RESUMO
Testicular adrenal rest tumours (TARTs) have been described in patients with congenital adrenal hyperplasia (CAH). The aim of the study was to determine the prevalence of TARTs in patients with CAH, the associated factors and their impact on gonadal function. It is a prospective study concerning six young adult men with CAH, four cases with 21-hydroxylase deficiency and two cases with 11-hydroxylase deficiency. All patients were under glucocorticoid therapy. The mean age was 25 years (range: 20-31). All patients underwent a physical examination with testicular palpation, scrotal ultrasonography, a blood sample for serum testosterone, FSH, LH, inhibin B, ∆4-androstenedione and 17-OH-progesterone measurements and a semen analysis. Ultrasound revealed TARTs in four patients; three were bilateral. The mean tumour size was 6.3 ml (range: 0.02-14.1). The tumours were palpable in two cases. 17-OH-progesterone was <10 ng/ml in all cases. Decreased testosterone level was found in one case. The semen analysis revealed azoospermia in one case and poor semen quality in four patients. TARTs were common and associated with impaired spermatogenesis.
Assuntos
Hiperplasia Suprarrenal Congênita/epidemiologia , Tumor de Resto Suprarrenal/epidemiologia , Astenozoospermia/epidemiologia , Azoospermia/epidemiologia , Neoplasias Primárias Múltiplas/epidemiologia , Oligospermia/epidemiologia , Neoplasias Testiculares/epidemiologia , 17-alfa-Hidroxiprogesterona/metabolismo , Hiperplasia Suprarrenal Congênita/metabolismo , Tumor de Resto Suprarrenal/diagnóstico , Adulto , Androstenodiona/metabolismo , Astenozoospermia/diagnóstico , Azoospermia/diagnóstico , Estudos de Coortes , Hormônio Foliculoestimulante/metabolismo , Humanos , Inibinas/metabolismo , Hormônio Luteinizante/metabolismo , Masculino , Neoplasias Primárias Múltiplas/diagnóstico , Oligospermia/diagnóstico , Prevalência , Estudos Prospectivos , Contagem de Espermatozoides , Motilidade dos Espermatozoides , Neoplasias Testiculares/diagnóstico , Testosterona/metabolismo , Adulto JovemRESUMO
The contribution of BRCA1/BRCA2 mutations to hereditary breast cancer in the Tunisian population has not been accurately estimated. The purpose of our study was to estimate the incidence and spectrum of pathogenic mutations in BRCA1/2 genes in early onset and familial breast/ovarian cancer among Tunisian women. To identify predictive factors for BRCA1/2 mutations, we screened the entire coding sequences and intron/exon boundaries of BRCA1/BRCA2 genes in 48 patients by direct sequencing. Twelve pathogenic mutations were detected (25%); three in BRCA1 (c.211dupA in four families, c.5266dupC in three families and c.1504_1508delTTAAA in one family) and two novel mutations in BRCA2 (c.1313dupT in two families and c.7654dupT in two families). We also identified 23 different polymorphisms and unclassified variants. These results indicate that our population has a spectrum of recurrent BRCA mutations.
Assuntos
Proteína BRCA1/genética , Proteína BRCA2/genética , Neoplasias da Mama/genética , Neoplasias Ovarianas/genética , Adulto , Neoplasias da Mama/epidemiologia , Feminino , Humanos , Mutação , Neoplasias Ovarianas/epidemiologia , TunísiaRESUMO
Steroid 11ß-hydroxylase deficiency is the second most common cause of congenital adrenal hyperplasia, resulting in virilization, glucocorticoid deficiency and hypertension. The 11ß-hydroxylase enzyme is encoded by the CYP11B1 gene and mutations in this gene are responsible for this disease. The aim of this study was to characterize mutations in the CYP11B1 gene and to determine their frequencies in a cohort of Tunisian patients. The molecular genetic analysis was performed by direct nucleotide sequencing of the CYP11B1 gene in 15 unrelated Tunisian patients suffering from classical 11ß-hydroxylase deficiency. Only two mutations were detected in homozygous state in the CYP11B1 gene of all patients, the p.Q356X in exon 6 (26.6%) and the novel p.G379V in exon 7 with large prevalence (73.3%). This is the first report of screening for mutations of CYP11B1 gene in the Tunisian population and even in the Arab population.
Assuntos
Análise Mutacional de DNA , Mutação , Esteroide 11-beta-Hidroxilase/genética , Hiperplasia Suprarrenal Congênita/diagnóstico , Hiperplasia Suprarrenal Congênita/enzimologia , Hiperplasia Suprarrenal Congênita/genética , Sequência de Bases , Códon sem Sentido , Consanguinidade , Feminino , Humanos , Masculino , Mutação de Sentido Incorreto , Reação em Cadeia da Polimerase , Análise de Sequência de DNA , TunísiaRESUMO
We identified in a large Tunisian pedigree a novel UBE3A frameshift mutation in exon 16 coding region, and we expect that the resulting UBE3A truncated protein in our patients is non-functional since the mutation implies the catalytic region of the enzyme. The family includes 14 affected patients born from four sisters. This mutation was found in all surviving affected individuals and their mothers pointing out the importance of genetic counseling possibility in Angelman syndrome (AS). All patients had severe mental retardation with epilepsy and microcephaly. Minor clinical expression variation was observed among the investigated patients. The severity of clinical expression is related to the detected molecular variation: deletion of 15 bp and insertion of 7 bp. These results are concordant with the gene expression observed in previously reported individuals with AS and truncated UBE3A protein.
Assuntos
Síndrome de Angelman/genética , Mutação , Ubiquitina-Proteína Ligases/genética , Sequência de Bases , Domínio Catalítico , Primers do DNA , Éxons , Feminino , Humanos , Masculino , Linhagem , Tunísia , Ubiquitina-Proteína Ligases/metabolismoRESUMO
Alport syndrome is a rare progressive hematuric nephropathy associated with sensorineural deafness. Leiomyomatosis associated with Alport syndrome is quite rare. We report a particular case of Alport syndrome which was diagnosed in the setting of an oesophageal leiomyomatosis. Alport syndrome and leiomyomatosis are caused by mutation of the genes encoding for the alpha chain of type IV collagen. In view of the important clinical and genetic implications, renal function and urinary status should be controlled in any patient with oesophageal leiomyomatosis.
Assuntos
Neoplasias Esofágicas/complicações , Leiomiomatose/complicações , Nefrite Hereditária/diagnóstico , Adulto , Neoplasias Esofágicas/diagnóstico , Neoplasias Esofágicas/genética , Neoplasias Esofágicas/cirurgia , Esofagectomia , Humanos , Imuno-Histoquímica , Leiomiomatose/diagnóstico , Leiomiomatose/genética , Leiomiomatose/cirurgia , Masculino , Mutação , Nefrite Hereditária/complicações , Nefrite Hereditária/genética , LinhagemRESUMO
An inappropriate pilot hole size (PHS) is one of several factors that affects the stiffness of the screw-bone fixation. The present study uses finite element models to investigate the effect of varying the PHS on the biomechanical environment of the screw-bone interface of the fractured bone, after the screw insertion and under the immediate body weight pressure (BWP). Four PHS from 71% up to 85% of the screw external diameter (SED) were considered for analysis. A non linear material behaviour of the bone with ductile damage properties was used in the study. To validate the numerical models, an experimental pull-out test was carried out using a synthetic bone. The results of the insertion process demonstrated that the relatively smaller holes (71% and 75.5% of SED) increased the insertion torque value within the recommended level, caused more bone radial extension deformation and maximized the contact area between the bone threads and the screw, in comparison to the PHS higher than 80% of SED. Under the immediate BWP after osteosynthesis, the stress level exceeds the elastic limit and becomes high enough to initiate the ductile damage of the bone. Also, enlarging PHS from 71% to 75.5% of SED increased the bone microdisplacement at the screw-bone interface from 75 up to 100 µm, and that reduced the stiffness of the fixation.
Assuntos
Parafusos Ósseos , Análise de Elementos Finitos , Fixação Interna de Fraturas , Teste de Materiais , Estresse Mecânico , Resistência à Tração , Suporte de CargaAssuntos
Proteínas Adaptadoras de Transdução de Sinal/genética , Deleção de Genes , Homozigoto , Proteínas de Membrana/genética , Adolescente , Criança , Pré-Escolar , Consanguinidade , Proteínas do Citoesqueleto , Feminino , Humanos , Doenças Renais Císticas/congênito , Doenças Renais Císticas/epidemiologia , Doenças Renais Císticas/genética , Falência Renal Crônica/genética , Masculino , Tunísia/epidemiologia , Adulto JovemRESUMO
To determine the patterns of infectious complications in renal transplant recipients in our center, we evaluated 48 patients (29 men and 19 women) who were transplanted between 1994 and 2003. The average age of the patients was 29 years. Thirty (62.5%) and 18 (37.5%) transplants were from living related and cadaveric donors, respectively. Posttransplant immunosuppression consisted of azathioprine or mycophenolate mofetil (MMF), prednisone, antithymocyte globulin (ATG), and cyclosporine or tacrolimus. The acute rejection episodes were treated with pulse doses of methylprednisolone; steroid-resistant rejection was treated with ATG or muromonab (OKT3). All patients received prophylaxis with sulfadoxine-pyrimethamine; none received prophylaxis against cytomegalovirus (CMV) infection. Thirty-nine (81%) recipients developed 77 confirmed episodes of infection; 35 (46%) episodes occurred in the early postoperative period, 28 (36%) in the first month and 14 (18%) after 6 months. According to the type of infection, there were 24 urinary tract, 16 CMV, seven herpetic, nine general septic, six fungal, four pneumonia, one disseminated nocardial, and 10 miscellaneous episodes. All 26 (100%) patients who had acute rejection episodes developed infections compared with 13/22 (59%) who did not have rejection (P < .01). There was a significant correlation between CMV disease and acute rejection and/or tacrolimus or MMF use. CMV infection occurred after the additional immunosuppressive treatment for acute rejection in 10 patients or during the use of tacrolimus or MMF in six patients. We conclude that CMV infection was the most frequent opportunistic pathogen in our renal transplant population and related to the intensive antirejection therapy, followed by urinary tract infections within 3 months after surgery.
Assuntos
Transplante de Rim/efeitos adversos , Infecção da Ferida Cirúrgica/epidemiologia , Adulto , Infecções Bacterianas/epidemiologia , Infecções por Citomegalovirus/epidemiologia , Seguimentos , Humanos , Doadores Vivos , Estudos Retrospectivos , Fatores de Tempo , Doadores de Tecidos , Transplante Homólogo , Infecções Urinárias/epidemiologiaRESUMO
UNLABELLED: Alport syndrome (AS) is an hereditary disease characterised by the association of progressive hematuria nephritis. The diagnosis is based on clinical genetic and ultrastructural findings. Nowadays, immunohistochemical technique is of great interest. It enables us to analyze the distribution of the different chains of the type IV collagen in renal basement membrane (RBM) and epidermal basement membrane (EBM) which appeared to be abnormal in 70% of cases. METHODS: We report a prospective study of five families affected with AS. Six patients were investigated by immunohistochemical studies of kidney (3 cases) and skin (6 cases) frozen specimens. Monoclonal antibodies recognizing the collagenous domain of alpha1 (MAB1), alpha3 (MAB3) and alpha5 (MAB5) chains of type IV collagen were used. Two methods were performed: direct immunofluorescence and immunohistochemical (ultravision) analysis. RESULTS: The different chains distribution of type IV collagen in the EBM and RBM was normal in four cases (4 men), abnormal in two patients (1 man and woman). Based on the clinical, genetical and immunohistochemical findings we established three transmission modes: autosomal recessive in two families, dominant X linked in two other familiales, and autosomal dominant in one family. CONCLUSION: Immunohistochemical studies is a simple technique of an easy interpretation accomplished on kidney frozen specimen, or even on a simple cutaneous biopsy. It could be very useful for the diagnosis and enables us in addition to determine the mode of transmission of AS.
Assuntos
Imuno-Histoquímica/métodos , Nefrite Hereditária/diagnóstico , Adolescente , Adulto , Anticorpos Monoclonais , Biópsia , Feminino , Imunofluorescência , Humanos , Rim/patologia , Masculino , Nefrite Hereditária/patologia , Estudos ProspectivosRESUMO
This work aims to evaluate the efficiency and reliability of two Non-Destructive Testing (NDT) methods for damage assessment in bridges' anchorages. The Acousto-Ultrasonic (AU) technique is compared to classical Ultrasonic Testing (UT) in terms of defect detection and structural health classification. The AU technique is firstly used on single seven-wire strands damaged by artificial defects. The effect of growing defects on the waves traveling through the strands is evaluated. Thereafter, three specimens of anchorages with unknown defects are inspected by the AU and UT techniques. Damage assessment results from both techniques are then compared. The structural health conditions of the specimens can be then classified by a damage severity criterion. Finally, a damaged anchorage socket with mastered defects is controlled by the same techniques. The UT allows the detection and localization of damaged wires. The AU technique is used to bring out the effect of defects on acoustic features by comparing a healthy and damaged anchorage sockets. It is concluded that the UT method is suitable for local and crack-like defects, whereas the AU technique enables the assessment of the global structural health of the anchorage zones.
RESUMO
We combined restriction site associated DNA sequencing (RADseq) using a hypomethylation-sensitive enzyme and messenger RNA sequencing (mRNAseq) to develop molecular markers for the 16 gigabase genome of Cedrus atlantica, a conifer tree species. With each method, Illumina(®) reads from one individual were used to generate de novo assemblies. SNPs from the RADseq data set were detected in a panel of one single individual and three pools of three individuals each. We developed a flexible script to estimate the ascertainment bias in SNP detection considering the pooling and sampling effects on the probability of not detecting an existing polymorphism. Gene Ontology (GO) and transposable element (TE) search analyses were applied to both data sets. The RADseq and the mRNAseq assemblies represented 0.1% and 0.6% of the genome, respectively. Genome complexity reduction resulted in 17% of the RADseq contigs potentially coding for proteins. This rate was doubled in the mRNAseq data set, suggesting that RADseq also explores noncoding low-repeat regions. The two methods gave very similar GO-slim profiles. As expected, the two assemblies were poor in TE-like sequences (<4% of contigs length). We identified 17,348 single nucleotide polymorphisms (SNPs) in the RADseq data set and 5,714 simple sequence repeats (SSRs) in the transcriptome. A subset of 282 SNPs was validated using the Fluidigm genotyping technology, giving a conversion rate of 50.4%, falling within the expected range for conifers. Increasing sample size had the greatest effect for ascertainment bias reduction. These results validated the utility of the RADseq approach for highly complex genomes such as conifers.
Assuntos
Cedrus/classificação , Cedrus/genética , DNA de Plantas/química , DNA de Plantas/genética , Marcadores Genéticos , Genoma de Planta , Sequenciamento de Nucleotídeos em Larga Escala , Dados de Sequência Molecular , Polimorfismo de Nucleotídeo Único , Análise de Sequência de DNARESUMO
Contralateral axillary metastases (CAM) of breast cancer are uncommon, they state some diagnostics and therapeutics problems. From February 1993 until June 1996, 6 cases of CAM were detected in 123 women having a breast's cancer (4.9%). The diagnostic of CAM, was retained after a normal clinical and mammographic examination of ipsilateral breast, and a anatomopathological proof confirming the carcinomatous infiltration of axillary ganglions. These metastases were synchronous for 3 patients and metachronous for the 3 others with an appearance's mean delay of 12 months. The 6 patients were treated for a breast's cancer locally advanced and a tumour with internal or central seat in 5 cases. The CAM were associated to others metastatic areas in 2 patients. Five patients have had a locoregional treatment of CAM (curage and/or axillary radiotherapy), associated to chemotherapy. The 6th patient, is multimetastatic, had refused the treatment. Only 1 patient has developed a tumor of ipsilateral breast after a mean delay of 7 months, others metastatic localizations are appeared in 2 patients after a mean delay of 8 months. The CAM are considered a scare entity with physiopathological mechanism not yet well elucidated. They are perhaps, the prerogative of advanced tumors and the often before metastatic spreading. A problem remains to be raised: is it a question of a real CAM, or an expression of a ipsilateral breast's occult carcinomatous?
Assuntos
Neoplasias da Mama/patologia , Metástase Linfática/patologia , Adulto , Neoplasias da Mama/terapia , Feminino , Humanos , Pessoa de Meia-Idade , Estadiamento de NeoplasiasRESUMO
OBJECTIVE: The purpose of this study was to examine the contribution of internal trans-fistulary drainage without opening the cystic cavity for the treatment of hydatic cyst of the liver. PATIENTS AND METHODS: Between 1985 and 1990, 14 patients with hydatid cyst of the liver communicating with the bile duct were treated by internal trans-fistulary drainage without opening the hydatic cavity. Choledocoscopy demonstrated good bile flow without a remaining cystic fragment in all cases. The residual cavity was drained via an external drain in the common bile duct. A second hydatic cyst of the liver was also treated in 4 patients. RESULTS: Internal trans-fistulary drainage was achieved easily. There were two treatment-related postoperative complications: bilary leakage in one patient and infection of the residual cavity leading to septicemia and death in another. CONCLUSION: Internal trans-fistulary drainage without opening the hydatic cavity is indicated for central hydatic cyst of the liver measuring less than 15 cm with a flexible pericyst and a large biliocystic fistula measuring more than 5 mm. Peroperative choledochoscopy of the hydatic cavity is necessary.
Assuntos
Fístula Biliar/etiologia , Doenças do Ducto Colédoco/etiologia , Drenagem , Equinococose Hepática/cirurgia , Esfíncter da Ampola Hepatopancreática , Adolescente , Adulto , Idoso , Fístula Biliar/diagnóstico , Fístula Biliar/cirurgia , Criança , Colangiografia , Colecistectomia , Doenças do Ducto Colédoco/diagnóstico , Doenças do Ducto Colédoco/cirurgia , Drenagem/métodos , Equinococose Hepática/complicações , Equinococose Hepática/diagnóstico , Feminino , Seguimentos , Humanos , Masculino , Pessoa de Meia-Idade , Complicações Pós-Operatórias , Fatores de TempoRESUMO
The authors report 3 rare cases of liposarcoma occurring in the perineal or paratesticular regions. They review literature data concerning this particular form of soft tissue sarcoma and emphasize on prognosis which depends mainly on its histo-pathologic type.
Assuntos
Neoplasias dos Genitais Masculinos/diagnóstico , Lipossarcoma/diagnóstico , Períneo , Escroto , Adolescente , Idoso , Idoso de 80 Anos ou mais , Neoplasias dos Genitais Masculinos/patologia , Neoplasias dos Genitais Masculinos/cirurgia , Humanos , Lipossarcoma/patologia , Lipossarcoma/cirurgia , MasculinoRESUMO
Renal oxalate deposition can be seen with primary hyperoxaluria, malabsorptive states, ethylene glycol toxicity and, rarely, with excessive vitamin C ingestion. We report a case of secondary hyperoxaluria in which the diagnosis was not considered initially because there was no past history of urinary calculi and no evidence of nephrocalcinosis on plain X-ray of the abdomen and ultrasonography. The disease was detected and diagnosed only after kidney transplantation. Secondary oxalosis can cause graft loss or delayed graft function. Biopsy of the allograft should be carefully examined for oxalate deposits even in the absence of a family history. When oxalosis is diagnosed, intensifying hemodialysis (HD) to eliminate calcium oxalate can help in the recovery of renal function in some cases. Systematic vitamin C supplementation in HD patients should be avoided as it can be a cause of secondary oxalosis.
Assuntos
Ácido Ascórbico/efeitos adversos , Hiperoxalúria/induzido quimicamente , Falência Renal Crônica/terapia , Transplante de Rim , Rim/efeitos dos fármacos , Diálise Renal , Adulto , Biópsia , Feminino , Humanos , Hiperoxalúria/diagnóstico , Hiperoxalúria/fisiopatologia , Hiperoxalúria/terapia , Rim/patologia , Rim/fisiopatologia , Falência Renal Crônica/fisiopatologia , Falência Renal Crônica/cirurgia , Diálise Renal/efeitos adversos , Resultado do TratamentoAssuntos
Acremonium/isolamento & purificação , Infecções Oculares Fúngicas/diagnóstico , Infecções Oculares Fúngicas/microbiologia , Ceratite/diagnóstico , Ceratite/microbiologia , Acremonium/fisiologia , Adulto , Antifúngicos/uso terapêutico , Úlcera da Córnea/diagnóstico , Úlcera da Córnea/microbiologia , Feminino , HumanosRESUMO
The incidence of Kaposi sarcoma (KS) has substantially increased among immunocompromised patients, suggesting a role for immunosuppressive drugs. The aim of this study was to evaluate the incidence, features, and outcome of KS among 307 kidney transplantation patients at our center between January 1994 and June 2010. During the study period, the 10 patients who developed KS (3.25%) showed a mean age at transplantation of 35.8 ± 8.7 years (range, 22 to 49 years). The mean interval between transplantation and occurrence of KS was 24.7 ± 21.36 months (range, 6 to 64 months). The mean time of antithymocyte globulin induction was 9.5 days (range, 6 to 13 days). KS was restricted to the skin in 7 cases, among which, one presented with associated Hodgkin lymphoma. Visceral involvement (one lung and one colon) was observed in two cases. One patient presented with a gastric KS without skin lesions. Immunosuppressive treatment was reduced, then withdrawn in three cases, resulting in regression of KS a few weeks later, but with graft loss requiring hemodialysis at 1, 3 and 4 months. Among the remaining 7 cases, we stopped mycophenalate mofetil (MMF) and switched from calcineurin inhibitors to sirolimus. Allograft function remained stable after the switch. Only one patient who already had allograft dysfunction due to biopsy-proven chronic allograft nephropathy. Deteriorated progressively, undergoing hemodialysis at 2 years after KS diagnosis. In conclusion, we observed a relatively high incidence of KS among our cases. The introduction of sirolimus resulted in complete regression of KS lesions with preserved graft function.
Assuntos
Neoplasias do Colo/imunologia , Imunossupressores/uso terapêutico , Transplante de Rim/imunologia , Neoplasias Pulmonares/imunologia , Sarcoma de Kaposi/imunologia , Sirolimo/uso terapêutico , Neoplasias Cutâneas/imunologia , Neoplasias Gástricas/imunologia , Adulto , Inibidores de Calcineurina , Neoplasias do Colo/epidemiologia , Substituição de Medicamentos , Quimioterapia Combinada , Feminino , Rejeição de Enxerto/imunologia , Rejeição de Enxerto/prevenção & controle , Sobrevivência de Enxerto/efeitos dos fármacos , Humanos , Imunossupressores/efeitos adversos , Incidência , Transplante de Rim/efeitos adversos , Neoplasias Pulmonares/epidemiologia , Masculino , Pessoa de Meia-Idade , Diálise Renal , Sarcoma de Kaposi/epidemiologia , Neoplasias Cutâneas/epidemiologia , Neoplasias Gástricas/epidemiologia , Fatores de Tempo , Resultado do Tratamento , Tunísia/epidemiologiaRESUMO
Brown tumor is a rare complication of secondary hyperparathyroidism. It is exceptionally encountered after kidney transplantation. We here report on a 54-year-old male recipient who developed a brown tumor localized in the right forearm, and whose initial presentation was atypical, mimicking a bone tumor. Hence, diagnosis of brown tumors should be suggested by clinicians in a context of hyperparathyroidism.