A French and Belgian collaborative study collected 25 cases from 16 families. OFD1 was analysed using direct sequencing and phenotype-genotype correlation was performed using chi2 test. X inactivation studies were performed on blood lymphocytes. In 11 families, 11 novel mutations, including nine frameshift, one nonsense, and one missense mutation were identified, which spanned nine different exons. A combination of our results with previously reported cases showed that the majority of mutations (65.5%) was located in exons 3, 8, 9, 13, and 16. There was phenotype-genotype correlation between (a) polycystic kidney disease and splice mutations; (b) mental retardation and mutations located in exons 3, 8, 9, 13, and 16; and (c) tooth abnormalities and mutations located in coiled coil domains. Comparing the phenotype of the families with a pathogenic mutation to families with absence of OFD1 mutation, polycystic kidneys and short stature were significantly more frequent in the group with no OFD1 mutation, whereas lingual hamartomas were significantly more frequent in the group with OFD1 mutation. Finally, an X inactivation study showed non-random X inactivation in a third of the samples. Differential X inactivation between mothers and daughters in two families with high intrafamilial variability was of particular interest. Slight phenotype-genotype correlations were established, and X inactivation study showed that skewed X inactivation could be partially involved in the pathogenesis of intrafamilial clinical variability.

Transient diplopia from a posterior alveolar injection.

Several anatomical vascular pathways have been proposed to explain oculomotor disturbances observed after injection of local dental anesthetics. The author suggests another possible pathway to account for the unusual clinical observations described in this report.

Bone-marrow biopsy needle incorporating a snare-coil specimen-capturing device: description and preclinical studies.

A tissue biopsy needle maximizes adequate specimen retrieval and minimizes patient pain and tissue disruption. The proposed biopsy needle incorporates an internal snare-coil for capturing specimens. The snare-coil device is described along with needle durability and performance testing. Sharply cut, nonfragmented, cored specimens were retrieved from a resin-based foam. In clinical practice, the snare-coil technology may minimize post-insertion needle manipulations and patient pain. Further studies are required to determine the impact of snare-coil needles on the retrieval of adequate specimens from patients.

The dental referral process. New insights.

Doctor-patient, doctor-doctor dental relationships are discussed. The dental referral process is a triad of patient, general practitioner and specialist and, in many ways, is dependent upon Freud's concept of transference-countertransference. The unconscious distortions of this process may affect the patient's treatment, as well as interpersonal and intraprofessional relationships.

Transient diplopia as a result of block injections. Mandibular and posterior superior alveolar.

Anesthetic "accidents" can and do happen as a result of maxillary and/or mandibular injections. The family practitioner has little or no control now. The anatomical pathways are discussed, but are not clear.

Experimental study comparing meshes made of polypropylene, polypropylene + polyglactin and polypropylene + titanium: inflammatory cytokines, histological changes and morphometric analysis of collagen.

PURPOSE: Incisional hernia occurs in approximately 11% of all laparotomies. Changes in collagen have been closely implicated in its pathogenesis. The high recurrence rate (45-54%) after primary suture has stimulated the development of meshes. Currently, meshes are the biomaterials implant group most used in medicine. This study aims to compare the serum and tissue inflammatory responses and collagen deposition caused by meshes made of polypropylene, polypropylene + polyglactin and polypropylene + titanium. METHODS: Thirty Wistar rats were divided into three groups. In group I, a high-density polypropylene mesh was positioned on the abdominal wall. In groups II and III, low-density meshes were used in associations with polyglactin and titanium, respectively. Immediately before the operation and on the first, third and fortieth postoperative days, pro-inflammatory cytokines were assayed. On the 40th postoperative day, the region of the inserted prosthesis was biopsied. The tissue inflammatory reaction was evaluated using a scale for objective scoring. For collagen, picrosirius was used with data reading using the Image Tool computer software. RESULTS: Cytokines: there were no statistically significant differences between the groups. HISTOLOGY: on the 40th postoperative day in group I, there were fewer inflammatory tissue response and greater collagen deposition (P < 0.01). In group II, there were greater inflammatory tissue response and less collagen deposition (P < 0.01). Group III presented intermediate values between groups I and II. CONCLUSIONS: There were no significant differences in cytokine levels between the groups in the present study. In the animals with the polypropylene + polyglactin mesh implant there was the most intense inflammatory process with lower tissue maturation and collagen deposition on the 40th postoperative day. The polypropylene mesh presented a less severe late inflammatory process, with greater tissue maturation and collagen deposition. The polypropylene + titanium mesh presented intermediate values between the others.

Referral patterns of dentists: analysis and implications of a questionnaire.

The interpersonal and psychodynamic aspects of the referral process, that is, the reciprocal relationship between the specialist and his referral source are investigated. A questionnaire designed by the author, with anonymity guaranteed, was given to the members of 2 dental societies. There were more similarities than differences in the answers of the respondents in both groups. Several conscious patterns of referral emerged or were evident. A number of unconscious, psychodynamic motivations were explored.

Referral patterns of dentists: transference-countertransference.

The doctor-patient, doctor-doctor dental relationships are discussed from the viewpoint of transference-countertransference psychodynamics. The dental referral process is a triad of patient, general practitioner and specialist and, in many ways, is dependent upon Freud's concept of transference-countertransference. The unconscious distortions of this process may affect the patient's treatment as well as the interpersonal and intraprofessional relationships.