Lesiones cervicales no cariosas: una revisión sistemática / Non carious cervical lesions: a systematic review

Introducción: las lesiones cervicales no cariosas (NCCL, por sus siglas en inglés) son un grupo de lesiones que afectan el área cervical del órgano dental causando hipersensibilidad dentinaria y defectos estéticos. Objetivo: analizar la literatura sobre las lesiones cervicales no cariosas, su etiología, consideraciones anatómicas, características morfológicas de la lesión y tratamientos no restaurativos. Material y métodos: se realizó una búsqueda en la base de datos PubMed, utilizando las palabras clave: non-carious cervical lesions OR noncarious cervical lesions OR tooth wear OR tooth erosion OR dental abfraction OR abfraction, recopilando un total de 78 artículos. Resultados: es necesario determinar la etiología antes de seleccionar las estrategias de tratamiento para las lesiones cervicales no cariosas. Conocer los distintos tipos de tejidos que componen al órgano dentario facilita la comprensión de los factores que participan en el desarrollo de las lesiones cervicales no cariosas. Esto permite que el tratamiento se enfoque más en la causa del problema que en los síntomas. Con esto podemos modificar diversos factores de manera interceptiva, los tratamientos de terapia con láser y compuestos tópicos son una estrategia mínimamente invasiva. Conclusiones: la mejor manera de describir a las lesiones cervicales no cariosas sería como una enfermedad multifactorial. Se debe prestar especial atención en los métodos de diagnóstico, identificando cofactores que propicien el avance de la lesión, como son la fricción y la biocorrosión. Esta revisión brinda datos que asocian a los factores oclusales como una de las principales causas de una enfermedad que afecta a más de la mitad de la población adulta (AU)

Introduction: non-carious cervical lesions (NCCL) are a group of lesions that affect the cervical area of the dental organ causing dentin hypersensitivity and cosmetic defects. Objective: to know, through a systematic review, the current state of non-carious cervical lesions. Material and methods: a search was conducted in the PubMed database, using the keywords: non-carious cervical lesions OR noncarious cervical lesions OR tooth wear OR tooth erosion OR dental abfraction OR abfraction, compiling a total of 78 articles. Results: determining etiology is necessary before selecting treatment strategies for non-carious cervical lesions (NCCL). Know the different types of tissues that make up the dentary organ, facilitate the understanding of the factors involved in the development of noncarious al cervical lesions. This allows treatment to focus more on the cause of the problem than on symptoms. With this we can modify various factors in an interceptive way, laser therapy treatments and topical compounds, are a minimally invasive strategy. Conclusions: the best way to describe non-carious al cervical lesions would be as a multifactorial disease to which special attention should be paid to both diagnostic methods, identifying cofactors that promote the progression of injury, such as friction and biocorrosion. This review provides data that associates occlusal factors as one of the main causes of a disease that affects more than half of the adult population (AU)

Odontología restauradora mínimamente invasiva: caso clínico / Minimally invasive restorative dentistry: a clinical case

La decoloración de las piezas dentarias puede te-ner un impacto estético y social que lleva a los pa-cientes a buscar una intervención para mejorar su sonrisa. Las manchas superficiales y las irregula-ridades del esmalte pueden deberse a hipoplasias, hipomineralización molar, fluorosis, uso de medica-mentos, manchas blancas causadas por traumatis-mos o infección en la dentición primaria, o manchas post ortodóncicas. El diagnóstico de los defectos del esmalte se realiza a través de un examen visual por transiluminación. Se han propuesto técnicas micro abrasivas con diferentes agentes para eliminar las manchas superficiales del esmalte, así también como el uso de agentes blanqueadores a baja concentra-ción para equilibrar el color de las piezas dentarias. Si las manchas son profundas se requiere de una mega abrasión y posterior restitución anatómica con resinas compuestas. Los avances tecnológicos en los materiales de restauración adhesivos permi-ten imitar las piezas dentarias naturales permitien-do la mínima destrucción de la estructura dental sin comprometer futuras opciones de restauración. El objetivo de este trabajo es mostrar una secuencia de procedimientos mínimamente invasivos para devol-ver la estética perdida en una paciente que concurre a la Cátedra de Odontología Restauradora (AU)

The discoloration of dental pieces can have an aesthetic and social impact that leads patients to seek an intervention to improve their smile. Superficial stains and enamel irregularities may be due to hypoplasia, molar hypomineralization, fluorosis, drug use, white spots caused by trauma or infection in the primary dentition, or post-orthodontic stains. The diagnosis of enamel defects is made through a visual examination by transillumination. Microabrasive techniques with different agents have been proposed to remove surface stains from the enamel, as well as the use of low-concentration whitening agents to balance the color of the teeth. If the stains are deep, a mega abrasion and subsequent anatomical restoration with composite resins are required. Technological advances in adhesive restorative materials make it possible to mimic natural teeth, allowing minimal destruction of tooth structure without compromising future restorative options. The objective of this work is to show the sequence of minimally invasive procedures to return the lost aesthetics in a patient who attends the Chair of Restorative Dentistry (AU)

Insights into the etiology and physiopathology of MODY5/HNF1B pancreatic phenotype with a mouse model of the human disease.

Maturity-onset diabetes of the young type 5 (MODY5) is due to heterozygous mutations or deletion of HNF1B. No mouse models are currently available to recapitulate the human MODY5 disease. Here, we investigate the pancreatic phenotype of a unique MODY5 mouse model generated by heterozygous insertion of a human HNF1B splicing mutation at the intron-2 splice donor site in the mouse genome. This Hnf1bsp2/+ model generated with targeted mutation of Hnf1b mimicking the c.544+1G>T (T) mutation identified in humans, results in alternative transcripts and a 38% decrease of native Hnf1b transcript levels. As a clinical feature of MODY5 patients, the hypomorphic mouse model Hnf1bsp2/+ displays glucose intolerance. Whereas Hnf1bsp2/+ isolated islets showed no altered insulin secretion, we found a 65% decrease in pancreatic insulin content associated with a 30% decrease in total large islet volume and a 20% decrease in total ß-cell volume. These defects were associated with a 30% decrease in expression of the pro-endocrine gene Neurog3 that we previously identified as a direct target of Hnf1b, showing a developmental etiology. As another clinical feature of MODY5 patients, the Hnf1bsp2/+ pancreases display exocrine dysfunction with hypoplasia. We observed chronic pancreatitis with loss of acinar cells, acinar-to-ductal metaplasia, and lipomatosis, with upregulation of signaling pathways and impaired acinar cell regeneration. This was associated with ductal cell deficiency characterized by shortened primary cilia. Importantly, the Hnf1bsp2/+ mouse model reproduces the pancreatic features of the human MODY5/HNF1B disease, providing a unique in vivo tool for molecular studies of the endocrine and exocrine defects and to advance basic and translational research. © 2021 The Authors. The Journal of Pathology published by John Wiley & Sons, Ltd. on behalf of The Pathological Society of Great Britain and Ireland.

Effect of fermented milk with kefir grains on the in vitro demineralization of bovine tooth enamel / Efecto de la leche fermentada con granos de kéfir sobre la desmineralización in vitro del esmalte dental bovino

The dental caries is a progressive destruction of the teeth tissue due to the disbalance in the normal molecule interactions between the enamel and the bio!lm, which alters the demineralization-remineralization process. Milk fermentation produces caseinphosphopeptides with proved remineralizing capacity of the enamel. The presence of these peptides in fermented milk with ke!r grains has been described. The purpose of this work was to evaluate in vitro the capacity of milk ke!r to prevent the demineralization of dental enamel. Bovine incisors (n=68, 17 per group) were treated for 72 h with different solutions: I: artificial saliva at pH 7.2 , II: demineralizing solution at pH 4.5, III: supernatant of kefir fermented milk at pH 4.5, IV: milk supernatant at pH 4.5. The effects of treatments were evaluated by the change in the weight of the specimens, calcium concentration in the solution and by scanning electron microscopy (SEM) of the enamel. Kefir milk supernatant prevented the demineralization process, that was evidenced by a change in weight and calcium concentration that were not different from group I, although the pH was 4.5. In contrast, group IV showed a decrease in weight and an increase in calcium concentration, compared with group I (one way ANOVA, p<0.05). Images of SEM agree with the values of weight and calcium concentration. These results indicate that kefir milk supernatant has a protective effect on enamel demineralization in vitro. (AU)

La caries dental es una patología debido a un desequilibrio en las interacciones moleculares normales entre el esmalte y la biopelícula, que altera el proceso de desmineralización remineralización. La fermentación de la leche produce fosfopéptidos de caseína con probada capacidad remineralizante del esmalte, y se ha descripto la presencia de estos péptidos en la leche fermentada con granos de kéfir. El propósito de este trabajo fue evaluar in vitro la capacidad del kéfir de leche para prevenir la desmineralización del esmalte dental. Sesenta y ocho incisivos bovinos (17 por grupo) fueron tratados durante 72 h con diferentes soluciones: I: saliva artificial, pH 7.2, II: solución desmineralizante, pH 4.5, III: sobrenadante de leche fermentada con kefir, pH 4.5, IV: sobrenadante de leche, pH 4.5. El proceso de desmineralización se evaluó mediante el cambio en el peso de las muestras, la concentración de calcio en la solución y microscopía electrónica de barrido (SEM) del esmalte. El sobrenadante de leche fermentada con kéfir impidió el proceso de desmineralización, que se evidenció por un cambio en el peso y la concentración de calcio que no discreparon del grupo I, a pesar de haber tenido un pH de 4.5. En contraste, el grupo IV mostró una disminución en el peso y un aumento en la concentración de calcio, en comparación con el grupo I (ANOVA a un criterio, p<0.05). Las imágenes SEM concuerdan con los cambios en el peso y la concentración de calcio en los grupos estudiados. Los datos obtenidos demuestran que el sobrenadante de la leche tratada con kéfir tiene un efecto protector sobre la desmineralización del esmalte in vitro, inducida por el pH ácido. (AU)

The effect of cadmium exposition on the structure and mechanical properties of rat incisors.

Alterations in the structure and mechanical properties of teeth in adult Wistar rats exposed to cadmium were investigated. Analyses were conducted on two sets of incisors from female and male specimens, that were intoxicated with cadmium (n = 12) or belonged to the control (n = 12). The cadmium group was administered with CdCl2 dissolved in drinking water with a dose of 4mg/kgbw for 10 weeks. The oral intake of cadmium by adult rats led to the range of structural changes in enamel morphology and its mechanical features. A significant increase of cadmium levels in the teeth in comparison to the control, a slight shift in the colour and reduction of pigmented enamel length, higher surface irregularity, a decrease of hydroxyapatite crystals size in the c-axis and simultaneous increase in pigmented enamel hardness were observed. The extent of these changes was sex-dependent and was more pronounced in males.

Phenotypic differences and similarities of monozygotic twins with maturity-onset diabetes of the young type 5.

Here, we report phenotypic differences and similarities of monozygotic twins with maturity-onset diabetes of the young type 5 harboring a partial deletion of chromosome 17q12. The proband and her twin sister manifested complete aplasia and marked hypoplasia, respectively, of the body and tail of the pancreas. Whereas both twins showed marked hypoplasia of the right kidney and multiple cysts in both kidneys, only the proband's sister showed hydronephrosis in the left kidney. The proband had profound defects in insulin and glucagon secretion, as well as mild renal dysfunction, whereas her sister had pronounced renal dysfunction accompanied by mild defects in insulin and glucagon secretion. Both twins manifested hypomagnesemia and hyperuricemia, but no apparent liver dysfunction or intellectual disability. The severity of renal and pancreatic defects differed between monozygotic twins with maturity-onset diabetes of the young type 5, suggesting that the phenotypes of this condition are determined not solely by genetic factors.

Periodontal regenerative effect of enamel matrix derivative in diabetes.

The present study aimed to investigate the periodontal regenerative effect of enamel matrix derivative (EMD) in diabetes. Thirty-six rats were assigned to streptozotocin-induced diabetes or control (non-diabetic) groups. Three-wall intrabony defects were surgically generated in the bilateral maxilla molar, followed by application of EMD or saline. Primary wound closure and defect fill were evaluated via histomorphological analysis and micro-computed tomography. mRNA expression levels of inflammatory and angiogenic factors in the defects were quantified via real-time polymerase chain reaction. Gingival fibroblasts were isolated from control animals and cultured in high-glucose (HG) or control medium. The effects of EMD on insulin resistance and PI3K/Akt/VEGF signaling were evaluated. The achievement rate of primary closure and the parameters of defect fill were significantly higher at EMD-treated site than at EMD-untreated sites in both diabetic and non-diabetic rats, although defect fill in the diabetic groups was significantly lower in the control groups on two-way repeated-measures analysis of variance (for both, p<0.05). Newly formed bone and cementum were significantly increased at EMD-treated sites in diabetic rats than at EMD-untreated sites in control rats (for both, p<0.05). Vegf was significantly upregulated at EMD-treated sites in both diabetic and non-diabetic rats (for both, p<0.05). In vitro, insulin or EMD-induced Akt phosphorylation was significantly lower in cells cultured in HG medium (p<0.05). EMD-mediated Vegf upregulation was suppressed by the Akt inhibitor wortmannin, although the effect was significantly lower in HG medium (p<0.01). In conclusion, EMD might promote periodontal tissue regeneration via Akt/VEGF signaling, even in a diabetic condition.

A case of a novel mutation in HNF1ß-related maturity-onset diabetes of the young type 5 with diabetic kidney disease complication in a Chinese family.

AIMS: Precise diagnosis of maturity-onset diabetes of the young (MODY) has proven valuable for understanding mechanism of diabetes and selecting optimal therapy. A proband and her mother with diabetic kidney disease (DKD) were studied to investigate potential genes responsible for diabetes and different severity of DKD between the parent and offspring. METHODS: The family with suspected MODY underwent mutational analyses by the whole exome sequencing (WES). Candidate pathogenic variants were validated by Sanger sequencing and tested for co-segregation. The clinical parameters of subjects were collected from medical records. RESULTS: A novel missense heterozygous mutation in exon 4 of the hepatocyte nuclear factor 1ß (HNF1ß), c.1007A > G (p.H336R), was identified in both the proband and her mother. Moreover, comparing the family's WES results, we found that the proband had acquired a KCNQ1 gene mutation from her father and acquired ACE and SORBS1 gene mutations from her mother. These three genes are known susceptibility genes of DKD and may impose additional effects contributing to DKD severity. CONCLUSIONS: A novel mutation in HNF1ß-MODY was identified in a Chinese family complicated with DKD, and the additional effect of pathogenic variants in susceptibility genes was speculated to contribute to DKD severity.

DENTAL ENAMEL FORMATION AND IMPLICATIONS FOR ORAL HEALTH AND DISEASE.

Dental enamel is the hardest and most mineralized tissue in extinct and extant vertebrate species and provides maximum durability that allows teeth to function as weapons and/or tools as well as for food processing. Enamel development and mineralization is an intricate process tightly regulated by cells of the enamel organ called ameloblasts. These heavily polarized cells form a monolayer around the developing enamel tissue and move as a single forming front in specified directions as they lay down a proteinaceous matrix that serves as a template for crystal growth. Ameloblasts maintain intercellular connections creating a semi-permeable barrier that at one end (basal/proximal) receives nutrients and ions from blood vessels, and at the opposite end (secretory/apical/distal) forms extracellular crystals within specified pH conditions. In this unique environment, ameloblasts orchestrate crystal growth via multiple cellular activities including modulating the transport of minerals and ions, pH regulation, proteolysis, and endocytosis. In many vertebrates, the bulk of the enamel tissue volume is first formed and subsequently mineralized by these same cells as they retransform their morphology and function. Cell death by apoptosis and regression are the fates of many ameloblasts following enamel maturation, and what cells remain of the enamel organ are shed during tooth eruption, or are incorporated into the tooth's epithelial attachment to the oral gingiva. In this review, we examine key aspects of dental enamel formation, from its developmental genesis to the ever-increasing wealth of data on the mechanisms mediating ionic transport, as well as the clinical outcomes resulting from abnormal ameloblast function.

Effects of Different Combinations of Er:YAG Laser-Adhesives on Enamel Demineralization and Bracket Bond Strength.

OBJECTIVE: The purpose of this study was to investigate the demineralization around brackets and shear bond strength (SBS) of brackets bonded to Er:YAG laser-irradiated enamel at different power settings with various adhesive systems combinations. METHODS: A total of 108 premolar teeth were used in this study. Teeth were assigned into three groups according to the etching procedure, then each group divided into three subgroups based on the application of different adhesive systems. There were a total of nine groups as follows. Group 1: Acid + Transbond XT Primer; group 2: Er:YAG (100 mJ, 10 Hz) etching + Transbond XT Primer; group 3: Er:YAG (200 mJ, 10 Hz) etching + Transbond XT Primer; group 4: Transbond Plus self-etching primer (SEP); group 5: Er:YAG (100 mJ, 10 Hz) etching + Transbond Plus SEP; group 6: Er:YAG (200 mJ, 10 Hz) etching + Transbond Plus SEP; group 7: Clearfil Protect Bond; group 8: Er:YAG (100 mJ, 10 Hz) etching + Clearfil Protect Bond; group 9: Er:YAG (200 mJ, 10 Hz) etching + Clearfil Protect Bond. Brackets were bonded with Transbond XT Adhesive Paste in all groups. Teeth to be evaluated for demineralization and SBS were exposed to pH and thermal cyclings, respectively. Then, demineralization samples were scanned with micro-CT to determine lesion depth values. For SBS test, a universal testing machine was used and adhesive remnant was index scored after debonding. Data were analyzed statistically. RESULTS: No significant differences were found among the lesion depth values of the various groups, except for G7 and G8, in which the lowest values were recorded. The lowest SBS values were in G7, whereas the highest were in G9. The differences between the other groups were not significant. CONCLUSIONS: Er:YAG laser did not have a positive effect on prevention of enamel demineralization. When two step self-etch adhesive is preferred for bonding brackets, laser etching at 1 W (100 mJ, 10 Hz) is suggested to improve SBS of brackets.

Histomorfología de la atrición en dientes temporarios / Histomorphology of attrition in temporary teeth

En la Facultad de Odontología de la Universidad Nacional del Nordeste, provincia de Corrientes, Argentina, se desarrolló un trabajo de investigación en el cual se estudiaron las características histológicas que presentaban el esmalte y la dentina de piezas dentarias temporarias bajo el proceso fisiológico de la atrición. Para dicho estudio, se obtuvieron 25 piezas dentarias temporarias de pacientes que concurrieron a la Cátedra de Odontopediatría para su atención. Las muestras fueron protocolizadas y clasificadas según la escala de desgaste dentario de Gerasimov modificada. Las piezas dentarias se procesaron mediante la técnica de desgaste para su observación al microscopio óptico, determinándose que el 48% de los casos el desgaste correspondía a grado I, el 36% al grado II y el resto al grado III. En los casos que afectó al esmalte únicamente se observó la sección de los prismas del esmalte. Cuando afectó esmalte y dentina en los grados II y III de la escala se observan tanto casos de dentina esclerótica como de trayectos muertos.

A research project was conducted at the School of Dentistry of the National University of the Northeast, Corrientes, Argentina. The histologic features of the enamel and dentin of temporary teeth under the physiological process of attrition were studied. For this study 25 temporary teeth were obtained from patients attending the Pediatric Dentistry Department for dental care. Samples were categorized and classified according to a modified version of Gerasimov’s tooth wear scale. The teeth were processed using the technical wear approach for observation through a microscope. It was determined that 48% of cases showed grade I wear, 36% grade II wear, and 16% grade III wear. In cases where only the dentin was affected, the section of the enamel prisms was observed. When both the enamel and the dentin were affected, reaching grade II and grade III wear levels, cases of both sclerotic dentin and dead tracts were observed.

X-Band Rapid-Scan Electron Paramagnetic Resonance of Radiation-Induced Defects in Tooth Enamel.

X-band rapid-scan electron paramagnetic resonance (EPR) spectra from tooth enamel samples irradiated with doses of 0.5, 1 and 10 Gy had substantially improved signal-to-noise relative to conventional continuous wave EPR. The radiation-induced signal in a 60 mg of a tooth enamel sample irradiated with a 0.5 Gy dose was readily characterized in spectra recorded with 34 min data acquisition times. The coefficient of variance of the calculated dose for a 1 Gy irradiated sample, based on simulation of the first-derivative spectra for three replicates as the sum of native and radiation-induced signals, was 3.9% for continuous wave and 0.4% for rapid scan.

A novel mutation of the HNF1B gene associated with hypoplastic glomerulocystic kidney disease and neonatal renal failure: a case report and mutation update.

Hepatocyte nuclear factor 1 beta (HNF1B) plays an important role in embryonic development, namely in the kidney, pancreas, liver, genital tract, and gut. Heterozygous germline mutations of HNF1B are associated with the renal cysts and diabetes syndrome (RCAD). Affected individuals may present a variety of renal developmental abnormalities and/or maturity-onset diabetes of the young (MODY). A Portuguese 19-month-old male infant was evaluated due to hypoplastic glomerulocystic kidney disease and renal dysfunction diagnosed in the neonatal period that progressed to stage 5 chronic renal disease during the first year of life. His mother was diagnosed with a solitary hypoplastic microcystic left kidney at age 20, with stage 2 chronic renal disease established at age 35, and presented bicornuate uterus, pancreatic atrophy, and gestational diabetes. DNA sequence analysis of HNF1B revealed a novel germline frameshift insertion (c.110_111insC or c.110dupC) in both the child and the mother. A review of the literature revealed a total of 106 different HNF1B mutations, in 236 mutation-positive families, comprising gross deletions (34%), missense mutations (31%), frameshift deletions or insertions (15%), nonsense mutations (11%), and splice-site mutations (8%). The study of this family with an unusual presentation of hypoplastic glomerulocystic kidney disease with neonatal renal dysfunction identified a previously unreported mutation of the HNF1B gene, thereby expanding the spectrum of known mutations associated with renal developmental disorders.

EMMPRIN/CD147 deficiency disturbs ameloblast-odontoblast cross-talk and delays enamel mineralization.

Tooth development is regulated by a series of reciprocal inductive signaling between the dental epithelium and mesenchyme, which culminates with the formation of dentin and enamel. EMMPRIN/CD147 is an Extracellular Matrix MetalloPRoteinase (MMP) INducer that mediates epithelial-mesenchymal interactions in cancer and other pathological processes and is expressed in developing teeth. Here we used EMMPRIN knockout (KO) mice to determine the functional role of EMMPRIN on dental tissue formation. We report a delay in enamel deposition and formation that is clearly distinguishable in the growing incisor and associated with a significant reduction of MMP-3 and MMP-20 expression in tooth germs of KO mice. Insufficient basement membrane degradation is evidenced by a persistent laminin immunostaining, resulting in a delay of both odontoblast and ameloblast differentiation. Consequently, enamel volume and thickness are decreased in adult mutant teeth but enamel maturation and tooth morphology are normal, as shown by micro-computed tomographic (micro-CT), nanoindentation, and scanning electron microscope analyses. In addition, the dentino-enamel junction appears as a rough calcified layer of approximately 10±5µm thick (mean±SD) in both molars and growing incisors of KO adult mice. These results indicate that EMMPRIN is involved in the epithelial-mesenchymal cross-talk during tooth development by regulating the expression of MMPs. The mild tooth phenotype observed in EMMPRIN KO mice suggests that the direct effect of EMMPRIN may be limited to a short time window, comprised between basement membrane degradation allowing direct cell contact and calcified matrix deposition.

A description of a fetal syndrome associated with HNF1B mutation and a wide intrafamilial disease variability.

MODY5, renal cysts, and diabetes syndrome are autosomal dominant entities caused by mutation in the HNF1B gene. Here we report two fetal siblings and their father who have a HNF1B missense mutation and describe the fetal phenotype associated with mutation in this gene. To the best of our knowledge two non-twin siblings with a missense mutation and a severe phenotype have not been reported previously.

Exocrine pancreatic function in hepatocyte nuclear factor 1ß-maturity-onset diabetes of the young (HNF1B-MODY) is only moderately reduced: compensatory hypersecretion from a hypoplastic pancreas.

OBJECTIVES: To examine the exocrine pancreatic function in carriers of the hepatocyte nuclear factor 1ß gene (HNF1B) mutation by direct testing. METHODS: Patients with HNF1B mutations and control subjects were assessed using rapid endoscopic secretin tests and secretin-stimulated magnetic resonance imaging. Seven patients and 25 controls underwent endoscopy, while eight patients and 20 controls had magnetic resonance imaging. Ductal function was assessed according to peak bicarbonate concentrations and acinar function was assessed according to peak digestive enzyme activities in secretin-stimulated duodenal juice. The association of pancreatic exocrine function and diabetes status with pancreatic gland volume was examined. RESULTS: The mean increase in secretin-stimulated duodenal fluid was smaller in patients than controls (4.0 vs 6.4 ml/min; P = 0.003). We found lower ductal function in patients than controls (median peak bicarbonate concentration: 73 vs 116 mEq/L; P < 0.001) and lower acinar function (median peak lipase activity: 6.4 vs 33.5 kU/ml; P = 0.01; median peak elastase activity: 0.056 vs 0.130 U/ml; P = 0.01). Pancreatic fluid volume outputs correlated significantly with pancreatic gland volumes (r² = 0.71, P = 0.008) in patients. The total fluid output to pancreatic gland volume ratios were higher in patients than controls (4.5 vs 1.3 ml/cm³; P = 0.03), suggesting compensatory hypersecretion in the remaining gland. CONCLUSION: Carriers of the HNF1B mutation have lower exocrine pancreatic function involving both ductal and acinar cells. Compensatory hypersecretion suggests that the small pancreas of HNF1B mutation carriers is attributable to hypoplasia, not atrophy.

Phenotype and outcome in hereditary tubulointerstitial nephritis secondary to UMOD mutations.

BACKGROUND: UMOD mutations cause familial juvenile hyperuricemic nephropathy (FJHN) and medullary cystic kidney disease (MCKD), although these phenotypes are nonspecific. DESIGN, SETTING, PARTICIPANTS, & MEASUREMENTS: We reviewed cases of UMOD mutations diagnosed in the genetic laboratories of Necker Hospital (Paris, France) and of Université Catholique de Louvain (Brussels, Belgium). We also analyzed patients with MCKD/FJHN but no UMOD mutation. To determine thresholds for hyperuricemia and uric-acid excretion fraction (UAEF) according to GFR, these parameters were analyzed in 1097 patients with various renal diseases and renal function levels. RESULTS: Thirty-seven distinct UMOD mutations were found in 109 patients from 45 families, all in exon 4 or 5 except for three novel mutations in exon 8. Median renal survival was 54 years. The type of mutation had a modest effect on renal survival, and intrafamilial variability was high. Detailed data available in 70 patients showed renal cysts in 24 (34.3%) of nonspecific localization in most patients. Uricemia was >75th percentile in 31 (71.4%) of 42 patients not under dialysis or allopurinol therapy. UAEF (n = 27) was <75th percentile in 70.4%. Among 136 probands with MCKD/FJHN phenotype, UMOD mutation was found in 24 (17.8%). Phenotype was not accurately predictive of UMOD mutation. Six probands had HNF1B mutations. CONCLUSIONS: Hyperuricemia disproportionate to renal function represents the hallmark of renal disease caused by UMOD mutation. Renal survival is highly variable in patients with UMOD mutation. Our data also add novel insights into the interpretation of uricemia and UAEF in patients with chronic kidney diseases.

Odontodisplasia regional: relato de caso em maxila com transpasse de linha média / Regional odontodysplasia: case report in maxilla crossing the midline

Odontodisplasia regional é uma afecção rara, não-hereditária, a qual afeta o desenvolvimento do esmalte e dentina na dentição decídua e/ou permanente. A etiologia ainda é desconhecida. Em geral, esta condição é diagnosticada durante exames radiográficos de rotina e muitos casos são diagnosticados erroneamente como dentes malformados ou odontomas. Esta condição afeta duas vezes mais o sexo feminino do que o masculino e envolve com mais frequência à maxila do que a mandíbula. Esta afecção é também mencionada como "dentes fantasmas", uma vez que os dentes afetados, radiograficamente, não apresentam distinção dos limites entre o esmalte e a dentina; e a câmara pulpar se apresenta alargada. Clinicamente os dentes são vistos com uma coloração castanha ou amarelada. O presente trabalho apresenta um caso clínico de odontodisplasia regional, não usual, que cruza a linha média da maxila, em uma criança do sexo feminino de quatro anos de idade. Todos os dentes decíduos e permanentes superiores do lado esquerdo eram displásicos, assim como também os incisivos centrais, decíduo e permanente do lado direito.

Regional odontodysplasia is a rare, nonhereditary condition that affects the development of the enamel and dentin of the deciduous and/or permanent teeth. The etiology is still unknown. In general, this condition is diagnosed during routine radiographic assessments and many cases are mistaken for malformed teeth or odontomas. This condition affects twice as many females as males and is more common in the maxilla than the jaw. This condition is also called "ghost teeth" because the enamel-dentine border of the affected teeth cannot be distinguished in the radiograph and the pulp chambers are wide. Clinically, the teeth are brownish or yellowish. The present study reports an unusual case of maxillary regional odontodysplasia crossing the midline in a 4-year-old female. All deciduous and permanent teeth in the left side of the maxilla and the central incisors in the right side of the maxilla were dysplastic.

Alkali soluble fluoride deposits on bovine dental enamel after treatment with a mouthwash containing fluoride and chlorhexidine / Deposição de fluoreto solúvel em álcali no esmalte dental bovino após tratamento com um enxaguatóriocontendo fluoreto e clorexidina

Aim: The aim of this in vitro study was to determine whether the addition of chlorhexidine (CHX)to a mouthwash containing fluoride (F) diminishes the concentration of soluble F and its reactivity withbovine dental enamel. Materials and Methods: First, the concentration of F found in mouthwashs wasdetermined by an ion-specific electrode. To test their reactivity, 30 slabs of bovine dental enamel (5 x 5mm)were distributed into three groups (n = 10), according to the treatment applied, for 30 seconds: controlgroup (distilled deionized water); NaF group (0.05% sodium fluoride); NaF + CHX group (Noplak Max®:0.05% sodium fluoride + 0.12% chlorhexidine digluconate). After, the slabs were washed with distilleddeionized water and individually immersed in artificial saliva for 30 minutes. They were dried and thenindividually immersed in 0.5 mL of 1M KOH for 24 hours, under agitation. After buffering the samples withHCI containing TISAB II, the concentration of F present in the KOH solutions was determined be means ofan ion-specific electrode. Results: No significant difference in the concentration of soluble F in the studiedmouthwashs (NaF and NaF+CHX; Student’s t-test, p > 0.05) could be observed. Furthermore, no differencecould be identified among the alkali soluble fluoride deposits from the NaF and NaF+CHX groups, andboth groups presented higher deposit levels than did the control group (Kruskal-Wallis and Dunn´s method,p < 0.05). Conclusion: The addition of CHX to a mouthwash containing F did not decrease its soluble Fconcentration, nor its reactivity to bovine dental enamel.

Premolar hypodontia is a common feature in Sotos syndrome with a mutation in the NSD1 gene.

The major diagnostic manifestations in Sotos syndrome include frontal bossing, downward slanting palpebral fissures, a prominent jaw, learning disability, and childhood overgrowth. Over 90% of clinically diagnosed patients have an abnormality in the NSD1 gene. We investigated the dental manifestations of this disorder and found one or several premolar teeth were absent in 9 out of 13 (69%) affected children and adolescents. A heterozygous mutation in the NSD1 gene was identified in 12 patients, including all patients with hypodontia. The severity of the hypodontia seemed to increase with the severity of aberration of the NSD1. More than 50% of the patients had enamel defects or excessive tooth wear. Dental age, based on tooth formation, was within the normal range. A characteristic occlusion for Sotos syndrome could not be identified. As agenesis of premolars was a common feature in these patients affected with Sotos syndrome, we recommend panoramic radiography at the age of 7 years. If premolars are missing, proper preventive and restorative care is necessary to maintain the deciduous molars.