Gastric volvulus (GV) is an uncommon pathology, with 10-20% of cases occurring in children, typically before one year of age. It often occurs in people with congenital diaphragmatic hernias, intestinal malrotation, eventration of the diaphragm, paraesophageal hernias, wandering spleens, asplenism, or intra-abdominal adhesions. We report a rare case of chronic GV after left hemihepatectomy for hepatoblastoma in a child. The patient was a 9-year-old boy who complained of upper abdominal pain and postprandial upper abdominal distension for one year. At the age of 4 months, he was diagnosed with hepatoblastoma and had undergone left hemihepatectomy. The upper gastrointestinal contrast study revealed chronic organoaxial gastric volvulus. After a surgical procedure involving adhesiolysis and an anterior wall gastropexy, the patient improved and the symptoms resolved. Although GV is a rare disease, it should be suspected in a patient with a previous abdominal surgical history who is complaining of abdominal distension and pain.
Abdominal Pain ; Child ; Diaphragm ; Gastropexy ; Hepatectomy ; Hepatoblastoma ; Hernia, Hiatal ; Hernias, Diaphragmatic, Congenital ; Humans ; Male ; Pathology ; Rare Diseases ; Stomach Volvulus ; Wandering Spleen

PURPOSE: Late-presenting congenital diaphragmatic hernia (CDH) beyond the neonatal period is rare and often misdiagnosed, with delayed treatment. MATERIALS AND METHODS: We retrospectively reviewed our experience with late-presenting CDH over 30 years at a single institution to determine the characteristics of late-presenting CDH for early diagnosis. RESULTS: Seven patients had operations due to late-presenting CHD in our institution over 30 years. The patients' ages ranged from 2.5 months to 16 years. There were six boys and one girl. Five hernias were left-sided, one was right-sided and one was a retrosternal hernia. All patients had normal intestinal rotation. Non-specific gastrointestinal or respiratory symptoms and signs were usually presented. Intestinal malrotations were absent; therefore, only organs adjacent to the defect or relatively movable organs such as the small bowel and transverse colon were herniated. Two cases were accompanied by stomach herniation with the volvulus and liver, respectively. The duration from presentation to diagnosis varied from 5 days to 1 year. Diagnoses were made by chest X-ray, upper gastrointestinal series and chest computed tomography. All patients underwent primary repair with interrupted non-absorbable sutures by a transabdominal approach. None had postoperative complications. The follow-up period in six patients ranged from 4 months to 20 years (median 3.8 years). There was no recurrence in any of the patients on follow-up. CONCLUSION: A high index of suspicion is important for the diagnosis of late-presenting CDH because it can be a life-threatening condition such as CDH with a gastric volvulus. Early diagnosis and appropriate treatment can lead to a good prognosis.
Adolescent ; Child ; Child, Preschool ; Female ; Hernia, Diaphragmatic/congenital/*diagnosis/epidemiology ; Humans ; Incidence ; Infant ; Male ; Republic of Korea/epidemiology ; Retrospective Studies

PURPOSE: To investigate incidence, changing patterns, and mortality associated with congenital anomalies experienced in a single neonatal intensive care unit (NICU). METHODS: Retrospective chart review of 29,026 neonates admitted to NICU and nursery of Asan Medical Center from January 2001 to December 2010 was done. The congenital anomalies were classified according to 76 anomalies in 8 systems registered by Korean Ministry of Health and Welfare in 2009. RESULTS: A total of 3,122 neonates had at least 1 anomaly. Mean gestational age and birth weight were 38(+2)+/-2.3 weeks and 2,030+/-541 g respectively. The proportion of male is 61%. The incidence of congenital anomalies and the proportion of mothers older than 35 years increased from 8.3% to 23.0% and 6.4% to 16.4% in 2001 compared to 2010 respectively. The percentage of neonates who have multiple anomalies was almost equal from 24.0% in 2001 to 23.7% in 2010. The most common anomalies, by system, included atrial septal defect, hydronephrosis, anorectal atresia/stenosis, cystic adenomatoid malformation, cleft lip and/or palate, CATCH 22 syndrome, polydactyly, and hydrocephalus. The overall mortality at 2 years old decreased from 11.1% to 8.0% in 2001 and 2010. Most common etiologies resulting in highest mortality, by system, were hypoplastic left heart syndrome, renal agenesis, congenital diaphragmatic hernia, pulmonary hypoplasia, 18 trisomy, and anancephaly. CONCLUSION: Our data have shown that the incidence of congenital anomaly included in this study is increasing. A detailed epidemiologic study based on larger population is required in order to investigate preventive measures.
Birth Weight ; Cleft Lip ; Congenital Abnormalities ; Epidemiologic Studies ; Gestational Age ; Heart Septal Defects, Atrial ; Hernia, Diaphragmatic ; Humans ; Hydrocephalus ; Hydronephrosis ; Hypoplastic Left Heart Syndrome ; Incidence ; Infant, Newborn ; Intensive Care, Neonatal ; Kidney ; Kidney Diseases ; Male ; Mothers ; Nurseries ; Palate ; Polydactyly ; Retrospective Studies ; Trisomy

INTRODUCTIONWe aimed to investigate the epidemiology, diagnosis, prognostication, follow-up care and outcomes of antenatally diagnosed congenital diaphragmatic hernia (CDH) in KK Women's and Children's Hospital (KKH), Singapore. The objective of this study was to identify trends in current practice, and evaluate and improve the management of CDH.

METHODSWe retrospectively reviewed cases of antenatally diagnosed CDH from 2006 to 2010.

RESULTSA total of 22 cases of CDH were found, bringing its incidence in KKH to 3.6 per 10,000 live births. The mean gestational age at diagnosis was 22.7 weeks, with 14 (63.6%) cases diagnosed at < 22 weeks and 8 (36.4%) diagnosed at ≥ 22 weeks. All cases were left-sided - 15 (68.2%) were isolated CDH and 7 (31.8%) were associated with other anomalies. Of the 22 cases, counselling about the prognosis of pregnancy based on the lung-to-head ratio was provided in 9 (40.9%). Overall, 10 (45.5%) cases resulted in termination of pregnancy (TOP), 9 (40.9%) resulted in live birth and 1 (4.5%) in stillbirth; 2 (9.1%) cases were lost to follow-up prior to delivery. Of the 9 live births, 3 (33.3%) resulted in neonatal death. In the 10 births, 5 (50.0%) were delivered by normal vaginal delivery, 4 (40.0%) by emergency Caesarean section and 1 (10.0%) by elective Caesarean section.

CONCLUSIONCDH is a challenging perinatal problem with a low overall survival rate. Almost half of the cases opt for TOP. The data in this study can help clinicians better undertake the task of adequately counselling parents with qualitative and quantitative prognostic factors, using an evidence-based approach.

Adult ; Counseling ; Delivery, Obstetric ; methods ; Female ; Gestational Age ; Hernia, Diaphragmatic ; diagnostic imaging ; epidemiology ; Hernias, Diaphragmatic, Congenital ; Humans ; Incidence ; Pregnancy ; Pregnancy Outcome ; Prognosis ; Retrospective Studies ; Singapore ; epidemiology ; Survival Rate ; Treatment Outcome ; Ultrasonography, Prenatal

The aims of this study were to investigate whether early arterial blood gas analysis (ABGA) could define the severity of disease in infants with congenital diaphragmatic hernia (CDH). We conducted a retrospective study over a 21-yr period of infants diagnosed with CDH. Outcomes were defined as death before discharge, and extracorporeal membrane oxygenation requirements (ECMO) or death. A total 114 infants were included in this study. We investigated whether simplified prediction formula [PO2-PCO2] values at 0, 4, 8, and 12 hr after birth were associated with mortality, and ECMO or death. The area under curve (AUC) of receiver operating characteristic curve was used to determine the optimum ABGA values for predicting outcomes. The value of [PO2-PCO2] at birth was the best predictor of mortality (AUC 0.803, P < 0.001) and at 4 hr after birth was the most reliable predictor of ECMO or death (AUC 0.777, P < 0.001). The value of [PO2-PCO2] from ABGA early period after birth can reliably predict outcomes in infants with CDH.
*Algorithms ; Area Under Curve ; *Blood Gas Analysis ; *Extracorporeal Membrane Oxygenation ; Female ; Hernia, Diaphragmatic/*congenital/mortality/physiopathology ; Humans ; Infant, Newborn ; Male ; Predictive Value of Tests ; ROC Curve ; Retrospective Studies ; Survival Rate ; Treatment Outcome

OBJECTIVETo study the protective effect of the prenatal use of tetrandrine (TET) against congenital diaphragmatic hernia (CDH) in rats and possible mechanisms.

METHODSPregnant female Sprague-Dawley rats were randomly divided into 3 groups: control, nitrofen and TET treatment. The later two groups were administered with nitrofen by gavage on day 9.5 of gestation. On day 18.5 of gestation, TET (30 mg/kg) was given by gavage (once a day, for three days) in the TET treatment group. On day 21 of gestation, parts of pregnant rats were delivered by cesarean section and amniotic fluid was collected. The fetal rats were examined for a diaphragmatic hernia. Lung histologic evaluations with microscope and immunohistochemistry staining of TNF-α were performed. TNF-α in amniotic fluid was detected using ELISA. The remaining pregnant rats were allowed to deliver spontaneously at term. The survival of pup rats was observed until 24 hrs of age.

RESULTSIn the nitrofen group, significant lung hypoplasia was presented not only in fetuses with CDH but also in those without CDH. Stronger expression of TNF-α was observed in fetal lungs and amniotic fluid in the nitrofen group, even when CDH was absent. The TET treatment group showed improved lung development compared with the nitrofen group. The incidence of large diaphragmatic hernia in the TET treatment group was lower than that in the nitrofen group (P<0.05), and the expression of TNF-α in fetal lungs and amniotic fluid in the TET treatment group was also lower than in the nitrofen group (P<0.01). The 24-hr survival rate of pup rats in the TET group was higher than that in the nitrofen group (P<0.01).

CONCLUSIONSPrenatal use of TET can improve nitrofen-induced pulmonary hypoplasia, decrease the incidence of large diaphragmatic hernia and increase the survival rate of pup rats, possibly through a reduction in the production of TNF-α in fetal lungs and amniotic fluid in rats with CDH.

Animals ; Benzylisoquinolines ; therapeutic use ; Drugs, Chinese Herbal ; therapeutic use ; Enzyme-Linked Immunosorbent Assay ; Female ; Hernia, Diaphragmatic ; prevention & control ; Hernias, Diaphragmatic, Congenital ; Immunohistochemistry ; Male ; Pregnancy ; Rats ; Rats, Sprague-Dawley ; Tumor Necrosis Factor-alpha ; analysis

Epidermal Growth Factor ; physiology ; Fetal Diseases ; therapy ; Hernia, Diaphragmatic ; complications ; therapy ; Hernias, Diaphragmatic, Congenital ; Humans ; Lung ; abnormalities ; pathology ; Prenatal Diagnosis ; Pulmonary Surfactants ; pharmacology ; Tumor Necrosis Factor-alpha ; physiology

Adult ; Female ; Fetal Organ Maturity ; Hernia, Diaphragmatic ; complications ; Hernias, Diaphragmatic, Congenital ; Humans ; Infant, Newborn ; Lung ; pathology ; Myocardium ; pathology ; Pregnancy

OBJECTIVETo access the expression of transforming growth factor beta1 (TGF-beta1) in the lung of Nitrofen-induced congenital diaphragmatic hernia rat model.

METHODSTwelve timed-pregnant Sprague-Dawley rats were randomly divided into two groups, namely control group and CDH group on day 9.5 of gestation. Each rat in the CDH group was given 125 mg of Nitrofen (dissolved in seed fat) by gavage. Each rat in the control group was given the same dose of single oil. On day 16 of gestation, the two groups mentioned above were divided into three subgroups, and fetuses were delivered by cesarean section respectively on day 16, 18 and 21 of gestation. After the fetuses were checked for diaphragmatic hernia, lung tissue weight (LW) and body weight (BW) of each fetus on gestational day 21 were recorded. Lung histologic evaluations were made with microscope and TGF-beta1 immunohistochemistry staining were performed with image analyzing.

RESULTSAt day 16 of gestation, no visible diaphragm closure was observed in all fetuses. Diaphragmatic hernia was observed in 32 of the 44 rat fetuses of the CDH groups on day 18 and day 21 of gestation (72.7%). Lw/Bw of the 21d subgroups of CDH group were lower than those of corresponding control group (P < 0.01). Observed under the microscope, the lungs of fetuses in CDH groups showed marked hypoplasia. The expression of TGF-beta1 was detected in cytoplasmic, without definite expression in nuclear. It was significantly stronger that the expression of TGF-beta1 was in the lungs of the CDH group than that of the control group (P < 0.01).

CONCLUSIONSNitrofen interferes with lung development in early stage of the fetal before the diaphragm developed. TGF-beta1 would be one of the important factors which lead to pulmonary hypoplasia.

Animals ; Disease Models, Animal ; Female ; Hernia, Diaphragmatic ; metabolism ; Hernias, Diaphragmatic, Congenital ; Lung ; metabolism ; Random Allocation ; Rats ; Rats, Sprague-Dawley ; Transforming Growth Factor beta1 ; metabolism

The Jarcho-Levin syndrome is a rare genetic disorder characterized by a short neck, short trunk, and a constricted thorax, and is due to multiple vertebral and rib defects. The small size of the thorax frequently leads to respiratory insufficiency and death in neonates or infants. This syndrome also combines with various kinds of anomalies, especially renal anomalies. We report an infant with Jarcho-Levin syndrome combined with fusion of both kidneys who was referred from a local obstetric clinic for cyanosis and respiratory difficulty.
Abnormalities, Multiple ; Cyanosis ; Heart Defects, Congenital ; Hernia, Diaphragmatic ; Humans ; Infant ; Infant, Newborn ; Kidney ; Neck ; Respiratory Insufficiency ; Ribs ; Thorax