Identification of the cystic fibrosis gene: chromosome walking and jumping.

An understanding of the basic defect in the inherited disorder cystic fibrosis requires cloning of the cystic fibrosis gene and definition of its protein product. In the absence of direct functional information, chromosomal map position is a guide for locating the gene. Chromosome walking and jumping and complementary DNA hybridization were used to isolate DNA sequences, encompassing more than 500,000 base pairs, from the cystic fibrosis region on the long arm of human chromosome 7. Several transcribed sequences and conserved segments were identified in this cloned region. One of these corresponds to the cystic fibrosis gene and spans approximately 250,000 base pairs of genomic DNA.

Changes in the plasma diazepam concentration and its anticonvulsant effect after the discharge of a diazepam suppository from the rectum in rats.

One of the clinical problems regarding the use of suppositories for patients is the discharge of the medication itself after the insertion of the suppository. The effects of the discharge of diazepam (DZP) suppositories from the rectum on the plasma DZP concentration and its anticonvulsant action were investigated in rats. The plasma DZP concentration reached a maximum at approx. 30 min after the rectal administration of a 5 mg/kg DZP suppository. The discharge of the DZP suppository from the rectum at 5 or 10 min after rectal administration significantly reduced the plasma DZP concentration and the anticonvulsant action of the DZP suppository against pentylenetetrazol-induced seizures. However, when the suppository was discharged from the rectum after 20 min, the plasma DZP concentration and the anticonvulsant action were only slightly but not significantly decreased. These results suggest that the discharge of the DZP suppository in the early phase, within 20 min, decreases the plasma concentration and the anticonvulsant action of the DZP suppository in rats. Therefore, when the suppository is discharged from the rectum immediately, sufficient observation and proper treatment are necessary.

Successful conservative treatment outcomes and clinical characteristics of congenital hypoplasia of the extensor tendon central slip.

Congenital hypoplasia of the extensor tendon central slip is a rare entity. This article describes the clinical characteristics in a series of 22 fingers in 16 patients (mean age: 10 months), and the outcomes of conservative treatment. Nine of 22 fingers were classified as slender or hypoplastic. Treatment with bracing was successful in 21 digits, resulting in full active extension of the proximal interphalangeal joint at a mean of 8.5 months after treatment. Bracing was unsuccessful in one digit, in which operative treatment resulted in a successful outcome. Some residual deformity was observed in ten fingers after a mean follow-up period of 2 years and 1 month. Congenital hypoplasia of the central slip can be treated successfully by the conservative hand bracing when worn with full compliance. Treatment time is extended by the infrequent application of the hand brace or in the case of hypoplastic slender fingers. LEVEL OF EVIDENCE: IV.

Establishment of two human small cell lung cancer cell lines: the evidence of accelerated production of parathyroid hormone-related protein with tumor progression.

Two small cell lung cancer (SCLC) cell lines have been established from malignant effusions obtained from an SCLC patient with hypercalcemia during a 3-month follow-up period. The two cell lines established were shown to transcribe the parathyroid hormone-related protein (PTHrP) gene and to constantly secrete fairly large amounts of PTHrP into the culture medium. The efficiency of PTHrP gene transcription and secretion was greater in the cell line established in the late stage (KOT-2) as compared with that obtained in the early stage (KOT-1). Immunohistochemical studies showed that these cells also coexpress neuroendocrine (NE) products such as chromogranin A and neuron-specific enolase (NSE).

Bronchioloalveolar carcinoma accompanied by severe bronchorrhea.

We report an unusual case of bronchioloalveolar carcinoma characterized by production of a large quantity of sputum accompanied by drastic electrolyte and fluid loss. The sputum contained a high level of gastrointestinal cancer-associated antigen (CA19-9) and carcinoembryonic antigen (CEA). An immunohistochemical study of tumor cells showed the specific distribution of gastrointestinal cancer-associated antigen and carcinoembryonic stains, which were localized in the apical region of tumor cells.

Fibrinolytic activity in periodontal disease. The relationship between fibrinolytic activity and severity of periodontal disease.

IN RECENT YEARS, evidence has evolved that suggests a relationship between fibrinolytic phenomenon and various inflammatory diseases. Plasmin activity and the response of the fibrinogen and fibrin degradation products latex test (FDPL test) in gingival fluid, along with plasminogen activator activity in gingival tissue were assessed. Samples were taken from periodontally involved persons and compared with healthy individuals. The following conclusions could be drawn: (1) The fluid from inflamed gingival crevices possessed more plasmin activity than that from clinically healthy crevices. The reaction of the FDPL test was stronger in the former. (2) Plasminogen activator activity in gingival tissue showed no significant difference between periodontally involved and healthy subjects.

A case of hypothalamic sarcoidosis with hypopituitarism and prolonged remission of hypogonadism.

A 21-year-old man developed hypopituitarism, with symptomatic hypogonadism and diabetes insipidus (DI), as well as uveitis, retinal vasculitis, and papilledema in association with systemic sarcoidosis. A suprasellar tumor was demonstrated by computed tomography (CT). Although ophthalmic symptoms disappeared with prednisone and the DI was controlled with Desmopressin (DDAVP), the hypogonadism did not improve with human menopausal gonadotropin (HMG) and human chorionic gonadotropin (HCG). In long-term follow-up, the hypogonadism unexpectedly resolved.

Anterior wedge-shaped bone graft for old scaphoid fractures or non-unions. An analysis of relevant carpal alignment.

For appraisal of anterior wedge-shaped grafts for the humpback deformity of the scaphoid, a retrospective study of 27 cases with old scaphoid fractures or non-unions was carried out. 11 cases were treated with Herbert screw fixation and anterior wedge-shaped graft and the other cases with other methods. For the assessment of carpal alignment, radio-lunate and scapho-lunate angles were measured with peri-operative radiographs. For the clinical assessment, the scoring system of Cooney was applied. In 25 cases, primary bone union was obtained with one attempt and in two cases, with the second operation. Union was achieved in a mean of 3.4 months. The post-operative wrist score ranged from 65 to 100 with an average 81.2 points. There was a statistically significant relationship between the wrist score and the post-operative scapho-lunate angulation of the affected wrist. The humpback deformity of scaphoid non-union should be treated precisely with carpal realignment surgery or anterior wedge-shaped bone graft.

[Comparison of epidural anesthesia and general anesthesia for patients with bronchial asthma].

We prospectively investigated the incidence of asthmatic attacks in 94 patients (1.5%) who were diagnosed as definite asthma. We separated the patients into three groups: epidural anesthesia (n = 10) including combined spinal/epidural anesthesia (n = 7), combined epidural and general anesthesia (n = 23), and general anesthesia (n = 54). General anesthesia was induced with propofol or midazolam and maintained with N2O and O2 with sevoflurane in adults. Patients who underwent epidural anesthesia and combined spinal and epidural anesthesia showed no asthmatic attacks. The incidence of bronchospasm with combined epidural and general anesthesia was 2/23. The incidence of bronchospasm with general anesthesia was 4/54. Bronchoconstriction occurred after tracheal intubation in 5 patients except in one patient, in whom it occurred after induction of anesthesia with midazolam. All episodes of bronchospasm in the operative period were treated successfully. The frequency of bronchospasm did not depend on the severity of asthmatic symptoms or the chronic use of bronchodilators before operation. These findings suggest that tracheal intubation, not the choice of anesthetic, plays an important role in the pathogenesis of bronchospasm.

[Cystic fibrosis lung disease and its management].

The function of the cystic fibrosis (CF) gene product, cystic fibrosis transmembrane conductance regulator (CFTR) is critical to normal lung defense. CFTR not only acts as a cAMP-dependent Cl-channel, but regulates other ion channels and several cellular functions. This article describes the current understanding of the clinical pathophysiology and the management of cystic fibrosis lung disease, particularly the CFTR-related bacterial colonization of the airways. Since chronic lung infection remains the major cause of early death, it is important to interrupt the cycle of infection and inflammation that leads to bronchiectasis and respiratory failure. Only a few cases have been reported in Japanese with no mutations including delta F508 identified. Those cases seem to be caused by unknown factors yet to be found.

Clinical outcome of carpal tunnel release with and without opposition transfer.

We studied the clinical outcome in 24 patients (25 hands) with carpal tunnel syndrome characterized by severe thenar muscle atrophy, who were treated by open carpal tunnel release alone (10 hands) or with simultaneous opposition transfer (15 hands). We also compared the surgical results in patients younger or older than 65 years. Pain and numbness improved after open carpal tunnel release but more so in younger patients. Activities of daily living also improved with and without opposition transfer; however, certain activities such as fastening hooks or buttons, using chopsticks and turning a key in a lock improved more with opposition transfer. Grip strength did not improve, with or without opposition transfer, regardless of the patients' ages. Pinch strength improved more with opposition transfer.