RESUMO
Determining the mutational status of susceptibility genes including RET, VHL, SDHx (SDHB, SDHC, SDHD) among patients with pheochromocytoma/paraganglioma (PCC/PGL) is gaining importance. These genes have not been systematically characterized among patients with PCC/PGL from India. The aim of the work was to screen the most frequently mutated genes among patients with PCC/PGL to determine the frequency and spectrum of mutations seen in this region. Fifty patients with PCC/PGL treated at our tertiary care hospital between January 2010 and June 2012 were screened for mutations in susceptibility genes using an algorithmic approach. Thirty-two percent (16/50) of patients were found to be positive for mutations including mutations among RET (n=4), VHL (n=6), SDHB (n=3), and SDHD (n=3) genes. None of these patients were positive for SDHC mutations. A significant association was found between young patients with bilateral tumors and VHL mutations (p=0.002). Two of the 3 patients with extra-adrenal SDHB associated tumors, had unique mutations, viz., c.436delT (exon 5) and c.788_857del (exon 8), one of which was malignant. High frequency of mutations seen among patients in this study emphasizes the need to consider mutational analysis among Indian patients with PCC/PGL.
Assuntos
Neoplasias das Glândulas Suprarrenais/genética , Predisposição Genética para Doença , Mutação , Proteínas de Neoplasias/genética , Feocromocitoma/genética , Adolescente , Adulto , Idoso , Criança , Feminino , Humanos , Índia , Masculino , Pessoa de Meia-Idade , Centros de Atenção TerciáriaRESUMO
INTRODUCTION AND OBJECTIVE: Congenital anterior urethral diverticulum is a rare entity. This teaching video shows the scrotal pop-off mechanism for an anterior urethral diverticulum and the unique voiding pattern of a boy who empties his bladder by compression of his scrotum. The findings during urethroscopy and open reconstruction are also demonstrated. PATIENT AND METHODS: A four-year-old boy presented to the clinic with a poor urinary stream and scrotal swelling during voiding. Physical examination during voiding revealed a dumbbell-shaped anterior urethral diverticulum with scrotal pop off and preserved renal function. RESULTS: Open excision of the scrotal part of diverticulum was performed. Urethroplasty was conducted using a de-epithelialised diverticular wall flap from the penobulbar urethra. On follow up the boy voided with a good flow and resolution of symptoms. CONCLUSION: Scrotal pop off with completion of voiding by manual compression of the diverticulum may preserve bladder and renal function. The preferred treatment of anterior urethral diverticulum is open excision of the diverticulum and reconstruction. The wall of the diverticulum may be used to reinforce the repair ventrally, where the corpus spongiosum is deficient.
Assuntos
Divertículo/cirurgia , Escroto , Doenças Uretrais/cirurgia , Retenção Urinária/etiologia , Retenção Urinária/terapia , Pré-Escolar , Divertículo/complicações , Divertículo/congênito , Humanos , Masculino , Doenças Uretrais/complicações , Doenças Uretrais/congênitoAssuntos
Cateteres de Demora , Migração de Corpo Estranho/etiologia , Falência Renal Crônica/terapia , Laparoscopia/efeitos adversos , Diálise Peritoneal Ambulatorial Contínua/instrumentação , Seguimentos , Migração de Corpo Estranho/cirurgia , Humanos , Masculino , Pessoa de Meia-Idade , Reoperação , Tomografia Computadorizada por Raios XRESUMO
BACKGROUND: A severe degree of ureteral obstruction is viewed as a predictor of poor outcome in shockwave lithotripsy (SWL). Impacted stones are often considered a contraindication to in-situ SWL. PATIENTS AND METHODS: Impaction in our study was defined as failure to visualize the ureter distal to the calculus with proximal hold-up of contrast for as long as 3 hours on an intravenous urogram (IVU). We evaluated 30 patients with impacted ureteral calculi, who were compared with a second unimpacted group matched for stone size and stone location. The calculi were reorganized into < or =10-mm and >10-mm groups. The results were compared in terms of clearance rates, number of shockwaves, number of sessions, and number of days between the start of SWL and clearance. RESULTS: Between January 1998 and December 2001, 30 impacted stones were treated with lithotripsy. Complete clearance rates in the impacted as well as the non-impacted group were 76.7%. There was no statistical difference in the number of shockwaves, sessions, or time to clearance. The results were poorer in lower-ureteral than upper-ureteral calculi, but this difference did not reach statistical significance. However, the differences between the < or =10-mm and >10-mm stones were statistically significant. CONCLUSION: Impaction on an IVU does not affect the results of lithotripsy.
Assuntos
Litotripsia/métodos , Cálculos Ureterais/terapia , Humanos , Radiografia , Resultado do Tratamento , Cálculos Ureterais/diagnóstico por imagemRESUMO
BACKGROUND AND PURPOSE: Several anatomic factors influence the clearance of lower pole stones treated with shockwave lithotripsy (SWL). One of these is the infundibulopelvic angle, but its measurement is complex. METHODS: We proposed a more simple measure of caliceal dependence, the caliceal pelvic height (CPH), which we defined as the distance between a horizontal line from the lowermost point of the calix containing the stone to the highest point of the lower lip of the renal pelvis. RESULTS: In 62 patients who had SWL for solitary lower pole stones, a CPH < 15 mm was associated with a stone clearance rate of 92%, whereas with a CPH > or = 15 mm, the clearance rate was only 52% (p < 0.05). A majority (74%) of the patients with an infundibular width of > or = 5 mm were rendered stone free compared with 40% of those with a width of < 5 mm (p < 0.05). CONCLUSION: Measurement of the CPH, in conjunction with other anatomic factors, may more accurately predict the outcome of SWL in patients with lower pole stones.
Assuntos
Cálculos Renais/terapia , Cálices Renais/anatomia & histologia , Litotripsia/métodos , Pelve/anatomia & histologia , Adulto , Idoso , Antropometria , Feminino , Gravitação , Humanos , Masculino , Pessoa de Meia-Idade , Valor Preditivo dos Testes , Resultado do TratamentoRESUMO
BACKGROUND: The results of regular intermittent self catheterization were compared with regular outpatient dilatation after endoscopic internal urethrotomy for urethral strictures. METHODS: The records of patients who were treated for urethral stricture disease over a 4-year period from 1991 to 1994 were reviewed. They were either on regular urethral dilatation or were advised to carry out self calibration. A follow-up questionnaire was sent to them and they were asked to attend a review. Student's t-test and Proportion Test were used to find out if there was any significant difference between the two groups. RESULTS: There were 78 patients who were on self calibration and 49 patients on regular urethral dilatation. There was no significant difference between the two groups regarding the duration of follow-up (21.5 and 23.7 months, respectively); the length of stricture (1.5 and 1.7 cm, respectively); and complications (two and four, respectively). However, patients on self calibration had narrower strictures (4.8 and 5.7 F) and a significantly lower restricture rate (5 and 16%). The current urinary stream was compared to the immediate postoperative stream. This showed that a higher number of patients in the dilatation group were voiding at less than 25% of their immediate postoperative flow. People from high and low socio-economic groups were able to carry out self calibration satisfactorily. CONCLUSION: Patients from high and low socio-economic groups found that self calibration resulted in a lower restricture rate and better stream when compared to regular urethral dilatation.
Assuntos
Assistência Ambulatorial , Dilatação , Autocuidado , Estreitamento Uretral/terapia , Cateterismo Urinário/métodos , Humanos , Recidiva , Autocuidado/instrumentação , Estreitamento Uretral/etiologiaRESUMO
The clinical presentation, radiological manifestations and response to therapy of seven cases of biopsy-proven eosinophilic cystitis seen over an 8-year period were evaluated retrospectively. All of the five men and two women had symptoms of dysuria and frequency, with haematuria in two cases. One developed acute painful retention. The urine was sterile in all. Radiological findings included bladder mass lesions and upper tract dilatation. Cystoscopy showed papillary, erythematous and ulcerative mucosal lesions, and in one instance a large mass lesion. The various procedures carried out were cold cup biopsies, transurethral resections, or fulgration of lesions and partial cystectomy. Medical therapy included non-steroidal anti-inflammatory drugs and prophylactic antibiotics to cover the procedures carried out. There was excellent symptomatic improvement in all patients. This is the largest single-centre experience reported, and is unusual as the majority of the patients in this series were men.
Assuntos
Cistite/patologia , Eosinofilia/patologia , Bexiga Urinária/patologia , Adulto , Idoso , Cistite/epidemiologia , Eosinofilia/epidemiologia , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Estudos RetrospectivosRESUMO
Metastatic choriocarcinoma of the kidney is a rare entity, and its primary presentation with hematuria and renal mass is even less common. Two cases are presented with a review of the literature.
Assuntos
Amenorreia/etiologia , Coriocarcinoma/diagnóstico , Neoplasias do Endométrio/diagnóstico , Hematúria/etiologia , Neoplasias Renais/diagnóstico , Adulto , Coriocarcinoma/complicações , Coriocarcinoma/secundário , Neoplasias do Endométrio/complicações , Neoplasias do Endométrio/patologia , Feminino , Humanos , Neoplasias Renais/complicações , Neoplasias Renais/secundárioRESUMO
Angiodysplasia of the intestine was diagnosed by selective visceral angiography in ten of 30 patients from India with unexplained recurrent hemorrhage of the gastrointestinal tract. In contrast with the reports from the western literature, most of the instances involved the small intestine and occurred in the third decade of life.