Type Of Atresia Research Articles

A 17q12 chromosomal duplication associated with renal disease and esophageal atresia

Chromosomal imbalance of the 17q12 region (which includes the HNF1B transcription factor) has recently emerged as a frequent condition. 17q12 deletion was found in patients with various renal abnormalities, diabetes mellitus (MODY type 5), genital tract or liver test abnormalities, while 17q12 duplication was identified in a subset of patients with autism, mental retardation, epilepsy and/or schizophrenia but no renal disorder. We report here two first-degree relatives carrying a 17q12 duplication and harboring various renal abnormalities (bilateral hypoplastic kidneys with vesico-ureteric reflux or multicystic dysplatic kidney with contralateral hyperechogenic kidney). Esophageal atresia (EA) type C was identified at birth in one patient while none had neurological disorder. Because EA has already been identified in patients with 17q12 duplication or HNF1B point mutation, we screened HNF1B (QMPSF and direct sequencing) in nine additional patients with EA and renal abnormalities but failed to identify any pathogenic variant. This is the second report of HNF1B mutation associated with EA. Moreover, we showed herein, that renal malformations may be part of the 17q12 duplication syndrome.

Atrezija kolona sa intrauterinom torzijom

A full-term male newborn, birth weight 2500 grams. The antenatal ultrasound screening aroused the suspicion of intestinal obstruction, because of bowel dilatation and polyhydramnions (Figure a). Since no meconium was passed, contrast enema examination was performed and the diagnosis of intestinal atresia confirmed, so the decision was made to perform the operation (Figure b). Intraoperatively, colonic atresia type III was found, on the level of the hepatic flexure, with torsion and gangrenous change on the atretic colon (Figure c). We performed a right hemicolectomy with end-to-side ileocolic anastomosis (Figure d). Six months after the operation, the newborn had normal body mass gain and no gastro-intestinal symptoms. Congenital colonic atresia is the rarest cause of intestinal atresias, occurring in 1: 20,000 neonates. It mainly occurs in term neonates without any other associated pathology. The aetiology of simple colon atresia is probably in utero compromised blood supply to the colon. Antenatal ultrasound screening may alert the neonatologist to the presence of bowel dilatation, but definite diagnosis is made by post-partum contrast enema examination. There are three types of colonic atresia. Type I includes mucosal atresia with an intact bowel wall and mesentery. In type II, the atretic bowel ends are connected by a fibrous cord. In type III, the atretic ends are separated by a V-shaped mesenteric gap. The clinical picture of the colonic atresia is characterized by abdominal distension, bilious emesis, and failure to pass meconium. Diagnosis is established by abdominal ultrasound, plane radiography and contrast enema examination. The treatment is surgical, and the selected method is primary anastomosis.

Hétérotopie pancréatique associée a une dilatation kystique du cholédoque. À propos d’un cas

Pancreatic heterotopia or aberrant pancreas is a rare congenital anomaly, usually asymptomatic. Its diagnosis is difficult. We report an original observation in an 8-month-old infant, operated in the neonatal period for esophageal atresia type III in the context of VACTERL syndrome, cystic dilatation of the bile duct, and pancreatic heterotopia.

High Incidence of Hiatal Hernia in Esophageal Atresia and Its Etiologic Factors

【Hiatal hernia is a very rare disease in the pediatric population. However information from our esophageal atresia postoperative follow-up program has hypotheses; Hiatal hernia may more frequently occur in postoperative esophageal atresia patients (EA than in the general pediatric population (GP group) and tension on the esophagus after esophageal anastomosis may be an important etiologic factor of hiatal hernia in EA To prove the first hypotheses, we compared the incidence of hiatal hernia in the GP group with the incidence in the EA group. The Incidence in the GP group was obtained from national statistic data from Statistics Korea and Health Insurance Review and Assessment Service of Korea. The incidence in the EA group was obtained from the medical record and the imaging studies of our esophageal atresia postoperative follow-up program. To prove the second hypothesis, the presumptive risk factors for the development of hiatal hernia in EA group, such as the type of esophageal atresia, degree of esophageal gap, the stage operation and the redo-operation with resection and re-anastomosis of esophagus were analyzed statistically. The total number of patients in the EA group was ninety-nine and there were 5 hiatus hernias. The incidence of EA group (5 %) is significantly higher than incidence of GP group (0.024 %). (p=0.0001) The statistical analysis of the presumptive risk factors for hiatal hernia development in EA group failed to show any evidence of correlation between postoperative esophageal tension and the hiatal hernia. This study shows that the postoperative patients with esophageal atresia have high occurrence of hiatal hernia and should be followed up carefully to detect hiatal hernia.】

Gastric serosal tear due to congenital pyloric atresia: A rare anomaly, a rare complication

Congenital pyloric atresia (CPA) is a very rare malformation with unknown aetiology. It has has numerous complications including gastric perforation, aspiration pneumonia. Gastric perforations in newborns occur by three mechanisms: trauma, ischaemia, or spontaneous. Here, we report a newborn with CPA presenting with gastric serosal tearing without full-cut gastric perforation. The diagnosis was confirmed with the help of plain abdominal radiograph, ultrasound, contrast-study, and at operation. Treatment of CPA is surgery irrespective of the type of atresia. We performed serosa repair and then the solid, cord-like atretic pylorus was excised with accompanying gastroduodenostomy. Our patient had an uneventful course and was discharged at the end of the second postoperative week.

Management of jejunoileal atresias: an experience at eastern Nepal

BackgroundIntestinal atresia is a common cause of neonatal intestinal obstruction, and management of this disease in limited setup of a developing country is very difficult.MethodsThis study is a retrospective study of patients with jejunoileal atresias and their postoperative outcome in a teaching hospital in eastern Nepal over a 5-year period.ResultsThere were 28 children (19 boys and 9 girls). 11 children (39.28%) had jejunal atresia and 17 (60.71%) had ileal atresia. Eight (28.5%) patients died, 6 were jejunal atresia (54.5%) and 2 were ileal atresia (11.7%). The most common cause of death was sepsis which occurred in 7 out of 8 cases (87.5%). The risk factors for mortality identified were leucopenia, neutropenia, delay in surgery, location of atresia and type of atresia. Jejunal atresia tended to have a higher mortality than ileal atresia, and severe types of atresia (type IIIb and IV) were more often associated with mortality than other types of atresia. The significant differences between jejunal and ileal atresia were the increased duration between presentation and surgery, longer postoperative and total hospital stay, presence of more severe atresias and an increased risk of mortality in case of jejunal atresias.ConclusionThe prognosis for this disease have definitely changed in the last few decades in developed countries but in our environment, problems like late presentation and diagnosis, lack of availability of good neonatal intensive care units and parenteral nutritional support still prevail.

Valoración del estado nutricional en los pacientes afectos de atresia de esófago

Objective The aim of the study was to find out whether patients who underwent esophageal atresia (EA) surgery suffered from nutritional problems, to compare the nutritional status of these patients with a control group, and to determine if there is a relationship between the type of atresia and the nutritional condition. Material and methods We selected 25 patients out of a total of 32 who underwent EA surgery in our hospital from 2000 to 2006. A retrospective was conducted study based on the information obtained from the medical histories. A case-control study was also carried out by selecting a control group from a randomized population. Results The analyses performed showed that the mean weight and height Z-score was always negative, but not below −2 SD. There was a significant decrease in the weight Z-score between 3 and 9 months and in the weight/size Z-score between 3 and 24 months. Significant differences in weight and size Z-score were found between cases and controls, but not in skin-fold thickness. Independently of the type of atresia and the presence or not of congenital heart defects, no significant differences were found. Conclusions There are significant differences in the weight and height Z-score between cases and controls. We stress the need to be aware of the nutritional status in order to prevent changes that could lead to a further deterioration of the patient.

Zarośnięcie nozdrzy tylnych w materiale kliniki

Choanal atresia is a rare congenital disease, it occurs in 1/8000 live newborns. retrospective review of patients with choanal atresia treated at the Department of Pediatric Otolaryngology of Medical University in Lublin. Twenty-two children were evaluated, 16 females, 6 males, age range from 6th day to 11th year of life, operated between 2004 and 2009. We analized: age of the parents, mothers diseases during pregnancy, place of live, type of atresia, associated abnormalities, age of children at time of surgery, results of treatment. The age of parents didn't differ significantly from the mean age of parents of children without abnormality. Choanal atresia was bilateral in 10 patients (45%), unilateral in 12 cases (55%)--right-sided in 75% and left-sided in 3 children. The membranous barrier was stated in 60.7%, bone in 25%, and mixed in 14.7%. Choanal atresia was an isolated disease in 12 patients, and in 10 it was associated with other abnormalities. The most common were: central nervous system abnormalities (5 children), heart defect (5), facial dysmorphy (4), hearing loss only in 2 cases. All patients were operated with transnasal technique with stents placement for 6-8 weeks period. The necessity of repleacing the stents occurred in 4 patients because of tendency of the granulation. These problems were absent in patients who were operated during the newborn period. Undoubtedly, the transnasal technique is a procedure by choice, decision, to place a stent or not, depend on the experience of the surgeon and his/her own results.

Anastomotic stricture after surgical repair of esophageal atresia: frequency, risk factors, and efficacy of esophageal bougie dilatations

Aims The aim of this study was to evaluate the frequency and risk factors of postoperative anastomotic stricture, and the efficacy and complications of esophageal bougie dilatations for symptomatic anastomotic stricture in a population of children with esophageal atresia. Patients and Methods The medical records of 62 children operated on for esophageal atresia type III (Ladd and Gross) over a 5-year period were retrospectively reviewed. Results Anastomotic stricture developed in 23 (37%) of patients. Anastomotic tension during primary repair of esophageal atresia was associated with subsequent stricture formation ( P < .05). Patients required esophageal dilation at a mean age of 149 days (range, 30-600 days). Stricture resolution occurred after a mean of 3.2 dilatations per patient (range, 1-7). Dilation was successful in 87% of patients. Three patients continued to present mild (n = 1) to severe (n = 2) dysphagia, mainly related to esophageal dysmotility. No complications were observed during or after the dilatation sessions. Conclusions Anastomotic stricture, secondary to the surgical treatment of esophageal atresia, remains a frequent complication in patients with esophageal atresia. Esophageal dilation with Savary-Gilliard bougies is a safe and effective procedure in the management of strictures.

Degeneration of germ line cells in amphibian ovary

AbstractOgielska, M., Rozenblut, B., Augustyńska, R., Kotusz, A. 2010. Degeneration of germ line cells in amphibian ovary. —Acta Zoologica (Stockholm) 91: 319–327We studied the morphology of degenerating ovarian follicles in juvenile and adult frogs Rana temporaria, Rana lessonae and Rana ridibunda. Degeneration of primordial germ cells was never observed and was extremely rare in oogonia and early oocytes in a cyst phase in juveniles. Previtellogenic oocytes were rarely affected. Three main types of atresia were identified. In type I (subdivided into stages A–D), vitellogenic oocytes are digested by proliferating follicle cells that hypertrophy and become phagocytic. A – germinal vesicle shrinks, nucleoli fuse, oocyte envelope interrupts, and follicular cells hypertrophy; B – follicular cells multiply and invade the oocyte; C – entire vesicle is filled by phagocytic cells; D – degenerating phagocytes accumulate black pigment. Type II is rare and resembles breakdown of follicles and release of ooplasm. In type III, observed in previtellogenic and early vitellogenic oocytes, ooplasm and germinal vesicle shrink, follicle cells do not invade the vesicle, and condensed ooplasm becomes fragmented. The residual oogonia in adult ovaries (germ patches) multiply, but soon degenerate.

Double Aortic Arch with Aortic Atresia and Left-Sided Type B Interruption

Aortic valve atresia with interruption of the aortic arch is an extremely rare anomaly; only eleven cases of this anomaly have been reported to date. In the absence of additional sources of blood flow to the ascending aorta, aortic valve atresia with interruption of the aortic arch is fatal. We present, to the best of our knowledge, the first case of a live birth with aortic valve atresia and interrupted left aortic arch (type B) without evidence of an aorticopulmonary communication or ductal supply to the native ascending aorta. Instead, blood flow to the native aortic root was derived from a persistent right embryonic dorsal aorta.

Ileal Atresia with Meconium Peritonitis: Fetal MRI Evaluation

We report a case of ileal atresia with meconium peritonitis evaluated by fetal MRI. Prenatal ultrasounds in the third trimester initially demonstrated a cystic abdominal mass that resolved with development of dilated bowel loops. Fetal MRI at 32 weeks gestation identified a perihepatic collection with several dilated small bowel loops and normal sized meconium filled rectosigmoid consistent with distal bowel perforation and loculated meconium peritonitis. Following delivery, the infant presented with bowel obstruction. Contrast enema revealed a normal sized rectosigmoid with small ascending and transverse colon. A distal ileal atresia type IIIa was documented at surgery.

Heterotaxia Syndrome with Intraluminal Duodenal Diverticulum

Both heterotaxia and intraluminal duodenal diverticulum (IDD) are uncommon congenital anomalies. Heterotaxia is a group of situs anomalies and IDD is a type of duodenal atresia. Heterotaxia is commonly associated with intraabdominal abnormalities causing intestinal obstruction, but heterotaxia with IDD is extremely rare. Herein we report a case of 21-year-old female who presented with symptoms of duodenal obstruction due to IDD associated with heterotaxia. This is the second case found as a result of a search through PubMed. We first used 3-dimentional virtual computed tomograph endoscopy for making the diagnosis and the treatment plan of this patient.

Facial herpes zoster infection precipitated by surgical manipulation of the trigeminal nerve during exploration of the posterior fossa: a case report

Atresia of the colon is among the rare types of all gastrointestinal atresias. Ascending colon is the rarest site of all the colonic atresias. The authors report a case of a 4-day-old male baby who presented with the features of distal intestinal obstruction. At laparotomy type I atresia of the ascending colon, just distal to cecum, was found. Primary ceco-colic anastomosis along with a covering ileostomy was performed. Ileostomy was reversed 3 weeks later.

Gastric transposition after esophago-coloplasty failure by the graft necrosis in the surgical management of the long gap esophageal atresia type I

Gastric transposition after esophago-coloplasty failure by the graft necrosis in the surgical management of the long gap esophageal atresia type I

ESOPHAGEAL REPLACEMENT IN CHILDREN

Introduction: esophageal replacement in childhood, is indicated for intractable stenosis and long-gap atresia. When it is impossible to preserve the native esophagus we must create an appropriate conduit that should allow physiological oral feeding. Patients and Methods: we present two cases. The first patient, born with long gap esophageal atresia (AE), was submitted to ligation of fistula, gastrostomy and esophagostomy. When he was 1 years old came to our observation with two derivations. The radiological examination with contrast confirmed the large gap between the two oesophageal stumps. We decided to refer the patient to esophageal substitution with isoperistaltic jejunum through the posterior mediastinum. The second patient was born with AE type III and he was submitted to ligation of fistula, primary anastomosis, and 4 additional interventions of closure of recurrent fistula, esophageal resection and anti-reflux surgery. He came to our observation when he was 6 years old. The radiography showed esophageal dysmotility and dislocation of the stomach in the chest. We decided to subject the patient to esophageal replacement with stomach in toto. Results: Both patients had a good post-operative course. They began food orally in the first case in 18th day and in the second case in 7th. At follow-up after 1 year the children ate regularly, they don’t show respiratory symptoms or gastro-oesophageal reflux and they have a good growth. Conclusions: Esophageal replacement is a complex surgical procedure, which provides various options. Only a careful preoperative evaluation allows us a choice of organ to be used as esophageal substitute. The colon is the most widely used. There are other surgical options that may offer, in skilled hands, the same guarantees. Both our cases have a good long term follow-up with regular diet and weight-height growth. Our experience confirms the validity of the 2 techniques, which include preferably the use of posterior mediastinal way and careful surgical preparation of the bowels.

ESOPHAGEAL REPLACEMENT IN CHILDREN

Introduction: esophageal replacement in childhood, is indicated for intractable stenosis and long-gap atresia. When it is impossible to preserve the native esophagus we must create an appropriate conduit that should allow physiological oral feeding. Patients and Methods: we present two cases. The first patient, born with long gap esophageal atresia (AE), was submitted to ligation of fistula, gastrostomy and esophagostomy. When he was 1 years old came to our observation with two derivations. The radiological examination with contrast confirmed the large gap between the two oesophageal stumps. We decided to refer the patient to esophageal substitution with isoperistaltic jejunum through the posterior mediastinum. The second patient was born with AE type III and he was submitted to ligation of fistula, primary anastomosis, and 4 additional interventions of closure of recurrent fistula, esophageal resection and anti-reflux surgery. He came to our observation when he was 6 years old. The radiography showed esophageal dysmotility and dislocation of the stomach in the chest. We decided to subject the patient to esophageal replacement with stomach in toto. Results: Both patients had a good post-operative course. They began food orally in the first case in 18th day and in the second case in 7th. At follow-up after 1 year the children ate regularly, they don&rsquo;t show respiratory symptoms or gastro-oesophageal reflux and they have a good growth. Conclusions: Esophageal replacement is a complex surgical procedure, which provides various options. Only a careful preoperative evaluation allows us a choice of organ to be used as esophageal substitute. The colon is the most widely used. There are other surgical options that may offer, in skilled hands, the same guarantees. Both our cases have a good long term follow-up with regular diet and weight-height growth. Our experience confirms the validity of the 2 techniques, which include preferably the use of posterior mediastinal way and careful surgical preparation of the bowels.

Apple peel small bowel. Imaging case book

We have read with interest the article from Herman and Siegel related to imaging in the case of apple peel small bowel (APSB) or ‘Christmas tree deformity’. In the context of the diagnostic value of upper gastrointestinal series complemented by contrast enema for APSB, the authors described in detail the pathogenesis of this type of intestinal atresia. Although it is generally accepted that the majority of APSB cases result due to early in utero vascular accidents, APSB most likely represents a spectrum of disorders that includes hereditary phenotypes. However, the authors did not make mention of the pathogenetic role in APSB of intrauterine disruptive events such as volvulus, internal herniation and intussusceptions. In cases of jejuno-ileal atresia, such events are typically observed in single mid and low atresias. To demonstrate the pathogenetic role of late intrauterine events, we can add a unique case of APSB due to intrauterine midgut autoamputation caused by midgut volvulus. The baby was the first child of a 20-year-old mother with a history of ongoing heavy nicotine abuse. In the 26th week of gestation, small bowel obstruction due to volvulus was found by serial intrauterine ultrasounds. Owing to preterm labor, the baby was delivered by cesarean section in the 33rd week. Postnatally, the diagnosis of upper bowel obstruction was confirmed by ultrasound and plain X-ray. No air was seen distal to the proximal jejunum. At laparotomy, an apple peel-type jejunal atresia was noted 10 cm below the duodenojejunal flexure with largely dilated oral jejunum, mesenteric defect, concomitant volvulus of the distended oral jejunum and spiraled short segment terminal ileum with absence of the dorsal mesentery (Figure 1). Neither embryonic cords nor abnormal fixation of the narrow colon was observed. Surprisingly, a free-floating helical atretic bowel segment of browngreen color was found within the peritoneal fluid (Figure 2). Its intestinal origin was confirmed by histology, which revealed a

Morphological classification of bovine ovarian follicles

Follicle classification is an important aid to the understanding of follicular development and atresia. Some bovine primordial follicles have the classical primordial shape, but ellipsoidal shaped follicles with some cuboidal granulosa cells at the poles are far more common. Preantral follicles have one of two basal lamina phenotypes, either a single aligned layer or one with additional layers. In antral follicles <5 mm diameter, half of the healthy follicles have columnar shaped basal granulosa cells and additional layers of basal lamina, which appear as loops in cross section ('loopy'). The remainder have aligned single-layered follicular basal laminas with rounded basal cells, and contain better quality oocytes than the loopy/columnar follicles. In sizes >5 mm, only aligned/rounded phenotypes are present. Dominant and subordinate follicles can be identified by ultrasound and/or histological examination of pairs of ovaries. Atretic follicles <5 mm are either basal atretic or antral atretic, named on the basis of the location in the membrana granulosa where cells die first. Basal atretic follicles have considerable biological differences to antral atretic follicles. In follicles >5 mm, only antral atresia is observed. The concentrations of follicular fluid steroid hormones can be used to classify atresia and distinguish some of the different types of atresia; however, this method is unlikely to identify follicles early in atresia, and hence misclassify them as healthy. Other biochemical and histological methods can be used, but since cell death is a part of normal homoeostatis, deciding when a follicle has entered atresia remains somewhat subjective.

Erythromycin establishes early oral feeding in neonates operated for congenital intestinal atresias

The recovery of gastrointestinal function following surgery for congenital intestinal atresias can be prolonged and may increase morbidity and hospital stay. This study was conducted to investigate the prokinetic effect of erythromycin in neonates undergoing surgery for small bowel atresias. A randomized-controlled trial was conducted at the Departments of Paediatrics and Paediatric Surgery, Military Hospital, Rawalpindi, Pakistan, from January to December 2007 to study the prokinetic effect of erythromycin (3 mg/kg per dose 4 times daily). Thirty consecutive neonates undergoing primary anastomosis for congenital small bowel atresias were randomly divided into two groups: group I (erythromycin) and group II (control). The groups were similar in terms of gestational age, sex, mode of delivery, birth weight and types of atresias. Postoperative recovery of intestinal functions was measured as time taken to achieve full enteral feed (150 ml/kg per 24 h), duration of total parenteral nutrition (TPN) and hospital stay. Neonates receiving oral erythromycin achieved full enteral feeding early (13.07 vs. 16.13 days) required TPN for shorter duration (10.53 vs. 13.73 days) and their hospital stay was less (16.2 vs. 18.0 days) as compared to the neonates in the control group who did not receive any erythromycin. The differences were statistically significant. The administration of oral erythromycin following primary anastomosis for small intestinal atresias results in early recovery of intestinal function, fewer days on TPN and a trend for shorter hospital stay.