Outcomes of children with idiopathic steroid resistant nephrotic syndrome: a single centre observational study / Desfechos de crianças com síndrome nefrótica idiopática córtico-resistente: um estudo observacional de centro único

ABSTRACT Introduction: Idiopathic steroid resistant nephrotic syndrome (SRNS) has variable outcomes in children. The primary objective of the present study was to assess the cumulative remission rate and the secondary objectives were to assess factors affecting the remission status, kidney function survival, and adverse effects of medications. Methods: One hundred fourteen patients with SRNS were included. Calcineurin inhibitor-based treatment protocol along with prednisolone and angiotensin-converting enzyme inhibitor were used, and patients were followed over 5 years. Results: Median age was 4.5 years; 53.5% of cases were between 1 to 5 years of age. Sixty-two patients (54.4%) were at initial stage and 52 (45.6%) were at a late SRNS stage. Median eGFRcr was 83.5 mL/min/1.73m2 at presentation. Of the 110 patients, 63 (57.3%) achieved remission [complete remission 30 (27.3%), partial remission 33 (30%)], and 47 (42.7%) had no remission. Kidney function survival was 87.3% and 14 cases (12.7%) had progression to CKD (G3-8, G4-3, G5-1, and G5D-2). Median duration of follow up was 36 months (IQR 24, 60). Age of onset, cyclosporine/tacrolimus, eGFRcr, and histopathology (MCD/FSGS) did not affect remission. Similarly, remission status in addition to age of onset, drug protocol, and histopathology did not significantly affect kidney function during a period of 5 years. Hypertension, cushingoid facies, short stature, cataract, and obesity were observed in 37.7, 29.8, 25.5, 17.5, and 0.7% of cases, respectively. Conclusion: About half of the cases achieved remission. Age of onset of disease, cyclosporine/tacrolimus use, and histopathological lesion neither affected remission status nor short-term kidney function survival in SRNS.

RESUMO Introdução: A síndrome nefrótica idiopática córtico-resistente (SNICR) apresenta desfechos variáveis em crianças. O objetivo principal deste estudo foi avaliar a taxa de remissão cumulativa. Os objetivos secundários foram avaliar fatores que afetam status de remissão, sobrevida da função renal e efeitos adversos de medicamentos. Métodos: Foram incluídos 114 pacientes com SNCR. Utilizou-se protocolo de tratamento baseado em inibidores de calcineurina juntamente com prednisolona e inibidor da enzima conversora de angiotensina. Os pacientes foram acompanhados durante 5 anos. Resultados: A idade mediana foi 4,5 anos; 53,5% dos casos tinham entre 1 e 5 anos. 62 pacientes (54,4%) estavam em estágio inicial; 52 (45,6%) em estágio tardio da SNCR. A TFGecr mediana foi 83,5 mL/min/1,73 m2 na apresentação. Dos 110 pacientes, 63 (57,3%) alcançaram remissão [remissão completa 30 (27,3%), remissão parcial 33 (30%)], e 47 (42,7%) não apresentaram remissão. A sobrevida da função renal foi 87,3%; 14 casos (12,7%) progrediram para DRC (G3-8, G4-3, G5-1, G5D-2). A duração mediana do acompanhamento foi 36 meses (IIQ 24, 60). Idade no início, ciclosporina/tacrolimus, TFGecr e histopatologia (DLM/GESF) não afetaram a remissão. Igualmente, status de remissão, além da idade no início, protocolo de medicamentos e histopatologia não afetaram significativamente a função renal por 5 anos. Observou-se hipertensão, fácies cushingoide, baixa estatura, catarata e obesidade em 37,7; 29,8; 25,5; 17,5; e 0,7% dos casos, respectivamente. Conclusão: Aproximadamente metade dos casos alcançou remissão. Idade no início, uso de ciclosporina/tacrolimus e lesão histopatológica não afetaram o status de remissão nem a sobrevida da função renal a curto prazo na SNICR.

Persistence of behavioral abnormalities following corticosteroid therapy in children with initial episode of idiopathic nephrotic syndrome: a prospective longitudinal observation / Persistência de anormalidades comportamentais após corticoterapia em crianças com episódio inicial de síndrome nefrótica idiopática: uma observação longitudinal prospectiva

Abstract Introduction: Treatment of nephrotic syndrome with corticosteroid can cause several side- effects including behavioral abnormalities. The objectives of the study were to observe the proportion of non-relapsers having persistence of behavioral abnormalities after completion of treatment of initial episode and compare the abnormalities with relapsers, and to determine risk factors for persistence. Methods: Seventy-five children with a first episode of idiopathic nephrotic syndrome and 60 normal children were rated by parents for behavioral problems using the Child Behavior Checklist. The Parenting Stress Index was also evaluated. The children were rated before treatment and 12 and 36 weeks after. Results: Both relapsers and non-relapsers showed abnormalities in internalizing and externalizing domains at 12 weeks of steroid therapy. Non-relapsers had abnormal scores in the internalizing domain in 63.5 % and externalizing domain in 48.1% of cases at 36 weeks. Relapsers had abnormal scores in all the three behavior domains, but a significantly higher proportion of relapsers had abnormal scores regarding total behavior (65.2% vs 28.8%, p<0.01) and child domains (100% vs 57.7%, p<0.001) of Parenting Stress Index in comparison to non-relapsers at 36 weeks. Occurrence of relapse increased the risk (odds ratio 5.76, 95% CI 1.35-10.76, p< 0.001) for persistence of abnormal total behavior at 36 weeks follow-up. Conclusion: Persistence of abnormalities was observed not only in relapsers but also in non-relapsers. Relapse was found to be a significant risk factor for persistence of abnormal behaviors in these patients.

Resumo Introdução: O tratamento da síndrome nefrótica com corticosteroide pode causar vários efeitos colaterais, incluindo anormalidades comportamentais. Os objetivos do estudo foram observar a proporção de não-recidivos com persistência de anormalidades comportamentais após conclusão do tratamento do episódio inicial, comparar as anormalidades com os recidivos, e determinar fatores de risco para persistência. Métodos: 75 crianças com primeiro episódio de síndrome nefrótica idiopática e 60 crianças normais foram avaliadas pelos pais por problemas comportamentais usando o Checklist de Comportamento Infantil. O Índice de Estresse Parental também foi avaliado. As crianças foram avaliadas antes do tratamento, 12 e 36 semanas após. Resultados: Tanto recidivos quanto não recidivos mostraram anormalidades nos domínios de internalização e externalização às 12 semanas de terapia com esteroides. Não-recidivos apresentaram pontuações anormais no domínio de internalização em 63,5%, e no domínio de externalização, em 48,1% dos casos em 36 semanas. Recidivos tiveram pontuações anormais em todos os três domínios de comportamento, mas uma proporção significativamente maior de recidivos apresentou pontuações anormais em relação ao comportamento total (65,2% vs 28,8%, p<0,01) e domínios infantis (100% vs 57,7%, p<0,001) do Índice de Estresse Parental em comparação com não recidivos às 36 semanas. A ocorrência de recidiva aumentou o risco (odds ratio 5,76, 95% IC 1,35-10,76, p< 0,001) de persistência de comportamento total anormal em 36 semanas de acompanhamento. Conclusão: A persistência de anormalidades foi observada não apenas em recidivos, mas também em não recidivos. A recidiva foi um fator de risco significativo para a persistência de comportamentos anormais nesses pacientes.

A Comparative Study of the Effect of Primary and Secondary Closure Technique Following Removal of Impacted Mandibular Third Molars

Introduction: Surgical removal of the impacted mandibularthird molar is one of the most frequently performed surgicalprocedures in oral and maxillofacial surgery. The purpose ofthis study was to compare the primary and secondary woundclosure after surgical removal of impacted mandibular thirdmolars by evaluating the extent of facial swelling, the severityof pain and degree of trismus.Material and Methods: A prospective, randomized,clinical trial was conducted in 80 patients. The patients wererandomly divided into two groups of 40 each. In Group 1:patients underwent primary closure of the wound and inGroup 2: patients underwent secondary closure of the wound.Postoperative pain, swelling, and trismus were evaluated onthe 2nd and 7th day postoperatively.Results: Statistically significant difference was observed forfacial swelling and trismus on 2nd postoperative days betweenboth groups. Postoperative pain was less in the secondaryclosure group.Conclusion: From the outcome of the above study we canconclude that the secondary wound closure technique has asignificant advantage over primary wound closure concerningswelling and trismus.

Optical Coherence Tomography; A Modern Technique to Detect Oral Mucosal Lesion: A Review.

Early detection and management of potentially malignant oral lesions can significantly reduce progression of these lesions into invasive cancer, and would thus reduce morbidity and fatality rate. Cancerous and potentially malignant lesions show dysplastic feature which is mostly detected by biopsy. However, biopsy has a certain constraints like (i) biopsy can cause delay in the result, (ii) experienced pathologist must expound the biopsy sample (iii) sometimes can cause spread of cancer cells, (iv) cannot be done repeatedly. Therefore, in potentially malignant lesions and cancer optical coherence tomography (OCT) is utilized to detect early dysplastic changes. Therefore, we are presenting a review on the applications of OCT in oral mucosal lesions.

Temporomandibular Joint Manifestations in Rheumatoid Arthritis: A Case Report.

Rheumatoid arthritis (RA) is a chronic infl ammatory disease characterized by joint swelling, joint tenderness, and ravagement of synovial joints, leading to rigorous incapacitation, and premature mortality. It was fi rst described by Dr. Augustin Jacob Landr´e-Beauvais in 1800. RA aff ects about 1% population worldwide. Temporomandibular joint (TMJ) involvement is usually found along with the involvement of the joints of the hands and feet. TMJ involvement is associated with pain, infl ammation, limited joint movements, swelling, joint stiff ness, and muscle spasm. Radiological features include cortical erosion, decreased joint space, de-ossifi cation, sharpen pencil head or spiked deformity or mouthpiece of fl ute deformity of the condylar head. Clinical examination and investigations (radiographic and hematological) remain the mainstay of diagnosis. Here, we present a case of RA of TMJ along the joints of the hands and feet.

Gender differences in the association between tooth loss and obesity among older adults in Brazil / Diferenças de gêneros na associação entre perda dentária e obesidade entre idosos brasileiros

OBJECTIVE To analyze if differences according to gender exists in the association between tooth loss and obesity among older adults. METHODS We analyzed data on 1,704 older adults (60 years and over) from the baseline of a prospective cohort study conducted in Florianopolis, SC, Southern Brazil. Multivariable logistic regression models were used to assess the association between tooth loss and general and central obesity after adjustment for confounders (age, gender, skin color, educational attainment, income, smoking, physical activity, use of dentures, hypertension, and diabetes). Linear regressions were also assessed with body mass index and waist circumference as continuous outcomes. Interaction between gender and tooth loss was further assessed. RESULTS Overall mean body mass index was 28.0 kg/m2. Mean waist circumference was 96.8 cm for males and 92.6 cm for females. Increasing tooth loss was positively associated with increased body mass index and waist circumference after adjustment for confounders. Edentates had 1.4 (95%CI 1.1;1.9) times higher odds of being centrally obese than individuals with a higher number of teeth; however, the association lost significance after adjustment for confounders. In comparison with edentate males, edentate females presented a twofold higher adjusted prevalence of general and central obesity. In the joint effects model, edentate females had a 3.8 (95%CI 2.2;6.6) times higher odds to be centrally obese in comparison with males with more than 10 teeth present in both the arches. Similarly, females with less than 10 teeth in at least one arch had a 2.7 (95%CI 1.6;4.4) times higher odds ratio of having central obesity in comparison with males with more than 10 teeth present in both the arches. CONCLUSIONS Central obesity was more prevalent than general obesity among the older adults. We did not observe any association between general obesity and tooth loss. The association between central obesity and tooth loss depends on gender ­ females with tooth loss had greater probability of being obese.(AU)

OBJETIVO Analisar se há diferenças entre gêneros na associação entre obesidade e perda dentária em idosos. MÉTODOS Foram avaliados dados de 1.704 idosos (60 anos ou mais) da linha de base de um estudo de coorte prospectivo realizado em Florianópolis, SC. Modelos de regressão logística multivariáveis foram realizados para aferição da associação entre perda dentária e obesidade geral e central, ajustados por variáveis de confusão (idade, gênero, cor da pele, educação, renda, tabagismo, atividade física, uso de prótese dentária, hipertensão e diabetes). Na regressão linear, índice de massa corporal e circunferência da cintura foram tratados como variáveis contínuas. Foi avaliada também a interação entre gênero e perda dentária. RESULTADOS A média geral do índice de massa corporal foi 28,0. A média de circunferência da cintura foi de 96,8 cm para homens e 92,6 cm para mulheres. O aumento da perda dentária associou-se positivamente com o aumento do índice de massa corporal e da circunferência da cintura, após ajuste por variáveis de confusão. Edêntulos apresentaram chance 1,4 (IC95% 1,1;1,9) vez maior de apresentarem obesidade central quando comparados com aqueles com maior número de dentes presentes; entretanto, a associação perdeu significância estatística após o ajuste pelas variáveis de confusão. Comparadas com homens edêntulos, mulheres edêntulas apresentaram prevalência ajustada de obesidade geral e central duas vezes maior. No modelo de efeitos conjuntos, mulheres edêntulas tiveram uma razão de chances 3,8 (IC95% 2,2;6,6) vezes maior de apresentarem obesidade central, quando comparadas com homens com mais de 10 dentes presentes em ambas as arcadas. De maneira similar, mulheres com menos de 10 dentes presentes em pelo menos uma arcada tiveram uma razão de chances 2,7 (IC95% 1,6;4,4) vezes maior de terem obesidade central quando comparadas com homens com mais de 10 dentes presentes em ambas arcadas. CONCLUSÕES Obesidade central foi mais prevalente que obesidade geral em idosos. Não foram encontradas associações entre obesidade geral e perda dentária. Associação entre obesidade central e perda dentária depende do gênero ­ mulheres com perdas dentárias apresentaram maior probabilidade de serem obesas.(AU)

Delayed Presentation of Rickets in a Child with Labyrinthine Aplasia, Microtia and Microdontia (LAMM) Syndrome.

Background: Labyrinthine Aplasia, Microtia and Microdontia (LAMM) syndrome is characterized by the complete absence of inner ear structures (Michel aplasia), microtia and microdontia. Hypophosphatemic rickets results from defects in the renal tubular reabsorption of filtered phosphate. Case characteristics: 13-year-old Indian girl presented with deafness since infancy and progressive wrist widening and genu valgum for last one year. Observation: Homozygous novel missense mutation in fibroblast growth factor 3. Message: LAMM syndrome and hypophosphatemic rickets may be associated.

Heparin Co-factor II Thrombin Complex as a Biomarker for Mucopolysaccharidosis: Indian Experience.

Background: Serum heparin cofactor II-thrombin complex (HCII-T) is an emerging biomarker for mucopolysaccharidosis disease (MPS I and MPS II). Methods: Seventeen cases (6 MPS I and 11 MPS II) and sixty healthy controls were enrolled in study, conducted from September 2008 to December 2012. The mean ± SD age of MPS1 (n=6, 5 males) and MPS II was 7.02 ± 3.25 and 5.2 ± 2.15 years, respectively. Disease status was confirmed by clinical features and enzyme assay. Urinary glycosaminoglycans were measured in spot urine samples and expressed in relation to creatinine content. HCIIT measurement was done using sandwich ELISA at enrolment and after 12 and 24 months of recruitment. Results: Urinary glycosaminoglycans and HCIIT were elevated in all patients compared to their healthy controls. Both markers could not discriminate between the type of mucopolysaccharidosis. Conclusion: Heparin Cofactor II Thrombin Complex is a good biomarker for mucopolysaccharidosis I and II.

Intellectual Disability in Indian Children: Experience with a Stratified Approach for Etiological Diagnosis.

Objective: To study the clinico-etiological profile of children with intellectual disability using an algorithmic approach. Design: Cross-sectional study. Setting: Tertiary care centre in Northern India. Participants: Consecutive children aged 3 months to 12 years, presenting with intellectual disability, confirmed by Developmental Assessment Scale for Indian Infants, Binet Kulshreshtha Test and Vineland Social Maturity Scale. Method: All children were assessed on an internally validated structured proforma. A targeted approach included thyroid function tests, Brainstem evoked response audiometry, electroencephalogram, neuroimaging and metabolic screen done as a pre-decided schema. Genetic tests included karyotyping, molecular studies for Fragile X, Multiplex Ligation Dependent Probe Amplification and Array Comparative Genomic Hybridisation. Results: Data of 101 children (median age 22 months) was analyzed. The etiological yield was 82.1% with genetic causes being the most common (61.4%) followed by perinatal acquired (20.4%), CNS malformations (12%), external prenatal (3.6%), and postnatal acquired (2.4%). Mild delay was seen in 11.7%, moderate in 21.7%, severe in 30.6% and profound in 35.6%. Conclusion: It is possible to ascertain the diagnosis in most of the cases of intellectual disability using a judicious and sequential battery of tests.

Short Syndrome-An Expanding Phenotype.

The phenotypic description of SHORT syndrome (OMIM- 269880) is expanding since its initial description in 1975. There have been 26 case reports till date but the genetic locus of this syndrome is elusive. Involvement of PITX2 gene initially envisaged is probably is not the only gene involved but has an important role to play in ocular development. Our case did not demonstrate mutation in PITX2 gene. Here, we report a case of SHORT syndrome with two new unreported features – deviated nasal septum and cryptorchidism and stress on lipodystrophy, a cardinal feature but not a part of the pneumonic SHORT.