Bioglass 45S5, a relevant alternative to autogenous harvesting for secondary alveolar bone grafts in clefts? Retrospective study of one hundred surgeries.

The secondary alveolar bone grafting (SABG) step restores the continuity of the alveolar bone necessary for dentition. Faced with the complications of autografts, synthetic biomaterials such as Bioglass (BG) 45S5 have been proposed. The objective was to evaluate the success rate of SABG with the addition of BG 45S5 and to highlight the prognostic factors. Patients who underwent operation between 2015 and 2021 and had follow-up cone-beam computed tomography (CBCT) were analyzed. Multivariate analysis was performed to determine factors influencing radiographic success. A total of 102 SABG were analyzed. They were unilateral total cleft lip and palate (49, 48.0%). The mean age at surgery was 9.32 ± 3.09 years. Surgeries were performed mainly outside a syndromic context and without a family history after orthodontic preparation. The radiographic success rate at 1 year was 80.4%. Mixed dentition stage (odds ratio [OR] = 7.3, p = 0.024), absence of syndromic context (OR = 20.7, p = 0.024) and female sex (OR = 4.88, p = 0.021) were factors predictive of surgical success. The use of BG 45S5 instead of autograft is relevant for SABG, with a 1-year success rate of over 80%. The stage of mixed dentition, the absence of syndromic context, and female sex were factors for good prognosis.

Oral health related quality of life of children and adolescents affected by rare orofacial diseases: a questionnaire-based cohort study.

BACKGROUND: Rare diseases affecting the teeth, the oral cavity and the face are numerous, each of them present specific characteristics, and is a life-long condition. The aim of the study was to assess the association between Oral health-related quality of life (OHRQoL), and demographic characteristics, clinical and dental factors, and psycho-social characteristics to investigate that oral symptoms are not the main factors underlying a decrease in OHRQoL. MATERIAL AND METHODS: We conducted a national cohort study in French centres for rare diseases (RD) specialized in orofacial diseases. The inclusion criteria were: to have received care in RD centres over the last 5 years (2012-2017) and to have been between 6 and 17 years of age on September 1, 2017. Patients were invited to answer a questionnaire composed of socio-demographic, clinical and dental questions, psychosocial questions and then fill in the Child-OIDP Index. At the end of the questionnaire, a free space was left for the patient to add a verbatim comment to provide qualitative data. Thematic analysis was used to analyze the verbatim answers. RESULTS: Complete data were available for 110 patients. The sample included 44.5% boys and 55.5% girls. Ages ranged from 6 to 17 years old and 68.2% were between 6 to 12 years old and 31.8% were between 13 and 17 years old. Factor associated with a lower OHRQoL were: being a girl (p = 0.03), renouncement to dental care for financial reasons (p = 0.01), having syndromic disease (p = 0.01), having a problem with tooth shape and color (p = 0.03), feeling isolated, alone and different from other children (p = 0.003 and p = 0.02). Qualitative analysis highlighted very little recourse to psychological care and patients reported great anxiety and fear about the future. CONCLUSION: OHRQoL of children suffering from these diseases is impaired, especially from the psychosocial point of view but also from that of the course of treatment and access to care. There is a need to improve the legibility of care pathways and the financial coverage of treatments.

Extracorporeal Shockwave Lithotripsy Versus Flexible Ureteroscopy for the Management of Upper Tract Urinary Stones in Children.

OBJECTIVE: To compare the efficacy and morbidity of extracorporeal shockwave lithotripsy (SWL) and flexible ureteroscopy (F-URS) for the management of upper tract urinary stones in children. METHODS: All SWL and F-URS performed in children in a single institution between 2000 and 2014 were reviewed retrospectively. Only procedures performed to treat upper tract urinary stones (upper ureter or kidney) were included in this study. Preoperative and perioperative outcomes were compared between the SWL and F-URS groups. Univariate and multivariate logistic regression analyses were used to evaluate predictors of stone-free (SF) status. RESULTS: Over the study period, 100 SWL and 46 F-URS were conducted in 69 children. The SWL and F-URS groups were comparable in terms of stone size (14.6 vs 13.2 mm, p = 0.32), but there were more multiple stones (31% vs 57%; p = 0.003) and lower pole calculi (14% vs 37%; p = 0.003) in the F-URS group. The SF rate after one procedure was almost two times higher in the F-URS group compared with the SWL group (37% vs 21%; p = 0.04) without increasing the complication rate (21.7% vs 16%; p = 0.31). Similar results were observed in the subgroup of single renal stones <20 mm (SF rates: 78.6% vs 50%; p = 0.06). In multivariate analysis, the use of F-URS vs SWL was a predictor of an SF status (odds ratio = 3.7; p = 0.02). CONCLUSION: F-URS provides a higher single-session SF rate, despite more complex urinary stones (multiple, lower pole, etc.) and without increasing morbidity.

Cellular mesoblastic nephroma: morphologic, cytogenetic and molecular links with congenital fibrosarcoma.

Congenital mesoblastic nephroma (CMN) is a rare renal tumor of early infancy with a favorable outcome after complete surgical removal. CMN consists of a heterogeneous group of spindle cell tumors subdivided into "classical", "cellular or atypical" and "mixed" forms based on histologic features. We describe a new case of cellular CMN diagnosed by antenatal ultrasonography with complete remission five years after nephrectomy. Cytogenetic study evidenced a trisomy 11, and real time RT-PCR, but not conventional karyotype, allowed for the detection of the Tel-ETV6/TrkC-NTRK3 fusion transcript as a consequence of a cryptic t(12-15)(p13;q25). As in congenital fibrosarcoma (CFS), two Tel-ETV6/ TrkC-NTRK3 fusion transcripts different by a 42 bp insert in the TrkC kinase domain were expressed. Our observations outline the close links between cellular CMN and CFS. Both tumors have the clinical presentation and histologic features as well as identical cytogenetic and molecular markers in common. Therefore, they are likely to represent the same neoplasm, but occurring at different locations.

[Antenatal solitary intestinal fibromatosis]. / Fibromatose intestinale solitaire congénitale.

Solitary intestinal fibromatosis (SIF) is rare. Only 16 cases have been described in the new-born and infancy. We describe a new case of SIF with an unusual presentation including abnormal antenatal echographic findings. SIF was diagnosed at 2 months age when the child developed an intestinal obstruction. Differential diagnosis and review of literature are discussed. This lesion has an excellent prognosis when it is completely excised.

Glial heterotopia of the face.

The authors report a case of combined subcutaneous and intranasal glial heterotopia of the face in a 4-month-old boy. The pathogenesis and differential diagnoses of this rare developmental disorder are discussed as is the importance of careful radiologic findings for appropriate surgical decision.

Perinatal management and outcome of prenatally diagnosed congenital diaphragmatic hernia: a 1995-2000 series in Rennes University Hospital.

OBJECTIVES: To assess the prognosis of prenatally diagnosed congenital diaphragmatic hernia (CDH) during the years 1995-2000 in order to improve prenatal counselling. METHODS: Retrospective study of all 31 cases of women with prenatally diagnosed CDH. RESULTS: Nine pregnancies (29%) were terminated and two fetuses (6%) were stillborn. Ten fetuses (32%) had associated anomalies (four Fryns' syndrome) and four (13%) had underlying chromosomal anomalies. Twenty pregnancies were continued. Seven babies died before surgery either immediately in the delivery room (five between 1 and 45 min), or during the 'stabilisation period' (two babies, 7 and 21 h). Three babies presented with trisomy 18, Fryns' syndrome or transposition of the great arteries with microdeletion 22q11. Thirteen babies had the defect repaired (median 18 h, range 4-72 h) and 12 survived. Mechanical ventilation was required for a median of 12 days. One survivor has cerebral palsy. CONCLUSION: Of 31 prenatally diagnosed CDH cases 38% are alive, of 20 ongoing pregnancies 60% are alive, and of 13 babies who underwent surgery 92% are alive. No baby with associated malformations survived. These numbers need to be known by each member of the counselling team in order to give parents adequate information to make their decision.