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1.
Surg Endosc ; 35(12): 6466-6471, 2021 12.
Artigo em Inglês | MEDLINE | ID: mdl-33140154

RESUMO

OBJECTIVE: To assess the 10-year outcomes after sleeve gastrectomy (SG). Primary end-points were the long-term weight loss and the need for conversion and one of the secondary end-points was the incidence of gastroesophageal reflux (GERD). MATERIALS AND METHODS: Between 2006 and 2008, 40 consecutive patients had a primary SG. A retrospective analysis of our database and telephone interview of patients who defaulted clinic follow-up was conducted. Success of surgery was defined as percentage of excess weight loss (%EWL) > 50% and no need for conversion. RESULTS: Thirty-four patients (85%) achieved a 10-year follow-up. There were 11 men and 23 women with a mean preoperative body mass index (BMI) of 44 ± 4 kg/m2 and a mean age of 42 ± 8 years. Optimal weight loss was reached after a follow-up of 12 months: the mean BMI was 31 ± 5 kg/m2 and %EWL 70 ± 21%. A progressive weight regain was observed over time. With a median follow-up of 11 years (range 7-12), the mean BMI and %EWL were respectively 36 ± 8 kg/m2 (p < 0.005) and 42 ± 37% (p < 0.001). With a median delay of 9 years (range 7-9), 6 patients (18%) were converted to gastric bypass because of weight regain. On total, SG was successful only in 14 patients (41%). Success rate was particularly high in patients who had a 1-year %EWL > 75%: 10/12 (83%) vs. 4/22 (17%) (p < 0.001). Those 12 patients were only characterized by a lower preoperative BMI: 41 ± 2 vs. 45 ± 4 (p < 0.002). Besides, 22 patients (65%) had long-term GERD requiring medical treatment: the incidence of de novo GERD was 41% (6/14) and of persisting GERD 80% (16/20). CONCLUSIONS: Our 10-year success rate after SG was 41% and the incidence of GERD 65%. SG should preferably be proposed to selected patients. Patients with low preoperative BMI and without preoperative symptoms of GERD appeared as the best candidates for SG.


Assuntos
Derivação Gástrica , Laparoscopia , Obesidade Mórbida , Adulto , Estudos de Coortes , Feminino , Gastrectomia , Humanos , Masculino , Pessoa de Meia-Idade , Obesidade Mórbida/epidemiologia , Obesidade Mórbida/cirurgia , Estudos Retrospectivos , Resultado do Tratamento
2.
Acta Chir Belg ; 118(2): 94-98, 2018 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-28927340

RESUMO

OBJECTIVES: Postoperative complications after Laparoscopic sleeve gastrectomy (LSG) can dramatically compromise patient's outcome. The aim of this study is to analyze the per- and postoperative short-term outcomes after LSG and to assess predictive risk factors of complications. METHODS: The study group consisted of 790 patients (610 women and 180 men) who underwent LSG In 2014. All interventions were performed by 18 experienced surgeons members of the Club Coelio. Data about preoperative work-up, surgical techniques, 30-days postoperative morbidity and mortality were collected. Endpoints were perioperative morbidity and mortality and assessment of potential risk factors for complications. RESULTS: Mean age and body mass index were respectively 39 years and 41.5kg/m2. Ninety-one patients (11.5%) had previous bariatric surgery. Morbidity rate was 4.7% (37/790) including 16 leaks (2.0%) and 9 bleedings (1.1%) and no deaths. Risk factors for leak were: previous adjustable banding (p = .0051), with no difference between removal of the banding and LSG in 1 or 2 steps, and type of endostapler (p = .0129). CONCLUSIONS: Leakage after Sleeve was rare but still observed even in experienced hands. The leak rate is particularly high when LSG is performed after adjustable gastric banding removal.


Assuntos
Gastroplastia/efeitos adversos , Laparoscopia/efeitos adversos , Obesidade Mórbida/cirurgia , Complicações Pós-Operatórias/epidemiologia , Adolescente , Adulto , Idoso , Bélgica/epidemiologia , Feminino , Gastroplastia/métodos , Humanos , Masculino , Pessoa de Meia-Idade , Morbidade/tendências , Estudos Retrospectivos , Fatores de Risco , Taxa de Sobrevida/tendências , Adulto Jovem
3.
Surg Endosc ; 31(9): 3656-3663, 2017 09.
Artigo em Inglês | MEDLINE | ID: mdl-28078462

RESUMO

AIM: To assess the long-term incidence and predictive factors for recurrence after laparoscopic ventral hernia repair using a bridging technique. METHODS: The study group consisted of 213 consecutive patients operated by laparoscopy for primary ventral (n = 158) or incisional hernia (n = 55) between 2001 and 2014. Patients had a repair without fascia closure by intra-peritoneal onlay placement of a Parietex® composite mesh centred on the defect with an overlap of at least 3 cm. Clinical outcome was assessed by a combination of office consultation, patient's electronic medical file review and telephone interview. RESULTS: There were 144 men and 69 women with a mean age of 55 ± 12 years and a BMI of 32 ± 6. With a mean follow-up of 69 ± 44 months, a recurrent hernia was noted in 16 patients (7.5%). Univariate analysis showed a statistically significant higher recurrence rate in the following conditions: incisional hernia (15%), BMI ≥ 35 (21%), defect width >4 cm (27%), defect area >20 cm2 (27%), mesh overlap <5 cm (32%) and ratio of mesh area to defect area (M/D ratio) ≤12 (48%). Multivariate logistic analysis revealed that M/D ratio was the only independent predictive factor for recurrence (coefficient -0.79, OR 0.46, p < 0.002). With a M/D ratio ≤8, between 9 and 12, between 13 and 16, and ≥17, the recurrence rate was, respectively, 70, 35, 9 and 0% (p < 0.001). CONCLUSIONS: In laparoscopic repair of ventral hernia using a bridging technique, an overlap of at least 5 cm is not all that is required to prevent hernia recurrence. The M/D ratio is the most important predictive factor for recurrence. A ratio of 13 appears as the threshold under which that technique cannot be recommended and 16 as the threshold over which the risk of recurrence is virtually nil. If a satisfactory M/D ratio cannot be achieved, other surgical repair should be proposed to the patient.


Assuntos
Hérnia Ventral/cirurgia , Herniorrafia/métodos , Hérnia Incisional/cirurgia , Laparoscopia/métodos , Adulto , Idoso , Feminino , Seguimentos , Herniorrafia/instrumentação , Humanos , Laparoscopia/instrumentação , Modelos Logísticos , Masculino , Pessoa de Meia-Idade , Análise Multivariada , Recidiva , Estudos Retrospectivos , Fatores de Risco , Telas Cirúrgicas , Resultado do Tratamento
4.
Surg Endosc ; 30(10): 4539-43, 2016 10.
Artigo em Inglês | MEDLINE | ID: mdl-26895902

RESUMO

AIM: To access the incidence and predictive factors of incisional hernia after single-incision laparoscopic cholecystectomy (SILC). METHODS: Eighty-two consecutive patients operated on for uncomplicated cholelithiasis between 2009 and 2013 were eligible for the study. Clinical outcome was assessed by a combination of case notes review, office consultation and telephone interview. Long-term incisional hernia rate was the major outcome of the study. Secondary outcome was the evaluation of predictive factors. Univariate and multivariate statistical analyses were performed using the following variables: age, gender, ASA score, BMI, risk, or comorbidity factors and surgical site infection. RESULTS: Six patients (7 %) were lost to follow-up after the 1-month office visit and excluded. The study group consisted of 16 men and 60 women with a median age of 42 years (range 18-69) and a BMI of 25 (range 19-34). Eight patients had risk or comorbidity factors, 46 were classified ASA I, and 30 ASA II. Early postoperative course was uneventful in all cases but two patients developed a superficial wound abscess after hospital discharge. With a median follow-up of 44 months (range 12-72), incisional hernia was noted in six patients (7.9 %). Multivariate logistic analysis revealed that age (OR 1.08, 95 % CI 1.00-1.16, p < 0.038) and BMI (OR 1.37, 95 % CI 1.03-1.82, p < 0.029) were independent predictive factors of developing an incisional hernia. The incidence of hernia was, respectively, 15 % in patients with an age ≥ 50 and 33 % in patients with a BMI ≥ 30. CONCLUSION: After SILC, we noted an incisional hernia rate of 8 %. To decrease the risk of developing that specific complication, SILC should only be proposed to young and non-obese patients.


Assuntos
Colecistectomia Laparoscópica/métodos , Colelitíase/cirurgia , Hérnia Incisional/epidemiologia , Obesidade/epidemiologia , Adolescente , Adulto , Fatores Etários , Idoso , Índice de Massa Corporal , Feminino , Humanos , Incidência , Modelos Logísticos , Masculino , Pessoa de Meia-Idade , Análise Multivariada , Estudos Retrospectivos , Fatores de Risco , Infecção da Ferida Cirúrgica/epidemiologia , Adulto Jovem
5.
Acta Clin Belg ; 69(6): 446-50, 2014 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-25224542

RESUMO

Immunoglobulin G4-related sclerosing disease (IgG4-RSD) represents a recently identified inflammatory disorder in which infiltration of IgG4 plasma cells causes fibrosis in organs. While IgG4-RSD is well documented in the pancreas and other organs, it is poorly characterized in the thyroid gland. We report a case of a 48-year-old female with a fibrotic thyroid mass associated with a retroperitoneal fibrosis. Diagnosed early as Riedel disease, the high serum IgG4, immunohistopathology and decreased fibrosis with corticosteroid therapy, finally confirm for the first time, the origin of IgG4-RSD fibrosis of the thyroid.


Assuntos
Imunoglobulina G/fisiologia , Fibrose Retroperitoneal/diagnóstico , Fibrose Retroperitoneal/etiologia , Glândula Tireoide/patologia , Feminino , Humanos , Pessoa de Meia-Idade , Esclerose
6.
Acta Chir Belg ; 113(2): 96-102, 2013.
Artigo em Inglês | MEDLINE | ID: mdl-23741927

RESUMO

BACKGROUND: The aim of that study is to assess the surgical outcomes after laparoscopic repair of primary ventral hernias (PVH). METHODS: The series consisted of 118 consecutive patients presenting with PVH (13 epigastric and 105 umbilical hernias) operated between 2001 and 2010 by laparoscopy. Surgical repair consisted in intraperitoneal placement of a Parietex composite mesh centred on the defect with a minimum overlapping of 3 cm. The mesh was secured to the abdominal wall with a double crown of helical tacks alone or by an association of transfascial sutures and tacks. Patients' data were recorded prospectively. All patients were checked during office visit one month and one year after surgery and thereafter periodically evaluated by phone call. RESULTS: There were 32 women and 86 men with a mean age of 53 +/- 12 years and a body mass index (BMI) of 32 +/- 5. The median width of the defect was 2 cm (range : 1-6 cm). There was no conversion to open surgery. The mean operative time was 44 +/- 18 min. and the hospital stay 2 +/- 1 days. We noted 7 (6%) postoperative complications: 6 seromas and 1 hypodermitis. One month after surgery, no umbilical skin necrosis was observed and 102 patients (84%) considered the cosmetic result as excellent. With a mean follow-up of 66 +/- 37 months, no complication related to the use of the mesh was recorded and the recurrence rate was 3% (4/118). Predictive factors of recurrence were: BMI > or = 35 (14% (4/29), p < 0.001), mesh overlapping < 5 cm (20% (3/15), p < 0.002) and mesh fixation by tacks alone (8% (4/48), p < 0.05). CONCLUSION: Laparoscopic PVH repair is associated with very low morbidity, excellent cosmetic result and a recurrence rate of 3%. Improvement in surgical repair technique with systematic use of transfascial sutures and mesh overlapping > or = 5 cm should decrease the recurrence rate especially in obese patients.


Assuntos
Hérnia Ventral/cirurgia , Laparoscopia , Adulto , Idoso , Índice de Massa Corporal , Estudos de Coortes , Feminino , Hérnia Ventral/diagnóstico , Hérnia Ventral/etiologia , Humanos , Tempo de Internação , Masculino , Pessoa de Meia-Idade , Recidiva , Telas Cirúrgicas , Técnicas de Sutura , Resultado do Tratamento
7.
Acta Chir Belg ; 113(6): 391-6, 2013.
Artigo em Inglês | MEDLINE | ID: mdl-24494464

RESUMO

AIM: To compare surgical outcomes of patients presenting with uncomplicated cholelithiasis and operated by single incision (SILC) or by conventional laparoscopic cholecystectomy (CLC). METHODS: The series concerned 58 consecutive patients operated between October 2008 and October 2009. There were 11 men and 47 women with a mean age of 47 years and a BMI of 29. Six patients had a past surgical history with a midline incision. The main parameters analysed were duration of operation, morbidity, postoperative pain, return to normal activities and aesthetic result. One month and one year after surgery, the cosmetic result was assessed on a visual analogue scale (VAS), a score between 9 and 10 was considered as an excellent cosmetic result. RESULTS: A SILC was performed in 26 and a CLC in 32 patients. Patients in the SILC group were characterised by a lower BMI : 25 versus 32 (p <0.001) and by the absence of previous midline incision: 0/26 (0%) versus 6/32 (19%) (p <0.028). Outcomes were similar between groups except the aesthetic result. Multivariate statistical analysis revealed that the percentage of excellent cosmetic result was higher in SILC than in CLC group : respectively 73% (19/26) vs. 28% (9/32) one month postoperatively (OR : 5.3, 95% CI: 1-23, p <0.03) and 92% (22/24) versus 55% (17/31) one year postoperatively (OR : 6.9, 95% CI : 1-46, p < 0.04). CONCLUSIONS: Our study demonstrates that SILC is a feasible and safe procedure in a selected population. Compared to CLC, the only obvious benefit is a better cosmetic result that is still observed one year after surgery.


Assuntos
Colecistectomia Laparoscópica/métodos , Colelitíase/cirurgia , Adulto , Idoso , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Medição da Dor , Dor Pós-Operatória/epidemiologia , Estudos Prospectivos , Resultado do Tratamento , Adulto Jovem
8.
J Visc Surg ; 149(6): 417-20, 2012 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-23153771

RESUMO

AIM: To assess the cosmetic outcome after single umbilical incision laparoscopic cholecystectomies (SILC) performed by the surgeons of the Coelio Club. PATIENTS AND METHODS: Multicenter prospective study concerning 105 consecutive patients operated between December 2009 and February 2011 by SILC for non-complicated gallstones. Perioperative and postoperative parameters were analyzed with a systematic follow-up at 1 and 6months postoperative. RESULTS: Conversion to conventional laparoscopic cholecystectomy (CLC) was required for six patients (5.7%). Conversion rate is higher in case of acute cholecystitis (25%, P<0.001). Cosmetic outcome is found excellent by the patient (in 86% of the cases at 6months) and by the surgeon (in 90% of the cases at 6months) using an EVA scale. An incisional hernia was found in two cases (1.9%) and a superficial wound infection in four cases (3.8%). CONCLUSIONS: The cosmetic outcome after SILC is found excellent. SILC has its place in the surgical management of the non-complicated gallstone. We did not notice higher level of peroperative complications (biliary tract injury) during SILC than during CLC. Postoperative higher level of abdominal wall complications than after a CLC makes the surgeon caution to a careful abdominal wall closure.


Assuntos
Colecistectomia Laparoscópica/métodos , Cálculos Biliares/cirurgia , Umbigo/cirurgia , Adulto , Idoso , Estética , Feminino , Seguimentos , Humanos , Modelos Lineares , Modelos Logísticos , Masculino , Pessoa de Meia-Idade , Duração da Cirurgia , Complicações Pós-Operatórias/epidemiologia , Estudos Prospectivos , Resultado do Tratamento
9.
Rev Med Brux ; 33(3): 171-5, 2012.
Artigo em Francês | MEDLINE | ID: mdl-22891589

RESUMO

The breast carcinoma metastases preferentially in the axillary lymph nodes, bones, lungs, liver and soft tissues. Gastrointestinal or bladder dissemination is very rare. We report the case of a 63-year-old female with a clinical presentation of acute cholecystitis, who underwent laparoscopic cholecystectomy in emergency. The gallbladder showed a nodule at the infundibulum, which was responsible for the gallbladder hydrops with macroscopic features of a cholangiocarcinoma. Histological examination disclosed a metastasis from a lobular breast carcinoma with positive hormone receptors, but no overexpression of the Neu oncogene. Immunohistochemistry showed positive staining for cytokeratin7 suggesting a lesion of breast origin. The absence of E-cadherin was consistent with lobular carcinoma while negative CA 19.9 excluded cholangiocarcinoma. The patient had received 15 years previously a right mastectomy with axillary dissection followed by chemotherapy and radiotherapy for breast carcinoma of ductal type labeled SBR stage III, pT3N1 M0, showing hormone receptors but absent Neu oncogene. Proofreading of the mastectomy histological slide concluded that it was a lobular rather than a ductal type carcinoma, confirming the finding of a gallbladder metastasis 15 years after the mastectomy. The patient showed no local recurrence or contralateral lesions on magnetic resonance imaging (MRI). The bone scan showed metastases in the skull, scapula, right rib cage, thoracolumbar spine and pelvis, also confirmed by MRI. A treatment with exemestane and zoledronic acid was introduced. The follow-up at 6 months showed regression of the bone lesions and absence of parenchymal new locations.


Assuntos
Neoplasias da Mama/patologia , Carcinoma Ductal de Mama/patologia , Neoplasias da Vesícula Biliar/secundário , Neoplasias da Mama/diagnóstico , Carcinoma Ductal de Mama/diagnóstico , Colangiocarcinoma/diagnóstico , Colangiocarcinoma/secundário , Feminino , Neoplasias da Vesícula Biliar/diagnóstico , Humanos , Pessoa de Meia-Idade
10.
Acta Chir Belg ; 107(4): 368-72, 2007.
Artigo em Inglês | MEDLINE | ID: mdl-17966527

RESUMO

AIM: To compare the results of open and laparoscopic appendectomy and to determine if the laparoscopic approach might be more effective for some subgroups of patients. MATERIAL AND METHODS: We retrospectively analysed the computerised data of 326 consecutive adult patients operated on for suspected appendicitis between 2001 and 2005. The series consisted of 166 men and 160 women with a mean age of 32 +/- 16 years and a mean Body Mass Index (BMI) of 24 +/- 4. There were 265 ASA I, 46 ASA II and 5 ASA III patients. According to the surgeon's preference, 176 patients had an open appendectomy (OA) and 150 a laparoscopic appendectomy (LA). RESULTS: The mean operative time and hospital stay were equivalent in the two groups : respectively 49 +/- 19 min. and 4.1 +/- 2.5 days in OA and 50 +/- 16 min. and 3.5 +/- 1.8 days in LA. However, subgroup analysis revealed that overweight (BMI > 25) patients (n = 102) and patients with ectopic appendices (n = 86) had an obvious benefit from LA. In cases of OA, operative time and hospital stay were longer in overweight patients than in normal weight patients: respectively 63 +/- 20 min. and 5.3 +/- 2.9 days versus 44 +/- 16 min. (p < 0.01) and 3.7 +/- 2.2 days (p < 0.01). On the contrary, no difference was observed in the LA group. Operative time and hospital stay were also longer in patients with ectopic appendices submitted to OA than in patients with an appendix in the normal position: respectively 60 +/- 18 min. and 4.7 +/- 2.7 days versus 45 +/- 18 min. (p < 0.01) and 3.9 +/- 2.4 days (p < 0.01). Again, such a difference was not observed in cases of LA. We noted no mortality, but 24 patients (7%) developed an abdominal complication : 18 wound infections and 6 intra-abdominal abscesses. Wound infections were more common in the OA than in the LA group : 7.3% (13/176) versus 3.3% (5/150) (p = 0.1). In the LA group, 4 wound infections were observed in our early experience, at a time where no endoscopic bag was used for the removal of the appendix. The rate of intra-abdominal abscesses was similar: 1.7% (3/176) in the OA group and 2% (3/150) in the LA group. CONCLUSIONS: LA is an effective procedure with a reduced risk of developing wound infection. The laparoscopic approach is particularly effective for overweight patients and/or patients with ectopic appendices as far as shortening the operative time and hospital stay is concerned.


Assuntos
Apendicectomia/instrumentação , Laparoscopia/métodos , Adulto , Apendicectomia/estatística & dados numéricos , Índice de Massa Corporal , Feminino , Humanos , Laparoscopia/estatística & dados numéricos , Tempo de Internação/estatística & dados numéricos , Masculino , Estudos Retrospectivos , Resultado do Tratamento
11.
Surg Endosc ; 16(7): 1108-9, 2002 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-11984680

RESUMO

Duodenal impaction of a gallstone after its migration through a cholecystoduodenal fistula is an uncommon cause of gallstone ileus described as Bouveret's syndrome. Surgical treatment is recommended, but the morbidity and mortality rates are nearly 60% and 30%, respectively. To reduce these rates using improved endoluminal surgery, a laparoscopically assisted intraluminal gastric surgery could be considered. A 74 year-old woman was admitted with typical Bouveret's syndrome. An intraluminal gastric laparoscopy was performed. The large stone impacted in the first duodenum was removed through the pylorus and pulled into the stomach. After its mechanical fragmentation, the stone was extracted with a sterile retriever bag through the main trocar. In the case of Bouveret's syndrome, treatment of the duodenal obstruction is mandatory. Surgical treatment of the cholecystoduodenal fistula still is controversial. We never perform a one-stage procedure, and we reserve a biliary operation for the patient who remains symptomatic. In this way, laparoscopically assisted intraluminal gastric surgery with transpyloric extraction of the stone can be a safe and interesting approach for this type of pathology.


Assuntos
Fístula Biliar/cirurgia , Colelitíase/cirurgia , Obstrução Duodenal/cirurgia , Obstrução da Saída Gástrica/cirurgia , Fístula Intestinal/cirurgia , Idoso , Feminino , Humanos , Litotripsia/métodos , Síndrome
12.
Horm Res ; 55(2): 88-94, 2001.
Artigo em Inglês | MEDLINE | ID: mdl-11509865

RESUMO

BACKGROUND: The growth response to recombinant hGH (rhGH) treatment and final height of 61 Belgian children (32 boys) with idiopathic growth hormone deficiency (GHD) were studied. PATIENTS/METHODS: Two patient groups were compared: Group 1 with spontaneous puberty (n = 49), Group 2 with induced puberty (n = 12). The patients were treated with daily subcutaneous injections of rhGH in a dose of 0.5-0.7 IU/kg/week (0.17-0.23 mg/kg/week) from the mean +/- SD age of 11.9 +/- 3.1 years during 5.1 +/- 2.1 years. RESULTS: rhGH treatment induced a doubling of the height velocity during the first year and resulted in a normalisation of height in 53 (87%) patients. Final height was -0.7 +/- 1.1 SDS, being 170.4 +/- 7.2 cm in boys and 158.0 +/- 6.4 cm in girls. Corrected for mid-parental height, final height was 0.0 +/- 1.1 SDS. Ninety-two percent of the patients attained an adult height within the genetically determined target height range. Although height gain during puberty was smaller in the patients with induced puberty (boys: 17.1 +/- 7.0 cm vs. 27.5 +/- 6.6 cm (p < 0.005); girls: 9.6 +/- 7.4 cm vs. 22.2 +/- 6.1 cm (p < 0.005)), no differences in final height after adjustment for mid-parental height were found between patients with spontaneous or induced puberty. CONCLUSIONS: We conclude that patients with idiopathic GHD treated with rhGH administered as daily subcutaneous injections in a dose of 0.5-0.7 IU/kg/week reach their genetic growth potential, resulting in a normalisation of height in the majority of them, irrespective of spontaneous or induced puberty.


Assuntos
Estatura , Hormônio do Crescimento Humano/deficiência , Hormônio do Crescimento Humano/uso terapêutico , Adolescente , Bélgica , Peso ao Nascer , Criança , Feminino , Humanos , Masculino , Puberdade
13.
J Clin Endocrinol Metab ; 86(1): 234-8, 2001 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-11232006

RESUMO

Congenital hypothyroidism (CH) is a relatively frequent and potentially severe disease. It is classically subdivided into: 1) thyroid dysgenesis (TD), a defect in the organogenesis of the gland leading to hypoplastic, ectopic, or absent thyroid gland; or 2) thyroid dyshormonogenesis, a defect in one of the biochemical mechanisms responsible for thyroid hormone synthesis. Most cases of TD are sporadic, although familial occurrences have occasionally been described. Recently, several genes have been implicated in a small proportion of TD, but, in the majority of the cases, the etiology remains unknown. PAX8 is a transcription factor involved in thyroid development. So far, three loss-of-function mutations of PAX8 have been described, two in sporadic cases and one in familial thyroid hypoplasia. Here, we describe a novel mutation of PAX8 causing autosomal dominant transmission of CH with thyroid hypoplasia. The mutation consists of the substitution of a tyrosine for cysteine 57 in the paired domain of PAX8. When tested in cotransfection experiments with a thyroid peroxidasse promoter construct, the mutant allele was unable to exert its normal transactivation effect on transcription. Our results give further evidence that, contrary to the situation in knockout mice, haplo-insufficiency of PAX8 is a cause of CH in humans.


Assuntos
Proteínas de Ligação a DNA/genética , Genes Dominantes , Mutação/fisiologia , Proteínas Nucleares , Glândula Tireoide/anormalidades , Transativadores/genética , Adulto , Sequência de Aminoácidos/genética , Sequência de Bases/genética , Hipotireoidismo Congênito , Proteínas de Ligação a DNA/fisiologia , Feminino , Humanos , Hipotireoidismo/genética , Lactente , Dados de Sequência Molecular , Fator de Transcrição PAX8 , Fatores de Transcrição Box Pareados , Doenças da Glândula Tireoide/complicações , Doenças da Glândula Tireoide/congênito , Doenças da Glândula Tireoide/genética , Doenças da Glândula Tireoide/fisiopatologia , Transativadores/fisiologia
15.
J Pediatr Endocrinol Metab ; 14 Suppl 5: 1249-60; discussion 1261-2, 2001.
Artigo em Inglês | MEDLINE | ID: mdl-11964020

RESUMO

Divergent findings on the quality of life (QoL) and the psychosocial functioning of adults treated during childhood with growth hormone (GH) because of GH deficiency (GHD) have been reported. In the present study we evaluated the QoL and the perception of the effect of former GH treatment in Belgian young adults with childhood GHD. Thirty-six patients (22 males) were included in the study. They all were treated during childhood with GH for GHD. QoL was evaluated with a standardised questionnaire: the Quality of Life Assessment of Growth Hormone Deficiency in Adults (QoL-AGHDA). Psychosocial functioning, sexual experience and schooling were evaluated by semi-structured interviews and questionnaires. The influence of gender, type of hormone deficiency (isolated GHD vs multiple pituitary hormone deficiencies [MPHD]), age at the start of GH therapy (before 12 yr vs after 12 yr) and the height deficit at the start of GH therapy (< -3 SDS vs > -3 SDS) were studied. In addition, the patients' and parents' perception of height and of the effect of GH treatment was retrospectively evaluated by semi-structured interviews. Age (mean +/- SD) at the time of evaluation was 20.0 +/- 1.3 yr and final height was -0.5 +/- 0.9 SDS, comparable to mid-parental height (-0.6 +/- 0.8 SDS). The QoL-AGHDA score was 9 +/- 6. About half of the patients, especially those in whom GH treatment was started after the age of 12 years, complained of retrospective difficulties with self-confidence and social contact, and about one-quarter of the patients had current difficulties with self-confidence, social contact, contact with the opposite sex and with emotional life. Only 44% of the patients had had sexual intercourse--none of those with MPHD. According to the parents, the patients had and still have more difficulties with self-confidence and social contact than their siblings and/or peers, and they needed and still need more emotional support. In one out of four patients the parents expected difficulties in finding a job, in one out of three patients parents expected difficulties in leaving home or in having a stable relationship. The educational level of patients with a height deficit < -3 SDS at start of GH therapy was lower than in patients with a height deficit > -3 SDS. According to the parents, about half of the patients, especially those with MPHD, had more study problems compared to siblings. In all patients, satisfaction with final height and GH therapy was obvious. In conclusion, the psychosocial outcome of young adults with childhood GHD was more satisfying than in previous studies. This could be due to a more adequate GH treatment with better final height results. Nevertheless, more difficulties with respect to psychosocial functioning were observed in patients with MPHD, in patients in whom GH treatment was started after 12 years of age and in patients with a height deficit < -3 SDS at the start of GH therapy, underlining the need for early diagnosis and treatment of childhood GHD, and of continuing medical follow-up and psychosocial counselling, particularly in these subgroups of patients with GHD.


Assuntos
Transtornos do Crescimento/tratamento farmacológico , Hormônio do Crescimento Humano/deficiência , Hormônio do Crescimento Humano/uso terapêutico , Adolescente , Adulto , Feminino , Crescimento/fisiologia , Transtornos do Crescimento/patologia , Transtornos do Crescimento/psicologia , Humanos , Masculino , Puberdade/fisiologia , Qualidade de Vida , Instituições Acadêmicas , Comportamento Social , Resultado do Tratamento
16.
J Clin Endocrinol Metab ; 84(5): 1558-61, 1999 May.
Artigo em Inglês | MEDLINE | ID: mdl-10323379

RESUMO

Most children born small for gestational age (SGA) normalize their size through spontaneous catch-up growth within the first 2 yr after birth. Some SGA children fail to do so and maintain an abnormally short stature throughout childhood. We have previously reported that high dose GH treatment (66 or 100 microg/kg x day s.c. over 2 yr; age at start, 2-8 yr; n = 38) induces pronounced catch-up growth in short children born SGA, thereby normalizing their height and weight in childhood. Here, we report on the further prepubertal growth course of these children over the first 4 yr after withdrawal of early, high dose GH treatment. Of the 38 treated children, none developed precocious puberty, and 22 remained prepubertal. Mean age of the latter at start of GH was 4.4 yr, height was -3.7 SD score, and height after adjustment for midparental height was -2.9 SD score. Height increased by an average of 2.5 SD during the 2 yr of GH treatment and decreased by 0.4 and 0.3 SD, respectively, during the first and second year after GH withdrawal. Subsequently, when stature was not extremely short at the start (mean adjusted height SD score, -2.7; n = 13), no further GH treatment was given, and the adjusted height was stabilized around -1.0 SD score; when stature was very short at the start (mean adjusted height, -3.3 SD score; n = 9), a second course of GH treatment (66 microg/kg x day s.c.) was initiated either 2 yr (n = 5) or 3 yr (n = 4) after initial GH withdrawal. This second course was associated with renewed catch-up growth and also resulted in a mean adjusted height of -1.0 SD score. In each subgroup, the pattern of the weight course paralleled that of the height course; GH treatment was well tolerated. In conclusion, early, discontinuous, high dose GH treatment appears to be a safe and efficient option to normalize prepubertal height and weight in the majority of short SGA children. It remains to be examined whether the normalized stature will be maintained during pubertal development, either with or without further GH treatment.


Assuntos
Transtornos do Crescimento/tratamento farmacológico , Hormônio do Crescimento Humano/uso terapêutico , Recém-Nascido Pequeno para a Idade Gestacional/fisiologia , Contagem de Células Sanguíneas , Estatura/efeitos dos fármacos , Peso Corporal/efeitos dos fármacos , Desenvolvimento Ósseo/efeitos dos fármacos , Criança , Pré-Escolar , Método Duplo-Cego , Seguimentos , Hormônio do Crescimento Humano/efeitos adversos , Humanos , Lactente , Recém-Nascido , Proteína 3 de Ligação a Fator de Crescimento Semelhante à Insulina/metabolismo , Fator de Crescimento Insulin-Like I/metabolismo , Masculino , Glândula Tireoide/fisiologia
17.
Surgery ; 124(6): 1134-43; discussion 1143-4, 1998 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-9854595

RESUMO

BACKGROUND: Classic morphological techniques are of limited value for imaging endocrine duodenopancreatic tumors, and invasive procedures such as intraarterial stimulation are often used. Two noninvasive procedures, endoscopic ultrasonography (EUS) and somatostatin receptor scintigraphy (SRS), were recently described with promising results. METHODS: In this study we correlated the results of preoperative EUS (n = 34) and SRS (n = 30) with operative findings in patients with histologically proven insulinoma (n = 20) or gastrinoma (n = 21). RESULTS: The sensitivity and positive predictive value (PPV) of EUS were respectively 77% and 94% for pancreatic tumors (insulinomas and gastrinomas), 40% and 100% for duodenal gastrinomas, and 58% and 78% for metastatic lymph nodes. The sensitivity and PPV of SRS for insulinoma were 60% and 100%, respectively. In patients with gastrinoma, the sensitivity and PPV of SRS were respectively 25% and 100% for pancreatic gastrinomas, 72% and 100% for duodenal gastrinomas or periduodenal metastatic lymph nodes, and 67% and 80% for liver metastasis. In patients with multiple endocrine neoplasia, neither one of the two techniques detected all tumors. Overall sensitivity of combined EUS and SRS was 89% for insulinoma (n = 9) and 93% for gastrinoma (n = 14). CONCLUSIONS: EUS and SRS for gastrinomas and insulinomas should be considered as the initial preoperative imaging procedures and may render invasive procedures unnecessary for most patients.


Assuntos
Endossonografia , Gastrinoma/diagnóstico por imagem , Insulinoma/diagnóstico por imagem , Neoplasias Pancreáticas/diagnóstico por imagem , Receptores de Somatostatina/análise , Adolescente , Adulto , Idoso , Criança , Feminino , Humanos , Período Intraoperatório , Masculino , Pessoa de Meia-Idade , Valor Preditivo dos Testes , Cuidados Pré-Operatórios , Cintilografia , Sensibilidade e Especificidade
19.
J Clin Endocrinol Metab ; 83(5): 1494-501, 1998 May.
Artigo em Inglês | MEDLINE | ID: mdl-9589645

RESUMO

This study evaluated the perception of stature, acceptance of therapy, and psychosocial functioning in relation to age at onset and time on treatment during 2 yr of GH therapy in 31 girls with Turner's syndrome grouped by age (group A: 3.7-5.8 yr, n = 9; group B: 7.2-11.8 yr, n = 13; group C: 12.5-16.4 yr, n = 9). The growth response after 2 yr was significant in the 3 groups when calculated in terms of growth norms for untreated Turner girls (mean increase in height SD score: +1.2, +1.5, and +1.1, respectively). The effect was less marked in terms of growth norms for normal girls, particularly in group B (+0.5 SD score). Height was perceived as a problem by most patients, except in the youngest girls at the start of treatment (group A) and in the majority of the adolescents after 2 yr of GH therapy (group C), without evidence of relation to growth response during therapy. The GH injections were fairly well accepted by all patients, except those younger than 6 yr. In all patients, expected adult height was unrealistic and became more realistic with age, whereas no consistent changes were observed in relation to growth response to GH therapy. The Child Behavior Checklist revealed elevated mean scores at the behavioral subscales of attention problems (group A and B), social problems, withdrawal, and anxiety-depression (most obviously in group B). No significant changes were seen during GH therapy. In group C, an elevated mean social problem score at the Youth Self Report and a low mean social self-esteem score at the Self-Esteem Inventory were observed before therapy and showed a significant improvement during 2 yr of GH treatment. These results, however, might be biased due to an increase in social desirability during therapy. We conclude that the perception of height, acceptance of GH therapy, and psychosocial functioning in girls with Turner's syndrome show important differences between age groups, with only slight changes observed during GH therapy.


Assuntos
Envelhecimento , Estatura , Hormônio do Crescimento Humano/uso terapêutico , Aceitação pelo Paciente de Cuidados de Saúde , Percepção , Síndrome de Turner/psicologia , Adolescente , Comportamento , Criança , Pré-Escolar , Feminino , Humanos , Inteligência , Autoimagem , Inquéritos e Questionários , Síndrome de Turner/tratamento farmacológico
20.
Acta Paediatr ; 86(8): 808-15, 1997 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-9307158

RESUMO

The aim of the present study was to evaluate the behavioral and affective characteristics and the changes in psychosocial functioning resulting from precocious puberty in 15 girls with central precocious puberty treated for 2 y using the GnRH agonist long-acting triptorelin, and in 5 untreated girls. After diagnosis of precocious puberty at 6.6-10.4 y of age, height, weight and pubertal development were evaluated at 3-month intervals over 2 y. Semi-structured interviews were carried out with the patient, the parents and the pediatric endocrinologists at 1, 8, 16 and 24 months after diagnosis. Standardized questionnaires (Child Behavior Checklist, Self-esteem Inventory) were administered at 1 and 24 months or 16 and 24 months, respectively. There was a mean 1.5-y delay between the observation of signs of puberty as reported by the parents and the diagnosis of precocious puberty at the first consultation of a pediatric endocrinologist. Before follow-up, all 20 girls were very concerned about physical differences from peers, particularly breast development. During therapy, breast regression to minimal or absent development occurred in 5/15 treated patients, who then no longer felt embarrassed about pubertal development in contrast to the other patients. Fear of sexuality remained obvious throughout the study in most patients. Feelings of loneliness and exemplary behavior were observed and tended to decrease in the treated patients and to increase in the untreated patients. Elevated scores of withdrawal, anxiety/depression and somatic complaints at Child Behavior Checklist were still observed after 2 y. These changes in behavioral and affective characteristics appeared to be related neither to height and weight, nor to development of pubic hair, which progressed in most patients. After 2 y, the physical differences remained a concern for 13 girls and the risk of short adult stature for 6. In summary, some behavioral and affective characteristics and particularities in psychosocial functioning are observed in girls with precocious puberty. During treatment with long acting triptorelin, problematic behavior and functioning decrease slightly, particularly in the few girls showing breast regression to minimal or absent development.


Assuntos
Comportamento Infantil , Luteolíticos/uso terapêutico , Puberdade Precoce/tratamento farmacológico , Puberdade Precoce/psicologia , Pamoato de Triptorrelina/uso terapêutico , Afeto , Estatura , Criança , Feminino , Humanos , Inteligência , Estudos Longitudinais
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