Sickle Cell Disease Pathophysiology and Related Molecular and Biophysical Biomarkers.

One of the challenges in sickle cell disease is its clinical variability. Our ability to identify the complications that a patient is at risk for is limited by a lack of validated diagnostic and prognostic biomarkers. Clinical care is limited by a lack of diagnostics to capture the biological variability needed to precisely direct patient care. Many biomarkers have been proposed, but few validated. We must make a concerted effort as a field to rigorously test proposed biomarkers to improve outcomes for our patients.

Optimizing the management of chronic pain in sickle cell disease.

Chronic pain in sickle cell disease (SCD) refers to pain present on most days lasting over six months. It can start during childhood and the prevalence increases with age. By adulthood, over 55% of patients experience pain on over 50% of days; 29% reporting pain on 95% of days. The true prevalence of chronic pain in SCD is likely underappreciated as it is mostly managed at home. Patients with chronic pain and SCD frequently seek acute care for exacerbation of underlying chronic pain difficult to distinguish from their usual acute vaso-occlusive crises. When treating chronic pain in SCD, the challenge is distinguishing between non-SCD related etiologies versus chronic pain resulting from SCD pathophysiological processes. This distinction is important to delineate as it will drive appropriate management strategies. Chronic pain in SCD has profound consequences for the patient; is often associated with comorbid psychiatric illnesses (depression and anxiety), not dissimilar from other chronic pain syndromes. They may also experience challenges with sleep hygiene, various somatic symptoms, and chronic fatigue that impair quality of life. How best to treat chronic pain in SCD is not definitively established. Both acute and chronic pain in SCD is typically treated with opioids. Emerging data suggests that chronic opioid therapy (COT) is a suboptimal treatment strategy for chronic pain. This review will discuss the complexity of managing chronic pain in SCD; pain that may be dependent or independent of the underlying SCD diagnosis. We will also describe alternative treatment approaches to high-dose COT.

My tummy hurts - a case report of abdominal pain and macrocytic anemia caused by hypothyroidism.

A 6-year-old female presented with chronic intermittent abdominal pain for 1 year. She underwent extensive investigation, imaging and invasive procedures with multiple emergency room visits. It caused a significant distress to the patient and the family with multiple missing days at school in addition to financial burden and emotional stress the child endured. When clinical picture was combined with laboratory finding of macrocytic anemia, a diagnosis of hypothyroidism was made. Although chronic abdominal pain in pediatric population is usually due to functional causes such as irritable bowel syndrome, abdominal migraine and functional abdominal pain. Hypothyroidism can have unusual presentation including abdominal pain. The literature on abdominal pain as the main presentation of thyroid disorder is limited. Pediatricians should exclude hypothyroidism in a patient who presents with chronic abdominal pain. Contrast to its treatment, clinical presentation of hypothyroidism can be diverse and challenging, leading to a delay in diagnosis and causing significant morbidity. LEARNING POINTS: Hypothyroidism can have a wide range of clinical presentations that are often nonspecific, which can cause difficulty in diagnosis.In pediatric patients presenting with chronic abdominal pain as only symptom, hypothyroidism should be considered by the pediatricians and ruled out.In pediatric population, treatment of hypothyroidism varies depending on patients' weight and age.Delay in diagnosis of hypothyroidism can cause significant morbidity and distress in pediatrics population.

Postinduction Supportive Care of Pediatric Acute Myelocytic Leukemia: Should Patients be Kept in the Hospital?

Children with AML become profoundly neutropenic while they undergo remission induction chemotherapy. It is unknown whether these children should be kept in the hospital while they are severely neutropenic to prevent life-threatening complications associated with neutropenia and reduce fatality. We at our institution routinely discharge patients after completing remission induction chemotherapy in the presence of profound neutropenia, unless it is clinically contraindicated. We reviewed all AML patients who were consecutively treated at our hospital from 1989 to 2011. Thirteen patients were electively discharged after completion of induction I chemotherapy. Of the 13, 4 died due to relapse or complications of stem cell transplants (not due to neutropenia related complications). Another eight are long term survivors. In this very small series, discharge from the hospital even though patients were severely neutropenic did not adversely affect the survival.

Acute haemolytic anaemia and myolysis due to G6PD deficiency.

A 2-year-old African-American male patient with sickle cell trait developed cough, red coloured urine, pallor and fatigue. The patient was hospitalised. Diagnostic workup showed that he was glucose 6 phosphate dehydrogenase (G6PD) deficient in erythrocytes. He also had chest X-ray findings of pneumonia. His urine examination showed the presence of haemoglobin and myoglobin. On repeated questioning it was found that he had a moth ball in his mouth a few days prior to this medical episode. This case illustrates a rarely described complication of myolysis in G6PD deficient persons on exposure to a strong oxidant. A review of the literature showed that most people with G6PD deficiency tolerate exercise well without untoward effect in muscles. However, assay of myoglobin in urine has not been routinely performed in these patients during acute haemolytic episode, and thus it is uncertain how frequent myoglobulinaemia occurs in a similar stress situation.

Co-occurrence of Chiari malformations and sickle cell disease-a diagnostic dilemma: a report of 4 cases and review of literature.

The co-occurrence of sickle cell disease (SCD) and Chiari malformation (CM) poses clinical and diagnostic challenge since symptoms of both conditions may overlap. Although SCD and CM do not have a causal relationship, the overlapping neurologic symptoms may pose a diagnostic dilemma. To the best of our knowledge, the clinical manifestations and long-term consequence of CM in children with SCD has hitherto not been reported in the literature. We describe clinical manifestations of co-occurrence of SCD and CM in a case series of 4 African American children.

6-year-old girl with hydrocephalus.

With rare exceptions, pediatric tectal gliomas have been generally reported as low-grade tumors with relatively good prognosis. The patients are usually treated conservatively to manage the signs and symptoms of obstructive hydrocephalus. We report a case of a tectal glioma in a 6-years-old girl with histological features of anaplastic mixed oligoastrocytoma that continues to progress despite chemotherapy and radiation therapy.