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1.
Prog Urol ; 32(5): 388-399, 2022 Apr.
Artigo em Francês | MEDLINE | ID: mdl-35125316

RESUMO

INTRODUCTION: Inflammatory and sensory chronic bladder diseases have a significant impact on quality of life. These pathologies share alteration of the layer between urine and urothelium, making the use of topical agents appropriate. OBJECTIVES: Review the efficacy and tolerance of intravesical treatments for these pathologies. Give practical guidelines for the use of agents currently available in France. METHOD: A narrative review was performed in March 2021 using PubMed/MEDLINE, Google Scholar and the international guidelines. Pharmaceutical companies and pharmacies were interviewed. RESULTS: Although numerous molecules were tested over the last 5 decades, only dimethylsulfoxyde and glycosaminoglycans are available in France today. Results are promising: response rates are up to 95% and 84% respectively in bladder pain syndrome. In urinary tract infections, glycosaminoglycans could decrease annual number of cystitis by 2.56 (95% confidence interval (CI) -3.86, -1.26; P<0.001) and increase the time to first cystitis recurrence by 130 days (95% CI: 5.84 - 254.26; P=0.04). In radiation cystitis, results could be comparable to hyperbaric oxygen regarding pain and frequency of voiding (-1.31±1.3 visual analogic scale et -1.5±1.4 voiding per day, respectively, at 12 months, P<0.01). However, literature has a low level of evidence. CONCLUSION: Chronic bladder diseases have limited treatment options. Intravesical agents are a good alternative, although their cost is significant and their outcome uncertain.


Assuntos
Cistite Intersticial , Cistite , Administração Intravesical , Doença Crônica , Cistite/tratamento farmacológico , Cistite Intersticial/tratamento farmacológico , Feminino , Glicosaminoglicanos/uso terapêutico , Humanos , Masculino , Qualidade de Vida
2.
Prog Urol ; 32(4): 247-257, 2022 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-34920924

RESUMO

OBJECTIVE: To determine the usefulness of mid-urethral slings (MUS) in the surgical management of women presenting with urinary stress incontinence (USI) METHOD: A consensus committee of multidisciplinary experts (CUROPF) was convened and focused on PICO questions concerning the efficacy and safety of MUS surgery compared to other procedures and concerning which approach (retropubic (RP) vs transobturator (TO)) should be proposed as a first-line MUS surgery for specific subpopulations (obese; intrinsic sphincteric deficiency (ISD); elderly) RESULTS: As compared to other procedures (urethral bulking agents, traditional slings and open colposuspension), the MUS procedure should be proposed as the first-line surgical therapy (strong agreement). MUS surgery can be associated with complications and proper pre-operative informed consent is mandatory (strong agreement). Mini-slings (SIS/SIMS) should only be proposed in clinical trials (strong agreement). Both RP and TO approaches may be proposed for the insertion of MUS (strong agreement). However, if the woman is willing to accept a moderate increase in per-operative risk, the RP approach should be preferred (strong agreement) since it is associated with higher very long-term cure rates and as it is possible to completely remove the sling surgically if a severe complication occurs. The RP approach should be used for the insertion of MUS in a woman presenting with ISD (strong agreement). Either the RP or TO approach should be used for the insertion of MUS in an obese woman presenting with USI (strong agreement). In very obese women (BMI ≥35-40kg/m2), weight loss should be preferred prior to MUS surgery and bariatric surgery should be discussed (strong agreement) CONCLUSION: The current Opinion provides an appropriate strategy for both the selection of patients and the best therapeutic approach in women presenting with USI.


Assuntos
Slings Suburetrais , Doenças Uretrais , Incontinência Urinária por Estresse , Idoso , Feminino , Humanos , Masculino , Slings Suburetrais/efeitos adversos , Resultado do Tratamento , Uretra , Doenças Uretrais/complicações , Incontinência Urinária por Estresse/etiologia , Incontinência Urinária por Estresse/cirurgia , Procedimentos Cirúrgicos Urológicos/métodos
3.
Prog Urol ; 31(17): 1141-1166, 2021 Dec.
Artigo em Francês | MEDLINE | ID: mdl-34794867

RESUMO

INTRODUCTION: Placement of a mid-urethral sling is the gold standard in the surgical management of stress urinary incontinence in women in France. The cure rate of this material is no longer to be demonstrated, but the per- and post-operative complications are currently the subject of a growing controversy not only in Europe but also across the Channel and across the Atlantic, having led to the modification of operative indications. In France, recommendations are also evolving with a stricter framework for indications for surgery by multidisciplinary consultation meeting and an obligation for postoperative follow-up in the short and long term. OBJECTIVES: In this context, CUROPF realized a review of the literature bringing together the available scientific evidence concerning the occurrence of per- and post-operative complications relating to the installation of mid urethral sling. The bibliographic search was carried out using the Medline database and 123 articles were selected. RESULTS: Analysis of the data highlights various complications, depending on the implanted material, the patient and the indication for surgery. The retro-pubic mid urethral sling provides more bladder erosion during surgery (up to 14%), more suprapubic pain (up to 4%) and more acute urinary retention (up to 19,7%) and postoperative dysuria (up to 26%). The trans obturator mid-urethral sling is responsible for more vaginal erosion during the operation (up to 10,9%), more lower limb pain of neurological origin (up to 26,7%). The risk of developing over active bladder is similar in both procedures (up to 33%). But these risks of complications must be balanced by the strong impact of urinary incontinence surgery on the overall quality of life of these women. CONCLUSION: Thus, surgical failure and long term complications exist but should not limit the surgical management of stress urinary incontinence with mid urethral tape. Women should be treated with individualized decision-making process and long-term follow -up is necessary.


Assuntos
Slings Suburetrais , Incontinência Urinária por Estresse , Urologia , Feminino , Humanos , Qualidade de Vida , Slings Suburetrais/efeitos adversos , Resultado do Tratamento , Incontinência Urinária por Estresse/cirurgia , Procedimentos Cirúrgicos Urológicos/efeitos adversos
4.
Prog Urol ; 27(12): 647-653, 2017 Oct.
Artigo em Francês | MEDLINE | ID: mdl-28629784

RESUMO

To provide an adequate lifelong urological care in the complex period of adolescence, a transition consultation conducted by a paediatric surgeon and an urologist was developed in our institution. As a real rite of passage, it allows the follow-up and the adapted care of urological conditions, sometimes complex, and permits the transition between childhood and the world of grown-ups. We reported our experience at the Children Hospital of our institution (paediatric surgery and urology departments). During a 6 months period (January-July 2015), forty-five young adults with a mean age of 17.8±3.6 years were seen in transition consultation. Eight patients had neurogenic voiding disorders (4 spina bifida, 1 multiple sclerosis, 1 mitochondrial encephalopathy, 1 metachromic leucodystrophy, 1 paraplegia), 9 patients had idiopathic voiding disorders, 1 patient had a non obstructive malformative uropathy; and 30 patients had surgery during infancy and childhood: hypospadias in 17 young men and malformative uropathy in 13 patients. This consultation occurred within 4.6±4.5 years after the last consultation with paediatric surgeon. For 6 patients, the transition consultation was the first for the urological problem. After this consultation, 8 patients stayed in paediatric surgery and 37 patients were referred to adult urologist. Among those 8 patients: 2 patients had cognitive and psychiatric disorders; 4 patients refused to be transferred to adult unit; 2 patients wanted to come back at transition consultation. Among the 37 patients transferred in adult urological care: 6 patients had urological surgery, and one patient was referred to a sexology consultation. The remaining 30 patients have initiated long-term monitoring. All reconvened patients came back at the follow-up visit (at least 12 months follow-up). A 16-year-old patient (spina bifida with polymalformative syndrome) developed a depressive syndrome at the end of the consultation, in the motive of an awareness of the definitive nature of his handicap and the need of medical follow-up throughout his life. Transition consultation makes easier the passage from paediatric care to adult urological care. It allows a smooth change of interlocutors, facilitates subsequent care and improves compliance to medical follow-up. It requires a good collaboration between paediatric and adult care units. Transition responds to an increasing request of adolescents, families, and medical teams, since care rupture during adolescence can have functional and psychological consequences. LEVEL OF PROOF: 4.


Assuntos
Transição para Assistência do Adulto , Doenças Urológicas/terapia , Adolescente , Feminino , Humanos , Masculino , Encaminhamento e Consulta , Adulto Jovem
5.
Prog Urol ; 25(11): 665-72, 2015 Sep.
Artigo em Francês | MEDLINE | ID: mdl-26022237

RESUMO

INTRODUCTION: The purpose of this study was to evaluate safety and tolerability of transcutaneous tibial nerve stimulation (TENS) in patients under 15years of age with refractory overactive bladder. MATERIALS AND METHODS: A retrospective analysis was conducted on outcomes of TENS (1daily 20-minute session, 10Hz) in patients with refractory overactive bladder, excluding patients with neurogenic bladder. Treatment efficacy was evaluated on symptomatic improvement and voiding schedule. Healing was defined as following: no recurrence of urinary tract infection, normal urodynamic voiding parameters, no nighttime continence disorder, normal uroflowmetry. RESULTS: Nineteen consecutive patients with refractory overactive bladder were treated from November 2010 to March 2012 (11girls, 8boys, age 12.1±2.7 years). Three patients reported only daytime voiding disorders, the others reported daytime and nighttime voiding disorders. Ten patients reported febrile urinary tract infection (1 boy, 9 girls). The average length of treatment was 6 months. Two patients were lost to follow-up. Thirteen patients had only tibial TENS; 3 patients had tibial TENS and trospium chloride or desmopressin. At 1-month assessment, 16 patients out of 17 (94%) reported symptomatic improvement. At the end of treatment, 12 patients out of 17 (70%) met healing criteria (5 boys, 7girls), without relapse within 9 months. Three boys (18%) had partial improvement (no daytime wetting, but increased daytime frequency). No patient reported side effects. CONCLUSION: Tibial TENS is a safe, non invasive and effective treatment in refractory overactive bladder in children. The success rate is 70%, with no side effect and no relapse at the end of the treatment in our study.


Assuntos
Nervo Tibial , Estimulação Elétrica Nervosa Transcutânea/métodos , Bexiga Urinária Hiperativa/terapia , Adolescente , Criança , Feminino , Humanos , Masculino , Estudos Retrospectivos , Resultado do Tratamento
6.
Prog Urol ; 25(11): 655-64, 2015 Sep.
Artigo em Francês | MEDLINE | ID: mdl-26049263

RESUMO

OBJECTIVE: To evaluate outcomes and long-term sexual quality of life after hypospadias surgery. Seventeen-years-old patients operated for a posterior hypospadias in childhood were included in a transversal study. PATIENTS AND METHODS: Fifteen patients, among the forty children treated since 1997, accepted to participate. These young men (mean age at the first surgery was 27.9±20months) were clinically reviewed and responded to questionnaires (EUROQOL 5, IIEF15 and non-validated questionnaire). This study arises about 8.4±5years after the last visit in paediatric department. RESULTS: Mean study age was 21.2±4.7years. One third of patients thought that global quality of life was distorted. Although 33% of the patients had erectile dysfunction, 80% were satisfied with their sexual quality of life. The most important complains were relative to the penile appearance. Number of procedures was not predictive of patient's satisfaction about penile function and appearance. Thirty-three percents of the patients would have been satisfied to have psychological and medical support. They would be interested in having contact with patients who suffered from the same congenital abnormality. CONCLUSION: These patients had functional and esthetical disturbances. This visit leads to a specific visit in 20% cases. In this study, medical follow-up does not seem to be counselling and had to be adapted. Adequate follow-up transition between paediatric and adult departments especially during adolescence seems to be necessary.


Assuntos
Hipospadia/cirurgia , Qualidade de Vida , Comportamento Sexual , Estudos Transversais , Humanos , Masculino , Estudos Retrospectivos , Inquéritos e Questionários , Fatores de Tempo , Resultado do Tratamento , Procedimentos Cirúrgicos Urológicos Masculinos , Adulto Jovem
7.
Prog Urol ; 22(8): 462-6, 2012 Jul.
Artigo em Francês | MEDLINE | ID: mdl-22732581

RESUMO

OBJECTIVES: The aim of this study was to assess the feasibility, efficacy and tolerance of external urethral sphincter vaporization in saline for treating detrusor-sphincter dyssynergia. MATERIAL: Between 2009 and 2011 a monocentric prospective study of ten men mean age 58±9 years with neurogenic detrusor-sphincter dyssynergia was carried out. Preoperative evaluation included kidney ultrasound scan, 24-hour creatinine clearance, urodynamics, retrograde and voiding urethrocystography and an at least 6 months temporary stent sphincterotomy. Postoperative assessment was composed of an ultrasound scan post-void residual volume measurement when the urethral catheter were removed and 1 year after the procedure, a retrograde and voiding urethrocystography at 3 months and a flexible cystoscopy at 1 year. RESULTS: At the catheter removal, eight patients emptied their bladder at completion, a supra-pubic catheter was temporary left in one case and a patient had a permanent urinary retention. For a mean follow-up of 22±11 months, eight patients emptied their bladder at completion and two had a complete urinary retention related to a detrusor underactivity. An orchitis occurred in one case 1 month after the procedure and an urethral stricture in four cases in 12.75±5.68 months on average. CONCLUSION: External urethral sphincter vaporisation saline was feasible and efficient for treating detrusor-sphincter dyssynergia but was associated with a high risk of urethral stricture.


Assuntos
Eletrocirurgia/métodos , Cloreto de Sódio/administração & dosagem , Esfinterotomia Endoscópica/métodos , Retenção Urinária/terapia , Estudos de Viabilidade , Seguimentos , Humanos , Masculino , Pessoa de Meia-Idade , Doenças do Sistema Nervoso/complicações , Estudos Prospectivos , Esfinterotomia Endoscópica/efeitos adversos , Estreitamento Uretral/etiologia , Volatilização
10.
J Bone Miner Res ; 8(5): 589-95, 1993 May.
Artigo em Inglês | MEDLINE | ID: mdl-8511986

RESUMO

Three stages of osteogenic differentiation can be identified in in vivo diffusion chamber cultures (DCC) of unselected marrow cells, namely, proliferation, differentiation, and maturation (mineralization). These stages were characterized correlatively by in situ differential cell counts, alkaline phosphatase activity, and mineral accumulation. In the present study, the ultrastructure of marrow cell DCC was examined after incubation for 3-21 days. Features characteristic of osteoblastic and chondroblastic differentiation were first noted in 12 day DCC. Sites of osteoblastic differentiation showed cell-cell contacts associated with an increased cell density. The osteoblastic cells had long processes and were embedded in matrix with prominent fiber bundles reminiscent of collagen type I. The chondroblastic cells appeared solitary in areas of lesser cell density. By contrast to the long osteoblastic cell processes, they had short plasmalemmal projections and the matrix surrounding them contained single, thin, short fibers reminiscent of collagen type II, as well as proteoglycan granules. Both cell types showed prominent cytoskeletal elements, rough endoplasmic reticulum, and Golgi. One finding, previously unnoted in differentiating osteogenic cells, was mitochondria with condensed cristae that represent an increased rate of energy metabolism. These mitochondria were particularly abundant in the differentiation stage and declined as the cultures matured. These findings, together with previous reports in the epiphyseal growth plate, suggest that mineralization is associated with an optimal level of energy metabolism rather than extreme hypo- or hyperoxia. The set of ultrastructural parameters defined here in the marrow cell DCC may serve as useful markers for cells undergoing osteogenic differentiation.


Assuntos
Células da Medula Óssea , Osteoblastos/citologia , Osteogênese/fisiologia , Animais , Cartilagem/citologia , Cartilagem/ultraestrutura , Contagem de Células , Diferenciação Celular , Divisão Celular , Células Cultivadas , Cultura em Câmaras de Difusão , Feminino , Masculino , Microscopia Eletrônica , Mitocôndrias/ultraestrutura , Organoides/ultraestrutura , Osteoblastos/ultraestrutura , Coelhos
11.
Endocrinology ; 125(2): 581-5, 1989 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-2568924

RESUMO

In the male rat, GH secretion is characterized by high amplitude pulses that appear at regular intervals of 3-4 h, with low basal levels between such pulses. In the female, the pulses are irregular and more frequent, with lower amplitudes, while basal secretion is higher. The present study was designed to exclude the indirect effects of sex steroids on the pituitary, enabling investigation of the direct effects of sex steroids on the pituitary. Rats were gonadectomized at 22 days of age, and 12 days later their anterior pituitaries were trypsinized for cell dispersion. Testosterone (T) or 17 beta-estradiol (E2), 5 nM, was added to the medium for 6 days, and subsequently, GRF or somatostatin was added for 4 h. In a perifusion system, the male-derived cell response to GRF was augmented after pretreatment with T, but not with E2. The female-derived cell response to GRF was augmented by E2, but not by T. T increased the sensitivity of the cells to GRF from 3.0-0.03 nM and increased the maximal potency of GH secretion 3-fold. E2 had no significant effect on the sensitivity, but lowered the potency. Somatostatin (1 nM) inhibited GH secretion by 44% in T-treated cells. In E2-treated cells, somatostatin was ineffective. GRF increased the total amount of GH (medium plus cells) in both T- and E2-treated cells, but not in control pituitary cells. It is suggested that T has direct effects on the male somatotroph. By increasing the pituitary cell responses to GRF and somatostatin, T contributes to the high amplitude peak/low baseline pattern of the male. By decreasing the pituitary cell responses to GRF and somatostatin, E2 contributes to the low amplitude peak/high baseline pattern of the female.


Assuntos
Estradiol/farmacologia , Hormônio Liberador de Hormônio do Crescimento/farmacologia , Hipófise/citologia , Somatostatina/farmacologia , Testosterona/farmacologia , Animais , Células Cultivadas , Feminino , Masculino , Orquiectomia , Ovariectomia , Hipófise/efeitos dos fármacos , Hipófise/fisiologia , Ratos , Ratos Endogâmicos
12.
J Clin Endocrinol Metab ; 81(8): 2836-40, 1996 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-8768839

RESUMO

Calcitriol-resistant rickets (CRR) is an autosomal recessive disease caused by mutated nonfunctioning vitamin D receptors. Because of their lack of biological activity of vitamin D, CRR patients were studied to investigate whether vitamin D modulates the effects of PTH on renal tubules. Five patients with CRR and three controls were studied. After normalization of serum calcium, phosphorus, and PTH levels by oral and i.v. administration of calcium, exogenous PTH-(1-34) was infused, and timed fractions of urine were collected for measurements of cAMP, sodium, potassium, phosphorus, calcium, and bicarbonate. Serum 1,25-dihydroxyvitamin D3 [1,25-(OH)2D3] was measured before and after PTH-(1-34) infusion. Urinary cAMP and fractional excretion of potassium, phosphorus, and bicarbonate were similar in CRR patients and controls, as was the rise in the serum 1,25-(OH)2D3 concentration after PTH-(1-34) infusion. However, urinary excretion of calcium and sodium decreased after PTH-(1-34) infusion in controls, but not in CRR patients. These results suggest a selective modulation by vitamin D of the renal response to PTH; 1,25-(OH)2D3 facilitates PTH-induced calcium and sodium reabsorption, but does not influence PTH-induced cAMP excretion; phosphorus, potassium, and bicarbonate tubular transport, or 1 alpha-hydroxylation of 25-hydroxyvitamin D3.


Assuntos
Calcitriol/uso terapêutico , Rim/efeitos dos fármacos , Proteína Relacionada ao Hormônio Paratireóideo , Fragmentos de Peptídeos/farmacologia , Proteínas/farmacologia , Raquitismo/fisiopatologia , Vitamina D/farmacologia , Cálcio/urina , Criança , Pré-Escolar , AMP Cíclico/urina , Resistência a Medicamentos , Feminino , Humanos , Masculino , Natriurese/efeitos dos fármacos , Raquitismo/sangue , Raquitismo/urina
13.
J Clin Endocrinol Metab ; 71(4): 937-43, 1990 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-2169482

RESUMO

Vitamin D-dependent rickets type II (VDDR-II; hereditary resistance to 1,25-dihydroxyvitamin D3 [1,25(OH)2D3]), an autosomal recessive genetic disease that results from a failure to respond to 1,25-(OH)2D3, is characterized by severe rickets, hypocalcemia, growth retardation, and high prevalence of alopecia. We used amniotic fluid cells in the 17th week of gestation to detect VDDR-II in fetuses at risk for the defect. First, we demonstrated in cells obtained from 15 control pregnancies the presence of a specific high affinity 1,25-(OH)2D3 receptor (Kd = 0.3 x 10(-11) mol/L; maximal number of binding sites, 6.1 fmol/mg protein) and 1,25-(OH)2D3-induced 25-hydroxyvitamin D3-24-hydroxylase activity (up to 30-fold increase). Amniotic fluid cells from a woman who had already given birth to a child with VDDR-II contained receptors that bound [3H]1,25-(OH)2D3 normally and responded to 1,25-(OH)2D3 stimulation with a 10-fold increase in 24-hydroxylase activity. The fetus was, therefore, judged unaffected, and a normal baby girl was born. At the age of 16 months she did not demonstrate clinical or biochemical features of VDDR-II. Amniotic fluid cells from another mother of a child with VDDR-II were unable to bind [3H]1,25-(OH)2D3, and the hormone failed to stimulate 24-hydroxylase activity. VDDR-II in this fetus was confirmed after termination of pregnancy by the total inability of 1,25-(OH)2D3 to stimulate 24-hydroxylase activity in tissue explants and cell cultures prepared from the fetus's kidney and skin. In contrast, tissues from dead control fetuses responded to stimulation by 1,25-(OH)2D3 with a 3- to 10-fold increase in 24-hydroxylase activity. Fetal kidney and skin explants and cell cultures also synthesized a [3H]1,25-(OH)2D3-like metabolite from [3H]25-OHD3 as early as the 17th week of gestation. 1,25-(OH)2D3 (10 nM) decreased the in vitro synthesis of the [3H]1,25-(OH)2D3-like metabolite in tissues from dead control fetuses, but not from the affected fetus. Thus, human fetuses at midgestation already have the regulatory mechanisms responsive to 1,25-(OH)2D3 present postnatally. The prenatal diagnosis of VDDR-II is now possible and is indicated in a high risk family.


Assuntos
Líquido Amniótico/citologia , Calcitriol/farmacologia , Doenças Fetais/diagnóstico , Hipofosfatemia Familiar/diagnóstico , Rim/metabolismo , Diagnóstico Pré-Natal , Receptores de Esteroides/efeitos dos fármacos , Pele/metabolismo , Adulto , Calcitriol/metabolismo , Células Cultivadas/efeitos dos fármacos , Indução Enzimática/efeitos dos fármacos , Feminino , Doenças Fetais/tratamento farmacológico , Doenças Fetais/metabolismo , Fibroblastos/efeitos dos fármacos , Fibroblastos/enzimologia , Humanos , Hipofosfatemia Familiar/metabolismo , Oxigenases de Função Mista/biossíntese , Gravidez , Segundo Trimestre da Gravidez , Receptores de Calcitriol , Receptores de Esteroides/metabolismo
14.
J Clin Endocrinol Metab ; 82(2): 686-9, 1997 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-9024277

RESUMO

Vasopressin V2 receptors, expressed from an x-chromosomal gene, are involved in antidiuresis, but also in release of coagulation factor VIII and von Willebrand factor (vWF). The present study describes autosomal recessive nephrogenic diabetes insipidus (NDI) in a large cluster of patients in Israel's Lower-Galilee. Evidence for an intact V2 receptor was concluded by their normal increase in factor VIII and vWF after desmopressin infusion. Thus, in these patients a defect in the pathway beyond the V2 receptor was suspected. The recent cloning of the human Aquaporin-2 gene enabled us to test this gene as a candidate for such a postreceptor defect. Direct sequencing of the Aquaporin-2 gene revealed a G298T substitution causing a Gly100Stop nonsense mutation in the third transmembrane region. Because this putative disease-causing mutation was identified in index patients of different families, we suggest that all patients are descendants of a common ancestor. Thus, this new entity is characterized by an autosomal recessive NDI. The differential response of clotting factors and urine osmolality to desmopressin may provide a simple tool for clinical diagnosis of a V2-postreceptor defect. The early stop-codon of Aquaporin-2 results in complete resistance to vasopressin antidiuretic effect.


Assuntos
Aquaporinas , Diabetes Insípido Nefrogênico/genética , Genes Recessivos , Canais Iônicos/genética , Mutação , Aquaporina 2 , Aquaporina 6 , Desamino Arginina Vasopressina , Fator VIII/análise , Humanos , Israel , Linhagem , Fator de von Willebrand/análise
15.
J Clin Endocrinol Metab ; 72(1): 229-35, 1991 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-1986023

RESUMO

We characterized the bone disease of transilial biopsy specimens from children with hereditary hypophosphatemic rickets with hypercalciuria (HHRH) and genetically related asymptomatic hypercalciuric subjects. All HHRH patients showed irregular mineralization fronts, markedly elevated osteoid surface and seam width, increased number of osteoid lamellae, and prolonged mineralization lag time. These findings are consistent with a mineralization defect and indicate unambiguously that the bone disease in HHRH is osteomalacia. The only abnormality seen in the asymptomatic hypercalciuric subjects was slightly extended osteoid surface. Parametric and nonparametric statistical analyses performed on a pooled sample of HHRH patients and asymptomatic hypercalciuric subjects revealed a very high inverse correlation and a tight linear relationship between serum phosphorus and osteoid parameters. Serum 1,25-dihydroxyvitamin D, which is low in other forms of hereditary hypophosphatemia and osteomalacia, is elevated in HHRH and correlated positively with osteoid parameters and the mineralization lag time. Serum alkaline phosphatase showed similar relationships. These results as well as the clinical, biochemical, and radiological remission of bone disease consequent to phosphate therapy strongly suggest that in HHRH 1) hypophosphatemia alone is sufficient to cause osteomalacia; and 2) the elevation of 1,25-dihydroxyvitamin D reflects the degree of the primary renal phosphate leak, but is not involved in the pathogenesis of the bone disease.


Assuntos
Osso e Ossos/patologia , Cálcio/urina , Osteomalacia/patologia , Fosfatos/sangue , Raquitismo/genética , Absorção , Adolescente , Fosfatase Alcalina/sangue , Calcificação Fisiológica , Calcitriol/sangue , Cálcio/sangue , Criança , Pré-Escolar , Feminino , Taxa de Filtração Glomerular , Humanos , Túbulos Renais/metabolismo , Masculino , Osteoblastos/patologia , Osteoclastos/patologia , Osteomalacia/complicações , Osteomalacia/fisiopatologia , Fósforo/sangue , Fósforo/metabolismo , Raquitismo/complicações , Raquitismo/patologia , Síndrome
16.
Am J Med Genet ; 72(4): 409-14, 1997 Nov 12.
Artigo em Inglês | MEDLINE | ID: mdl-9375722

RESUMO

Nineteen cases of duplication of segments of the long arm of chromosome X have been published in 13 males and in 6 females. We report an additional case of a male with growth and mental retardation, growth hormone deficiency, compensated primary hypothyroidism, distinctive anomalies of the face, hypoplastic genitalia, and hypotonia in whom inverted duplication of a segment in the long arm of X chromosome was diagnosed, 46,Y, dup (X)(q21.2q13.3), and mosaicism was demonstrated in his mother's X chromosome. The rearranged segment was diagnosed utilizing high resolution G-band technique and FISH studies, using chromosome X total chromosome probe and DNA XIST probe. This appears to be the first report of a patient with duplication of Xq and hypothyroidism.


Assuntos
Aberrações Cromossômicas , Cromossomo X , Pré-Escolar , Deficiências do Desenvolvimento/complicações , Deficiências do Desenvolvimento/genética , Fácies , Genitália Masculina/anormalidades , Humanos , Hibridização in Situ Fluorescente , Deficiência Intelectual/complicações , Deficiência Intelectual/genética , Masculino , Síndrome
17.
Eur J Endocrinol ; 138(1): 59-62, 1998 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-9461317

RESUMO

The mechanism of growth retardation in Turner's syndrome has not been resolved. It is often referred to as a bone dysplasia, although endocrine derangement has not been ruled out. The present study was undertaken to evaluate the maturation of individual bones of the hand and wrist in girls with Turner's syndrome and thereby obtain information which may aid in elaborating the possible mechanism of the growth retardation in girls with Turner's syndrome. Hand and wrist films of 24 girls with Turner's syndrome, 11 normal girls with short stature and 23 normal controls were evaluated, using the references of Greulich and Pyle. Each bone or epiphysis was given an individual 'age'. During childhood the Turner patients showed the greatest delay in bone age of the phalangeal bones while the least delayed were the radius and ulna (long bones) and metacarpals. The carpal bones showed intermediate retardation. This pattern and extent of maturational retardation was clearly different from that of the short stature normal group, who showed uniform retardation of all bones. During adolescence, the phalangeal bones were further retarded and the carpal bones showed a moderate retardation. The unique profile of bone maturation in Turner's syndrome suggests an insult to chondroplasia, which may be related to estrogen deficiency or to an as yet undetermined endocrine or paracrine derangement.


Assuntos
Desenvolvimento Ósseo/fisiologia , Síndrome de Turner/fisiopatologia , Adolescente/fisiologia , Envelhecimento/fisiologia , Estatura , Criança , Pré-Escolar , Feminino , Mãos , Humanos , Valores de Referência , Análise de Regressão , Punho
18.
J Pediatr Endocrinol Metab ; 10(3): 283-6, 1997.
Artigo em Inglês | MEDLINE | ID: mdl-9388819

RESUMO

Transient hyperglycemia during acute illness may represent the earliest clinical sign of impaired beta cell function. This study sought to characterize the clinical presentation of patients with stress hyperglycemia and to determine the prevalence of immunologic and endocrinologic markers associated with prediabetes. Thirty-six children were studied. They were referred to us for routine evaluation after an episode of hyperglycemia during severe intercurrent illness. Immunologic markers (insulin autoantibodies and islet cell autoantibodies) and intravenous glucose tolerance test for evaluation of first phase insulin secretion rate were performed in all participants. Islet cell autoantibodies were negative in all patients. In eight patients, the first phase insulin response was below the first percentile (46 microU/ml) at the first determination. Insulin autoantibodies were positive in another three children (> 60 nU/ml). Twelve to sixteen months later, all children were re-evaluated and all had normal results. None of the patients developed diabetes during the study (mean 3.2 years). Our data support the idea that episodes of hyperglycemia during severe illness without additional risk factors are a minimal risk factor, if any, for future development of IDDM.


Assuntos
Diabetes Mellitus Tipo 1/diagnóstico , Hiperglicemia/etiologia , Estresse Fisiológico/complicações , Doença Aguda , Adolescente , Autoanticorpos/sangue , Biomarcadores , Criança , Pré-Escolar , Feminino , Gastroenterite/complicações , Teste de Tolerância a Glucose , Humanos , Lactente , Insulina/imunologia , Insulina/metabolismo , Secreção de Insulina , Ilhotas Pancreáticas/imunologia , Masculino , Fatores de Risco , Convulsões Febris/complicações
19.
Acta Gastroenterol Latinoam ; 18(4): 231-48, 1988.
Artigo em Espanhol | MEDLINE | ID: mdl-3255219

RESUMO

Dysplasia cancer sequence has not been determined in gastric cancer yet. Dysplastic changes are not frequent. Gastric cancer generally develops in areas of chronic atrophic gastritis. This chronic atrophic gastritis (CAG) is often associated with intestinal metaplasia (IM). IM has been classified in three types, according to morphologic patterns, differentiation and mucins production. We reviewed 55 gastrectomy specimens and 278 endoscopic biopsies. In order to determine an histological high-risk group, we chose cases with preneoplastic conditions (60 CAG, 10 biopsies of gastric remnants, 3 flat adenomas and 55 gastrectomies by cancer or ulcer). We also included 12 hyperplastic polyps because they may contain foci of intestinal metaplasia. Mucin techniques (PAS-ALCIAN BLUE Ph 2.5 and HID-A.B) were used in all cases that showed extensive intestinal metaplasia. In addition, we used immunohistochemistry techniques to detect CEA. Dysplasia was found only in flat adenomas (3 cases), early gastric cancer (1 case) and advanced cancer (3 cases). We considered a preneoplastic lesion only to moderate or severe dysplasia. Hyperplastic regenerative pathology is considered a reversible condition. Therefore, it should be differentiated from dysplasia. We found that IM type III (sulfomucin predominance) is the most related to carcinoma, particularly to the intestinal type. CEA antigen is poorly specific in detecting high-risk lesions because it was seen in regenerative pathology and in gastric cancer too. Relationship of dysplasia and carcinoma, and/or neoplastic polyps was similar to other series. Concerning to follow-up items, we agree with the concepts proposed by the Japanese Research Society for Gastric Cancer.


Assuntos
Intestinos/patologia , Lesões Pré-Cancerosas/patologia , Neoplasias Gástricas/patologia , Estômago/patologia , Humanos , Hiperplasia , Metaplasia , Estudos Retrospectivos
20.
Arch Pediatr ; 20(4): 364-8, 2013 Apr.
Artigo em Francês | MEDLINE | ID: mdl-23433663

RESUMO

INTRODUCTION: Acute scrotal pain is a true surgical emergency as patients presenting with acute scrotal pain may suffer from spermatic cord torsion and gonadal loss. We assessed whether the type of consultation (first consultation in our center or secondary transfer from a peripheral hospital or primary care practice), distance from home to hospital, and duration of pain had an impact on the orchiectomy rate. PATIENTS AND METHODS: We retrospectively reviewed the medical records of all patients under 15years of age suffering from acute scrotal pain who had surgical exploration between January 2007 and January 2010 in our center. Patient demographics, transfer status, time to consultation in our center, time to surgery, operative findings and clinical outcome were reviewed. RESULTS: Of the 76 patients with acute scrotal pain in whom surgical exploration was performed, 59 had acute spermatic cord torsion, 16 had torsion of the testicular appendage, and 1 had orchitis. In patients with acute spermatic cord torsion, the median age was 13 years (range: 0.18-14.97). In patients with acute spermatic cord torsion, 32 came straight to our center (direct admission group, 54.2%), and 27 (45.8%) came after a prior consultation out of side the center (transfer group). The median journey was 19km (range: 2.5-113) in the direct admission group and 44km (range: 2.5-393) in the transfer group (P=0.0072). The median time between pain onset and consultation at our center was 4.3h (range: 0.5-48) in the direct admission group, and 11h (range: 2-48) in the transfer group (P=0.6139). The median time between admission at our center and surgery was 2.5h, with no difference between the 2 groups (P=0.8789). The orchiectomy rate was 25% in the direct admission group and 14.8% in the transfer group (P=0.5177). In children who underwent orchiectomy, the duration of pain was consistently over 6h. The duration of pain was greater in patients with orchiectomy (12h [range: 1-72]) than in patients without orchiectomy (12h [range: 6-48]; P=0.0001). CONCLUSION: In this study, the orchiectomy rate depended on the duration of pain but not on transfer status. Acute scrotal pain must lead to surgical exploration as soon as possible, requiring close collaboration between peripheral hospitals, primary care physicians, and referral centers.


Assuntos
Orquiectomia , Torção do Cordão Espermático/cirurgia , Adolescente , Criança , Pré-Escolar , Tratamento de Emergência , Humanos , Lactente , Masculino , Estudos Retrospectivos , Fatores de Tempo
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