spontaneous correction
Recently Published Documents

Epidermolysis bullosa (EB) is a group of genetic blistering diseases characterized by mechanically fragile skin and mucocutaneous involvement. Historically, disease management has focused on supportive care. The development of new genetic, cellular, and recombinant protein therapies has shown promise, and this review summarizes a unique gene and cell therapy phenomenon termed revertant mosaicism (RM). RM is the spontaneous correction of a disease-causing mutation. It has been reported in most EB subtypes, some with relatively high frequency, and has been observed in both keratinocytes and fibroblasts. RM manifests as identifiable patches of unaffected, blister-resistant skin and can occur through a variety of molecular mechanisms, including true back mutation, intragenic crossover, mitotic gene conversion, and second-site mutation. RM cells represent a powerful autologous platform for therapy, and leveraging RM cells as a therapeutic substrate may avoid the inherent mutational risks of gene therapy/editing. However, further examination of the genomic integrity and long-term functionality of RM-derived cells, as well in vivo testing of systemic therapies with RM cells, is required to realize the full therapeutic promise of naturally occurring RM in EB.

Background: Hemispherotomy is an epilepsy surgery procedure applied to cure particularly pharmacorefractory lesional epilepsy due to unihemispheric pathologies. Such a disconnection of an entire hemisphere is followed by reorganizational processes.Methods: We describe an acute aggravation of behavioral problems following a hemispherotomy in a patient treated with valproic acid, which subsided once valproate was discontinued.Results: A 9-year-old boy with drug-resistant epilepsy caused by the residua of a perinatal stroke treated for several years with valproic acid and lamotrigine underwent hemispherotomy. Shortly after surgery, minimal preoperative behavioral problems intensified dramatically, and aggression occurred as a new symptom. Assuming a correlation between valproate treatment and the postoperative altered neuronal network, we tapered off valproate. The behavioral problems decreased in intensity with the reduction of valproate dose and disappeared after drug discontinuation.Conclusion: We describe severe behavioral problems after hemispherotomy that subsided when valproate was tapered off. While we cannot rule out a spontaneous correction of a post-hemispherotomy network dysregulation, our report raises awareness to possible altered effects of the anticonvulsant valproic acid parallel to reorganizational processes after hemispherotomy.

Abstract Objective To explore the characteristics of compensation of unfused lumbar region post thoracic fusion in Lenke 1 and 2 adolescent idiopathic scoliosis. Background Preserving lumbar mobility in the compensation is significant in controlling pain and maintaining its functions. The spontaneous correction of the distal unfused lumbar curve after STF has been widely reported, but previous study has not concentrated on the characteristics of compensation of unfused lumbar region post thoracic fusion. Method A total of 51 Lenke 1 and2 AIS patients were included, whose lowest instrumented vertebrae was L1 from January 2013 to December 2019. For further analysis, demographic data and coronal radiographic films were collected before surgery, at immediate erect postoperatively and final follow-up. The wedge angles of each unfused distal lumbar segments were measured, and the variations in each disc segment were calculated at the immediate postoperative review and final follow-up. Meanwhile, the unfused lumbar curve was divided into upper and lower parts, and we calculated their curve angles and compensations. Results The current study enrolled 41 females (80.4%) and 10 males (19.6%). Thirty-six patients were Lenke type 1, while 15 patients were Lenke type 2. The average main thoracic Cobb angle and thoracolumbar/lumbar Cobb angle were 44.1 ± 7.7°and 24.1 ± 9.3°, preoperatively. At the final follow-up, the disc wedge angle variation of L1/2, L2/3, L3/4, L4/5 and L5/S1 was 3.84 ± 5.96°, 3.09 ± 4.54°, 2.30 ± 4.53°, − 0.12 ± 3.89° and − 1.36 ± 2.80°, respectively. The compensation of upper and lower coronal lumbar curves at final follow-up were 9.22 ± 10.39° and − 1.49 ± 5.14°, respectively. Conclusion When choosing L1 as the lowest instrumented vertebrae, the distal unfused lumbar segments’ compensation showed a decreasing trend from the proximal end to the distal end. The adjacent L1/2 and L2/3 discs significantly contributed to this compensation.

Abstract ObjectiveTo explore the characteristics of compensation of unfused lumbar region post selective thoracic fusion in Lenke 1 and 2 adolescent idiopathic scoliosis BackgroundPreserving lumbar mobility in the compensation is significant in controlling pain and maintaining its functions. The spontaneous correction of the distal unfused lumbar curve after STF has been widely reported, but previous study has not concentrated on the characteristics of compensation of unfused lumbar region post selective thoracic fusion.MethodA total of 51 Lenke 1 and2 AIS patients were included, whose lowest instrumented vertebrae was L1 from January 2013 to December 2019. For further analysis, demographic data and coronal radiographic films were collected before surgery, at immediate erect postoperatively and final follow-up. The wedge angles of each unfused distal lumbar segments were measured, and the variations in each disc segment were calculated at the immediate postoperative review and final follow-up. Meanwhile, the unfused lumbar curve was divided into upper and lower parts, and calculated their curve angles and compensations.ResultsThe current study enrolled 41 females (80.4%) and 10 males (19.6%). 36 patients were Lenke type 1, while 15 patients were Lenke type 2. The average main thoracic Cobb angle and thoracolumbar/lumbar Cobb angle were 44.1±7.7°and 24.1±9.3°, preoperatively. At the final follow-up, the disc wedge angle variation of L1/2, L2/3, L3/4, L4/5 and L5/S1 was 3.84±5.96°, 3.09±4.54°, 2.30±4.53°, -0.12±3.89° and -1.36±2.80°, respectively. The compensation of upper and lower coronal lumbar curves at final follow-up were 9.22±10.39° and -1.49±5.14°, respectively.ConclusionWhen choosing L1 as the lowest instrumented vertebrae, the distal unfused lumbar segments' compensation showed a decreasing trend from the proximal end to the distal end. The adjacent L1/2 and L2/3 discs significantly contributed to this compensation.

In this case report, Authors describe the correction of a class II malocclusion using only an Herbst appliance palatally anchored with miniscrews. Before sagittal correction in the same appliance we applied a palatal screw to obtain maxillary expansion. The device were removed after 12 months of treatment. The final result included the correction of Class II malocclusion by lower dentoalveolar compensation mainly. The lip function favorite the spontaneous correction of upper frontal torque with consequent improvement of facial esthetics. After a follow up of 12 months the clinical result is satisfactory in terms of occlusion and esthetics. This clinical case showed a simple orthopedic and dentoalveolar approach to correct transversal discrepancy, dental class II malocclusion and also frontal proclination only with one appliance in a very short treatment time.

Background: Compound presentation occurs in approximately 1/700 deliveries. Being the rarest type, there is scarce literature about the recommended management for vertex-hand-feet variety of compound presentation. We report a similar type of compound presentation. Case Summary: A 25 years-old primigravida who claimed to be 9 months ammenorric presented with a history of pushing down pain of 12 hours duration with associated history of passage of liquor of 4 hours duration. Up on physical examination she was in active first of labor at cervical dilation of 5 centimeters and the presentation was compound- a vertex-hand-feet variety. Cesarean delivery was done after two hours of conservative management and the outcome was an alive 2300grams male neonates with no perinatal or maternal complication. Conclusion: In the rarest variety of compound presentation, which is a vertex, hand, and feet type, spontaneous correction is unusual if the fetus is alive and interference is usually necessary.

AbstractHuman ring chromosomes are often unstable during mitosis, and daughter cells can be partially or completely aneuploid. We studied the mitotic stability of four ring chromosomes, 8, 13, 18, and 22, in long-term cultures of skin fibroblasts and induced pluripotent stem cells (iPSCs) by GTG karyotyping and aCGH. Ring chromosome loss and secondary aberrations were observed in all fibroblast cultures except for r(18). We found monosomy, fragmentation, and translocation of indexed chromosomes. In iPSCs, aCGH revealed striking differences in mitotic stability both between iPSC lines with different rings and, in some cases, between cell lines with the same ring chromosome. We registered the spontaneous rescue of karyotype 46,XY,r(8) to 46,XY in all six iPSC lines through ring chromosome loss and intact homologue duplication with isoUPD(8)pat occurrence, as proven by SNP genotype distribution analysis. In iPSCs with other ring chromosomes, karyotype correction was not observed. Our results suggest that spontaneous correction of the karyotype with ring chromosomes in iPSCs is not universal and that pluripotency is compatible with a wide range of derivative karyotypes. We conclude that marked variability in the frequency of secondary rearrangements exists in both fibroblast and iPSC cultures, expanding the clinical significance of the constitutional ring chromosome.

ABSTRACT Objective: To evaluate the effectiveness of play strategies to break the pacifier-sucking habit and induce self-correction of the anterior open bite in the primary dentition. Methods: Data collection took place at the Pediatric Dentistry clinic of a public education institution. Three children, aged between 3 and 4 years old, using a pacifier and presenting with a 2 to 5 mm anterior open bite, participated in the research. Pediatric dental guidance was imparted to educate the family and to provide play strategies for the child by means of an illustrated book about the pacifier fairy. Results: After the first consultation, two children quit their pacifier habit. Subsequent consultations were devoted to positive reinforcement and follow-up of the self-correction of the anterior open bite. The third child required four visits to stop the pacifier habit, but other habits persisted and the open bite was only corrected after intervention by a multidisciplinary team. Conclusions: After receiving orientation from the professionals, the parents/guardians cooperated in stimulating the child, and the play activities were effective in encouraging the child to stop sucking on the pacifier, permitting self-correction of the anterior open bite. Bottle feeding, tongue interposition and mouth breathing may hinder the spontaneous correction of the anterior open bite after the pacifier habit is abandoned, requiring multidisciplinary intervention.

Migration or drifting of teeth is always multifactorial. This is one of the major concerns in the field of dentistry. On long standing periodontal disease this pathological migratory phenomenon occurs. Treating this pathological tooth migration requires some of the modalities like periodontal therapy/ orthodontic therapy/ restorative therapy. But in some cases periodontal therapy alone plays an important role in spontaneous correction of PTM. Present case report also demonstrate the spontaneous correction of mandibular anterior tooth proclination and slight amount of open bite with non- surgical periodontal therapy (periodontal therapy) alone