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PubMed1999

Does probiotics administration decrease serum endotoxin levels in infants?

PURPOSE: The aim of this study was to examine whether administration of probiotics to infants can change the ratio of intestinal flora and thereby decrease serum endotoxin produced by potentially pathogenic microorganisms. METHODS: Nine infants including five with of biliary atresia, two with omphalocele, one each with Hirschsprung's disease and imperforate anus were studied. All patients were stable, and no antibiotics were given during this study. A probiotic mixture consisting of Streptococcus faecalis, Clostridium butyricum and Bacillus mesentericus was administered orally to each infant at 2 g/day for 2 weeks. Fecal aerobic and anaerobic bacterial cultures, serum endotoxin level, and other biochemical parameters were examined. RESULTS: In fecal cultures, anaerobic bacteria including Bifidobacterium increased significantly whereas Escherichia coli, Streptococcus, and Klebsiella tended to decrease. The ratio of anaerobic to aerobic bacteria increased five times as a result of administration of probiotics, and serum endotoxin levels decreased. CONCLUSIONS: Probiotics affect intestinal bacterial flora by increasing anaerobic bacteria and decreasing the population of potentially pathogenic microorganisms. A decrease in luminal endotoxin may result in less endotoxin translocation or bacterial translocation.

Administration, Oral↗

PubMed1979

The spectrum of the DiGeorge syndrome.

Clinical and autopsy data on 25 patients with DiGeorge syndrome and its variants are presented. Congenital heart disease was the most common presenting complaint; 15 patients came to medical attention in the first 48 hours of life because of cyanosis, cardiac murmurs, or tachycardia and tachypnea. Two unusual anomalies, interrupted aortic arch or truncus arteriosus, were seen in 17 patients. Clinically documented hypocalcemia associated with seizures was seen in ten patients, with a median age at onset of eight days. Fifteen of our 25 patients died at less than one month of age. Most of the patients surviving the first month of life developed purulent rhinitis, maculopapular rashes, failure to thrive, and developmental delay. Sixteen patients had major congenital anomalies not localized to the anterior neck and thorax; these anomalies included arhinencephaly, cleft lip, palate, or uvula, diaphragmatic abnormalities, hydronephrosis, malrotation of the gut and imperforate anus. The 24 autopsied cases constitute 0.7% of the 3,469 sequential postmortem studies done in the period 1950--1975 at The Children's Orthopedic Hospital and Medical Center.

Autopsy↗

PubMed1991

The use of intravesical oxybutynin chloride in children with neurogenic bladder.

Intravesical oxybutynin chloride was administered to 10 children with neurogenic bladder (myelomeningocele in 9 and imperforate anus in 1) and urinary incontinence refractory to regimens of intermittent catheterization and oral anticholinergic medication. Therapy consisted of instillation of 5 mg. crushed oxybutynin chloride in 10 cc sterile saline twice daily. Of the children 5 (50%) became completely dry day and night, 3 (30%) achieved daytime continence alone, and 2 did not improve clinically and remained in diapers. Urodynamic study revealed increases in bladder capacity up to 335% over baseline and decreases of maximum filling pressures to 63%. No local or systemic side effects were noted. Surgical bladder augmentation was avoided in those who clinically responded to this therapy.

Administration, Intravesical↗

PubMed1986

Large prostatic utricles and related structures, urogenital sinus and other forms of urethrovaginal confluence.

The urethrograms and clinical records of 106 children with a large prostatic utricle or related structures, urogenital sinus in intersex disorders and other types of urethrovaginal confluence were reviewed. There were 27 boys with normal external genitalia, 19 cases of male hypospadias, 1 case of male pseudohermaphroditism, 7 cases of mixed gonadal dysgenesis, 1 case of true hermaphroditism, 32 cases of female pseudohermaphroditism, 11 normal girls with urethrovaginal confluence and 8 cases of cloacal malformation. Among the patients of the first 2 groups 10 had an imperforate anus, 7 the prune belly syndrome, 6 Down's syndrome and 2 posterior urethral valves.

Abnormalities, Multiple↗

PubMed1977

Variations in the bladder exstrophy complex associated with large omphalocele.

Two newborns with a large omphalocele associated with the bladder exstrophy complex are presented. In 1 case the omphalocele was combined with a musculoskeletal defect and imperforate anus with an anovulvar fistula. The other patient had a musculoskeletal deformity and a duplicated bladder with exstrophy. Surgical treatment was successful in both cases.

Bladder Exstrophy↗

PubMed1977

Embryologic considerations of diphallus and associated anomalies.

Two patients, 1 adult and 1 infant, with complete duplication of the penis are described. The adult had a single bladder, a bifid scrotum, a low abdominal wall hernia, separation of the symphysis pubis, bilateral inguinal hernias, rectal prolapse, bilateral vesicoureteral reflux and bilateral staghorn calculi. The infant had duplication of the bladder, hypoplasia of the left kidney, lumbosacral anomalies, a hypoplastic left lower extremity, an imperforate anus, a infraumbilical wall hernia and separation of the symphysis pubis. A survey of the anomalies accompanying the 2 main types of diphallus (shaft and glans, and glans alone)showed that there was a preponderance of anomalies of posterior structures such as colon, bladder and spine in the shaft and glans diphallus, and a higher incidence of isolated exstrophy of the bladder in diphallus of the glans alone. The embryogenic implications of these findings are discussed.

Abnormalities, Multiple↗

PubMed1975

Tubular duplication of the rectum with a rectourethral fistula.

An infant with pneumaturia and fecaluria was found to have a rectal duplicatation with a fistula between the duplicated rectum and the urethra. Rectal duplication, although rare, should be considered in cases of bizarre lower bowel symptoms in children. Correction in our case was effected by exclusion of the duplicated segment along with removal of its mucosal lining and division of its urethral fistula. The termination of the duplicated rectum in the urinary tract, as in cases of imperforate anus, suggests a related embryologic mechanism for the 2 types of anomalies.

Colon↗

PubMed2002

Hydramnios: anomaly prevalence and sonographic detection.

OBJECTIVE: To characterize the prevalence and ultrasound detection of fetal anomalies in pregnancies with hydramnios, and to estimate anomaly and aneuploidy risks when no sonographic abnormality is noted. METHODS: This was a retrospective cohort study of singleton pregnancies with hydramnios. Hydramnios was categorized as mild, moderate, or severe based on greatest amniotic fluid index of 25.0-29.9 cm, 30.0-34.9 cm, or 35.0 cm or more, respectively. Antenatal anomaly detection was compared with assessment in the immediate neonatal period. Aneuploidy and fetal deaths were analyzed separately. RESULTS: Hydramnios was diagnosed in 672 pregnancies, and 77 (11%) of neonates had one or more anomalies. Though more severe hydramnios was associated with higher likelihood of anomaly (P <.001), sonographic anomaly detection (79%) did not differ according to degree of hydramnios (P =.4). Of anomalies which eluded sonographic diagnosis, cardiac septal defects, cleft palate, imperforate anus, and tracheoesophageal fistula were the most frequent. If sonographic evaluation was normal, the risk of a major anomaly was 1% with mild hydramnios, 2% with moderate hydramnios, and 11% with severe hydramnios (P <.001). Aneuploidy was present in 10% of fetuses with sonographic anomalies and 1% without apparent sonographic anomalies. The fetal death rate was 4% in the setting of hydramnios; 60% of these cases had anomalies. CONCLUSION: The anomaly detection rate in pregnancies with hydramnios was nearly 80%, irrespective of the degree of amniotic fluid increase. Residual anomaly risk after normal sonographic evaluation was 2% or less if hydramnios was mild or moderate and 11% if severe.

Adult↗

PubMed2003

Risk factors for spontaneous bladder perforation after augmentation cystoplasty.

OBJECTIVES: To present our experience with the use of stomach, ileum, and colon for augmentation cystoplasty to examine the incidence of, and risk factors for, spontaneous perforation. Spontaneous bladder perforation is a potentially life-threatening complication of augmentation cystoplasty with a reported incidence of up to 13%. METHODS: A retrospective review of medical records from 1988 to 2001 identified 107 children (57 males and 50 females) who underwent augmentation cystoplasty at our institution. The etiology for bladder dysfunction included myelomeningocele, VATER (vertebral defects, imperforate anus, tracheoesophageal fistula, radial and renal dysplasia) syndrome, bladder and cloacal exstrophy, posterior urethral valves, and pelvic malignancy. Thirteen patients also had end-stage renal disease. RESULTS: The median follow-up was 7.4 years. Gastrocystoplasty was performed in 50 children (47%), ileocystoplasty in 37 (35%), colocystoplasty in 18 (17%), and gastric-ileal composite neobladder in 2 (2%). Augmentation cystoplasty procedures were performed using a standard technique that included a two-layer anastomosis. Additional procedures at the time of reconstruction included Mitrofanoff neourethra in 66 patients (62%) and bladder neck repair in 44 (41%). Postoperatively, most patients started a strict incremental catheterization regimen. The overall incidence of bladder perforation was 5%, with one traumatic (1%) and four spontaneous (4%) perforations. All patients recovered uneventfully after exploratory laparotomy. CONCLUSIONS: We believe that the relatively low incidence of spontaneous bladder perforation encountered in this series may be explained by the large number of patients with gastrocystoplasty, as well as our strict adherence to a postoperative incremental catheterization program.

Adolescent↗

PubMedDate not supplied

Historical landmarks in operations on the colon--surgeons courageous.

PURPOSE: The nearly 300-year history of surgery of the colon is replete with creative daring among surgeons who conquered the challenges of operating on this highly contaminated organ, housed in the sacrosanct peritoneal cavity. METHODS: Alexis Littre's suggestion in 1710 that a colostomy may be successful in treating an infant with imperforate anus began an evolutionary process of extraperitoneal colostomy for obstructing carcinomas, and then, an intraperitoneal approach, which enhanced surgical evaluation of the tumor and optimal placement of the stoma. Reybard's introduction of sigmoid resection in 1823, followed by post-Lister contributions of Mickulicz, Paul, Murphy, Miles, Hartmann, and other 19th- and early 20th-century surgeons, paved the way for current successes in colon surgery. RESULTS: The morbidity and mortality, which still accompanies surgery on the colon, often results from a failure of today's surgeon to apply those principles so meticulously documented by colon and rectum surgery historians. CONCLUSIONS: The individual, who performs a Miles abdominoperineal resection, a Hartmann procedure, or any other of the classic operations on the colon, gains much by studying the original philosophy and technique of these pioneers in the field.

Journal Article↗

PubMed2002

Developmental toxicity of N-methyl-2-pyrrolidone administered orally to rats.

The developmental toxicity of N-methyl-2-pyrrolidone (NMP) was studied in Sprague-Dawley rats after oral administration. Pregnant rats were given NMP at doses of 0 (distilled water), 125, 250, 500, and 750 mg/kg/day, by gavage, on gestational days (GD) 6 through 20. Significant decreases in maternal body weight gain and food consumption during treatment, and a reduction in absolute weight gain were observed at 500 and 750 mg/kg. The incidence of resorptions per litter was significantly higher than control at 500 mg/kg, and rose to 91% at 750 mg/kg. Examination of the foetuses revealed treatment-related malformations, including imperforate anus and absence of tail, anasarca, and malformations of the great vessels and of the cervical arches. The incidence of malformed foetuses per litter, and of litters with malformed foetuses was significantly increased at 500 and 750 mg/kg. At 250 mg/kg, one foetus showed malformations similar to those recorded at higher dosages. There was a dose-related decrease in foetal body weights (male, female, and total) that reached statistical significance at 250 mg/kg. A significant increase in incomplete ossification of skull bones and of sternebrae was also present at 500 and 750 mg/kg. In summary, the no-observed-adverse-effect level (NOAEL) for maternal and developmental toxicity was 250 and 125 mg/kg/day, respectively. Thus, oral administration of NMP produced developmental toxicity below maternally toxic levels.

Abnormalities, Drug-Induced↗

PubMed2000

Neonatal neoplasms.

PURPOSE: To describe neoplasms diagnosed in children </= 28 days of age along with their treatment, associated congenital anomalies, and the long-term consequences of the diagnoses and treatments. METHODS AND MATERIALS: Utilizing autopsy records, a computerized tumor registry, and medical records, we identified patients and stillborns at Duke University Medical Center (DUMC) diagnosed with neoplasms at </= 28 days of age between 1930 and 1998. RESULTS: Twenty-three neonates with neoplasms were identified. There were 7 males (30%) and 16 females (70%). Follow-up of survivors ranged from 4 months to 27 years (mean 9 years). The 20 patients identified via the computerized registry system for 1980-1998 constitute 2% (20/925) of all neoplasms seen in patients </= 16 years of age over this same time period at DUMC. The histologic diagnoses were teratoma/germ cell tumor (n = 8, 35%), neuroblastoma (n = 5, 22%), retinoblastoma (n = 4, 17%), primary central nervous system (CNS) tumor (n = 3, 13%), and one case each of rhabdomyosarcoma, glossal glial choristoma, and hemangioma in the setting of Kasabach-Merritt Syndrome. Of the eight teratoma/germ cell tumor patients, 6 were female (75%) and 2 male (25%). There was one malignant germ cell tumor, 2 immature teratomas, and 5 teratomas. Two of the seven patients with immature teratomas or teratoma were long-term survivors following surgery. The one patient with malignant germ cell tumor, treated with surgery and chemotherapy, died. Associated anomalies were imperforate anus, congenital absence of a limb, left ventricular hypertrophy, fusion or absence of toes, coarctation of the aorta, and pulmonary valve dysplasia. Of the five children with neuroblastoma, 4 were female. INSS Stages were 1 (n = 1), 2A (n = 1), 3 (n = 1), and 4S (n = 2). Two were treated with surgery + chemotherapy + radiotherapy; two with surgery + chemotherapy; and one with surgery alone. Four children are long-term survivors. Associated congenital anomalies and medical problems were ventricular septal defect, seizure disorder, and Fanconi's anemia. A child with a dumbbell neuroblastoma, treated with surgery and chemotherapy, is paraplegic. Of the four children with retinoblastoma, two were female. Two had trilateral disease and two bilateral. Three of the four had a family history of retinoblastoma. The two children with trilateral retinoblastoma died after therapy with surgery, craniospinal and orbital irradiation, and chemotherapy. Two children with bilateral disease are long-term survivors: one treated with radiotherapy + chemotherapy and one with radiotherapy alone. They have marked orbital bone growth abnormalities. The three patients with CNS tumors were female. The histologies were glioblastoma multiforme, anaplastic astrocytoma, and malignant mixed oligodendroglioma. Two of the patients are long-term survivors after surgery + chemotherapy. Six children received eight courses of radiation therapy: 2 for Stage 4S neuroblastoma with respiratory compromise from an enlarging liver and 4 for retinoblastoma. The two infants with trilateral retinoblastoma received two courses of irradiation each: one of the treatment of intraocular tumor and a second, at an older age, for the pineal tumor. The most serious complication of anesthesia was a case of enterobacter cloacae sepsis in the central venous access line used for repetitively administering the anesthetic. CONCLUSION: The most common neonatal neoplasm histologic diagnoses are teratoma/germ cell tumor, neuroblastoma, and retinoblastoma. Neonatal neoplasms may be associated with congenital anomalies. Radiation therapy is administered infrequently in a population highly susceptible to late ill effects. When radiotherapy is required, anesthesia may be repetitively administered to aid in reproducible treatment.

Anesthesia↗

PubMedDate not supplied

Retinoic acid-induced caudal regression syndrome in the mouse fetus.

Caudal regression syndrome (CRS) comprises developmental anomalies of the caudal vertebrae, neural tube, urogenital and digestive organs, and hind limbs, the precursors of all of which are derived from the caudal eminence. Although the syndrome is well recognized, the etiology and pathogenetic mechanisms are poorly understood. Genetic and experimental models may provide some important clues to the early events that precede the dysmorphogenesis in CRS. The objectives of this study were to determine the susceptible stages for induction of CRS and to ascertain the early events that precede the development of this syndrome in a mouse model. Single oral doses of 100, 150, or 200 mg/kg retinoic acid (RA) were administered to TO mice on one of Gestation Days (GD) 8 to 12, and fetuses were observed on GD 18. All doses administered on GD 8 or 9 resulted in CRS in a large number of survivors. Agenesis of the tail, caudal vertebral defects, spina bifida occulta/aperta, imperforate anus, rectovesicle or rectourethral fistula, renal malformations, cryptorchidism, gastroschisis, and limb malformations, including the classical mermaid syndrome (sirenomelia), were characteristic features of this animal model. Several craniofacial malformations accompanied CRS in the GD 8 treatment group. Chronologic examination of treated embryos at early stages revealed pronounced cell death in the caudal median axis, hindgut, and neural tube and consequently, failure of development of the tail bud in the high-dose groups. In the 100 mg/kg RA group, patches of hemorrhage occurred initially that subsequently coalesced into large hematomas and the tail progressively regressed. Histologic examination revealed the onset and progression of hemorrhage, edema, and cell death in these embryos. Transillumination and histologic preparations also revealed dilation of the caudal neural tube in the prospective CRS embryos. Thus, a combination of cell death, vascular disruption, and tissue deficiency appears to be the highlight of caudal regression in this model. Symmelia appeared to be due to failure of fission or due to the merger of limb fields rather than a result of fusion of two limb buds. The data are also indicative of caudal agenesis in the high-dose RA groups and caudal regression due to a combination of vascular disruption, edema, and cell death in the lower dose groups of TO mouse embryos.

Abnormalities, Drug-Induced↗

PubMed1999

New' manifestations of BOR syndrome.

Defined in 1975, branchio-oto-renal (BOR) syndrome is an autosomal dominant disorder consisting of branchial arch anomalies, hearing loss, and urinary tract malformations. It is the prototype of the non-chromosomal syndromes that have branchial arch anomalies as major clinical manifestations: BOR, branchio-otic (BO), branchio-otic-facial (BOF), and Townes-Brock syndromes. Subsequently, several clinical manifestations have expanded its phenotype. Retrospective analysis of 31020 families evaluated between January 2, 1982 and December 31, 1996 at the genetic clinics of the University of South Florida, showed seven probands with BOR/?BOR syndrome. Four of the probands and affected relatives had manifestations that further expanded the phenotype: gustatory lacrimation, hypospadias, imperforate anus, osteosclerosis, microcephaly, hypodontia, congenital vocal cord paresis, and congenital incomplete fixation of the transverse colon. Thus, BOR/ ?BOR syndrome appears to be a clinically and genetically heterogeneous multiorgan/system entity that manifests itself predominantly during organogenesis. Clinicians and researchers alike should be cognizant of the expanded phenotype and heterogeneity, while in the DNA laboratories the latter will be sorted out.

Adult↗

PubMed1997

Opitz G/BBB syndrome, a defect of midline development, is due to mutations in a new RING finger gene on Xp22.

Opitz syndrome (OS) is an inherited disorder characterized by midline defects including hypertelorism, hypospadias, lip-palate-laryngotracheal clefts and imperforate anus. We have identified a new gene on Xp22, MID1 (Midline 1), which is disrupted in an OS patient carrying an X-chromosome inversion and is also mutated in several OS families. MID1 encodes a member of the B-box family of proteins, which contain protein-protein interaction domains, including a RING finger, and are implicated in fundamental processes such as body axis patterning and control of cell proliferation. The association of MID1 with OS suggests an important role for this gene in midline development.

Abnormalities, Multiple↗

PubMed2001

Partial monosomy 10q with partial trisomy 11q due to paternal balanced translocation.

A male neonate with partial monosomy 10q and partial trisomy 11q, due to paternal balanced translocation, and who had cerebellar and olfactory lobe hypoplasia, cardiovascular defects, duodenal atresia and imperforate anus, is presented. To the best of our knowledge, this is the first report on this combination of chromosomal abnormalities.

Abnormalities, Multiple↗

PubMed1996

The pathogenesis of cryptorchidism and splenogonadal fusion: a new hypothesis.

OBJECTIVE: To obtain new information about the pathogenesis of cryptorchidism. MATERIALS AND METHODS: Published reports of 111 males with splenogonadal fusion were examined and the presence and type of cryptorchidism and the degree of continuity between the spleen and gonads determined. RESULTS: Of the 111 cases, 31% had cryptorchidism and of these 59% were bilaterally cryptorchid; 26% and 65% had right and left intra-abdominal testes, respectively. Of those with continuous splenogonadal fusion, 44% had cryptorchidism. Solely cryptorchid cases with splenogonadal fusion had reported bilateral absence of both legs, imperforate anus, spina bifida, diaphragmatic hernia and hypospadias. CONCLUSION: An hypothesis is proposed that the abnormal development of the diaphragmatic ligaments of the testes may lead to lack of their involution, with consequent cryptorchidism. In the case of splenogonadal fusion, the abnormal ligaments are colonized by splenic cells, possibly because of an abnormal proximity to the splenic anlage, with the resulting abnormal ligament persisting as the splenic cord and thus resulting in cryptorchidism. The basic abnormality may be in the connections of the diaphragmatic ligaments, caused by abnormal midline development in the third to fourth week of gestation.

Cryptorchidism↗

PubMed2000

Cloacal and urogenital malformations in adriamycin-exposed rat fetuses.

OBJECTIVES: To determine the spectrum of cloacal and urogenital malformations in rat fetuses prenatally exposed to adriamycin, which causes abnormalities that strongly resemble the VATER association (vertebral defects, anal atresia, tracheo-oesophageal fistula with oesophageal atresia, renal defects and radial limb dysplasia) in humans, and to evaluate how closely such anomalies resemble those seen in humans. MATERIALS AND METHODS: Timed-pregnant rats were injected intraperitoneally with adriamycin at 6-9 days of gestation; a control group received saline only. Fetuses (35 treated and 30 control) were recovered at 21 days of gestation, and examined macroscopically and microscopically for cloacal and urogenital abnormalities. RESULTS: All the treated fetuses had no bladders and severe hydroureter/hydronephrosis on one or both sides. Male fetuses had a proximal blind-ending urethra communicating with dilated ureters and giving rise to vasa. Female fetuses had a persistent urogenital sinus communicating with the ureters and cervix/uterus; 57% of the treated group had an imperforate anus and some had recto-urethral fistulae (males) or recto-urogenital fistulae (females). CONCLUSION: Rat fetuses exposed to adriamycin have a spectrum of cloacal and urogenital anomalies (predominantly no bladder) which is more severe than those of the human VATER association. Nonetheless, this is an excellent animal model for the study of genitourinary embryology, especially bladder development.

Abnormalities, Drug-Induced↗