Spondylocarpotarsal synostosis syndrome due to a novel loss of function FLNB variant : a case report

BackgroundLoss of function or gain of function variants of Filamin B (FLNB) cause recessive or dominant skeletal disorders respectively. Spondylocarpotarsal synostosis syndrome (SCT) is a rare autosomal recessive disorder characterized by short stature, fused vertebrae and fusion of carpal and tarsal bones. We present a novel FLNB homozygous pathogenic variant and present a carrier of the variant with short height.Case presentationWe describe a family with five patients affected with skeletal malformations, short stature and vertebral deformities. Exome sequencing revealed a novel homozygous frameshift variant c.2911dupG p.(Ala971GlyfsTer122) in FLNB, segregating with the phenotype in the family. The variant was absent in public databases and 100 ethnically matched control chromosomes. One of the heterozygous carriers of the variant had short stature.ConclusionOur report expands the genetic spectrum of FLNB pathogenic variants. It also indicates a need to assess the heights of other carriers of FLNB recessive variants to explore a possible role in idiopathic short stature.Peer reviewe

Sialendoscopy under local anaesthesia

Conclusions: In most cases, both diagnostic and interventional sialendoscopy are well tolerated under local anaesthesia (LA) or under local anaesthesia with sedation (LAS), with reasonably low patient-reported discomfort. Sialendoscopy can be considered a patient-friendly and relatively painless, gland-preserving, minimally invasive procedure suitable for day surgery. Objective: To investigate patient experience and compliance in sialendoscopy under LA/LAS. Methods: This prospective study was conducted at an academic tertiary-care university hospital. During a period of 22 months, 89 patients between ages 16-81 years underwent diagnostic or interventional sialendoscopy under LA (20%) or LAS (80%). After the operation the patients filled in a questionnaire formulated by the authors concerning their procedure-related experiences. Patients' demographic data, ASA status score, pre- and intra-operative blood pressure and heart rate measurements, affected gland, operation time, intervention type, as well as pre-, peri-, and postoperative medication were gathered later from the medical records. Results: The level of discomfort and pain experienced during the operation was assessed as 'mild' or 'none' by 85% and 89% of the patients, respectively. The level of pain experienced after the operation was 'major' in 4% of patients and 'mild' or 'none' in the majority (87%) of patients. The patients' estimations showed no significant difference between the diagnostic and interventional procedures, although it seems that patients who underwent stone removal by transoral incision experienced the operation as a bit more uncomfortable and painful than other patients. Afterwards 97% of patients stated that they would agree to a new LA/LAS sialendoscopy in the future if needed.Peer reviewe

Three-dimensional printing for restoration of the donor face : A new digital technique tested and used in the first facial allotransplantation patient in Finland

Background and aims: Prosthetic mask restoration of the donor face is essential in current facial transplant protocols. The aim was to develop a new three-dimensional (3D) printing (additive manufacturing; AM) process for the production of a donor face mask that fulfilled the requirements for facial restoration after facial harvest. Materials and methods: A digital image of a single test person's face was obtained in a standardized setting and subjected to three different image processing techniques. These data were used for the 3D modeling and printing of a donor face mask. The process was also tested in a cadaver setting and ultimately used clinically in a donor patient after facial allograft harvest. Results: and Conclusions: All the three developed and tested techniques enabled the 3D printing of a custom-made face mask in a timely manner that is almost an exact replica of the donor patient's face. This technique was successfully used in a facial allotransplantation donor patient. (C) 2016 British Association of Plastic, Reconstructive and Aesthetic Surgeons. Published by Elsevier Ltd. All rights reserved.Peer reviewe

Increased Burden of Common Risk Alleles in Children With a Significant Fracture History

Extreme presentations of common disease in children are often presumed to be of Mendelian etiology, but their polygenic basis has not been fully explored. We tested whether children with significant fracture history and no osteogenesis imperfecta (OI) are at increased polygenic risk for fracture. A childhood significant fracture history was defined as the presence of low-trauma vertebral fractures or multiple long bone fractures. We generated a polygenic score of heel ultrasound-derived speed of sound, termed "gSOS," which predicts risk of osteoporotic fracture. We tested if individuals from three cohorts with significant childhood fracture history had lower gSOS. A Canadian cohort included 94 children with suspected Mendelian osteoporosis, of which 68 had negative OI gene panel. Two Finnish cohorts included 59 children with significant fracture history and 22 with suspected Mendelian osteoporosis, among which 18 had no OI. After excluding individuals with OI and ancestral outliers, we generated gSOS estimates and compared their mean to that of a UK Biobank subset, representing the general population. The average gSOS across all three cohorts (n = 131) was -0.47 SD lower than that in UK Biobank (n = 80,027, p = 1.1 x 10(-5)). The gSOS of 78 individuals with suspected Mendelian osteoporosis was even lower (-0.76 SD, p = 5.3 x 10(-10)). Among the 131 individuals with a significant fracture history, we observed 8 individuals with gSOS below minus 2 SD from the mean; their mean lumbar spine DXA-derived bone mineral density Z-score was -1.7 (SD 0.8). In summary, children with significant fracture history but no OI have an increased burden of common risk alleles. This suggests that a polygenic contribution to disease should be considered in children with extreme presentations of fracture. (c) 2020 American Society for Bone and Mineral Research.Peer reviewe

Jugulotympanic paragangliomas in southern Finland : a 40-year experience suggests individualized surgical management

Treatment of jugulotympanic paragangliomas (JTPGLs) remains challenging with no clear guidelines for management or follow-up. The aim of this retrospective case-note study was to assess long-term results of operatively and conservatively managed JTPGLs between years 1974-2013. A total of 36 patients with JTPGLs were identified. Clinical characteristics and management outcomes of patients were reviewed. Data were extracted on demographics, symptoms, timing of diagnosis, tumor location and size, embolization, and management, including pre- and post-operative imaging, analysis of operative techniques, and follow-up. Pulsatile tinnitus and hearing loss were the most common presenting symptoms. Thirty-four (94 %) patients were treated with primary surgical therapy and two (6 %) with radiotherapy. The surgical approaches included endaural approach for Fisch Class A tumors and a variety of approaches for Fisch Class B-D tumors with an increasing predilection for function-preserving surgery. Eight (24 %) patients received subtotal resection. Five (15 %) patients had a local recurrence within 10 years after primary surgery. Two (6 %) patients suffered a permanent cranial nerve (CN) deficit after primary surgery. We advocate radical surgery when tumor resection is possible without compromising CNs. Function-preserving surgery with at least a 10-year follow-up for Fisch Class B-D tumors should be considered if CNs are in danger.Peer reviewe

Compromised Peak Bone Mass in Patients with Inflammatory Bowel Disease-A Prospective Study

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The Effect of mandible advancement splints in mild, moderate, and severe obstructive sleep apnea-the need for sleep registrations during follow up

Objective and design: Our aim was to evaluate the effect of mandible advancement splint (MAS) in mild, moderate, and severe obstructive sleep apnea (OSA). We also determined, if and in which OSA-groups the adequate forward movement in MAS could be quantified without sleep registration for different OSA levels. A retrospective study. Settings: The effect of MAS was measured with clinical methods and by sleep registration. Participants: The series consisted of 103 patients, 75 males and 28 females (mean age 52 years) suffering from mild (32 per cent), moderate (32 per cent), or severe (36 per cent) OSA, who were treated with MAS at Helsinki University Hospital, Finland during the years 2011-2012. Seventy per cent of the patients had tried continuous positive airway pressure (CPAP) before MAS. Results: The lower the body mass index (BMI) was the bigger the probability was to get apnea/hypopnea index (AHI) values <5 per hour with MAS (P <0.01). The total AHI decreased significantly from the baseline with MA (P <0.001). The mean oxygen desaturation index (ODI4%) improved significantly from 16 per hour (range 1-76) to 5.3 per hour (range 0.2-49), (P <0.01), and the minimum oxygen saturation improved significantly from 84 per cent (67-91) to 87 per cent (68-93), (P <0.01). The reduction of AHI with MAS was significantly bigger in patients with a previous CPAP experience (73 per cent) than those who did not tried CPAP therapy. The positive correlation was found between the decrease in AHI and the increase of the protrusion in MAS. Conclusion: Both sleep recordings and subjective indicators demonstrated that MAS therapy was successful in OSA based on ESS, total AHI, ODI4%, and minimum oxygen saturation values. It seems useful to increase the protrusion at its maximal clinical tolerance. An experienced dentist could make therapeutically decision concerning the follow up of MAS efficacy regardless of the result of sleep study. We suggest that MAS is a valuable treatment alternative for CPAP. However, the previous use of CPAP with MAS as well as lower baseline BMI seem to have a positive correlation with the success of MAS therapy.Peer reviewe

Intracranial Suppurative Complications of Sinusitis

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A differential diagnosis of a head and neck bony lesion : Review of a case series with 18 patients with extraintestinal features of familial adenomatous polyposis

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A History of Cow's Milk Allergy Is Associated with Lower Vitamin D Status in Schoolchildren

Background/Aims: Vitamin D insufficiency is common in children. We aimed to evaluate the main determinants of vitamin D status in Finnish school-aged children, including the history of allergic diseases. Methods: We conducted a cross-sectional study on 171 ten-year-olds where serum 25-hydroxyvitamin D (25[OH] D) levels were measured, and data on food consumption and use of vitamin D supplements were collected. The history of allergic diseases was evaluated with a validated questionnaire. Results: Vitamin D insufficiency (Peer reviewe