Middle Lobe Syndrome in Children with Asthma: Review of 56 Cases

Objective. Middle lobe syndrome (MLS) is one of the complications of asthma. Its signs and symptoms are often nonspecific, causing delay in appropriate treatment. We aimed to review our pediatric asthmatic patients and provide differential characteristics between MLS and asthma worsening in order to target early diagnosis. Method. File records of all asthmatics (n = 3528) seen in our clinic during the last 2 years were retrospectively reviewed to identify the patients with MLS, and a case‐control study was undertaken. Files of 56 asthmatic children diagnosed as MLS, with a total of 63 episodes, and 63 matched controls with asthma worsening were analyzed and compared. Results. The incidence of MLS was 1.62% and half were below or at the age of 6. All cases with MLS were documented radiologically, and only 5 of the 63 episodes had physical findings suspicious for MLS. The most affected segments were right middle lobe (50%) and left lingula (26.2%). Although in all cases symptoms cleared, in 23 (36.5%) cases, atelectasis persisted radiologically. Compared to controls, patients with MLS included less atopics (34.9% vs. 59.4%, p < 0.05) and fewer boys (52.4% vs. 71.4%, p < 0.05), and they reported less frequent dyspnea (57.1% vs. 85.9%), more frequent sputum production (49.2% vs. 7.8%), and longer duration of complaints (22.0 ± 6.23 vs. 2.4 ± 0.31 days) (p < 0.001, for each). Furthermore, the resolution of symptoms took significantly longer (45.2 ± 9.3 vs. 3.3 ± 0.4 days, p < 0.001). Conclusion. We conclude that complicating MLS in childhood asthma is more frequent in younger ages, girls, and nonatopics. In most cases, physical findings are not informative, and chest radiographs diagnose most but not all cases. The most suggestive symptoms are unresolving/persisting symptoms during admission and/or following treatment.     

Higher Metabolic Syndrome in Obese Asthmatic Compared to Obese Nonasthmatic Adolescent Males

The relationship between asthma and obesity has been documented in children and adolescents; however, few studies on metabolic syndrome and asthma have been performed. Objective. To determine the prevalence of metabolic syndrome in adolescents among the following groups: obese with asthma (OA), obese without asthma (ONA), nonobese with asthma (NOA), and nonobese without asthma (NONA). Patients and Methods. The authors measured anthropometric (height, weight, waist circumference, body mass index, and waist-hip ratio), clinical (Tanner stage, blood pressure, fat and muscle reserve, and exercise), and biochemical parameters (basal and load glucose, cholesterol, triglycerides, high-density lipoproteins, uric acid, and insulin) in 500 Mexican adolescents. Results. A total of 111 OA, 198 ONA, 63 NOA, and 71 NONA adolescents completed the study. There were no differences in age, height, Tanner stage, high-density lipoproteins, or basal glucose among groups. Cholesterol, triglycerides, uric acid, basal insulin, and homeostasis model assessment (HOMA)-IR were significantly higher among the obese than nonobese groups but were similar between the OA and ONA groups. The prevalence of impaired fasting glucose was significantly higher among ONA versus OA males. The prevalence of metabolic syndrome (define as ≥3 abnormal cardiometabolic risk factors by de Ferranti, Cook, and International Diabetes Federation [IDF] criteria) was higher among OA teens than in the ONA group; however, this association was significant only among males. Adolescents from the ONA group were able to perform significantly more vigorous exercise than the other groups. Conclusion. Adolescent males who were obese and also had mild persistent asthma had a significantly higher prevalence of metabolic syndrome than obese males without asthma. However, overall, asthma seems to confer a protective effect against the prediabetes condition in males.     

Functional genomic screen of human stem cell differentiation reveals pathways involved in neurodevelopment and neurodegeneration

Human embryonic stem cells (hESCs) can be induced and differentiated to form a relatively homogeneous population of neuronal precursors in vitro. We have used this system to screen for genes necessary for neural lineage development by using a pooled human short hairpin RNA (shRNA) library screen and massively parallel sequencing. We confirmed known genes and identified several unpredicted genes with interrelated functions that were specifically required for the formation or survival of neuronal progenitor cells without interfering with the self-renewal capacity of undifferentiated hESCs. Among these are several genes that have been implicated in various neurodevelopmental disorders (i.e., brain malformations, mental retardation, and autism). Unexpectedly, a set of genes mutated in late-onset neurodegenerative disorders and with roles in the formation of RNA granules were also found to interfere with neuronal progenitor cell formation, suggesting their functional relevance in early neurogenesis. This study advances the feasibility and utility of using pooled shRNA libraries in combination with next-generation sequencing for a high-throughput, unbiased functional genomic screen. Our approach can also be used with patient-specific human-induced pluripotent stem cell-derived neural models to obtain unparalleled insights into developmental and degenerative processes in neurological or neuropsychiatric disorders with monogenic or complex inheritance.     

Bioassay and Radioimmunoassay of Plasma Gastrin in a Case of Zollinger-Ellison Syndrome

Fasting plasma gastrin levels were measured in a patient with the Zollinger-Ellison syndrome by both bioassay and radioimmunoassay. The level remained constant following total gastrectomy, but fell sharply following parathyroidectomy. Although the bioassay gave gastrin levels which were consistently 2 to 3 times higher than those obtained by radioimmunoassay, the values showed a similar trend. However, both methods gave almost identical results for the gastrin contents of antral mucosa and pancreatic tumour samples from the patient. It is suggested that biologically active gastrin-like substances not detectable by radioimmunoassay were present in the patient's plasma.     

A FAMILY WITH LIDDLE'S SYNDROME CAUSED BY A MUTATION IN THE β SUBUNIT OF THE EPITHELIAL SODIUM CHANNEL

Liddle's syndrome is a rare form of autosomal-dominant salt-sensitive hypertension.Constitutive activation of the amiloride-sensitive distal renal epithelial sodium channel (ENaC) is essential for salt-sensitive hypertension. Recently, several DNA analysis studies have indicated that there is a mutation of C-terminus of either the β or γ subunit. We sequenced the C-termini of the β and γ subunits of the ENaC in a Japanese family with hypertension and hypopotassemia without excess minerarocorticoids, clinically diagnosed as Liddle's syndrome. The mutation of the ENaC of this family was β R564X. Since such case seem to be rare in the literature, detailed data are shown in this report.     

Spontaneous Coronary Artery Dissection in a Young Man with a Factor V Leiden Gene Mutation: A Case Report and Review of the Literature

Spontaneous coronary artery dissection is a rare but increasingly recognized cause of acute myocardial ischemia in young adults, especially in women. We report a case of spontaneous coronary dissection in a young healthy man who was also a carrier of the factor V Leiden gene mutation.     

Investigation of the Aortic Pulse Wave Velocity in Patients with Gilbert’s Syndrome

Arterial stiffness is currently the “gold standard” measure of aortic (carotid-femoral) pulse wave velocity (PWV), which is an important independent predictor of risk of developing a cardiovascular event. Gilbert’s syndrome is a congenital disorder characterized by intermittent and non-hemolytic elevation of indirect bilirubin levels due to the deficiency of the enzyme UDP-glucuronyl transferase in the liver and many prospective studies found an inverse relationship between bilirubin levels and cardiovascular events in these patients. We aimed to investigate serum bilirubin levels and arterial stiffness parameters in patients with Gilbert’s syndrome in this study. A total of 53 cases, consisting of 26 patients with a diagnosis of Gilbert’s syndrome and 27 healthy control subjects, were included in the study. Serum bilirubin levels, other routine blood chemistry, and arterial stiffness measurements were recorded. The mean ages of Gilbert’s syndrome and the control group were 31.5 ± 9.7 and 36.8 ± 11.1 years, respectively. PWV measurements were significantly lower in Gilbert syndrome patients (6.68 and 7.3 m/s in patients and controls; respectively) (P < .05). In correlation analysis in Gilbert’s syndrome patients, PWV had a significant correlation with total and indirect bilirubin levels (r = ?0.370, P = .009/r = ?0.495, P = .003, respectively). Gilbert’s syndrome patients have lower PWV measurements compared to healthy subjects, and the total and indirect bilirubin levels are also associated with PWV measurements. These findings may indicate the decreased atherosclerotic disease incidence in Gilbert’s syndrome patients.