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BACKGROUND: Limited data, primarily from small case series, exist regarding the clinical profile, genetic variants, and outcomes of WDR72-associated distal renal tubular acidosis (WDR72-dRTA). METHODS: Our study enrolled children diagnosed with WDR72-dRTA below 18 years of age from 9 Indian centers and analyzed their clinical characteristics, genetic profiles, and outcomes. Potential genotype-phenotype correlations were explored. RESULTS: We report 22 patients (59% female) with WDR72-dRTA who were diagnosed at a median age of 5.3 (3, 8) years with polyuria (n = 17; 77.3%), poor growth (16; 72.7%), and rickets (9; 40.9%). Amelogenesis imperfecta was present in 21 (95.5%) cases. At presentation, all patients had normal anion gap metabolic acidosis; hypokalemia and nephrocalcinosis were seen in 17 (77.3%) patients each. Seven (31.8%) patients had concomitant proximal tubular dysfunction. Genetic analysis identified biallelic nonsense variants in 18 (81.8%) patients, including novel variants in 6 cases. A previously reported variant, c.88C > T, and a novel variant, c.655C > T, were the most frequent variants, accounting for 10 (45.5%) cases. Over a median follow-up of 1.3 (1, 8) years, the height velocity improved by 0.74 (0.2, 1.2) standard deviation scores, while 3 children (13.6%) progressed to chronic kidney disease (CKD) stage 2, with eGFR ranging from 67 to 76 mL/min/1.73 m2, respectively, after 11.3-16 years of follow-up. No specific genotype-phenotype correlation could be established. CONCLUSIONS: WDR72-dRTA should be considered in children with typical features of amelogenesis imperfecta and dRTA. Biallelic nonsense variants are common in Asians. While most patients respond well to treatment with improved growth and preserved eGFR, on long-term follow-up, a decline in eGFR may occur.
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The aim of this article is to identify the prevalence of posttraumatic psychological symptoms following maxillofacial trauma among an Indian population sample and assess changes in these symptoms over a period of time. Forty-eight adult patients were assessed within 2 weeks of injury with two follow-up visits (4-6 weeks and 12-14 weeks). Patients were administered three self-reporting questionnaires in local language (GHQ-12; HADS; TSQ) on all occasions. Relevant sociodemographic and clinical data were obtained. Forty patients were included in the final analysis. Emotional distress was present in nine participants and five participants satisfied the TSQ criteria for a diagnosis of stress disorder. Anxiety and depression were observed in 10 and 4 patients, respectively. Characteristics associated with abnormal high scores included substance abuse, low education and income levels, facial scars, and complications needing additional intervention. These findings reveal the abnormal psychological response to maxillofacial trauma in immediate and follow-up periods. The use of such screening tools can be considered by the maxillofacial surgeon for early identification of psychological symptoms and referral to the psychiatrist.
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Unexpected foreign bodies are occasionally discovered during magnetic resonance imaging (MRI). These are often present unknown to the patient, missed during routine pre-MRI screening and result in unnecessary delay during MRI. The authors present a patient with traumatically embedded foreign body in the scalp that escaped pre-MRI screening and caused susceptibility artifacts during brain MRI. The object was surgically removed to allow the imaging to be completed. Patients with suspicion or history of facial trauma or with dental restorations are referred to concerned specialists for compatibility of hardware, restorations and for assessing risks during MRI due to these. This patient is presented as a reminder for clinicians to probe further during anamnesis and have a high index of suspicion for foreign bodies that may be present even after trivial injuries.
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Artefatos , Encéfalo/diagnóstico por imagem , Corpos Estranhos , Imageamento por Ressonância Magnética/métodos , Couro Cabeludo , Corpos Estranhos/diagnóstico por imagem , Corpos Estranhos/patologia , Humanos , Couro Cabeludo/diagnóstico por imagem , Couro Cabeludo/patologiaRESUMO
Mandibular fractures are commonly encountered by the maxillofacial surgeon. Maxillomandibular fixation (MMF) and open reduction and internal fixation (ORIF), or a combination of both, are the accepted standard treatments. This study aims to assess the role of a conservative minimal intervention protocol in the management of undisplaced/minimally displaced fractures of the dentate portion of the adult mandible and the complications associated with such minimalistic intervention. Thirty-four patients with undisplaced/minimally displaced fractures of the dentate portion of the adult mandible were advised to restrict mouth opening and limit themselves to a soft diet for a minimum of 4 weeks. All patients were advised follow-up at regular intervals for at least 3 months. Five patients were lost to follow-up. Symphysis and parasymphysis fractures were the most common fracture locations. Fourteen patients needed tension band stabilization with a mandibular arch bar/bridle wiring and three patients required extraction of luxated teeth. All patients showed satisfactory healing except three in whom additional intervention (ORIF) was performed. The improvement in mouth opening was statistically significant. Complications were seen more frequently among smokers and alcoholics. For patients with minimally displaced mandibular fractures, it is necessary to consider if the perceived benefits of intervention justify the associated added costs and possible complications. Patients have to be fully informed about the possible complications while using this minimal intervention protocol. This study concludes that a conservative minimal intervention management protocol for such fractures of the dentate portion of the mandible can produce satisfactory results.
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Traumatismos Faciais/diagnóstico por imagem , Fraturas Ósseas/diagnóstico por imagem , Incisivo/diagnóstico por imagem , Incisivo/lesões , Nariz/diagnóstico por imagem , Traumatismos Faciais/complicações , Fraturas Ósseas/complicações , Humanos , Masculino , Mandíbula , Tomografia Computadorizada por Raios X , Adulto JovemAssuntos
Paraquat/intoxicação , Doenças da Língua/induzido quimicamente , Úlcera/induzido quimicamente , Adulto , Anestésicos Locais/uso terapêutico , Anti-Infecciosos/uso terapêutico , Benzocaína/uso terapêutico , Géis , Herbicidas/intoxicação , Humanos , Masculino , Metronidazol/uso terapêutico , Tentativa de Suicídio , Doenças da Língua/tratamento farmacológico , Úlcera/tratamento farmacológico , Adulto JovemRESUMO
Atypical fracture patterns of the facial region have been reported infrequently. An unusual displacement of fractured posterior maxillary segment into the lateral pharyngeal space is described.
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Oral health is affected by hormonal changes during pregnancy but is usually neglected by both the obstetrician and the patient during follow-up visits. Gingival enlargement is one of the most common oral lesions seen during pregnancy. Rarely, gingival enlargement can be very big, significantly affecting maternal nutrition and impairing haemodynamic status. A giant granuloma gravidarium and appropriate management strategies are discussed. Patients must be encouraged to undergo regular dental check-ups during pregnancy. Simple oral hygiene measures are highly effective in mitigating most oral lesions of pregnancy.
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Doenças da Gengiva/patologia , Granuloma/patologia , Complicações na Gravidez/patologia , Adulto , Feminino , Doenças da Gengiva/cirurgia , Granuloma/cirurgia , Humanos , Gravidez , Complicações na Gravidez/cirurgiaRESUMO
BACKGROUND: Hepatocellular carcinoma (HCC) is the second leading cause of cancer death in many regions of Asia and the etiology of human HCC is clearly multi-factorial. The development of effective markers for the detection of HCC could have an impact on cancer mortality and significant health implications worldwide. The subjects presented here were recruited based on the serum alpha-fetoprotein level, which is an effective marker for HCC. Further, the chromosomal alterations were elucidated using trypsin G-banding. HCCs with p53 mutations have high malignant potential and are used as an indicator for the biological behavior of recurrent HCCs. The functional polymorphism in the XRCC1 gene, which participates in the base-excision repair of oxidative DNA damage, was associated with increased risk of early onset HCC. Thus, in this investigation, the p53 and XRCC1 gene polymorphisms using the standard protocols were also assessed to find out whether these genes may be associated with HCC susceptibility. METHODS: Blood samples from HCC patients (n = 93) were collected from oncology clinics in South India. Control subjects (n = 93) who had no history of tumors were selected and they were matched to cases on sex, age, and race. Peripheral blood was analyzed for chromosomal aberrations (CAs) and micronuclei (MN) formation. p53 and XRCC1 genotypes were detected using a PCR-RFLP technique. RESULTS: Specific biomarkers on cytogenetic endpoints might help in diagnosis and treatment measures. The frequencies of genotypes between groups were calculated by χ(2) test. A statistically significant (p < 0.05) increase in CA was observed in HCC patients compared to their controls as confirmed by ANOVA and MN shows insignificant results. The study on p53 Arg72Pro and XRCC1 Arg399Gln polymorphism in HCC patients demonstrated differences in allele frequencies compared to their controls. CONCLUSIONS: The present study indicates that chromosomal alterations and the genetic variations of p53 and XRCC1 may contribute to inter-individual susceptibility to HCC. A very limited role of genetic polymorphism was investigated in modulating the HCC risk, but the combined effect of these variants may interact to increase the risk of HCC in the South Indian population.
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Carcinoma Hepatocelular/genética , Dano ao DNA , Predisposição Genética para Doença , Neoplasias Hepáticas/genética , Polimorfismo Genético , Adulto , Carcinoma Hepatocelular/epidemiologia , Feminino , Genótipo , Humanos , Índia/epidemiologia , Neoplasias Hepáticas/epidemiologia , Masculino , Pessoa de Meia-Idade , Razão de ChancesAssuntos
Bradicardia/etiologia , Craniotomia/efeitos adversos , Procedimentos Cirúrgicos Bucais/efeitos adversos , Procedimentos Cirúrgicos Ortognáticos/efeitos adversos , Reflexo Oculocardíaco/fisiologia , Anestésicos Locais/administração & dosagem , Humanos , Bloqueio Nervoso , Fatores de Risco , Vasoconstritores/administração & dosagemRESUMO
Sialolithiasis is one of the most common diseases of the salivary gland, but giant sialoliths have been reported in the literature infrequently. The submandibular gland and its duct appear to be the sites most susceptible to this disease. We report 2 cases of giant sialoliths occurring solely in the submandibular duct. In both cases, transoral removal of the stone was performed under local anesthesia; one of the stones was 35 mm long and the other was 25 mm long. The patients' glands were managed conservatively with sialagogues and analgesics. The glands recovered normal function quickly after removal of the stones, which is noteworthy because such long-standing stones usually produce irreversible functional damage. Follow-up showed asymptomatic and normally functioning glands. The authors conclude that a conservative approach will spare the patient the morbidity associated with gland removal.
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Cálculos das Glândulas Salivares/cirurgia , Glândula Submandibular/cirurgia , Adulto , Analgésicos/uso terapêutico , Feminino , Humanos , Masculino , Cálculos das Glândulas Salivares/diagnóstico , Cálculos das Glândulas Salivares/tratamento farmacológico , Cálculos das Glândulas Salivares/patologia , Glândula Submandibular/patologiaRESUMO
INTRODUCTION: A majority of odontogenic infections can be successfully managed with routine incision and drainage and empirical antibiotics. Sometimes an odontogenic infection may spread to contiguous spaces and descend along the neck causing significant morbidity and rarely even mortality. CASE REPORT: We report a case of an odontogenic infection which had an unusual spread to the anterior chest wall.
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Abscesso/etiologia , Infecção Focal Dentária/complicações , Doenças Torácicas/etiologia , Parede Torácica/microbiologia , Adulto , Celulite (Flegmão)/etiologia , Infecções por Bactérias Gram-Positivas/complicações , Humanos , Masculino , Dente Serotino/cirurgia , Peptostreptococcus/isolamento & purificação , Propionibacterium/isolamento & purificação , Infecções Estreptocócicas/complicações , Streptococcus mitis/isolamento & purificação , Streptococcus sanguis/isolamento & purificação , Infecção da Ferida Cirúrgica/complicações , Extração Dentária , Dente Impactado/cirurgiaRESUMO
The aim of the present study was to identify genetic alterations occurring in rotograving workers chronically exposed to toluene. A total of 60 samples from 30 exposed subjects and 30 age-matched controls, selected based on the toluene level present in their urine, were recruited. Exposed subjects were categorized based on their duration of exposure and smoking habitats. Controls were normal and healthy and categorized based on their smoking habits. Cell cultures were established from blood samples collected from the control and experimental subjects after obtaining informed consent. G-banding and comet assays were used to identify genetic alterations. A higher degree of total chromosome aberration was identified in exposed subjects compared to controls. As expected, controls exhibited minimal number of alterations. The overall CA frequency due to toluene exposure was significantly different from that of the controls for both chromatid and chromosome type aberrations (P\0.05 by ANOVA). . The habit of cigarette smoking among the workers had a synergistic effect on inducing DNA damage. In conclusion, this work shows a clear genotoxic effect associated with toluene exposure, our results also reinforcing the conclusion of higher sensitivity of cytogenetic assays for the biomonitoring of occupationally exposed populations. There is a strong need to educate those who work with potentially hazardous materials about adverse effects and highlight the importance of using protective measures.
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Poluentes Ocupacionais do Ar/efeitos adversos , Aberrações Cromossômicas , Exposição Ocupacional/efeitos adversos , Solventes/efeitos adversos , Tolueno/efeitos adversos , Adulto , Análise Citogenética , Dano ao DNA , Monitoramento Ambiental , Humanos , Pessoa de Meia-Idade , PrognósticoRESUMO
PURPOSE: To determine the incidence of postoperative nausea and vomiting (PONV) after oral and maxillofacial surgical procedures and to evaluate the rationale behind prophylactic antiemetic medications. MATERIALS AND METHODS: A total of 167 patients, irrespective of age and gender, undergoing oral and maxillofacial surgical procedures under general anesthesia/dissociative anesthesia, were included. Risk factors associated with PONV such as gender, type of anesthetic agent used, nature of surgical procedure, surgical approach used, and duration of surgery and postoperative use of opioids were assessed. A "watch and wait" policy was adopted in all cases of recorded PONV with gastric lavage (GL) to be performed in patients with more than 2 episodes of PONV in the 6-hour postoperative period. The efficacy of such an intervention was also assessed. Antiemetic medications were given in only those cases which did not respond favorably to GL. A chi(2) test was performed using SPSS software (Chicago, IL) to determine statistical significance. RESULTS: Of the 167 patients included, 19 patients experienced episodes of PONV. GL was performed in 3 patients, and all showed cessation of emesis after this intervention. No antiemetic medications were administered. A significant association was observed between PONV and female gender, duration of surgery, type of anesthetic agent used, and specific surgical procedures such as oncologic and temporomandibular joint surgeries. The role of surgical approach and the use of opioids in the postoperative period on the incidence of PONV were found to be insignificant. CONCLUSIONS: Information regarding the incidence of PONV after oral and maxillofacial surgical procedures remains scanty. We conclude that there does not appear to be a rationale for the prophylactic administration of antiemetic drugs in such surgical procedures. A watch-and-wait policy and simple GL may provide significant relief. Antiemetic medications are to be considered only in case of non-responders and intractable PONV.
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Antieméticos/administração & dosagem , Procedimentos Cirúrgicos Bucais/efeitos adversos , Náusea e Vômito Pós-Operatórios/etiologia , Náusea e Vômito Pós-Operatórios/prevenção & controle , Cuidados Pré-Operatórios/estatística & dados numéricos , Adolescente , Adulto , Idoso , Anestesia Dentária/efeitos adversos , Anestesia Dentária/métodos , Anestesia Geral/efeitos adversos , Anestésicos Dissociativos/efeitos adversos , Anestésicos Inalatórios/efeitos adversos , Criança , Feminino , Lavagem Gástrica , Halotano/efeitos adversos , Humanos , Ketamina/efeitos adversos , Masculino , Pessoa de Meia-Idade , Óxido Nitroso/efeitos adversos , Náusea e Vômito Pós-Operatórios/terapia , Fatores de Risco , Adulto JovemRESUMO
The incidence of obesity is rising in many countries around the world. With obesity exerting a direct impact on oral health, more obese patients are likely to report for oral and maxillofacial surgical procedures. The obese patient population presents with unique anatomic and physiologic challenges that can significantly influence treatment strategies. The implications of obesity must be understood by the maxillofacial surgeon to avoid potential pitfalls. This study focuses on the relevant issues concerning obesity with regard to oral and maxillofacial surgery.