Methylmalonic acidemia presenting as persistent pulmonary hypertension of the newborn.

Persistent pulmonary hypertension of the newborn (PPHN) results from disruption of the normal fetal-neonatal circulatory transition and may be associated with meconium aspiration, group B streptococcal sepsis, pneumonia, respiratory distress syndrome, congenital diaphragmatic hernia and pulmonary hypoplasia. Seventeen percent of cases are considered idiopathic since there is no identifiable cause. Although it is recognized that acidosis and hypoxia from any cause in neonates may produce pulmonary vasoconstriction and maintain pulmonary hypertension, PPHN has not been reported in inborn errors of metabolism (IEM) associated with metabolic acidosis like methyl malonic acidemia (MMA). We report the first case in the literature of MMA presenting concomitantly with PPHN. Undiagnosed IEMs, like MMA, could represent a subset of idiopathic cases of PPHN. Infants and neonates have a limited repertoire with which to respond to an overwhelming illness. Because metabolic diseases are rare, they are considered only after excluding more common causes of neonatal distress. PPHN is therefore more likely to be attributed to meconium aspiration, sepsis, pneumonia or respiratory distress syndrome than to an IEM. The advent of expanded newborn screening has made pre-symptomatic diagnosis of several IEMs including MMA possible. However, not all IEMs are identified, and in some instances, an infant who has an IEM may become ill before the results of the newborn screen become available. Early diagnosis of IEM is crucial to prevent catastrophic consequences and the awareness of an association with PPHN would lead to an aggressive search of an underlying IEM and its management.

Unusual radiological appearance of a faecaloma.

Faecaloma is a hardened, relatively immobile, tumour-like mass of accumulated faeces, usually found in the rectosigmoid region. Rarely, a faecaloma may be observed in other locations along the colon. It is a rare condition but has important complications, including ulceration, perforation and obstruction. The diagnosis is important not only to avoid confusion with neoplasm but also to alert the physician to the possibility of complications. Here we present a case of faecaloma, including the clinical and radiological difficulties in the diagnosis.

PGE2/TXB2 imbalance in neonatal hypoxemic respiratory failure.

BACKGROUND: An imbalance of vaso-constrictor and -dilator mediators has been implicated in the pathogenesis of the pulmonary hypertension accompanying neonatal hypoxemic respiratory failure (NHRF). AIM: To characterize plasma PGE2, TXB2 and their ratio in normal newborns and in those with NHRF. METHODS: Twenty newborns with NHRF received inhaled PGE1 (IPGE1) by jet nebulizer in doses of 25, 50, 150 and 300 ng/kg/min followed by weaning. Blood for PGE2 and TXB2 assay using EIA was available in 8 neonates with NHRF prior to IPGE1. Umbilical cord arterial samples were also obtained at delivery from 10 normal newborns to serve as controls. RESULTS: Compared to normal newborns, those with NHRF had significantly lower PGE2/TXB2 ratios after controlling for preterm gestation (< 37 weeks) and postnatal age (p < 0.05). Notably, all subjects except one in the NHRF group had a value of < 1.0 (range 0.1-1.2) compared to a value of > 1.0 in all subjects in the Control group (range 1.1-5.2). CONCLUSIONS: Lower PGE2/TXB2 ratio in subjects with NHRF compared with controls reflects a predominance of vaso-constrictor activity in these patients as the basis of pulmonary hypertension. Plasma PGE2/TXB2 ratio may have important implications for the diagnosis and treatment of NHRF.

Congenital hepatic arteriovenous malformation: an unusual cause of neonatal persistent pulmonary hypertension.

Congenital hepatic arteriovenous malformations are rare anomalies, which typically present in infancy with congestive heart failure, anemia, and hepatomegaly. Morbidity and mortality is high if the condition is not recognized and treated promptly. Hepatic arteriovenous malformation associated with persistent pulmonary hypertension of the newborn has been reported in two cases in the literature. We report a neonate who was referred for management of persistent pulmonary hypertension and was subsequently diagnosed with a large hepatic arteriovenous malformation. He underwent coil embolization following which pulmonary hypertension resolved.

Development of a computer software for easy storage and analysis of fibreoptic bronchoscopy data.

OBJECTIVE: To develop a simple software for management of fibreoptic bronchoscopy records. METHODS: After identification of the specific needs at our hospital, a software was developed. A graphical interface with structured data entry related to patient information and diagnosis, bronchoscopic findings and specimens obtained, and their reports were envisaged. After initial construction, the software was tested over a four-week period. The software was put to routine use after necessary corrections, and validated over the next few months through actual data entry. RESULTS: The software has various modules for input and modification of data, as well as for generation of reports, and can work both on stand-alone personal computers and on networks. With little practice, residents soon became adept at entering details correctly and quickly. The slightly increased time of data entry into the computer was more than made up by uniform and complete report generation. The database component was evaluated by analyzing 1000 consecutive records entered over a 14-month period, and no discrepancies were observed. CONCLUSION: A user-friendly software providing uniform and complete data entry regarding fibreoptic bronchoscopic procedures was developed.

Stroke at moderate altitude.

OBJECTIVE: To know the clinical profile, presence of various risk factors for stroke at moderate altitude and to study its relationship with hypertension and polycythemia at moderate altitude. METHODS: We analyzed the data of 100 patients, consecutively admitted to a hospital situated at an moderate altitude of 2200 meters MSL of Sub-Himalayan ranges and studied the age, gender, geographical distribution, clinical features and presence of various risk factors in relation to stroke. This is not only the first study conducted in Himachal Pradesh but also first study in India to be conducted at moderate altitude (2000-3000 meters MSL). RESULTS: Males outnumbered females (66% males, 34% females) with rural predominance (73% rural, 27% urban). Cerebral infarction (69%) was more common but primary intracerebral haemorrhage (26%) was more common than found in the West. Hypertension (62%) and smoking (60%) were most common risk factors present and polycythemia was not a significant risk factor at this altitude. CONCLUSION: Incidence of stroke was found to be lower than the study conducted at low altitude. incidence of various types of stroke was similar to other Indian studies. The combination of opposite effects of decreased hypertension and increased haematocrit could not be demonstrated at this altitude and smoking was more common than in other studies and other risk factors prevalent were same as that for low altitude.

Neurocysticercosis presenting with psychosis.

Cysticercosis consists of infection with the small bladder-like larvae of the pork tapeworm Taenia solium. The life cycle of parasite is maintained between man and pig infected with cysticerci. Epilepsy is the most common presentation of neurocysticercosis; focal signs, headache, involuntary movements and global mental deterioration are other symptoms. Psychosis is a rare presentation and may be seen in up to 5% of patients. We present a 25 years old male, who had been under treatment from psychiatry OPD for psychosis for one year, developed generalized tonic-clonic seizures. CT scan of brain revealed multiple calcified and hypodense lesions with surrounding oedema. Histopathological examination of subcutaneous nodule confirmed the diagnosis of neurocysticercosis.

Duodenal diverticular haemorrhage in a patient taking NSAID.

We present a 55 years old male with severe anemia with history of pain abdomen for 2 weeks and malena of 10 days duration. He was taking NSAID (Diclofenac sodium). Upper GI endoscopy done twice did not reveal any abnormality. Upper gastrointestinal (UGI) barium series with small bowel follow through revealed a diverticulum on medial wall of second part of duodenum and there was evidence of ulcer in diverticulum. He underwent diverticulectomy. On follow up after 6 months patient was asymptomatic.

Concomitant cisplatin and extended field radiation therapy in patients with cervical and endometrial cancer.

The purpose of this study is to evaluate the toxicity and safety of concomitant cisplatin (CDDP) and extended field radiation therapy (EFRT) in patients with cervical cancer (CxCA) and endometrial cancer (EnCA). Twenty-five patients were analyzed retrospectively for treatment-related morbidity from 1989 to 1998. Fourteen patients had CxCA and 11 patients had EnCA. Eighteen patients (72%) had surgery prior to radiotherapy and chemotherapy. EFRT was delivered by a four-field technique to the pelvis and para-aortic regions. CDDP at 100 mg/m2 was given over 5 days during 1st and 4th week of EFRT. EFRT dose for EnCA and CxCA was 45 Gy. Toxicity was analyzed using the RTOG toxicity criteria. Twenty-four (96%) of the 25 patients completed the prescribed therapy. Of the 14 patients with CxCA, three (21%) had no toxicity, three (21%) had grade 1-2, and eight (58%) had grade 3-4 hematologic toxicities. Overall six (24%) had grade 3-4 acute gastrointestinal toxicities, three (21%) of these patients were treated for cervix cancer and three (27%) patients were treated for endometrial cancer. The worst (Grade 3-4) toxicities in 15 patients occurred after the 4th week of radiotherapy. In six of 25 (24%) patients radiation treatments had to be delayed due to toxicities. The median delay of treatment was 10.5 days (range 7-31 days). Of the six patients who had grade 3-4 acute gastrointestinal toxicities, four (66%) had undergone exploratory laparotomy and lymph node sampling prior to start of chemoradiation. We conclude that concomitant EFRT and CDDP appears to be safe with moderate but manageable toxicity. Toxicity is most severe after the 4th week of treatment. Morbidity may be worse in patients with prior laparotomy.

Imaging features of esophageal leiomyomatosis: a case report.

Leiomyomas are the most common benign tumors of the esophagus. However, esophageal leiomyomatosis is a rare pathologic entity that has received little attention in the radiologic literature. We present a case of esophageal leiomyomatosis with imaging features on barium swallow and computed tomography (CT).

Image-guided fine-needle aspiration cytology of deep-seated enlarged lymph nodes.

PURPOSE: To evaluate the role of image-guided fine-needle aspiration cytology (FNAC) of deep-seated lymph nodes. MATERIAL AND METHODS: Image-guided FNACs were performed on 242 patients of deep-seated lymph nodes which included thoracic, retroperitoneal and abdominal nodes. A sterile 3.5/5-MHz micro convex sector probe was used for localisation of the node. The FNAC was performed using a 0.7- to 0.9-mm needle with the stylet removed and attached to a 20-ml syringe and FNAC handle after the needle was visualised in the lesion. For each case a minimum of 4-5 smears were made, and two observers without bias interpreted the smears. RESULTS: A total of 242 patients were aspirated, of which 216 (90%) aspirations were US-guided and the remaining 26 (10%) were CT-guided. Adequate material for cytologic diagnosis was obtained in 208 (86%) patients with a similar diagnostic accuracy. The aspirate material was non-representative or scanty in 34 (14%) patients. The most common cytological diagnosis was tuberculosis/consistent with tuberculosis seen in 108 (45%) patients followed by metastasis (17%) and reactive hyperplasia (10%). Non-Hodgkin lymphoma was diagnosed in 22 (9%) patients. All patients were briefly followed for a period of 1 1/2 to 2 years (mean 1 year). CONCLUSION: Image-guided FNAC has a pivotal role, and is a cost-effective tool for establishing tissue diagnosis as a primary investigative modality. It is also helpful and accurate in follow-up of patients with a known malignant disease, thereby avoiding surgical intervention.

Prenatal alcohol exposure and childhood behavior at age 6 to 7 years: I. dose-response effect.

OBJECTIVE: Moderate to heavy levels of prenatal alcohol exposure have been associated with alterations in child behavior, but limited data are available on adverse effects after low levels of exposure. The objective of this study was to evaluate the dose-response effect of prenatal alcohol exposure for adverse child behavior outcomes at 6 to 7 years of age. METHODS: Beginning in 1986, women attending the urban university-based maternity clinic were routinely screened at their first prenatal visit for alcohol and drug use by trained research assistants from the Fetal Alcohol Research Center. All women reporting alcohol consumption at conception of at least 0.5 oz absolute alcohol/day and a 5% random sample of lower level drinkers and abstainers were invited to participate to be able to identify the associations between alcohol intake and child development. Maternal alcohol, cigarette, and illicit drug use were prospectively assessed during pregnancy and postnatally. The independent variable in this study, prenatal alcohol exposure, was computed as the average absolute alcohol intake (oz) per day across pregnancy. At each prenatal visit, mothers were interviewed about alcohol use during the previous 2 weeks. Quantities and types of alcohol consumed were converted to fluid ounces of absolute alcohol and averaged across visits to generate a summary measure of alcohol exposure throughout pregnancy. Alcohol was initially used as a dichotomous variable comparing children with no prenatal alcohol exposure to children with any exposure. To evaluate the effects of different levels of exposure, the average absolute alcohol intake was relatively arbitrarily categorized into no, low (>0 but <0.3 fl oz of absolute alcohol/day), and moderate/heavy (>/=0.3 fl oz of absolute alcohol/day) for the purpose of this study. Six years later, 665 families were contacted. Ninety-four percent agreed to testing. Exclusions included children who missed multiple test appointments, had major congenital malformations (other than fetal alcohol syndrome), possessed an IQ >2 standard deviations from the sample mean, or had incomplete data. The Achenbach Child Behavior Checklist (CBCL) was used to assess child behavior. The CBCL is a parent questionnaire applicable to children ages 4 to 16 years. It is widely used in the clinical assessment of children's behavior problems and has been extensively used in research. Eight syndrome scales are further grouped into Externalizing or undercontrolled (Aggressive and Delinquent) behavior and Internalizing or overcontrolled (Anxious/Depressed, Somatic Complaints, and Withdrawn) behaviors. Three syndromes (Social, Thought, and Attention Problems) fit neither group. Higher scores are associated with more problem behaviors. Research assistants who were trained and blinded to exposure status independently interviewed the child and caretaker. Data were collected on a broad range of control variables known to influence childhood behavior and/or to be associated with prenatal alcohol exposure. These included perinatal factors of maternal age, education, cigarette, cocaine, and other substances of abuse and the gestational age of the baby. Postnatal factors studied included maternal psychopathology, continuing alcohol and drug use, family structure, socioeconomic status, children's whole blood lead level, and exposure to violence. Data were collected only from black women as there was inadequate representation of other racial groups. STATISTICAL ANALYSES: Statistical analyses were performed using the SPSS statistical package. Frequency distribution, cross-tabulation, odds ratio, and chi(2) tests were used for analyzing categorical data. Continuous data were analyzed using t tests, analyses of variance (ANOVAs) with posthoc tests, and regression analysis. RESULTS: Testing was available for 501 parent-children dyads. Almost one fourth of the women denied alcohol use during pregnancy. Low levels of alcohol use were reported in 63.8% and moderate/heavy use in 13% of pregnancies. Increasing prenatal alcohol exposure was associated with lower birth weight and gestational age, higher lead levels, higher maternal age, and lower education level, prenatal exposure to cocaine and smoking, custody changes, lower socioeconomic status, and paternal drinking and drug use at the time of pregnancy. Children with any prenatal alcohol exposure were more likely to have higher CBCL scores on Externalizing (Aggressive and Delinquent) and Internalizing (Anxious/Depressed and Withdrawn) syndrome scales and the Total Problem Score. The odds ratio of scoring in the clinical range for Delinquent behavior was 3.2 (1.3-7.6) in children with any prenatal exposure to alcohol compared with nonexposed controls. The threshold dose was evaluated with the 3 prenatal alcohol exposure groups. One-way ANOVA revealed a significant between group difference for Externalizing (Aggressive and Delinquent) and the Total Problem Score. (ABSTRACT TRUNCATED)

Blood transfusion practices in India: results of a national survey.

BACKGROUND: Blood transfusion may lead to serious clinical consequences for the recipient, if the transfused blood is not safe. To assess the functioning of the blood banks in India, a nation-wide, questionnaire-based study was conducted between November 1995 and November 1996 under the auspices of the Indian Association for Study of the Liver. METHODS: Of 604 blood banks in 31 states and union territories to whom the questionnaires were sent, responses wereobtained from 78 (13%) blood banks in 17 (54.8%) states, providing information on 275,000 donors. RESULTS: A majority (58%) of donors in these blood banks were replacement donors, followed by voluntary (39.3%) donors. About 87% of the respondent blood banks screen blood for hepatitis B, 95% for HIV, 94% for syphilis, 67% for malaria, and only 6% for hepatitis C. Marked heterogeneity in the test methods was observed with only 13% using ELISA kits for HBsAg. Only 21% of the blood banks prepare blood-derived components. Feedback to the blood banks on the occurrence of transfusion-associated hepatitis is given on less than 40% of occasions. CONCLUSIONS: Testing for transfusion-transmitted infections is unsatisfactory and poorly regulated in India. Reporting of adverse events after transfusion is poor and no stringent donor deferral system exists.

Carcinoma of the gallbladder: role of sonography in diagnosis and staging.

PURPOSE: In an attempt to define the sonographic characteristics of gallbladder cancer, we retrospectively analyzed the sonographic findings in 203 cases of gallbladder cancer confirmed by cytology or histopathology. Patients and Methods Patients with proven gallbladder cancer presenting to a single surgical unit between 1991 and 1995 were identified through a records search. All patients underwent sonographic examination followed by fine-needle aspiration (FNA), biopsy, or laparotomy for establishing the diagnosis. RESULTS: A mass in the gallbladder and gallbladder wall thickening (> 12 mm) were cardinal sonographic findings of carcinoma. Liver infiltration was correctly identified in all patients who had it. Sonography was highly accurate for detecting mass lesions, gallstones, liver infiltration, metastasis, and ascites. However, visualization of lymph nodes, common bile duct infiltration, and peritoneal dissemination was poor. CONCLUSIONS: Sonography was found to be a good diagnostic tool for carcinoma of the gallbladder; however, its sensitivity was poor for staging nodal spread of the disease.