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Biomedical subjects

R Skába

Publications and source records attributed to R Skába.

At least 19 recordsLinked to original sources
PubMed2006

[Thyroid carcinomas and Hirschsprung's disease--10-year experience with molecular genetic testing of the RET proto-oncogene].

In the last ten years, research has confirmed the role of the RET proto-oncogene in the pathogenesis of thyroid cancer such as medullary thyroid carcinoma (MTC) and papillary thyroid carcinoma (PTC), multiple endocrine neoplasia type 2 (MEN 2) and Hirschsprung's disease that can be associated with MTC or MEN 2. Through the use of molecular genetic testing, we are able to detect gene mutations and the course the disease might take can be predicted, thus enabling us to cure mutation carriers among the high-risk patients can at a very early, clinically asymptomatic stage of the disease; prophylactic total thyreoidectomy in said patients is recommended. At this juncture, there is extensive on-going research on the physiological role played by the RET proto-oncogene on the normal proliferation, differentiation and survival of the cell. Thanks to the new findings there are now possibilities of the theurapeutic use of gene therapy on an RET signaling cascade level in near future.

Carcinoma, Medullary↗
PubMed2006

[Morgagni diaphragmatic hernia in childhood].

The aim of this work was to retrospectively assess clinical and anatomical features of children with Morgagni congenital diaphragmatic hernias. The study group included 5 boys and 3 girls, aged between 5 months and 13 years, at the time of the diagnosis. Morgagni diaphragmatic hernia was diagnosed with non-acute symptoms in 8 children. A retrosternal defect of the diaphragm was left-sided in 7 subjects and bilateral in 1 boy. A hernial sac was found in 6 children. In 3 subjects, the hernial sac contained the liver, in 2 subjects the omentum, in 2 subjects the transverse colon and small intestinal loops and in one child it contained the transverse colon with the omentum. In all cases, the diaphragmatic defect was closed using primary plasty. All subjects healed without complications. A differential diagnosis of congenital Morgagni hernia must be considered in children with unusual respiratory and gastrointestinal symptoms with abnormal x-ray findings on chest examination. A stricture of the congenital Morgagni diaphragmatic hernia is rare, and was not recorded in our group.

Adolescent↗
PubMed2006

[Rates and histological characteristics of rectal polyps in childhood].

AIM OF STUDY: To determine a single centre incidence, rate of early and late complications and sequelae and histological characteristics of solitary rectosigmoideal polyps in children. METHODS: Retrospective analysis of hospital charts and histological characteristics of patients operated for rectosigmoideal polyps between January 1995 and December 2005. There were 23 children operated on, the study group consists of 20 patients (3 patients were excluded because of insufficient documentation). Demographics, symptomatology, season of first manifestation, localization, histology, postoperative complications and recurrence rate were evaluated. RESULTS: There were 7 boys and 13 girls in the study group (1:1.9), age at manifestation was 2-17 years (average 5.6 y.). The presenting symptom was bleeding in 14 pts, anal prolaps once and combination of both symptoms 5 times. The polyps were localized 3-15 cm from anocutaneous border, on the posterior intestinal wall. Histological examination showed a juvenile polyp in 15 (75%) patients, atypical juvenile polyp and inflammatory polyp in 2 patients each and lymphoid polyp in one case. One patient suffered from a mild bleeding postoperatively. No recurrence was noted. CONCLUSION: Polyps in children are rare, surgical removal of polyps is a relatively easy operation with minimum complications. Long term follow-up is not necessary. The seasonal occurrence of first symptoms predominantly in autumn and winter months (19 pts) has not been to our knowledge previously published.

Adolescent↗
PubMed2004

Alimentary tract duplications in children: high incidence of associated anomalies.

BACKGROUND: Alimentary tract duplications (ATDs) are rare congenital anomalies affecting about 1 in 4500 newborns with a male/female ratio of 1.2 : 1. The presence of associated, sometimes complex congenital anomalies can pose a challenge to surgeons treating patients with ATDs. The aim of this work was to study the characteristics of ATDs and associated anomalies in our patients. METHODS: Retrospective study. Medical charts of 24 patients (7 males, 17 females) diagnosed with ATD during the years 1990 - 2001 at the Department of Paediatric Surgery, Motol Children's Hospital in Prague, Czech Republic were reviewed. RESULTS: Sixteen patients (67 %) were diagnosed at ages younger than 3 years. Eight cases were foregut duplications, 9 were midgut, and 7 hindgut anomalies. In 13 patients (54 %) associated malformations were documented. Eight patients (33 %) developed postoperative complications, 1 patient died. Complications were more frequent in the group of patients with associated anomalies (53 % vs. 9 %). CONCLUSIONS: Associated congenital malformations are frequently present in patients with ATDs. The complexity of the surgical repair of these anomalies may contribute to higher morbidity and mortality rates. A thorough examination to identify and characterise the presence of ATDs and associated congenital defects would provide appropriate diagnostic and surgical approaches for these patients.

Abdominal Pain↗
PubMed2004

[Treatment of congenital diaphragmatic hernia in neonates].

BACKGROUND: Treatment of the Congenital Diaphragmatic Hernia in neonates with early manifestations has been accompanied with significant mortality. Authors present the treatment protocol employed in such children and results from the period January 1994 to December 2003. METHODS AND RESULTS: Since January 1994 to December 2003 96 children were cured for the Congenital Diaphragmatic Hernia. Ratio F:M was 36:60. 29 children (30%) were diagnosed prenatally, the remaining newborns were diagnosed on the basis of thoracic X-ray, which was required for the early signs of respiratory insufficiency. The postnatal treatment protocol included circulation-ventilation stabilisation, operation, early extubation and initiation of the peroral nourishment. Altogether 78 (81%) of children were operated after the stabilization using the standard laparotomy method, 5 children (6%) were operated with extra corporal membrane oxygenation, in 20 children (26%) a Goretex patch was used to cover an extensi e defect in the diaphragm. Overall survival was 74%, survival of operated children was 91%, 75% of children with a patch survived, survival of children operated with ECMO was 40%. Relapse occurred in one child (1%) with a patch. CONCLUSIONS: Specification of the prenatal diagnosis and collection of patients with CDH into tertiary centres with ECMO possibility can improve prognosis of neonates with the malformation.

Female↗
PubMed2004

[Treatment of the Hirschsprung's disease (HD) at the Department of Pediatric Surgery of Charles University, 2nd Faculty of Medicine, from 1979 to 2004].

BACKGROUND: Survey of surgical techniques, strategy and results of the treatment of patients with Hirschsprung's disease (HD) at the Department of Pediatric Surgery of Charles University, 2nd Faculty of Medicine in Prague from 1979 to 2004 is presented. METHODS AND RESULTS: Paper summarises a twenty-five years long retrospective study of medical records of 274 patients who were operated on 1979-2004. 173 (67,3 %) pts had classical rectosigmoid (CRA) and/or long colonic aganglionosis (LCA). 19 (6,4 %) pts had total colonic aganlionosis with small bowel involvement (TCA). 72 (26,3 %) pts suffered from ultra-short rectal aganglionosis (URA). 74 pts with CRA and LCA operated on 1979-1991 underwent Kasai's colorectoplasty. 8 (10,8 %) of them had anastomotic leak, 7 (9,5 %) pts had anastomotic stricture, 2 (2,7 %) pts had postoperative enterocolitis (PEC) and 10 (13,5 %) had chronic constipation. In 6 pts an additional partial sphincteromyectomy of the internal anal sphincter SFME) had to be done. In period 1991-2004 93 pts underwent Swenson's procedure with (SFME). Anastomotic leak occurred in 3 (3,2 %) pts. Anastomotic stricture, PEC and/or chronic constipation were not registered. In 6 pts with anastomotic leak from both groups Soave re-do pull-through was done. In 2003-2004, 10 pts with CRA underwent a transanal resection of aganglionic segment with Swenson's colorectoplasty. One pt developed anal stricture. 3 of 19 pts with TCA operated on in 1979-1990 underwent classic Martin's long side to side ileo-recto-colic anastomosis. In 16 pts of 1991-2004 only short ileo-recto anastomosis according to Kasai and/or Swenson were done. In 93 pts suffering from URA a Lynn's SFME was performed. Three-stage procedure for the last time was used in 3 pts in 1984. Two- and one-stage procedures are still used. CONCLUSIONS: A number of postoperative complications decreased, a three-stage procedure was abandonned and the operation of HD is currently performed in newborn. In CRA a TAR replaced the laparatomy and in TCA the short ileo-rectal anastomosis is performed only.

Child↗
PubMed2004

[Necrotizing enterocolitis in extremely immature newborns. The surgical treatment potential].

AIM: The aim of this study is to assess a contemporary treatment potential for necrotizing enterocolitis in newborns with birth weights under 1000 g. METHODOLOGY AND SUBJECTS: This is a retrospective study of clinical and pathological data in a group of 19 newborns with birth weights under 1000 g treated for necrotizing colitis (NEC) by the authors' team from 1999 to 2003. Only newborns with the second and third grade NEC according to Bell were included in the trial group. RESULTS: The trial group included 19 newborns born in the 26th gestation week, on average (ranging from 23- to 31) with a mean birth weight of 711 grams (the range between 460-980 g). Their NEC appeared on the 18th postnatal day, on average (the range between 6-59). Ten newborns were operated in the acute stage of their NEC, nine were treated conservatively. Five infants operated in the acute stage had separational ileostomy conducted, four had a T-drain introduced and one had an abdominal drain introduced. In the conservatively managed group, three infants were consequently operated for intestinal strictures following their NEC, two recovered during the conservative treatment and four exited due to a fast progress of their NEC without surgery. The total mortality rate of the trial group was 42% (8 infants exited). CONCLUSION: The NEC treatment in the extremely immature newborns with birth weigts under 1000 g requires complex cooperation of a neonatologist and a paediatric surgeon. The necrotic intestine resections followed by stomic procedures remain standard procedures in unstable newborns with a localised form of the disease.

Enterocolitis, Necrotizing↗
PubMed2003

[Late manifestations of congenital diaphragmatic hernia].

The aim of the work was to evaluate clinical and anatomical features in children with late manifestations of inborn diaphragma hernia after the newborn period. The group included 11 boys and 7 girls at the age of two to 78 months during the time of diagnosis. The diaphragma hernia was diagnosed in 15 children during non-acute manifestations and in three children affected by emergencies. A posterior-lateral defect of diaphragma was on the left side in 11 children and in 7 children on the left. A hernia sac was found in 11 children. Organs protruding into thorax included intestinal loops in 12 children, liver in 7 subjects, spleen in 6 individuals, stomach in five and kidney, pancreas and omentum in one each. The defect in diaphragma was occluded by a primary plasty in 17 children, while a patch from Goretex was used once. An intestinal strangulation required resection of necrotic part of intestine, but the boy died one month later for a multi-organ failure despite long-term resuscitation care. The other children were cured up without complications. The inborn diaphragma hernia should be considered in differential diagnosis of every child with unusual respiratory or gastrointestinal symptoms and abnormal X-ray picture of thorax. Acute strangulation of inborn diaphragma hernia after the newborn period is a life-threatening disease, where the gastrointestinal obstruction is combined with respiratory and circulation failure.

Child, Preschool↗
PubMed2003

[Transanal resection of the recto-sigmoid--the future in the treatment of classic Hirschsprung's disease?].

INTRODUCTION: The technique of transanal resection (TAR) of aganglionary part in rectosigmoid, published in 1998, has gradually become a standard operation technique in the treatment of Hirschsprung's disease (H.d.). Since the TAR technique for H.d. is not yet generally widespread and has not been used in the Czech Republic yet, the authors intended to share their own experience and early results obtained by this surgical technique. COHORT OF PATIENTS: Seven patients (five boys and two girls) suffering from the classical recto-sigmoid form have been operated on since June 2003. One girl was affected with the Down's syndrome. The age of the patients at the time of operation was between one and 24 months. SURGICAL TECHNIQUE: The extent of intestinal resection was determined on the basis of per-operation biopsy. The length of the rectrosigmoid resection was between 25 and 35 cm. The colorectal anastomosis with partial sphincteromyectomy of internal anal sphincter was performed by the technique according to Swenson. The antibiotic prophylaxis was secured by three doses of cefoxitin and one dose of isepamycin. RESULTS: Intestinal passage reestablished 8-12 hours after the surgery, and complete oral intake began on day 3 or 4 after the operation. All patients healed up without complications, the period of hospitalization was seven days on the average. The final diagnosis of H.d. was confirmed by biopsy examination of the dissected portion in all cases. CONCLUSION: TAR is univocally the method of first choice in the surgery of classical Hirsprung's disease when compared with laparotomy or laparoscopy.

Child, Preschool↗
PubMed2002

Disseminated intestinal hypoganglionosis treated by colectomy and tapering of the small intestine. A case report.

A girl suffering from chronic constipation and abdominal distension from her first year of life underwent internal anal sphincter myectomies at 5 and 7 years of age without resolution of her symptoms. At the age of 8, an ileostomy was performed because of excessive colonic dilation and hypomotility. Biopsies from the colon and distal ileum showed intestinal neuronal dysplasia TYPE B (INDB) with hypoganglionic areas. Colectomy and ileorectal anastomosis were done at the age of 10. Three years later, however, an ileostomy was re-established because of recurrent episodes of pseudo-obstruction. In the hope of improving intestinal motility, the dilated small intestine was tapered over its entire length of 3.6 meters. Histological findings still demonstrated oligoneuronal hypoganglionosis and INDB all along the resected strip of bowel wall. After 6 months, the stoma was closed. At the age of 15 years, tapering of the distal 80 cm of the ileum was repeated in combination with cholecystectomy for cholecystolithiasis. Intestinal transit time decreased from 55 hours before the first to 18 hours after the second tapering procedure. Now, 7 years after the last operation, the patient passes 3 - 4 soft stools daily, is physically active, on a normal diet and not on any regular medication.

Child↗
PubMed2002

[Long-term results and quality of life in patients after surgery in childhood for Hirschsprung's disease by the Kasai method of colo(ileo)rectoplasty].

BACKGROUND: Evaluation of faecal continence, education and occupation of patients operated during childhood on account of Hirschsprung's disease by Kasai's colo(ileo)rectoplasty. MATERIAL AND METHODS: Analysis of data from questionnaire, ambulatory check-up examinations and case-records of 46 patients of 109 operated in 1979-1995. RESULTS: Of 46 patients (36 men, 10 women) aged 18 to 35 years (mean age 22.5 years) 42 patients (33 M, 9 F) had the classical or long type of HD, 4 patients (3 M, 1 F) suffered from aganglionosis of the entire colon (TCA). The follow-up period after operation was 8 to 24 years (on average 13.5 years) 23 patients (50%) were quite free from complaints, 23 patients (50%) have occasional complaints: constipation 8 (14.4%), diarrhoea 5 (10.9%), soiling 20 (43.5%), abdominal pain 16 (34.8%). One patient has pain in the rectum, one female patient painful sexual intercourse, 4 (8.7%) suffer from meteorism. 6(13%) patients use laxatives, 8 (17.4%) enemas. Four (8.7%) patients were reoperated on account of residual aganglionosis. Seven (15.2%) patients had a partial sphincteromyectomy of the internal anal sphincter. Two patients had ileus with adhesion, one patient resection of a urethral stricture, one female patient with TCA total thyroidectomy on account of a medullary thyroid carcinoma. Eight (16.3%) patients have elementary education, 14 (30.4%) completed an apprenticeship, 22 (47.8%) have secondary education, 2 (4.3%) have university education. Forty four (95.6%) patients work full time. CONCLUSION: Although occasional soiling is reported by 43.5% patients, all patients evaluate their situation as good or adequate.

Adolescent↗
PubMed2002

[Uncommon clinical aspects of appendicitis].

During the period between 1980-2000 at the authors department 5114 children with acute appendicitis were operated (on average 245 per year). From this period the year 1999 was selected when 160 children were operated on account of acute appendicitis. Thirty-eight children had an advanced finding--gangrenous appendicitis or an abscess. Gangrenous appendicitis or empyema of the appendix without perforation were recorded in 16 patients (10%), gangrenous appendicitis with perforation in 9 patients (5.6%), a periappendicular abscess in 13 (8.1%), phlegmonous appendicitis was recorded in 108 patients (67.5%) and in 14 patients the histological examination revealed mesenterial lymphadenitis (8.7%). The authors demonstrate on selected case-histories the problem of appendicitis not recognized in time and appendicitis with an atypical course. They draw attention to the uncommon clinical course in 5 patients where at first a tumour of the upper mediastinum, tumour of the abdominal cavity, twice diarrhoeal disease and a tumour in the lesser pelvis was suspected. The authors emphasize that even at a time when special examinations are available (ultrasonography, computed tomgraphy) it is important to make repeated clinical examinations of the patients at least in the course of three days.

Acute Disease↗
PubMed2002

[Surgery of congenital defects--present trends].

The objective of the present work is a review of contemporary therapeutic possibilities of neonates with serious developmental defects. Neonatal surgery of congenital developmental defects was in recent decades favourably influenced by the development of neonatology and prenatal diagnosis. Nowadays prenatally diagnosed congenital anomaly is not a primary indication for termination of pregnancy but for comprehensive examination and consultation in a specialized centre. The definite decision regarding continuation of pregnancy or its termination is up to fully informed parents. In the majority neonatal surgery is not surgery of urgent operations, adequately stabilized neonates are operated while ensuring comprehensive extrasurgical care. The prognosis as regards survival and quality of life is favourable for the majority of isolated congenital defects. During the period 1994-2001 at the authors' departments a 73% survival of neonates with an isolated diaphragmatic hernia was recorded, 87% with omphalocele, 93% with gastroschisis, 90% with oesophageal atresia, 97% with anorectal atresia and 100% with intestinal atresia. With declining mortality, in the foreground of interest are problems of early definitive correction of long-term results and quality of life. With regard to the low incidence of different congenital anomalies and the contemporary birth rate in the Czech Republic its is justified to concentrate selected defects in centres which are able to provide comprehensive prenatal and early postnatal treatment.

Digestive System Abnormalities↗
PubMed2001

[Reconstruction of the diaphragm with a polytetrafluoroethylene patch in neonates with congenital diaphragmatic hernia].

The authors present their experience with the reconstruction of the diaphragm with a synthetic polytetrafluoroethylene patch in a group of 66 neonates with a congenital diaphragmatic hernia. After preoperative stabilization 53 neonates (80%) were operated, simple reconstruction of the diaphragm was made in 39 neonates (74%), reconstruction of the diaphragm with a polytetrafluoroethylene patch was indicated in 14 patients (26%). Nine patients recovered after reconstruction of the diaphragm by a synthetic patch without complications. The only relapse of diaphragmatic hernia when using a patch was recorded in a neonate with a bilateral diaphragmatic hernia, sternal cleft and omphalocele. After simple reconstruction of the diaphragm there was no relapse of hernia. The total mortality in the group was 27% (18 neonates). After surgery five neonates died. Two of them died of serious haemorrhagic complications during extracorporeal membrane oxygenation and three died after operations performed at borderline oxygenation and ventilation values and subsequent deterioration of the general condition. In four of them a polytetrafluoroethylene patch (GORE-TEX) was used. Reconstruction of the diaphragm by a polytetrafluoroethylene patch is a suitable surgical method in the treatment of neonates with a congenital diaphragmatic hernia. Indication for the use of a patch is agenesis of the diaphragm and major diaphragmatic defects with hypoplastic borders. The use of a non-absorbable synthetic patch is from the aspect of the long-term effect on growth and the development of skeletal deformities equivocal and will call for further detailed studies.

Diaphragm↗
PubMed2001

[Treatment of hypospadias in childhood].

The aim of the paper is to compare different techniques of correction of hypospadias with the author's own group of patients and to compare the results with those achieved at other departments. Between 1992-1999 at the Department of Paediatric Surgery, Teaching Hospital Motol 348 operations were made in 219 boys. A plastic operation with a distal shift of the urethra a and conization of the glans in 112 patients predominated. Other methods included in 39 patients the creation of a ventral circumference of the urethra from the inner laver of the prepuce while preserving the urethral plate ("onlay island flap") and a parameatally everted flap according to Mathieu in 11 patients. A plastic operation by complete tubulization of the inner laver of the prepuce was used in 19 patients, in 2 boys the method of Duplay-Byars tubulization of the urethral plate. In one patient the urethra was replaced by a free flap as described by Nove Josserand. Another 129 operations included formerly used and now abandoned two-stage operations to straighten the penis, operations to reconstruct the prepuce and operations on account of complications. The latter comprised 16.4% fistulae, 9.58% dehiscences and 1.36% strictures.

Child↗
PubMed1999

[Feminizing genital plasty in patients with intersexuality].

Feminizing genitoplasty (FGP) involves modification of a hypertrophic clitoris, vaginoplasty, and modelling of the labia. FGP is performed during childhood and usually in one stage. In 1996-1999 30 patients with intersex were operated on. 25 girls with female pseudohermaphroditism caused by congenital adrenal hyperplasia (CAH), 3 patients with mixed gonadal dysgenesis (MGD), 1 patient with male pseudohermaphroditism and one female patient with true hermaphroditism (HFV). Seventeen patients were between the ages of 3 and 6 years, 13 patients (all female with CAH) were 13 to 21 years old. One-stage FGP, i.e. partial resection of the clitoris and vaginoplasty (VP) was performed in 11 patients. A two-stage operation, i.e. partial resection of the clitoris and subsequent vaginoplasty, was done in 3 patients (all with VHN with a high-orifice vagina). Vaginoplasty after excision of the clitoris was made in 13 patients (all with CAH, 5 of them with a high-orifice vagina). Three female patients (2 VHN, 1 HFV) had partial resection of the clitoris and wait to have VP. Fourteen patients with partial resection of the clitoris healed p.p. Healing p.s. was recorded in 5/27 patients with vaginoplasty (all CAH). Three of them were older, menstruating and obese. In 4/14 patients after partial resection of the clitoris both modelling and fixation of the glans clitoridis was necessary. Urinary incontinence was not recorded. Stricture of the vaginal orifice was found in one 6-year-old patient with CAH after reconstruction of a high-orifice vagina. Thirteen older patients have a normal vaginal orifice, two of them have sexual intercourse. FGP can be performed already at toddler age, the cosmetic effect is favourable, the glans clitoridis is preserved and the psychosexual development of patients is not impaired. FGP can be used also in adults, severely virilized patients.

Child↗