A comparison of the success rate of pneumatic reduction in intussusception between general anesthesia and deep sedation: a randomized controlled trial.

PURPOSE: This study was aimed to compare the success rate between patients who underwent general anesthesia and deep sedation. METHODS: Patients who were diagnosed with intussusception and had no contraindications would receive non-operative treatment first by undergoing pneumatic reduction. The patients were then split in to two groups: one group underwent general anesthesia (GA group), while the other underwent deep sedation (SD group). This study was a randomized controlled trial which compared success rate between two groups. RESULTS: A total of 49 episodes diagnosed with intussusception were random into 25 episodes in GA group and 24 episodes in SD group. There was no significant difference in baseline characteristic between the two groups. The success rates of GA group and SD group were equally 88.0% (p = 1.00). Sub-analysis of the success rate was lower in the patients with high-risk score for failed reduction. (Chiang Mai University Intussusception (CMUI) failed score in success VS failed = 6.9 ± 3.2 vs. 10.3 ± 3.0 p = 0.017). CONCLUSION: General anesthesia and deep sedation offered similar success rates. In cases of high risk of failure, general anesthesia should be considered to accommodate the switch to surgical management in the same setting if the non-operative approach fails. The appropriate treatment and sedative protocol also increase the success of reduction.

WNT1-associated osteogenesis imperfecta with atrophic frontal lobes and arachnoid cysts.

A rare form of osteogenesis imperfecta (OI) caused by Wingless-type MMTV integration site family 1 (WNT1) mutations combines central nervous system (CNS) anomalies with the characteristic increased susceptibility to fractures. We report an additional case where arachnoid cysts extend the phenotype, and that also confirms the association of intellectual disabilities with asymmetric cerebellar hypoplasia here. Interestingly, if the cerebellum is normal in this disorder, intelligence is as well, analogous to an association with similar delays in a subset of patients with sporadic unilateral cerebellar hypoplasia. Those cases typically appear to represent vascular disruptions, and we suggest that most brain anomalies in WNT1-associated OI have vascular origins related to a role for WNT1 in CNS angiogenesis. This unusual combination of benign cerebellar findings with effects on higher functions in these two situations raises the possibility that WNT1 is involved in the pathogenesis of the associated sporadic cases as well. Finally, our patient reacted poorly to pamidronate, which appears ineffective with this form of OI, so that a lack of improvement is an indication for molecular testing that includes WNT1.

IAEA survey of paediatric computed tomography practice in 40 countries in Asia, Europe, Latin America and Africa: procedures and protocols.

OBJECTIVE: To survey procedures and protocols in paediatric computed tomography (CT) in 40 less resourced countries. METHODS: Under a project of the International Atomic Energy Agency, 146 CT facilities in 40 countries of Africa, Asia, Europe and Latin America responded to an electronic survey of CT technology, exposure parameters, CT protocols and doses. RESULTS: Modern MDCT systems are available in 77 % of the facilities surveyed with dedicated paediatric CT protocols available in 94 %. However, protocols for some age groups were unavailable in around 50 % of the facilities surveyed. Indication-based protocols were used in 57 % of facilities. Estimates of radiation dose using CTDI or DLP from standard CT protocols demonstrated wide variation up to a factor of 100. CTDI(vol) values for the head and chest were between two and five times those for an adult at some sites. Sedation and use of shielding were frequently reported; immobilisation was not. Records of exposure factors were kept at 49 % of sites. CONCLUSION: There is significant potential for improvement in CT practice and protocol use for children in less resourced countries. Dose estimates for young children varied widely. This survey provides critical baseline data for ongoing quality improvement efforts by the IAEA.

IAEA survey of pediatric CT practice in 40 countries in Asia, Europe, Latin America, and Africa: Part 1, frequency and appropriateness.

OBJECTIVE: The purpose of this study was to assess the frequency of pediatric CT in 40 less-resourced countries and to determine the level of appropriateness in CT use. MATERIALS AND METHODS: Data on the increase in the number of CT examinations during 2007 and 2009 and appropriate use of CT examinations were collected, using standard forms, from 146 CT facilities at 126 hospitals. RESULTS: The lowest frequency of pediatric CT examinations in 2009 was in European facilities (4.3%), and frequencies in Asia (12.2%) and Africa (7.8%) were twice as high. Head CT is the most common CT examination in children, amounting to nearly 75% of all pediatric CT examinations. Although regulations in many countries assign radiologists with the main responsibility of deciding whether a radiologic examination should be performed, in fact, radiologists alone were responsible for only 6.3% of situations. Written referral guidelines for imaging were not available in almost one half of the CT facilities. Appropriateness criteria for CT examinations in children did not always follow guidelines set by agencies, in particular, for patients with accidental head trauma, infants with congenital torticollis, children with possible ventriculoperitoneal shunt malfunction, and young children (< 5 years old) with acute sinusitis. In about one third of situations, nonavailability of previous images and records on previously received patient doses have the potential to lead to unnecessary examinations and radiation doses. CONCLUSION: With increasing use of CT in children and a lack of use of appropriateness criteria, there is a strong need to implement guidelines to avoid unnecessary radiation doses to children.

Survey of pediatric MDCT radiation dose from university hospitals in Thailand: a preliminary for national dose survey.

BACKGROUND: Increasing pediatric CT usage worldwide needs the optimization of CT protocol examination. Although there are previous published dose reference level (DRL) values, the local DRLs should be established to guide for clinical practice and monitor the CT radiation. PURPOSE: To determine the multidetector CT (MDCT) radiation dose in children in three university hospitals in Thailand in four age groups using the CT dose index (CTDI) and dose length product (DLP). MATERIAL AND METHODS: A retrospective review of CT dosimetry in pediatric patients (<15 years of age) who had undergone head, chest, and abdominal MDCT in three major university hospitals in Thailand was performed. Volume CTDI (CTDI(vol)) and DLP were recorded, categorized into four age groups: <1 year, 1-< 5 years, 5-<10 years, and 10-<15 years in each scanner. Range, mean, and third quartile values were compared with the national reference dose levels for CT in pediatric patients from the UK and Switzerland according to International Commission on Radiological Protection (ICRP) recommendation. Results Per age group, the third quartile values for brain, chest, and abdominal CTs were, respectively, in terms of CTDI(vol): 25, 30, 40, and 45 mGy; 4.5, 5.7, 10, and 15.6 mGy; 8.5, 9, 14, and 17 mGy; and in terms of DLP: 400, 570, 610, and 800 mGy cm; 80, 140, 305, and 470 mGy cm; and 190, 275, 560,765 mGy cm. CONCLUSION: This preliminary national dose survey for pediatric CT in Thailand found that the majority of CTDI(vol) and DLP values in brain, chest, and abdominal CTs were still below the diagnostic reference levels (DRLs) from the UK and Switzerland regarding to ICRP recommendation.

Diffuse neonatal hemangiomatosis with a single atypical cutaneous hemangioma.

Diffuse neonatal hemangiomatosis (DNH) is an extremely rare but deadly neonatal condition which presents as multiple cutaneous hemangiomas and hemangiomas in 3 or more visceral organs. DNH is usually suspected when multiple hemangiomas are found on the skin of the baby. We hereby present an interesting case in a newborn whose diagnosis was made from multiple intracranial, hepatic, and intramuscular hemangiomas, but with a single and unusual cutaneous manifestation over the right ankle. The patient was asymptomatic at the time of diagnosis. Due to the solitary nature of skin lesion, this report might contribute to a redefining of the term DNH.

A Case of Infantile Hepatic Hemangioendothelioma/Hemangioma at Maharaj Nakorn Chiang Mai Hospital.

Infantile hepatic hemangioendothelioma/hemangioma is the most common benign hepatic vascular tumor of infancy, comprising approximately 1% of all childhood tumors. The tumor can present during the fetal or neonatal period as a hepatic mass. Common presentations include abdominal distension and a palpable hepatic mass. Clinico-radio-pathological correlation is essential for a definite diagnosis. Frequent complications such as congestive heart failure, thrombocytopenia, anemia, and Kasabach-Merritt syndrome should be investigated. Chemotherapy has been reported as an effective treatment option. Surgical resection has an essential role for symptomatic patients with medical treatment failure or other certain conditions such as refusal to take medication. Furthermore, prenatal diagnosis is essential for better patient outcomes due to prompt treatment in the neonatal period. We report a case of a female infant at 39 weeks of gestation who was delivered from a 32-year-old mother. The infant was in utero diagnosed by ultrasonography with a hepatic mass, most likely hemangioma. The mass was resected after birth and it was diagnosed as infantile hepatic hemangioendothelioma type II. The course of the disease was excellent and the patient was cured after treatment.

Accuracy of various recent recommendations to estimate the optimal depth of orotracheal tube in Thai neonates.

BACKGROUND: Malposition of an endotracheal tube (ETT) may lead to many serious consequences. Recently, various methods have been proposed to estimate the proper position of orotracheal intubation (Pro-depth) for neonates. OBJECTIVES: To determine and compare the accuracy of various methods for estimating the Pro-depth and to define the most accurate method for the Asian population. METHOD: This cross-sectional study was conducted at the Chiang Mai University Hospital, Thailand in Asian neonates who required orotracheal intubation and their ETT's position were confirmed with anteroposterior chest radiographs. The estimated depths of orotracheal tubes (Est-depth) were calculated by using 4 methods: the rule of 7-8-9, NTL + 1 cm, corrected gestational age (GA)-based table, and body weight (BW)-based table. We defined the Pro-depth as the depth which provided the ETT's tip placed at mid trachea. The Pearson's correlation coefficient, the Bland-Altmann plot and mean differences with standard deviation (SD) between paired Est-depth by each method and Pro-depth were determined. New formulae were generated to estimate the Pro-depth based on a linear regression equation. The accuracy of each method to predict the optimal depth of orotracheal intubation (Opt-depth) was calculated. RESULTS: Fifty-eight Asian neonates were enrolled of which, 82.8% were Thai. The mean ± SD of GA and BW were 33 ± 5 weeks and 1562 ± 842 g, respectively. NTL + 1 cm and the Pro-depth showed the strongest correlation (r = 0.90, p-value < .01) and agreement with mean difference ± SD of 0.28 ± 0.53 cm. The accuracies of the rule of 7-8-9, NTL + 1cm, corrected GA-based and BW-based table to predict the Opt-depth were 56.9%, 63.8%, 62.1%, and 60.3%, respectively. We created two simple formulae for our population to increase the accuracy of NTL parameter: NTL + 1 cm for measured NTL ≤ 6.5 cm and NTL + 0.5 cm for measured NTL > 6.5 cm. This new method provided more accuracy (72.4%) with mean difference ± SD of -0.03 ± 0.53 cm. CONCLUSION: NTL was the most suitable parameter for estimating the Pro-depth. Our new modified NTL method should be used for Thai neonates with high accuracy and non-significantly underestimated trend. However, promptly clinical assessment and final confirmation by a chest radiography should be done in all intubated patients.

Accuracy of Computed Tomography and Magnetic Resonance Imaging for Detection of Pathologic Risk Factors in Patients Diagnosed with Retinoblastoma.

Aim: To assess and compare the diagnostic accuracy of magnetic resonance imaging (MRI) and computed tomography (CT) for detecting the extent of tumor invasion in eyes with advanced retinoblastoma prior to enucleation using histopathologic analysis as a reference.Methods: A total of 56 patients (68 eyes) enucleated for retinoblastoma were reviewed. Eyes with complete data (CT 28, MRI 16) were included for analysis. Imaging data were reviewed by a pediatric radiologist, blinded to histopathology results. Four high-risk factors which included scleral, choroidal, anterior eye segment invasion, and postlaminar optic nerve invasion were assessed.Results: For CT, the diagnostic odds ratio (DOR), sensitivity, and specificity for detecting postlaminar optic nerve invasion were 1.7%, 25%, and 83.3%. Choroidal invasion was correctly identified in only 2 of 10 eyes (DOR 0.5, sensitivity 20%, specificity 66.7%). For scleral invasion, CT showed a diagnostic ratio of 1.5%, sensitivity 40%, specificity 69.6% whereas for anterior segment invasion DOR was 9.2%, sensitivity 100%, and specificity 65.4%. MRI showed a higher DOR for detecting postlaminar optic nerve invasion of 39%, sensitivity 77.8%, and specificity 100%. Choroidal and scleral invasion on MRI had a DOR of 6.5% (sensitivity 25%, specificity 100%) and 6% (sensitivity 33.3%, specificity 92.3%) respectively while DOR for anterior segment invasion was 1.3% (sensitivity 50%, specificity 57.1%).Conclusion: CT showed a poor diagnostic accuracy for all four high-risk factors in advanced retinoblastoma and therefore may not be a useful tool for assessment of tumor extension. For MRI, detection of postlaminar optic nerve invasion was moderately accurate although less accurate for detection of other risk factors. Decision-making for each child should not be based on any single parameter but rather on consideration of clinical factors in combination with radiologic findings.

Pediatric renovascular hypertension in Thailand: CT angiographic findings.

BACKGROUND: Renovascular disease is an uncommon but important cause of hypertension in children. When unrecognized and untreated, renovascular hypertension in children can have serious complications. OBJECTIVE: To review the causes of renovascular hypertension and computed tomography angiographic (CTA) findings in children and adolescents. MATERIALS AND METHODS: Twenty-eight CTAs from January 2004 to March 2008 of 23 children and adolescents with hypertension were reviewed for the causes and CTA findings. RESULTS: Nine of the 23 children (39%) had abnormal renal arteries with or without abnormal abdominal aortas. Four of these children had Takayasu arteritis, one had moyamoya disease, and one had median arcuate ligament syndrome. One with chronic pyelonephritis had severe stenosis of the proximal right renal artery. The other two children had renal artery stenosis with a nonspecific cause. One child with a normal abdominal aorta and renal arteries had a right suprarenal mass. On pathological examination a ganglioneuroma was found. CONCLUSION: CTA can help in diagnosis of renovascular hypertension in children and adolescents. Although CTA is not a screening modality, it is appropriate in some situations.

Nonalcoholic fatty liver disease and hepatic fibrosis among perinatally HIV-monoinfected Asian adolescents receiving antiretroviral therapy.

To assess and compare the prevalence of persistent hepatic abnormalities, including nonalcoholic fatty liver disease (NAFLD) and/or hepatic fibrosis, among perinatally HIV-monoinfected Asian adolescents with history of abnormal hepatic enzymes to those without, using noninvasive diagnostic tools. A multicenter cohort study was conducted in Thailand and Indonesia. Adolescents aged 10-25 years who were on antiretroviral treatment (ART), had virologic suppression (HIV RNA<400 copies/mL within the past 6 months), and had no history of chronic hepatitis B/C infection were enrolled. Participants were pre-classified into 2 subgroups (1:1 ratio) as participants with history of elevated versus normal aminotransferase enzymes. NAFLD was defined as hepatic steatosis (any severity) evaluated by liver ultrasonography. Significant hepatic fibrosis was defined as liver stiffness ≥7.4 kPa evaluated by transient elastography. Participants who met the criteria for protocol-defined NAFLD and/or hepatic fibrosis were re-assessed to evaluate disease progression (persistent versus transient hepatic abnormalities) at one year later. Of 120 participants, 62 (51.7%) were male, 7 (5.8%) had central obesity, and 19 (15.8%) had insulin resistance (homeostasis model assessment of insulin resistance [HOMA-IR] >3.16). At enrollment, the median age and duration of ART (IQR) were 17.0 (14.6-19.2) years and 10.5 (7.1-12.0) years, respectively. Persistent hepatic abnormalities were identified in 5/60 participants listed in the group having history of elevated aminotransferases, corresponding to the prevalence of 8.3% (95% CI: 2.8-18.4%), whereas none (0/60) were among the group having history of normal hepatic enzymes. All 5 participants had persistent aminotransferase elevation (≥2 episodes within the past 12 months). Baseline alanine aminotransferase (ALT) >30 U/L (adjusted odds ratio [aOR]: 29.1; 95% CI: 1.7-511.8), and HOMA-IR >3.16 (aOR: 17.9; 95% CI: 1.1-289.7) were independently associated with persistent hepatic abnormalities. Among perinatally HIV-monoinfected Asian adolescents with history of elevated aminotransferase enzymes, persistent hepatic abnormalities are not uncommon. Screening for liver complications by noninvasive diagnostic tools might be considered in at risk individuals, including those with persistent ALT elevation and insulin resistance.

Mapping abnormal subcortical neurodevelopment in a cohort of Thai children with HIV.

Alterations in subcortical brain structures have been reported in adults with HIV and, to a lesser extent, pediatric cohorts. The extent of longitudinal structural abnormalities in children with perinatal HIV infection (PaHIV) remains unclear. We modeled subcortical morphometry from whole brain structural magnetic resonance imaging (1.5 T) scans of 43 Thai children with PaHIV (baseline age = 11.09±2.36 years) and 50 HIV- children (11.26±2.80 years) using volumetric and surface-based shape analyses. The PaHIV sample were randomized to initiate combination antiretroviral treatment (cART) when CD4 counts were 15-24% (immediate: n = 22) or when CD4 < 15% (deferred: n = 21). Follow-up scans were acquired approximately 52 weeks after baseline. Volumetric and shape descriptors capturing local thickness and surface area dilation were defined for the bilateral accumbens, amygdala, putamen, pallidum, thalamus, caudate, and hippocampus. Regression models adjusting for clinical and demographic variables examined between and within group differences in morphometry associated with HIV. We assessed whether baseline CD4 count and cART status or timing associated with brain maturation within the PaHIV group. All models were adjusted for multiple comparisons using the false discovery rate. A pallidal subregion was significantly thinner in children with PaHIV. Regional thickness, surface area, and volume of the pallidum was associated with CD4 count in children with PaHIV. Longitudinal morphometry was not associated with HIV or cART status or timing, however, the trajectory of the left pallidum volume was positively associated with baseline CD4 count. Our findings corroborate reports in adult cohorts demonstrating a high predilection for HIV-mediated abnormalities in the basal ganglia, but suggest the effect of stable PaHIV infection on morphological aspects of brain development may be subtle.

Diagnostic evaluation of infantile cholestasis.

OBJECTIVE: To evaluate diagnostic accuracy of some important clinical manifestations and different investigations in infantile cholestasis. MATERIAL AND METHOD: Infants diagnosed with prolong conjugated hyperbilirubinemia and admitted to Chiang Mai University Hospital between Jan 1999 and Feb 2003. Demographic and clinical data were recorded Routine biochemical tests, and serology for TORCHS infections were carried out. An abdominal ultrasonography, DISIDA scan and percutaneous/open liver biopsy were performed. Hyperechoic band at the level of portal bifurcation, named triangular cord (TC) sign was blindly assessed on ultrasonography by the same radiologist. The patients were diagnosed as BA if either operative findings of atretic common bile duct/ gallbladder or evidence of bile duct obstruction demonstrated by intraoperative cholangiography was noted RESULTS: Sixty-one patients were diagnosed as BA (n = 31) and NH (n = 30) with an average age at diagnosis of 88.6 and 63.1 days respectively. Concerning clinical presentations, only the presence of acholic stool was significantly different between BA and NH (p = 0.006). The GGT level of greater than 500 IU/L was significantly found in BA (p < 0.001). The acholic stool and GGT level more than 500 IU/L were highly specific for BA at 100 and 96.6% respectively. In addition, the sensitivity and specificity of US-TC and DISIDA scan were 87.4, 100 and 89. 7, 92.0% respectively. The accuracy for diagnosis of BA were highest by DISIDA scan (96.3) followed by US-TC (86.9), GGT level of > 500 IU/L(81.0) and acholic stool (80.3) in order CONCLUSION: There was no single laboratory investigation that could precisely make a definite diagnosis of BA. The acholic stool and GGT level of higher than 500 IU/L were highly specific for BA. The TC in ultrasound is noninvasive and easily available tests when combined with acholic stool and the GGT level is suggested plan of management.

Structural Neuroimaging and Neuropsychologic Signatures in Children With Vertically Acquired HIV.

BACKGROUND: Children with vertically acquired HIV exhibit persistent cognitive impairments, yet the corresponding neuroimaging signature of vertical infection remains unclear. METHODS: Fifty healthy control children and 51 vertically infected children were included in the study. The HIV-infected group consisted of survivors who had not received antiretroviral therapy at birth. The HIV-infected group averaged 11.4 (2.5) years of age, with a median CD4 count of 683 cells/mm(3). Most (71%) of the HIV-infected children were on antiretroviral therapy for a median of 34 months (range: 33-42) with HIV RNA <40 copies/mL in 89% of the sample. The HIV-uninfected group averaged 10.6 (2.6) years of age. Magnetic resonance imaging was acquired to determine volumes of the caudate, putamen, thalamus, pallidum, hippocampus, nucleus accumbens, total white matter, total gray matter and cortical gray matter. Correlational analyses examined the degree of shared variance between brain volumes and both cognitive performances and laboratory markers of disease activity (T cells and plasma viral load). RESULTS: HIV-infected children exhibited larger volumes of the caudate, nucleus accumbens, total gray matter and cortical gray matter when compared with the controls. Volumetric differences were predominately evident in children under 12 years of age. HIV-infected children performed worse than controls on most neuropsychologic tests, though neither cognitive performances nor laboratory markers corresponded to brain volumes in the HIV-infected children. CONCLUSIONS: Outcomes of the present study suggest abnormal brain maturation among HIV-infected pediatric survivors. Longitudinal studies of brain integrity and related resilience factors are needed to determine the impact of neuroimaging abnormalities on psychosocial function in pediatric HIV.

Clinical prediction rules for failed nonoperative reduction of intussusception.

PURPOSE: The nonoperative reduction of intussusception in children can be performed safely if there are no contraindications. Many risk factors associated with failed reduction were defined. The aim of this study was to develop a scoring system for predicting the failure of nonoperative reduction using various determinants. PATIENTS AND METHODS: The data were collected from Chiang Mai University Hospital and Siriraj Hospital from January 2006 to December 2012. Inclusion criteria consisted of patients with intussusception aged 0-15 years with no contraindications for nonoperative reduction. The clinical prediction rules were developed using significant risk factors from the multivariable analysis. RESULTS: A total of 170 patients with intussusception were included in the study. In the final analysis model, 154 patients were used for identifying the significant risk factors of failure of reduction. Ten factors clustering by the age of 3 years were identified and used for developing the clinical prediction rules, and the factors were as follows: body weight <12 kg (relative risk [RR] =1.48, P=0.004), duration of symptoms >48 hours (RR =1.26, P<0.001), vomiting (RR =1.63, P<0.001), rectal bleeding (RR =1.50, P<0.001), abdominal distension (RR =1.60, P=0.003), temperature >37.8°C (RR =1.51, P<0.001), palpable mass (RR =1.26, P<0.001), location of mass (left over right side RR =1.48, P<0.001), ultrasound showed poor prognostic signs (RR =1.35, P<0.001), and the method of reduction (hydrostatic over pneumatic, RR =1.34, P=0.023). Prediction scores ranged from 0 to 16. A high-risk group (scores 12-16) predicted a greater chance of reduction failure (likelihood ratio of positive [LR+] =18.22, P<0.001). A low-risk group (score 0-11) predicted a lower chance of reduction failure (LR+ =0.79, P<0.001). The performance of the scoring model was 80.68% (area under the receiver operating characteristic curve). CONCLUSION: This scoring guideline was used to predict the results of nonoperative reduction and forecast the prognosis of the failed reduction. The usefulness of these prediction scores is for informing the parents before the reduction. This scoring system can be used as a guide to promote the possible referral of the cases to tertiary centers with facilities for nonoperative reduction if possible.

A mediastinal mass resembling lymphoma: an unusual manifestation of probable case of invasive zygomycosis in an immunocompetent child.

A 2-year-old girl presented with prolonged fever and progressive dyspnea for 3 weeks. A chest radiograph revealed a left lung infiltrate and associated pleural effusion. Echocardiography revealed a large posterior mediastinal mass extending to the left atrial wall and massive pericardial effusion. The presumptive diagnosis was lymphoma. At operation, a large brownish-yellow mass was noted at the posterior mediastinum, with matted hilar, and subcarinal lymph nodes. Pericardial and pleural effusions with left lung consolidation were also noted. Histopathological examination of biopsy specimens revealed a granulomatous inflammatory reaction with a diffuse eosinophilic infiltrate and broad septated fungal hyphae with right angle branching compatible with zygomycosis. Surgical removal of the mass could not be performed due to the adjacent great vessels and carina. She subsequently died from airway obstruction and respiratory failure ten days later.

Sirenomelia type VI (sympus apus) in one of dizygotic twins at Chiang Mai University Hospital.

Those born with sirenomelia, a rare congenital anomaly, have features resembling a mermaid. Characteristics of sirenomelia are a single lower limb, sacral and pelvic bone defects, and anorectal and urogenital malformations. There is an increased incidence of sirenomelia in males and twins. This case was a preterm male, dizygotic twin and product of in vitro fertilisation. The baby was born by caesarean section due to breech presentation. He was found to have a fused lower extremity and absent external genitalia and anus. The baby passed away shortly after birth due to severe respiratory failure. Radiographic findings showed small lung volume and pneumothoraces. There were multiple segmental fusions of the vertebrae. Single femur and single tibia were presented in a fused lower limb. Autopsy demonstrated large intestinal atresia, intra-abdominal testes, absence of kidney, ureter and bladder, single umbilical artery, agenesis of blood vessels at lower extremity and agenesis of sacrum and coccyx.

Pulmonary hypertension in non-transfusion-dependent thalassemia: Correlation with clinical parameters, liver iron concentration, and non-transferrin-bound iron.

BACKGROUND: Pulmonary hypertension is a major cardiac complication in non-transfusion-dependent thalassemia (NTDT). Several clinical and laboratory parameters, including iron overload, have been shown to have a positive correlation with the incidence of pulmonary hypertension. Non-transferrin-bound iron (NTBI) is a form of free-plasma iron that is a good indicator of iron overload. OBJECTIVES: The aim of this study was to determine the prevalence of pulmonary hypertension in patients with NTDT and to investigate its correlation with the clinical parameters, liver iron concentration (LIC) and NTBI. METHODS: Patients with NTDT were evaluated using echocardiography, and magnetic resonance imaging for cardiac T2* and LIC. Pulmonary hypertension was defined as peak tricuspid regurgitation velocity ≥2.9 m/s measured using trans-thoracic echocardiography. Clinical parameters and the status of iron overload as determined by LIC, serum ferritin, and NTBI level were evaluated for their association with pulmonary hypertension. RESULTS: Of 76 NTDT patients, mean age 23.7 ± 8.5 years, seven patients (9.2%) had pulmonary hypertension. Previous splenectomy (71.4 vs. 24.6%, P-value 0.019), higher cumulative red blood cell (RBC) transfusions (received ≥10 RBC transfusions 85.7 vs. 33.3%, P-value 0.011), higher nucleated RBCs (353 ± 287 vs. 63 ± 160/100 white blood cells, P-value <0.001), and a high NTBI level (5.7 ± 3.0 vs. 3.3 ± 2.8 µmol/l, P-value 0.034) were associated with pulmonary hypertension. There was no significant correlation between LIC or serum ferritin and pulmonary hypertension. CONCLUSION: Pulmonary hypertension in NTDT is common, and is associated with splenectomy and its related factors. NTBI level shows a significant correlation with pulmonary hypertension.