Vocal cord dysfunction presenting as refractory asthma

Vocal cord dysfunction is a rare variety of upper airway obstruction characterized by typical laryngoscopic features and may mimic an acute asthma attack. The case presented in this report pertains to a 15-year-old girl who had repeated acute episodes of dyspnoea and wheezing and remained non-responsive to corticosteroids and inhaled bronchodilators requiring endotracheal intubations for adequate control. Laryngoscopic findings were consistent with vocal cord dysfunction. She was treated with a tracheostomy and psychological support.     

Mutational analysis of the RB1 gene in Indian patients with retinoblastoma

Twenty-one probands, twelve with bilateral and nine with unilateral retinoblastoma, were screened for mutations in the RB1 gene using genomic DNA from peripheral blood leukocytes as well as tumors. Amplification of individual exons and flanking regions of the RB1 gene were carried out, followed by direct sequencing of the amplified products. Sequences of affected individuals were compared with those of controls. Mutations were identified in seven patients, five with bilateral and two with unilateral retinoblastoma. Six out of seven mutations involved the formation of premature termination codons by means of single base substitutions (2), frameshifts due to splice-site mutations (2), or deletion and duplication (2). One missense mutation was identified. Of the remaining fourteen patients, seven with bilateral disease had no mutations in peripheral blood (7 cases) or tumors (3/7 cases). Analysis of the peripheral blood of seven patients with unilateral disease also showed no mutations. Mutations were detected in about one-third of the cases, suggesting that hemizygous deletions at the RB1 locus or mutations outside the coding regions of RB1 may be responsible for the disease in the remaining patients.     

Monoclonal antibodies to gonadotropin-releasing hormone (GnRH) inhibit binding of the hormone to its receptor

Monoclonal antibodies (MAbs) specific to gonadotropin-releasing hormone (GnRH) were obtained using different strategies of conjugation of the peptide to carrier protein and immunization. Of several antibodies obtained, two, namely F1D3C5 and E2D2 bound GnRH in solution phase. Though the epitopes corresponding to the two overlapped, there was a one amino acid shift in the core epitope. These two antibodies were characterized with respect to inhibition of GnRH induced responses in rat pituitary cultures and alpha-T3.1 mouse gonadotrope cell line.     

Foetal heart rate patterns in early labour in low and high risk pregnancies and its correlation with perinatal outcome

The present prospective study included 173 randomly selected primigravidae at admission in early labour. Of these, 88 cases were of low risk and 85 cases were of high risk, on the basis of antenatal risk factors. All the cases were subjected to a twenty minutes recording of the foetal heart rate patterns and uterine contractions in early labour. It was interesting to note that, 13% of so called low risk pregnancies showed abnormal foetal heart pattern and thus became high risk in labour. No statistically significant difference was seen in the baseline heart rate and variability patterns in low and high risk pregnancies. However, all types of decelerations were more frequent in the high risk pregnancies. It was observed that as compared to baseline heart rate and variability, decelerations were better predictors of a poor perinatal outcome especially late decelerations and variable decelerations with ominous features, the mean Apgar scores at one minute of the two being 5.6 and 6.8 respectively.     

Essential thrombocythaemia

A case of essential thrombocythaemia which responded to aspirin and hydroxyurea is presented.     

Congenital rickets caused by maternal vitamin D deficiency

The cases of four newborn infants with congenital rickets are reported. All infants were native Canadian: three were Cree and one was Inuit. One had a narrow chest and pulmonary hypoplasia, two had clinical and radiological signs of rickets with craniotabes, thickened wrists, and prominent costochondral junctions, and one had perinatal asphyxia and hydrops. All had hypocalcemia, hypophosphatemia and secondary hyperparathyroidism. Serum 25-hydroxyvitamin D levels were low in three of the infants. The four mothers had evidence of vitamin D deficiency. All infants recovered following treatment with 5000 IU oral vitamin D daily.     

Allergic fungal sinusitis: expanding the clinicopathologic spectrum.

OBJECTIVE: We sought to determine whether histologic tissue invasion occurs in allergic fungal sinusitis (AFS) and, if so, to identify clinical indicators for the same.Study design and setting We conducted a retrospective case record review of all 28 AFS cases identified by histology over a 32-month period at a tertiary care referral center. All histologic specimens were reevaluated for features of invasive pathology, and case records were correlated for clinical, radiologic, or laboratory parameters associated with such invasion. RESULTS: In addition to the universal finding of the characteristic allergic mucin with fungal elements on histopathologic examination of the sinus luminal contents, 6 cases (21%) had additional evidence of mucosal invasion as indicated by granulomatous inflammation and branching septate fungal hyphae in the submucosal tissues. Such coexistent invasion was associated with advanced disease as indicated by a higher incidence of orbital involvement on clinical evaluation (P = 0.024), and extrasinus spread (intraorbital or intracranial spread) on the computed tomography evaluation (P = 0.003). The single death that occurred on follow-up was in a patient with coexistent invasion. CONCLUSION: Advanced AFS may be complicated by histologic evidence of tissue invasion. SIGNIFICANCE: The noninvasive and invasive forms of fungal sinusitis are not necessarily discrete and may coexist in the same patient. Clinical features of orbital involvement or computed tomography manifestations of extrasinus spread should alert the clinician to the possibility of invasion.