Clinical and molecular features of congenital disorder of glycosylation in patients with type 1 sialotransferrin pattern and diverse ethnic origins

OBJECTIVE: To increase awareness of congenital disorders of glycosylation (CDG), we report the features of patients with a variety of clinical presentations ranging from mild hypotonia and strabismus to severe neurologic impairment. STUDY DESIGN: Nine North American patients with CDG type I and different ethnic origins were studied. RESULTS: All patients had transferrin isoelectric focusing studies with a type 1 sialotransferrin pattern. Molecular analysis showed the previously described R141H, V231M, and T237M PMM2 mutations in four patients as well as 3 rare mutations (DeltaC389, L104V, and IVS1 -1 G-->A) in the PMM2 gene in two Asian patients. CONCLUSIONS: The clinical features of these patients with diverse ethnic backgrounds confirm the variable course of CDG type I. Screening for CDG should be considered in children with relatively mild neurologic impairment, especially if they have suggestive findings such as cerebellar hypoplasia and abnormal fat distribution.     

Eight-year study of allergic bronchopulmonary aspergillosis in an Indian teaching hospital

A total of 651 patients with clinically suspected allergic bronchopulmonary aspergillosis (ABPA) were evaluated during the 8-year period from January 1991 to December 1998. Overall, 338 cases (51.9%) were positive either by sputum microscopy/culture (66 of 203 patients), by skin reactivity (150 of 309 cases), or by precipitating antibodies (122 of 338 patients) against Aspergillus species. However, in 89 patients, diagnosis of ABPA was confirmed on the basis of Rosenberg's criteria. Clinical profile and laboratory findings of those patients were analysed. The disease was found to be more common among males. Poor control of asthma, constitutional symptoms, mucopurulent expectoration, increased dyspnoea and wheezing and rhonchi were the main presenting features. Skin reactivity against aspergillin was seen in 73 (82%), precipitating antibodies against Aspergillus species were positive in 64 (72%) and sputum microscopy/culture was positive in 56 (63%) of those 89 patients. Central bronchiectasis and fleeting shadows were the most common radiological findings. This study highlights the importance of ABPA in north India and draws attention to the need for further analysis of criteria to use in the diagnosis of patients with ABPA.     

Stapes prosthesis: evaluation with CT

We used computed tomography (CT) to evaluate 44 patients who had undergone stapedectomy with insertion of a prosthesis. Several patients had poor surgical results, including recurrent conductive hearing loss, vertigo, and sensorineural hearing loss. Conductive hearing loss occurring immediately after the procedure was most often caused by anatomic limitations or surgical technique. Causes of delayed or recurrent conductive hearing loss included reparative granuloma formation, incus necrosis (at the attachment of the wire), prosthesis subluxation (most often posterior), and regrowth of otosclerosis, which occasionally is further complicated by incus dislocation. We found that CT is often diagnostic when these complications occur. Immediate sensorineural hearing loss or vertigo can be self-limited if caused by serous labyrinthitis. When delayed, these symptoms may be due to perilymph fistula. If caused by the latter, CT may not yield abnormal findings unless subluxation of the prosthesis into the vestibule has occurred.     

Lung cancer in India--a perspective.

The epidemiology, aetiopathogenesis, diagnostic methods and management of lung cancer in India have been reviewed based on the published data from this country. Over the years, the incidence has been increasing and the disease is being recognized more often. Smoking is the most important aetiological factor. Beedi smoking which is a common practice in this country is equally, if not more, harmful than cigarette smoking in causing lung cancer. Tremendous improvement has been made in various diagnostic techniques. Cytological methods, fiberoptic bronchoscopy and percutaneous lung aspiration are being used more frequently. At the treatment front, although radiotherapy and chemotherapy are being used, the results are not very encouraging. Except in few cases, surgery is usually not feasible because of advanced disease. Prevention of lung cancer by anti-smoking measures should be the main goal of solving the problem in this country.     

Recent Trends in Dealing with Inguinal Hernial Sac

High ligation of the hernial sac is a hallowed and time-honoured concept in inguinal hernia repair and it is considered essential for preventing recurrence. However, this concept has been contested in recent reports. We conducted a prospective study of 186 cases of inguinal hernia repair. In 92 cases the sac was ligated at the neck and excised, in 94 cases the sac was not ligated at all but either simply inverted or excised without ligation. The type of repair was Bassini''s repair, Shouldice repair or Lichtenstein''s repair. Degree of post-operative pain was significantly less in those cases where sac was not ligated. There were no cases of recurrence in either group at 3 years follow up. Ligation of sac in inguinal hernia surgery is not only unnecessary and time consuming but also leads to increased post-operation pain. Recurrence is unaffected by not ligating the sac.Key Words: Hernial sac, Recurrence