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Objective: To compare torque expression characteristics between rectangular slot (0.022″ x 0.028″) Damon Q passive self-ligating brackets (Ormco, Glendora, Calif) and square slot (0.021″ x 0.021″) Pitts 21 brackets (OC Orthodontics) using 0.019″ x 0.025″ Stainless Steel and 0.020″ x 0.020” Titanium Molybdenum alloy wires at various incisal inclinations using finite element analysis. The null hypothesis was that there were no differences in torque expression in both tested groups. Methods: Reporting guidelines for in-silico studies using finite element analysis in medicine (RIFEM) were used. Damon Q and Pitts 21 brackets were scanned and 3D models generated. Brackets were placed on a 3-D model of a maxillary central incisor with its long axis inclined at 0⁰,5⁰,10⁰,15⁰ and 20⁰ to the occlusal plane. Final 0.019″ x 0.025″ SS and 0.020″ x 0.020” TMA archwires were inserted into slots of both tested brackets. Geometric models were converted into finite element models. Material properties were assigned for involved structures with automatic meshing performed by software. Torque movements were simulated with the FE program Ansys Space claim R 22. Results: Torque moment values, torque expression and Von - Mises stress was higher in Pitts 21 than Damon Q at all inclination angles. There was a gradual increase in the magnitude of values with decrease in incisal inclination. Conclusion: Square slot passive self-ligating brackets show superior torque expression characteristics as compared to rectangular wire-rectangular slot combinations. The FEM results should be validated with in-vivo studies in order to confirm the findings.

Objective: This study investigated torque expression in maxillary incisors using two passive self-ligating bracket types (Damon Q and Pitts 21) placed at different heights using the Finite element method. Materials and methods: Two passive self-ligating brackets, Damon Q (Ormco, USA) and Pitts 21 (OC Orthodontics, USA) were 3D modeled using micro-computed tomography. Damon Q (0.022ˮ x 0.028″ slot size) and Pitts 21 (0.021ˮ x 0.021″ slot size) brackets were placed on a maxillary central incisor at predetermined vertical heights. Arch wires of size 0.019ˮ x 0.025″ stainless steel (Damon Q) and 0.020ˮ x 0.020” Titanium Molybdenum (Pitts 21) were placed in the bracket slots. Results: Pitts 21 brackets showed higher torquing moments at all bonding heights as compared to Damon Q brackets. The minimum torquing moment was 9.03Nmm at 5 mm for Damon Q and the maximum torquing moment was 14.92Nmm for Pitts 21 at a bracket bonding height of 8 mm. Total deformation for Pitts 21 at a height of 5 mm from the incisal edge was 0.61 × 10−6mm as compared to that of Damon Q which was 0.41 × 10−6mm. Lowest Von Mises stress values were at 27.07 MPa in Damon Q brackets at a bracket height of 5 mm from the incisal edge. Highest Von Mises stress values were 36.80 MPa for Pitts 21 brackets at a bracket height of 8 mm from the incisal edge. Conclusion: Pitts 21 brackets exhibited superior torquing characteristics compared to Damon Q. Total deformation in Pitts 21 was higher than Damon Q at all tested bracket bonding heights.

Background: This study used finite element modeling to investigate stress distribution patterns during treatment with Advan Sync 2 Class II correctors. Methods: – A 3-D finite element model of the skull was constructed from images obtained from cone-beam computerized tomography images. Surface data of the AdvanSync2, brackets and archwires were derived and used to construct 3-D models. Stress distribution patterns and variations were assessed and quantified during appliance simulation and after advancement by 4 mm using spacers, on the finite element model. Results: Stress levels were recorded in Megapascals (MPa) and were visualized with a color scale. Maximum stress was evident in the mandible near the neck of condyle, anterior part of ramus and medial part of the coronoid process. Maxillary and mandibular teeth experienced negligible stress. Stress levels increased on advancing the appliance with spacers, though the regions and patterns of stress concentration in the maxilla and mandible remained constant to a great extent. Conclusion: The AdvanSync2 is an appropriate fixed functional appliance to correct Class II malocclusions with a retrognathic mandible, as it does not apply unnecessary and deleterious stresses on the maxillary and mandibular teeth.

Background and Aims: We aimed to investigate gingival index changes and oxidative stress in orthodontic patients with and without the use of fluoridated agents over a 6-month period. Materials and Methods: Ninety subjects divided into three groups (30 untreated controls, 30 with fixed appliances using nonfluoridated toothpaste, and 30 with fixed appliances using fluoridated toothpastes and mouthwashes) comprised the sample. The Loe gingival index was used to rank gingival health at four specific time periods in the groups to determine differences (before, at 7 days, 30 days, and 6 months). Gingival crevicular fluid was evaluated for cytokines (interleukin [IL]-1β and tumor necrosis factor [TNF]-α) to determine differences in oxidative status between the groups. Results: Controls showed no changes in gingival index throughout the 6-month observation period. There was a deterioration in gingival health in both the fluoridated and nonfluoridated groups till 6 months. IL-1β levels in the fluoridated group increased from the 7th day, reached a peak at 30 days, and remained slightly elevated at 6 months. The nonfluoridated group also showed elevated levels at all tested time periods, but levels were lower as compared to fluoridated samples. The differences in IL-1β values between the fluoridated and nonfluoridated treated groups were significant. TNF-α levels in the three groups also showed a similar pattern with elevated levels seen in both the treated groups at the 7th, 30-day, and 6-month periods. The fluoridated group showed the highest levels at three time periods which was statistically significant. Conclusions: Gingival health of subjects treated with fixed orthodontic appliances deteriorated from appliance placement till a 6-month time period. Cytokines such as IL-1β and TNF-α associated with oxidative stress during orthodontic treatment increased in both the treated groups, with higher levels in fluoridated subjects. Long-term consequences of oxidative stress changes need further investigation.

Background: The success of orthodontic treatment to a significant extent is largely dependent on the patient's and lay peoples' perception. Treatment can influence the soft tissue profile of the face, which is why, it is important for orthodontists to perceive what is considered attractive and unattractive amongst locals, and further, incorporate this knowledge in their diagnosis and treatment planning for population-specific groups. Aim: To evaluate differences in perception of attractiveness of the human face (in profile view) among ethnic Telangana subjects when compared to ideal Caucasian facial profile attractiveness standards. Methods: Profile silhouettes of ethnic Telangana subjects with straight, convex and concave facial profiles were rated by 10 adult laypersons (ethnic Telangana origin) and scored from least to most attractive. Fifteen relevant soft-tissue parameters from the Ricketts, Legan-Burstone, Steiner's and Z-Merrifield analysis were then evaluated on lateral cephalometric radiographs of the highest scoring subjects (considered most attractive) and sample t test statistical analysis was done in order to investigate differences between obtained values of the 'attractive' group as compared to standard values given in these analyses. Results: Of 15 parameters compared, significant differences from standard cephalometric values were evident for- vertical lip-chin ratio, lower lip protrusion, mento-labial sulcus and Z- angle. These measurements were smaller in the evaluated population group as compared to orthodontic norms. Conclusion: People of ethnic Telangana origin considered a shorter and less prominent lower lip and chin and a shallower mento-labial sulcus to be more attractive, as compared to standard orthodontic cephalometric norms of Caucasian populations.

Objective: To compare the amount of alleviation of lower anterior crowding and changes in intercanine width (ICW), intermolar width (IMW), and arch depth (AD) dimensions using 2 different types of nickel-titanium (NiTi) archwires.Methods: Thirty participants were randomly allocated to 2 treatment groups, using heat-activated NiTi (HANT) or super-elastic (SE-NiTi) round (0.014”) archwires. The inclusion criteria were a Little’s Irregularity Index (LII) greater than 4, malocclusion requiring non-extraction therapy, all teeth erupted to the second molars in the lower arch, and Angle’s Class I malocclusion. The primary aim was to measure alleviation in mandibular crowding over 12 weeks; the secondary aim was to measure changes in ICW, IMW, and AD during those 12 weeks. Simple randomization was performed. The measurements were made on dental stone casts using a coordinate measuring machine at 4-week intervals.Results: LII at 0, 4, 8, and 12 weeks was 8.59 ± 1.44, 6.17 ± 1.65, 4.65 ± 1.63, and 3.28 ± 1.57 mm in the HANT; 8.87 ± 1.29, 6.92 ± 1.49, 5.25 ± 1.32, and 3.63 ± 1.32 mm in the SE-NiTi group, respectively. ICW increased from 25.43 ± 1.39 to 27.41 ± 1.29 mm in the HANT and from 25.81 ± 1.78 to 27.27 ± 1.83 mm in the SE-NiTi groups over a period of 12 weeks, at P < .05. There was a statistically significant increase in IMW, CAD (canine arch depth), and MAD (molar arch depth), favoring the HANT group (P < .05). No significant differences in LII between the 2 groups were noted (P > .05).Conclusions: The amount of alleviation of lower anterior crowding was similar with both archwires. ICW, IMW, and AD increased with HANT archwires.

Objective: This study aimed to evaluate the effects of Coca-Cola®, Sprite®, and Maaza® on Microleakage, shear bond strength (SBS) and adhesive remnants underneath orthodontic brackets. Materials and Methods: A total of 192 human premolar teeth were used in this study. The sample was divided into four groups: Artificial saliva (control) [Group 1], Coca-Cola [Group 2], Sprite [Group 3] and Maaza [Group 4]. All the samples were stored in artificial saliva and immersed in their respective testing media (except the control group) for 15 minutes 3 times a day, separated by intervals of 8 hours. The immersion cycle was repeated for 15 days. After the immersion cycle, 24 teeth from each group were tested for SBS and adhesive remnant index subsequently. The remaining 24 teeth from each group underwent dyeing with methylene blue and were analyzed stereomicroscopically to evaluate microleakage underneath the brackets. Kolmogorov-Smirnov and Shapiro normality tests were performed and homogeneity of variance was tested with the Levene test. One-way ANOVA and Kruskal-Wallis tests were carried out separately for SBS, ARI and microleakage. Statistical analyses were performed using SPSS 20 for Windows (SPSS Inc., Chicago) software. Results: Coca-Cola showed a significant reduction in SBS and microleakage (p < 0.05) compared to the other groups. ARI did not show any significant differences between any groups (p > 0.05). The mean microleakage scores were higher for the gingival side of the brackets compared to the incisal side. Both Sprite and Maaza showed significant differences compared to artificial saliva, despite the SBS not being statistically significant (p > 0.05). Conclusions: A significant reduction of SBS was observed in Coca-Cola while increased microleakage was seen in all three drinks compared to artificial saliva.

Context: Smile aesthetics is one of the major goals to be achieved after orthodontic mechanotherapy as it visibly displays the results of orthodontic treatment. Although orthodontic retainers aid in maintaining post-treatment occlusion, soft tissue function and aesthetics, appropriate knowledge of smile changes with age can help orthodontists to obtain stable and aesthetically appealing treatment results. Aim: To assess and quantify soft tissue changes in the upper lip in vertical dimension at both repose and maximum smiling and to evaluate changes occurring with the smile index and upper lip with age and sex in subjects of Indian origin. Settings: Department of Orthodontics and Dentofacial Orthopaedics, Army College of Dental Sciences, Secunderabad, Telangana, India. Design: Observational study Methods and Materials: A total of 160 volunteers (80 males and 80 females) selected and were divided into 4 groups according to age and were further divided into 2 sub-groups according to gender. Thirteen measurements of relaxed and smiling upper lip were taken with a calibrated metal ruler and divider directly on the subjects. Statistical Analysis Used: Analysis of variance (ANOVA) was done followed by post hoc test to determine which groups were significant from others. Levene's test was done to assess equality of variance and t-test for equality of means was done. Results: Statistically significant results were obtained in between groups and sub-groups for parameters like smile index, upper lip elevation while smiling and smile pattern in males and females changing with increase in age. Conclusions: High smile patterns with more vertical smile are more common among females and low smile patterns are more common among males. With age, the smile tends to be more horizontal in both genders.

Aim: To analyze the degree of corrosion of nickel titanium arch wires in patients with and without exposure to fluorides. Material and methods: This was an ex vivo study comprising of 60 subjects undergoing fixed orthodontic treatment. Group 1(controls) comprised of 30 sets of new unused NiTi wires and unused 11, 15 brackets, Group 2(patients) comprised of 30 sets of non fluoridated NiTi wires and 11, 15 brackets and Group 3(patients) had 30 sets of fluoridated NiTi wires and 11, 15 brackets. NiTi wires were used over 6 months of treatment(0.014″,0.016″, 16 × 22”, each wire was used for 2 months and replaced with the next size). All wires were retrieved, stored and analyzed. At 6 months, brackets from 11 to 15 were debonded in both treatment groups. Archwires and brackets in 3 groups were subjected to SEM analysis at 500 and 1000X to observe differences. Additionally, EDX Spectroscopy was undertaken to evaluate surface elemental compositional differences in groups. Results: Significant differences among groups were evident in brackets and archwires tested. Maximum degradation, cracks and dark spots were seen in wires and brackets exposed to fluoride agents. EDX spectroscopy revealed least Ni% in fluoridated wires and brackets. Conclusions: Increased leaching of metal ions was evident when wires and brackets are exposed to fluoride agents during treatment. Use of non fluoridated mouthwash and toothpastes may be considered in orthodontic patients without risk of caries to mitigate such effects

This article has been retracted: please see Elsevier Policy on Article Withdrawal (https://www.elsevier.com/about/our-business/policies/article-withdrawal).This article has been retracted at the request of the Editor-in-Chief.The article has serious flaws in conducting this systematic review and meta-analysis making it a very poor quality review outweighing the relative importance of the meta-analysis. Risk of bias assessment shows high risk of bias (authors on the contrary have stated low risk of bias), some important studies like Katchooi (https://https://pubmed.ncbi.nlm.nih.gov/29501108) have been excluded suggesting publication bias, data has been entered incorrectly (mean ± SE has been entered instead of mean ± SD), have stated use of random effect meta-analytical model for data synthesis while fixed effect model was used, and then incorrectly analysed it.

Aim: To evaluate relationships between frontal cephalograms and photographic measurements of Indian population with anthropometric measurements and if frontal photographic analysis could be utilized with precision for orthodontic diagnosis. Material and methods: A cross-sectional ex vivo study was conducted on 300 subjects with age range of 18–25yrs. Standardized frontal cephalograms and photographs were obtained for all subjects and were analysed with Nemoceph 10.4.2 (Nemotec Dental Systems, Madrid, Spain) software program. Linear anthropometric measurements were recorded with the help of a digital Vernier caliper. 21 linear measurements were made, of which 10 were horizontal and 11 were vertical. Repeated measures of ANOVA followed by Bonferroni's Post hoc Analysis was used to compare mean values of horizontal and vertical parameters between 3 different methods. The level of significance was set at p

Context: Modern orthodontics focuses on soft tissue paradigms. Successful treatment outcomes are dependent on the patient's self-impression. Understanding individual differences in perception of facial attractiveness across orthodontics, their patients and other dental specialists would help obtain optimal and satisfactory results. Aim: To determine facial frontal proportions and lip position preferences among lay people, general dentists, specialists, and orthodontists to estimate differences in perceptions. Materials and Methods: 200 raters divided into Group 1 [50 each of orthodontists, general dentists, specialist dentists (oral surgeons, endodontists, periodontists, prosthodontists, and pedodontists)] and Group 2 (50 lay individuals of Telangana origin) participated in a questionnaire-based survey comprising photographs of one male and one female of Telangana origin with mesoprosopic faces and competent lips morphed as leptoprosopic and euryprosopic with lip positions morphed as potentially incompetent and incompetent. Raters evaluated and ranked each set of three altered frontal images on a 3-point Likert scale and lips on a 6-point Likert scale. Statistical Analysis Used: Means and standard deviation for the entire sample population and independently for gender and professional groups were obtained. Mann–Whitney test to compare rankings of each male and female image according to gender and Kruskal–Wallis test to compare rankings of male and female images between the four groups were done. Results: Mesoprosopic faces were most attractive in males and females followed by leptoprosopic and euryprosopic patterns. Male and female subject values did not differ significantly when analyzed. Orthodontists and specialist dentists found mesoprosopic male and female faces to be most attractive. Euryprosopic female faces were deemed more acceptable by lay public. Competent lip images were found to be most attractive. Potentially incompetent lips in males and incompetent lips in females were least attractive. Conclusion: These findings can assist orthodontists in treatment planning. Lower facial height changes can be assessed, and effects on overall patient esthetics can be determined for treatment results to closely mimic patient expectations.

Introduction: Photogrammetry is a science of making measurements from photographs. As cephalometric analysis till date has focused mainly on skeletal relationships, photogrammetry may provide a means to reliably assess and compare soft tissue and hard tissue measurements. Aim: To compare and correlate linear measurements taken directly from subject’s faces and from standardized frontal cephalometric radiographs and to correlate them with standardized frontal facial photographs of Indian population and to obtain mean values. Materials and Methods: A cross-sectional study was conducted on 30 subjects of Indian origin. Frontal cephalograms and standardized frontal photographs were obtained from subjects in the age group of 18- 25 years. Vernier calipers were used to obtain facial measurements directly. Photographs and radiographs were uploaded and measured using Nemoceph software. Analogous cephalometric, photographic and direct measurements were compared by one-way ANOVA to assess Pearson correlation coefficients for 12 linear measurements (6 vertical, 6 horizontal). Bonferroni post-hoc test was done for pair wise comparison. Results: Among all measurements used, OR-OL (orbitale rightorbitale left) showed a high correlation r = 0.76, 0.70, 0.71. There was moderate correlation with EnR-EnL (endocanthion rt – endocanthion lt) r= 0.62, 0.68, 0.68. Highly significant correlation was evident with N-Sn, EnR-EnL and AgR-AgL with p

Mid palatal fractures are usually present in conjunction with Le Fort I maxillary fractures. Literature on isolated mid palatal fractures as seen in this case is relatively rare. A novel approach for the management of this case was undertaken. A rapid maxillary expander was used to separate palatal segments which healed well. The patient’s crossbite and open bite was corrected with elastic use. The protocol of management of malunion of isolated mid palatal fractures is simple with reduced costs, morbidity and higher rates of acceptance. We report a case of a 26-year-old male patient involved in a road traffic accident leading to an isolated mid palatal fracture which is a rare entity. Due to lack of specialized care, the fracture fragments united inadequately resulting in deranged occlusion, open bite and reduced masticatory efficiency.

An unusual case of altered passive eruption with gingival hyperpigmentation and a Class I malocclusion in a 12-year-old girl having no previous history of medication is presented. The patient reported with spacing in the upper arch, moderate crowding in the lower arch, anterior crossbite and excessive gingival tissue on the labial surfaces of teeth in both the arches. The inadequate crown lengths made placement of the orthodontic brackets difficult. Preadjusted orthodontic brackets have a very precise placement protocol which can affect tooth movement in all 3 planes of space if violated. The periodontal condition was diagnosed as altered passive eruption Type IA. Interdisciplinary treatment protocols including periodontal surgical and orthodontic procedures were used. The periodontal surgical procedures were carried out prior to orthodontic therapy and the results obtained were satisfactory. It is suggested that orthodontists should be aware of conditions like altered passive eruption and modalities of management. In most instances, orthodontic therapy is not hindered.

Transverse maxillary hypoplasia or maxillary constriction in conjunction with unilateral or bilateral posterior cross bites is a common finding in cleft palate patients. These situations are also commonly encountered in adults who have not had recourse to orthodontic treatment in childhood. In adults, after ossification of the mid palatal suture is complete, the accepted means of correcting transverse skeletal discrepancies is by Surgically Assisted Rapid Maxillary Expansion (SARME). The disadvantage of this technique in the Indian scenario is reduced patient acceptance and increased treatment costs. Le Fort-I down fracture and mid palatal suture sectioning requires hospitalization and increases morbidity. A case of a 21-year-old non-cleft male who presented with Class I malocclusion with transverse skeletal discrepancy and bilateral posterior cross bites is presented. A modified SAARME technique was performed without pterygomaxillary disjunction, as an outpatient procedure. The results obtained were satisfactory and the desired amount of transverse skeletal correction was achieved. The patient was discharged the same day. The technique can be used to successfully treat a large number of patients in India with maxillary skeletal transverse problems with increased predictability, reduced costs and morbidity and higher rates of acceptance.

Iron-sulfur cluster proteins are involved in critical functions for gene expression regulation and mitochondrial bioenergetics including the oxidative phosphorylation system. The c.215G>A p.(Arg72Gln) variant in NFS1 has been previously reported to cause infantile mitochondrial complex II and III deficiency. We describe three additional unrelated patients with the same missense variant. Two infants with the same homozygous variant presented with hypotonia, weakness and lactic acidosis, and one patient with compound heterozygous p.(Arg72Gln) and p.(Arg412His) variants presented as a young adult with gastrointestinal symptoms and fatigue. Skeletal muscle biopsy from patients 1 and 3 showed abnormal mitochondrial morphology, and functional analyses demonstrated decreased activity in respiratory chain complex II and variably in complexes I and III. We found decreased mitochondrial and cytosolic aconitase activities but only mildly affected lipoylation of pyruvate dehydrogenase and 2-oxoglutarate dehydrogenase enzymes. Our studies expand the phenotypic spectrum and provide further evidence for the pathogenicity and functional sequelae of NFS1-related disorders with disturbances in both mitochondrial and cytosolic iron-sulfur cluster containing enzymes.

Abstract CHARGE syndrome was initially defined as a non-random association of anomalies (Coloboma, Heart defect, Atresia choanae, Retarded growth and development, Genital hypoplasia, Ear anomalies/deafness). In 1998, an expert group defined the major (the classical 4C's: Choanal atresia, Coloboma, Characteristic ears and Cranial nerve anomalies) and minor criteria of CHARGE syndrome. Individuals with all four major characteristics or three major and three minor characteristics are highly likely to have CHARGE syndrome. However, there have been individuals genetically identified with CHARGE syndrome without the classical choanal atresia and coloboma. The reported incidence of CHARGE syndrome ranges from 0.1–1.2/10,000 and depends on professional recognition. Coloboma mainly affects the retina. Major and minor congenital heart defects (the commonest cyanotic heart defect is tetralogy of Fallot) occur in 75–80% of patients. Choanal atresia may be membranous or bony; bilateral or unilateral. Mental retardation is variable with intelligence quotients (IQ) ranging from normal to profound retardation. Under-development of the external genitalia is a common finding in males but it is less apparent in females. Ear abnormalities include a classical finding of unusually shaped ears and hearing loss (conductive and/or nerve deafness that ranges from mild to severe deafness). Multiple cranial nerve dysfunctions are common. A behavioral phenotype for CHARGE syndrome is emerging. Mutations in the CHD7 gene (member of the chromodomain helicase DNA protein family) are detected in over 75% of patients with CHARGE syndrome. Children with CHARGE syndrome require intensive medical management as well as numerous surgical interventions. They also need multidisciplinary follow up. Some of the hidden issues of CHARGE syndrome are often forgotten, one being the feeding adaptation of these children, which needs an early aggressive approach from a feeding team. As the child develops, challenging behaviors become more common and require adaptation of educational and therapeutic services, including behavioral and pharmacological interventions.

The calcium/calmodulin-dependent protein kinase II-beta (CAMK2B) gene is important for calcium signaling and glutamatergic synapses, which impacts neuroplasticity and learning. Mutations in the CAMK2B gene, which cause autosomal dominant mental retardation 54 (Online Mendelian Inheritance in Man # 617799), can have multisystemic clinical impact. Due to the rarity of CAMK2B mutations at present, case reports about patients with CAMK2B mutations are limited. The present case report describes a patient with CAMK2B-related disorder confirmed by whole exome sequencing and adds to the current information in the literature. We review three case reports in literature with detailed descriptions of patients presenting with mutations in the CAMK2B gene. While there is a broad spectrum of phenotypic presentations, there appears to be an emerging neurobehavioral phenotype. Optimal management of patients will require attention to behavioral issues as well as involvement of neuropsychiatric expertise along with other supports for development and vision abnormalities. [ABSTRACT FROM AUTHOR]

Author(s): Peter Zhan Tao Wang [sup.1] , Chitra Prasad [sup.2] [sup.3] , Carmen Inés Rodriguez Cuellar [sup.2] , Guido Filler [sup.2] [sup.3] [sup.4] [sup.5] [sup.6] Author Affiliations: (Aff1) 0000 0004 [...], Background Galloway-Mowat syndrome (GAMOS) (OMIM #251300) is a severe autosomal recessive disease characterized by the combination of early-onset steroid-resistant nephrotic syndrome (SRNS) and microcephaly with brain anomalies caused by WDR73 as well as OSGEP, TP53RK, TPRKB, or LAGE3 mutations. Objective We report on the hitherto undescribed urological and nephrological complications of the homozygous c.974G>A (p.Arg325Gln) OSGEP mutations in a 7-year-old Caucasian girl. Case diagnosis The patient came to the attention of pediatric nephrology at the age of 3 years and 11 months, when she presented with status epilepticus due to profound hypomagnesemia (0.31 mmol/L, normal 0.65-1.05). A 24-h urine demonstrated a magnesium loss of 0.6 mmol/kg/day with associated proteinuria suggesting renal tubulopathy. Subsequently, she developed recurrent urinary tract infections (UTIs) and was diagnosed with neurogenic bladder dysfunction. The patient continued to have UTIs associated with seizures and sequential cultures growing multi-drug-resistant organisms despite of antibiotic prophylaxis. In addition, the proteinuria (median microalbumin/creatinine ratio 647 mg/mmol) increased, and she developed partial Fanconi syndrome. At age 7, she developed a large bladder calculus (3.3 x 3.2 cm) and three left non-obstructing renal calculi associated with elevated urinary cystine, hypercalciuria, and ongoing hypomagnesemia and required surgical intervention. Glomerular filtration rate (GFR) remained normal and she never developed frank nephrotic syndrome (average albumin 31 g/L). Conclusions It is unclear if patients with OSGEP mutations with tubular symptoms rather than nephrotic syndrome should be considered a different entity. Nephrological and urological complications of OSGEP mutations can be challenging and require a multidisciplinary approach.