Hirschsprung-associated congenital anomalies

Between 1976-1993, 302 patients were diagnosed to have Hirschsprung's disease (HD) in Hacettepe University Children's Hospital. All patients have been searched for the occurrence of associated anomalies and other parameters including 1) sex, 2) gestational age, 3) birth weight, 4) length of aganglionic segment, 5) familial occurrence, 6) consanguinity. Forty-nine of 302 patients were proved to have 83 associated congenital anomalies together with HD. Distribution of anomalies was as follows; central nervous system and special senses 28.92%, genitourinary system 26.51%, skeletal 24.09%, gastrointestinal 12.05%, cardiovascular 8.43%. In eleven patients more than one anomaly involving different systems were detected; only one of these patients was female and six of them have shown short segment disease. Down's syndrome was present in 5 patients. Female: male ratio was 1:4.2 for the whole series and 1:6 for the patients with Hirschsprung associated congenital anomalies (HACA). In the HACA group the percentage increased in favor of long-segment and extensive aganglionosis without statistical significance (p>0.05). The majority of patients were term babies and their birth weights were between 2500g < 3500g. Consanguinity was present in 36 families. No affected parents were detected but two sisters and four brothers were proved to have HD. Three pairs of twins, one of which was monozygotic, and all showing discordance were detected. There was no difference between HACA group and HD without HACA in terms of sex, birth weight, length of aganglionic segment and consanguinity. Although HD seemed to be genetically heterogeneous HACA did not have a genetically different origin from that of HD.     

Screening of congenital anomalies in the mid-trimester of pregnancy. Prospective epidemiologic study. Developmental anomalies

Authors report about the data of 60,000 pregnant women from three district counties of Eastern-Hungary between 1988 and 1990, on whom both ultrasound and alfa-fetoprotein screenings were performed. They demonstrate the value of this screening for the detection of fetal malformations and for the birth prevalence rate as well. This effective screening-protocol is proposed for a nation-wide application.     

Postoperative prognosis of congenital cardiac anomalies

Congenital cardiac anomalies cannot be merely classified as "less", "more", and "very" complex. However, postoperative prognosis is also determined by: the wide variability in severity of certain anomalies; their frequent association with other cardiac or non-cardiac malformations; age at the time of surgery; the era, mode and quality of initial and subsequent treatment. Chosen examples will illustrate how recent progress has altered prognosis. The role of early, specific and multidisciplinary care in an appropriate center is emphasized.     

Pancreatic function and congenital duodenal anomalies

Six children operated on for congenital anomalies of the duodenum were investigated to find out if pancreatic dysfunction was associated with the duodenal malformation, even in the absence of clinical evidence of pancreatic insufficiency. None of the children had diarrhea and none requested nutritional support. Pancreatic function was assessed by enzyme activities (lipase, trypsin, and chymotrypsin) bicarbonate and calcium measurements in pancreatic juice obtained through a nasoduodenal tube under stimulation by secretin and cerulein. Results showed no significant modification in hydro-electrolytic secretion, but impairment of enzymatic secretion was seen. The physiopathological relationship between duodenal anomalies and pancreatic dysfunction is discussed.     

Ehlers-Danlos syndrome and congenital heart anomalies

OBJECTIVE: To study the effects of octreotide on portal pressure and the relationship between the portal pressure and portal hemodynamics measured by color Doppler. METHODS: A high portal resistance model by injecting bletilla hyacinthina was established in 6 dogs. The portal pressure and portal hemodynamics studied by color Doppler were measured respectively by two investigators before and after injecting octreotide into the peripheral vein. RESULTS: Portal hypertension was caused by injecting bletilla hyacinthina into the portal vein. The portal pressure was reduced and portal venous velocity increased after injecting octreotide into the peripheral vein. There was a significant negative correlation between the portal pressure and portal venous velocity. CONCLUSION: Color Doppler is helpful in evaluating the effects of octreotide on the portal pressure.     

Ultrasound screening for congenital uterine anomalies

The aim of this study was to investigate the prevalence of congenital uterine anomalies in 1046 women attending gynaecological ultrasound clinics for a variety of indications. Using three-dimensional ultrasound, anomalies were found in 55 women (5.4%), including 32 (3.1%) with an arcuate uterus and 23 (2.3%) with major anomalies. The prevalence of uterine anomalies was similar to the findings in women undergoing elective sterilisation, but lower than in studies of women with recurrent miscarriage.     

Hemangiopericytoma-like intranasal tumors. A clinicopathologic study of 23 cases

The clinical, microscopic, and gross pathologic features of 23 cases of intranasal hemangiopericytoma-like tumors are reviewed and studied. When in the nasal cavity, these lesions often originated in a paranasal sinus and extended into the nasal cavity secondarily. They occurred most commonly in adults in the sixth and seventh decades of life; there was no significant sex predilection. Twenty-two of the 23 patients were Caucasian. These patients most commonly had symptoms of nasal obstruction and epistaxis. Clinically the lesions were generally thought to represent allergic polyps. Although appearing microscopically as non-differentiated spindle-cell neoplasms, these lesions showed little nuclear or cytoplasmic pleomorphism, minimal mitotic activity, and no necrosis or hemorrhage or other evidence of anaplasia found in malignant tumors. Follow-up data showed no evidence to suggest a malignant or biologically unpredictable lesion. Nineteen of 22 cases followed showed no recurrence regardless of the treatment; those that recurred did so locally. No metastasis or other form of aggressive behavior attributed to hemangiopericytomas in other anatomic locations was seen in this series. Another case, diagnosed as a malignant hemangiopericytoma of the nasal cavity, showed dissimilar and anaplastic histologic features. This case metastasized and is discussed, though not included in this study.     

Common congenital anomalies of the female genital tract

The impact of common congenital anomalies of the female genital tract is hugely variable. Some anomalies are asymptomatic chance findings requiring no intervention. Others have a major impact on the potential for sexual activity and fertility. A good knowledge of basic embryology is important to understand the pathogenesis and clinical features of these anomalies. All gynaecologists should be aware of these conditions and possible clinical presentations. Whilst some conditions, such as imperforate hymen require a simple surgical intervention, other more complex anomalies need careful assessment and accurate pre-operative assessment to optimise the long-term outcomes. The contribution of uterine anomalies to subfertility is poorly understood and the role of uterine surgery needs further research.     

MR imaging of congenital anomalies of the thoracic veins

Congenital anomalies of the thoracic veins are infrequent but important developmental abnormalities. Thoracic venous anomalies can be classified as systemic or pulmonary. Systemic venous anomalies are often incidental findings, whereas pulmonary venous anomalies are more likely to manifest with cyanosis and to be associated with congenital cardiac abnormalities, especially atrial septal defect. Magnetic resonance (MR) imaging provides excellent delineation of the abnormal vessels and associated cardiac defects. Conventional spin-echo (SE) techniques show blood flow as a signal void and are sufficient for demonstrating the aberrant venous anatomy in most cases. Gradient-echo images show flowing blood as high signal intensity and are useful for clarifying the course of anomalous veins when vessel walls are difficult to visualize on SE images. Phase-contrast images are valuable for ascertaining the direction of blood flow and thus provide a physiologic method of distinguishing the vertical vein of anomalous pulmonary venous return from a left superior vena cava. MR imaging is useful for delineating both the thoracic venous and accompanying intracardiac anomalies and is a valuable, complementary technique to echocardiography, angiography, and computed tomography in the evaluation of patients with these abnormalities.     

Ct of congenital anomalies of the inferior vena cava

The authors report six congenital abnormalities of the inferior vena cava detected on computed tomography (CT). The CT findings of one of these, the left inferior vena cava, have not been previously reported. The embryology of the inferior vena cava and the possible congenital abnormalities that can occur are discussed. Congenital abnormalities of the inferior vena cava are rare but potentially important to the radiologist, the surgeon, and the patient. They are easily identified on CT and should be considered when interpreting any CT of the abdomen or chest.     

Tracheobronchial anomalies in children with congenital cardiac disease

OBJECTIVE: To perform preoperative airway evaluations, using radiographic analysis, to review the tracheal anatomy in children with congenital cardiac disease. DESIGN: Prospective. SETTING: A university children's hospital. PARTICIPANTS: One hundred patients. MEASUREMENTS AND MAIN RESULTS: One magnified airway film (high kilovoltage filtered) was performed preoperatively on 100 consecutive children presenting for repair of congenital cardiac disease. Events at intubation, with respect to endotracheal tube size (internal diameter in millimeters) and difficulties with placement of the tube, were recorded. Postoperative morbidity, specifically related to underlying airway anomaly, was documented. Eleven children had positive radiographic findings after review of magnified airway films. Six of 11 patients had evidence of tracheobronchial pathology, and five patients had no tracheal pathology. Difficulties with intubation were noted in two children. No perioperative morbidity was noted in any patient. CONCLUSION: The use of preoperative magnified airway films for tracheal evaluations in children with cardiac disease should be considered.     

Basal cell carcinomas of the auricular region: a study of 23 cases

Basal cell carcinomas (BCCs) of the auricular region are not frequently reported, especially in the Japanese literature. Predisposing conditions such as sun exposure or frostbite are possibly involved in their development. In this study, we report our cases of auricular BCCs, discussing the obtained results, the possible significance of predisposing conditions, and the correlation with the histologic subtypes involved. Among 1094 patients with BCCs, auricular tumors were observed in 23 patients (2.1%), 4 women and 19 men. All of them were present on the external sun-exposed auricular side. Histologic patterns were nodular and micronodular (13 cases) and infiltrative (10 cases). No differences were observed between sexes. The relative degree of elastosis was higher in men than in women. Frostbite was recorded in 4 cases. The ear is an anatomical region that is heavily exposed to sun-light and equally prone to frostbite. Our data showed that all the lesions were located on the auricular region more or less exposed to sunlight. There was a recorded previous history of predisposing factors in most cases, and the high degree of elastosis suggests the involvement of these predisposing factors. Moreover, the high prevalence of infiltrative subtypes observed in our survey suggests a possible correlation between some histologic subtypes, sun-exposure, and frostbite. The differences between the relatively high number of auricular BCCs reported in the literature in contrast with the Japanese observations suggest the involvement of social or local conditions.     

The position of symbrachydactyly in the classification of congenital hand anomalies

The clinical features of 53 cases of intercalated hypoplasia and 113 cases of distal aplasia are reviewed and compared with each other and with 129 cases of syndactyly. Tri-, di- and mono-phalangeal symbrachydactyly, and adactyly with nubbin digits are consecutive anomalies. Transverse deficiency may result if the mesenchyme is damaged severely, and if damage is mild and formation has continued, intercalated transverse deficiency may occur. Webbing in symbrachydactyly may result from failure of the apical ectodermal ridge under the influence of damaged mesenchyme.     

Cytogenetic study of families with habitual abortions

This article introduces a simple coordination system for two or more infusion liquids. Solutions drip down one after the other in a continuous flow, with no attendance required, two or more infusion containers being connected in a way described below. There is no intermingling of solutions when using non-rigid containers, and only a slight one when using glass or plastic material. The check valves work through the pressure exerted by the columns of liquid, the containers being placed on different levels. The essential advantages are: less discomfort and less danger for patients and staff. The system can be used for a washing drainage.     

Detection of congenital müllerian duct anomalies using three-dimensional ultrasound

PURPOSE: The purpose of this study was to assess the value of 3-dimensional sonography in the diagnosis of congenital müllerian duct anomalies, which cause infertility, preterm labor, and first trimester abortion. METHODS: A prospective study was undertaken in which 40 patients with histories of repeated spontaneous abortions or infertility were first examined using conventional 2-dimensional sonography or hysterosalpingography. Three-dimensional transvaginal sonography was then performed. RESULTS: Twenty-eight women had müllerian duct abnormalities, and 12 women had normal uterine anatomy. Müllerian duct defects detected in this study were unicornuate uterus (3), bicornuate uterus (3), complete or partial septate uterus (12), arcuate uterus (9), and didelphic uterus (1). The diagnosis of müllerian duct anomalies in these patients was confirmed by laparoscopic and/or hysteroscopic examinations. Three-dimensional sonography demonstrated all congenital uterine abnormalities with a sensitivity and specificity of 100%. Separate uterus and bicornuate uterus could be correctly diagnosed using 3-dimensional sonography in 11 (92%) of 12 cases and 3 (100%) of 3 cases, respectively. These 2 abnormalities were commonly confused with each other using hysterosalpingography and conventional sonography. CONCLUSIONS: Three-dimensional sonography with image reconstruction is less expensive and less invasive than hysterosalpingography for the assessment of uterine anatomy and diagnosis of müllerian duct abnormalities. The ability to visualize both the uterine cavity and the myometrium on a 3-dimensional scan facilitates the diagnosis of uterine anomalies and enables the differentiation of septate from bicornuate uteri for preoperative surgical planning.     

Neoplastic transformation of chronic ulcers in leprosy patients--a retrospective study of 23 consecutive cases

The costimulatory CD80 and CD86 molecules were measured by flow cytometry on cerebrospinal fluid (CSF) and blood lymphocytes from patients with possible first attacks of multiple sclerosis (MS, n = 25), clinically definite MS (n = 16), and noninflammatory neurological disease control subjects (n = 30). In patients with demyelinating diseases more CSF B cells expressed CD80 than in control subjects whereas the expression of CD86 by T cells in CSF was low in patients with demyelinating disease and highly variable in the control subjects. In patients with possible first attacks of MS the expression pattern of CD80 and CD86 differed significantly between patients with or without intrathecal synthesis of IgG. Increased expression of the CD80 molecule on CSF B cells may be of importance in the pathogenesis of MS. In contrast, CSF T cell expression of CD86 may be associated with protection from MS.     

Three cases of metaldehyde poisoning in cattle

Poisoning of dairy cows and of calves by metaldehyde is reported. The clinical signs, post mortem and toxicological findings are described. Confirmations of the diagnoses was obtained by biochemical estimations. It would appear that a dose as low as 0.2 g/kg in adult cattle, and even less in calves, can be lethal.