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1.
Osteoporos Int ; 30(5): 1051-1057, 2019 May.
Artigo em Inglês | MEDLINE | ID: mdl-30706095

RESUMO

Tc99m-sestamibi dual-time imaging is a standard tool for localization of adenomas/hyperplasia in hyperparathyroidism. We investigated the degree and causes of localization failure among different types of hyperparathyroidism. Pre-operative parathyroid hormone levels and size of the gland were major determinants of Tc99m-sestamibi positivity; 123I scan may be helpful in localization failures. INTRODUCTION: Tc99m-sestamibi dual-time imaging is a standard tool for localization of adenomas/hyperplasia in hyperparathyroidism. However, parathyroid adenomas/hyperplasia has been reported to washout as fast as normal thyroid tissue ("rapid washout") which may lead to diagnostic failure. We aimed to evaluate the determinants of rapid washout and to determine the role of subtraction imaging for detection of parathyroid adenomas/hyperplasia with rapid washout. METHODS: Retrospective analysis of patients with hyperparathyroidism who have undergone Tc99m-sestamibi dual-time imaging and parathyroid surgery. Rapid washout was correlated to the type of hyperparathyroidism in surgically confirmed cases. Biochemical and pathological data were reviewed. RESULTS: A total of 135 hyperparathyroidism patients met the inclusion criteria. Ninety-six (72%), 29 (21%), and 10 (7%) had primary, secondary, and tertiary hyperparathyroidisms, respectively. Rapid washout was identified in 28/87 glands (32%), 14/53 glands (26%), and 1/16 glands (6%) with primary, secondary, and tertiary hyperparathyroidisms, respectively. Glands that were positive on late-phase Tc99m-sestamibi scans were significantly large being 1.7 (IQR 1.4-2.3) vs. 1.45 (IQR 1-2) cm (p = 0.003). High parathyroid hormone levels (PTH) were associated with early-phase Tc99m-sestamibi positivity in both primary (p = 0.01) and secondary hyperparathyroidism (p = 0.03) but not with last phase (p = 0.11, p = 0.37, respectively). Correlative imaging with subtraction scintigraphy was positive in 14/16 (87.5%) parathyroid adenomas. CONCLUSION: Pre-operative PTH levels and size of the gland were major determinants of Tc99m-sestamibi positivity on early-phase Tc99m-sestamibi scans, whereas size is an independent predictor of late-phase Tc99m-sestamibi positivity. Subtraction scintigraphy might be a useful tool in suspected cases of rapid washout adenomas/hyperplasia.


Assuntos
Adenoma/diagnóstico por imagem , Hiperparatireoidismo Primário/diagnóstico por imagem , Neoplasias das Paratireoides/diagnóstico por imagem , Adenoma/complicações , Adulto , Idoso , Feminino , Humanos , Hiperparatireoidismo Primário/etiologia , Radioisótopos do Iodo , Masculino , Pessoa de Meia-Idade , Hormônio Paratireóideo/sangue , Neoplasias das Paratireoides/complicações , Cintilografia/métodos , Compostos Radiofarmacêuticos , Estudos Retrospectivos , Técnica de Subtração , Tecnécio Tc 99m Sestamibi
2.
Soft Matter ; 12(8): 2243-6, 2016 Feb 28.
Artigo em Inglês | MEDLINE | ID: mdl-26853859

RESUMO

We report a new class of ß-peptide based hydrogel for neural tissue engineering. Our ß-peptide forms a network of nanofibres in aqueous solution, resulting in a stable hydrogel at physiological conditions. The hydrogel shows excellent compatibility with neural cells and provides a suitable environment for cells to adhere and proliferate.


Assuntos
Proliferação de Células , Hidrogel de Polietilenoglicol-Dimetacrilato/química , Hidrogéis/química , Neurônios/citologia , Peptídeos/química , Engenharia Tecidual/instrumentação , Alicerces Teciduais/química , Animais , Adesão Celular , Linhagem Celular , Sobrevivência Celular , Camundongos , Reologia
4.
Clin Exp Dermatol ; 39(3): 304-6, 2014 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-24635065

RESUMO

Sequestrated meningocoele is an uncommon developmental anomaly in which meningothelial elements are found in the skin or subcutaneous tissue without underlying bony defect. By contrast, naevus sebaceous of Jadassohn (NSJ) is a circumscribed hamartomatous lesion occurring in about 0.3% of newborns. We report a child with a histologically confirmed sequestrated meningocoele within an NSJ on his scalp vertex. Such an occurrence has not been reported previously.


Assuntos
Meningocele/patologia , Nevo Sebáceo de Jadassohn/patologia , Dermatoses do Couro Cabeludo/patologia , Humanos , Lactente , Masculino
5.
J Hosp Infect ; 152: 66-72, 2024 Aug 10.
Artigo em Inglês | MEDLINE | ID: mdl-39134223

RESUMO

BACKGROUND: The need to monitor manual cleaning of high-risk endoscopes is recommended or more so required by the current endoscope reprocessing guidelines. The objective of this study was to establish the optimal extraction volume for colonoscopes and bronchoscopes and demonstrate the extraction efficacy for the ChannelCheck™ rapid test. METHODS: The test soil utilized as a positive control was ATS2015 containing 20% defibrinated bovine blood. The extraction from the instrument channel of a colonoscope and bronchoscope was evaluated to establish the optimal extraction volume and the extraction efficacy for protein, carbohydrate and haemoglobin. RESULTS: Of the extraction volumes tested, 10 mL was optimal for both colonoscopes and bronchoscopes. The extraction efficacy was 91% for carbohydrate, 83.7% for haemoglobin and 82.4% for protein. CONCLUSIONS: The limit of detection for these analytes by the ChannelCheck rapid test meet or exceed the established levels that correlate with adequate manual cleaning of flexible endoscopes.

6.
Plast Reconstr Surg ; 2024 Mar 29.
Artigo em Inglês | MEDLINE | ID: mdl-38548710

RESUMO

INTRODUCTION: Numerous complications are reported following interventions for Dupuytren's contracture; however, their incidence, management, and outcomes remain poorly reported. The aims of this review were to report the proportions of complications, compare likelihood of complications between interventions, and evaluate reporting of complications, including assessment, grading, management, and subsequent reporting of their impact on patient outcomes. METHODS: Extracted data included patient demographics, intervention details, complications, their management, and final outcomes. Analysis of descriptive data enabled review of complications reporting. Meta-analysis(MA) of non-comparative datasets enabled estimation of proportions of patients experiencing complications. Network meta-analysis(NMA) of comparative studies estimated the relative occurrence of complications between interventions. Risk of bias analysis was performed. RESULTS: 26 studies, comprising 10,831 patients, were included. Interventions included collagenase injection, percutaneous needle fasciotomy(PNF), limited fasciectomy(LF), open fasciotomy(OF), and dermofasciectomy(DF). Overall quality and consistency of outcomes reporting was poor. MA enabled estimates of probabilities for three common complications(infection, nerve injury, complex regional pain syndrome(CRPS)) across all interventions; the reported rates for LF were 4.5% for infection, 3% for nerve injury, and 3.3% for CRPS. As the commonest intervention, LF was used as the reference intervention for comparison of the commonest complications via NMA, including haematoma [OF OR 0.450(0.277, 0.695); PNF OR 0.245(0.114, 0.457)], infection [PNF OR 0.2(0.0287, 0.690); DF OR 2.02(1.02, 3.74)], and neuropraxia [PNF OR 0.0926(0.00553, 0.737)]. We noted that the complication incidence was higher the more invasive the intervention. CONCLUSIONS: There was limited reporting of complication occurrence, management, and outcomes following interventions, contributing to a gap in information for informed patient consent. MA was possible for reporting of proportions for infection, nerve injury, and CRPS across interventions. NMA enabled direct comparison of the six commonest complications between interventions. These findings can guide intervention selection. Improving consistency and quality in complications reporting is essential to aid counselling of patients regarding the true rates and consequences of the risks of interventions. TYPE OF STUDY/LEVEL OF EVIDENCE: 2.

7.
Kathmandu Univ Med J (KUMJ) ; 11(42): 126-31, 2013.
Artigo em Inglês | MEDLINE | ID: mdl-24096219

RESUMO

BACKGROUND: Cervical epidural anaesthesia (CEA) using local anesthetics (LA) is a well established technique for the surgeries in the neck, chest and upper arms. Recently ropivacaine is introduced with better safety profile. OBJECTIVES: The aim was to observe the safety of Cervical epidural anaesthesia as an anaesthetic technique and to compare the efficacy of epidural 0.25% bupivacaine with 0.375% ropivacaine for radical mastectomies. METHODS: A double blind study was conducted on 40 ASA grade I / II females who received CEA with 10 ml of 0.25% of bupivacaine +25µg of fentanyl in group B (n=20) and 10 ml of 0.375% of ropivacaine +25µg of fentanyl in group R (n=20) epidurally. Assessment of the block, vital monitoring and complications noted. RESULTS: No significant differences observed in the onset of sensory block (5.05 min and 5.4 min in group B and R respectively, P>0.05).The mean motor blockade score, time to achieve complete blockade and time to grade I motor recovery was significantly longer in group B (2.3, 22.5 and 79.5 minutes respectively) as compared to group R (1.5, 18.3 and 66.3 minutes respectively, P<0.05). Respiratory distress developed in two patients of group B that required general anaesthesia (GA) with intubation. CONCLUSION: Use of 0.37% ropivacaine is safer than 0.25% bupivacaine for CEA for radical mastectomy. It provides good surgical anaesthesia with lesser degree of motor blockade and the respiratory effects.


Assuntos
Amidas/uso terapêutico , Anestesia Epidural/métodos , Anestésicos Locais/uso terapêutico , Bupivacaína/uso terapêutico , Mastectomia Radical/métodos , Pescoço , Idoso , Amidas/administração & dosagem , Amidas/efeitos adversos , Anestesia Epidural/efeitos adversos , Anestésicos Locais/administração & dosagem , Anestésicos Locais/efeitos adversos , Neoplasias da Mama/cirurgia , Bupivacaína/administração & dosagem , Bupivacaína/efeitos adversos , Método Duplo-Cego , Feminino , Humanos , Pessoa de Meia-Idade , Bloqueio Neuromuscular , Estudos Prospectivos , Ropivacaina , Fatores de Tempo
8.
Malays Orthop J ; 17(3): 26-32, 2023 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-38107363

RESUMO

Introduction: Forearm fractures are common in children. The remodelling capacity of growing long bones in children makes these potentially forgiving injuries, recovering with good outcomes despite minimal intervention. Clinicians rely on radiological characteristics that vary with age to guide treatment decisions and minimise adverse sequelae. The purpose of this review was to consolidate the evidence base of radiological indications for intervention in paediatric mid-shaft forearm fractures. Materials and methods: The preferred reporting items for systematic reviews and meta-analyses (PRISMA) guidelines were followed for this review. Citable research output reporting radiological criteria for mid-shaft forearm fractures in paediatric patients (age ≤16 years) was screened and analysed to ascertain acceptable radiological criteria for non-operative management. Results: A total of 2,059 papers were initially identified; 14 were selected following screening. Sagittal angulation >15°, coronal angulation >10°, and/or >50% (or >1cm) translation were the most common radiological indications for intervention in children aged 0 to 10 years. For children over 10 years of age, the most common radiological indication for intervention was sagittal angulation >10°, coronal angulation >10°, and/or >50% (or >1cm) translation. Conclusion: This study revealed a scarcity of high-quality evidence to guide management and significant variation in outcome reporting throughout the published literature. Since Noonan and Price's 1998 recommendations, there has been no significant evolution in the evidence-base guided threshold for intervention in paediatric mid-shaft forearm fractures. There remains a pressing need for a robust multicentre observational study using the patient-reported outcome measurement information system (PROMIS) to address this complex and controversial area of uncertainty in paediatric trauma management.

9.
Clin Exp Dermatol ; 37(5): 505-8, 2012 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-22439885

RESUMO

Cutaneous sarcomatoid carcinoma is a high-grade malignancy. We describe a clinical case of an aggressive sarcomatoid carcinoma in an 87-year-old woman, who presented to the outpatients department with a haemorrhagic nodule on the dorsum of her right hand. By the time of excision 3 weeks later, the nodule had enlarged to 100 × 90 × 65 mm in size. On histological examination, a poorly differentiated carcinoma was seen, with both carcinomatous and sarcomatous elements, in keeping with a sarcomatoid carcinoma. The tumour was positive for cytokeratin, epithelial, smooth-muscle actin, and vimentin stains. Two months later, the patient presented with a recurrent growth on the excised scar along with numerous large right axillary lymph nodes. A right axillary dissection along with excision of the growth confirmed tumour recurrence with metastasis to lymph nodes. Soon after, the patient developed cerebral metastasis, which proved fatal. This case thus highlights the aggressive potential of sarcomatoid carcinoma.


Assuntos
Carcinossarcoma/patologia , Mãos , Neoplasias Cutâneas/patologia , Idoso de 80 Anos ou mais , Carcinossarcoma/secundário , Evolução Fatal , Feminino , Humanos , Metástase Linfática
10.
Ann R Coll Surg Engl ; 2022 Nov 30.
Artigo em Inglês | MEDLINE | ID: mdl-36448937

RESUMO

INTRODUCTION: The optimal role of nerve conduction studies (NCS) in management of carpal tunnel syndrome (CTS) is unclear, with no standardised guidance. This study aimed to identify variation in practice in the initial diagnosis of patients with suspected CTS, alongside evaluating how NCS findings influence clinical decision making. METHODS: A national multicentre collaborative survey was conducted in 2021. All centres providing surgery for CTS were invited to participate, primarily via social media. All middle-senior grade orthopaedic/plastic surgeons and advanced care practitioners that regularly manage new referrals for suspected CTS were eligible to respond. Local representatives at each participating site submitted their responses to a central team who collated and analysed the results. RESULTS: A total of 137 healthcare professionals responded from 18 UK NHS Trusts. Of these 137, 124 (91%) reported not employing any validated clinical questionnaires in their routine practice, preferring to rely on clinical diagnosis and/or NCS if available, whereas 84 (61%) utilised NCS to aid diagnosis, with significant differences among professionals with differing experience (p < 0.01). The most common methods for determining the severity of CTS were history, examination and NCS. In symptomatic CTS with confirmatory NCS, over 50% of clinicians would choose surgical decompression as their first-line intervention. In cases of either negative NCS or atypical presentation, 37% and 51%, respectively, would consider conservative management (eg, splintage) or steroid injection first line. CONCLUSIONS: With growing waiting lists for NCS and surgery, national consensus guidelines should be developed to support decision making, while maximising efficient utilisation of increasingly constrained resources.

11.
Neuropediatrics ; 42(1): 32-4, 2011 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-21557147

RESUMO

Zellweger spectrum disorder, resulting from mutations in the peroxisome assembly mechanism, is genetically heterogeneous and phenotypically varied in disease characteristics and severity. In addition to manifesting gyration anomalies, affected individuals typically have white matter abnormalities ranging from hypomyelination in infancy to a more diffuse demyelinating leukoencephalopathy pattern in those surviving into childhood. Here we report a unique presentation in a 2/-year-boy with acute neurological deterioration and MRI demonstrating avid contrast enhancement suggesting inflammatory demyelination in the brainstem.


Assuntos
Tronco Encefálico/patologia , Meios de Contraste , Gadolínio , Síndrome de Zellweger/diagnóstico , Humanos , Lactente , Imageamento por Ressonância Magnética , Masculino , Vias Neurais/patologia
12.
Ann R Coll Surg Engl ; 103(2): e59-e64, 2021 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-33559550

RESUMO

Aggressive angiomyxoma is a rare mesenchymal tumour, primarily arising in the soft tissue of the pelvis and perineum in women of reproductive age. There is a paucity of evidence on optimal management because of the rarity of these tumours, but the consensus has been for surgical excision. We present the case of a 65-year-old woman who was admitted with left-sided buttock pain and initially diagnosed with a perianal abscess. She underwent examination under anaesthesia rectum with surgical excision of the lesion, subsequent histopathological and immunochemical analysis was suggestive of aggressive angiomyxoma. To complement our case report, we also present a literature review focusing on aggressive angiomyxoma in the ischioanal fossa (also known as the ischiorectal fossa) with only eight cases of primary aggressive angiomyxoma involving the ischioanal fossa documented to date. The primary aims of this case report and literature review are to familiarise clinicians with the clinical, histopathological and immunochemical features of these tumours, and to increase appreciation that despite the rarity of aggressive angiomyxoma, it might be considered in the differential diagnosis of ischioanal lesions.


Assuntos
Mixoma/diagnóstico , Períneo/patologia , Pós-Menopausa , Abscesso/diagnóstico , Idoso , Doenças do Ânus/diagnóstico , Erros de Diagnóstico , Exame Retal Digital , Feminino , Humanos , Imageamento por Ressonância Magnética , Mixoma/patologia , Mixoma/cirurgia , Neoplasia Residual , Períneo/diagnóstico por imagem , Períneo/cirurgia , Resultado do Tratamento
14.
Ann R Coll Surg Engl ; 102(8): 625-631, 2020 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-32777931

RESUMO

INTRODUCTION: Healthcare faces growing challenges. With reports of diminishing research output from the UK and Ireland in the leading surgical journals, this study aimed to ascertain whether this trend had been echoed in the trauma and orthopaedic literature. MATERIALS AND METHODS: Citable research output from the 10 globally leading trauma and orthopaedic journals was analysed from five individual years, over a 20-year period, to ascertain trends in absolute output, geographical mix, and level of evidence. RESULTS: The overall number of published articles fell by 14.5%. North America saw the greatest decline (-8.0%), followed by Japan (-5.6%) and Europe (-3.3%). The UK and Ireland (+2.9%) and the rest of the world (+13.9%) saw rising output. A decline in lower (levels IV and V) and a rise in higher (levels I, II and III) quality evidence was observed. The UK and Ireland had a greater proportion of higher-quality studies than North America and Japan, but lower than Europe and the rest of the world. The impact factor of the leading journal rose from 4.47 to 7.01. DISCUSSION: The research landscape has evolved, with leading journals placing greater emphasis on higher-quality evidence. UK and Irish research output remains stable, contributing 14% of the most highly cited publications in 2018, and challenging North America's dominance with a greater proportion of level I and II evidence in the leading journals. CONCLUSION: With the growing emergence of Europe and the rest of the world, UK and Irish authors must build upon the region's output despite political challenges such as Brexit. Increasing international collaboration will continue to play an important role.


Assuntos
Fator de Impacto de Revistas , Cirurgiões Ortopédicos/estatística & dados numéricos , Editoração/estatística & dados numéricos , Pesquisa Biomédica/estatística & dados numéricos , Humanos , Irlanda , Reino Unido
15.
Pediatr Blood Cancer ; 53(2): 168-73, 2009 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-19405133

RESUMO

BACKGROUND: Survival of children with ALL, in developing nations has not kept pace with cure rates in developed countries. Our study was designed to assess survival data and identify risk factors. PROCEDURE: Data of 762 patients with ALL were analyzed. Information regarding the clinical-demographic profile, therapy and course of illness were recorded. Status and duration at last follow-up were utilized to generate Kaplan-Meier survival curves. RESULTS: The mean age was 5.7 +/- 0.23 years (M/F, 3.2:1). Parents of 230 (30.2%) patients opted for no therapy. There were 68 and 60 deaths in induction and remission phases respectively. Besides these, 111 children either defaulted therapy or were lost to follow up. Relapsed disease was documented in 125 cases. The 5-year OS and EFS was 46% and 43% respectively. Survival analysis, using the Cox multivariate regression, for gender (P = 0.659, CI: 0.852-1.161), age (P = 0.943, CI: 0.725-1.225), symptom-diagnosis interval (P = 0.002, CI: 1.116-1.668), WCC (P < 0.001, CI: 1.353-1.814) and platelet count (P = 0.001, CI: 0.546-0.849) was performed. Bulk disease (P = 0.049, CI: 0.428-0.986), mediastinal adenopathy (P = 0.045, CI: 1.040-3.697), WCC (P = 0.016, CI: 1.395-2.691), platelet count (P = 0.031, CI: 0.431-0.967) and administration of 2 intensification blocks (P = 0.012, CI: 0.624-0.940) were found to be significant predictors of outcome by multivariate analysis. CONCLUSIONS: The management of ALL requires financial resources and access to quality supportive care. One third of our patients opted for no therapy. The other problem areas were a high proportion of therapy defaulters, lost to follow up and infection related deaths during induction and remission phases. The introduction of remedial measures for resolving the difficulties identified would hopefully improve cure rates in ALL in developing nations.


Assuntos
Leucemia-Linfoma Linfoblástico de Células Precursoras/mortalidade , Adolescente , Protocolos de Quimioterapia Combinada Antineoplásica/uso terapêutico , Criança , Pré-Escolar , Feminino , Humanos , Índia , Estimativa de Kaplan-Meier , Masculino , Leucemia-Linfoma Linfoblástico de Células Precursoras/tratamento farmacológico , Leucemia-Linfoma Linfoblástico de Células Precursoras/fisiopatologia , Prognóstico , Estudos Retrospectivos , Resultado do Tratamento
17.
Pediatr Hematol Oncol ; 26(6): 398-406, 2009 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-19657989

RESUMO

The study was designed to determine the pattern of relapsed disease and identify problem areas in management. Relapse occurred in 111 (23.9%) of the boys and 16 (13.0%) of the girls. The majority relapsed while on chemotherapy. Isolated relapse in the marrow and in the CNS was seen in 51 (40.8%) and 24 (18.9%) patients, respectively. Isolated testicular relapse was seen in 17 (15.3%) of the 111 boys who suffered a relapse. Age and TLC at initial presentation and gender in relapsers and nonrelapsers were compared. Multivariate regression analysis showed that gender (p = .03) and TLC (p = .001) were significant predictors of relapse. Relapse of disease while on chemotherapy and high incidence of CNS and testicular relapse indicate the need for reappraisal of treatment protocols.


Assuntos
Neoplasias da Medula Óssea/patologia , Neoplasias do Sistema Nervoso Central/patologia , Recidiva Local de Neoplasia/patologia , Leucemia-Linfoma Linfoblástico de Células Precursoras/patologia , Neoplasias Testiculares/patologia , Adolescente , Protocolos de Quimioterapia Combinada Antineoplásica/uso terapêutico , Neoplasias da Medula Óssea/tratamento farmacológico , Neoplasias do Sistema Nervoso Central/tratamento farmacológico , Criança , Pré-Escolar , Terapia Combinada , Irradiação Craniana , Feminino , Humanos , Índia , Lactente , Masculino , Recidiva Local de Neoplasia/terapia , Leucemia-Linfoma Linfoblástico de Células Precursoras/terapia , Prognóstico , Indução de Remissão , Estudos Retrospectivos , Fatores de Risco , Taxa de Sobrevida , Neoplasias Testiculares/tratamento farmacológico , Resultado do Tratamento
18.
Dermatol Online J ; 15(3): 2, 2009 Mar 15.
Artigo em Inglês | MEDLINE | ID: mdl-19379646

RESUMO

Classification schemes proposed for vascular lesions are the subjects of significant controversy. Cutaneous epithelioid angiomatous nodule (CEAN) was described in 2004, but there is no agreement as to whether this is a distinct entity or a type of either epithelioid hemangioma or angiolymphoid hyperplasia with eosinophilia. We present a typical case of CEAN and discuss nine other cases from our institution. We then provide two opposing viewpoints concerning its classification.


Assuntos
Hiperplasia Angiolinfoide com Eosinofilia/patologia , Angiomatose Bacilar/patologia , Células Endoteliais/patologia , Granuloma Piogênico/patologia , Adolescente , Adulto , Fatores Etários , Idoso , Idoso de 80 Anos ou mais , Hiperplasia Angiolinfoide com Eosinofilia/classificação , Hiperplasia Angiolinfoide com Eosinofilia/diagnóstico , Angiomatose Bacilar/classificação , Angiomatose Bacilar/diagnóstico , Criança , Derme/irrigação sanguínea , Derme/patologia , Diagnóstico Diferencial , Feminino , Seguimentos , Granuloma Piogênico/classificação , Granuloma Piogênico/diagnóstico , Humanos , Masculino , Pessoa de Meia-Idade , Especificidade de Órgãos , Estudos Retrospectivos , Fatores Sexuais , Adulto Jovem
20.
Indian J Hum Genet ; 14(2): 67-9, 2008 May.
Artigo em Inglês | MEDLINE | ID: mdl-20300297

RESUMO

A 5-month-old male infant presented with weak cry, decreased body movements, tightness of whole body since birth, and one episode of generalized seizure on day 4 of life. He was born at term by elective caesarian section performed for breech presentation. The child had failure to thrive, contractures at elbow and knee joints, hypertonia, microcephaly, small mouth, retrognathia, and camptodactyly. There was global developmental delay. Abdominal examination revealed umbilical and bilateral inguinal hernia. Visual evoked response and brainstem evoked response audiometry were abnormal. Nerve conduction velocity was normal. Magnetic resonance imaging of brain revealed paucity of white matter in bilateral cerebral hemispheres with cerebellar and brain stem atrophy. The differential diagnoses considered in the index patient were distal arthrogryposis (DA) syndrome, cerebroculofacioskeletal syndrome, and Pena Shokier syndrome. The index patient most likely represents a variant of DA: Sheldon Hall syndrome.

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