PubMed Health⌕ Search

Biomedical subjects

R B Tröbs

Publications and source records attributed to R B Tröbs.

At least 19 recordsLinked to original sources
PubMed2005

Histologic analysis of gonadal tissue in patients with Ullrich-Turner syndrome and derivative Y chromosomes.

To identify patients who had Ullrich-Turner syndrome (UTS) and were at risk for gonadoblastoma or associated germ cell tumors, molecular genetic analysis was carried out to detect Y chromosomal sequences. From peripheral blood samples of 5 patients who had cytogenetically confirmed UTS, genomic DNA was extracted and screened for Y chromosomal sequences by polymerase chain reaction. The morphology of the gonadal tissues was compared with results from polymerase chain reaction. Three phenotypic females showed UTS mosaicism with normal X chromosome accompanied by Y chromosomal material, and 2 patients showed marker chromosomes. Molecular analysis represented loci PABY, SRY, ZFY, TSPY, DYZ3, DYZ1 DXYS, 19Y, DYS-273, DYS-148, DYS218, DYS224, and DYZ1. Three patients showed gonadal tumors (1 with unilateral gonadoblastoma, 1 with unilateral dysgerminoma, and 1 patient had both tumors in 1 gonad). Molecular genetic screening for Y chromosomal sequences may be useful as an additional tool for the identification of patients at risk for a gonadal tumor. Careful, complete processing, including step sectioning, of the gonadectomy specimens to detect small lesions is recommended.

Adolescent↗
PubMed2005

Pediatric MR-guided interventions.

MRI guided interventions are a relatively new but steadily growing field within surgery in pediatric age. Besides the advantages of MRI, such as multiplanar capability and excellent soft tissue contrast and spatial resolution, particularly relevant for the pediatric population is the lack of ionizing radiation. There is meanwhile a group of well defined diagnostic or therapeutic indications for applying MR imaging during pediatric interventions. Aim of this review is to give an overview about indications of MR-guided procedures in children as well as the advantages and disadvantages of MR-guided interventions. We also briefly discuss interventional MR-systems and MR-compatible devices. It is our opinion that MR-guidance for pediatric interventions is a promising technique at the beginning of its development.

Child↗
PubMed2005

Acute portal vein thrombosis after splenic embolization and splenectomy for autoimmune pancytopenia.

Postsplenectomy portal vein thrombosis for hematological diseases is uncommon in the pediatric population. The case summarized is, to our knowledge, the first manifestation of portal vein thrombosis in a child after preoperative splenic artery embolization and subsequent splenectomy for severe hypersplenism. We suggest that early routine diagnosis by Doppler ultrasonography and subcutaneous low molecular weight heparin therapy are useful steps for a successful outcome.

Adolescent↗
PubMed2005

A new heterozygous mutation of the FOXL2 gene is associated with a large ovarian cyst and ovarian dysfunction in an adolescent girl with blepharophimosis/ptosis/epicanthus inversus syndrome.

Blepharophimosis/ptosis/epicanthus inversus syndrome (BPES), an autosomal dominant syndrome in which eyelid malformation is associated with (type I BPES) or without premature ovarian failure (type II BPES). Mutations of a putative winged helix/forkhead transcription factor FOXL2 account for both types of BPES. We report on a 16-year-old adolescent girl with blepharophimosis and ptosis. Subsequently she developed oligomenorrhea, secondary amenorrhea for 6 months, and an extremely large cyst of one ovary. The cyst contained 8 l of cyst fluid and histopathology displayed a large corpus luteum cyst. Following laparotomy, gonadotropin levels were elevated (LH 17.2 U/l, FSH 29.4 U/l) and estradiol levels decreased (67 pmol/l). Because of clinical aspects of BPES and abnormal ovarian function we suspected a mutation of her FOXL2 gene and found a new in-frame mutation (904_939dup36) on one allele, leading to a 12 alanine expansion within the polyalanine domain. We conclude that the FOXL2 mutation 904_939dup36 may account not only for blepharophimosis and ptosis but also for ovarian dysfunction and growth of the large corpus luteum cyst. In contrast to known FOXL2 mutations with polyalanine expansions and association with BPES type II, clinical aspects of our girl may indicate some degree of ovarian dysfunction that might finally lead to BPES type I with premature ovarian failure.

Adolescent↗
PubMed2003

Congenital urethral cysts in boys with vesicoureteric reflux.

UNLABELLED: Four cases of congenital urethral cysts are reported. Diagnosis was made by endoscopy. The coincidence of urethral cysts and vesicoureteric refluxes seemed incidental in three cases. Fetal infravesical obstruction was provable in the fourth infant. CONCLUSION: Urethral cysts should be considered in boys with vesicoureteric reflux. For the vast majority of cases it seems improbable that urethral cysts play a role in the pathogenesis of congenital vesicoureteric reflux.

Child, Preschool↗
PubMed2003

[MRI-guided pediatric interventions].

AIM: There are only a few diagnostic or therapeutic procedures where MR imaging is applied during pediatric interventions. This study will describe indications, complications as well as the advantages and disadvantages of MRI-guided interventions based on a case study in an open MRI scanner. MATERIALS AND METHODS: 14 procedures were performed in an open MRI scanner (Signa SP/i, GEMS) on 13 children (1 - 16 yr) with bone, soft tissue and brain lesions (1 - 4 cm diameter). Localization of the pathology, targeting and final control of the result were based on images acquired with SE-, 3D-, GE-sequences pre- and post-contrast as well as FSE-sequences. Interactive MRI-guided instrument navigation was performed using a multiplanar T1w GE-sequence. RESULTS: Eight biopsies (incl. 1 rebiopsy), two tumor resections, one removal of a free joint mouse and three tumor-markings were performed without complications. Five biopsies provided appropriate sample quality for a histological diagnosis while two samples were too fragmented requiring a second biopsy (one of them MRI-guided). Surgical progress during tumor resection and marking could be controlled during the intervention without repositioning the patient. DISCUSSION: MR image guided pediatric interventions combine the advantage of an imaging system without ionizing radiation and the high soft-tissue contrast. The low number of these kinds of procedures can be explained by the relatively high costs for the intervention, the increased duration for each procedure and the limited availability of open MRI systems. The integrated localization-system helps during planning of the access path when facing complex anatomical structures and provides safe navigation in sensitive regions like the epiphyseal cartilage. Recent and expected developments of the required MR-compatible biopsy instruments could provide higher efficiency for appropriate sample size and quality. Summarizing, MRI-guided pediatric interventions have shown to be a promising method at the beginning of its development.

Adolescent↗
PubMed2001

Outcome of paratesticular involvement in infants with neuroblastoma.

The authors report on 3 infants suffering from disseminated neuroblastoma (NB) involving the testes or paratesticular structures. INSS stage 4 in 2 cases, and "biological" INSS stage 4S were considered, respectively. One patient with a stage 4 NB died of tumor progression; one patient is under therapy. The patient with NB 4S was cured with preservation of both testes after antineoplastic chemotherapy and reduction of the retroperitoneal primary. J Pediatr Surg 36:E23.

Antineoplastic Agents↗
PubMed2001

A 23-year experience with malignant renal tumors in infancy and childhood.

A retrospective analysis of 77 children treated between 1974 and 1996 was undertaken to evaluate morbidity and the evolution of therapy. A Wilms' tumor (WT) was present in 73 children. 74% of patients (pats.) with WT survived (54 of 73 pats.). Histological specimens of 67 patients were re-evaluated, including 4 children with non-WT histology. Among patients with Wilms' tumors (WT), nephroblastoma (NB) of intermediate risk predominated (73%; 46 of 63 pats.). Low-risk tumors occurred in 5 of 63 children (8%; mesoblastic nephroma 3, cystic partially diff. NB 1, completely necrotic NB 1). High-risk WT were diagnosed in 12 of 63 patients (19%) (NB with anaplasia 10, clear cell sarcoma 1, malignant rhabdoid tumor 1). Nephrogenic rests were present in 14 cases. We observed 3 children of school age with renal carcinoma and one patient with an intrarenal neuroblastoma. WT histology was the most important factor determining prognosis (p = 0.018). The risk for relapses was 2.6-fold higher in patients with high-risk WT compared to the standard risk group. Stages were re-evaluated according to SIOP 93-01. Comparing relapse-free survival of stages I, II and III, respectively, there was a reduced survival rate for stage III (p=0.019). According to the SIOP/GPOH protocol in 1989, the regimen was switched from primary surgery to preoperative chemotherapy without biopsy in 1989 (11 pats.). Compared to earlier years, survival improved (n.s.). In 3 patients preoperative diagnosis by means of imaging failed. During preoperative chemotherapy a venous occlusive disease of the liver occurred in 2 patients. Preoperative chemotherapy led to an impressive tumor shrinkage in the majority of patients. 2 patients of the preoperative group died (focal anaplastic NB). Long-term morbidity was analysed in 49 patients and included radiation-induced scoliosis (35), chest-wall deformity (3), congestive cardiomyopathy after relapse (1) and arterial hypertension (2). Over the years there was a trend to reduce frequency and dose of irradiation. Prognosis of WT is excellent but unfavorable histology (high risk) predicts a poor prognosis. In our experience, reduction of tumor volume due to preoperative chemotherapy facilitates tumor removal by surgery and may prevent tumor spillage and the deleterious effects of radiation in young children. Surgery without delay is necessary if the diagnosis is unclear or the tumor fails to respond to preoperative chemotherapy.

Antineoplastic Agents↗
PubMed2001

Perineal ectopic testis: a rare cause of empty scrotum.

Perineal ectopic testis is a rare congenital anomaly and remains a urologic curiosity. We report the course of 2 recurrent cases after hormonal therapy and a third case associated with inguinal hernia. During the surgical exploration, the gubernaculum testis was found fixed to the perineum. The testes were placed in the scrotum. The evaluation of differential diagnosis of empty scrotum is recommended.

Child, Preschool↗
PubMed1998

Chronic recurrent multifocal osteomyelitis--report of eight patients.

The authors undertook a retrospective review of the clinical records and radiologic findings of eight children with chronic, recurrent multifocal osteomyelitis (CRMO). This disease is a recognized clinicopathologic entity with typical radiographic findings, mostly in the metaphyses of the long bones. The diagnosis is one of exclusion without pathognomonic findings. The patients were treated with non-steroidal anti-inflammatory drugs. There was no evidence of altered bone growth or abnormal joint development. It is concluded that CRMO is a distinct clinical entity that is different from acute or subacute bacterial osteomyelitis. Recognition of this condition is important to avoid treatment with antibiotics and repeated operations.

Adolescent↗
PubMed1998

Partial splenectomy, transposition of the spleen to the abdominal wall or splenohepatoplasty in portal hypertensive rats. Effects on portal venous pressure and homeostasis--microscopical appearance of the transposed spleen.

Reduction of the splenic volume by partial resection and collateral development after transposition are of potential value in the elective treatment of esophageal varices, hypersplenism and ascites. A study was performed on young Wistar rats. A simple animal model of extrahepatic portal hypertension was used, narrowing the portal vein to an outer diameter of one millimeter (PVS). One day, three weeks and seven weeks after this operation the portal venous pressure was elevated as compared with the sham-operated controls. The portal hypertension was statistically significant at week three (1.31 +/- 0.04 vs. 0.72 +/- 0.18 kPa, p = 0.01). Portocaval pressure gradient after partial resection of the spleen (SR) and intramuscular transposition (IMTrans) was compared with the pressure gradient after graded portal vein stenosis. Three weeks after intramuscular transposition portocaval pressure gradient was reduced (1.46 +/- 0.38 vs. 1.74 +/- 0.13 kPa, n.s.). This data supports the hypothesis that the portal venous high-pressure compartment and the systemic venous low-pressure compartment are maintained after development of natural shunts to the systemic circulation. In the following experiment different types of splenic transposition were tested and compared to each other and a normal control group or to rats with protal vein stenosis (PVS), respectively. After PVS, the animals were reoperated, an SR was performed and the wound surface of the spleen was transposed into the left abdominal wall subcutaneously (SCTrans) or intramuscularly (IMTrans) or to the left liver lobe (splenohepatoplasty, SHP), respectively. After three weeks the animals underwent measurements of organ weights, collections of blood samples and the spleen was investigated histologically. Blood cell counts were nearly normal but total serum protein, albumin and the colloid osmotic pressure were slightly diminished or significantly reduced (COP in the groups PVS + SR + IMTrans or SCTrans, p < 0.05) compared to the controls. Differences to the group with portal vein stenosis (PVS) were not significant. Serum protein electrophoresis after splenic transposition revealed an unobtrusive distribution pattern. Animals after SHP had the best increase in weight and high protein levels, but splenohepatic collateral development seemed sparse. Differences of plasma ammonium levels were statistically not significant, but some animals had elevated levels after transposition. Morphometry of routine-stained spleen specimens showed an intact immunoarchitecture of the transposed spleens.

Abdominal Muscles↗
PubMed1998

[Endocrine surgery from the viewpoint of the pediatric surgeon].

The extent of surgery for thyroid tumors is discussed. Prophylactic thyroidectomy in MEN II a and b is advocated. Pancreatic surgery is necessary in cases of nesidioblastosis, islet cell carcinoma, papillary-cystic neoplasia and pancreaticoblastoma. Gastrointestinal tumors with hormonal activity are very rare. "Incidental carcinoid" is occasionally found. Early detection of Zollinger-Ellison syndrome in childhood usually allows for complete removal of a gastrinoma. Benign and malignant neoplasms of the adrenals warrant radical surgery. We report one case of minimally invasive bilateral removal of the adrenals for nodular hyperplasia. Pheochromocytoma in childhood presents several peculiarities influencing perioperative management. It may occur as part of MEN II a.

Adolescent↗
PubMed1997

Granuloma annulare, nodular type--a subcutaneous pseudorheumatoid lesion in children.

Five cases of patients aged between 2 years 8 months and 5 years 6 months with subcutaneous nodular granuloma annulare are reported. Histologically the lesions resembled rheumatoid nodules, consisting of acellular central areas surrounded by palisading histiocytes. Complete or partial excisions were done for diagnosis. Initially the granulomata were not associated with any symptoms of systemic illness, but one patient with IgG deficiency developed subsequent polyarthritis. Antistreptolysin O, antinuclear antibodies and latex fixation test for rheumatoid arthritis were negative except for one patient with additional erythema nodosum and elevated antistreptolysin level. In the other patients the laboratory data were uncharacteristic. The clinical course may be characterized by spontaneous regression and frequent recurrence. In asymptomatic patients further treatment is not necessary. Patients with progressive disease or elevated inflammatory activity were treated with nonsteroidal antirheumatics. The development of subsequent rheumatoid disease in primarily asymptomatic patients is unlikely, but we recommend further observation by an experienced pediatrician.

Child, Preschool↗
PubMed1996

[Results of partial splenic resection and transposition to the lateral abdominal wall in portal hypertension in childhood].

Between 1977 and 1995, 19 children with portal hypertension (nine extrahepatic, ten intrahepatic) were treated by transpositioning the spleen into the left abdominal wall. Among the patients with intrahepatic portal hypertension three died. Two patients underwent secondary diminuition of the transposed spleen due to relapsed hypersplenism. In one of our first patients the transposed spleen atrophied after tangential resection. All surviving patients except one preserved hepatic function. The serum colloid osmotic pressure was stable. Plasma ammonia levels were normal. Serum immunoglobulins (IgG, IgM, IgA and IgG subclasses) and complement components (C3c, C4) were analyzed. After transposition patients had normal or slightly elevated values of these proteins compared with controls.

Abdominal Muscles↗
PubMed1996

[Hepatic veno-occlusive disease--simulating acute abdomen in chemotherapy of Wilms' tumors].

Two of fifteen patients treated in the last 5 years in our hospital for malignant renal tumors developed a venoocclusive disease (VOD). Both had stage II Wilms' tumors with favorable histology. The VOD occurred in the pre- and postoperative period, respectively, some days after application of vincristine and dactinomycin. The boys were aged 2 years and 3 months and 2 years and 9 months, respectively, with body weights of 13 kg and 19 kg, respectively. The treatment of VOD required intensive care procedures. The tumours were removed by nephrectomy and the patients have now remained in remission for 3 years and 1 year and 4 months, respectively. Jaundice, enlargement of the liver, ascites and fever were the symptoms in both patients. Initially, the VOD presented like appendicitis.

Abdomen, Acute↗
PubMed1988

[Three dimensional growth of the extrahepatic bile ducts--surgical inferences].

Allometric growth of length and increasing of lumen area of the extrahepatic bile ducts were examined morphometrically in 50 human cases at the age of 28 gestational weeks up to 19 years. We calculated the flow resistance in relation to body weight with the help of the principle of Hagen-Poisoille. Principle ways to better bile flow in cases of non-correctable biliary atresia or bile duct hypoplasia are derived.

Adolescent↗