Antenatal diagnosis and surgical management of congenital cystic adenomatoid malformation of the lung

We experienced 12 cases of congenital cystic adenomatoid malformation of the lung (CCAM) including 6 cases diagnosed antenatally. They were classified into three groups according to the clinical manifestations. Group A was associated with hydrops fetalis (n = 3), group B presented with respiratory distress symptoms after birth (n = 6), and group C showed no respiratory symptoms (n = 3). All cases of group A were lost because of hydrops and respiratory failure due to pulmonary hypoplasia. Because a compression of the mass is thought to be a cause of hydrops, this group is considered to be a good indication for fetal treatment. All cases of group B showed progressive respiratory symptoms a few days after birth which were successfully treated surgically. In 2 of 3 cases of group C, the lesions decreased in size both antenatally and postnatally. We conclude that serial sonographic evaluations for fetal CCAM are important. If the fetus develops hydrops, fetal surgery is to be considered. If not, however, fetal surgery should not be done, because some lesions can shrink in size, or even disappear, while others can be treated successfully after birth by lobectomy or even segmentectomy.     

Pulmonary sequestration associated with a gastric duplication cyst

A case of right subdiaphragmatic extralobar pulmonary sequestration (PS) associated with a gastric duplication cyst is reported. To the authors' knowledge such a case has not been reported previously in the English literature. PS was first noted as a defect on a nuclear liver image. The duplication cyst was defined by ultrasonography. A review of the English literature is included.     

Imaging approach to the diagnosis of pulmonary sequestration

PURPOSE: To describe the characteristic features of pulmonary sequestration (PS), to evaluate the usefulness of various imaging modalities, and to find a rational approach to accurate diagnosis. MATERIAL AND METHODS: Twenty-four patients with PS proved by operation and pathology were reviewed retrospectively. Plain chest films were done in all patients, bronchography in 3, sonography in 14, CT in 6 (including CT angiography in 1 case), MR in 8 (including MR angiography in 1 case) and aortography in 12 (including DSA in 1 case). RESULTS: Plain chest films demonstrated a solid mass in 14 patients and a cystic mass in 10. Bronchograms showed displacement of adjacent bronchi with no filling of contrast medium within the lesion in 2 cases, while another case had a blind intermediate portion of the right bronchus (hypoplasia of middle and lower lobes associated with extralobar sequestration). Sonography demonstrated a solid lung mass in 12 cases and a solid mass with cystic areas in 2, and detected vessel-like structures within the mass or in its surroundings in 12. Doppler analysis showed arterial spectral wave confirming a feeding artery. CT revealed a solid mass in all patients, a mass with low density area in 4, and emphysema surrounding the mass in 3. MR imaging depicted anomalous arteries in all patients and venous drainage in 4 cases. Aortography demonstrated anomalous systemic arterial supply to the PS in all patients. In this series, 21 cases (87.5%) were correctly diagnosed preoperatively by the imaging modalities. CONCLUSION: Plain chest films can provide a diagnostic clue to PS. Sonography, CT and MR are helpful for showing arterial blood supply and for making a definite diagnosis. We recommend a rational imaging approach for the diagnosis of PS.     

Ultrasonography of cystic thyroid nodules: sonographic-pathologic correlation

Retrospectively the ultrasonographic findings of 153 surgically resected cystic thyroid nodules were reviewed. The pathologic findings in this series revealed that 86% were degenerating benign adenomas or adenomatous goiters, and 14% were malignant tumors. The sonographic appearance of these lesions was classified into 7 groups as follows: type I: entirely cystic (less than 1cm), type II: cystic(more than 1cm) [II(a)], and with small polyp or dome-like elevation on the cyst wall [II(b)], type III: larger cyst with projection (more than 1cm) into the lumen, type IV: cyst with a peripherally localized solid component, type V: irregularly mixed cystic and solid components, type VI: a solid mass with multiple crescentic cysts [VI(a)], or round cysts [VI(b)], type VII: a solid mass with only one or two cysts. Pathologic correlation revealed that malignancy in this series ranged from 80% in type III and V to only 4% in type II, where most of the lesions in this group were composed of granulation tissue in degenerating adenomatous polyps and cyst walls. Lesions in type IV showed malignancy rate of 40%. Type III showed characteristic sonographic findings seen in cystic papillary carcinomas (CPCs), with multiple punctate echogenic foci in large pedunculated projections. The typical psammomatous calcifications specific in this group were confirmed in 6 of the 8 type III CPCs. The multiple crescentic cysts in type VI(a) lesions were characteristic sonographic signs seen in adenomatous goiters, representing the pathologic finding of cysts forming around each of multiple adenomatous nodules in this group. Type VII represented non specific appearing lesions, included adenomas, adenomatous goiters, CPCs and follicular carcinomas.(ABSTRACT TRUNCATED AT 250 WORDS)     

Transient inhibition of L929 cell mitosis and locomotion by argon ion laser irradiation

A 48-year-old woman was admitted to our hospital because of abnormal shadow on the chest X-ray. Chest contrast CT scan showed roundly mass in the posterior mediastinum which were combined with and without contrast elements, and chest MRI (T2 weighted) showed high signal intensity. These features suggested mediastinal cyst or extralobar sequestration. The operation was performed through left 6th intercostal thoracotomy. Two different lesions connected to the mediastinum were confirmed, a cystic tumor and small accessory lung. The former was diagnosed as bronchogenic cyst and the latter as extralobar pulmonary sequestration.     

Lung function changes among recycling workers exposed to organic dust

OBJECTIVE: To describe the feasibility of diagnosing fetal congenital heart defects by transvaginal ultrasonography during the first trimester of pregnancy. METHODS: Pregnant women presenting to the Ultrasonographic Unit at the Chaim Sheba Medical Center who had a diagnosis of fetal heart defects were reviewed retrospectively. Attention was paid to prenatal ultrasound studies, karyotype, and pathologic examinations. RESULTS: Using high-resolution transvaginal ultrasonography, we were able to detect fetal tachycardia (one case), ectopia cordis with ventricular septal defect (one case), atrioventricular septal defect (two cases), ventricular septal defect with persistent truncus arteriosus (one case), tetralogy of Fallot (two cases), and large right atrium with unguarded tricuspid valve (Uhl disease) (one case). Seven of these fetuses had normal karyotypes and all showed additional sonographic abnormalities, including septated cystic hygroma (three cases), hydrops (ascites and pericardial effusions) (two cases), omphalocele (one case), and bilateral agenesis of kidneys (one case). Only one fetus with an abnormal karyotype (45,XO) showed a combination of septated cystic hygroma with hydrops. CONCLUSIONS: High-resolution duplex Doppler transvaginal ultrasonography during the first trimester of pregnancy seems to be a useful diagnostic method for detecting some congenital heart diseases.     

Inhibition of protein S by autoantibodies in patients with acquired protein S deficiency

This study was undertaken to analyze antibodies to protein S (PS) in patients with an acquired PS deficiency. Plasma from symptomatic patients with acquired (n = 14) or congenital (n = 10) PS deficiency and 10 healthy donors was screened for PS antibodies by immunoblotting and for anti-phospholipid antibodies. PS antibodies (IgG) were detected in five of the patients with acquired PS deficiency. These antibodies belonged to the G1 and G4 immunoglobulin subclasses. IgG fractions from the same 5 patients were shown to inhibit PS activity. The inhibition of PS activity by the 5 IgG fractions was shown to be time- and dose-dependent and was abolished following incubation with purified PS, while no effect was found after absorption with cardiolipin micelles. In addition, anticardiolipin monoclonal or human purified antibodies, failed to exert significant PS inhibition. These findings demonstrate that anti-PS antibodies are able to inhibit PS activity and that this is independent of anti-phospholipid antibodies. Given the clinical features of the patients, these antibodies should be regarded as an expression of the broad autoimmune syndrome involving the phospholipid-binding plasma proteins.     

Syphilitic uveitis in human immunodeficiency virus-infected patients

Congenital cystic adenomatoid malformation of the lung (CCAM) is characterized by an adenomatoid proliferation of bronchiole-like structures and cysts formation. The condition is most commonly found in newborns and children and it may be associated with other malformations; rarely, the presentation is delayed until adulthood. This paper presents a case of CCAM in a 62-year-old male, who presented with recurrent bacterial pneumonias and breathlessness one exertion. The chest X-rays and CT scan revealed a patchy opacity in the right lower pulmonary zone. Bronchoscopic examination was normal. At surgery, a mass involving the right lower and middle lobes, and enlargement of hilar lymph nodes were found. A bilobectomy was performed without complications. Examination of the gross specimen showed a lesion characterised by multiple small cysts, all less than 1 cm in diameter; they were lined predominately by columnar epithelium, occasionally by ciliated epithelium. Rare cysts were lined by foreign body giant cells. Elastic fibers and smooth muscle were present within the cysts wall. Peripherally, there were normal alveoli and bronchioli mixed with cysts, and plasmalymphocytic infiltrates. The final diagnosis was Stocker's Type II CCAM of the lung. CCAM of the lung is a rare development lesion of the lung and it has no sexual predilection. It is usually unilateral and sublobar or lobar in size, but occasionally it can be multilobar. Typical histologic feature of CCAM are adenomatoid proliferation of bronchiole-like structures and macro- or microcysts lined by columnar or cuboidal epithelium and absence of cartilage and bronchial glands. Inflammatory changes are not found in infants, but may be present in adult patients. Based on the size of the cysts, CCAM may be classified into three different types: type I characterised by multiple cysts, over than 1 cm in diameter; type II with smaller cysts, less than 1 cm in diameter; type III that shows solid lesions composed of bronchiole-like structures. Type II is commonly found in childhood, but is occasionally seen in adult patients, as that one in our report. The insult probably occurs between 4th and 7th week of fetal life. The etiologic agent is unknown. The histologic diagnosis of CCAM is difficult in adult patient, perhaps because of supervening infections that sometimes distort the underlying diagnostic pathologic appearances and make them difficult to recognise, as happened in our case. From the clinical point of view, most of the lesions cause severe respiratory failure; in adult individuals the diagnosis is difficult, since there are very few relevant symptoms and signs. The patients can present with fever, recurrent infections, breathlessness and haemoptysis. The chest X-rays abnormalities are not specific and include homogeneous or multicystic opacities. Similarly, other diagnostic methods add no further useful informations. Surgical treatment is necessary also in adult patients, because of the risk of recurrent pulmonary infections and malignancies associated with CCAM. Lobectomy is the treatment of choice, but sometimes a larger resection is required, when the lesion involves more than one lobe.     

Echogenic fetal bowel and calcified meconium in a fetus with trisomy 21

A case of acute cholecystitis in an immunosuppressed patient with hepatocellular dysfunction is reported. The diagnostic dilemmas posed by the lack of specific sonographic findings, the possibility of acute gallbladder disease without early cystic duct obstruction, and the absence of clear guidelines for the interpretation of delayed appearance of the gallbladder on hepatobiliary scintigraphy in this subgroup of patients are discussed.     

Intralobar pulmonary sequestration: a clinical and pathological spectrum

Pulmonary sequestration is a mass of abnormal pulmonary tissue that does not communicate with the tracheobronchial tree and is supplied by an anomalous systemic artery. Whereas extralobar sequestration is clearly congenital, intralobar sequestration, which frequently presents in older children with pathological findings showing acute and chronic inflammation, may have an acquired origin secondary to frequent infections. Several large autopsy series support an acquired etiology of intralobar sequestration. Four cases of intralobar sequestration are presented that demonstrate a spectrum of inflammatory change that support its congenital, rather than acquired origin. Case 1 was a newborn who presented with tachypnea and a right lower lobe density. Resection at 3 weeks of age showed no inflammation in the sequestration specimen. Case 2 presented as a newborn infant with congestive heart failure. Pulmonary sequestration was confirmed by arteriogram. Resection at 3 months of age showed chronic inflammation. Case 3 presented at 7 months of age with chronic pneumonia. The resected specimen demonstrated moderately severe acute and chronic inflammation. Case 4 presented as a 6 year old. The operative specimen showed extensive bronchiectatic changes with marked acute and chronic inflammation. These cases support the congenital origin of intralobar sequestration and suggest a temporal progression from no inflammation to severe acute and chronic inflammation.     

A case report of glomerulocystic kidney disease with hypothyroidism in a new born infant

We report a rare case of glomerulocystic kidney disease (GCKD) with congenital hypothyroidism. A gigantic abdominal mass was noted at birth. There was no family history of renal cystic disease. Ultrasonography revealed diffuse granular cysts in the markedly enlarged kidneys. Blood examination showed moderate renal failure and hypothyroidism. Bilateral nephrectomy was conducted at 47 days of age to relieve respiratory failure and severe abdominal distention caused by the growing cystic kidneys. Histological findings of the kidney showed numerous glomerular cysts without renal dysplasia. There were no other malformations. These findings were compatible with GCKD.     

Congenital absence of the vas deferens: incomplete penetrance of cystic fibrosis gene mutations

PURPOSE: We evaluated the penetrance of cystic fibrosis gene mutations for the clinical phenotype of congenital bilateral absence of the vas deferens. MATERIALS AND METHODS: We retrospectively reviewed the fertility status of 244 brothers of 105 men with congenital bilateral absence of the vas deferens. Testing for the most common cystic fibrosis transmembrane conductance regulator (CFTR) gene mutations and for haplotype analysis of the intron 8/polythymidine segment was recommended for all men with congenital bilateral absence of the vas deferens. RESULTS: Of 244 brothers of men with congenital bilateral absence of the vas deferens 131 were eligible for assessment of fertility. Of the 131 evaluable brothers only 7 (5%) were found to have congenital bilateral absence of the vas deferens. This prevalence is 5 times lower than that predicted for congenital bilateral absence of the vas deferens (25%) based on the autosomal recessive inheritance pattern seen in classical cystic fibrosis. For couples in which the man has congenital bilateral absence of the vas deferens and the female partner tests negative for standard CFTR gene mutations including 5T analysis, the maximum risk of having a child with congenital bilateral absence of the vas deferens is less than 1.0%. CONCLUSIONS: Our data are consistent with incomplete penetrance for the congenital bilateral absence of the vas deferens phenotype after inheritance of cystic fibrosis gene mutations, even after adjusting for environmental factors and wolffian anomalies. Incomplete penetrance may account for a low prevalence of congenital bilateral absence of the vas deferens in the population and may lower the risk of having a child with congenital bilateral absence of the vas deferens for couples undergoing sperm retrieval and assisted reproductive techniques.     

Sonographic features of ovarian remnants

Ovarian remnants occur after a portion of ovarian tissue is left behind unintentionally after oophorectomy. The ovarian remnant may be functional and cystic, producing pelvic pain and, in some patients, extrinsic compression of the distal ureter. Ovarian remnants frequently are associated with adhesions from previous pelvic surgery for endometriosis or pelvic inflammatory disease. Ovarian remnants also may be included within pelvic peritoneal inclusion cysts. In this retrospective study, the sonographic features of ovarian remnants in 10 patients with surgical proof or clinical follow-up data are described. Most ovarian remnants were simple cysts (seven of 10), three had multiple septations, and six had a rim of presumably ovarian tissue with arterial and venous flow. Three patients with ovarian remnant masses that were aspirated had symptomatic relief without recurrence. In one patient, guided aspiration was unsuccessful, probably owing to the presence of organized hemorrhage within the mass. Extrinsic compression of the distal ureter was observed in one patient, who was treated with gonadotropin releasing hormone agonist (Lupron). The sonographic findings of a completely cystic or multiseptated pelvic mass with a rim of vascularized solid tissue in a postoophorectomy patient, although such cases are rare, suggest the diagnosis of an ovarian remnant. If the diagnosis can be established with a high degree of certainty, sonographically guided aspiration may be attempted in an effort to provide symptomatic relief. Otherwise, sonography is useful in serial assessment of these masses in patients receiving medical treatment.     

Opioid agonist effects on mouse writhing after irreversible mu receptor blockade with clocinnamox.

The antinociceptive effects of the mu opioid agonists morphine, fentanyl, etonitazene, and the high-potency fentanyl analog NIH 10741 were assessed before and after administration of the irreversible mu opioid antagonist clocinnamox (CCAM) in a mouse acetic acid-induced writhing procedure. CCAM caused hyperalgesia and shifted the dose-response curves of all 4 tested agonists to the right in a dose-dependent manner without, however, preventing the complete suppression of writhes by agonist doses >100–20,000 times their respective ED?? values. In the case of etonitazene and NIH 10741, 10 mg/kg CCAM produced biphasic agonist dose-response curves. Further experiments with naltrexone, naltrindole, and nor-binaltorphimine suggested that in the presence of 10 mg/kg CCAM, low- to intermediate-agonist doses produced mu opioid-mediated antinociception, whereas very high agonist doses (530–2,800-fold higher than their ED?? value under control conditions) suppressed writhing by nonopioid mechanisms. (PsycINFO Database Record (c) 2010 APA, all rights reserved)     

Pulmonary sling: morphological findings. Pre- and postoperative course

Pulmonary sling (PS) is a congenital condition in which the left pulmonary artery (LPA) arises from the right pulmonary artery (RPA), forming a sling around the trachea causing tracheal compression. The incidence is not so rare as initially thought. Symptoms of severe airway obstruction often begin in the newborn or young infant. Echo-colour-Doppler may reveal the PS but emphysema can mask the typical findings. Deviation of fluid-filled lungs may be detected prenatally. Chest radiographs show unusual air distribution, deviation of heart and mediastinum and altered tracheobronchial angles. Bronchography and bronchoscopy demonstrate the high incidence of associated tracheal anomalies such as cartilagenous rings and long tracheal stenosis. Anterior oesophageal indentation is not always seen in the oesophogram. Magnetic resonance imaging (MRI) and computed tomography (CT) reveal the PS, but cautious interpretation is necessary because of different levels of the anomalous LPA. PS and associated cardiovascular malformations can be clearly detected by angiography. Associated extrathoracic anomalies are common. Early diagnosis and therapy of PS is mandatory and consists of reimplantation of the LPA into the pulmonary trunk and division of the ligamentum arteriosum. The postoperative course may be cumbersome necessitating bronchological interventions. Tracheal resection may be necessary but restenosis is frequent. A one-stage repair has been proposed in such cases and was successfully done in a few reported cases. Relief of respiratory obstruction is often complete when there are no associated tracheobronchial anomalies. Late postoperative course is favourable but respiratory obstructive attacks may occur with decreasing incidence over time and tracheal growth.     

MR cholangiography of congenital biliary malformations in infancy

We presented MR cholangiography (MRC) of congenital biliary malformations in infancy. MRC was obtained during induced sleeping. In two cases of congenital dilation of bile duct, MRC revealed cystic or spindle dilatation of intra- and extra hepatic bile ducts. In one biliary atresia, MRC revealed the serpentine gall bladder and cystic dilatation of the extrahepatic bile duct without connection to the dilated hilar bile duct. MR cholangiography, which can be obtained noninvasively, is useful for the diagnosis and the preoperative assessment of congenital biliary malformations in infancy.     

Catalytic efficiency of expressed aromatase following site-directed mutagenesis

A solid and cystic tumor (SCT) of the pancreas occurring in a 35-yr-old male is reported. Cut sections of the specimen revealed a solid, ill-defined mass measuring 2.5 x 2.3 x 2.0 cm, without cystic or necrotic changes. Histologically, the solid tumor consisted of small, round acidophilic cells invading the surrounding pancreatic parenchyma. The tumor cells were positive for alpha-1-antitrypsin and neuron-specific-enolase. Ultrastructural studies revealed clear nuclei with no zymogen, but immature secretory granules in the cytoplasm of the tumor cells, which had a junctional complex-like structure. These findings were consistent with the so-called solid and cystic tumor of the pancreas. There was neither a capsule surrounding the tumor nor a papillary structure, known to be characteristic findings of the SCT tumor. The small tumor reported in the present article might represent an early-stage SCT of the pancreas.     

Zinc enhancement of 17beta-estradiol''s anabolic effect in osteoblastic MC3T3-E1 cells

Annexin V belongs to a family of phospholipid binding proteins, the Annexins. It binds in the presence of Ca(2+)-ions with high affinity to negatively charged phospholipids like phosphatidylserine (PS). On the basis of its protein structure and biological activity Annexin V is considered as a protein exhibiting its hitherto unknown function within the intracellular environment. One argument comes from the understanding that PS is predominantly located in membrane leaflets, which face the cytosol. However, recent findings show that each cell type has the molecular machinery to expose PS at its cell surface. This machinery is activated during the execution of apoptosis. Once PS is exposed at the cell surface it exhibits procoagulant and proinflammatory activities. Annexin V will bind to the PS-exposing apoptotic cell and can inhibit thereby the procoagulant and pro-inflammatory activities of the dying cell. These findings together with the presence of Annexin V in the extracellular space depict a novel (patho)Physiological significance for Annexin V in vivo.     

Extralobar sequestration presenting as massive hemothorax

Pulmonary extralobar sequestration is a rare anomaly, usually diagnosed during the first months of life. A case of extralobar pulmonary sequestration in an adult, manifesting itself as massive hemothorax, is presented.     

Prenatal diagnosis. II. Importance of ultrasonographic markers in prenatal diagnosis of chromosome abnormalities]

The Medical Genetic Unit of the University of Zulia (MGUUZ) has developed a Prenatal Diagnosis Program (PDP) since January-1993, in which Genetic Risk Factors are determined in couples who request prenatal genetic counseling. In this program, different prenatal diagnostic procedures are performed to detect congenital defects during intrauterine life. One of these procedures is the Fetal Sonogram (FS). FS is a non invasive technique which permits the prenatal diagnosis of many genetic dysmorphic syndromes. Through the search of abnormal specific characteristics in the fetus, chromosomopathies may be suspected. These findings are named "Echosonographic Markers of Chromosomal Abnormalities" (EMCA). During three years (January-1993 to December-1996), patients attended in the PDP included 321 pregnant women in which 312 FS were performed. Abnormal outcomes were 22 (17 with isolated congenital malformations and 5 with EMCA). Only one fetus with chromosome abnormality (46,XX21q-) could not be detected by FS. The goals of this paper are: 1) to report 5 patients with sonographic markers suggestive of chromosomal abnormalities and 2) to show the FS usefulness in prenatal diagnosis of chromosompathies. We conclude that, in the search of the EMCA the FS should be offered systematically to all pregnant women without recognizable genetic risk. They are the main group with optimal reproductive age and in consequence, with the possibility of having a relatively major number of conception outcomes with congenital defects, with or without chromosomic etiology. The majority of those defects can be detected by FS and could allow us to select the patients in which the use of an invasive prenatal diagnostic procedure could be justified.