Homozygous novel truncating variant of CLPP associated with severe Perrault syndrome.

A female proband and her affected niece are homozygous for a novel frameshift variant of CLPP. The proband was diagnosed with severe Perrault syndrome encompassing hearing loss, primary ovarian insufficiency, abnormal brain white matter and developmental delay.

Comparative Evaluation of Digital Cephalometric Tracing Applications on Mobile Devices and Manual Tracing.

BACKGROUND Cephalometric radiography evaluates facial skeleton development and aids in diagnosis and treatment phases (pre and post) in orthodontics. This study aimed to compare digital cephalometric tracing using a smartphone application (App), a tablet-based platform, and manual tracing in 30 orthodontic patients. MATERIAL AND METHODS Thirty orthodontic pretreatment, criteria based, lateral cephalometric radiographs were analyzed/grouped for Steiner analysis parameters (5 skeletal, 3 dentals, 1 soft tissue) by 3 tracing methods [manual - group (Gp M), smartphone (Android - OS9) - Gp S, tablet (Apple - IOS13) - Gp T) after mandatory standardization/calibration. Measurements include 5 angular (SNA, SNB, ANB, SNMPA, SNOP), 3 linear U1NA, L1NB, U1L1, and 1 soft tissue (S line) (millimeters and degrees). Inter-examiner rating was determined using Dahlberg's test. After normality distribution testing (Shapiro-Wilk), data were analyzed using one-way analysis of variance (ANOVA) for group differences. Homogeneity of variance was verified using the Levene test. Differences were determined on probability value of (p≤0.05). RESULTS The results showed that Steiner's analysis parameters were similar in all groups with homogenous variances. Highest differences in mean values were found for L1NB, U1L1, and S line measurement, with higher values being observed in Gp S tracings. However, these differences were not statistically significant (p≤0.05). All parameters, irrespective of being measured in either degrees or millimeters, had means comparable to each other. CONCLUSIONS Smartphone and tablet-based applications produced tracings that were comparable and reliable when compared to conventional manual tracings. Standardization of images, processing, printing, and calibration of devices is important to achieve good results.

Hip Displacement After Triradiate Closure in Ambulatory Cerebral Palsy: Who Needs Continued Surveillance?

BACKGROUND: Hip surveillance in cerebral palsy (CP) is an accepted practice with evidence-based guidelines implemented. For the skeletally immature with open triradiate cartilage (TRC), recommendations for radiographic surveillance stemmed from population-based studies. For nonambulatory CP, progression of hip displacement after skeletal maturity has been reported; less is known for ambulatory CP. We aimed to determine the prevalence and risk factors associated with progressive hip displacement after TRC closure, a proxy for skeletal maturity, for ambulatory CP. METHODS: This is a retrospective cohort study of patients with ambulatory CP (Gross Motor Function Classification System I-III), with unilateral or bilateral involvement, hypertonic motor type, regular hip surveillance (≥3 radiographs after age 10 yr, 1 before TRC closure, ≥1 after age 16 yr), and 2-year follow-up post-TRC closure. The primary outcome was migration percentage (MP). Other variables included previous preventative/reconstructive surgery, topographic pattern, sex, scoliosis, epilepsy, and ventriculoperitoneal shunt. An "unsuccessful hip" was defined by MP ≥30%, MP progression ≥10%, and/or requiring reconstructive surgery after TRC closure. Statistical analyses included chi-square and multivariate Cox regression. Kaplan-Meier survivorship curves were also determined. Receiver operating characteristic analysis was used to determine the MP threshold for progression to an "unsuccessful hip" after TRC closure. RESULTS: Seventy-six patients (39.5% female) met the inclusion criteria, mean follow-up 4.7±2.1 years after TRC closure. Sixteen (21.1%) patients had an unsuccessful hip outcome. By chi-square analysis, diplegia (P=0.002) and epilepsy (P=0.04) were risk factors for an unsuccessful hip. By multivariate analysis, only first MP after TRC closure (P<0.001) was a significant risk factor for progression to an unsuccessful hip; MP ≥28% being the determined threshold (receiver operating characteristic curve analysis, area under curve: 0.845, P<0.02). CONCLUSIONS: The risk of MP progression after skeletal maturity is relatively high (21%), similar to nonambulatory CP. Annual hip surveillance radiographs after TRC closure should continue for Gross Motor Function Classification System I-III with an MP ≥28% after TRC closure, especially for bilateral CP and epilepsy. LEVEL OF EVIDENCE: III.

Graves' disease post-COVID-19 m-RNA vaccine in pediatric age group.

The surge of the COVID-19 pandemic (December / 2019 - May/2023) and its catastrophic effect worldwide have necessitated emergent intervention to reduce its influence on people's health and life. To eliminate and reduce the impact of COVID-19 infection, COVID-19 vaccination was emergently authorized in December 2020 which has established good safety and efficacy. Having said that, some adverse effects merged in a few individuals. We are reporting an adolescent patient a 17-year-old female who has been diagnosed with Graves' disease after post-COVID-19 vaccinations. In addition, she was a confirmed case of COVID-19 infection three months earlier. The patient presented with typical features of hyperthyroidism 30 days post receiving the first dose of the vaccination. Based on the patient's presentation relative to the administration of the vaccine and prior infection of the virus. We proposed the synergistic effect of both factors to induce Graves' disease in this young healthy female with no family history of autoimmune disease. We are reporting this case for pediatric endocrinologists to be aware of the interaction and possible impact of the COVID-19 vaccine on thyroid function.

Short-term side effects of BNT162b2 vaccine in primary care settings in Qatar: a retrospective study.

Background: Despite the established effectiveness of the BNT162b2 Vaccine, the novel technology demands careful safety monitoring. While global studies have explored its safety, local data remains limited and exhibits some variability. This study investigated short-term side effects among BNT162b2 vaccinated individuals in Qatar. Methods: A retrospective analysis was conducted using data extracted from the electronic health records of individuals aged 18 or older across 8 primary health centers who received either the first or second dose of the BNT162b2 vaccine during the period from December 23, 2020, to April 24, 2021. The proportions of individuals experiencing short-term side effects after each dose were calculated. Logistic regression and log binomial regression analyses were used to explore associations with the side effects. Results: Among 7,764 participants, 5,489 received the first dose and 2,275 the second, with similar demographics between the groups. After the first dose, 5.5% reported at least one local side effect, compared to 3.9% after the second, with a 1.4 times higher incidence after the first dose (RR 1.4, 95% CI 1.14-1.75) compared to the second. Systemic side effects after the second dose were 2.6 times more common than after the first (RR 2.6, 95% CI 2.15-3.14). Gender, nationality, history of prior COVID-19 infection, and obesity were significantly associated with side effects after the first dose, while age, gender, and nationality, were significant factors after the second dose. Conclusion: The rates of side effects following the BNT162b2 vaccine in Qatar were relatively low, with age, gender, nationality, previous infection, and obesity identified as significant predictors. These results emphasize the need for tailored vaccination strategies and contributes valuable insights for evidence-based decision-making in ongoing and future vaccination campaigns.

Comparison of the effects of two different styles of orally prescribing prednisolone on postoperative sequelae of surgical extraction of an impacted mandibular third molar: a single-blind randomized study.

Objectives: Surgical intervention for removal of an impacted third molar can lead to significant pain and swelling. Corticosteroids show promise for mitigating postoperative sequelae across various surgical contexts. The use of corticosteroids following minor oral surgery, though controversial, has already been proven effective. However, little research has explored peroral prescription of corticosteroids despite its convenience for outpatients and for non-surgeons like implantologists and periodontists and others who don't have access to needle injections. The aim of this study was to address a void in the literature by comparing the effects of two styles of preoral administration of prednisolone after surgical removal of the mandibular third molar and to determine which style minimizes postoperative sequelae. Materials and Methods: A randomized, split-mouth clinical study was conducted to investigate the efficacy of two different styles of preoral prednisolone in mitigating postoperative sequelae following surgical extraction of impacted mandibular third molars. Fifteen participants were enrolled in the study. Random selection was used to determine the prescription style for the right and left mandibular arch. Group A included those who received a single dose of prednisolone 25 mg, while group B received prednisolone 5 mg postoperatively for a period of three days (5 mg three times/day on the first postoperative day, 5 mg twice/day on the second postoperative day; 5 mg once/day on the third postoperative day). Results: There was a significant difference in the distance between the corner of the mouth and tragus, which decreased with the time interval with respect to group B when compared to group A. Conclusion: The present study showed that a three-day tapered dose of prednisolone postoperatively was more effective in reducing post-extraction sequelae than a single-dose regimen.

Generation of induced pluripotent stem cell lines from two unrelated patients affected by intellectual disability carrying homozygous variants in SGIP1.

Intellectual disability (ID) is a diverse neurodevelopmental condition and almost half of the cases have a genetic etiology. SGIP1 acts as an endocytic protein that influences the signaling of receptors in neuronal systems related to energy homeostasis through its interaction with endophilins. This study focuses on the generation and characterization of induced pluripotent stem cells (iPSC) from two unrelated patients due to a frameshift variant (c.764dupA, NM_032291.4) and a splice donor site variant (c.74 + 1G > A, NM_032291.4) in the SGIP1 gene.