Pulmonary function tests in children with beta-thalassemia major.

Lung function abnormality is a known complication of thalassemia, but the results of studies in pulmonary function have been inconsistent. This study was conducted to describe the type of lung impairment in thalassemic children. Pulmonary function tests were conducted in 40 children with beta-thalassemia major, 23 males and 17 females. Tests included spirometry, total lung capacity (TLC), single breath diffusing capacity of the lung for carbon monoxide (DL(CO)) and arterial blood gases. Serum ferritin level was measured in all children to study its relationship to lung function impairment. A predominantly restrictive pattern was seen in 14 patients (35%). These patients had a significant reduction in RV, FVC, TLC and PEF with an FEV1/FVC ratio of more than 75%. Obstructive airway disease was found in six patients (15%), with an FEV1/FVC ratio less than 75%, increased RV and reduced FEF(25%-75%). Impairment of diffusion was found in 10 patients (25%), with DL(CO) reduced to less than 80% of the predicted value. Arterial blood gases results showed that no patient was hypoxic. No correlation was found between the severity of restrictive or obstructive disease and the serum ferritin level. There was a significant linear correlation between age and serum ferritin level (P < 0.019). Patients with thalassemia have a predominantly restrictive lung dysfunction pattern. This may be due to pulmonary parenchymal pathology, although the reason for the obstructive pattern seen in a small proportion of patients remains obscure.

Acute splenic sequestration in female children with sickle cell disease in the North of Jordan.

The objective of this study was to evaluate the rate of acute splenic sequestration (ASSC) in patients with sickle beta-thalassaemia and sickle cell anaemia, the risk of recurrence in those who survive the first episode, and the relationship between ASSC episodes and subsequent hypersplenism. All patients with confirmed diagnosis of sickle cell disease at a tertiary referral teaching hospital, between January 1994 and December 2002 were interviewed and had their medical records reviewed. Seventy-seven patients with sickle cell disease were identified. Their ages ranged between 2 and 18 years (mean, 10.1 years). There were 35 females and 38 males. Thirty-seven (50.6%) had sickle beta-thalassaemia, and 36 (49.4%) had homozygous sickle cell anaemia. Of these, 26 had high level of Hb F and 11 had normal level of fetal haemoglobin (Hb F). Twenty-one patients (28%) had 63 episodes of acute splenic sequestration. Thirty-seven episodes were experienced by 12 patients with sickle beta-thalassaemia; of these 11 were major attacks with one fatality. Twenty-six episodes were experienced by nine patients with sickle cell anaemia. Splenomegaly and hypersplenism were greater in the acute splenic sequestration group than in the rest of the sickle cell anaemia patients, and the differences were extremely significant. ASSC was found in nine siblings of sickle beta-thalassaemia group, while none were found in the sickle cell anaemia group. The mean age of the first episode was significantly higher in sickle beta-thalassaemia, with significant differences in the levels of Hb F, Hb S, size of spleen and severity of crisis between both groups. In the sickle cell anaemia group the only significant difference between patients with and these without acute splenic sequestration was the difference in the size of spleen. In this study, the rate of ASSC in the sickle beta-thalassaemia patients was 32%, in contrast to 25% in the sickle cell anaemia patients. The risk of recurrence was about 70% in those who survived their first episodes. There was a close relationship between ASSC and subsequent hypersplenism. Important predictable factors for ASSC in sickle beta-thalassaemia patients were the presence of splenomegaly of more than 5 cm below the costal margin, history of acute splenic sequestration in siblings and high Hb F. Most of first episodes in sickle cell anaemia occur under the age of 2 years, while in sickle beta-thalassaemia the majority of patients have their first crisis at the age of > or =3.5 years.

Hypothalamic-pituitary-gonadal function in adolescent females with beta-thalassemia major.

OBJECTIVE: To evaluate the function of the hypothalamic-pituitary-gonadal axis in adolescent female patients with beta-thalassemia major. MATERIALS AND METHODS: A prospective study of the function of the hypothalamic-pituitary-gonadal axis function of 31 beta-thalassemia major females aged between 13 and 22 years and in 12 control females aged between 12 and 22 years. All were treated at Princess Rahma Teaching Hospital, Irbid, Northern Jordan between April 2001 and April 2003. RESULTS: Of the 31 beta-thalassemia major females, 13 (41.9%) had delayed puberty. Hypothalamic-pituitary-ovarian axis dysfunction was found in 15 patients (48.4%). Twelve patients (38.7%) had hypogonadotropic hypogonadism and 5 (16.1%) had ovarian failure. High levels of serum ferritin were significantly higher in patients with delayed puberty. CONCLUSION: Pituitary and ovarian dysfunction are common problems in beta-thalassemia major patients. The main possible cause is iron overload. This stresses the need for intensive and regular use of chelation therapy to prevent damage to the hypothalamic-pituitary-ovarian axis.

Caries risk in patients with thalassaemia major.

AIM: The aim of this study was to assess the prevalence and distribution of dental caries in subjects with thalassaemia major. DESIGN: Clinical examination for dental caries, diagnosed according to the WHO criteria. PARTICIPANTS: A total of 54 thalassaemic patients, 23 aged 6-9 (14 males and 9 females) and 31 aged 12-18 (17 males and 14 females) were examined. OUTCOME MEASURES: dmft, DMFT and plaque scores. RESULTS: The mean dmft was 6.92 for 6-7 year olds and 4.72 for 8-9 year olds. The DMFT values were 6.57 and 5.95 for ages 12-14 and 15-18, respectively. There was no statistically significant difference in caries prevalence (dmft/DMFT) between gender or between primary and permanent teeth. Only 17.4 per cent of the children aged 6-9 and 21.4 per cent of 12-18 years olds were caries free. The prevalence of dental caries in the thalassaemia patients was considerably higher (22.7 per cent) than that reported in a normal Jordanian sample (DMFT 6.26 vs 4.84). Very few fillings (1.4 per cent of the examined teeth) were observed, indicating a negligible rate of conservative treatment. More than half (61.1 per cent) of the patients had poor oral hygiene (plaque score > or = 2.0). CONCLUSIONS: The need for effective preventive measures, education and dental treatment need to be stressed for this caries risk group.

Effect of desferrioxamine in acute haemolytic anaemia of glucose-6-phosphate dehydrogenase deficiency.

The effectiveness of desferrioxamine (DFO) in ameliorating the severity of the acute haemolysis of glucose-6-phosphate dehydrogenase (G6PD) deficiency was studied in 167 children with G6PD deficiency during an acute haemolytic crisis. All patients received packed cell transfusion on admission if their Hb levels were <8 g/dl, which was repeated as needed. Eighty patients also received a single dose of DFO 30-40 mg/kg by slow intravenous infusion (DFO group). The remaining 87 children did not receive DFO (control group). The need for more than one transfusion was less frequent in the DFO group as compared to the control group (p = 0. 01). The need for late transfusion (transfusion after 36 h of admission) was also less in the DFO group (7%) compared to 21% in the control group (p = 0.02). On average, children in the DFO group needed less packed red blood cells (16.5 ml/kg body weight) than the control group (22.8 ml/kg body weight) and the difference was highly significant (p = 0.0001). We conclude from this study that DFO in a small dose is effective in the treatment of acute haemolytic crises of G6PD deficiency. It shortens the duration of the crisis and decreases the amount of blood transfusion needed.

Dental discoloration: an overview.

UNLABELLED: Often the first evidence of variation from normal in human dentition is an observable difference in the color of the teeth. During the past decade, the demand for conservative esthetic dentistry has grown dramatically. Tooth discoloration is a frequent dental finding, associated with clinical and esthetic problems. It differs in etiology, appearance, composition, location, severity, and firmness in adherence to the tooth surface. Basically, there are two types of tooth discolorations: those caused by extrinsic factors and those caused by intrinsic congenital or systemic influence. The intensity of stains may be worsened if there are enamel defects. Tooth discoloration presents two major challenges to the dental team. The first challenge is to ascertain the cause of the stain; the second is its management. CLINICAL SIGNIFICANCE: This article reviews the etiology and clinical presentation of dental stains and outlines treatment options.

Pyostomatitis vegetans in childhood.

UNLABELLED: Pyostomatitis vegetans is an oral eruption, characterized by small pustules, ulcers and erythematous vegetations of the labial and buccal mucosae as well as labial-attached gingivae. Its importance lies in its high correlation with inflammatory bowel disease. It is commonly associated with skin and inflammatory bowel disease and is rare in children. We here report a sister and brother with onset of the disease at the age of 5 and 7 years, respectively. It is the first report of familial pyostomatitis vegetans occurring in the youngest patients hitherto reported. CONCLUSION: The observation of two sibs with pyostomatitis, vegetans pyoderma gangrenosum and inflammatory bowel disease suggest a hereditary disposition to this rare triad.

Familial pyoderma gangrenosum presenting in infancy.

UNLABELLED: Pyoderma gangrenosum (PG) is a rare, poorly understood skin disease that occurs in all age groups. Less than 0.4% of patients are infants and represent a diagnostic challenge as early lesions may resemble other skin disorders. Here we report for the first time three siblings affected with PG all presenting during infancy. Unlike the older age group, the ulcers spared the legs but involved the buttocks, thighs and perianal area in all the infants. CONCLUSION: This is the first reported family with PG affecting three siblings suggesting autosomal recessive inheritance. The diagnosis may be more difficult in infants due to absence of underlying associated disorders and the tendency of the lesions to appear in areas where infants frequently have other dermatoses. PG characteristically involves the buttocks, thighs and perianal area and spares the legs.

Successful pregnancies following remission in childhood acute lymphoblastic leukaemia--case report.

We report two successful pregnancies in a 17-year-old Arab girl who had received modern combination chemotherapy and central nervous system minimal disease therapy for childhood acute lymphoblastic leukaemia at the age of 9.5 years.