Transbronchial lung biopsy for diagnosis of infiltrative pneumonic and round lesions

The cytological and histological studies of biopsy specimens obtained from 51 patients with infiltrative pneumonic formations in the lung (Group 1) and in 30 with its round formations (Group 2) at transbronchial intrapulmonary biopsy could verify the etiology of the disease in 86.2 and 20.0% in Groups 1 and 2, respectively. Different diseases may run under the mask of tuberculosis in 36.6% of these patients.     

Hemangioma-like lesions: diagnosis and management

The distinctive color that serves as the basis for the appearance of blue lesions arises from the accumulation of pigmented material, blood, or clear fluid in abnormal amounts within the oral tissues. Clinical appearance of these lesions varies and, despite their morphological similarity, their pathogenesis, etiology, and clinical behavior is different, as are their treatment and prognosis. Because of the clinical similarity between benign and malignant blue lesions (as illustrated by the patients described in this report), the need for precise histologic diagnosis prior to definitive treatment is emphasized.     

Diagnostic imaging of cystic lesions in the child's orbit

The child's orbit may be involved with a variety of cysts and cyst-like lesions. Such lesions may represent development anomalies of the globe and orbit, acquired lesions of the orbit, or cystic expansions from contiguous structures. CT and MR imaging are important diagnostic tools that aid the ophthalmologist in establishing the correct diagnosis and defining the extent of these cystic lesions.     

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.     

The rotator cuff-deficient arthritic shoulder: diagnosis and surgical management

The symptomatic rotator cuff-deficient, arthritic glenohumeral joint poses a complex problem for the orthopaedic surgeon. Surgical management can be facilitated by classifying the disorder in one of three diagnostic categories: (1) rotator cuff-tear arthropathy, (2) rheumatoid arthritic shoulder with cuff deficiency, or (3) degenerative arthritic (osteoarthritic) shoulder with cuff deficiency. If it is not possible to repair the cuff defect, surgical management may include prosthetic arthroplasty, with the recognition that only limited goals are attainable, particularly with respect to strength and active motion. Glenohumeral arthrodesis is a salvage procedure when other surgical measures have failed. Arthrodesis is also indicated in patients with deltoid muscle deficiency. Humeral hemiarthroplasty avoids the complications of glenoid loosening and is an attractive alternative to arthrodesis, resection arthroplasty, and total shoulder arthroplasty. The functionally intact coracoacromial arch should be preserved to reduce the risk of anterosuperior subluxation. Care should be taken not to "overstuff" the gleno-humeral joint with a prosthetic component. In cases of significant internal rotation contracture, subscapularis lengthening is necessary to restore anterior and posterior rotator cuff balance. If the less stringent criteria of Neer's "limited goals" rehabilitation are followed, approximately 80% to 90% of patients treated with humeral hemiarthroplasty can have satisfactory results.     

Olfactory neuroblastoma and other round cell lesions of the sinonasal region

Sixty-nine round cell lesions of the sinonasal region (22 olfactory neuroblastomas [ONBs], 17 malignant lymphomas, nine Ewing's sarcomas [ES], nine rhabdomyosarcomas, three sinonasal undifferentiated carcinomas, five malignant melanomas, and four pituitary adenomas) were studied in an attempt to define the differential diagnostic capabilities of antibody to MIC2 and bcl-2 in paraffin-embedded tissue in the distinction of these lesions. In addition, antibody to p53 was applied in each case to define the incidence of p53 positivity among these various tumor types. Each of the ES cases was MIC2 positive; each of the other cases was MIC2 negative. Positivity for bcl-2 was confined to two cases, one of them a malignant lymphoma (85% of cells positive) and one an ONB (5% of cells positive). Small numbers of scattered p53-positive cells appeared in the majority of cases studied, without regard for the specific tumor type; only a single case, a malignant lymphoma, showed a majority (approximately 90%) of p53-positive cells. These results indicate that the MIC2 antibody is a useful method by which to distinguish ES from a variety of other round cell lesions that may be encountered in the sinonasal region. The practical applications of antibody to bcl-2 and p53 seem to be much more limited; by contrast, neither bcl-2 positive cells nor abundant p53 cells identified by immunohistochemical analysis seemed to be frequent findings in any of the tumor types studied. Although ONBs have been included with the peripheral primitive neuroectodermal tumors for classification purposes, these tumors diverge from the ES/primitive neuroectodermal tumor family in that they do not seem to share either the MIC2 positivity or the t(11;22) chromosomal translocation that typify the ES/primitive neuroectodermal tumor family of lesions. Although bcl-2 positivity has been associated with a light microscopic finding of an unfavorable histologic pattern in retroperitoneal neuroblastomas, it does not seem that bcl-2 positivity in ONB will select for a clinically distinctive subset of patients.     

Brain herniation into the middle ear and mastoid: concepts in diagnosis and surgical management

OBJECTIVE: To review the occurrence characteristics of and clinical repair experience with brain herniation in to the middle ear and mastoid from 1970-1995. STUDY DESIGN: Retrospective chart/case review. SETTING: Private Otology/Neurotology referral practice. PATIENTS: Thirty-five patients with temporal bone brain herniation diagnosed and treated from 1970-1995. INTERVENTION: Diagnosis confirmed by CT and/or MRI. Treatment was surgical. MAIN OUTCOME MEASURES: Success of surgical repair of the problem in a large experience with follow-up of up to 180 months (mean, 48.7 months). RESULTS: Diagnosis is most effectively made by both (computed tomography (CT) and magnetic resonance imaging (MRI). In this series diagnosis was accurate in 89% with MRI. Primary repair was successful in all but three patients, two of whom required a second repair. One was unreconstructable. CONCLUSIONS: Temporal bone encephaloceles occur after ear surgery and in chronic otitis media. Prompt and effective surgical repair is successful and integral to complication avoidance.     

Small polypoid lesions of the gallbladder: differential diagnosis and surgical indications by helical computed tomography

We report the case of a 16-year-old girl who experienced sudden cardiac arrest from ventricular fibrillation, complicating an arrhythmogenic right ventricular dysplasia, a rare heart muscle disorder, occurring typically in young adults, characterized by a fibrofatty replacement of the right ventricular myocardium. Symptomatic ventricular arrhythmias are frequent, and sudden death has been reported. In our case, diagnosis of arrhythmogenic dysplasia was based on the association of one major criterion and two minor criteria as suggested by the relevant task force. In contrast with most other reports, the chest ECG did not display the typical features. An automatic transvenous pectoral cardioverter-defibrillator was implanted. The authors emphasise that juvenile forms are more exposed to ventricular fibrillation and sudden cardiac death, and consequently require the early detection of the disease. Family cases have been described and the occurrence in one individual must lead to investigations in the relatives.     

Early diagnosis and surgical treatment of children with congenital vascular rings and accompanying heart lesions

Methods of early diagnosis, operative treatment and postoperative care are described in children with congenital vascular rings. The ring types were grouped according to Cooley's classification. Among 42 recognized vascular rings 34 children required surgical treatment because of severe or noticeable compressive symptoms of esophagus and trachea. In the postoperative period early respiratory care is especially important.     

Upper extremity nerve lesions (diagnosis, indications, surgical techniques)

OBJECTIVE: Revision and questioning of orthodox principles regarding the conduction of nerve impulse. DESIGN: Retrospective study with clinical analysis of results. SITE: Hospital das Clinicas (HCFMSP), public university institution with research programs and tertiary attention to health. GROUP MEMBERS: Author and a team of residents and trainees. OPERATION: Direct suture of nervous stumps utilizing auxiliary technical procedures:- joint-flexion, nerve transposition, tendon transplants, bone shortening. MEASUREMENT: Clinical evaluation and objective tests for tactile and stereognostic function recovery (Weber Test). RESULTS: Variable, depending on preoperative conditions:- type of lesion, time elapsed since injury. CONCLUSIONS: Neurorrhaphy should be the procedure of choice even for long term lesions, although the expected results may be less favourable. Periodical evaluation from 24 hs. postoperative, checking for early undefined signals of nervous function recovery. Association of specific drugs for chemical biophysics of the nerve.     

Space-occupying lesions in the liver--rational step-wise diagnosis

For high diagnostic quality, it is crucial that the examiner has an exact knowledge of the liver tumor pathology in order to search for characteristic criteria. On the other hand knowledge of the overall spectrum of all diagnostic possibilities would also be necessary, for isolated cases, i.e. to be able to select in an individual clinical situation the critical investigation or the efficient sequence of investigations, in order to produce a swift and reliable diagnosis. With it, however, comes the aggravation of perpetual technical improvements in the tomographic imaging technique, and a wide variety of contrast mediums are constantly being developed and introduced, causing continuous problems in taking the right decision.     

Tumors of the orbit. Pitfalls of the surgical approach in 37 children with orbital tumor

The authors review their experience with 37 children with orbital tumors, summarizing their surgical techniques, the indications applied, and the pitfalls of each surgical approach. Tumors located in the retro-ocular or intraorbital space were surgically excised through a transcranial approach (28 cases), while for tumors in other sites lateral orbitotomy (5 cases), medial orbitotomy (1 case) and biopsy (3 cases) were performed. A transcranial approach was used for tumors with intracranial extension and for those located in the orbital apex and deep medial orbital compartment. Lateral orbitotomy was used for tumors located in the superior, temporal or inferior compartment of the orbit and those in the lateral apex. A medial orbitotomy was used for tumors located medial to the optic nerve. Outcomes of the surgical intervention varied, depending on the pathology, location and extent of the individual tumors. To obtain optimal exposure and minimize functional deficits, the pitfalls of surgical approaches to orbital tumors are discussed.     

Grey-scale ultrasound in the diagnosis of abdominal mass lesions

With the introduction of grey-scale imaging, the diagnostic capability of ultrasound has been greatly increased. Previously, ultrasound images were limited to a bistable presentation that did not distinguish between high- and low-level echoes. As a result the images could be interpreted by only a few experienced ultrasonographers. Grey-scale imaging with the use of a television scan converter allows both the strong and the weaker echoes to be displayed, so that both the outline and the internal texture of normal abdominal organs and lesions can be visualized on a single scan. Abnormalities are now more readily identified and their relation to normal organs is more easily appreciated so that the scans can be interpreted not only by the ultrasonographer but also by the clinician. Several cases are presented in which grey-scale ultrasound was used.     

Role of electron microscopy and other special techniques in the diagnosis of childhood round cell tumors

A series of case presentations show unique challenges associated with childhood round cell tumors and the role of ancillary techniques in diagnosis. Electron microscopy is shown to be the most powerful individual technique. Immunohistochemistry is less effective but also essential. Other ancillary techniques may provide needed additional diagnostic information. Because this is an area where it is of great importance to secure the most rapid, accurate, and specific diagnosis possible, an integrated multimodal approach is recommended--incorporating light microscopic, electron microscopic, and immunohistochemical studies as a matter of routine, and providing for cytogenetic and/or molecular diagnostic studies as indicated.     

Posterior shoulder joint instability. Classification, pathomechanism,diagnosis, conservative and surgical management

The posterior instability of the shoulder is a more difficult diagnostic and therapeutic challenge than the anterior instability. There are many etiologies and causes of posterior instability. Most studies in the literature are retrospective and yield a great variation in therapeutic recommendations. Generally it has to be separated in traumatic and atraumatic instabilities. Most of the traumatic dislocations are impaction fractures of the humeral head against the dorsal glenoid. Therapy is depending on the size of the humeral defect, the duration of dislocation and the functional demand of the patient. Therapeutic possibilities are closed reduction and fixation with a cast, open reduction and the transfer of the lower tubercule (McLaughlin's procedure), lifting of the defect and supporting with cancellous bone, subcapital rotational osteotomy or arthroplasty. The therapy of choice for atraumatic instability is a individualized rehabilitation program with strengthening and balancing of rotator cuff muscles and scapular stabilizers. Psychologic abnormalities and emotional problems have to be recognized prior to any operative procedure. These patients are no operative candidates. Operative treatment of choice is the posterior capsular shift addressing the causative redundancy or laxity of the postero-inferior capsule. Posterior bony procedures as glenoid osteotomy or bone block transfers are indicated, if the pathologic geometry of the glenoid is primarily responsible for posterior instability. It is strongly recommended to combine them with a capsular shift to address the secondary capsular redundancy.     

Pitfalls in the diagnosis and management of Lyme disease

Absence of plectin, a large cytoskeleton-associated protein expressed in the skin and muscle, has been shown to underlie epidermolysis bullosa with muscular dystrophy (EB-MD), an autosomal recessive disorder (OMIM No. 226670). In the present study, we report the case of a patient who presented with neonatal blistering and late-onset muscular dystrophy with nail and tooth abnormalities, as well as severe mucocutaneous involvement including laryngeal webs and urethral strictures, features not previously reported in this syndrome. Mutation detection, based on the use of heteroduplex analysis, revealed that the proband was a compound heterozygote for two plectin mutations, 4416delC/4359ins13, both resulting in premature termination codons in the plectin rod domain. Because these mutations, and the majority of those previously reported, reside within exon 32 of the plectin gene (PLEC1), we applied the protein truncation test (PTT) to screen for mutations in the two large 3' exons (nos. 32 and 33) of PLEC1, which together comprise approximately 75% of the coding region of the gene. PTT readily detected truncated polypeptides in the proband profiled in this study, as well as in a patient in whom we have previously identified premature termination codon mutations in exon 32. Thus, PTT provides a rapid and reliable strategy to identify premature termination codon mutations from genomic DNA within PLEC1.