Tonsillectomy and adenoidectomy for obstructive sleep apnea in sickle cell anemia.

Objective. To evaluate the effects of Tonsillectomy and Adenoidectomy (T&A) on Obstructive Sleep Apnea (OSA) secondary to Upper Airway Obstruction (UAO) in children with Sickle Cell Disease (SCD). Methods. Twenty eight children with SCD and history of snoring, with or without adeno tonsillar hypertrophy, were evaluated for UAO and OSA. Results. Eight children were confirmed to have OSA by multichannel polysomnography and underwent T&A. Follow up examination showed symptomatic clinical and objective improvement in sleep study parameters in OSA. Conclusions. T&A appears to be a safe, effective option to treat selected patients with OSA due to UAO in SCD children.

Chromosome investigations & clinical outcome in patients with myelodysplastic syndromes.

A total of 25 patients with primary myelodysplastic syndrome (p-MDS) were cytogenetically investigated. The incidence of abnormal karyotypes was higher, detected in 88 per cent of the patients and the most frequent abnormality was a terminal deletion of chromosome 7 (45% of the patients with abnormal karyotypes) followed by an i (17q) (18%), +21(14%), -5/5q (9%), del (11) (q22) (9%). Cytogenetic analysis after therapy/after leukaemic transformation indicated either stable clones (2 patients) or emergence of new clones such as inv(5) (q32q36), del (17) (p13), +20, +22 (1 patient each). It is to be noted that of the 8 patients with leukaemic transformation, 5 had del (7q). The leukaemic transformation (32% of the patients) was not related to the percentage of abnormal karyotypes not to the percentage of blasts at the time of the MDS presentation. Chromosome instability was shown by 10 (45%) patients. Our data indicate that higher frequency of chromosomal aberrations with involvement of chromosome 7 may be the result of underlying disease.

Aniridia--Wilms' tumour association--a case with 11p 13-14.1 deletion and ventricular septal defect.

A two year old female child with bilateral wilms tumor (WT) along with multiple congenital anomalies like bilateral aniridia with congenital cataracts and nystagmus, microcephaly, mental retardation and ventricular septal defect has been described. The karyotype analysis revealed 46 xx, del 11p 13-14.1. Association of ventricular septal defect with the classical features of 'Aniridia-Wilms' tumor association' is an unusual feature in this case.

Childhood myelodysplastic syndromes: clinical features, cytogenetics and prognosis.

Sixteen children with myelodysplastic syndrome as defined by the French-American-British co-operative group are presented. The mean age was 10.5 (2.5 to 16) years, with a male predominance. All patients belonged to the more aggressive subtypes of myelodysplastic syndromes. Seven patients presented with refractory anaemia with excess blasts, six had refractory anemia with excess blasts in transformation, and three had chronic myelomonocytic leukemia. Cytogenetic analysis done in 7 of the 16 patients, revealed karyotype abnormalities involving chromosomes 7, 8 and 17. One patient with Down's syndrome had karyotype of 47, XY, +21 (major clone) and 46, XY (minor clone). Five of these patients evolved to acute leukemia. The mean duration of survival was 5.5 months. Aggressive chemotherapy as a primary line of treatment induced remission in five out of six patients. Predominance of aggressive types of myelodysplastic syndromes in children and their good but short-lived response to aggressive chemotherapy suggests the need for early bone marrow transplantation following chemotherapy.

Fanconi's anemia: a clinico-hematological and cytogenetic study.

Eleven patients with typical features of Fanconi's anemia with cytogenetic studies were evaluated. Cytogenetic abnormalities was seen in all but one patient. Two patients had acute non-lymphoblastic leukemia (ANLL) and nine had Fanconi's anemia (FA). All patients with FA responded to oxymetholone and are well with a median follow up of 38.6 months. Both patients with ANLL died. This study stresses the need of an accurate cytogenetic analysis in FA patients along with a clinicohematological correlation.

Chronic myelomonocytic leukaemia (an analysis of fourteen consecutive cases).

Fourteen consecutive cases of chronic myelomonocytic leukaemia aged 6 to 73 (mean 40.5) years were reviewed to define the natural history of the disease and the risk of acute transformation. The common presenting features included anaemia, fever, purpura, and bleeding tendencies. Abnormal karyotypes were seen in 4 of 6 patients subjected to cytogenetic analysis. Low dose cytosine arabinoside achieved complete remission in two and partial remission in one, of the four patients treated with this modality. The mean survival was 5.6 (range 2-12) months and two patients) evolved to acute myeloid leukaemia. The long term survival with the present form of therapy in chronic myelomonocytic leukaemia is poor.