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1.
Malays Orthop J ; 17(1): 90-97, 2023 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-37064632

RESUMO

Introduction: Proximal tibial plateau fractures are one of the major problems in orthopaedic surgery and are associated with high complication rates. Intra-articular proximal tibia plateau fractures represent approximately 1% of fractures in adults. Various modalities of proximal tibial plateau fracture management have been considered, ranging from simple external fixators in impending compartment syndrome to periarticular proximal tibia plates and inter-locking nails with poller screws. Purpose of this study is to determine clinical outcomes of proximal tibial plateau fractures treated with plate. Materials and methods: We did this study of proximal tibial plateau fracture according to Schatzker's classification treated with proximal tibial periarticular plates in 53 patients prospectively admitted at the author's institute from June 2018 to May 2020 with follow-up period of 6 months. Results: In our study, the average knee score was 89.30 (ranging from 79 to 93) and functional knee score was 97.92 (ranging from 75 to 100). Fifty-one (51) patients (96.23%) showed excellent results and 2 patients (3.77%) showed good results according to Knee Society Score, which suggest that internal fixation of proximal tibia plateau fracture with plating provides better results. Out of 53 patients, 9 patients had post-operative complications. Average radiological union was seen at 14 weeks. Conclusion: Locking compression plate in proximal tibia plateau fractures act as a good biological fixation provide stable fixation, articular reduction and limb alignment even in difficult fracture situations. Fixation of proximal tibia plateau fractures with plate gives excellent to good knee society score, with satisfactory functional and radiological outcome.

2.
Eye (Lond) ; 37(5): 1026-1032, 2023 04.
Artigo em Inglês | MEDLINE | ID: mdl-35780188

RESUMO

BACKGROUND: Idiopathic scleroma (previously coined solitary idiopathic choroiditis or focal scleral nodule) is an innocuous lesion affecting the sclera with intraocular manifestations. It is often the basis of many misdiagnoses such as amelanotic choroidal melanoma, osteoma or metastatic lesions. Patients are often asymptomatic and the course is benign. With increasing use of community based imaging, more of such cases are being identified. This paper is a retrospective case series investigating the multi-modal imaging findings of idiopathic scleroma. METHODS: A retrospective analysis of prospectively collected data were analysed. Over the course of January 2008-January 2022, 44 patients diagnosed with idiopathic scleroma and imaged with wide-field colour fundus photography, fundus autofluorescence, ocular coherence tomography (OCT) and B-scan ultrasonography. Due to a poor image, only 43 images were included for OCT review. We also reviewed our patient's demographics, symptoms and baseline ophthalmic characteristics upon presentation. RESULTS: The mean age was 52 years (range 32-79) and there was no predilection towards gender. All lesions were post equatorial with the most common location being inferotemporal (n = 16, 36%); 32 lesions (73%) were yellow on fundus photography. 82% (n = 36/44) of lesions exhibited hyperautoflourescence and 43 lesions (98%) showed hyperechogenicity on B-scan ultrasonography. 100% of lesions originated from the sclera with no lesions showing active inflammation. 20 (47%) lesions had associated blood vessels overlying them on OCT. DISCUSSION: Idiopathic scleroma is a yellow, hyperautofluorescent, hyperechogeneic scleral lesion that has no signs of active inflammation. These characteristics help define them from other more sinister cause of amelanotic fundal lesions.


Assuntos
Doenças da Esclera , Tomografia de Coerência Óptica , Corioidite/diagnóstico por imagem , Doenças da Esclera/diagnóstico por imagem , Humanos , Angiofluoresceinografia , Tomografia de Coerência Óptica/métodos , Estudos Retrospectivos , Inflamação , Masculino , Feminino , Adulto , Pessoa de Meia-Idade , Idoso , Imagem Óptica
3.
J Laryngol Otol ; 137(5): 577-581, 2023 May.
Artigo em Inglês | MEDLINE | ID: mdl-36169118

RESUMO

OBJECTIVE: Early exposure and mentorship in surgical specialties like otolaryngology - head and neck surgery are critical for medical students. This paper presents initiatives implemented at our institution to engage early-career medical students with the field. METHODS: A hands-on laryngoscope workshop was organised, and a centralised online platform was created for research and mentorship opportunities using a collaborative project management tool. Both measures were advertised via e-mail to student interest groups and campus diversity groups. At the end of the workshop, participating students completed an online distributed survey. RESULTS: Students' perception of their knowledge of airway anatomy and related clinical scenarios significantly improved after the laryngoscopy workshop (p = 0.001 and p = 0.002, respectively). All attendees indicated that the workshop increased their comfort level with procedures and that they would recommend the workshop to colleagues. Nearly half of participants reported becoming 'very interested' in exploring otolaryngology - head and neck surgery through future elective courses. CONCLUSION: Implementation of such initiatives at other institutions can generate medical student interest and may improve diversity in otolaryngology - head and neck surgery.


Assuntos
Educação de Graduação em Medicina , Otolaringologia , Estudantes de Medicina , Humanos , Otolaringologia/educação , Escolha da Profissão
4.
QJM ; 115(10): 661-664, 2022 Oct 25.
Artigo em Inglês | MEDLINE | ID: mdl-35143660

RESUMO

BACKGROUND: Here we detail our experience of managing patients found to have a neuroendocrine neoplasm (NEN) whilst on immunosuppression for a transplanted organ. AIM: We aimed to quantify the behaviour of NENs under solid-organ transplant-related immunosuppression. DESIGN: This was an observational, retrospective case series. METHODS: Ten patients were identified from a prospectively kept database. Three were excluded. RESULTS: Four patients received a liver, two a kidney, and one a heart transplant. All but one received calcineurin-based immunosuppression. NENs were found in five patients post-transplant: one had surgery for transverse colonic neuroendocrine carcinoma NEC (pT4N1M0, Ki67 60%), was cancer-free after four years; one had cold biopsy of duodenal NEN (pT1N0M0, Ki67 2%), cancer-free at four months; one 7 mm pancreatic NEN (pT1N0M0), untreated and stable for seven years; one small-bowel NEN with mesenteric metastasis (pTxNxM1), alive four years after diagnosis; and one untreated small-bowel NEN with mesenteric metastasis, stable at 1 year after liver transplantation. Two NENs were discovered pre-transplant, one pancreatic NEN (pT1N0M0, Ki67 5%), remains untreated and stable at three years. One gastric NEN (type 3, pT1bN0M0, Ki67 2%) remains stable without treatment for two years. CONCLUSIONS: NENs demonstrate indolent behaviour in the presence of transplant-related immunosuppression.


Assuntos
Tumores Neuroendócrinos , Humanos , Tumores Neuroendócrinos/complicações , Tumores Neuroendócrinos/cirurgia , Tumores Neuroendócrinos/patologia , Antígeno Ki-67 , Estudos Retrospectivos , Calcineurina , Terapia de Imunossupressão
5.
J Laryngol Otol ; 136(3): 261-264, 2022 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-35000629

RESUMO

BACKGROUND: The coronavirus disease 2019 pandemic created challenges in surgical education that expedited the development of virtual learning. Virtual rotations have been one such solution. However, they require co-ordination and technological equipment to create a meaningful, interactive experience for students. METHODS: Various otolaryngology surgical procedures were live-streamed during a two-week virtual rotation for medical students. A mobile audiovisual cart comprising a computer mounted with a webcam and microphone/speaker were utilised to live-stream from four sources: video-assisted telescope operating monitor ('VITOM') exoscope, microscope, endoscope and room camera. A dedicated faculty member, who was not the operating surgeon, was present to facilitate students' understanding of the procedure. CONCLUSION: A wide breadth of otolaryngology surgical procedures were live-streamed via a mobile audiovisual computer, including views of the room, endoscopic views, microscopic views and open views via an exoscope (video-assisted telescope operating monitor). This virtual rotation set-up, along with the dedicated faculty facilitator, reduced the burden on the operating surgeon and enhanced students' learning experience.


Assuntos
Educação a Distância , Otolaringologia/educação , Procedimentos Cirúrgicos Otorrinolaringológicos/educação , Webcasts como Assunto , Humanos
6.
Musculoskelet Surg ; 106(3): 325-335, 2022 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-33870477

RESUMO

BACKGROUND: Little literature exists regarding aggressive treatment of the extrusion in the early stage of the disease and the outcome at skeletal maturity. The purpose of the study was to evaluate the outcome of the disease with onset younger than 7 years, treated in the early stage of the disease, with aggressive management of significant extrusion (immediate containment with fixed abduction brace in children less than 5 years and varus derotation osteotomy in older children), and reached skeletal maturity. METHODS: All children with the age of onset younger than 7 years of disease during active Perthes disease were prospectively followed. Children with early stages of the disease (modified Elizabethtown classification) and reached skeletal maturity were included (68 children). The extrusion of the femur head was calculated by Reimer's migration index on both sides. A migration difference 12 % or above was considered as "significant extrusion". Children without significant extrusion were treated non-operatively; children with significant extrusion were treated with varus derotation osteotomy. The final radiological outcome was assessed by the Stulberg classification and sphericity deviation score (SDS). The independent "t" test and Chi-square test were done to compare the difference between the two groups. RESULTS: The mean age at the onset and the final follow-up was 5.7 years and 15.3 years. The frequency of significant extrusion was 57%. At the final follow-up, an excellent clinical outcome and radiological outcomes (in 88% hips) were noted. There was no significant difference in the Stulberg groups and SDS (sphericity deviation score) in both groups. CONCLUSION: The outcome of the children who had the age of onset of the disease less than 7 years was good with early and aggressive management of the extrusion. The reversal of extrusion is associated with a similar result of non-operative children in this age group. LEVEL OF EVIDENCE: III.


Assuntos
Doença de Legg-Calve-Perthes , Idade de Início , Criança , Cabeça do Fêmur/diagnóstico por imagem , Cabeça do Fêmur/cirurgia , Seguimentos , Articulação do Quadril/cirurgia , Humanos , Doença de Legg-Calve-Perthes/diagnóstico por imagem , Doença de Legg-Calve-Perthes/cirurgia , Resultado do Tratamento
7.
J Postgrad Med ; 68(3): 176-178, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-34708699

RESUMO

Unilateral acquired diaphragmatic paresis is a known complication of thoracic surgeries. Direct mechanical injury to the phrenic nerve during surgery results in this complication. However its occurrence post-percutaneous nephrolithotomy (PCNL) has not been described. We report a 43-year-old man who underwent prone PCNL for endourological management of left complete staghorn calculus. Access via the 10th left intercostal space, under fluoroscopy, was carried out to remove the calculus. Post-operative, the routine chest radiograph revealed left hemidiaphragmatic blunting. Computerized tomography of the chest confirmed left hemidiaphragmatic elevation, suggesting unilateral diaphragmatic paresis. He did not have any respiratory symptoms, was managed conservatively with chest physiotherapy and incentive spirometry and responded extremely well. The absence of reported cases of diaphragmatic paresis post PCNL lends to a dearth in knowledge regarding recognition and management. This case report aims to acquaint urologists with this rare complication associated with supracostal PCNL and provide a rational management plan.


Assuntos
Doenças do Sistema Digestório , Cálculos Renais , Nefrolitotomia Percutânea , Nefrostomia Percutânea , Adulto , Fluoroscopia , Humanos , Masculino , Paresia
8.
Sci Rep ; 11(1): 17947, 2021 09 09.
Artigo em Inglês | MEDLINE | ID: mdl-34504148

RESUMO

Neuroendocrine neoplasms are known to have heterogeneous biological behavior. G3 neuroendocrine tumours (NET G3) are characterized by well-differentiated morphology and Ki67 > 20%. The prognosis of this disease is understood to be intermediate between NET G2 and neuroendocrine carcinoma (NEC). Clinical management of NET G3 is challenging due to limited data to inform treatment strategies. We describe clinical characteristics, treatment, and outcomes in a large single centre cohort of patients with gastroenteropancreatic NET G3. Data was reviewed from 26 cases managed at Queen Elizabeth Hospital, Birmingham, UK, from 2012 to 2019. Most commonly the site of the primary tumour was unknown and majority of cases with identifiable primaries originated in the GI tract. Majority of cases demonstrated somatostatin receptor avidity. Median Ki67 was 30%, and most cases had stage IV disease at diagnosis. Treatment options included surgery, somatostatin analogs (SSA), and chemotherapy with either platinum-based or temozolomide-based regimens. Estimated progression free survival was 4 months following initiation of SSA and 3 months following initiation of chemotherapy. Disease control was observed following treatment in 5/11 patients treated with chemotherapy. Estimated median survival was 19 months; estimated 1 year survival was 60% and estimated 2 year survival was 13%. NET G3 is a heterogeneous group of tumours and patients which commonly have advanced disease at presentation. Prognosis is typically poor, though select cases may respond to treatment with SSA and/or chemotherapy. Further study is needed to compare efficacy of different treatment strategies for this disease.


Assuntos
Neoplasias Intestinais/metabolismo , Neoplasias Intestinais/patologia , Antígeno Ki-67/metabolismo , Tumores Neuroendócrinos/metabolismo , Tumores Neuroendócrinos/patologia , Neoplasias Pancreáticas/metabolismo , Neoplasias Pancreáticas/patologia , Neoplasias Gástricas/metabolismo , Neoplasias Gástricas/patologia , Adulto , Idoso , Idoso de 80 Anos ou mais , Carcinoma Neuroendócrino/tratamento farmacológico , Carcinoma Neuroendócrino/metabolismo , Carcinoma Neuroendócrino/mortalidade , Carcinoma Neuroendócrino/patologia , Feminino , Seguimentos , Humanos , Neoplasias Intestinais/tratamento farmacológico , Neoplasias Intestinais/mortalidade , Estimativa de Kaplan-Meier , Masculino , Pessoa de Meia-Idade , Estadiamento de Neoplasias , Tumores Neuroendócrinos/tratamento farmacológico , Tumores Neuroendócrinos/mortalidade , Neoplasias Pancreáticas/tratamento farmacológico , Neoplasias Pancreáticas/mortalidade , Prognóstico , Intervalo Livre de Progressão , Estudos Retrospectivos , Neoplasias Gástricas/tratamento farmacológico , Neoplasias Gástricas/mortalidade , Adulto Jovem
9.
Med Hypotheses ; 144: 110133, 2020 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-32758904

RESUMO

COVID-19 is an overwhelming pandemic which has shattered the whole world. Lung injury being the main clinical manifestation, it is likely to cause COPD (chronic obstructive pulmonary disease) and ARDS (acute respiratory distress syndrome). The possible cause behind this might be redox imbalance due to viral infection. Elevation in Glutathione (GSH) levels by administration of its promolecule might be effective. N-acetylcysteine is one such drug with potency to scavenge Reactive Oxygen Species, least side effects, and an effective precursor of glutathione. Consequently we hypothesize that N-acetylcysteine along with the conventional treatment may be treated as a potential therapeutic solution in cases of COVID-19 patients.


Assuntos
Acetilcisteína/uso terapêutico , Tratamento Farmacológico da COVID-19 , Glutationa/metabolismo , Acetilcisteína/química , Antioxidantes/uso terapêutico , Humanos , Oxirredução , Estresse Oxidativo , Doença Pulmonar Obstrutiva Crônica/virologia , Espécies Reativas de Oxigênio/metabolismo , Síndrome do Desconforto Respiratório/tratamento farmacológico , Síndrome do Desconforto Respiratório/virologia
10.
J Postgrad Med ; 64(2): 98-103, 2018.
Artigo em Inglês | MEDLINE | ID: mdl-29692401

RESUMO

We aimed to review the contributions by Indian researchers to the subspecialty of skeletal dysplasias (SDs). Literature search using specific keywords in PubMed was performed to retrieve all the published literature on SDs as on July 6, 2017. All published literature on SDs wherein at least one author was from an Indian institute was included. Publications were grouped into different categories based on the major emphasis of the research paper. Five hundred and forty publications in English language were retrieved and categorized into five different groups. The publications were categorized as reports based on: (i) phenotypes (n = 437), (ii) mutations (n = 51), (iii) novel genes (n = 9), (iv) therapeutic interventions (n = 31), and (v) reviews (n = 12). Most of the publications were single-patient case reports describing the clinical and radiological features of the patients affected with SDs (n = 352). We enlisted all the significant Indian contributions. We have also highlighted the reports in which Indians have contributed to discovery of new genes and phenotypes. This review highlights the substantial Indian contributions to SD research, which is poised to reach even greater heights given the size and structure of our population, technological advances, and expanding national and international collaborations.


Assuntos
Bibliometria , Pesquisa Biomédica , Osteocondrodisplasias , Humanos , Índia , Editoração
11.
Surg Neurol Int ; 9: 33, 2018.
Artigo em Inglês | MEDLINE | ID: mdl-29527391

RESUMO

BACKGROUND: Neurenteric cysts (NECs) are rare developmental malformations of the central nervous system (CNS) which originate as benign congenital lesions. They originate from developmental foregut precursors, and are presumed to be the result of abnormal partitioning of the embryonic notochord plate. Such NECs predominantly arise in the cervical region in patients around 6 years of age or in their twenties or thirties. Notably, NECs of the conus medullaris are exceedingly rare, especially in patients of advanced age. CASE DESCRIPTION: A 70-year-old male presented with bilateral upper thigh and leg pain of over 20 years duration. His pain worsened over the past 3 years, and he sought surgical management. Although his neurological exam was normal, the lumbar magnetic resonance imaging revealed an intradural, nonenhancing, thin-walled, cystic lesion at L1/conus medullaris. The lesion was successfully resected without any adverse sequelae. CONCLUSIONS: NECs are rare congenital legions that involve the spine. Here, an L1 intradural extramedullay neuroenteric cyst of the conus medullaris was resected without complications.

12.
Clin Genet ; 94(1): 159-164, 2018 07.
Artigo em Inglês | MEDLINE | ID: mdl-29566257

RESUMO

The location and/or type of variants in FLNB result in a spectrum of osteochondrodysplasias ranging from mild forms, like spondylocarpotarsal synostosis syndrome and Larsen syndrome, to severe perinatal lethal forms, such as atelosteogenesis I and III and Boomerang dysplasia. Spondylocarpotarsal synostosis syndrome is characterized by disproportionate short stature, vertebral anomalies and fusion of carpal and tarsal bones. Biallelic loss-of-function variants in FLNB are known to cause spondylocarpotarsal synostosis syndrome and 9 families and 9 pathogenic variants have been reported so far. We report clinical features of 10 additional patients from 7 families with spondylocarpotarsal synostosis syndrome due to 7 novel deleterious variants in FLNB, thus expanding the clinical and molecular repertoire of spondylocarpotarsal synostosis syndrome. Our report validates key clinical (fused thoracic vertebrae and carpal and tarsal coalition) and molecular (truncating variants in FLNB) characteristics of this condition.


Assuntos
Anormalidades Múltiplas/diagnóstico , Anormalidades Múltiplas/genética , Alelos , Filaminas/genética , Variação Genética , Vértebras Lombares/anormalidades , Doenças Musculoesqueléticas/diagnóstico , Doenças Musculoesqueléticas/genética , Escoliose/congênito , Sinostose/diagnóstico , Sinostose/genética , Vértebras Torácicas/anormalidades , Pré-Escolar , Feminino , Genótipo , Humanos , Lactente , Masculino , Linhagem , Fenótipo , Radiografia , Escoliose/diagnóstico , Escoliose/genética , Síndrome
13.
Am J Otolaryngol ; 39(1): 34-36, 2018.
Artigo em Inglês | MEDLINE | ID: mdl-28969869

RESUMO

PURPOSE: To report a series of patients with extra-ocular movement restriction and diplopia after orbital fracture repair, and determine the effect of timing of repair and the type of implant used. METHODS: A chart review was conducted identifying all patients >18years of age at our institution between June 2005 and June 2008 who underwent orbital fracture repair, and presented with clinically significant diplopia and extra-ocular movement restriction persisting longer than one month after repair. Data collected included timing of repair, implant used within the orbit, and need for revision. RESULTS: Ten patients were identified with a mean time to primary orbital fracture repair at 9days (range 1-48). Seven patients underwent revision of their orbital fracture repair with removal of the previously placed implant and replacement with non-porous 0.4mm Supramid Foil, whereas one patient underwent lateral and inferior rectus recessions without revision of primary fracture repair. Titanium mesh was the intra-orbital implant found in all patients requiring revision of orbital fracture repair. All revisions resulted in resolution of clinically significant diplopia. CONCLUSIONS: Clinically significant diplopia and extra-ocular movement restriction is not an uncommon complication after orbital fracture repair. In our series, there was a strong association between these complications and the use of porous titanium mesh implants. Revision of fractures significantly improved diplopia in all but one patient. This suggests that meticulous fracture repair and the use of non-porous implants primarily or secondarily may preclude the need for strabismus surgery after orbital trauma.


Assuntos
Diplopia/etiologia , Fixação de Fratura/efeitos adversos , Transtornos da Motilidade Ocular/etiologia , Fraturas Orbitárias/cirurgia , Telas Cirúrgicas/efeitos adversos , Adulto , Estudos de Coortes , Diplopia/fisiopatologia , Diplopia/cirurgia , Feminino , Seguimentos , Fixação de Fratura/métodos , Humanos , Masculino , Pessoa de Meia-Idade , Transtornos da Motilidade Ocular/fisiopatologia , Transtornos da Motilidade Ocular/cirurgia , Fraturas Orbitárias/complicações , Fraturas Orbitárias/diagnóstico , Complicações Pós-Operatórias/epidemiologia , Complicações Pós-Operatórias/fisiopatologia , Próteses e Implantes , Recuperação de Função Fisiológica , Reoperação/métodos , Estudos Retrospectivos , Titânio , Resultado do Tratamento , Adulto Jovem
14.
Nat Commun ; 8(1): 1943, 2017 12 05.
Artigo em Inglês | MEDLINE | ID: mdl-29203772

RESUMO

Mechanisms driving acute food allergic reactions have not been fully characterized. We profile the dynamic transcriptome of acute peanut allergic reactions using serial peripheral blood samples obtained from 19 children before, during, and after randomized, double-blind, placebo-controlled oral challenges to peanut. We identify genes with changes in expression triggered by peanut, but not placebo, during acute peanut allergic reactions. Network analysis reveals that these genes comprise coexpression networks for acute-phase response and pro-inflammatory processes. Key driver analysis identifies six genes (LTB4R, PADI4, IL1R2, PPP1R3D, KLHL2, and ECHDC3) predicted to causally modulate the state of coregulated networks in response to peanut. Leukocyte deconvolution analysis identifies changes in neutrophil, naive CD4+ T cell, and macrophage populations during peanut challenge. Analyses in 21 additional peanut allergic subjects replicate major findings. These results highlight key genes, biological processes, and cell types that can be targeted for mechanistic study and therapeutic targeting of peanut allergy.


Assuntos
Reação de Fase Aguda/genética , Hipersensibilidade a Amendoim/genética , RNA Mensageiro/metabolismo , Reação de Fase Aguda/imunologia , Adolescente , Linfócitos T CD4-Positivos/imunologia , Criança , Método Duplo-Cego , Enoil-CoA Hidratase/genética , Feminino , Perfilação da Expressão Gênica , Redes Reguladoras de Genes , Humanos , Inflamação/genética , Inflamação/imunologia , Macrófagos/imunologia , Masculino , Proteínas dos Microfilamentos/genética , Proteínas do Tecido Nervoso/genética , Neutrófilos/imunologia , Hipersensibilidade a Amendoim/imunologia , Proteína Fosfatase 1/genética , Proteína-Arginina Desiminase do Tipo 4 , Desiminases de Arginina em Proteínas/genética , Distribuição Aleatória , Receptores Tipo II de Interleucina-1/genética , Receptores do Leucotrieno B4/genética , Reprodutibilidade dos Testes
15.
J Assoc Physicians India ; 65(3): 52-57, 2017 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-28462544

RESUMO

INTRODUCTION: C.E.R.A. reported effective correction of anaemia and was well tolerated in International studies on CKD patients not on dialysis. OBJECTIVE: The study aimed to describe the management of renal anaemia in CKD patients not on dialysis with C.E.R.A. in routine clinical practice in India. METHODS: This was a prospective, single-arm, open-label, multi-centre, non-interventional, Phase IV study which followed 108 CKD Stage III-IV patients, not on dialysis with Hb < 10 g/dL for correction of anaemia with C.E.R.A. RESULTS: Of the 108 patients with Hb < 10 g/dL at baseline, 83 (90.2%) patients achieved target Hb of 10-12 g/dL and the time taken to achieve correction of anaemia was 9.6 weeks ± 6.13 weeks in the Intent-to-treat population. Haemoglobin concentration increased from 8.59 ± 0.808 g/dL pre-therapy to 10.91 ± 0.634 g/dL post-therapy. The change in mean ± SD Hb value was 2.32 ± 0.174 g/dL. Maintenance of Hb levels within the target range of Hb 10 - 12 g/dL was observed in 78.2% of ITT and 80.8% of the PP population for mean duration of 16.69 weeks. Four patients (3.7%) experienced 5 AEs and 2 patients (1.9%) experienced 3 SAEs in the safety population. As per the treating physician none of the AEs or SAEs was considered related to study drug. There were no deaths reported. CONCLUSIONS: This study demonstrated successful correction of anaemia in Indian patients with C.E.R.A. treatment as well as maintenance of Hb levels within the target range. C.E.R.A. was well tolerated with no new safety concerns specific to the Indian population. The less frequent up to monthly dosing schedule of C.E.R.A. may offer clinicians and patients a simplified regimen of anaemia management as compared to traditional frequently administered (thrice weekly to once weekly) ESAs.


Assuntos
Anemia/tratamento farmacológico , Eritropoetina/uso terapêutico , Hematínicos/uso terapêutico , Hemoglobinas/metabolismo , Polietilenoglicóis/uso terapêutico , Insuficiência Renal Crônica/complicações , Adulto , Idoso , Anemia/sangue , Anemia/etiologia , Eritropoetina/efeitos adversos , Feminino , Hematínicos/efeitos adversos , Humanos , Masculino , Pessoa de Meia-Idade , Polietilenoglicóis/efeitos adversos , Estudos Prospectivos
16.
Clin Genet ; 92(3): 323-326, 2017 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-28276056

RESUMO

Steel syndrome is a rare disorder of the skeleton characterized by facial dysmorphism, short stature, carpal coalition, dislocated radial heads, bilateral hip dislocation and vertical talus. Homozygous variants in COL27A1 were reported in an extending family from Puerto Rico. Here, we report a 5-year-old girl from a non-consanguineous family with facial dysmorphism, short stature, carpal coalition, dislocation of radial heads, bilateral hip dislocation, scoliosis and vertical talus. Exome sequencing identified 2 novel compound heterozygous variants c.521_528del (p.(Cys174Serfs*34)) and c.2119C>T (p.(Arg707*)) in COL27A1 in this child and the parents were heterozygous carriers. We hence report the second molecularly proven case of Steel syndrome and the first case to be reported among non-Puerto Rican population. Our report further validates the role of COL27A1 mutations in causation of Steel syndrome.


Assuntos
Anormalidades Múltiplas/diagnóstico , Anormalidades Múltiplas/genética , Alelos , Colágenos Fibrilares/genética , Mutação , Criança , Pré-Escolar , Feminino , Estudos de Associação Genética , Genótipo , Humanos , Masculino , Linhagem , Fenótipo , Síndrome , Sequenciamento do Exoma
17.
Indian J Nephrol ; 27(2): 157-160, 2017.
Artigo em Inglês | MEDLINE | ID: mdl-28356674

RESUMO

Fibrillary glomerulonephritis (FGN) is a rare primary glomerular disease that commonly presents clinically with hypertension, proteinuria, microscopic hematuria, and varying degree of renal insufficiency. Histologically, FGN can present with different patterns of glomerular injury, more commonly mesangioproliferative, membranoproliferative, and membranous nephropathy. While crescent formation has been described in some kidney biopsy series of FGN, crescentic glomerulonephritis pattern of glomerular injury has been rarely described. Optimal therapy and outcomes in FGN presenting with crescentic GN is not currently known. We report an adult patient who presented with massive proteinuria and severe renal failure. The kidney biopsy revealed crescentic FGN (C-FGN). The patient remained dialysis dependent despite immunosuppressive therapy. We also briefly review FGN, and the few reported cases of C-FGN that presented as rapidly progressive or advanced renal failure in the literature.

18.
Cell Mol Biol (Noisy-le-grand) ; 62(5): 44-54, 2016 Apr 30.
Artigo em Inglês | MEDLINE | ID: mdl-27188869

RESUMO

Cutaneous wound healing is a complex type of biological event involving proliferation, differentiation, reprograming, trans/de-differentiation, recruitment, migration, and apoptosis of a number of cells (keratinocytes, fibroblasts, endothelial cells, nerve cells and stem cells) to regenerate a multi-layered tissue that is damaged by either internal or external factors. The exact regeneration mechanism of damaged skin is still unknown but the epithelial and other kinds of stem cells located in skin play crucial roles in the healing process. In this work, a co-culture model composed of adipose derived mesenchymal stem cells and keratinocytes was developed to understand the cellular differentiation behaviour in wound healing. Human mesenchymal stem cells were isolated from waste lipoaspirates. Keratinocytes were isolated from neonatal rats skin as well from human adult skin. Both types of cells were cultured and their culturing behaviour was observed microscopically under regular intervals of time. The identity of both cells was confirmed by flow cytometry and qRT-PCR. Cells were co-cultured under the proposed co-culturing model and the model was observed for 7, 14 and 21 days. The cellular behaviour was studied based on change in morphology, colonization, stratification, migration and expression of molecular markers. Expression of molecular markers was studied at transcriptional level and change in cellular morphology and migration capabilities was observed under the invert microscope regularly. Successfully isolated and characterized mesenchymal stem cells were found to express keratinocyte lineage markers i.e. K5, K10, K14, K18, K19 and Involucrin when co-cultured with keratinocytes after 14 and 21 days. Their expression was found to increase by increasing the time span of cell culturing. The keratinocyte colonies started to disappear after 10 days of culturing which might be due to stratification process initiated by possibly transdifferentiated stem cells. It can be concluded that mesenchymal stem cells can regenerate the damaged skin if transplanted to damaged area but for their successful differentiation and enhanced regeneration, they need a population of keratinocytes in situ which need further experiments for validation of co-culture model and its potential for being used in clinics.


Assuntos
Tecido Adiposo/citologia , Biomarcadores/metabolismo , Linhagem da Célula , Técnicas de Cocultura/métodos , Queratinócitos/citologia , Células-Tronco Mesenquimais/citologia , Adipócitos/citologia , Animais , Animais Recém-Nascidos , Diferenciação Celular , Proliferação de Células , Separação Celular , Células Cultivadas , Citometria de Fluxo , Humanos , Transplante de Células-Tronco Mesenquimais , Osteoblastos/citologia , Ratos , Cicatrização
19.
Indian J Cancer ; 53(2): 309-312, 2016.
Artigo em Inglês | MEDLINE | ID: mdl-28071635

RESUMO

CONTEXT: To identify prognostic factors in carcinoma penis with its impact on survival. AIMS: To find out the relation of various prognostic factors of carcinoma penis with the various outcomes. SETTINGS AND DESIGN: Retrospective cohort study. SUBJECTS AND METHODS: Each patient diagnosed as having carcinoma of penis by incision biopsy and operated from January 2004 to May 2009 at the institute was included in the study (n = 117). Data were collected and analyzed. STATISTICAL ANALYSIS USED: The Chi-square (χ2) test was used to test for the significance of association between the independent (predictor) and dependent (outcome) variables. Multivariate logistic regression analysis was used to determine predictor variables that predicted the outcome. Five year disease-free survival (DFS) and overall survival (OS) were calculated using the Kaplan-Meier method. RESULTS: Of the total 117 patients studied, 30 patients died within 5 years (median = 25 months). Recurrences (local or systemic) were seen in 23 patients (median = 14 months). Five-year DFS was 80.34% and OS was 72.22%. Kaplan-Meier analysis showed that well to moderately differentiated grade, lymph node negative disease and low stage have higher survivals than poorly differentiated grade, lymph node positive disease and higher stage, respectively. Multiple logistic regression analysis revealed that inguinal lymph node positivity and grade were significantly associated with local or systemic recurrence. CONCLUSIONS: Penile cancer patients with advanced disease had poor survival. Tumor grade and inguinal lymph node metastasis are factors affecting DFS. Lymphadenectomy remains an integral part of the management of patients with penile cancer.


Assuntos
Neoplasias Penianas , Adulto , Idoso , Idoso de 80 Anos ou mais , Humanos , Masculino , Pessoa de Meia-Idade , Neoplasias Penianas/mortalidade , Neoplasias Penianas/patologia , Prognóstico , Estudos Retrospectivos , Taxa de Sobrevida , Centros de Atenção Terciária , Adulto Jovem
20.
J Laryngol Otol ; 129(12): 1234-7, 2015 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-26456041

RESUMO

BACKGROUND: Transoral endoscopic ENT surgical procedures are a mainstay of treatment for a variety of conditions and are often preferable to open surgery where possible. Cases of micrognathia, prominent incisor teeth or trismus may create difficulties in gaining sufficient access to undertake such procedures. Extraction of the anterior maxillary teeth can help overcome these problems in appropriate cases, with subsequent prosthetic tooth replacement supported by dental implants. To date, this approach has not been reported in the literature. CASE REPORTS: This paper reports on two cases which illustrate this approach; the first case involved pharyngeal pouch management where previous open surgery had failed, and the second case involved glottic carcinoma management where oral access was compromising resection. CONCLUSION: This technique is recommended to facilitate effective transoral surgical procedures as a low-morbidity alternative to either open surgery or non-surgical therapies.


Assuntos
Implantação Dentária/métodos , Endoscopia/métodos , Neoplasias Laríngeas/cirurgia , Otolaringologia/métodos , Doenças Faríngeas/cirurgia , Extração Dentária/métodos , Idoso , Terapia Combinada , Humanos , Neoplasias Laríngeas/diagnóstico , Masculino , Doenças Faríngeas/diagnóstico , Medição de Risco , Cirurgia Bucal/métodos , Resultado do Tratamento
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