Underdiagnosed Illness Research Articles

Diagnosis and Treatment of Sleep Apnea in Children: A Future Perspective Is Needed.

Obstructive sleep apnea (OSA) in children is a prevalent, but still, today, underdiagnosed illness, which consists of repetitive episodes of upper airway obstruction during sleep with important repercussions for sleep quality. OSA has relevant consequences in the pediatric population, mainly in the metabolic, cardiovascular (CV), and neurological spheres. However, contrary to adults, advances in diagnostic and therapeutic management have been scarce in the last few years despite the increasing scientific evidence of the deleterious consequences of pediatric OSA. The problem of underdiagnosis and the lack of response to treatment in some groups make an update to the management of OSA in children necessary. Probably, the heterogeneity of OSA is not well represented by the classical clinical presentation and severity parameters (apnea/hypopnea index (AHI)), and new strategies are required. A specific and consensus definition should be established. Additionally, the role of simplified methods in the diagnosis algorithm should be considered. Finally, the search for new biomarkers for risk stratification is needed in this population. In conclusion, new paradigms based on personalized medicine should be implemented in this population.

Obstructive Sleep Apnea and Hypertension: Updates to a Critical Relationship.

Purpose of ReviewObstructive sleep apnea (OSA) is an underdiagnosed illness linked to essential hypertension (HTN), resistant hypertension (r-HTN), and cardiovascular disease (CVD). This review provides updates on the epidemiology, pathophysiology, and treatments of OSA-associated HTN.Recent FindingsMild sleep apnea increases the risk for HTN. Eighty-nine percent of young patients aged 18–35 with HTN not attributed to secondary causes have underlying OSA. Home sleep studies are noninferior to formal polysomnography for OSA diagnosis. Nocturnal oxygen desaturation rate is positively correlated with HTN severity. Gut microbiome neo-colonization in response to high-fat diet cravings in patients with OSA alters immune function and worsens HTN. Carbonic anhydrase inhibitors and probiotics show newfound potential for OSA-associated HTN treatment. OSA recognition improves hospital outcomes after a STEMI. Hypoxia-inducible factor (HIF) transcription increases in a dose-dependent manner to hypoxia, and HIFs are strongly linked to cancer growth.SummaryOSA and HTN are comorbid conditions with adversely connected pathophysiology including sympathetic hyperactivity, gut dysbiosis, proinflammation, endothelial damage, rostral fluid shifts, pharyngeal collapse, intravascular fluid retention, nocturnal energy expenditure, and metabolic derangements. The dose–response effect of OSA on HTN severity challenges blood pressure (BP) control, so those with refractory HTN should be screened for OSA.

Utility of ankle-brachial index in screening for peripheral arterial disease in rural India: A cross-sectional study and review of literature

BackgroundPeripheral arterial disease (PAD) is an underdiagnosed illness often affecting the elderly population. Ankle brachial index (ABI) is a good diagnostic tool for PAD in outpatient practice, but remains underused. Materials and methodsPatients were recruited from an outpatient medical camp in rural India, and assessed for symptoms and pre-existing risk factors. Measured ABI≤0.9 was considered abnormal and considered PAD. ResultsOut of 100 patients recruited, PAD was diagnosed in 57 patients. Associated risk factors were like age >55years (67%), hypertension (66%), smoking (69%) and diabetes mellitus (35%) were common. ConclusionPAD is a very common and underdiagnosed illness in rural India. A simple tool like ABI can help diagnosis in underserved areas.

First Aid for Pesticide Exposure

Pesticide poisoning is a commonly under-diagnosed illness. This 5-page fact sheet describes how to recognize the early symptoms of pesticide exposure and provide basic first aid for the treatment of victims. It explains how to provide initial treatment in the case of pesticide exposure on the skin, in the eye, through inhalation, and in the mouth or swallowed. Written by Frederick M. Fishel, and published by the Agronomy Department, December 2015. PI256/PI256: First Aid for Pesticide Exposure (ufl.edu)

Successful Implantation of a Coronary Stent Graft in a Peripheral Vessel.

Peripheral artery disease (PAD) is a complex, often underdiagnosed illness with rising prevalence in western world countries. During the past decade there has been a rapid advance especially in the field of endovascular treatment of PAD. Here we present for the first time a case reporting on the placement of coronary stent graft in a peripheral vessel for the management of a peripheral side branch perforation. Interventional angiologists or radiologists may consider such an option for complication management after injury of smaller vessels during peripheral percutaneous interventions. Further specialization and novel options of complication management as described in our case may shift the treatment from surgical to even more endovascular treatment procedures in the future.

Q fever in China: a systematic review, 1989-2013.

Q fever, first described in 1937, is a worldwide zoonosis caused by Coxiella burnetii that has long been considered an under-reported and under-diagnosed illness. In China, the disease was initially reported in 1950 and in the last 25 years (1989-2013) there have been 29 reports on Q fever in China, nearly half of which were in the last 5 years. These publications have largely been in Chinese and in this review we summarize their findings to enable a better understanding of Q fever in China. The overall prevalence of C. burnetii infections in the reports is 10% (1139/11 209) in people, 15% (288/1918) in cattle and 12% (176/1440) in goats. These infections occurred widely in China with positive people and/or animals reported in 64 cities/municipalities from 19 provinces, particularly those in the eastern, western and northern areas. Cattle and goats had the highest seroprevalences of all the domestic animals studied and a wide variety of ticks were found to be infected. Mice were also commonly infected and had high copy numbers of C. burnetii DNA, suggesting they might be important in the epidemiology of Q fever in China.

P237 – 1930 EAST syndrome (Epilepsia Ataxia Sensorineural Deafness Tubulopathy) caused by mutation in KCNJ10: an underdiagnosed illness?

P237 – 1930 EAST syndrome (Epilepsia Ataxia Sensorineural Deafness Tubulopathy) caused by mutation in KCNJ10: an underdiagnosed illness?

Pediatric Bipolar Disorder: Underdiagnosed or Fiction?

Diagnoses of children with pediatric bipolar disorder (PBD) have surged in recent years. This article explores three alternative explanations for the increase in these diagnoses: (a) PBD had previously been unrecognized and underdiagnosed by clinicians; (b) the symptoms of PBD are largely a result of iatrogenic effects and side effects of psychostimulant medications, for example, Ritalin and Adderall; and (c) changes to the diagnostic system now classify previously normal behaviors of childhood as symptoms of PBD. After reviewing the evidence, this article concludes that the increase in diagnoses is primarily due to the iatrogenic effects of psychostimulant medications and to the changes to the diagnostic system, and is not a previously unrecognized or underdiagnosed illness of unknown origin.

Dementia Assessment and Management

Dementia is a common yet potentially underdiagnosed illness in the long-term care setting. Targeted screening for dementia should be routine practice, as a diagnosis of dementia will have benefits to the care of the patient. Assessment of dementia should proceed in a step-wise approach and should be tailored to the needs of the individual patient. Management of dementia involves care for the cognitive changes, behavioral changes, functional changes, and emotional issues. It also involves the management of other illnesses in light of the dementia, consideration of the needs and well-being of the caregiver, and particular attention to advanced care planning. Management techniques and goals should evolve as the patient's illness progresses. This comprehensive approach to management of dementia may reduce morbidity and mortality associated with this illness. This model of care provides patients and families with needed information and resources, a clear view of prognosis, and necessary attention to quality of life issues.

Dementia Assessment and Management

Dementia is a common yet potentially underdiagnosed illness in the long-term care setting. Targeted screening for dementia should be routine practice, as a diagnosis of dementia will have benefits to the care of the patient. Assessment of dementia should proceed in a step-wise approach and should be tailored to the needs of the individual patient. Management of dementia involves care for the cognitive changes, behavioral changes, functional changes, and emotional issues. It also involves the management of other illnesses in light of the dementia, consideration of the needs and well-being of the caregiver, and particular attention to advanced care planning. Management techniques and goals should evolve as the patient's illness progresses. This comprehensive approach to management of dementia may reduce morbidity and mortality associated with this illness. This model of care provides patients and families with needed information and resources, a clear view of prognosis, and necessary attention to quality of life issues.

Immune-Mediated Hemolytic Anemia

Hemolytic anemia due to immune function is one of the major causes of acquired hemolytic anemia. In recent years, as more is known about the immune system, these entities have become better understood and their treatment improved. In this section, we will discuss three areas in which this progress has been apparent. In Section I, Dr. Peter Hillmen outlines the recent findings in the pathogenesis of paroxysmal nocturnal hemoglobinuria (PNH), relating the biochemical defect (the lack of glycosylphosphatidylinositol [GPI]-linked proteins on the cell surface) to the clinical manifestations, particularly hemolysis (and its effects) and thrombosis. He discusses the pathogenesis of the disorder in the face of marrow dysfunction insofar as it is known. His major emphasis is on innovative therapies that are designed to decrease the effectiveness of complement activation, since the lack of cellular modulation of this system is the primary cause of the pathology of the disease. He recounts his considerable experience with a humanized monoclonal antibody against C5, which has a remarkable effect in controlling the manifestations of the disease. Other means of controlling the action of complement include replacing the missing modulatory proteins on the cell surface; these studies are not as developed as the former agent. In Section II, Dr. Alan Schreiber describes the biochemistry, genetics, and function of the Fc gamma receptors and their role in the pathobiology of autoimmune hemolytic anemia and idiopathic thrombocytopenic purpura due to IgG antibodies. He outlines the complex varieties of these molecules, showing how they vary in genetic origin and in function. These variations can be related to three-dimensional topography, which is known in some detail. Liganding IgG results in the transduction of a signal through the tyrosine-based activation motif and Syk signaling. The role of these receptors in the pathogenesis of hematological diseases due to IgG antibodies is outlined and the potential of therapy of these diseases by regulation of these receptors is discussed. In Section III, Dr. Wendell Rosse discusses the forms of autoimmune hemolytic anemia characterized by antibodies that react preferentially in the cold-cold agglutinin disease and paroxysmal cold hemoglobinuria (PCH). The former is due to IgM antibodies with a common but particular structure that reacts primarily with carbohydrate or carbohydrate-containing antigens, an interaction that is diminished at body temperature. PCH is a less common but probably underdiagnosed illness due to an IgG antibody reacting with a carbohydrate antigen; improved techniques for the diagnosis of PCH are described. Therapy for the two disorders differs somewhat because of the differences in isotype of the antibody. Since the hemolysis in both is primarily due to complement activation, the potential role of its control, as by the monoclonal antibody described by Dr. Hillmen, is discussed.

Sociodemographic factors of families related to postnatal depressive symptoms of mothers.

Postnatal depression in mothers is commonplace as it affects 10-15% of recent mothers. Postnatal depression is still an under-diagnosed illness and if unidentified, is often left untreated. If left untreated, the depression can have an adverse effect not only on the mother, but also on the child's development and on the well-being of the whole family. The aim of this survey was to investigate the prevalence of postnatal depressive symptoms among Finnish mothers and to ascertain the relationship with sociodemographic factors in mothers. A sample of 1000 families at 2 months postnatal was studied by mailing the Edinburgh Postnatal Depression Scale to mothers and a questionnaire on demographic characteristics to mothers and fathers. The response rate was 39%. The data were examined by means of frequency and percentage distributions. Connections were examined using Spearman correlation coefficient and analysis of variance. In all, 373 mothers and 314 fathers took part in the study. Fifty-five (13%) mothers had depressive symptoms. Results show that the number of pregnancies, deliveries or children, the mode of delivery or the mother's age were not associated with depressive symptoms. However, mothers who had depressive symptoms had fewer years of education, shorter duration of breast-feeding and were more dissatisfied with family life compared with mothers who exhibited no depressive symptomatology. The families of mothers with depressive symptoms had also experienced more problems and changes having a profound impact on the family compared with other mothers.

Juvenile myoclonic epilepsy (Janz syndrome). A well-known epilepsy syndrome?

Juvenile myoclonic epilepsy (JME) was described electroclinically by Janz and Christian in 1957 and consists of myoclonic jerks in varying combination with the absence of seizures and generalized tonic-clonic seizures, a typical circadian distribution on awakening, sleep deprivation, alcohol consumption and flickering stimuli as characteristic precipitating factors, typical EEG abnormalities with generalized epileptiform discharges, normal physical and neuroradiological findings, and often a family history of epilepsy. Although the misdiagnosis of this well-classified and easily treatable syndrome is supposed to occur rarely in Germany, we retrospectively investigated how often the wrong initial classification had been made among patients who were finally treated in our outpatient epilepsy unit. Between 1993 and 1995, 30 patients with a typical JME-like symptom constellation were identified who had been misdiagnosed initially. In all patients, localization-related epilepsy had been classified, although regional EEG abnormalities were rare (n = 5). All patients reported the typical circadian distribution, abnormal neuroradiological findings were absent, and typical EEG abnormalities were present in all cases. Under treatment with appropriate antiepileptic drugs 97% of the patients became almost completely seizure-free. Even 40 years after the first description of the syndrome, JME is an underdiagnosed illness. The generally positive course underlines the importance of its correct identification.

West Germany: Still an underdeveloped country in the diagnosis and early treatment of primary hyperparathyroidism?

Early diagnosis of asymptomatic patients with primary hyperparathyroidism (primary HPT) has been achieved in Scandinavia, the United States of America, and the United Kingdom during the last 20 years. Comparable results have been reported from some medical centers from West Germany; however, clinical manifestations were pronounced and patient symptoms were high in our population with primary HPT (N = 128) operated on at the University of Düsseldorf from April, 1986 to July, 1989. Only 19 patients (14.8%) were asymptomatic while the others suffered from nephrolithiasis (39%), osteopathy (32%), gastrointestinal disturbances (28.9%), and depression (11.7%). In 46 (35.9%) of our patients, the duration of these clinical symptoms exceeded 10 years, in 27 patients (21%) 15 years, and in 12 patients (9.3%) even 25 years. We, therefore, conclude that primary HPT is still a grossly underdiagnosed illness in parts of West Germany, presently, with patients suffering from severe clinical symptoms for more than 1-2 decades before definitive treatment.