Paternal isodisomy of chromosome 7 with cystic fibrosis and overgrowth

We have diagnosed a boy with cystic fibrosis (CF) due to paternal UPD presenting with overweight and developmental delay, not typical features to CF patients. Two previously reported patients with paternal UPD(7) did not present overgrowth. The discrepancy between the phenotype of this boy and the other two patients raises the question of imprinted genes or homozygotization of a disease-causing gene in paternal UPD7.     

Dorsal raphe vs. median raphe serotonergic antagonism. Anatomical, physiological, behavioral, neuroendocrinological, neuropharmacological and clinical evidences: relevance for neuropharmacological therapy

Monoaminergic neurons located in the central nervous system (CNS) are organized into complex circuits which include noradrenergic (NA), adrenergic (Ad), dopaminergic (DA), serotonergic (5-HT), histaminergic (H), GABA-ergic and glutamatergic systems. Most of these circuits are composed of more than one and often several types of the above neurons. Such physiologically flexible circuits respond appropriately to both external and internal stimuli which, if not modulated adequately, can trigger pathophysiologic responses. A great deal of research has been devoted to mapping the multiple functions of the CNS circuitry, thereby forming the basis for effective neuropharmacological therapeutic approaches. Such lineal strategies that seek to normalize complex and mixed physiological disorders, however, meet only partial therapeutic success and are often followed by undesirable side effects and/or total failure. In light of these, we have worked to develop possible models of CNS circuitry that are less affected by physiological interaction using the models to design more effective therapeutic approaches. In the present review, we cite and present evidence supporting the dorsal raphe versus median raphe serotonergic circuitry as one model of a reliable paradigm, necessary to the clear understanding and therapy of many psychiatric and even non-psychiatric disturbances.     

Pre-ablative diagnostic whole-body scan following total thyroidectomy for well-differentiated thyroid cancer: is it necessary?

OBJECTIVE: This study reviewed the incidence of positive pre-ablative diagnostic scan after total thyroidectomy and the efficacy of the current ablative dose. The predictive factors for outcome using a standard ablative dose and postoperative complications of total thyroidectomy were also examined. METHODS: This was a retrospective review of patients referred for radioiodine ablation after total thyroidectomy between September 1997 and September 2001. RESULTS: Forty patients were included in this study, of whom 95% had a positive scan after total thyroidectomy. Of the 30 patients who underwent standard 80-mCi radioiodine ablation, 21 (70%) had successful single ablation while the remaining nine patients needed a higher ablative dose. There were no significant differences between patients who had successful ablation with the standard dose and those who did not in terms of tumour size, patient age, lymph node status and extra-thyroidal extension. Fifteen percent suffered from permanent hypoparathyroidism requiring calcium supplementation. Three patients had documented recurrent laryngeal nerve paralysis. CONCLUSION: Bypassing the pre-ablative diagnostic scan is feasible. The present ablation dose of 80 mCi of radioiodine is effective. The relatively high postoperative morbidity after difficult total thyroidectomy suggests less aggressive excision and postoperative radioiodine ablation of the remnant tissue.     

Cerebrovascular response to arousal from NREM and REM sleep

STUDY OBJECTIVE: To determine the effect of arousal from sleep on cerebral blood flow velocity (CBFV) in relation to associated ventilatory and systemic hemodynamic changes. PARTICIPANTS: Eleven healthy individuals (6 men, 5 women). MEASUREMENTS: Pulsed Doppler ultrasonography was used to measure CBFV in the middle cerebral artery with simultaneous measurements of sleep state (EEG, EOG, and EMG), ventilation (inductance plethysmography), heart rate (ECG), and arterial pressure (finger plethysmography). Arousals were induced by auditory tones (range: 40-80 dB; duration: 0.5 sec). Cardiovascular responses were examined beat-by-beat for 30 sec before and 30 sec after auditory tones. RESULTS: During NREM sleep, CBFV declined following arousals (-15% +/- 2%; group mean +/- SEM) with a nadir at 9 sec after the auditory tone, followed by a gradual return to baseline. Mean arterial pressure (MAP; +20% +/- 1%) and heart rate (HR; +17% +/- 2%) increased with peaks at 5 and 3 sec after the auditory tone, respectively. Minute ventilation (VE) was increased (+35% +/- 10%) for 2 breaths after the auditory tone. In contrast, during REM sleep, CBFV increased following arousals (+15% +/- 3%) with a peak at 3 sec. MAP (+17% +/- 2%) and HR (+15% +/- 2%) increased during arousals from REM sleep with peaks at 5 and 3 sec post tone. VE increased (+16% +/- 7%) in a smaller, more sustained manner during arousals from REM sleep. CONCLUSIONS: Arousals from NREM sleep transiently reduce CBFV, whereas arousals from REM sleep transiently increase CBFV, despite qualitatively and quantitatively similar increases in MAP, HR, and VE in the two sleep states.     

Comparison of thrombelastometry with simplified acute physiology score II and sequential organ failure assessment scores for the prediction of 30-day survival: a cohort study

Disseminated intravascular coagulation contributes to mortality of sepsis. The study was performed to investigate thromboelastometry as a potential predictor of 30-day survival in severe sepsis and to compare thromboelastometry to Simplified Acute Physiology Score II (SAPS II) and Sequential Organ Failure Assessment (SOFA) scores. Ninety-eight patients with severe sepsis were included in the cohort study. Thromboelastometry clotting time, clot formation time (CFT), maximum clot firmness (MCF), and α angle as well as SAPS II and SOFA scores were determined at the day of diagnosis. Thromboelastometry variables differed in survivors and nonsurvivors. Mean CFT was prolonged (276 ± 194 vs. 194 ± 109 s, P = 0.021; mean ± SD), and both MCF (52.7 ± 12.1 mm vs. 57.3 ± 11.5 mm, P = 0.042) and α angle (53.4 ± 12.8 degrees vs. 58.9 ± 11.8 degrees, P = 0.028) were reduced in nonsurvivors. Clotting time and SAPS II and SOFA scores were not different. Thromboelastometry values were classified as normal and pathological, respectively, using the median of the variables as the cutoff. Thromboelastometry values were normal if CFT was less than 185 s, MCF was greater than 55 mm, and α was greater than 57.5 degrees. Thirty-day survival was 85.7% when all thromboelastometry variables were normal, but 58.7% when at least one variable was pathological (P = 0.005). Multivariate analysis revealed that the absence or presence of at least one pathological thromboelastometry variable allows for better prediction of 30-day survival in severe sepsis than the SAPS II and SOFA scores (P = 0.01; odds ratio, 4.1), respectively, emphasizing the importance of the coagulation system in sepsis.     

Varicella myopericarditis mimicking myocardial infarction in a 17-year-old boy

Varicella (chickenpox), a common childhood infection caused by the varicella-zoster virus, is self-limiting and usually benign. Although atypical manifestations of the virus are occasionally seen, it rarely presents with cardiovascular sequelae. Cardiovascular complications of varicella can include pericarditis, myocarditis, or endocarditis. Herein, we report the case of a 17-year-old boy who had varicella infection and severe chest pain. Examination revealed atypical electrocardiographic findings of pericarditis and remarkably elevated cardiac biomarker levels: peak cardiac troponin I, 37.2 ng/mL; total creatine kinase, 1,209 U/L; and creatine kinase-MB fraction, 133.6 ng/mL. After results of coronary angiography reliably excluded ischemia and myocardial infarction, the diagnosis was varicella myopericarditis. The patient was placed on a medical regimen during and after 5 days of hospitalization. In 2 weeks, he was asymptomatic, and at 6 months, he was doing well and had normal electrocardiographic and echocardiographic results.To our knowledge, cardiac enzyme elevations to these levels have not been reported in cases of cardiovascular sequelae of varicella. We discuss the diagnostic challenges of this atypical case and suggest that clinicians be aware that varicella disease is most often, but not always, benign.     

Hybrid procedure in pseudoaneurysm of the descending thoracic aorta in Hospital Kuala Lumpur

Conventional open repair for Thoracoabdominal aortic aneurysm (TAA) is associated with high morbidity and mortality. Spinal cord ischemia (SCI), renal failure, bowel ischemia and mortality are established complications following this procedure. With the advent of endovascular stent technology, various novel approaches have been described to reduce these complications, namely fenestrated stent graft and hybrid procedure. We present a case of hybrid procedure in a pseudoaneurysm of descending thoracic aorta done in Kuala Lumpur Hospital.     

The contribution of reproductive factors and family history towards premenopausal breast cancer risk in Kuala Lumpur, Malaysia

Breast cancer is the most common cancer among Malaysian women. This study aimed to determine the reproductive for premenopausal breast cancer risk in Kuala Lumpur, Malaysia. A case-control study was conducted in 216 histopathologically confirmed cases of premenopausal breast cancer and 216 community-based controls that were matched by age within a 5-year period and ethnicity. The results of this study showed that premenopausal breast cancer risks were strongly related to parity, number of live births and family history of breast cancer. Premenopausal women with these known reproductive and family history risk factors should take extra measures to undergo appropriate screening method for early detection of breast cancer.     

Pediatric intracranial hypertension: Experience from 2 Tertiary Centers

Objectives:To review the experience of 2 tertiary centers in Saudi Arabia with intracranial hypertension (IH) in the pediatric population.Methods:We retrospectively reviewed and analyzed pediatric patients diagnosed with IH from June 2002 to May 2017 in 2 institutes.Results:We identified 53 patients (30 females and 23 males) with a mean age of 7 years at the time of presentation. Among them, 41 patients were younger than 12 years, and 12 were older. Obese and overweight patients constituted 27.00% (n = 14) of all cases, 8 (66.7%) of whom were older than 12 years. The most common presenting feature was papilledema followed by headache. Vitamin D deficiency, which constituted the most common associated condition, was identified in 12 (22.6%) patients. Acetazolamide was the treatment option in 98.11% of patients, and only 5.7% underwent surgical interventions. The length of follow-up ranged from 6 months to 8 years.Conclusion:Intracranial hypertension is rare in children and commonly seen in overweight females older than 12 years similar to adults. Patients younger than 12 years tend to develop secondary IH. More studies are needed to characterize the clinical presentation and guide the management plan.

Intracranial hypertension (IH) is rarely reported in children. It is characterized by increased intracranial pressure (ICP) without any evidence of underlying brain pathology, structural abnormalities, hydrocephalus, or any abnormal meningeal enhancement.1 The incidence of IH differs from region to region due to variations in the prevalence of obesity and other secondary causes. The annual incidence of IH in children is 0.9 per 100,000 in the United States,2 0.5 per 100,000 in Germany,3 0.6 per 100,000 in Nova Scotia and Prince Edward Island in Eastern Canada,4 and 1.2 per 100,000 in Croatia.5 A study carried out in Oman estimated the incidence of IH to be 1.9 per 100,000 in children below 15 years of age; with it being higher in female children.6 The present study aimed to review the clinical presentation, possible aetiological factors, diagnosis, management, and outcomes in children with IH in 2 tertiary institutes in Saudi Arabia.