Successful management of congenital dyserythropoietic anemia type I with interferon alpha in a child

Congenital dyserythropoietic anemia type I (CDA I) is a rare inherited hematological disorder characterized by macrocytic anemia and ineffective erythropoiesis with pathognomonic morphological features that include internuclear chromatin bridges, spongy heterochromatin, and invagination of the cytoplasm into the nuclear area in erythroid precursors. Treatment of anemia with the usual hematinics is without effect and 15% of patients need chronic transfusions. Successful treatment of CDA I with interferon-alpha was noted. The authors report a patient with CDA I who had required transfusions every 2-3 months since the neonatal period and responded to recombinant interferon-alpha therapy with the findings of electron microscopic investigations.     

Hypoglycemia and its effects on the brain in children with type 1 diabetes mellitus

The incidence studies on hypoglycemia in Type 1 Diabetes have revealed that the younger the child the more frequent and severe are the hypoglycemic episodes. The brain does not store glycogen and perform gluconeogenesis, it relies on a continuous supply of glucose from blood. There are several studies demonstrating the brain's ability to use lactate, alanine and ketone as alternative fuels yet there is no evidence showing that this mechanism works in diabetic individuals. During hypoglycemia, cerebral blood flow increases very little in children. It is unlikely that this mechanism alone explains the maintenance of glucose utilization. Up regulation of GLUT transporters may be an additional or alternative protective mechanism. Severe hypoglycemic episodes experienced particularly in early childhood can cause deterioration in neurocognitive functions. There are significant individual differences in terms of vulnerability to hypoglycemia. Adaptive responses to hypoglycemia might vary according to both the degree and frequency of prior hypoglycemia and the presence of structural brain changes induced by chronic hyperglycemia.     

The related causes in very early morning onset of stroke

We investigated the influence of early awakening and related factors on onset of cerebrovascular disease (CVD). Totally 1199 stroke patients, in whom the onset time was known, at 3 reference hospitals were included in this study. The effects of demographic, medical, and pathophysiological factors on the circadian pattern of an unselected series of patients with ischemic stroke were analyzed. Nine-hundred seventeen CVD patients with cerebral infarction (CI), 240 patients with intracerebral hemorrhage (CH), and 42 patients with subarachnoid hemorrhage (SAH) were identified. The greatest portion of strokes (32.5%) occurred between 03:00 and 06:00 a.m. Nearly one half of the strokes in this series occurred in the very early- to mid-morning hours. This analysis of strokes provides strong evidence with a higher risk in the early morning hours (03:00 a.m. to 06:00 a.m.), and lower risk during the night time period (21:00 p.m. to midnight). Approximately 1 of every 3 strokes (1 of 3 ischemic strokes, 1 of 6 hemorrhagic strokes, and 1 of 8 subarachnoid hemorrhages) is attributable to the early morning excess. This difference tried to be explained by three ways: cold weather, religious factors, and physiological mechanisms.     

Massive hydroxychloroquine overdose

We report a case presenting with massive overdose of hydroxychloroquine who survived without any sequelae. A 17-year-old girl presented to the Emergency Department 45 min after the ingestion of 22 g of hydroxychloroquine in a suicide attempt. We believe this is highest dose yet reported in the medical literature. The patient developed hypotension, life-threatening ventricular arrhythmias and mild hypokalemia. She was managed with saline infusion and dopamine for hypotension, gastric lavage and activated charcoal for decontamination, lidocain, magnesium sulfate and defibrillation for pulseless ventricular tachycardia. Potassium replacement and bicarbonate administration were performed. Quick treatment of hypotension, gastric decontamination, continuous long-term cardiac monitoring, and treatment of arrhythmias are the cornerstones of hydroxychloroquine overdose management.     

Distally based perforator medial plantar flap: a new flap for reconstruction of plantar forefoot defects

In this article the author describes 2 cases of a distally based perforator medial plantar flap that were transferred successfully from the nonweight-bearing instep region to the weight-bearing plantar forefoot (defects, 8 x 5 cm and 6 x 5 cm respectively). This flap is nourished solely by perforators of the medial plantar vessels. The advantages of this flap are the protection of the vascular supply of the foot (because both posterior tibial and medial plantar vascular systems are preserved), anterograde flow of the vascular supply (which gives an additional advantage of expecting less venous insufficiency compared with reverse-flow flaps), no dependence on retrograde vascular communications, minimal donor site morbidity, and transport of structurally similar tissues to the plantar forefoot.     

Admission lactate level and the APACHE II score are the most useful predictors of prognosis following torso trauma

BACKGROUND: Markers of dysoxic metabolism and scoring systems for triage have been widely used in critically injured patients. However, so far, no model is sufficiently reliable to predict the outcome in trauma victims. The purposes of the present study, therefore, were to determine whether a correlation exits between the main trauma scoring systems and the markers of dysoxic metabolism. Moreover, to assess if any of the admission parameters can be used to indicate outcome. METHODS: Sixty-four patients were included in this study. Admission data, including arterial lactate level, base deficit (BD), pH, revised trauma score (RTS), injury severity score (ISS), shock index (SI), and Acute Physiology and Chronic Health Evaluation (APACHE II), were collected and analysed by logistic regression analysis. Degree of association between continuous variables were calculated by either Pearson's or Spearman's correlation coefficient, where applicable. The dependence of lactate on two or more other variables was evaluated by multiple linear regression analysis. RESULTS: Logistic regression analysis showed that the fatal outcome following major torso trauma was principally associated with the APACHE II score and lactate. The specificity and the sensitivity of this logistic regression model was 94.6 and 79.2%, respectively. According to standardised linear regression coefficients, BD was the best single predictor of lactate, and APACHE II added a small amount of predictive power. The proportion of total variation in lactate level explained by base deficit, APACHE II and age is R2=85.2%. CONCLUSION: APACHE II score and the arterial lactate level are the most important determinants of clinical outcome in critically injured patients. A correlation exits between lactate and APACHE II and between lactate and base deficit.     

Surgical management of childhood bronchiectasis due to infectious disease

BACKGROUND: The purpose of this study was to estimate operative risk and to identify indicators of adverse prognosis in patients undergoing resection for childhood bronchiectasis. METHODS: From January 1985 to February 2001, patients undergoing resection for bronchiectasis were studied. The indications for operation were failure of medical therapy in 33 patients (94.2%) and hemoptysis in 2 (5.7%). The mean duration of symptoms was 4.2 years (range, 1-9 years). Surgical treatment included lobectomy in 17 patients (48.5%), pneumonectomy in 7 (20%), lobectomy plus segmentectomy in 5 (14.2%), bilobectomy in 2 (5.7%), and segmentectomy in 4 (11.4%). RESULTS: The operative mortality rate was 2.8%, and the morbidity rate was 17.6%. The mean follow-up in 34 patients was 5.4 years (range, 1-12 years). Overall, 22 patients (64.7%) were asymptomatic after surgery. Clinical improvement was noticed in 8 patients (23.5%), and no improvement was noticed in 4 (11.7%). Complete resection resulted in a significantly better clinical outcome than incomplete resection (P <.05). CONCLUSIONS: Surgery for childhood bronchiectasis can be performed with low mortality and morbidity. Complete resection should be performed when possible.     

The comparison of nail and serum trace elements in patients with epilepsy and healthy subjects

The objective of this prospective study was to determine the levels of manganese (Mn), copper (Cu), and zinc (Zn) levels in both nail and serum from patients with epilepsy. For this purpose, levels of these elements were measured in 31 patients with epilepsy and 19 healthy subjects. Element analyses were carried out by atomic absorption spectrophotometer (AAS). Increased Mn levels were detected in nail of patients with epilepsy compared to healthy controls (P<.008). The main nail Zn and Cu levels were found to be unchanged in epileptic patients compared to control subjects. There were no significant differences in serum Mn and Zn levels between epileptic patients and control subjects. However, there was a statistically significant increase in serum Cu levels in patients with epilepsy in comparison with control group (P<.009). Our results demonstrate that some trace element levels may vary in epileptic patients, and because of the more stable status, the analysis of these element levels in some tissues such as nail might be superior to serum analysis.